Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Apr 2016 by
Evidence-based…
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)
Variation ID: 37426 Accession: VCV000037426.113
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43093844 (GRCh38) [ NCBI UCSC ] 17: 41245861 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Mar 3, 2015 Oct 20, 2024 Apr 22, 2016 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.1687C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gln563Ter nonsense NM_001407571.1:c.1474C>T NP_001394500.1:p.Gln492Ter nonsense NM_001407581.1:c.1687C>T NP_001394510.1:p.Gln563Ter nonsense NM_001407582.1:c.1687C>T NP_001394511.1:p.Gln563Ter nonsense NM_001407583.1:c.1687C>T NP_001394512.1:p.Gln563Ter nonsense NM_001407585.1:c.1687C>T NP_001394514.1:p.Gln563Ter nonsense NM_001407587.1:c.1684C>T NP_001394516.1:p.Gln562Ter nonsense NM_001407590.1:c.1684C>T NP_001394519.1:p.Gln562Ter nonsense NM_001407591.1:c.1684C>T NP_001394520.1:p.Gln562Ter nonsense NM_001407593.1:c.1687C>T NP_001394522.1:p.Gln563Ter nonsense NM_001407594.1:c.1687C>T NP_001394523.1:p.Gln563Ter nonsense NM_001407596.1:c.1687C>T NP_001394525.1:p.Gln563Ter nonsense NM_001407597.1:c.1687C>T NP_001394526.1:p.Gln563Ter nonsense NM_001407598.1:c.1687C>T NP_001394527.1:p.Gln563Ter nonsense NM_001407602.1:c.1687C>T NP_001394531.1:p.Gln563Ter nonsense NM_001407603.1:c.1687C>T NP_001394532.1:p.Gln563Ter nonsense NM_001407605.1:c.1687C>T NP_001394534.1:p.Gln563Ter nonsense NM_001407610.1:c.1684C>T NP_001394539.1:p.Gln562Ter nonsense NM_001407611.1:c.1684C>T NP_001394540.1:p.Gln562Ter nonsense NM_001407612.1:c.1684C>T NP_001394541.1:p.Gln562Ter nonsense NM_001407613.1:c.1684C>T NP_001394542.1:p.Gln562Ter nonsense NM_001407614.1:c.1684C>T NP_001394543.1:p.Gln562Ter nonsense NM_001407615.1:c.1684C>T NP_001394544.1:p.Gln562Ter nonsense NM_001407616.1:c.1687C>T NP_001394545.1:p.Gln563Ter nonsense NM_001407617.1:c.1687C>T NP_001394546.1:p.Gln563Ter nonsense NM_001407618.1:c.1687C>T NP_001394547.1:p.Gln563Ter nonsense NM_001407619.1:c.1687C>T NP_001394548.1:p.Gln563Ter nonsense NM_001407620.1:c.1687C>T NP_001394549.1:p.Gln563Ter nonsense NM_001407621.1:c.1687C>T NP_001394550.1:p.Gln563Ter nonsense NM_001407622.1:c.1687C>T NP_001394551.1:p.Gln563Ter nonsense NM_001407623.1:c.1687C>T NP_001394552.1:p.Gln563Ter nonsense NM_001407624.1:c.1687C>T NP_001394553.1:p.Gln563Ter nonsense NM_001407625.1:c.1687C>T NP_001394554.1:p.Gln563Ter nonsense NM_001407626.1:c.1687C>T NP_001394555.1:p.Gln563Ter nonsense NM_001407627.1:c.1684C>T NP_001394556.1:p.Gln562Ter nonsense NM_001407628.1:c.1684C>T NP_001394557.1:p.Gln562Ter nonsense NM_001407629.1:c.1684C>T NP_001394558.1:p.Gln562Ter nonsense NM_001407630.1:c.1684C>T NP_001394559.1:p.Gln562Ter nonsense NM_001407631.1:c.1684C>T NP_001394560.1:p.Gln562Ter nonsense NM_001407632.1:c.1684C>T NP_001394561.1:p.Gln562Ter nonsense NM_001407633.1:c.1684C>T NP_001394562.1:p.Gln562Ter nonsense NM_001407634.1:c.1684C>T NP_001394563.1:p.Gln562Ter nonsense NM_001407635.1:c.1684C>T NP_001394564.1:p.Gln562Ter nonsense NM_001407636.1:c.1684C>T NP_001394565.1:p.Gln562Ter nonsense NM_001407637.1:c.1684C>T NP_001394566.1:p.Gln562Ter nonsense NM_001407638.1:c.1684C>T NP_001394567.1:p.Gln562Ter nonsense NM_001407639.1:c.1687C>T NP_001394568.1:p.Gln563Ter nonsense NM_001407640.1:c.1687C>T NP_001394569.1:p.Gln563Ter nonsense NM_001407641.1:c.1687C>T NP_001394570.1:p.Gln563Ter nonsense NM_001407642.1:c.1687C>T NP_001394571.1:p.Gln563Ter nonsense NM_001407644.1:c.1684C>T NP_001394573.1:p.Gln562Ter nonsense NM_001407645.1:c.1684C>T NP_001394574.1:p.Gln562Ter nonsense NM_001407646.1:c.1678C>T NP_001394575.1:p.Gln560Ter nonsense NM_001407647.1:c.1678C>T NP_001394576.1:p.Gln560Ter nonsense NM_001407648.1:c.1564C>T NP_001394577.1:p.Gln522Ter nonsense NM_001407649.1:c.1561C>T NP_001394578.1:p.Gln521Ter nonsense NM_001407652.1:c.1687C>T NP_001394581.1:p.Gln563Ter nonsense NM_001407653.1:c.1609C>T NP_001394582.1:p.Gln537Ter nonsense NM_001407654.1:c.1609C>T NP_001394583.1:p.Gln537Ter nonsense NM_001407655.1:c.1609C>T NP_001394584.1:p.Gln537Ter nonsense NM_001407656.1:c.1609C>T NP_001394585.1:p.Gln537Ter nonsense NM_001407657.1:c.1609C>T NP_001394586.1:p.Gln537Ter nonsense NM_001407658.1:c.1609C>T NP_001394587.1:p.Gln537Ter nonsense NM_001407659.1:c.1606C>T NP_001394588.1:p.Gln536Ter nonsense NM_001407660.1:c.1606C>T NP_001394589.1:p.Gln536Ter nonsense NM_001407661.1:c.1606C>T NP_001394590.1:p.Gln536Ter nonsense NM_001407662.1:c.1606C>T NP_001394591.1:p.Gln536Ter nonsense NM_001407663.1:c.1609C>T NP_001394592.1:p.Gln537Ter nonsense NM_001407664.1:c.1564C>T NP_001394593.1:p.Gln522Ter nonsense NM_001407665.1:c.1564C>T NP_001394594.1:p.Gln522Ter nonsense NM_001407666.1:c.1564C>T NP_001394595.1:p.Gln522Ter nonsense NM_001407667.1:c.1564C>T NP_001394596.1:p.Gln522Ter nonsense NM_001407668.1:c.1564C>T NP_001394597.1:p.Gln522Ter nonsense NM_001407669.1:c.1564C>T NP_001394598.1:p.Gln522Ter nonsense NM_001407670.1:c.1561C>T NP_001394599.1:p.Gln521Ter nonsense NM_001407671.1:c.1561C>T NP_001394600.1:p.Gln521Ter nonsense NM_001407672.1:c.1561C>T NP_001394601.1:p.Gln521Ter nonsense NM_001407673.1:c.1561C>T NP_001394602.1:p.Gln521Ter nonsense NM_001407674.1:c.1564C>T NP_001394603.1:p.Gln522Ter nonsense NM_001407675.1:c.1564C>T NP_001394604.1:p.Gln522Ter nonsense NM_001407676.1:c.1564C>T NP_001394605.1:p.Gln522Ter nonsense NM_001407677.1:c.1564C>T NP_001394606.1:p.Gln522Ter nonsense NM_001407678.1:c.1564C>T NP_001394607.1:p.Gln522Ter nonsense NM_001407679.1:c.1564C>T NP_001394608.1:p.Gln522Ter nonsense NM_001407680.1:c.1564C>T NP_001394609.1:p.Gln522Ter nonsense NM_001407681.1:c.1564C>T NP_001394610.1:p.Gln522Ter nonsense NM_001407682.1:c.1564C>T NP_001394611.1:p.Gln522Ter nonsense NM_001407683.1:c.1564C>T NP_001394612.1:p.Gln522Ter nonsense NM_001407684.1:c.1687C>T NP_001394613.1:p.Gln563Ter nonsense NM_001407685.1:c.1561C>T NP_001394614.1:p.Gln521Ter nonsense NM_001407686.1:c.1561C>T NP_001394615.1:p.Gln521Ter nonsense NM_001407687.1:c.1561C>T NP_001394616.1:p.Gln521Ter nonsense NM_001407688.1:c.1561C>T NP_001394617.1:p.Gln521Ter nonsense NM_001407689.1:c.1561C>T NP_001394618.1:p.Gln521Ter nonsense NM_001407690.1:c.1561C>T NP_001394619.1:p.Gln521Ter nonsense NM_001407691.1:c.1561C>T NP_001394620.1:p.Gln521Ter nonsense NM_001407692.1:c.1546C>T NP_001394621.1:p.Gln516Ter nonsense NM_001407694.1:c.1546C>T NP_001394623.1:p.Gln516Ter nonsense NM_001407695.1:c.1546C>T NP_001394624.1:p.Gln516Ter nonsense NM_001407696.1:c.1546C>T NP_001394625.1:p.Gln516Ter nonsense NM_001407697.1:c.1546C>T NP_001394626.1:p.Gln516Ter nonsense NM_001407698.1:c.1546C>T NP_001394627.1:p.Gln516Ter nonsense NM_001407724.1:c.1546C>T NP_001394653.1:p.Gln516Ter nonsense NM_001407725.1:c.1546C>T NP_001394654.1:p.Gln516Ter nonsense NM_001407726.1:c.1546C>T NP_001394655.1:p.Gln516Ter nonsense NM_001407727.1:c.1546C>T NP_001394656.1:p.Gln516Ter nonsense NM_001407728.1:c.1546C>T NP_001394657.1:p.Gln516Ter nonsense NM_001407729.1:c.1546C>T NP_001394658.1:p.Gln516Ter nonsense NM_001407730.1:c.1546C>T NP_001394659.1:p.Gln516Ter nonsense NM_001407731.1:c.1546C>T NP_001394660.1:p.Gln516Ter nonsense NM_001407732.1:c.1546C>T NP_001394661.1:p.Gln516Ter nonsense NM_001407733.1:c.1546C>T NP_001394662.1:p.Gln516Ter nonsense NM_001407734.1:c.1546C>T NP_001394663.1:p.Gln516Ter nonsense NM_001407735.1:c.1546C>T NP_001394664.1:p.Gln516Ter nonsense NM_001407736.1:c.1546C>T NP_001394665.1:p.Gln516Ter nonsense NM_001407737.1:c.1546C>T NP_001394666.1:p.Gln516Ter nonsense NM_001407738.1:c.1546C>T NP_001394667.1:p.Gln516Ter nonsense NM_001407739.1:c.1546C>T NP_001394668.1:p.Gln516Ter nonsense NM_001407740.1:c.1543C>T NP_001394669.1:p.Gln515Ter nonsense NM_001407741.1:c.1543C>T NP_001394670.1:p.Gln515Ter nonsense NM_001407742.1:c.1543C>T NP_001394671.1:p.Gln515Ter nonsense NM_001407743.1:c.1543C>T NP_001394672.1:p.Gln515Ter nonsense NM_001407744.1:c.1543C>T NP_001394673.1:p.Gln515Ter nonsense NM_001407745.1:c.1543C>T NP_001394674.1:p.Gln515Ter nonsense NM_001407746.1:c.1543C>T NP_001394675.1:p.Gln515Ter nonsense NM_001407747.1:c.1543C>T NP_001394676.1:p.Gln515Ter nonsense NM_001407748.1:c.1543C>T NP_001394677.1:p.Gln515Ter nonsense NM_001407749.1:c.1543C>T NP_001394678.1:p.Gln515Ter nonsense NM_001407750.1:c.1546C>T NP_001394679.1:p.Gln516Ter nonsense NM_001407751.1:c.1546C>T NP_001394680.1:p.Gln516Ter nonsense NM_001407752.1:c.1546C>T NP_001394681.1:p.Gln516Ter nonsense NM_001407838.1:c.1543C>T NP_001394767.1:p.Gln515Ter nonsense NM_001407839.1:c.1543C>T NP_001394768.1:p.Gln515Ter nonsense NM_001407841.1:c.1543C>T NP_001394770.1:p.Gln515Ter nonsense NM_001407842.1:c.1543C>T NP_001394771.1:p.Gln515Ter nonsense NM_001407843.1:c.1543C>T NP_001394772.1:p.Gln515Ter nonsense NM_001407844.1:c.1543C>T NP_001394773.1:p.Gln515Ter nonsense NM_001407845.1:c.1543C>T NP_001394774.1:p.Gln515Ter nonsense NM_001407846.1:c.1543C>T NP_001394775.1:p.Gln515Ter nonsense NM_001407847.1:c.1543C>T NP_001394776.1:p.Gln515Ter nonsense NM_001407848.1:c.1543C>T NP_001394777.1:p.Gln515Ter nonsense NM_001407849.1:c.1543C>T NP_001394778.1:p.Gln515Ter nonsense NM_001407850.1:c.1546C>T NP_001394779.1:p.Gln516Ter nonsense NM_001407851.1:c.1546C>T NP_001394780.1:p.Gln516Ter nonsense NM_001407852.1:c.1546C>T NP_001394781.1:p.Gln516Ter nonsense NM_001407853.1:c.1474C>T NP_001394782.1:p.Gln492Ter nonsense NM_001407854.1:c.1687C>T NP_001394783.1:p.Gln563Ter nonsense NM_001407858.1:c.1687C>T NP_001394787.1:p.Gln563Ter nonsense NM_001407859.1:c.1687C>T NP_001394788.1:p.Gln563Ter nonsense NM_001407860.1:c.1684C>T NP_001394789.1:p.Gln562Ter nonsense NM_001407861.1:c.1684C>T NP_001394790.1:p.Gln562Ter nonsense NM_001407862.1:c.1486C>T NP_001394791.1:p.Gln496Ter nonsense NM_001407863.1:c.1564C>T NP_001394792.1:p.Gln522Ter nonsense NM_001407874.1:c.1483C>T NP_001394803.1:p.Gln495Ter nonsense NM_001407875.1:c.1483C>T NP_001394804.1:p.Gln495Ter nonsense NM_001407879.1:c.1477C>T NP_001394808.1:p.Gln493Ter nonsense NM_001407881.1:c.1477C>T NP_001394810.1:p.Gln493Ter nonsense NM_001407882.1:c.1477C>T NP_001394811.1:p.Gln493Ter nonsense NM_001407884.1:c.1477C>T NP_001394813.1:p.Gln493Ter nonsense NM_001407885.1:c.1477C>T NP_001394814.1:p.Gln493Ter nonsense NM_001407886.1:c.1477C>T NP_001394815.1:p.Gln493Ter nonsense NM_001407887.1:c.1477C>T NP_001394816.1:p.Gln493Ter nonsense NM_001407889.1:c.1477C>T NP_001394818.1:p.Gln493Ter nonsense NM_001407894.1:c.1474C>T NP_001394823.1:p.Gln492Ter nonsense NM_001407895.1:c.1474C>T NP_001394824.1:p.Gln492Ter nonsense NM_001407896.1:c.1474C>T NP_001394825.1:p.Gln492Ter nonsense NM_001407897.1:c.1474C>T NP_001394826.1:p.Gln492Ter nonsense NM_001407898.1:c.1474C>T NP_001394827.1:p.Gln492Ter nonsense NM_001407899.1:c.1474C>T NP_001394828.1:p.Gln492Ter nonsense NM_001407900.1:c.1477C>T NP_001394829.1:p.Gln493Ter nonsense NM_001407902.1:c.1477C>T NP_001394831.1:p.Gln493Ter nonsense NM_001407904.1:c.1477C>T NP_001394833.1:p.Gln493Ter nonsense NM_001407906.1:c.1477C>T NP_001394835.1:p.Gln493Ter nonsense NM_001407907.1:c.1477C>T NP_001394836.1:p.Gln493Ter nonsense NM_001407908.1:c.1477C>T NP_001394837.1:p.Gln493Ter nonsense NM_001407909.1:c.1477C>T NP_001394838.1:p.Gln493Ter nonsense NM_001407910.1:c.1477C>T NP_001394839.1:p.Gln493Ter nonsense NM_001407915.1:c.1474C>T NP_001394844.1:p.Gln492Ter nonsense NM_001407916.1:c.1474C>T NP_001394845.1:p.Gln492Ter nonsense NM_001407917.1:c.1474C>T NP_001394846.1:p.Gln492Ter nonsense NM_001407918.1:c.1474C>T NP_001394847.1:p.Gln492Ter nonsense NM_001407919.1:c.1564C>T NP_001394848.1:p.Gln522Ter nonsense NM_001407920.1:c.1423C>T NP_001394849.1:p.Gln475Ter nonsense NM_001407921.1:c.1423C>T NP_001394850.1:p.Gln475Ter nonsense NM_001407922.1:c.1423C>T NP_001394851.1:p.Gln475Ter nonsense NM_001407923.1:c.1423C>T NP_001394852.1:p.Gln475Ter nonsense NM_001407924.1:c.1423C>T NP_001394853.1:p.Gln475Ter nonsense NM_001407925.1:c.1423C>T NP_001394854.1:p.Gln475Ter nonsense NM_001407926.1:c.1423C>T NP_001394855.1:p.Gln475Ter nonsense NM_001407927.1:c.1423C>T NP_001394856.1:p.Gln475Ter nonsense NM_001407928.1:c.1423C>T NP_001394857.1:p.Gln475Ter nonsense NM_001407929.1:c.1423C>T NP_001394858.1:p.Gln475Ter nonsense NM_001407930.1:c.1420C>T NP_001394859.1:p.Gln474Ter nonsense NM_001407931.1:c.1420C>T NP_001394860.1:p.Gln474Ter nonsense NM_001407932.1:c.1420C>T NP_001394861.1:p.Gln474Ter nonsense NM_001407933.1:c.1423C>T NP_001394862.1:p.Gln475Ter nonsense NM_001407934.1:c.1420C>T NP_001394863.1:p.Gln474Ter nonsense NM_001407935.1:c.1423C>T NP_001394864.1:p.Gln475Ter nonsense NM_001407936.1:c.1420C>T NP_001394865.1:p.Gln474Ter nonsense NM_001407937.1:c.1564C>T NP_001394866.1:p.Gln522Ter nonsense NM_001407938.1:c.1564C>T NP_001394867.1:p.Gln522Ter nonsense NM_001407939.1:c.1564C>T NP_001394868.1:p.Gln522Ter nonsense NM_001407940.1:c.1561C>T NP_001394869.1:p.Gln521Ter nonsense NM_001407941.1:c.1561C>T NP_001394870.1:p.Gln521Ter nonsense NM_001407942.1:c.1546C>T NP_001394871.1:p.Gln516Ter nonsense NM_001407943.1:c.1543C>T NP_001394872.1:p.Gln515Ter nonsense NM_001407944.1:c.1546C>T NP_001394873.1:p.Gln516Ter nonsense NM_001407945.1:c.1546C>T NP_001394874.1:p.Gln516Ter nonsense NM_001407946.1:c.1354C>T NP_001394875.1:p.Gln452Ter nonsense NM_001407947.1:c.1354C>T NP_001394876.1:p.Gln452Ter nonsense NM_001407948.1:c.1354C>T NP_001394877.1:p.Gln452Ter nonsense NM_001407949.1:c.1354C>T NP_001394878.1:p.Gln452Ter nonsense NM_001407950.1:c.1354C>T NP_001394879.1:p.Gln452Ter nonsense NM_001407951.1:c.1354C>T NP_001394880.1:p.Gln452Ter nonsense NM_001407952.1:c.1354C>T NP_001394881.1:p.Gln452Ter nonsense NM_001407953.1:c.1354C>T NP_001394882.1:p.Gln452Ter nonsense NM_001407954.1:c.1351C>T NP_001394883.1:p.Gln451Ter nonsense NM_001407955.1:c.1351C>T NP_001394884.1:p.Gln451Ter nonsense NM_001407956.1:c.1351C>T NP_001394885.1:p.Gln451Ter nonsense NM_001407957.1:c.1354C>T NP_001394886.1:p.Gln452Ter nonsense NM_001407958.1:c.1351C>T NP_001394887.1:p.Gln451Ter nonsense NM_001407959.1:c.1306C>T NP_001394888.1:p.Gln436Ter nonsense NM_001407960.1:c.1306C>T NP_001394889.1:p.Gln436Ter nonsense NM_001407962.1:c.1303C>T NP_001394891.1:p.Gln435Ter nonsense NM_001407963.1:c.1306C>T NP_001394892.1:p.Gln436Ter nonsense NM_001407964.1:c.1543C>T NP_001394893.1:p.Gln515Ter nonsense NM_001407965.1:c.1183C>T NP_001394894.1:p.Gln395Ter nonsense NM_001407966.1:c.799C>T NP_001394895.1:p.Gln267Ter nonsense NM_001407967.1:c.799C>T NP_001394896.1:p.Gln267Ter nonsense NM_001407968.1:c.787+900C>T intron variant NM_001407969.1:c.787+900C>T intron variant NM_001407970.1:c.787+900C>T intron variant NM_001407971.1:c.787+900C>T intron variant NM_001407972.1:c.784+900C>T intron variant NM_001407973.1:c.787+900C>T intron variant NM_001407974.1:c.787+900C>T intron variant NM_001407975.1:c.787+900C>T intron variant NM_001407976.1:c.787+900C>T intron variant NM_001407977.1:c.787+900C>T intron variant NM_001407978.1:c.787+900C>T intron variant NM_001407979.1:c.787+900C>T intron variant NM_001407980.1:c.787+900C>T intron variant NM_001407981.1:c.787+900C>T intron variant NM_001407982.1:c.787+900C>T intron variant NM_001407983.1:c.787+900C>T intron variant NM_001407984.1:c.784+900C>T intron variant NM_001407985.1:c.784+900C>T intron variant NM_001407986.1:c.784+900C>T intron variant NM_001407990.1:c.787+900C>T intron variant NM_001407991.1:c.784+900C>T intron variant NM_001407992.1:c.784+900C>T intron variant NM_001407993.1:c.787+900C>T intron variant NM_001408392.1:c.784+900C>T intron variant NM_001408396.1:c.784+900C>T intron variant NM_001408397.1:c.784+900C>T intron variant NM_001408398.1:c.784+900C>T intron variant NM_001408399.1:c.784+900C>T intron variant NM_001408400.1:c.784+900C>T intron variant NM_001408401.1:c.784+900C>T intron variant NM_001408402.1:c.784+900C>T intron variant NM_001408403.1:c.787+900C>T intron variant NM_001408404.1:c.787+900C>T intron variant NM_001408406.1:c.790+897C>T intron variant NM_001408407.1:c.784+900C>T intron variant NM_001408408.1:c.778+900C>T intron variant NM_001408409.1:c.709+900C>T intron variant NM_001408410.1:c.646+900C>T intron variant NM_001408411.1:c.709+900C>T intron variant NM_001408412.1:c.709+900C>T intron variant NM_001408413.1:c.706+900C>T intron variant NM_001408414.1:c.709+900C>T intron variant NM_001408415.1:c.709+900C>T intron variant NM_001408416.1:c.706+900C>T intron variant NM_001408418.1:c.670+2002C>T intron variant NM_001408419.1:c.670+2002C>T intron variant NM_001408420.1:c.670+2002C>T intron variant NM_001408421.1:c.667+2002C>T intron variant NM_001408422.1:c.670+2002C>T intron variant NM_001408423.1:c.670+2002C>T intron variant NM_001408424.1:c.667+2002C>T intron variant NM_001408425.1:c.664+900C>T intron variant NM_001408426.1:c.664+900C>T intron variant NM_001408427.1:c.664+900C>T intron variant NM_001408428.1:c.664+900C>T intron variant NM_001408429.1:c.664+900C>T intron variant NM_001408430.1:c.664+900C>T intron variant NM_001408431.1:c.667+2002C>T intron variant NM_001408432.1:c.661+900C>T intron variant NM_001408433.1:c.661+900C>T intron variant NM_001408434.1:c.661+900C>T intron variant NM_001408435.1:c.661+900C>T intron variant NM_001408436.1:c.664+900C>T intron variant NM_001408437.1:c.664+900C>T intron variant NM_001408438.1:c.664+900C>T intron variant NM_001408439.1:c.664+900C>T intron variant NM_001408440.1:c.664+900C>T intron variant NM_001408441.1:c.664+900C>T intron variant NM_001408442.1:c.664+900C>T intron variant NM_001408443.1:c.664+900C>T intron variant NM_001408444.1:c.664+900C>T intron variant NM_001408445.1:c.661+900C>T intron variant NM_001408446.1:c.661+900C>T intron variant NM_001408447.1:c.661+900C>T intron variant NM_001408448.1:c.661+900C>T intron variant NM_001408450.1:c.661+900C>T intron variant NM_001408451.1:c.652+900C>T intron variant NM_001408452.1:c.646+900C>T intron variant NM_001408453.1:c.646+900C>T intron variant NM_001408454.1:c.646+900C>T intron variant NM_001408455.1:c.646+900C>T intron variant NM_001408456.1:c.646+900C>T intron variant NM_001408457.1:c.646+900C>T intron variant NM_001408458.1:c.646+900C>T intron variant NM_001408459.1:c.646+900C>T intron variant NM_001408460.1:c.646+900C>T intron variant NM_001408461.1:c.646+900C>T intron variant NM_001408462.1:c.643+900C>T intron variant NM_001408463.1:c.643+900C>T intron variant NM_001408464.1:c.643+900C>T intron variant NM_001408465.1:c.643+900C>T intron variant NM_001408466.1:c.646+900C>T intron variant NM_001408467.1:c.646+900C>T intron variant NM_001408468.1:c.643+900C>T intron variant NM_001408469.1:c.646+900C>T intron variant NM_001408470.1:c.643+900C>T intron variant NM_001408472.1:c.787+900C>T intron variant NM_001408473.1:c.784+900C>T intron variant NM_001408474.1:c.586+900C>T intron variant NM_001408475.1:c.583+900C>T intron variant NM_001408476.1:c.586+900C>T intron variant NM_001408478.1:c.577+900C>T intron variant NM_001408479.1:c.577+900C>T intron variant NM_001408480.1:c.577+900C>T intron variant NM_001408481.1:c.577+900C>T intron variant NM_001408482.1:c.577+900C>T intron variant NM_001408483.1:c.577+900C>T intron variant NM_001408484.1:c.577+900C>T intron variant NM_001408485.1:c.577+900C>T intron variant NM_001408489.1:c.577+900C>T intron variant NM_001408490.1:c.574+900C>T intron variant NM_001408491.1:c.574+900C>T intron variant NM_001408492.1:c.577+900C>T intron variant NM_001408493.1:c.574+900C>T intron variant NM_001408494.1:c.548-2812C>T intron variant NM_001408495.1:c.545-2812C>T intron variant NM_001408496.1:c.523+900C>T intron variant NM_001408497.1:c.523+900C>T intron variant NM_001408498.1:c.523+900C>T intron variant NM_001408499.1:c.523+900C>T intron variant NM_001408500.1:c.523+900C>T intron variant NM_001408501.1:c.523+900C>T intron variant NM_001408502.1:c.454+900C>T intron variant NM_001408503.1:c.520+900C>T intron variant NM_001408504.1:c.520+900C>T intron variant NM_001408505.1:c.520+900C>T intron variant NM_001408506.1:c.460+2002C>T intron variant NM_001408507.1:c.460+2002C>T intron variant NM_001408508.1:c.451+900C>T intron variant NM_001408509.1:c.451+900C>T intron variant NM_001408510.1:c.406+900C>T intron variant NM_001408511.1:c.404-2812C>T intron variant NM_001408512.1:c.283+900C>T intron variant NM_001408513.1:c.577+900C>T intron variant NM_001408514.1:c.577+900C>T intron variant NM_007297.4:c.1546C>T NP_009228.2:p.Gln516Ter nonsense NM_007298.4:c.787+900C>T intron variant NM_007299.4:c.787+900C>T intron variant NM_007300.4:c.1687C>T NP_009231.2:p.Gln563Ter nonsense NR_027676.1:n.1823C>T NC_000017.11:g.43093844G>A NC_000017.10:g.41245861G>A NG_005905.2:g.124140C>T LRG_292:g.124140C>T LRG_292t1:c.1687C>T LRG_292p1:p.Gln563Ter U14680.1:n.1806C>T - Protein change
- Q563*, Q516*, Q435*, Q536*, Q452*, Q493*, Q495*, Q496*, Q395*, Q436*, Q451*, Q474*, Q475*, Q521*, Q522*, Q537*, Q267*, Q492*, Q515*, Q560*, Q562*
- Other names
-
p.Q563*:CAG>TAG
1806C>T
- Canonical SPDI
- NC_000017.11:43093843:G:A
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Exome Aggregation Consortium (ExAC) 0.00004
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13041 | 14847 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Pathogenic (22) |
reviewed by expert panel
|
Apr 22, 2016 | RCV000031007.43 | |
| Pathogenic (6) |
criteria provided, multiple submitters, no conflicts
|
Jan 11, 2024 | RCV000047559.35 | |
| Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
Mar 16, 2023 | RCV000131897.21 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Jul 1, 2016 | RCV000238721.9 | |
| Pathogenic (14) |
criteria provided, multiple submitters, no conflicts
|
Jul 31, 2024 | RCV000159956.56 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Oct 31, 2018 | RCV000763006.10 | |
| Pathogenic (2) |
criteria provided, single submitter
|
May 13, 2016 | RCV000770747.11 | |
| Pathogenic (2) |
criteria provided, single submitter
|
Dec 12, 2019 | RCV000786987.12 | |
| Pathogenic (1) |
no assertion criteria provided
|
Dec 1, 2018 | RCV000785207.10 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Feb 17, 2014 | RCV000415155.10 | |
|
BRCA1-related disorder
|
Pathogenic (1) |
no assertion criteria provided
|
Dec 7, 2023 | RCV004554614.2 |
| Pathogenic (1) |
no assertion criteria provided
|
Feb 21, 2023 | RCV003128130.8 | |
| click to load more click to collapse | ||||
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Apr 22, 2016)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000282262.1
First in ClinVar: Jun 24, 2016 Last updated: Jun 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
Pathogenic
(May 13, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
|
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Study: Canadian Open Genetics Repository
Accession: SCV000902230.1 First in ClinVar: May 06, 2019 Last updated: May 06, 2019 |
|
|
|
Pathogenic
(May 21, 2021)
|
criteria provided, single submitter
Method: curation
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002538045.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022
Comment:
The BRCA1 c.1687C>T (p.Q563X) variant is a well characterized pathogenic variant that has been associated with autosomal dominant hereditary breast and ovarian cancer syndrome (PMID: … (more)
The BRCA1 c.1687C>T (p.Q563X) variant is a well characterized pathogenic variant that has been associated with autosomal dominant hereditary breast and ovarian cancer syndrome (PMID: 11251181, 29339979, 22776961, 27425403, 29161300, 28324225). This variant is also known as c.1806C>T in the literature. This nonsense variant creates a premature stop codon at residue 563 of the BRCA1 protein. At this location, this is predicted to cause nonsense-mediated decay and result in an absent protein (loss of function). Loss of function variants in BRCA1 are known to be pathogenic (PMID: 29446198). This variant was observed in 7/113222 chromosomes in the Non-Finnish European population in the large and broad cohorts of the Genome Aggregation Database (http://gnomad.broadinstitute.org, PMID: 32461654) and has been reported in ClinVar (Variation ID 37426). Based on the current evidence available, this variant was interpreted as pathogenic. (less)
|
|
|
|
Pathogenic
(May 11, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000210108.15
First in ClinVar: Feb 24, 2015 Last updated: Mar 04, 2023 |
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed … (more)
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed in individuals with a personal or family history consistent with pathogenic variants in this gene (Janavicius 2010, Ghiorzo 2012, Karami 2013, Meisel 2017); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Not observed at a significant frequency in large population cohorts (gnomAD); Also known as 1806C>T; This variant is associated with the following publications: (PMID: 24312913, 15024741, 15876480, 20373018, 21989927, 22776961, 24504028, 12566964, 11504767, 9663595, 23397983, 25948282, 26852130, 25525159, 18439106, 26843898, 27003155, 27376475, 27425403, 27194814, 7837387, 27914478, 27741520, 27836010, 28123851, 28127413, 28166811, 28281021, 28324225, 26681312, 28857155, 29339979, 29335924, 29907814, 29346284, 11251181, 29161300, 30103829, 30606148, 29446198, 30720243, 30322717, 31589614, 32341426, 33087929, 23199084) (less)
|
|
|
Pathogenic
(May 27, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
Accession: SCV005045929.1
First in ClinVar: Jun 02, 2024 Last updated: Jun 02, 2024 |
Comment:
PVS1; PM5_PTC_Strong
|
|
|
Pathogenic
(Jul 01, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Department of Medical Genetics, Oslo University Hospital
Accession: SCV000564338.1
First in ClinVar: Apr 22, 2017 Last updated: Apr 22, 2017 |
Number of individuals with the variant: 6
|
|
|
Pathogenic
(Jan 01, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Genologica Medica
Additional submitter:
Servicio Andaluz de Salud, Hospital Universitario Virgen de la Victoria
Accession: SCV000577923.1
First in ClinVar: Apr 22, 2017 Last updated: Apr 22, 2017 |
Family history: yes
Ethnicity/Population group: Causasians
Geographic origin: Spain
Tissue: Blood
Secondary finding: no
|
|
|
Pathogenic
(Oct 31, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV000893451.1
First in ClinVar: Mar 31, 2019 Last updated: Mar 31, 2019 |
|
|
|
Pathogenic
(Apr 24, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000966957.2
First in ClinVar: Aug 26, 2019 Last updated: Jul 06, 2020 |
Comment:
The p.Gln563X variant in BRCA1 (also referred to as 1806C>T) has been reported in >100 individuals with BRCA1-associated cancers (Shattuck-Eidens 1995, Wagner 1998, Pohlreich 2003, … (more)
The p.Gln563X variant in BRCA1 (also referred to as 1806C>T) has been reported in >100 individuals with BRCA1-associated cancers (Shattuck-Eidens 1995, Wagner 1998, Pohlreich 2003, Foretova 2004, Salazar 2006, Krajc 2008, Janav 2010, Zuradelli 2010, Blay 2013, Cunningham 2014, Kluska 2015, Cini 2016, Breast Cancer Information Core (BIC) database). It was also identified in 5/66568 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs80356898); however, this frequency is low enough to be consistent with the frequency of hereditary breast and ovarian cancer (HBOC) in the general population. This nonsense variant leads to a premature termination codon at position 563, which is predicted to lead to a truncated or absent protein. Heterozygous loss of function of the BRCA1 gene is an established disease mechanism in HBOC. Furthermore, this variant was classified as Pathogenic on April 22, 2016 by the ClinGen-approved ENIGMA expert panel (ClinVar SCV000282262.1). In summary, this variant meets criteria to be classified as pathogenic for HBOC in an autosomal dominant manner. PVS1, PM2, PS4. (less)
Number of individuals with the variant: 2
|
|
|
Pathogenic
(Jul 26, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001472137.1
First in ClinVar: Jan 26, 2021 Last updated: Jan 26, 2021 |
Comment:
The BRCA1 c.1687C>T; p.Gln563Ter variant (rs80356898), also known as 1806C>T, has been reported in multiple individuals with breast and/or ovarian cancer (Cunningham 2014, Maistro 2016, … (more)
The BRCA1 c.1687C>T; p.Gln563Ter variant (rs80356898), also known as 1806C>T, has been reported in multiple individuals with breast and/or ovarian cancer (Cunningham 2014, Maistro 2016, Shattuck-Eidens 1995, Wagner 1998). It is listed as pathogenic in ClinVar (Variation ID: 37426), and observed 6 times in the Genome Aggregation Database population database (6/245302 alleles). The variant introduces a premature termination codon, and is predicted to result in a truncated protein or an absent transcript. Based on the above information, the variant is classified as pathogenic. References: Cunningham J et al. Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status. Sci Rep. 2014; 4:4026. Maistro S et al. Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil. BMC Cancer. 2016; 16(1):934. Shattuck-Eidens D et al. A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening. JAMA. 1995; 273(7):535-41. Wagner T et al. BRCA1-related breast cancer in Austrian breast and ovarian cancer families: specific BRCA1 mutations and pathological characteristics. Int J Cancer. 1998; 77(3):354-60. (less)
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|
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Pathogenic
(Apr 02, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Department of Molecular Diagnostics, Institute of Oncology Ljubljana
Accession: SCV001499621.1
First in ClinVar: Mar 07, 2021 Last updated: Mar 07, 2021 |
|
|
|
Pathogenic
(Mar 30, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
|
Department of Human Genetics, Hannover Medical School
Accession: SCV002318989.1
First in ClinVar: Apr 02, 2022 Last updated: Apr 02, 2022 |
Clinical Features:
Breast carcinoma (present)
|
|
|
Pathogenic
(Jul 06, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
Accession: SCV002512508.1
First in ClinVar: May 21, 2022 Last updated: May 21, 2022 |
Comment:
ACMG classification criteria: PVS1 very strong, PVS1, PS3 supporting, PS4 strong, PS4, PM2
Geographic origin: Brazil
|
|
|
Pathogenic
(Jul 02, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast and ovarian cancer syndrome
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV000839281.2
First in ClinVar: Oct 10, 2018 Last updated: Dec 11, 2022 |
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Pathogenic
(Jan 26, 2023)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
unknown
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Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001428855.4
First in ClinVar: Aug 17, 2020 Last updated: Mar 04, 2023 |
Comment:
_x000D_ Criteria applied: PVS1, PS4
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Pathogenic
(Nov 03, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: not provided
Allele origin:
germline
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Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
Accession: SCV002009464.3
First in ClinVar: Nov 06, 2021 Last updated: Jul 16, 2023 |
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Pathogenic
(Sep 07, 2023)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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Human Genetics Bochum, Ruhr University Bochum
Accession: SCV004042799.1
First in ClinVar: Oct 21, 2023 Last updated: Oct 21, 2023 |
Comment:
ACMG criteria used to clasify this variant:PVS1, PS4_SUP, PM2_SUP
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Pathogenic
(Jul 29, 2022)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV002024588.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Mar 16, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV000537661.4
First in ClinVar: Mar 24, 2017 Last updated: Feb 14, 2024 |
Comment:
This variant changes 1 nucleotide in exon 10 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in … (more)
This variant changes 1 nucleotide in exon 10 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in individuals affected with breast and/or ovarian cancer and in hereditary breast and ovarian cancer families (PMID: 20373018, 23479189, 24504028, 24728189, 25066507, 25330149, 26083025, 26219728, 26350514, 26852130, 27425403, 27741520, 28324225, 29335924, 30606148). This variant also has been detected in a breast cancer case-control meta-analysis in 12/60466 cases and 4/53461 unaffected individuals (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA1_000161). This variant has been identified in 7/250426 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
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Pathogenic
(Jan 25, 2024)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004215010.2
First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024 |
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Pathogenic
(Jul 31, 2024)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV002551031.6
First in ClinVar: Jul 23, 2022 Last updated: Aug 04, 2024 |
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Pathogenic
(Oct 01, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV002063621.20
First in ClinVar: Jan 22, 2022 Last updated: Oct 20, 2024 |
Number of individuals with the variant: 1
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Pathogenic
(Nov 03, 2014)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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Michigan Medical Genetics Laboratories, University of Michigan
Accession: SCV000195893.1
First in ClinVar: May 06, 2016 Last updated: May 06, 2016 |
Tissue: Blood
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Pathogenic
(Jul 01, 2016)
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criteria provided, single submitter
Method: clinical testing
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Ovarian cancer
Affected status: yes
Allele origin:
germline
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GeneKor MSA
Accession: SCV000296792.1
First in ClinVar: Jul 31, 2016 Last updated: Jul 31, 2016 |
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Pathogenic
(Feb 17, 2014)
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criteria provided, single submitter
Method: clinical testing
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Breast carcinoma
Ovarian neoplasm
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV000492951.1
First in ClinVar: Jan 13, 2017 Last updated: Jan 13, 2017 |
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Pathogenic
(Aug 14, 2017)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000698881.1
First in ClinVar: Dec 26, 2017 Last updated: Dec 26, 2017 |
Comment:
Variant summary: The BRCA1 c.1687C>T (p.Gln563X) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense … (more)
Variant summary: The BRCA1 c.1687C>T (p.Gln563X) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. This variant was found in 5/121138 control chromosomes at a frequency of 0.0000413, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). These occurrences need to be cautiously considered due to the cohort could harbor individuals with a BRCA1 phenotype. This variant has been reported in multiple HBOC patients and multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. (less)
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Pathogenic
(-)
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criteria provided, single submitter
Method: research
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Institute of Genomics, University of Tartu
Accession: SCV001430696.1
First in ClinVar: Aug 24, 2020 Last updated: Aug 24, 2020 |
Number of individuals with the variant: 1
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Pathogenic
(Oct 23, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
(Unknown mechanism)
Affected status: yes
Allele origin:
germline
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Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001447437.1
First in ClinVar: Nov 28, 2020 Last updated: Nov 28, 2020 |
Sex: female
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Pathogenic
(Oct 08, 2014)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics and Genomics, Karolinska University Hospital
Accession: SCV001449782.1
First in ClinVar: Dec 12, 2020 Last updated: Dec 12, 2020 |
Number of individuals with the variant: 8
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Pathogenic
(Dec 12, 2019)
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criteria provided, single submitter
Method: clinical testing
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Familial cancer of breast
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV001370480.2
First in ClinVar: Jul 06, 2020 Last updated: Dec 12, 2020 |
Comment:
This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS1.
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Pathogenic
(Mar 05, 2022)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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DASA
Accession: SCV002107121.2
First in ClinVar: Mar 28, 2022 Last updated: Apr 02, 2022 |
Comment:
The c.1687C>T;p.(Gln563*) variant creates a premature translational stop signal in the BRCA1 gene. It is expected to result in an absent or disrupted protein product … (more)
The c.1687C>T;p.(Gln563*) variant creates a premature translational stop signal in the BRCA1 gene. It is expected to result in an absent or disrupted protein product - PVS1. Well-established in vitro or in vivo functional studies supportive of a damaging effect on the gene or gene product (PMID: 12393792) - PS3_supporting. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 37426; PMID: 23199084; PMID: 24312913; PMID: 21989927; PMID: 25330149; PMID: 25948282; PMID: 26852130; PMID: 12393792) - PS4. The variant is present at low allele frequencies population databases (rs80356898 – gnomAD 0.0002795%; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2_supporting. In summary, the currently available evidence indicates that the variant is pathogenic. (less)
Number of individuals with the variant: 1
Sex: female
Geographic origin: Brazil
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Pathogenic
(Nov 01, 2021)
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criteria provided, single submitter
Method: research
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Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
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Genetics Program, Instituto Nacional de Cancer
Accession: SCV002515176.1
First in ClinVar: Nov 19, 2022 Last updated: Nov 19, 2022 |
Geographic origin: Brazil
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Pathogenic
(Oct 02, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325122.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Dec 09, 2022)
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criteria provided, single submitter
Method: research
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: no
Allele origin:
germline
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV002762792.2
First in ClinVar: Dec 17, 2022 Last updated: Feb 25, 2023 |
Comment:
PVS1, PS3, PS4_STR
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Pathogenic
(Nov 21, 2019)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000296341.6
First in ClinVar: Jun 24, 2016 Last updated: Jan 06, 2024 |
Comment:
This nonsense variant causes the premature termination of BRCA1 protein synthesis. In addition, it has been reported in patients with breast, ovarian and pancreatic cancers … (more)
This nonsense variant causes the premature termination of BRCA1 protein synthesis. In addition, it has been reported in patients with breast, ovarian and pancreatic cancers (PMID: 29335924 (2018), 28324225 (2017), 27741520 (2016), 26350514 (2015), 24312913 (2013), 21989927 (2012), 23199084 (2010)). Based on the available information, this variant is classified as pathogenic. (less)
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Pathogenic
(Jan 11, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000075572.15
First in ClinVar: Jul 03, 2013 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Gln563*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Gln563*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is present in population databases (rs80356898, gnomAD 0.005%). This premature translational stop signal has been observed in individual(s) with breast, ovarian, and pancreatic cancer (PMID: 21989927, 23199084, 24312913, 25330149, 25948282, 26852130). This variant is also known as 1806C>T. ClinVar contains an entry for this variant (Variation ID: 37426). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Jan 04, 2024)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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All of Us Research Program, National Institutes of Health
Accession: SCV004818298.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
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Comment:
This variant changes 1 nucleotide in exon 10 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in … (more)
This variant changes 1 nucleotide in exon 10 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in individuals affected with breast and/or ovarian cancer and in hereditary breast and ovarian cancer families (PMID: 20373018, 23479189, 24504028, 24728189, 25066507, 25330149, 26083025, 26219728, 26350514, 26852130, 27425403, 27741520, 28324225, 29335924, 30606148). This variant also has been detected in a breast cancer case-control meta-analysis in 12/60466 cases and 4/53461 unaffected individuals (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA1_000161). This variant has been identified in 7/250426 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
Number of individuals with the variant: 8
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Pathogenic
(May 26, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000186952.8
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
The p.Q563* pathogenic mutation (also known as c.1687C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at … (more)
The p.Q563* pathogenic mutation (also known as c.1687C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide position 1687. This changes the amino acid from a glutamine to a stop codon within coding exon 9. This mutation has been reported in numerous patients and families with hereditary breast and ovarian cancer (HBOC) syndrome (Shattuck-Eidens D et al. JAMA. 1995 Feb;273:535-41; Ghiorzo P et al. Fam. Cancer. 2012 Mar;11:41-7; Wong-Brown MW et al. Breast Cancer Res. Treat. 2015 Feb;150:71-80; Finch A et al. Clin. Genet. 2016 Mar;89:304-11; Fernandes GC et al. Oncotarget. 2016 Dec;7:80465-80481; Cotrim DP et al. BMC Cancer. 2019 Jan;19(1):4). This alteration has been described as a European founder mutation, having been detected in Austrian, Slovenian, Swedish and Polish populations (Janaviius R. EPMA J. 2010 Sep;1:397-412; Kluska A et al. BMC Med. Genomics. 2015 May;8:19). Of note, this alteration is also designated as 1806C>T in published literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
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Pathogenic
(Mar 08, 2024)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics Laboratory, Skane University Hospital Lund
Accession: SCV005199747.1
First in ClinVar: Aug 25, 2024 Last updated: Aug 25, 2024 |
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Pathogenic
(Dec 07, 2023)
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no assertion criteria provided
Method: clinical testing
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BRCA1-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004733048.2
First in ClinVar: Mar 16, 2024 Last updated: Oct 08, 2024 |
Comment:
The BRCA1 c.1687C>T variant is predicted to result in premature protein termination (p.Gln563*). This variant (also known as c.1806C>T in the literature) has been reported … (more)
The BRCA1 c.1687C>T variant is predicted to result in premature protein termination (p.Gln563*). This variant (also known as c.1806C>T in the literature) has been reported to be causative for breast, ovarian, and pancreatic cancer (Shattuck-Eidens et al. 1995. PubMed ID: 7837387; Susswein et al. 2016. PubMed ID: 26681312, Table S1; Ghiorzo et al. 2012. PubMed ID: 21989927; Schrader et al. 2012. PubMed ID: 22776961). This variant is reported in 0.0062% of alleles in individuals of European (Non-Finnish) descent in gnomAD and is interpreted as pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/37426/). Nonsense variants in BRCA1 are expected to be pathogenic. This variant is interpreted as pathogenic. (less)
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Pathogenic
(Feb 11, 2015)
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no assertion criteria provided
(clinical testing)
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
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Institute of Human Genetics, Medical University Innsbruck
Study: BRCA-Tyrol
Accession: SCV000211992.1 First in ClinVar: Mar 03, 2015 Last updated: Mar 03, 2015
Comment:
BRCA-mutation spectrum Western Austria
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Number of individuals with the variant: 3
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000733653.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
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Pathogenic
(Nov 23, 2018)
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no assertion criteria provided
Method: clinical testing
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Familial cancer of breast
Affected status: yes
Allele origin:
germline
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Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
Accession: SCV000925893.1
First in ClinVar: Jul 15, 2019 Last updated: Jul 15, 2019 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001906050.1 First in ClinVar: Sep 25, 2021 Last updated: Sep 25, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001956616.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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Pathogenic
(Aug 26, 2022)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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BRCAlab, Lund University
Accession: SCV002589085.1
First in ClinVar: Apr 01, 2023 Last updated: Apr 01, 2023 |
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Pathogenic
(Jan 13, 2014)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
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Sharing Clinical Reports Project (SCRP)
Accession: SCV000053600.6
First in ClinVar: Apr 04, 2013 Last updated: Jun 24, 2016 |
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Pathogenic
(Jan 31, 2014)
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no assertion criteria provided
Method: research
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Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
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Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587157.1 First in ClinVar: Aug 05, 2017 Last updated: Aug 05, 2017 |
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Pathogenic
(Dec 01, 2018)
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no assertion criteria provided
Method: research
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Ovarian neoplasm
Affected status: yes
Allele origin:
germline
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German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne
Accession: SCV000923775.1
First in ClinVar: Jun 17, 2019 Last updated: Jun 17, 2019 |
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Pathogenic
(Jun 11, 2019)
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no assertion criteria provided
Method: clinical testing
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Breast and/or ovarian cancer
Affected status: yes
Allele origin:
germline
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CZECANCA consortium
Accession: SCV001451771.1
First in ClinVar: Dec 26, 2020 Last updated: Dec 26, 2020 |
Number of individuals with the variant: 15
Ethnicity/Population group: Slavic
Geographic origin: Czech Republic
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
unknown
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Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000591346.2 First in ClinVar: Aug 27, 2017 Last updated: Apr 13, 2021 |
Comment:
The BRCA1 p.Gln563* variant was identified in 13 of 4212 proband chromosomes (frequency: 0.003) from individuals or families with breast or ovarian cancer and was … (more)
The BRCA1 p.Gln563* variant was identified in 13 of 4212 proband chromosomes (frequency: 0.003) from individuals or families with breast or ovarian cancer and was present in 1 of 2600 control chromosomes (frequency: 0.0004) from healthy individuals (Alemar 2016, Cybulski 2015, Fernandes 2016, Jakimovska 2018, Kluska 2015, Maistro 2016, Meisel 2017). The variant was also identified in dbSNP (ID: rs80356898) as "With Pathogenic allele", ClinVar (classified as pathogenic by 23 submitters), LOVD 3.0 (49x as pathogenic), and UMD-LSDB (12x as causal). The variant was identified in control databases in 6 of 245302 chromosomes at a frequency of 0.00002 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the European population in 6 of 111186 chromosomes (freq: 0.00005), while it was not observed in the African, Other, Latino, Ashkenazi Jewish, East Asian, Finnish, or South Asian populations. The c.1687C>T variant leads to a premature stop codon at position 563, which is predicted to lead to a truncated or absent protein and loss of function. Loss of function variants of the BRCA1 gene are an established mechanism of disease in HBOC and is the type of variant expected to cause the disorder. In addition, one study demonstrated that this variant results in nonsense-mediated decay (Perrin-Vidoz 2002). In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic. (less)
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001974923.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021 |
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Pathogenic
(Feb 21, 2023)
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no assertion criteria provided
Method: clinical testing
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Endometrial carcinoma
Affected status: yes
Allele origin:
germline
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CZECANCA consortium
Accession: SCV003804344.1
First in ClinVar: Feb 25, 2023 Last updated: Feb 25, 2023 |
Number of individuals with the variant: 1
Ethnicity/Population group: Slavic
Geographic origin: Czech Republic
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Pathogenic
(May 24, 2021)
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no assertion criteria provided
Method: case-control
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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Molecular Oncology, Hospital Universitario Central de Asturias (HUCA)
Accession: SCV005061279.1
First in ClinVar: Oct 13, 2024 Last updated: Oct 13, 2024 |
Secondary finding: no
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not provided
(-)
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no classification provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline,
unknown
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144157.2
First in ClinVar: Apr 01, 2014 Last updated: Mar 03, 2015 |
Observation 1:
Number of individuals with the variant: 37
Observation 2:
Number of individuals with the variant: 5
Geographic origin: Austria
Observation 3:
Number of individuals with the variant: 1
Geographic origin: Central/Eastern European
Observation 4:
Number of individuals with the variant: 1
Geographic origin: Denmark
Observation 5:
Number of individuals with the variant: 2
Geographic origin: Netherlands
Observation 6:
Number of individuals with the variant: 1
Geographic origin: Italy
Observation 7:
Number of individuals with the variant: 6
Geographic origin: Sweden
Observation 8:
Number of individuals with the variant: 3
Geographic origin: Western European
Observation 9:
Number of individuals with the variant: 1
Ethnicity/Population group: African
Observation 10:
Number of individuals with the variant: 1
Ethnicity/Population group: Asian
Observation 11:
Number of individuals with the variant: 4
Ethnicity/Population group: Austrian
Geographic origin: Austria
Observation 12:
Number of individuals with the variant: 4
Ethnicity/Population group: Caucasian
Geographic origin: Czech Republic
Observation 13:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Germany
Observation 14:
Number of individuals with the variant: 2
Ethnicity/Population group: Caucasian
Geographic origin: Italy
Observation 15:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Spain
Observation 16:
Number of individuals with the variant: 5
Ethnicity/Population group: Central/Eastern European
Observation 17:
Number of individuals with the variant: 1
Ethnicity/Population group: French
Observation 18:
Number of individuals with the variant: 1
Ethnicity/Population group: French Canadian, Austrian
Observation 19:
Number of individuals with the variant: 1
Ethnicity/Population group: French, Swedish
Observation 20:
Number of individuals with the variant: 2
Ethnicity/Population group: German
Observation 21:
Number of individuals with the variant: 1
Ethnicity/Population group: Polish
Observation 22:
Number of individuals with the variant: 1
Ethnicity/Population group: Swedish, Danish
Observation 23:
Number of individuals with the variant: 21
Ethnicity/Population group: Western European
Observation 24:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: American
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Comment:
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed in individuals with a personal or family history consistent with pathogenic variants in this gene (Janavicius 2010, Ghiorzo 2012, Karami 2013, Meisel 2017); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Not observed at a significant frequency in large population cohorts (gnomAD); Also known as 1806C>T; This variant is associated with the following publications: (PMID: 24312913, 15024741, 15876480, 20373018, 21989927, 22776961, 24504028, 12566964, 11504767, 9663595, 23397983, 25948282, 26852130, 25525159, 18439106, 26843898, 27003155, 27376475, 27425403, 27194814, 7837387, 27914478, 27741520, 27836010, 28123851, 28127413, 28166811, 28281021, 28324225, 26681312, 28857155, 29339979, 29335924, 29907814, 29346284, 11251181, 29161300, 30103829, 30606148, 29446198, 30720243, 30322717, 31589614, 32341426, 33087929, 23199084)
Comment:
PVS1; PM5_PTC_Strong
Comment:
The p.Gln563X variant in BRCA1 (also referred to as 1806C>T) has been reported in >100 individuals with BRCA1-associated cancers (Shattuck-Eidens 1995, Wagner 1998, Pohlreich 2003, Foretova 2004, Salazar 2006, Krajc 2008, Janav 2010, Zuradelli 2010, Blay 2013, Cunningham 2014, Kluska 2015, Cini 2016, Breast Cancer Information Core (BIC) database). It was also identified in 5/66568 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs80356898); however, this frequency is low enough to be consistent with the frequency of hereditary breast and ovarian cancer (HBOC) in the general population. This nonsense variant leads to a premature termination codon at position 563, which is predicted to lead to a truncated or absent protein. Heterozygous loss of function of the BRCA1 gene is an established disease mechanism in HBOC. Furthermore, this variant was classified as Pathogenic on April 22, 2016 by the ClinGen-approved ENIGMA expert panel (ClinVar SCV000282262.1). In summary, this variant meets criteria to be classified as pathogenic for HBOC in an autosomal dominant manner. PVS1, PM2, PS4.
Comment:
The BRCA1 c.1687C>T; p.Gln563Ter variant (rs80356898), also known as 1806C>T, has been reported in multiple individuals with breast and/or ovarian cancer (Cunningham 2014, Maistro 2016, Shattuck-Eidens 1995, Wagner 1998). It is listed as pathogenic in ClinVar (Variation ID: 37426), and observed 6 times in the Genome Aggregation Database population database (6/245302 alleles). The variant introduces a premature termination codon, and is predicted to result in a truncated protein or an absent transcript. Based on the above information, the variant is classified as pathogenic. References: Cunningham J et al. Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status. Sci Rep. 2014; 4:4026. Maistro S et al. Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil. BMC Cancer. 2016; 16(1):934. Shattuck-Eidens D et al. A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening. JAMA. 1995; 273(7):535-41. Wagner T et al. BRCA1-related breast cancer in Austrian breast and ovarian cancer families: specific BRCA1 mutations and pathological characteristics. Int J Cancer. 1998; 77(3):354-60.
Comment:
ACMG classification criteria: PVS1 very strong, PVS1, PS3 supporting, PS4 strong, PS4, PM2
Comment:
_x000D_ Criteria applied: PVS1, PS4
Comment:
ACMG criteria used to clasify this variant:PVS1, PS4_SUP, PM2_SUP
Comment:
This variant changes 1 nucleotide in exon 10 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in individuals affected with breast and/or ovarian cancer and in hereditary breast and ovarian cancer families (PMID: 20373018, 23479189, 24504028, 24728189, 25066507, 25330149, 26083025, 26219728, 26350514, 26852130, 27425403, 27741520, 28324225, 29335924, 30606148). This variant also has been detected in a breast cancer case-control meta-analysis in 12/60466 cases and 4/53461 unaffected individuals (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA1_000161). This variant has been identified in 7/250426 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Comment:
Variant summary: The BRCA1 c.1687C>T (p.Gln563X) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. This variant was found in 5/121138 control chromosomes at a frequency of 0.0000413, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). These occurrences need to be cautiously considered due to the cohort could harbor individuals with a BRCA1 phenotype. This variant has been reported in multiple HBOC patients and multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Comment:
This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS1.
Comment:
The c.1687C>T;p.(Gln563*) variant creates a premature translational stop signal in the BRCA1 gene. It is expected to result in an absent or disrupted protein product - PVS1. Well-established in vitro or in vivo functional studies supportive of a damaging effect on the gene or gene product (PMID: 12393792) - PS3_supporting. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 37426; PMID: 23199084; PMID: 24312913; PMID: 21989927; PMID: 25330149; PMID: 25948282; PMID: 26852130; PMID: 12393792) - PS4. The variant is present at low allele frequencies population databases (rs80356898 – gnomAD 0.0002795%; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2_supporting. In summary, the currently available evidence indicates that the variant is pathogenic.
Comment:
PVS1, PS3, PS4_STR
Comment:
This nonsense variant causes the premature termination of BRCA1 protein synthesis. In addition, it has been reported in patients with breast, ovarian and pancreatic cancers (PMID: 29335924 (2018), 28324225 (2017), 27741520 (2016), 26350514 (2015), 24312913 (2013), 21989927 (2012), 23199084 (2010)). Based on the available information, this variant is classified as pathogenic.
Comment:
This sequence change creates a premature translational stop signal (p.Gln563*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is present in population databases (rs80356898, gnomAD 0.005%). This premature translational stop signal has been observed in individual(s) with breast, ovarian, and pancreatic cancer (PMID: 21989927, 23199084, 24312913, 25330149, 25948282, 26852130). This variant is also known as 1806C>T. ClinVar contains an entry for this variant (Variation ID: 37426). For these reasons, this variant has been classified as Pathogenic.
Comment:
This variant changes 1 nucleotide in exon 10 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in individuals affected with breast and/or ovarian cancer and in hereditary breast and ovarian cancer families (PMID: 20373018, 23479189, 24504028, 24728189, 25066507, 25330149, 26083025, 26219728, 26350514, 26852130, 27425403, 27741520, 28324225, 29335924, 30606148). This variant also has been detected in a breast cancer case-control meta-analysis in 12/60466 cases and 4/53461 unaffected individuals (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA1_000161). This variant has been identified in 7/250426 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Comment:
The p.Q563* pathogenic mutation (also known as c.1687C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide position 1687. This changes the amino acid from a glutamine to a stop codon within coding exon 9. This mutation has been reported in numerous patients and families with hereditary breast and ovarian cancer (HBOC) syndrome (Shattuck-Eidens D et al. JAMA. 1995 Feb;273:535-41; Ghiorzo P et al. Fam. Cancer. 2012 Mar;11:41-7; Wong-Brown MW et al. Breast Cancer Res. Treat. 2015 Feb;150:71-80; Finch A et al. Clin. Genet. 2016 Mar;89:304-11; Fernandes GC et al. Oncotarget. 2016 Dec;7:80465-80481; Cotrim DP et al. BMC Cancer. 2019 Jan;19(1):4). This alteration has been described as a European founder mutation, having been detected in Austrian, Slovenian, Swedish and Polish populations (Janaviius R. EPMA J. 2010 Sep;1:397-412; Kluska A et al. BMC Med. Genomics. 2015 May;8:19). Of note, this alteration is also designated as 1806C>T in published literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Comment:
The BRCA1 c.1687C>T variant is predicted to result in premature protein termination (p.Gln563*). This variant (also known as c.1806C>T in the literature) has been reported to be causative for breast, ovarian, and pancreatic cancer (Shattuck-Eidens et al. 1995. PubMed ID: 7837387; Susswein et al. 2016. PubMed ID: 26681312, Table S1; Ghiorzo et al. 2012. PubMed ID: 21989927; Schrader et al. 2012. PubMed ID: 22776961). This variant is reported in 0.0062% of alleles in individuals of European (Non-Finnish) descent in gnomAD and is interpreted as pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/37426/). Nonsense variants in BRCA1 are expected to be pathogenic. This variant is interpreted as pathogenic.
Comment:
The BRCA1 p.Gln563* variant was identified in 13 of 4212 proband chromosomes (frequency: 0.003) from individuals or families with breast or ovarian cancer and was present in 1 of 2600 control chromosomes (frequency: 0.0004) from healthy individuals (Alemar 2016, Cybulski 2015, Fernandes 2016, Jakimovska 2018, Kluska 2015, Maistro 2016, Meisel 2017). The variant was also identified in dbSNP (ID: rs80356898) as "With Pathogenic allele", ClinVar (classified as pathogenic by 23 submitters), LOVD 3.0 (49x as pathogenic), and UMD-LSDB (12x as causal). The variant was identified in control databases in 6 of 245302 chromosomes at a frequency of 0.00002 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the European population in 6 of 111186 chromosomes (freq: 0.00005), while it was not observed in the African, Other, Latino, Ashkenazi Jewish, East Asian, Finnish, or South Asian populations. The c.1687C>T variant leads to a premature stop codon at position 563, which is predicted to lead to a truncated or absent protein and loss of function. Loss of function variants of the BRCA1 gene are an established mechanism of disease in HBOC and is the type of variant expected to cause the disorder. In addition, one study demonstrated that this variant results in nonsense-mediated decay (Perrin-Vidoz 2002). In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic.
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed in individuals with a personal or family history consistent with pathogenic variants in this gene (Janavicius 2010, Ghiorzo 2012, Karami 2013, Meisel 2017); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Not observed at a significant frequency in large population cohorts (gnomAD); Also known as 1806C>T; This variant is associated with the following publications: (PMID: 24312913, 15024741, 15876480, 20373018, 21989927, 22776961, 24504028, 12566964, 11504767, 9663595, 23397983, 25948282, 26852130, 25525159, 18439106, 26843898, 27003155, 27376475, 27425403, 27194814, 7837387, 27914478, 27741520, 27836010, 28123851, 28127413, 28166811, 28281021, 28324225, 26681312, 28857155, 29339979, 29335924, 29907814, 29346284, 11251181, 29161300, 30103829, 30606148, 29446198, 30720243, 30322717, 31589614, 32341426, 33087929, 23199084)
Comment:
PVS1; PM5_PTC_Strong
Comment:
The p.Gln563X variant in BRCA1 (also referred to as 1806C>T) has been reported in >100 individuals with BRCA1-associated cancers (Shattuck-Eidens 1995, Wagner 1998, Pohlreich 2003, Foretova 2004, Salazar 2006, Krajc 2008, Janav 2010, Zuradelli 2010, Blay 2013, Cunningham 2014, Kluska 2015, Cini 2016, Breast Cancer Information Core (BIC) database). It was also identified in 5/66568 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs80356898); however, this frequency is low enough to be consistent with the frequency of hereditary breast and ovarian cancer (HBOC) in the general population. This nonsense variant leads to a premature termination codon at position 563, which is predicted to lead to a truncated or absent protein. Heterozygous loss of function of the BRCA1 gene is an established disease mechanism in HBOC. Furthermore, this variant was classified as Pathogenic on April 22, 2016 by the ClinGen-approved ENIGMA expert panel (ClinVar SCV000282262.1). In summary, this variant meets criteria to be classified as pathogenic for HBOC in an autosomal dominant manner. PVS1, PM2, PS4.
Comment:
The BRCA1 c.1687C>T; p.Gln563Ter variant (rs80356898), also known as 1806C>T, has been reported in multiple individuals with breast and/or ovarian cancer (Cunningham 2014, Maistro 2016, Shattuck-Eidens 1995, Wagner 1998). It is listed as pathogenic in ClinVar (Variation ID: 37426), and observed 6 times in the Genome Aggregation Database population database (6/245302 alleles). The variant introduces a premature termination codon, and is predicted to result in a truncated protein or an absent transcript. Based on the above information, the variant is classified as pathogenic. References: Cunningham J et al. Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status. Sci Rep. 2014; 4:4026. Maistro S et al. Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil. BMC Cancer. 2016; 16(1):934. Shattuck-Eidens D et al. A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening. JAMA. 1995; 273(7):535-41. Wagner T et al. BRCA1-related breast cancer in Austrian breast and ovarian cancer families: specific BRCA1 mutations and pathological characteristics. Int J Cancer. 1998; 77(3):354-60.
Comment:
ACMG classification criteria: PVS1 very strong, PVS1, PS3 supporting, PS4 strong, PS4, PM2
Comment:
_x000D_ Criteria applied: PVS1, PS4
Comment:
ACMG criteria used to clasify this variant:PVS1, PS4_SUP, PM2_SUP
Comment:
This variant changes 1 nucleotide in exon 10 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in individuals affected with breast and/or ovarian cancer and in hereditary breast and ovarian cancer families (PMID: 20373018, 23479189, 24504028, 24728189, 25066507, 25330149, 26083025, 26219728, 26350514, 26852130, 27425403, 27741520, 28324225, 29335924, 30606148). This variant also has been detected in a breast cancer case-control meta-analysis in 12/60466 cases and 4/53461 unaffected individuals (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA1_000161). This variant has been identified in 7/250426 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Comment:
Variant summary: The BRCA1 c.1687C>T (p.Gln563X) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. This variant was found in 5/121138 control chromosomes at a frequency of 0.0000413, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). These occurrences need to be cautiously considered due to the cohort could harbor individuals with a BRCA1 phenotype. This variant has been reported in multiple HBOC patients and multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Comment:
This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS1.
Comment:
The c.1687C>T;p.(Gln563*) variant creates a premature translational stop signal in the BRCA1 gene. It is expected to result in an absent or disrupted protein product - PVS1. Well-established in vitro or in vivo functional studies supportive of a damaging effect on the gene or gene product (PMID: 12393792) - PS3_supporting. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 37426; PMID: 23199084; PMID: 24312913; PMID: 21989927; PMID: 25330149; PMID: 25948282; PMID: 26852130; PMID: 12393792) - PS4. The variant is present at low allele frequencies population databases (rs80356898 – gnomAD 0.0002795%; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2_supporting. In summary, the currently available evidence indicates that the variant is pathogenic.
Comment:
PVS1, PS3, PS4_STR
Comment:
This nonsense variant causes the premature termination of BRCA1 protein synthesis. In addition, it has been reported in patients with breast, ovarian and pancreatic cancers (PMID: 29335924 (2018), 28324225 (2017), 27741520 (2016), 26350514 (2015), 24312913 (2013), 21989927 (2012), 23199084 (2010)). Based on the available information, this variant is classified as pathogenic.
Comment:
This sequence change creates a premature translational stop signal (p.Gln563*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is present in population databases (rs80356898, gnomAD 0.005%). This premature translational stop signal has been observed in individual(s) with breast, ovarian, and pancreatic cancer (PMID: 21989927, 23199084, 24312913, 25330149, 25948282, 26852130). This variant is also known as 1806C>T. ClinVar contains an entry for this variant (Variation ID: 37426). For these reasons, this variant has been classified as Pathogenic.
Comment:
This variant changes 1 nucleotide in exon 10 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in individuals affected with breast and/or ovarian cancer and in hereditary breast and ovarian cancer families (PMID: 20373018, 23479189, 24504028, 24728189, 25066507, 25330149, 26083025, 26219728, 26350514, 26852130, 27425403, 27741520, 28324225, 29335924, 30606148). This variant also has been detected in a breast cancer case-control meta-analysis in 12/60466 cases and 4/53461 unaffected individuals (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA1_000161). This variant has been identified in 7/250426 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Comment:
The p.Q563* pathogenic mutation (also known as c.1687C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide position 1687. This changes the amino acid from a glutamine to a stop codon within coding exon 9. This mutation has been reported in numerous patients and families with hereditary breast and ovarian cancer (HBOC) syndrome (Shattuck-Eidens D et al. JAMA. 1995 Feb;273:535-41; Ghiorzo P et al. Fam. Cancer. 2012 Mar;11:41-7; Wong-Brown MW et al. Breast Cancer Res. Treat. 2015 Feb;150:71-80; Finch A et al. Clin. Genet. 2016 Mar;89:304-11; Fernandes GC et al. Oncotarget. 2016 Dec;7:80465-80481; Cotrim DP et al. BMC Cancer. 2019 Jan;19(1):4). This alteration has been described as a European founder mutation, having been detected in Austrian, Slovenian, Swedish and Polish populations (Janaviius R. EPMA J. 2010 Sep;1:397-412; Kluska A et al. BMC Med. Genomics. 2015 May;8:19). Of note, this alteration is also designated as 1806C>T in published literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Comment:
The BRCA1 c.1687C>T variant is predicted to result in premature protein termination (p.Gln563*). This variant (also known as c.1806C>T in the literature) has been reported to be causative for breast, ovarian, and pancreatic cancer (Shattuck-Eidens et al. 1995. PubMed ID: 7837387; Susswein et al. 2016. PubMed ID: 26681312, Table S1; Ghiorzo et al. 2012. PubMed ID: 21989927; Schrader et al. 2012. PubMed ID: 22776961). This variant is reported in 0.0062% of alleles in individuals of European (Non-Finnish) descent in gnomAD and is interpreted as pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/37426/). Nonsense variants in BRCA1 are expected to be pathogenic. This variant is interpreted as pathogenic.
Comment:
The BRCA1 p.Gln563* variant was identified in 13 of 4212 proband chromosomes (frequency: 0.003) from individuals or families with breast or ovarian cancer and was present in 1 of 2600 control chromosomes (frequency: 0.0004) from healthy individuals (Alemar 2016, Cybulski 2015, Fernandes 2016, Jakimovska 2018, Kluska 2015, Maistro 2016, Meisel 2017). The variant was also identified in dbSNP (ID: rs80356898) as "With Pathogenic allele", ClinVar (classified as pathogenic by 23 submitters), LOVD 3.0 (49x as pathogenic), and UMD-LSDB (12x as causal). The variant was identified in control databases in 6 of 245302 chromosomes at a frequency of 0.00002 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the European population in 6 of 111186 chromosomes (freq: 0.00005), while it was not observed in the African, Other, Latino, Ashkenazi Jewish, East Asian, Finnish, or South Asian populations. The c.1687C>T variant leads to a premature stop codon at position 563, which is predicted to lead to a truncated or absent protein and loss of function. Loss of function variants of the BRCA1 gene are an established mechanism of disease in HBOC and is the type of variant expected to cause the disorder. In addition, one study demonstrated that this variant results in nonsense-mediated decay (Perrin-Vidoz 2002). In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Featuring BRCA1 and BRCA2 germline mutational landscape from Asturias (North Spain). | Pitiot AS | Clinical genetics | 2024 | PMID: 38922859 |
| Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service. | Matta BP | Scientific reports | 2022 | PMID: 36329109 |
| Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. | Breast Cancer Association Consortium | The New England journal of medicine | 2021 | PMID: 33471991 |
| Prevalence of BRCA1 and BRCA2 pathogenic and likely pathogenic variants in non-selected ovarian carcinoma patients in Brazil. | Cotrim DP | BMC cancer | 2019 | PMID: 30606148 |
| Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
| BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway. | Heramb C | Hereditary cancer in clinical practice | 2018 | PMID: 29339979 |
| BRCA1 and BRCA2 germline variants in breast cancer patients from the Republic of Macedonia. | Jakimovska M | Breast cancer research and treatment | 2018 | PMID: 29335924 |
| BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population? | Alemar B | PloS one | 2017 | PMID: 29161300 |
| Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study. | Meisel C | Archives of gynecology and obstetrics | 2017 | PMID: 28324225 |
| Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry. | Fernandes GC | Oncotarget | 2016 | PMID: 27741520 |
| Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations. | Alemar B | Cancer genetics | 2016 | PMID: 27425403 |
| Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy. | Cini G | BMC medical genetics | 2016 | PMID: 26852130 |
| BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study. | Høberg-Vetti H | European journal of human genetics : EJHG | 2016 | PMID: 26350514 |
| Genetic testing for BRCA1 and BRCA2 in the Province of Ontario. | Finch A | Clinical genetics | 2016 | PMID: 26219728 |
| Prevalence of Germline Mutations in Genes Engaged in DNA Damage Repair by Homologous Recombination in Patients with Triple-Negative and Hereditary Non-Triple-Negative Breast Cancers. | Domagala P | PloS one | 2015 | PMID: 26083025 |
| New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing. | Kluska A | BMC medical genomics | 2015 | PMID: 25948282 |
| Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer. | Wong-Brown MW | Breast cancer research and treatment | 2015 | PMID: 25682074 |
| Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland. | Cybulski C | Clinical genetics | 2015 | PMID: 25330149 |
| Comprehensive BRCA1 and BRCA2 mutational profile in Lithuania. | Janavičius R | Cancer genetics | 2014 | PMID: 25066507 |
| The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. | Song H | Human molecular genetics | 2014 | PMID: 24728189 |
| Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status. | Cunningham JM | Scientific reports | 2014 | PMID: 24504028 |
| A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer. | Karami F | BioMed research international | 2013 | PMID: 24312913 |
| Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain). | Blay P | BMC cancer | 2013 | PMID: 23683081 |
| Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence. | de Juan Jiménez I | Familial cancer | 2013 | PMID: 23479189 |
| Germline BRCA1 and BRCA2 mutations in ovarian cancer: utility of a histology-based referral strategy. | Schrader KA | Obstetrics and gynecology | 2012 | PMID: 22776961 |
| Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy. | Ghiorzo P | Familial cancer | 2012 | PMID: 21989927 |
| The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population. | Stegel V | BMC medical genetics | 2011 | PMID: 21232165 |
| Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. | Janavičius R | The EPMA journal | 2010 | PMID: 23199084 |
| Four new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations: clinical, pathological, and family characteristics. | Zuradelli M | Breast cancer research and treatment | 2010 | PMID: 20373018 |
| Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
| Genetic services have value beyond BRCA1/2 testing. | Hall MJ | Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2009 | PMID: 19208665 |
| Novel and common BRCA1 mutations in familial breast/ovarian cancer patients from Lithuania. | Janavicius R | Breast cancer research and treatment | 2009 | PMID: 18763032 |
| Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families. | Krajc M | BMC medical genetics | 2008 | PMID: 18783588 |
| BRCA1-2 mutations in breast cancer: identification of nine new variants of BRCA1-2 genes in a population from central Western Spain. | Salazar R | Cancer letters | 2006 | PMID: 15876480 |
| High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area. | Pohlreich P | Breast cancer research : BCR | 2005 | PMID: 16168118 |
| Relation of contraceptive and reproductive history to ovarian cancer risk in carriers and noncarriers of BRCA1 gene mutations. | McGuire V | American journal of epidemiology | 2004 | PMID: 15383404 |
| BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic. | Foretova L | Human mutation | 2004 | PMID: 15024741 |
| Mutations of the BRCA1 gene in hereditary breast and ovarian cancer in the Czech Republic. | Pohlreich P | Medical principles and practice : international journal of the Kuwait University, Health Science Centre | 2003 | PMID: 12566964 |
| The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. | Perrin-Vidoz L | Human molecular genetics | 2002 | PMID: 12393792 |
| Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer. | Loman N | Journal of the National Cancer Institute | 2001 | PMID: 11504767 |
| BRCA1 and BRCA2 mutations among Finnish ovarian carcinoma families. | Sarantaus L | International journal of oncology | 2001 | PMID: 11251181 |
| BRCA1-related breast cancer in Austrian breast and ovarian cancer families: specific BRCA1 mutations and pathological characteristics. | Wagner TM | International journal of cancer | 1998 | PMID: 9663595 |
| Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden. | Johannsson O | American journal of human genetics | 1996 | PMID: 8644702 |
| A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening. | Shattuck-Eidens D | JAMA | 1995 | PMID: 7837387 |
| Wagner et al. Int. J. Cancer, in press | - | - | - | - |
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Text-mined citations for rs80356898 ...
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Record last updated Nov 03, 2024
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