Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.3964A>T (p.Lys1322Ter)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Sep 2016 by
Evidence-based…
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.3964A>T (p.Lys1322Ter)
Variation ID: 55059 Accession: VCV000055059.14
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43091567 (GRCh38) [ NCBI UCSC ] 17: 41243584 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 Apr 1, 2014 May 1, 2024 Sep 8, 2016 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.3964A>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Lys1322Ter nonsense NM_001407571.1:c.3751A>T NP_001394500.1:p.Lys1251Ter nonsense NM_001407581.1:c.3964A>T NP_001394510.1:p.Lys1322Ter nonsense NM_001407582.1:c.3964A>T NP_001394511.1:p.Lys1322Ter nonsense NM_001407583.1:c.3964A>T NP_001394512.1:p.Lys1322Ter nonsense NM_001407585.1:c.3964A>T NP_001394514.1:p.Lys1322Ter nonsense NM_001407587.1:c.3961A>T NP_001394516.1:p.Lys1321Ter nonsense NM_001407590.1:c.3961A>T NP_001394519.1:p.Lys1321Ter nonsense NM_001407591.1:c.3961A>T NP_001394520.1:p.Lys1321Ter nonsense NM_001407593.1:c.3964A>T NP_001394522.1:p.Lys1322Ter nonsense NM_001407594.1:c.3964A>T NP_001394523.1:p.Lys1322Ter nonsense NM_001407596.1:c.3964A>T NP_001394525.1:p.Lys1322Ter nonsense NM_001407597.1:c.3964A>T NP_001394526.1:p.Lys1322Ter nonsense NM_001407598.1:c.3964A>T NP_001394527.1:p.Lys1322Ter nonsense NM_001407602.1:c.3964A>T NP_001394531.1:p.Lys1322Ter nonsense NM_001407603.1:c.3964A>T NP_001394532.1:p.Lys1322Ter nonsense NM_001407605.1:c.3964A>T NP_001394534.1:p.Lys1322Ter nonsense NM_001407610.1:c.3961A>T NP_001394539.1:p.Lys1321Ter nonsense NM_001407611.1:c.3961A>T NP_001394540.1:p.Lys1321Ter nonsense NM_001407612.1:c.3961A>T NP_001394541.1:p.Lys1321Ter nonsense NM_001407613.1:c.3961A>T NP_001394542.1:p.Lys1321Ter nonsense NM_001407614.1:c.3961A>T NP_001394543.1:p.Lys1321Ter nonsense NM_001407615.1:c.3961A>T NP_001394544.1:p.Lys1321Ter nonsense NM_001407616.1:c.3964A>T NP_001394545.1:p.Lys1322Ter nonsense NM_001407617.1:c.3964A>T NP_001394546.1:p.Lys1322Ter nonsense NM_001407618.1:c.3964A>T NP_001394547.1:p.Lys1322Ter nonsense NM_001407619.1:c.3964A>T NP_001394548.1:p.Lys1322Ter nonsense NM_001407620.1:c.3964A>T NP_001394549.1:p.Lys1322Ter nonsense NM_001407621.1:c.3964A>T NP_001394550.1:p.Lys1322Ter nonsense NM_001407622.1:c.3964A>T NP_001394551.1:p.Lys1322Ter nonsense NM_001407623.1:c.3964A>T NP_001394552.1:p.Lys1322Ter nonsense NM_001407624.1:c.3964A>T NP_001394553.1:p.Lys1322Ter nonsense NM_001407625.1:c.3964A>T NP_001394554.1:p.Lys1322Ter nonsense NM_001407626.1:c.3964A>T NP_001394555.1:p.Lys1322Ter nonsense NM_001407627.1:c.3961A>T NP_001394556.1:p.Lys1321Ter nonsense NM_001407628.1:c.3961A>T NP_001394557.1:p.Lys1321Ter nonsense NM_001407629.1:c.3961A>T NP_001394558.1:p.Lys1321Ter nonsense NM_001407630.1:c.3961A>T NP_001394559.1:p.Lys1321Ter nonsense NM_001407631.1:c.3961A>T NP_001394560.1:p.Lys1321Ter nonsense NM_001407632.1:c.3961A>T NP_001394561.1:p.Lys1321Ter nonsense NM_001407633.1:c.3961A>T NP_001394562.1:p.Lys1321Ter nonsense NM_001407634.1:c.3961A>T NP_001394563.1:p.Lys1321Ter nonsense NM_001407635.1:c.3961A>T NP_001394564.1:p.Lys1321Ter nonsense NM_001407636.1:c.3961A>T NP_001394565.1:p.Lys1321Ter nonsense NM_001407637.1:c.3961A>T NP_001394566.1:p.Lys1321Ter nonsense NM_001407638.1:c.3961A>T NP_001394567.1:p.Lys1321Ter nonsense NM_001407639.1:c.3964A>T NP_001394568.1:p.Lys1322Ter nonsense NM_001407640.1:c.3964A>T NP_001394569.1:p.Lys1322Ter nonsense NM_001407641.1:c.3964A>T NP_001394570.1:p.Lys1322Ter nonsense NM_001407642.1:c.3964A>T NP_001394571.1:p.Lys1322Ter nonsense NM_001407644.1:c.3961A>T NP_001394573.1:p.Lys1321Ter nonsense NM_001407645.1:c.3961A>T NP_001394574.1:p.Lys1321Ter nonsense NM_001407646.1:c.3955A>T NP_001394575.1:p.Lys1319Ter nonsense NM_001407647.1:c.3955A>T NP_001394576.1:p.Lys1319Ter nonsense NM_001407648.1:c.3841A>T NP_001394577.1:p.Lys1281Ter nonsense NM_001407649.1:c.3838A>T NP_001394578.1:p.Lys1280Ter nonsense NM_001407652.1:c.3964A>T NP_001394581.1:p.Lys1322Ter nonsense NM_001407653.1:c.3886A>T NP_001394582.1:p.Lys1296Ter nonsense NM_001407654.1:c.3886A>T NP_001394583.1:p.Lys1296Ter nonsense NM_001407655.1:c.3886A>T NP_001394584.1:p.Lys1296Ter nonsense NM_001407656.1:c.3886A>T NP_001394585.1:p.Lys1296Ter nonsense NM_001407657.1:c.3886A>T NP_001394586.1:p.Lys1296Ter nonsense NM_001407658.1:c.3886A>T NP_001394587.1:p.Lys1296Ter nonsense NM_001407659.1:c.3883A>T NP_001394588.1:p.Lys1295Ter nonsense NM_001407660.1:c.3883A>T NP_001394589.1:p.Lys1295Ter nonsense NM_001407661.1:c.3883A>T NP_001394590.1:p.Lys1295Ter nonsense NM_001407662.1:c.3883A>T NP_001394591.1:p.Lys1295Ter nonsense NM_001407663.1:c.3886A>T NP_001394592.1:p.Lys1296Ter nonsense NM_001407664.1:c.3841A>T NP_001394593.1:p.Lys1281Ter nonsense NM_001407665.1:c.3841A>T NP_001394594.1:p.Lys1281Ter nonsense NM_001407666.1:c.3841A>T NP_001394595.1:p.Lys1281Ter nonsense NM_001407667.1:c.3841A>T NP_001394596.1:p.Lys1281Ter nonsense NM_001407668.1:c.3841A>T NP_001394597.1:p.Lys1281Ter nonsense NM_001407669.1:c.3841A>T NP_001394598.1:p.Lys1281Ter nonsense NM_001407670.1:c.3838A>T NP_001394599.1:p.Lys1280Ter nonsense NM_001407671.1:c.3838A>T NP_001394600.1:p.Lys1280Ter nonsense NM_001407672.1:c.3838A>T NP_001394601.1:p.Lys1280Ter nonsense NM_001407673.1:c.3838A>T NP_001394602.1:p.Lys1280Ter nonsense NM_001407674.1:c.3841A>T NP_001394603.1:p.Lys1281Ter nonsense NM_001407675.1:c.3841A>T NP_001394604.1:p.Lys1281Ter nonsense NM_001407676.1:c.3841A>T NP_001394605.1:p.Lys1281Ter nonsense NM_001407677.1:c.3841A>T NP_001394606.1:p.Lys1281Ter nonsense NM_001407678.1:c.3841A>T NP_001394607.1:p.Lys1281Ter nonsense NM_001407679.1:c.3841A>T NP_001394608.1:p.Lys1281Ter nonsense NM_001407680.1:c.3841A>T NP_001394609.1:p.Lys1281Ter nonsense NM_001407681.1:c.3841A>T NP_001394610.1:p.Lys1281Ter nonsense NM_001407682.1:c.3841A>T NP_001394611.1:p.Lys1281Ter nonsense NM_001407683.1:c.3841A>T NP_001394612.1:p.Lys1281Ter nonsense NM_001407684.1:c.3964A>T NP_001394613.1:p.Lys1322Ter nonsense NM_001407685.1:c.3838A>T NP_001394614.1:p.Lys1280Ter nonsense NM_001407686.1:c.3838A>T NP_001394615.1:p.Lys1280Ter nonsense NM_001407687.1:c.3838A>T NP_001394616.1:p.Lys1280Ter nonsense NM_001407688.1:c.3838A>T NP_001394617.1:p.Lys1280Ter nonsense NM_001407689.1:c.3838A>T NP_001394618.1:p.Lys1280Ter nonsense NM_001407690.1:c.3838A>T NP_001394619.1:p.Lys1280Ter nonsense NM_001407691.1:c.3838A>T NP_001394620.1:p.Lys1280Ter nonsense NM_001407692.1:c.3823A>T NP_001394621.1:p.Lys1275Ter nonsense NM_001407694.1:c.3823A>T NP_001394623.1:p.Lys1275Ter nonsense NM_001407695.1:c.3823A>T NP_001394624.1:p.Lys1275Ter nonsense NM_001407696.1:c.3823A>T NP_001394625.1:p.Lys1275Ter nonsense NM_001407697.1:c.3823A>T NP_001394626.1:p.Lys1275Ter nonsense NM_001407698.1:c.3823A>T NP_001394627.1:p.Lys1275Ter nonsense NM_001407724.1:c.3823A>T NP_001394653.1:p.Lys1275Ter nonsense NM_001407725.1:c.3823A>T NP_001394654.1:p.Lys1275Ter nonsense NM_001407726.1:c.3823A>T NP_001394655.1:p.Lys1275Ter nonsense NM_001407727.1:c.3823A>T NP_001394656.1:p.Lys1275Ter nonsense NM_001407728.1:c.3823A>T NP_001394657.1:p.Lys1275Ter nonsense NM_001407729.1:c.3823A>T NP_001394658.1:p.Lys1275Ter nonsense NM_001407730.1:c.3823A>T NP_001394659.1:p.Lys1275Ter nonsense NM_001407731.1:c.3823A>T NP_001394660.1:p.Lys1275Ter nonsense NM_001407732.1:c.3823A>T NP_001394661.1:p.Lys1275Ter nonsense NM_001407733.1:c.3823A>T NP_001394662.1:p.Lys1275Ter nonsense NM_001407734.1:c.3823A>T NP_001394663.1:p.Lys1275Ter nonsense NM_001407735.1:c.3823A>T NP_001394664.1:p.Lys1275Ter nonsense NM_001407736.1:c.3823A>T NP_001394665.1:p.Lys1275Ter nonsense NM_001407737.1:c.3823A>T NP_001394666.1:p.Lys1275Ter nonsense NM_001407738.1:c.3823A>T NP_001394667.1:p.Lys1275Ter nonsense NM_001407739.1:c.3823A>T NP_001394668.1:p.Lys1275Ter nonsense NM_001407740.1:c.3820A>T NP_001394669.1:p.Lys1274Ter nonsense NM_001407741.1:c.3820A>T NP_001394670.1:p.Lys1274Ter nonsense NM_001407742.1:c.3820A>T NP_001394671.1:p.Lys1274Ter nonsense NM_001407743.1:c.3820A>T NP_001394672.1:p.Lys1274Ter nonsense NM_001407744.1:c.3820A>T NP_001394673.1:p.Lys1274Ter nonsense NM_001407745.1:c.3820A>T NP_001394674.1:p.Lys1274Ter nonsense NM_001407746.1:c.3820A>T NP_001394675.1:p.Lys1274Ter nonsense NM_001407747.1:c.3820A>T NP_001394676.1:p.Lys1274Ter nonsense NM_001407748.1:c.3820A>T NP_001394677.1:p.Lys1274Ter nonsense NM_001407749.1:c.3820A>T NP_001394678.1:p.Lys1274Ter nonsense NM_001407750.1:c.3823A>T NP_001394679.1:p.Lys1275Ter nonsense NM_001407751.1:c.3823A>T NP_001394680.1:p.Lys1275Ter nonsense NM_001407752.1:c.3823A>T NP_001394681.1:p.Lys1275Ter nonsense NM_001407838.1:c.3820A>T NP_001394767.1:p.Lys1274Ter nonsense NM_001407839.1:c.3820A>T NP_001394768.1:p.Lys1274Ter nonsense NM_001407841.1:c.3820A>T NP_001394770.1:p.Lys1274Ter nonsense NM_001407842.1:c.3820A>T NP_001394771.1:p.Lys1274Ter nonsense NM_001407843.1:c.3820A>T NP_001394772.1:p.Lys1274Ter nonsense NM_001407844.1:c.3820A>T NP_001394773.1:p.Lys1274Ter nonsense NM_001407845.1:c.3820A>T NP_001394774.1:p.Lys1274Ter nonsense NM_001407846.1:c.3820A>T NP_001394775.1:p.Lys1274Ter nonsense NM_001407847.1:c.3820A>T NP_001394776.1:p.Lys1274Ter nonsense NM_001407848.1:c.3820A>T NP_001394777.1:p.Lys1274Ter nonsense NM_001407849.1:c.3820A>T NP_001394778.1:p.Lys1274Ter nonsense NM_001407850.1:c.3823A>T NP_001394779.1:p.Lys1275Ter nonsense NM_001407851.1:c.3823A>T NP_001394780.1:p.Lys1275Ter nonsense NM_001407852.1:c.3823A>T NP_001394781.1:p.Lys1275Ter nonsense NM_001407853.1:c.3751A>T NP_001394782.1:p.Lys1251Ter nonsense NM_001407854.1:c.3964A>T NP_001394783.1:p.Lys1322Ter nonsense NM_001407858.1:c.3964A>T NP_001394787.1:p.Lys1322Ter nonsense NM_001407859.1:c.3964A>T NP_001394788.1:p.Lys1322Ter nonsense NM_001407860.1:c.3961A>T NP_001394789.1:p.Lys1321Ter nonsense NM_001407861.1:c.3961A>T NP_001394790.1:p.Lys1321Ter nonsense NM_001407862.1:c.3763A>T NP_001394791.1:p.Lys1255Ter nonsense NM_001407863.1:c.3841A>T NP_001394792.1:p.Lys1281Ter nonsense NM_001407874.1:c.3760A>T NP_001394803.1:p.Lys1254Ter nonsense NM_001407875.1:c.3760A>T NP_001394804.1:p.Lys1254Ter nonsense NM_001407879.1:c.3754A>T NP_001394808.1:p.Lys1252Ter nonsense NM_001407881.1:c.3754A>T NP_001394810.1:p.Lys1252Ter nonsense NM_001407882.1:c.3754A>T NP_001394811.1:p.Lys1252Ter nonsense NM_001407884.1:c.3754A>T NP_001394813.1:p.Lys1252Ter nonsense NM_001407885.1:c.3754A>T NP_001394814.1:p.Lys1252Ter nonsense NM_001407886.1:c.3754A>T NP_001394815.1:p.Lys1252Ter nonsense NM_001407887.1:c.3754A>T NP_001394816.1:p.Lys1252Ter nonsense NM_001407889.1:c.3754A>T NP_001394818.1:p.Lys1252Ter nonsense NM_001407894.1:c.3751A>T NP_001394823.1:p.Lys1251Ter nonsense NM_001407895.1:c.3751A>T NP_001394824.1:p.Lys1251Ter nonsense NM_001407896.1:c.3751A>T NP_001394825.1:p.Lys1251Ter nonsense NM_001407897.1:c.3751A>T NP_001394826.1:p.Lys1251Ter nonsense NM_001407898.1:c.3751A>T NP_001394827.1:p.Lys1251Ter nonsense NM_001407899.1:c.3751A>T NP_001394828.1:p.Lys1251Ter nonsense NM_001407900.1:c.3754A>T NP_001394829.1:p.Lys1252Ter nonsense NM_001407902.1:c.3754A>T NP_001394831.1:p.Lys1252Ter nonsense NM_001407904.1:c.3754A>T NP_001394833.1:p.Lys1252Ter nonsense NM_001407906.1:c.3754A>T NP_001394835.1:p.Lys1252Ter nonsense NM_001407907.1:c.3754A>T NP_001394836.1:p.Lys1252Ter nonsense NM_001407908.1:c.3754A>T NP_001394837.1:p.Lys1252Ter nonsense NM_001407909.1:c.3754A>T NP_001394838.1:p.Lys1252Ter nonsense NM_001407910.1:c.3754A>T NP_001394839.1:p.Lys1252Ter nonsense NM_001407915.1:c.3751A>T NP_001394844.1:p.Lys1251Ter nonsense NM_001407916.1:c.3751A>T NP_001394845.1:p.Lys1251Ter nonsense NM_001407917.1:c.3751A>T NP_001394846.1:p.Lys1251Ter nonsense NM_001407918.1:c.3751A>T NP_001394847.1:p.Lys1251Ter nonsense NM_001407919.1:c.3841A>T NP_001394848.1:p.Lys1281Ter nonsense NM_001407920.1:c.3700A>T NP_001394849.1:p.Lys1234Ter nonsense NM_001407921.1:c.3700A>T NP_001394850.1:p.Lys1234Ter nonsense NM_001407922.1:c.3700A>T NP_001394851.1:p.Lys1234Ter nonsense NM_001407923.1:c.3700A>T NP_001394852.1:p.Lys1234Ter nonsense NM_001407924.1:c.3700A>T NP_001394853.1:p.Lys1234Ter nonsense NM_001407925.1:c.3700A>T NP_001394854.1:p.Lys1234Ter nonsense NM_001407926.1:c.3700A>T NP_001394855.1:p.Lys1234Ter nonsense NM_001407927.1:c.3700A>T NP_001394856.1:p.Lys1234Ter nonsense NM_001407928.1:c.3700A>T NP_001394857.1:p.Lys1234Ter nonsense NM_001407929.1:c.3700A>T NP_001394858.1:p.Lys1234Ter nonsense NM_001407930.1:c.3697A>T NP_001394859.1:p.Lys1233Ter nonsense NM_001407931.1:c.3697A>T NP_001394860.1:p.Lys1233Ter nonsense NM_001407932.1:c.3697A>T NP_001394861.1:p.Lys1233Ter nonsense NM_001407933.1:c.3700A>T NP_001394862.1:p.Lys1234Ter nonsense NM_001407934.1:c.3697A>T NP_001394863.1:p.Lys1233Ter nonsense NM_001407935.1:c.3700A>T NP_001394864.1:p.Lys1234Ter nonsense NM_001407936.1:c.3697A>T NP_001394865.1:p.Lys1233Ter nonsense NM_001407937.1:c.3841A>T NP_001394866.1:p.Lys1281Ter nonsense NM_001407938.1:c.3841A>T NP_001394867.1:p.Lys1281Ter nonsense NM_001407939.1:c.3841A>T NP_001394868.1:p.Lys1281Ter nonsense NM_001407940.1:c.3838A>T NP_001394869.1:p.Lys1280Ter nonsense NM_001407941.1:c.3838A>T NP_001394870.1:p.Lys1280Ter nonsense NM_001407942.1:c.3823A>T NP_001394871.1:p.Lys1275Ter nonsense NM_001407943.1:c.3820A>T NP_001394872.1:p.Lys1274Ter nonsense NM_001407944.1:c.3823A>T NP_001394873.1:p.Lys1275Ter nonsense NM_001407945.1:c.3823A>T NP_001394874.1:p.Lys1275Ter nonsense NM_001407946.1:c.3631A>T NP_001394875.1:p.Lys1211Ter nonsense NM_001407947.1:c.3631A>T NP_001394876.1:p.Lys1211Ter nonsense NM_001407948.1:c.3631A>T NP_001394877.1:p.Lys1211Ter nonsense NM_001407949.1:c.3631A>T NP_001394878.1:p.Lys1211Ter nonsense NM_001407950.1:c.3631A>T NP_001394879.1:p.Lys1211Ter nonsense NM_001407951.1:c.3631A>T NP_001394880.1:p.Lys1211Ter nonsense NM_001407952.1:c.3631A>T NP_001394881.1:p.Lys1211Ter nonsense NM_001407953.1:c.3631A>T NP_001394882.1:p.Lys1211Ter nonsense NM_001407954.1:c.3628A>T NP_001394883.1:p.Lys1210Ter nonsense NM_001407955.1:c.3628A>T NP_001394884.1:p.Lys1210Ter nonsense NM_001407956.1:c.3628A>T NP_001394885.1:p.Lys1210Ter nonsense NM_001407957.1:c.3631A>T NP_001394886.1:p.Lys1211Ter nonsense NM_001407958.1:c.3628A>T NP_001394887.1:p.Lys1210Ter nonsense NM_001407959.1:c.3583A>T NP_001394888.1:p.Lys1195Ter nonsense NM_001407960.1:c.3583A>T NP_001394889.1:p.Lys1195Ter nonsense NM_001407962.1:c.3580A>T NP_001394891.1:p.Lys1194Ter nonsense NM_001407963.1:c.3583A>T NP_001394892.1:p.Lys1195Ter nonsense NM_001407964.1:c.3820A>T NP_001394893.1:p.Lys1274Ter nonsense NM_001407965.1:c.3460A>T NP_001394894.1:p.Lys1154Ter nonsense NM_001407966.1:c.3076A>T NP_001394895.1:p.Lys1026Ter nonsense NM_001407967.1:c.3076A>T NP_001394896.1:p.Lys1026Ter nonsense NM_001407968.1:c.1360A>T NP_001394897.1:p.Lys454Ter nonsense NM_001407969.1:c.1360A>T NP_001394898.1:p.Lys454Ter nonsense NM_001407970.1:c.788-535A>T intron variant NM_001407971.1:c.788-535A>T intron variant NM_001407972.1:c.785-535A>T intron variant NM_001407973.1:c.788-535A>T intron variant NM_001407974.1:c.788-535A>T intron variant NM_001407975.1:c.788-535A>T intron variant NM_001407976.1:c.788-535A>T intron variant NM_001407977.1:c.788-535A>T intron variant NM_001407978.1:c.788-535A>T intron variant NM_001407979.1:c.788-535A>T intron variant NM_001407980.1:c.788-535A>T intron variant NM_001407981.1:c.788-535A>T intron variant NM_001407982.1:c.788-535A>T intron variant NM_001407983.1:c.788-535A>T intron variant NM_001407984.1:c.785-535A>T intron variant NM_001407985.1:c.785-535A>T intron variant NM_001407986.1:c.785-535A>T intron variant NM_001407990.1:c.788-535A>T intron variant NM_001407991.1:c.785-535A>T intron variant NM_001407992.1:c.785-535A>T intron variant NM_001407993.1:c.788-535A>T intron variant NM_001408392.1:c.785-535A>T intron variant NM_001408396.1:c.785-535A>T intron variant NM_001408397.1:c.785-535A>T intron variant NM_001408398.1:c.785-535A>T intron variant NM_001408399.1:c.785-535A>T intron variant NM_001408400.1:c.785-535A>T intron variant NM_001408401.1:c.785-535A>T intron variant NM_001408402.1:c.785-535A>T intron variant NM_001408403.1:c.788-535A>T intron variant NM_001408404.1:c.788-535A>T intron variant NM_001408406.1:c.791-544A>T intron variant NM_001408407.1:c.785-535A>T intron variant NM_001408408.1:c.779-535A>T intron variant NM_001408409.1:c.710-535A>T intron variant NM_001408410.1:c.647-535A>T intron variant NM_001408411.1:c.710-535A>T intron variant NM_001408412.1:c.710-535A>T intron variant NM_001408413.1:c.707-535A>T intron variant NM_001408414.1:c.710-535A>T intron variant NM_001408415.1:c.710-535A>T intron variant NM_001408416.1:c.707-535A>T intron variant NM_001408418.1:c.671-535A>T intron variant NM_001408419.1:c.671-535A>T intron variant NM_001408420.1:c.671-535A>T intron variant NM_001408421.1:c.668-535A>T intron variant NM_001408422.1:c.671-535A>T intron variant NM_001408423.1:c.671-535A>T intron variant NM_001408424.1:c.668-535A>T intron variant NM_001408425.1:c.665-535A>T intron variant NM_001408426.1:c.665-535A>T intron variant NM_001408427.1:c.665-535A>T intron variant NM_001408428.1:c.665-535A>T intron variant NM_001408429.1:c.665-535A>T intron variant NM_001408430.1:c.665-535A>T intron variant NM_001408431.1:c.668-535A>T intron variant NM_001408432.1:c.662-535A>T intron variant NM_001408433.1:c.662-535A>T intron variant NM_001408434.1:c.662-535A>T intron variant NM_001408435.1:c.662-535A>T intron variant NM_001408436.1:c.665-535A>T intron variant NM_001408437.1:c.665-535A>T intron variant NM_001408438.1:c.665-535A>T intron variant NM_001408439.1:c.665-535A>T intron variant NM_001408440.1:c.665-535A>T intron variant NM_001408441.1:c.665-535A>T intron variant NM_001408442.1:c.665-535A>T intron variant NM_001408443.1:c.665-535A>T intron variant NM_001408444.1:c.665-535A>T intron variant NM_001408445.1:c.662-535A>T intron variant NM_001408446.1:c.662-535A>T intron variant NM_001408447.1:c.662-535A>T intron variant NM_001408448.1:c.662-535A>T intron variant NM_001408450.1:c.662-535A>T intron variant NM_001408451.1:c.653-535A>T intron variant NM_001408452.1:c.647-535A>T intron variant NM_001408453.1:c.647-535A>T intron variant NM_001408454.1:c.647-535A>T intron variant NM_001408455.1:c.647-535A>T intron variant NM_001408456.1:c.647-535A>T intron variant NM_001408457.1:c.647-535A>T intron variant NM_001408458.1:c.647-535A>T intron variant NM_001408459.1:c.647-535A>T intron variant NM_001408460.1:c.647-535A>T intron variant NM_001408461.1:c.647-535A>T intron variant NM_001408462.1:c.644-535A>T intron variant NM_001408463.1:c.644-535A>T intron variant NM_001408464.1:c.644-535A>T intron variant NM_001408465.1:c.644-535A>T intron variant NM_001408466.1:c.647-535A>T intron variant NM_001408467.1:c.647-535A>T intron variant NM_001408468.1:c.644-535A>T intron variant NM_001408469.1:c.647-535A>T intron variant NM_001408470.1:c.644-535A>T intron variant NM_001408472.1:c.788-535A>T intron variant NM_001408473.1:c.785-535A>T intron variant NM_001408474.1:c.587-535A>T intron variant NM_001408475.1:c.584-535A>T intron variant NM_001408476.1:c.587-535A>T intron variant NM_001408478.1:c.578-535A>T intron variant NM_001408479.1:c.578-535A>T intron variant NM_001408480.1:c.578-535A>T intron variant NM_001408481.1:c.578-535A>T intron variant NM_001408482.1:c.578-535A>T intron variant NM_001408483.1:c.578-535A>T intron variant NM_001408484.1:c.578-535A>T intron variant NM_001408485.1:c.578-535A>T intron variant NM_001408489.1:c.578-535A>T intron variant NM_001408490.1:c.575-535A>T intron variant NM_001408491.1:c.575-535A>T intron variant NM_001408492.1:c.578-535A>T intron variant NM_001408493.1:c.575-535A>T intron variant NM_001408494.1:c.548-535A>T intron variant NM_001408495.1:c.545-535A>T intron variant NM_001408496.1:c.524-535A>T intron variant NM_001408497.1:c.524-535A>T intron variant NM_001408498.1:c.524-535A>T intron variant NM_001408499.1:c.524-535A>T intron variant NM_001408500.1:c.524-535A>T intron variant NM_001408501.1:c.524-535A>T intron variant NM_001408502.1:c.455-535A>T intron variant NM_001408503.1:c.521-535A>T intron variant NM_001408504.1:c.521-535A>T intron variant NM_001408505.1:c.521-535A>T intron variant NM_001408506.1:c.461-535A>T intron variant NM_001408507.1:c.461-535A>T intron variant NM_001408508.1:c.452-535A>T intron variant NM_001408509.1:c.452-535A>T intron variant NM_001408510.1:c.407-535A>T intron variant NM_001408511.1:c.404-535A>T intron variant NM_001408512.1:c.284-535A>T intron variant NM_001408513.1:c.578-535A>T intron variant NM_001408514.1:c.578-535A>T intron variant NM_007297.4:c.3823A>T NP_009228.2:p.Lys1275Ter nonsense NM_007298.4:c.788-535A>T intron variant NM_007299.4:c.788-535A>T intron variant NM_007300.4:c.3964A>T NP_009231.2:p.Lys1322Ter nonsense NR_027676.1:n.4100A>T NC_000017.11:g.43091567T>A NC_000017.10:g.41243584T>A NG_005905.2:g.126417A>T NG_087068.1:g.549T>A LRG_292:g.126417A>T LRG_292t1:c.3964A>T LRG_292p1:p.Lys1322Ter U14680.1:n.4083A>T - Protein change
- K1322*, K1275*, K1194*, K1233*, K1251*, K1255*, K1274*, K1295*, K1195*, K1254*, K1210*, K1252*, K1281*, K1321*, K454*, K1026*, K1154*, K1211*, K1234*, K1280*, K1296*, K1319*
- Other names
- -
- Canonical SPDI
- NC_000017.11:43091566:T: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.
- -
- 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 |
13040 | 14846 | |
| LOC126862571 | - | - | - | GRCh38 | - | 1651 |
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 (2) |
reviewed by expert panel
|
Sep 8, 2016 | RCV000112218.4 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Oct 21, 2016 | RCV000563165.4 | |
| Pathogenic/Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
May 16, 2018 | RCV000590774.9 |
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
(Sep 08, 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: SCV000300047.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
Pathogenic
(Oct 21, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000660947.5
First in ClinVar: Jan 01, 2018 Last updated: May 01, 2024 |
Comment:
The p.K1322* pathogenic mutation (also known as c.3964A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at … (more)
The p.K1322* pathogenic mutation (also known as c.3964A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at nucleotide position 3964. This changes the amino acid from a lysine to a stop codon within coding exon 9. 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)
|
|
|
Likely pathogenic
(Feb 13, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000699089.1
First in ClinVar: Mar 17, 2018 Last updated: Mar 17, 2018 |
Comment:
Variant summary: The BRCA1 c.3964A>T (p.Lys1322X) 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.3964A>T (p.Lys1322X) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.3972_3974delinsAA, c.4035delA, c.4041_4042delAG, c.4065_4068delTCAA, c.4096+3A>G). Mutation Taster predicts a damaging outcome for this variant. This variant is absent in 121396 control chromosomes. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic. (less)
|
|
|
Pathogenic
(May 16, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001592839.4
First in ClinVar: May 10, 2021 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Lys1322*) 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.Lys1322*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333) and Breast Cancer Information Core database (PMID: 10923033). ClinVar contains an entry for this variant (Variation ID: 55059). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic. (less)
|
|
|
Pathogenic
(May 29, 2002)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
|
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144926.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 1
Ethnicity/Population group: Western European
|
Comment:
Comment:
The p.K1322* pathogenic mutation (also known as c.3964A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at nucleotide position 3964. This changes the amino acid from a lysine to a stop codon within coding exon 9. 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:
Variant summary: The BRCA1 c.3964A>T (p.Lys1322X) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.3972_3974delinsAA, c.4035delA, c.4041_4042delAG, c.4065_4068delTCAA, c.4096+3A>G). Mutation Taster predicts a damaging outcome for this variant. This variant is absent in 121396 control chromosomes. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic.
Comment:
This sequence change creates a premature translational stop signal (p.Lys1322*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333) and Breast Cancer Information Core database (PMID: 10923033). ClinVar contains an entry for this variant (Variation ID: 55059). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been 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:
The p.K1322* pathogenic mutation (also known as c.3964A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at nucleotide position 3964. This changes the amino acid from a lysine to a stop codon within coding exon 9. 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:
Variant summary: The BRCA1 c.3964A>T (p.Lys1322X) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.3972_3974delinsAA, c.4035delA, c.4041_4042delAG, c.4065_4068delTCAA, c.4096+3A>G). Mutation Taster predicts a damaging outcome for this variant. This variant is absent in 121396 control chromosomes. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic.
Comment:
This sequence change creates a premature translational stop signal (p.Lys1322*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333) and Breast Cancer Information Core database (PMID: 10923033). ClinVar contains an entry for this variant (Variation ID: 55059). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| LOVD v.2.0: the next generation in gene variant databases. | Fokkema IF | Human mutation | 2011 | PMID: 21520333 |
| 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 |
| The breast cancer information core: database design, structure, and scope. | Szabo C | Human mutation | 2000 | PMID: 10923033 |
Text-mined citations for rs80357343 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Oct 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.