ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.2197G>T (p.Glu733Ter)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.2197G>T (p.Glu733Ter)
Variation ID: 54494 Accession: VCV000054494.19
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43093334 (GRCh38) [ NCBI UCSC ] 17: 41245351 (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 Sep 27, 2014 May 1, 2024 Sep 8, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.2197G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu733Ter nonsense NM_001407571.1:c.1984G>T NP_001394500.1:p.Glu662Ter nonsense NM_001407581.1:c.2197G>T NP_001394510.1:p.Glu733Ter nonsense NM_001407582.1:c.2197G>T NP_001394511.1:p.Glu733Ter nonsense NM_001407583.1:c.2197G>T NP_001394512.1:p.Glu733Ter nonsense NM_001407585.1:c.2197G>T NP_001394514.1:p.Glu733Ter nonsense NM_001407587.1:c.2194G>T NP_001394516.1:p.Glu732Ter nonsense NM_001407590.1:c.2194G>T NP_001394519.1:p.Glu732Ter nonsense NM_001407591.1:c.2194G>T NP_001394520.1:p.Glu732Ter nonsense NM_001407593.1:c.2197G>T NP_001394522.1:p.Glu733Ter nonsense NM_001407594.1:c.2197G>T NP_001394523.1:p.Glu733Ter nonsense NM_001407596.1:c.2197G>T NP_001394525.1:p.Glu733Ter nonsense NM_001407597.1:c.2197G>T NP_001394526.1:p.Glu733Ter nonsense NM_001407598.1:c.2197G>T NP_001394527.1:p.Glu733Ter nonsense NM_001407602.1:c.2197G>T NP_001394531.1:p.Glu733Ter nonsense NM_001407603.1:c.2197G>T NP_001394532.1:p.Glu733Ter nonsense NM_001407605.1:c.2197G>T NP_001394534.1:p.Glu733Ter nonsense NM_001407610.1:c.2194G>T NP_001394539.1:p.Glu732Ter nonsense NM_001407611.1:c.2194G>T NP_001394540.1:p.Glu732Ter nonsense NM_001407612.1:c.2194G>T NP_001394541.1:p.Glu732Ter nonsense NM_001407613.1:c.2194G>T NP_001394542.1:p.Glu732Ter nonsense NM_001407614.1:c.2194G>T NP_001394543.1:p.Glu732Ter nonsense NM_001407615.1:c.2194G>T NP_001394544.1:p.Glu732Ter nonsense NM_001407616.1:c.2197G>T NP_001394545.1:p.Glu733Ter nonsense NM_001407617.1:c.2197G>T NP_001394546.1:p.Glu733Ter nonsense NM_001407618.1:c.2197G>T NP_001394547.1:p.Glu733Ter nonsense NM_001407619.1:c.2197G>T NP_001394548.1:p.Glu733Ter nonsense NM_001407620.1:c.2197G>T NP_001394549.1:p.Glu733Ter nonsense NM_001407621.1:c.2197G>T NP_001394550.1:p.Glu733Ter nonsense NM_001407622.1:c.2197G>T NP_001394551.1:p.Glu733Ter nonsense NM_001407623.1:c.2197G>T NP_001394552.1:p.Glu733Ter nonsense NM_001407624.1:c.2197G>T NP_001394553.1:p.Glu733Ter nonsense NM_001407625.1:c.2197G>T NP_001394554.1:p.Glu733Ter nonsense NM_001407626.1:c.2197G>T NP_001394555.1:p.Glu733Ter nonsense NM_001407627.1:c.2194G>T NP_001394556.1:p.Glu732Ter nonsense NM_001407628.1:c.2194G>T NP_001394557.1:p.Glu732Ter nonsense NM_001407629.1:c.2194G>T NP_001394558.1:p.Glu732Ter nonsense NM_001407630.1:c.2194G>T NP_001394559.1:p.Glu732Ter nonsense NM_001407631.1:c.2194G>T NP_001394560.1:p.Glu732Ter nonsense NM_001407632.1:c.2194G>T NP_001394561.1:p.Glu732Ter nonsense NM_001407633.1:c.2194G>T NP_001394562.1:p.Glu732Ter nonsense NM_001407634.1:c.2194G>T NP_001394563.1:p.Glu732Ter nonsense NM_001407635.1:c.2194G>T NP_001394564.1:p.Glu732Ter nonsense NM_001407636.1:c.2194G>T NP_001394565.1:p.Glu732Ter nonsense NM_001407637.1:c.2194G>T NP_001394566.1:p.Glu732Ter nonsense NM_001407638.1:c.2194G>T NP_001394567.1:p.Glu732Ter nonsense NM_001407639.1:c.2197G>T NP_001394568.1:p.Glu733Ter nonsense NM_001407640.1:c.2197G>T NP_001394569.1:p.Glu733Ter nonsense NM_001407641.1:c.2197G>T NP_001394570.1:p.Glu733Ter nonsense NM_001407642.1:c.2197G>T NP_001394571.1:p.Glu733Ter nonsense NM_001407644.1:c.2194G>T NP_001394573.1:p.Glu732Ter nonsense NM_001407645.1:c.2194G>T NP_001394574.1:p.Glu732Ter nonsense NM_001407646.1:c.2188G>T NP_001394575.1:p.Glu730Ter nonsense NM_001407647.1:c.2188G>T NP_001394576.1:p.Glu730Ter nonsense NM_001407648.1:c.2074G>T NP_001394577.1:p.Glu692Ter nonsense NM_001407649.1:c.2071G>T NP_001394578.1:p.Glu691Ter nonsense NM_001407652.1:c.2197G>T NP_001394581.1:p.Glu733Ter nonsense NM_001407653.1:c.2119G>T NP_001394582.1:p.Glu707Ter nonsense NM_001407654.1:c.2119G>T NP_001394583.1:p.Glu707Ter nonsense NM_001407655.1:c.2119G>T NP_001394584.1:p.Glu707Ter nonsense NM_001407656.1:c.2119G>T NP_001394585.1:p.Glu707Ter nonsense NM_001407657.1:c.2119G>T NP_001394586.1:p.Glu707Ter nonsense NM_001407658.1:c.2119G>T NP_001394587.1:p.Glu707Ter nonsense NM_001407659.1:c.2116G>T NP_001394588.1:p.Glu706Ter nonsense NM_001407660.1:c.2116G>T NP_001394589.1:p.Glu706Ter nonsense NM_001407661.1:c.2116G>T NP_001394590.1:p.Glu706Ter nonsense NM_001407662.1:c.2116G>T NP_001394591.1:p.Glu706Ter nonsense NM_001407663.1:c.2119G>T NP_001394592.1:p.Glu707Ter nonsense NM_001407664.1:c.2074G>T NP_001394593.1:p.Glu692Ter nonsense NM_001407665.1:c.2074G>T NP_001394594.1:p.Glu692Ter nonsense NM_001407666.1:c.2074G>T NP_001394595.1:p.Glu692Ter nonsense NM_001407667.1:c.2074G>T NP_001394596.1:p.Glu692Ter nonsense NM_001407668.1:c.2074G>T NP_001394597.1:p.Glu692Ter nonsense NM_001407669.1:c.2074G>T NP_001394598.1:p.Glu692Ter nonsense NM_001407670.1:c.2071G>T NP_001394599.1:p.Glu691Ter nonsense NM_001407671.1:c.2071G>T NP_001394600.1:p.Glu691Ter nonsense NM_001407672.1:c.2071G>T NP_001394601.1:p.Glu691Ter nonsense NM_001407673.1:c.2071G>T NP_001394602.1:p.Glu691Ter nonsense NM_001407674.1:c.2074G>T NP_001394603.1:p.Glu692Ter nonsense NM_001407675.1:c.2074G>T NP_001394604.1:p.Glu692Ter nonsense NM_001407676.1:c.2074G>T NP_001394605.1:p.Glu692Ter nonsense NM_001407677.1:c.2074G>T NP_001394606.1:p.Glu692Ter nonsense NM_001407678.1:c.2074G>T NP_001394607.1:p.Glu692Ter nonsense NM_001407679.1:c.2074G>T NP_001394608.1:p.Glu692Ter nonsense NM_001407680.1:c.2074G>T NP_001394609.1:p.Glu692Ter nonsense NM_001407681.1:c.2074G>T NP_001394610.1:p.Glu692Ter nonsense NM_001407682.1:c.2074G>T NP_001394611.1:p.Glu692Ter nonsense NM_001407683.1:c.2074G>T NP_001394612.1:p.Glu692Ter nonsense NM_001407684.1:c.2197G>T NP_001394613.1:p.Glu733Ter nonsense NM_001407685.1:c.2071G>T NP_001394614.1:p.Glu691Ter nonsense NM_001407686.1:c.2071G>T NP_001394615.1:p.Glu691Ter nonsense NM_001407687.1:c.2071G>T NP_001394616.1:p.Glu691Ter nonsense NM_001407688.1:c.2071G>T NP_001394617.1:p.Glu691Ter nonsense NM_001407689.1:c.2071G>T NP_001394618.1:p.Glu691Ter nonsense NM_001407690.1:c.2071G>T NP_001394619.1:p.Glu691Ter nonsense NM_001407691.1:c.2071G>T NP_001394620.1:p.Glu691Ter nonsense NM_001407692.1:c.2056G>T NP_001394621.1:p.Glu686Ter nonsense NM_001407694.1:c.2056G>T NP_001394623.1:p.Glu686Ter nonsense NM_001407695.1:c.2056G>T NP_001394624.1:p.Glu686Ter nonsense NM_001407696.1:c.2056G>T NP_001394625.1:p.Glu686Ter nonsense NM_001407697.1:c.2056G>T NP_001394626.1:p.Glu686Ter nonsense NM_001407698.1:c.2056G>T NP_001394627.1:p.Glu686Ter nonsense NM_001407724.1:c.2056G>T NP_001394653.1:p.Glu686Ter nonsense NM_001407725.1:c.2056G>T NP_001394654.1:p.Glu686Ter nonsense NM_001407726.1:c.2056G>T NP_001394655.1:p.Glu686Ter nonsense NM_001407727.1:c.2056G>T NP_001394656.1:p.Glu686Ter nonsense NM_001407728.1:c.2056G>T NP_001394657.1:p.Glu686Ter nonsense NM_001407729.1:c.2056G>T NP_001394658.1:p.Glu686Ter nonsense NM_001407730.1:c.2056G>T NP_001394659.1:p.Glu686Ter nonsense NM_001407731.1:c.2056G>T NP_001394660.1:p.Glu686Ter nonsense NM_001407732.1:c.2056G>T NP_001394661.1:p.Glu686Ter nonsense NM_001407733.1:c.2056G>T NP_001394662.1:p.Glu686Ter nonsense NM_001407734.1:c.2056G>T NP_001394663.1:p.Glu686Ter nonsense NM_001407735.1:c.2056G>T NP_001394664.1:p.Glu686Ter nonsense NM_001407736.1:c.2056G>T NP_001394665.1:p.Glu686Ter nonsense NM_001407737.1:c.2056G>T NP_001394666.1:p.Glu686Ter nonsense NM_001407738.1:c.2056G>T NP_001394667.1:p.Glu686Ter nonsense NM_001407739.1:c.2056G>T NP_001394668.1:p.Glu686Ter nonsense NM_001407740.1:c.2053G>T NP_001394669.1:p.Glu685Ter nonsense NM_001407741.1:c.2053G>T NP_001394670.1:p.Glu685Ter nonsense NM_001407742.1:c.2053G>T NP_001394671.1:p.Glu685Ter nonsense NM_001407743.1:c.2053G>T NP_001394672.1:p.Glu685Ter nonsense NM_001407744.1:c.2053G>T NP_001394673.1:p.Glu685Ter nonsense NM_001407745.1:c.2053G>T NP_001394674.1:p.Glu685Ter nonsense NM_001407746.1:c.2053G>T NP_001394675.1:p.Glu685Ter nonsense NM_001407747.1:c.2053G>T NP_001394676.1:p.Glu685Ter nonsense NM_001407748.1:c.2053G>T NP_001394677.1:p.Glu685Ter nonsense NM_001407749.1:c.2053G>T NP_001394678.1:p.Glu685Ter nonsense NM_001407750.1:c.2056G>T NP_001394679.1:p.Glu686Ter nonsense NM_001407751.1:c.2056G>T NP_001394680.1:p.Glu686Ter nonsense NM_001407752.1:c.2056G>T NP_001394681.1:p.Glu686Ter nonsense NM_001407838.1:c.2053G>T NP_001394767.1:p.Glu685Ter nonsense NM_001407839.1:c.2053G>T NP_001394768.1:p.Glu685Ter nonsense NM_001407841.1:c.2053G>T NP_001394770.1:p.Glu685Ter nonsense NM_001407842.1:c.2053G>T NP_001394771.1:p.Glu685Ter nonsense NM_001407843.1:c.2053G>T NP_001394772.1:p.Glu685Ter nonsense NM_001407844.1:c.2053G>T NP_001394773.1:p.Glu685Ter nonsense NM_001407845.1:c.2053G>T NP_001394774.1:p.Glu685Ter nonsense NM_001407846.1:c.2053G>T NP_001394775.1:p.Glu685Ter nonsense NM_001407847.1:c.2053G>T NP_001394776.1:p.Glu685Ter nonsense NM_001407848.1:c.2053G>T NP_001394777.1:p.Glu685Ter nonsense NM_001407849.1:c.2053G>T NP_001394778.1:p.Glu685Ter nonsense NM_001407850.1:c.2056G>T NP_001394779.1:p.Glu686Ter nonsense NM_001407851.1:c.2056G>T NP_001394780.1:p.Glu686Ter nonsense NM_001407852.1:c.2056G>T NP_001394781.1:p.Glu686Ter nonsense NM_001407853.1:c.1984G>T NP_001394782.1:p.Glu662Ter nonsense NM_001407854.1:c.2197G>T NP_001394783.1:p.Glu733Ter nonsense NM_001407858.1:c.2197G>T NP_001394787.1:p.Glu733Ter nonsense NM_001407859.1:c.2197G>T NP_001394788.1:p.Glu733Ter nonsense NM_001407860.1:c.2194G>T NP_001394789.1:p.Glu732Ter nonsense NM_001407861.1:c.2194G>T NP_001394790.1:p.Glu732Ter nonsense NM_001407862.1:c.1996G>T NP_001394791.1:p.Glu666Ter nonsense NM_001407863.1:c.2074G>T NP_001394792.1:p.Glu692Ter nonsense NM_001407874.1:c.1993G>T NP_001394803.1:p.Glu665Ter nonsense NM_001407875.1:c.1993G>T NP_001394804.1:p.Glu665Ter nonsense NM_001407879.1:c.1987G>T NP_001394808.1:p.Glu663Ter nonsense NM_001407881.1:c.1987G>T NP_001394810.1:p.Glu663Ter nonsense NM_001407882.1:c.1987G>T NP_001394811.1:p.Glu663Ter nonsense NM_001407884.1:c.1987G>T NP_001394813.1:p.Glu663Ter nonsense NM_001407885.1:c.1987G>T NP_001394814.1:p.Glu663Ter nonsense NM_001407886.1:c.1987G>T NP_001394815.1:p.Glu663Ter nonsense NM_001407887.1:c.1987G>T NP_001394816.1:p.Glu663Ter nonsense NM_001407889.1:c.1987G>T NP_001394818.1:p.Glu663Ter nonsense NM_001407894.1:c.1984G>T NP_001394823.1:p.Glu662Ter nonsense NM_001407895.1:c.1984G>T NP_001394824.1:p.Glu662Ter nonsense NM_001407896.1:c.1984G>T NP_001394825.1:p.Glu662Ter nonsense NM_001407897.1:c.1984G>T NP_001394826.1:p.Glu662Ter nonsense NM_001407898.1:c.1984G>T NP_001394827.1:p.Glu662Ter nonsense NM_001407899.1:c.1984G>T NP_001394828.1:p.Glu662Ter nonsense NM_001407900.1:c.1987G>T NP_001394829.1:p.Glu663Ter nonsense NM_001407902.1:c.1987G>T NP_001394831.1:p.Glu663Ter nonsense NM_001407904.1:c.1987G>T NP_001394833.1:p.Glu663Ter nonsense NM_001407906.1:c.1987G>T NP_001394835.1:p.Glu663Ter nonsense NM_001407907.1:c.1987G>T NP_001394836.1:p.Glu663Ter nonsense NM_001407908.1:c.1987G>T NP_001394837.1:p.Glu663Ter nonsense NM_001407909.1:c.1987G>T NP_001394838.1:p.Glu663Ter nonsense NM_001407910.1:c.1987G>T NP_001394839.1:p.Glu663Ter nonsense NM_001407915.1:c.1984G>T NP_001394844.1:p.Glu662Ter nonsense NM_001407916.1:c.1984G>T NP_001394845.1:p.Glu662Ter nonsense NM_001407917.1:c.1984G>T NP_001394846.1:p.Glu662Ter nonsense NM_001407918.1:c.1984G>T NP_001394847.1:p.Glu662Ter nonsense NM_001407919.1:c.2074G>T NP_001394848.1:p.Glu692Ter nonsense NM_001407920.1:c.1933G>T NP_001394849.1:p.Glu645Ter nonsense NM_001407921.1:c.1933G>T NP_001394850.1:p.Glu645Ter nonsense NM_001407922.1:c.1933G>T NP_001394851.1:p.Glu645Ter nonsense NM_001407923.1:c.1933G>T NP_001394852.1:p.Glu645Ter nonsense NM_001407924.1:c.1933G>T NP_001394853.1:p.Glu645Ter nonsense NM_001407925.1:c.1933G>T NP_001394854.1:p.Glu645Ter nonsense NM_001407926.1:c.1933G>T NP_001394855.1:p.Glu645Ter nonsense NM_001407927.1:c.1933G>T NP_001394856.1:p.Glu645Ter nonsense NM_001407928.1:c.1933G>T NP_001394857.1:p.Glu645Ter nonsense NM_001407929.1:c.1933G>T NP_001394858.1:p.Glu645Ter nonsense NM_001407930.1:c.1930G>T NP_001394859.1:p.Glu644Ter nonsense NM_001407931.1:c.1930G>T NP_001394860.1:p.Glu644Ter nonsense NM_001407932.1:c.1930G>T NP_001394861.1:p.Glu644Ter nonsense NM_001407933.1:c.1933G>T NP_001394862.1:p.Glu645Ter nonsense NM_001407934.1:c.1930G>T NP_001394863.1:p.Glu644Ter nonsense NM_001407935.1:c.1933G>T NP_001394864.1:p.Glu645Ter nonsense NM_001407936.1:c.1930G>T NP_001394865.1:p.Glu644Ter nonsense NM_001407937.1:c.2074G>T NP_001394866.1:p.Glu692Ter nonsense NM_001407938.1:c.2074G>T NP_001394867.1:p.Glu692Ter nonsense NM_001407939.1:c.2074G>T NP_001394868.1:p.Glu692Ter nonsense NM_001407940.1:c.2071G>T NP_001394869.1:p.Glu691Ter nonsense NM_001407941.1:c.2071G>T NP_001394870.1:p.Glu691Ter nonsense NM_001407942.1:c.2056G>T NP_001394871.1:p.Glu686Ter nonsense NM_001407943.1:c.2053G>T NP_001394872.1:p.Glu685Ter nonsense NM_001407944.1:c.2056G>T NP_001394873.1:p.Glu686Ter nonsense NM_001407945.1:c.2056G>T NP_001394874.1:p.Glu686Ter nonsense NM_001407946.1:c.1864G>T NP_001394875.1:p.Glu622Ter nonsense NM_001407947.1:c.1864G>T NP_001394876.1:p.Glu622Ter nonsense NM_001407948.1:c.1864G>T NP_001394877.1:p.Glu622Ter nonsense NM_001407949.1:c.1864G>T NP_001394878.1:p.Glu622Ter nonsense NM_001407950.1:c.1864G>T NP_001394879.1:p.Glu622Ter nonsense NM_001407951.1:c.1864G>T NP_001394880.1:p.Glu622Ter nonsense NM_001407952.1:c.1864G>T NP_001394881.1:p.Glu622Ter nonsense NM_001407953.1:c.1864G>T NP_001394882.1:p.Glu622Ter nonsense NM_001407954.1:c.1861G>T NP_001394883.1:p.Glu621Ter nonsense NM_001407955.1:c.1861G>T NP_001394884.1:p.Glu621Ter nonsense NM_001407956.1:c.1861G>T NP_001394885.1:p.Glu621Ter nonsense NM_001407957.1:c.1864G>T NP_001394886.1:p.Glu622Ter nonsense NM_001407958.1:c.1861G>T NP_001394887.1:p.Glu621Ter nonsense NM_001407959.1:c.1816G>T NP_001394888.1:p.Glu606Ter nonsense NM_001407960.1:c.1816G>T NP_001394889.1:p.Glu606Ter nonsense NM_001407962.1:c.1813G>T NP_001394891.1:p.Glu605Ter nonsense NM_001407963.1:c.1816G>T NP_001394892.1:p.Glu606Ter nonsense NM_001407964.1:c.2053G>T NP_001394893.1:p.Glu685Ter nonsense NM_001407965.1:c.1693G>T NP_001394894.1:p.Glu565Ter nonsense NM_001407966.1:c.1309G>T NP_001394895.1:p.Glu437Ter nonsense NM_001407967.1:c.1309G>T NP_001394896.1:p.Glu437Ter nonsense NM_001407968.1:c.788-1195G>T intron variant NM_001407969.1:c.788-1195G>T intron variant NM_001407970.1:c.787+1410G>T intron variant NM_001407971.1:c.787+1410G>T intron variant NM_001407972.1:c.784+1410G>T intron variant NM_001407973.1:c.787+1410G>T intron variant NM_001407974.1:c.787+1410G>T intron variant NM_001407975.1:c.787+1410G>T intron variant NM_001407976.1:c.787+1410G>T intron variant NM_001407977.1:c.787+1410G>T intron variant NM_001407978.1:c.787+1410G>T intron variant NM_001407979.1:c.787+1410G>T intron variant NM_001407980.1:c.787+1410G>T intron variant NM_001407981.1:c.787+1410G>T intron variant NM_001407982.1:c.787+1410G>T intron variant NM_001407983.1:c.787+1410G>T intron variant NM_001407984.1:c.784+1410G>T intron variant NM_001407985.1:c.784+1410G>T intron variant NM_001407986.1:c.784+1410G>T intron variant NM_001407990.1:c.787+1410G>T intron variant NM_001407991.1:c.784+1410G>T intron variant NM_001407992.1:c.784+1410G>T intron variant NM_001407993.1:c.787+1410G>T intron variant NM_001408392.1:c.784+1410G>T intron variant NM_001408396.1:c.784+1410G>T intron variant NM_001408397.1:c.784+1410G>T intron variant NM_001408398.1:c.784+1410G>T intron variant NM_001408399.1:c.784+1410G>T intron variant NM_001408400.1:c.784+1410G>T intron variant NM_001408401.1:c.784+1410G>T intron variant NM_001408402.1:c.784+1410G>T intron variant NM_001408403.1:c.787+1410G>T intron variant NM_001408404.1:c.787+1410G>T intron variant NM_001408406.1:c.790+1407G>T intron variant NM_001408407.1:c.784+1410G>T intron variant NM_001408408.1:c.778+1410G>T intron variant NM_001408409.1:c.709+1410G>T intron variant NM_001408410.1:c.646+1410G>T intron variant NM_001408411.1:c.709+1410G>T intron variant NM_001408412.1:c.709+1410G>T intron variant NM_001408413.1:c.706+1410G>T intron variant NM_001408414.1:c.709+1410G>T intron variant NM_001408415.1:c.709+1410G>T intron variant NM_001408416.1:c.706+1410G>T intron variant NM_001408418.1:c.671-2302G>T intron variant NM_001408419.1:c.671-2302G>T intron variant NM_001408420.1:c.671-2302G>T intron variant NM_001408421.1:c.668-2302G>T intron variant NM_001408422.1:c.671-2302G>T intron variant NM_001408423.1:c.671-2302G>T intron variant NM_001408424.1:c.668-2302G>T intron variant NM_001408425.1:c.664+1410G>T intron variant NM_001408426.1:c.664+1410G>T intron variant NM_001408427.1:c.664+1410G>T intron variant NM_001408428.1:c.664+1410G>T intron variant NM_001408429.1:c.664+1410G>T intron variant NM_001408430.1:c.664+1410G>T intron variant NM_001408431.1:c.668-2302G>T intron variant NM_001408432.1:c.661+1410G>T intron variant NM_001408433.1:c.661+1410G>T intron variant NM_001408434.1:c.661+1410G>T intron variant NM_001408435.1:c.661+1410G>T intron variant NM_001408436.1:c.664+1410G>T intron variant NM_001408437.1:c.664+1410G>T intron variant NM_001408438.1:c.664+1410G>T intron variant NM_001408439.1:c.664+1410G>T intron variant NM_001408440.1:c.664+1410G>T intron variant NM_001408441.1:c.664+1410G>T intron variant NM_001408442.1:c.664+1410G>T intron variant NM_001408443.1:c.664+1410G>T intron variant NM_001408444.1:c.664+1410G>T intron variant NM_001408445.1:c.661+1410G>T intron variant NM_001408446.1:c.661+1410G>T intron variant NM_001408447.1:c.661+1410G>T intron variant NM_001408448.1:c.661+1410G>T intron variant NM_001408450.1:c.661+1410G>T intron variant NM_001408451.1:c.652+1410G>T intron variant NM_001408452.1:c.646+1410G>T intron variant NM_001408453.1:c.646+1410G>T intron variant NM_001408454.1:c.646+1410G>T intron variant NM_001408455.1:c.646+1410G>T intron variant NM_001408456.1:c.646+1410G>T intron variant NM_001408457.1:c.646+1410G>T intron variant NM_001408458.1:c.646+1410G>T intron variant NM_001408459.1:c.646+1410G>T intron variant NM_001408460.1:c.646+1410G>T intron variant NM_001408461.1:c.646+1410G>T intron variant NM_001408462.1:c.643+1410G>T intron variant NM_001408463.1:c.643+1410G>T intron variant NM_001408464.1:c.643+1410G>T intron variant NM_001408465.1:c.643+1410G>T intron variant NM_001408466.1:c.646+1410G>T intron variant NM_001408467.1:c.646+1410G>T intron variant NM_001408468.1:c.643+1410G>T intron variant NM_001408469.1:c.646+1410G>T intron variant NM_001408470.1:c.643+1410G>T intron variant NM_001408472.1:c.787+1410G>T intron variant NM_001408473.1:c.784+1410G>T intron variant NM_001408474.1:c.586+1410G>T intron variant NM_001408475.1:c.583+1410G>T intron variant NM_001408476.1:c.586+1410G>T intron variant NM_001408478.1:c.577+1410G>T intron variant NM_001408479.1:c.577+1410G>T intron variant NM_001408480.1:c.577+1410G>T intron variant NM_001408481.1:c.577+1410G>T intron variant NM_001408482.1:c.577+1410G>T intron variant NM_001408483.1:c.577+1410G>T intron variant NM_001408484.1:c.577+1410G>T intron variant NM_001408485.1:c.577+1410G>T intron variant NM_001408489.1:c.577+1410G>T intron variant NM_001408490.1:c.574+1410G>T intron variant NM_001408491.1:c.574+1410G>T intron variant NM_001408492.1:c.577+1410G>T intron variant NM_001408493.1:c.574+1410G>T intron variant NM_001408494.1:c.548-2302G>T intron variant NM_001408495.1:c.545-2302G>T intron variant NM_001408496.1:c.523+1410G>T intron variant NM_001408497.1:c.523+1410G>T intron variant NM_001408498.1:c.523+1410G>T intron variant NM_001408499.1:c.523+1410G>T intron variant NM_001408500.1:c.523+1410G>T intron variant NM_001408501.1:c.523+1410G>T intron variant NM_001408502.1:c.454+1410G>T intron variant NM_001408503.1:c.520+1410G>T intron variant NM_001408504.1:c.520+1410G>T intron variant NM_001408505.1:c.520+1410G>T intron variant NM_001408506.1:c.461-2302G>T intron variant NM_001408507.1:c.461-2302G>T intron variant NM_001408508.1:c.451+1410G>T intron variant NM_001408509.1:c.451+1410G>T intron variant NM_001408510.1:c.406+1410G>T intron variant NM_001408511.1:c.404-2302G>T intron variant NM_001408512.1:c.283+1410G>T intron variant NM_001408513.1:c.577+1410G>T intron variant NM_001408514.1:c.577+1410G>T intron variant NM_007297.4:c.2056G>T NP_009228.2:p.Glu686Ter nonsense NM_007298.4:c.787+1410G>T intron variant NM_007299.4:c.787+1410G>T intron variant NM_007300.4:c.2197G>T NP_009231.2:p.Glu733Ter nonsense NR_027676.1:n.2333G>T NC_000017.11:g.43093334C>A NC_000017.10:g.41245351C>A NG_005905.2:g.124650G>T LRG_292:g.124650G>T LRG_292t1:c.2197G>T LRG_292p1:p.Glu733Ter - Protein change
- E733*, E686*, E437*, E606*, E663*, E730*, E732*, E644*, E685*, E706*, E707*, E565*, E621*, E622*, E645*, E665*, E691*, E605*, E662*, E666*, E692*
- Other names
- 2316G>T
- Canonical SPDI
- NC_000017.11:43093333:C:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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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.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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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 | ||
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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. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12887 | 14672 |
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. |
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Pathogenic (4) |
reviewed by expert panel
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Sep 8, 2016 | RCV000077511.15 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
Nov 25, 2022 | RCV000479672.15 | |
Pathogenic (1) |
criteria provided, single submitter
|
Mar 27, 2021 | RCV000509808.11 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Jul 26, 2023 | RCV001852989.12 |
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. |
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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: SCV000299714.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
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Pathogenic
(Nov 25, 2022)
|
criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000568421.6
First in ClinVar: Apr 27, 2017 Last updated: Dec 03, 2022 |
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 and family history consistent with pathogenic variants in this gene (Litton et al., 2012; Rebbeck et al., 2018); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Not observed in large population cohorts (gnomAD); Also known as 2316G>T; This variant is associated with the following publications: (PMID: 29446198, 21913181) (less)
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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
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325283.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Apr 25, 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: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004216973.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
|
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Pathogenic
(Aug 19, 2022)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV004222589.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
Comment:
This nonsense variant causes the premature termination of BRCA1 protein synthesis. It has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published … (more)
This nonsense variant causes the premature termination of BRCA1 protein synthesis. It has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been reported in individuals with breast cancer (PMID: 33471991 (2021), PMID: 21913181 (2012)). Based on the available information, this variant is classified as pathogenic. (less)
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Pathogenic
(Oct 05, 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: SCV003809790.2
First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024 |
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Pathogenic
(Jul 26, 2023)
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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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Invitae
Accession: SCV002229436.3
First in ClinVar: Mar 28, 2022 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Glu733*) 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.Glu733*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of hereditary breast and ovarian cancer syndrome (PMID: 21913181, 29446198). ClinVar contains an entry for this variant (Variation ID: 54494). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Mar 24, 2023)
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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: SCV003923029.1
First in ClinVar: May 13, 2023 Last updated: May 13, 2023 |
Comment:
Variant summary: BRCA1 c.2197G>T (p.Glu733X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Variant summary: BRCA1 c.2197G>T (p.Glu733X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the 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. The variant was absent in 250628 control chromosomes (gnomAD). c.2197G>T has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (e.g. Litton_2012, Rebbeck_2018). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Six ClinVar submitters, including one expert panel (ENIGMA) and one consortium (CIMBA), have assessed the variant since 2014: all six classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Mar 27, 2021)
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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: SCV000607901.5
First in ClinVar: Oct 23, 2017 Last updated: May 01, 2024 |
Comment:
The p.E733* pathogenic mutation (also known as c.2197G>T), located in coding exon 9 of the BRCA1 gene, results from a G to T substitution at … (more)
The p.E733* pathogenic mutation (also known as c.2197G>T), located in coding exon 9 of the BRCA1 gene, results from a G to T substitution at nucleotide position 2197. This changes the amino acid from a glutamic acid to a stop codon within coding exon 9. This mutation has been reported in at least one family with breast and/or ovarian cancer (Litton JK et al. Cancer, 2012 Jan;118:321-5). This mutation was also identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620). 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
(Jun 25, 2012)
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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: SCV000109311.2
First in ClinVar: Dec 23, 2013 Last updated: Sep 27, 2014 |
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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. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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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 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
Earlier age of onset of BRCA mutation-related cancers in subsequent generations. | Litton JK | Cancer | 2012 | PMID: 21913181 |
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 |
Text-mined citations for rs397508949 ...
HelpRecord last updated Jun 10, 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.