ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4656C>G (p.Tyr1552Ter)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4656C>G (p.Tyr1552Ter)
Variation ID: 55253 Accession: VCV000055253.11
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43074350 (GRCh38) [ NCBI UCSC ] 17: 41226367 (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 Apr 1, 2014 May 1, 2024 Sep 8, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4656C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Tyr1552Ter nonsense NM_001407571.1:c.4443C>G NP_001394500.1:p.Tyr1481Ter nonsense NM_001407581.1:c.4722C>G NP_001394510.1:p.Tyr1574Ter nonsense NM_001407582.1:c.4722C>G NP_001394511.1:p.Tyr1574Ter nonsense NM_001407583.1:c.4719C>G NP_001394512.1:p.Tyr1573Ter nonsense NM_001407585.1:c.4719C>G NP_001394514.1:p.Tyr1573Ter nonsense NM_001407587.1:c.4719C>G NP_001394516.1:p.Tyr1573Ter nonsense NM_001407590.1:c.4716C>G NP_001394519.1:p.Tyr1572Ter nonsense NM_001407591.1:c.4716C>G NP_001394520.1:p.Tyr1572Ter nonsense NM_001407593.1:c.4656C>G NP_001394522.1:p.Tyr1552Ter nonsense NM_001407594.1:c.4656C>G NP_001394523.1:p.Tyr1552Ter nonsense NM_001407596.1:c.4656C>G NP_001394525.1:p.Tyr1552Ter nonsense NM_001407597.1:c.4656C>G NP_001394526.1:p.Tyr1552Ter nonsense NM_001407598.1:c.4656C>G NP_001394527.1:p.Tyr1552Ter nonsense NM_001407602.1:c.4656C>G NP_001394531.1:p.Tyr1552Ter nonsense NM_001407603.1:c.4656C>G NP_001394532.1:p.Tyr1552Ter nonsense NM_001407605.1:c.4656C>G NP_001394534.1:p.Tyr1552Ter nonsense NM_001407610.1:c.4653C>G NP_001394539.1:p.Tyr1551Ter nonsense NM_001407611.1:c.4653C>G NP_001394540.1:p.Tyr1551Ter nonsense NM_001407612.1:c.4653C>G NP_001394541.1:p.Tyr1551Ter nonsense NM_001407613.1:c.4653C>G NP_001394542.1:p.Tyr1551Ter nonsense NM_001407614.1:c.4653C>G NP_001394543.1:p.Tyr1551Ter nonsense NM_001407615.1:c.4653C>G NP_001394544.1:p.Tyr1551Ter nonsense NM_001407616.1:c.4653C>G NP_001394545.1:p.Tyr1551Ter nonsense NM_001407617.1:c.4653C>G NP_001394546.1:p.Tyr1551Ter nonsense NM_001407618.1:c.4653C>G NP_001394547.1:p.Tyr1551Ter nonsense NM_001407619.1:c.4653C>G NP_001394548.1:p.Tyr1551Ter nonsense NM_001407620.1:c.4653C>G NP_001394549.1:p.Tyr1551Ter nonsense NM_001407621.1:c.4653C>G NP_001394550.1:p.Tyr1551Ter nonsense NM_001407622.1:c.4653C>G NP_001394551.1:p.Tyr1551Ter nonsense NM_001407623.1:c.4653C>G NP_001394552.1:p.Tyr1551Ter nonsense NM_001407624.1:c.4653C>G NP_001394553.1:p.Tyr1551Ter nonsense NM_001407625.1:c.4653C>G NP_001394554.1:p.Tyr1551Ter nonsense NM_001407626.1:c.4653C>G NP_001394555.1:p.Tyr1551Ter nonsense NM_001407627.1:c.4650C>G NP_001394556.1:p.Tyr1550Ter nonsense NM_001407628.1:c.4650C>G NP_001394557.1:p.Tyr1550Ter nonsense NM_001407629.1:c.4650C>G NP_001394558.1:p.Tyr1550Ter nonsense NM_001407630.1:c.4650C>G NP_001394559.1:p.Tyr1550Ter nonsense NM_001407631.1:c.4650C>G NP_001394560.1:p.Tyr1550Ter nonsense NM_001407632.1:c.4650C>G NP_001394561.1:p.Tyr1550Ter nonsense NM_001407633.1:c.4650C>G NP_001394562.1:p.Tyr1550Ter nonsense NM_001407634.1:c.4650C>G NP_001394563.1:p.Tyr1550Ter nonsense NM_001407635.1:c.4650C>G NP_001394564.1:p.Tyr1550Ter nonsense NM_001407636.1:c.4650C>G NP_001394565.1:p.Tyr1550Ter nonsense NM_001407637.1:c.4650C>G NP_001394566.1:p.Tyr1550Ter nonsense NM_001407638.1:c.4650C>G NP_001394567.1:p.Tyr1550Ter nonsense NM_001407639.1:c.4650C>G NP_001394568.1:p.Tyr1550Ter nonsense NM_001407640.1:c.4650C>G NP_001394569.1:p.Tyr1550Ter nonsense NM_001407641.1:c.4650C>G NP_001394570.1:p.Tyr1550Ter nonsense NM_001407642.1:c.4650C>G NP_001394571.1:p.Tyr1550Ter nonsense NM_001407644.1:c.4647C>G NP_001394573.1:p.Tyr1549Ter nonsense NM_001407645.1:c.4647C>G NP_001394574.1:p.Tyr1549Ter nonsense NM_001407646.1:c.4644C>G NP_001394575.1:p.Tyr1548Ter nonsense NM_001407647.1:c.4641C>G NP_001394576.1:p.Tyr1547Ter nonsense NM_001407648.1:c.4599C>G NP_001394577.1:p.Tyr1533Ter nonsense NM_001407649.1:c.4596C>G NP_001394578.1:p.Tyr1532Ter nonsense NM_001407652.1:c.4656C>G NP_001394581.1:p.Tyr1552Ter nonsense NM_001407653.1:c.4578C>G NP_001394582.1:p.Tyr1526Ter nonsense NM_001407654.1:c.4578C>G NP_001394583.1:p.Tyr1526Ter nonsense NM_001407655.1:c.4578C>G NP_001394584.1:p.Tyr1526Ter nonsense NM_001407656.1:c.4575C>G NP_001394585.1:p.Tyr1525Ter nonsense NM_001407657.1:c.4575C>G NP_001394586.1:p.Tyr1525Ter nonsense NM_001407658.1:c.4575C>G NP_001394587.1:p.Tyr1525Ter nonsense NM_001407659.1:c.4572C>G NP_001394588.1:p.Tyr1524Ter nonsense NM_001407660.1:c.4572C>G NP_001394589.1:p.Tyr1524Ter nonsense NM_001407661.1:c.4572C>G NP_001394590.1:p.Tyr1524Ter nonsense NM_001407662.1:c.4572C>G NP_001394591.1:p.Tyr1524Ter nonsense NM_001407663.1:c.4572C>G NP_001394592.1:p.Tyr1524Ter nonsense NM_001407664.1:c.4533C>G NP_001394593.1:p.Tyr1511Ter nonsense NM_001407665.1:c.4533C>G NP_001394594.1:p.Tyr1511Ter nonsense NM_001407666.1:c.4533C>G NP_001394595.1:p.Tyr1511Ter nonsense NM_001407667.1:c.4533C>G NP_001394596.1:p.Tyr1511Ter nonsense NM_001407668.1:c.4533C>G NP_001394597.1:p.Tyr1511Ter nonsense NM_001407669.1:c.4533C>G NP_001394598.1:p.Tyr1511Ter nonsense NM_001407670.1:c.4530C>G NP_001394599.1:p.Tyr1510Ter nonsense NM_001407671.1:c.4530C>G NP_001394600.1:p.Tyr1510Ter nonsense NM_001407672.1:c.4530C>G NP_001394601.1:p.Tyr1510Ter nonsense NM_001407673.1:c.4530C>G NP_001394602.1:p.Tyr1510Ter nonsense NM_001407674.1:c.4530C>G NP_001394603.1:p.Tyr1510Ter nonsense NM_001407675.1:c.4530C>G NP_001394604.1:p.Tyr1510Ter nonsense NM_001407676.1:c.4530C>G NP_001394605.1:p.Tyr1510Ter nonsense NM_001407677.1:c.4530C>G NP_001394606.1:p.Tyr1510Ter nonsense NM_001407678.1:c.4530C>G NP_001394607.1:p.Tyr1510Ter nonsense NM_001407679.1:c.4530C>G NP_001394608.1:p.Tyr1510Ter nonsense NM_001407680.1:c.4530C>G NP_001394609.1:p.Tyr1510Ter nonsense NM_001407681.1:c.4527C>G NP_001394610.1:p.Tyr1509Ter nonsense NM_001407682.1:c.4527C>G NP_001394611.1:p.Tyr1509Ter nonsense NM_001407683.1:c.4527C>G NP_001394612.1:p.Tyr1509Ter nonsense NM_001407684.1:c.4656C>G NP_001394613.1:p.Tyr1552Ter nonsense NM_001407685.1:c.4527C>G NP_001394614.1:p.Tyr1509Ter nonsense NM_001407686.1:c.4527C>G NP_001394615.1:p.Tyr1509Ter nonsense NM_001407687.1:c.4527C>G NP_001394616.1:p.Tyr1509Ter nonsense NM_001407688.1:c.4527C>G NP_001394617.1:p.Tyr1509Ter nonsense NM_001407689.1:c.4527C>G NP_001394618.1:p.Tyr1509Ter nonsense NM_001407690.1:c.4524C>G NP_001394619.1:p.Tyr1508Ter nonsense NM_001407691.1:c.4524C>G NP_001394620.1:p.Tyr1508Ter nonsense NM_001407692.1:c.4515C>G NP_001394621.1:p.Tyr1505Ter nonsense NM_001407694.1:c.4515C>G NP_001394623.1:p.Tyr1505Ter nonsense NM_001407695.1:c.4515C>G NP_001394624.1:p.Tyr1505Ter nonsense NM_001407696.1:c.4515C>G NP_001394625.1:p.Tyr1505Ter nonsense NM_001407697.1:c.4515C>G NP_001394626.1:p.Tyr1505Ter nonsense NM_001407698.1:c.4515C>G NP_001394627.1:p.Tyr1505Ter nonsense NM_001407724.1:c.4515C>G NP_001394653.1:p.Tyr1505Ter nonsense NM_001407725.1:c.4515C>G NP_001394654.1:p.Tyr1505Ter nonsense NM_001407726.1:c.4515C>G NP_001394655.1:p.Tyr1505Ter nonsense NM_001407727.1:c.4515C>G NP_001394656.1:p.Tyr1505Ter nonsense NM_001407728.1:c.4515C>G NP_001394657.1:p.Tyr1505Ter nonsense NM_001407729.1:c.4515C>G NP_001394658.1:p.Tyr1505Ter nonsense NM_001407730.1:c.4515C>G NP_001394659.1:p.Tyr1505Ter nonsense NM_001407731.1:c.4515C>G NP_001394660.1:p.Tyr1505Ter nonsense NM_001407732.1:c.4512C>G NP_001394661.1:p.Tyr1504Ter nonsense NM_001407733.1:c.4512C>G NP_001394662.1:p.Tyr1504Ter nonsense NM_001407734.1:c.4512C>G NP_001394663.1:p.Tyr1504Ter nonsense NM_001407735.1:c.4512C>G NP_001394664.1:p.Tyr1504Ter nonsense NM_001407736.1:c.4512C>G NP_001394665.1:p.Tyr1504Ter nonsense NM_001407737.1:c.4512C>G NP_001394666.1:p.Tyr1504Ter nonsense NM_001407738.1:c.4512C>G NP_001394667.1:p.Tyr1504Ter nonsense NM_001407739.1:c.4512C>G NP_001394668.1:p.Tyr1504Ter nonsense NM_001407740.1:c.4512C>G NP_001394669.1:p.Tyr1504Ter nonsense NM_001407741.1:c.4512C>G NP_001394670.1:p.Tyr1504Ter nonsense NM_001407742.1:c.4512C>G NP_001394671.1:p.Tyr1504Ter nonsense NM_001407743.1:c.4512C>G NP_001394672.1:p.Tyr1504Ter nonsense NM_001407744.1:c.4512C>G NP_001394673.1:p.Tyr1504Ter nonsense NM_001407745.1:c.4512C>G NP_001394674.1:p.Tyr1504Ter nonsense NM_001407746.1:c.4512C>G NP_001394675.1:p.Tyr1504Ter nonsense NM_001407747.1:c.4512C>G NP_001394676.1:p.Tyr1504Ter nonsense NM_001407748.1:c.4512C>G NP_001394677.1:p.Tyr1504Ter nonsense NM_001407749.1:c.4512C>G NP_001394678.1:p.Tyr1504Ter nonsense NM_001407750.1:c.4512C>G NP_001394679.1:p.Tyr1504Ter nonsense NM_001407751.1:c.4512C>G NP_001394680.1:p.Tyr1504Ter nonsense NM_001407752.1:c.4512C>G NP_001394681.1:p.Tyr1504Ter nonsense NM_001407838.1:c.4509C>G NP_001394767.1:p.Tyr1503Ter nonsense NM_001407839.1:c.4509C>G NP_001394768.1:p.Tyr1503Ter nonsense NM_001407841.1:c.4509C>G NP_001394770.1:p.Tyr1503Ter nonsense NM_001407842.1:c.4509C>G NP_001394771.1:p.Tyr1503Ter nonsense NM_001407843.1:c.4509C>G NP_001394772.1:p.Tyr1503Ter nonsense NM_001407844.1:c.4509C>G NP_001394773.1:p.Tyr1503Ter nonsense NM_001407845.1:c.4509C>G NP_001394774.1:p.Tyr1503Ter nonsense NM_001407846.1:c.4509C>G NP_001394775.1:p.Tyr1503Ter nonsense NM_001407847.1:c.4509C>G NP_001394776.1:p.Tyr1503Ter nonsense NM_001407848.1:c.4509C>G NP_001394777.1:p.Tyr1503Ter nonsense NM_001407849.1:c.4509C>G NP_001394778.1:p.Tyr1503Ter nonsense NM_001407850.1:c.4509C>G NP_001394779.1:p.Tyr1503Ter nonsense NM_001407851.1:c.4509C>G NP_001394780.1:p.Tyr1503Ter nonsense NM_001407852.1:c.4509C>G NP_001394781.1:p.Tyr1503Ter nonsense NM_001407853.1:c.4509C>G NP_001394782.1:p.Tyr1503Ter nonsense NM_001407854.1:c.4656C>G NP_001394783.1:p.Tyr1552Ter nonsense NM_001407858.1:c.4653C>G NP_001394787.1:p.Tyr1551Ter nonsense NM_001407859.1:c.4653C>G NP_001394788.1:p.Tyr1551Ter nonsense NM_001407860.1:c.4653C>G NP_001394789.1:p.Tyr1551Ter nonsense NM_001407861.1:c.4650C>G NP_001394790.1:p.Tyr1550Ter nonsense NM_001407862.1:c.4455C>G NP_001394791.1:p.Tyr1485Ter nonsense NM_001407863.1:c.4530C>G NP_001394792.1:p.Tyr1510Ter nonsense NM_001407874.1:c.4449C>G NP_001394803.1:p.Tyr1483Ter nonsense NM_001407875.1:c.4449C>G NP_001394804.1:p.Tyr1483Ter nonsense NM_001407879.1:c.4446C>G NP_001394808.1:p.Tyr1482Ter nonsense NM_001407881.1:c.4446C>G NP_001394810.1:p.Tyr1482Ter nonsense NM_001407882.1:c.4446C>G NP_001394811.1:p.Tyr1482Ter nonsense NM_001407884.1:c.4446C>G NP_001394813.1:p.Tyr1482Ter nonsense NM_001407885.1:c.4446C>G NP_001394814.1:p.Tyr1482Ter nonsense NM_001407886.1:c.4446C>G NP_001394815.1:p.Tyr1482Ter nonsense NM_001407887.1:c.4446C>G NP_001394816.1:p.Tyr1482Ter nonsense NM_001407889.1:c.4446C>G NP_001394818.1:p.Tyr1482Ter nonsense NM_001407894.1:c.4443C>G NP_001394823.1:p.Tyr1481Ter nonsense NM_001407895.1:c.4443C>G NP_001394824.1:p.Tyr1481Ter nonsense NM_001407896.1:c.4443C>G NP_001394825.1:p.Tyr1481Ter nonsense NM_001407897.1:c.4443C>G NP_001394826.1:p.Tyr1481Ter nonsense NM_001407898.1:c.4443C>G NP_001394827.1:p.Tyr1481Ter nonsense NM_001407899.1:c.4443C>G NP_001394828.1:p.Tyr1481Ter nonsense NM_001407900.1:c.4443C>G NP_001394829.1:p.Tyr1481Ter nonsense NM_001407902.1:c.4443C>G NP_001394831.1:p.Tyr1481Ter nonsense NM_001407904.1:c.4443C>G NP_001394833.1:p.Tyr1481Ter nonsense NM_001407906.1:c.4443C>G NP_001394835.1:p.Tyr1481Ter nonsense NM_001407907.1:c.4443C>G NP_001394836.1:p.Tyr1481Ter nonsense NM_001407908.1:c.4443C>G NP_001394837.1:p.Tyr1481Ter nonsense NM_001407909.1:c.4443C>G NP_001394838.1:p.Tyr1481Ter nonsense NM_001407910.1:c.4443C>G NP_001394839.1:p.Tyr1481Ter nonsense NM_001407915.1:c.4440C>G NP_001394844.1:p.Tyr1480Ter nonsense NM_001407916.1:c.4440C>G NP_001394845.1:p.Tyr1480Ter nonsense NM_001407917.1:c.4440C>G NP_001394846.1:p.Tyr1480Ter nonsense NM_001407918.1:c.4440C>G NP_001394847.1:p.Tyr1480Ter nonsense NM_001407919.1:c.4533C>G NP_001394848.1:p.Tyr1511Ter nonsense NM_001407920.1:c.4392C>G NP_001394849.1:p.Tyr1464Ter nonsense NM_001407921.1:c.4392C>G NP_001394850.1:p.Tyr1464Ter nonsense NM_001407922.1:c.4392C>G NP_001394851.1:p.Tyr1464Ter nonsense NM_001407923.1:c.4392C>G NP_001394852.1:p.Tyr1464Ter nonsense NM_001407924.1:c.4392C>G NP_001394853.1:p.Tyr1464Ter nonsense NM_001407925.1:c.4392C>G NP_001394854.1:p.Tyr1464Ter nonsense NM_001407926.1:c.4392C>G NP_001394855.1:p.Tyr1464Ter nonsense NM_001407927.1:c.4389C>G NP_001394856.1:p.Tyr1463Ter nonsense NM_001407928.1:c.4389C>G NP_001394857.1:p.Tyr1463Ter nonsense NM_001407929.1:c.4389C>G NP_001394858.1:p.Tyr1463Ter nonsense NM_001407930.1:c.4389C>G NP_001394859.1:p.Tyr1463Ter nonsense NM_001407931.1:c.4389C>G NP_001394860.1:p.Tyr1463Ter nonsense NM_001407932.1:c.4389C>G NP_001394861.1:p.Tyr1463Ter nonsense NM_001407933.1:c.4389C>G NP_001394862.1:p.Tyr1463Ter nonsense NM_001407934.1:c.4386C>G NP_001394863.1:p.Tyr1462Ter nonsense NM_001407935.1:c.4386C>G NP_001394864.1:p.Tyr1462Ter nonsense NM_001407936.1:c.4386C>G NP_001394865.1:p.Tyr1462Ter nonsense NM_001407937.1:c.4533C>G NP_001394866.1:p.Tyr1511Ter nonsense NM_001407938.1:c.4533C>G NP_001394867.1:p.Tyr1511Ter nonsense NM_001407939.1:c.4530C>G NP_001394868.1:p.Tyr1510Ter nonsense NM_001407940.1:c.4530C>G NP_001394869.1:p.Tyr1510Ter nonsense NM_001407941.1:c.4527C>G NP_001394870.1:p.Tyr1509Ter nonsense NM_001407942.1:c.4515C>G NP_001394871.1:p.Tyr1505Ter nonsense NM_001407943.1:c.4512C>G NP_001394872.1:p.Tyr1504Ter nonsense NM_001407944.1:c.4512C>G NP_001394873.1:p.Tyr1504Ter nonsense NM_001407945.1:c.4512C>G NP_001394874.1:p.Tyr1504Ter nonsense NM_001407946.1:c.4323C>G NP_001394875.1:p.Tyr1441Ter nonsense NM_001407947.1:c.4323C>G NP_001394876.1:p.Tyr1441Ter nonsense NM_001407948.1:c.4323C>G NP_001394877.1:p.Tyr1441Ter nonsense NM_001407949.1:c.4323C>G NP_001394878.1:p.Tyr1441Ter nonsense NM_001407950.1:c.4320C>G NP_001394879.1:p.Tyr1440Ter nonsense NM_001407951.1:c.4320C>G NP_001394880.1:p.Tyr1440Ter nonsense NM_001407952.1:c.4320C>G NP_001394881.1:p.Tyr1440Ter nonsense NM_001407953.1:c.4320C>G NP_001394882.1:p.Tyr1440Ter nonsense NM_001407954.1:c.4320C>G NP_001394883.1:p.Tyr1440Ter nonsense NM_001407955.1:c.4320C>G NP_001394884.1:p.Tyr1440Ter nonsense NM_001407956.1:c.4317C>G NP_001394885.1:p.Tyr1439Ter nonsense NM_001407957.1:c.4317C>G NP_001394886.1:p.Tyr1439Ter nonsense NM_001407958.1:c.4317C>G NP_001394887.1:p.Tyr1439Ter nonsense NM_001407959.1:c.4275C>G NP_001394888.1:p.Tyr1425Ter nonsense NM_001407960.1:c.4272C>G NP_001394889.1:p.Tyr1424Ter nonsense NM_001407962.1:c.4272C>G NP_001394891.1:p.Tyr1424Ter nonsense NM_001407963.1:c.4269C>G NP_001394892.1:p.Tyr1423Ter nonsense NM_001407965.1:c.4149C>G NP_001394894.1:p.Tyr1383Ter nonsense NM_001407966.1:c.3768C>G NP_001394895.1:p.Tyr1256Ter nonsense NM_001407967.1:c.3765C>G NP_001394896.1:p.Tyr1255Ter nonsense NM_001407968.1:c.2052C>G NP_001394897.1:p.Tyr684Ter nonsense NM_001407969.1:c.2049C>G NP_001394898.1:p.Tyr683Ter nonsense NM_001407970.1:c.1413C>G NP_001394899.1:p.Tyr471Ter nonsense NM_001407971.1:c.1413C>G NP_001394900.1:p.Tyr471Ter nonsense NM_001407972.1:c.1410C>G NP_001394901.1:p.Tyr470Ter nonsense NM_001407973.1:c.1347C>G NP_001394902.1:p.Tyr449Ter nonsense NM_001407974.1:c.1347C>G NP_001394903.1:p.Tyr449Ter nonsense NM_001407975.1:c.1347C>G NP_001394904.1:p.Tyr449Ter nonsense NM_001407976.1:c.1347C>G NP_001394905.1:p.Tyr449Ter nonsense NM_001407977.1:c.1347C>G NP_001394906.1:p.Tyr449Ter nonsense NM_001407978.1:c.1347C>G NP_001394907.1:p.Tyr449Ter nonsense NM_001407979.1:c.1344C>G NP_001394908.1:p.Tyr448Ter nonsense NM_001407980.1:c.1344C>G NP_001394909.1:p.Tyr448Ter nonsense NM_001407981.1:c.1344C>G NP_001394910.1:p.Tyr448Ter nonsense NM_001407982.1:c.1344C>G NP_001394911.1:p.Tyr448Ter nonsense NM_001407983.1:c.1344C>G NP_001394912.1:p.Tyr448Ter nonsense NM_001407984.1:c.1344C>G NP_001394913.1:p.Tyr448Ter nonsense NM_001407985.1:c.1344C>G NP_001394914.1:p.Tyr448Ter nonsense NM_001407986.1:c.1344C>G NP_001394915.1:p.Tyr448Ter nonsense NM_001407990.1:c.1344C>G NP_001394919.1:p.Tyr448Ter nonsense NM_001407991.1:c.1344C>G NP_001394920.1:p.Tyr448Ter nonsense NM_001407992.1:c.1344C>G NP_001394921.1:p.Tyr448Ter nonsense NM_001407993.1:c.1344C>G NP_001394922.1:p.Tyr448Ter nonsense NM_001408392.1:c.1341C>G NP_001395321.1:p.Tyr447Ter nonsense NM_001408396.1:c.1341C>G NP_001395325.1:p.Tyr447Ter nonsense NM_001408397.1:c.1341C>G NP_001395326.1:p.Tyr447Ter nonsense NM_001408398.1:c.1341C>G NP_001395327.1:p.Tyr447Ter nonsense NM_001408399.1:c.1341C>G NP_001395328.1:p.Tyr447Ter nonsense NM_001408400.1:c.1341C>G NP_001395329.1:p.Tyr447Ter nonsense NM_001408401.1:c.1341C>G NP_001395330.1:p.Tyr447Ter nonsense NM_001408402.1:c.1341C>G NP_001395331.1:p.Tyr447Ter nonsense NM_001408403.1:c.1341C>G NP_001395332.1:p.Tyr447Ter nonsense NM_001408404.1:c.1341C>G NP_001395333.1:p.Tyr447Ter nonsense NM_001408406.1:c.1338C>G NP_001395335.1:p.Tyr446Ter nonsense NM_001408407.1:c.1338C>G NP_001395336.1:p.Tyr446Ter nonsense NM_001408408.1:c.1338C>G NP_001395337.1:p.Tyr446Ter nonsense NM_001408409.1:c.1335C>G NP_001395338.1:p.Tyr445Ter nonsense NM_001408410.1:c.1272C>G NP_001395339.1:p.Tyr424Ter nonsense NM_001408411.1:c.1269C>G NP_001395340.1:p.Tyr423Ter nonsense NM_001408412.1:c.1266C>G NP_001395341.1:p.Tyr422Ter nonsense NM_001408413.1:c.1266C>G NP_001395342.1:p.Tyr422Ter nonsense NM_001408414.1:c.1266C>G NP_001395343.1:p.Tyr422Ter nonsense NM_001408415.1:c.1266C>G NP_001395344.1:p.Tyr422Ter nonsense NM_001408416.1:c.1266C>G NP_001395345.1:p.Tyr422Ter nonsense NM_001408418.1:c.1230C>G NP_001395347.1:p.Tyr410Ter nonsense NM_001408419.1:c.1230C>G NP_001395348.1:p.Tyr410Ter nonsense NM_001408420.1:c.1230C>G NP_001395349.1:p.Tyr410Ter nonsense NM_001408421.1:c.1227C>G NP_001395350.1:p.Tyr409Ter nonsense NM_001408422.1:c.1227C>G NP_001395351.1:p.Tyr409Ter nonsense NM_001408423.1:c.1227C>G NP_001395352.1:p.Tyr409Ter nonsense NM_001408424.1:c.1227C>G NP_001395353.1:p.Tyr409Ter nonsense NM_001408425.1:c.1224C>G NP_001395354.1:p.Tyr408Ter nonsense NM_001408426.1:c.1224C>G NP_001395355.1:p.Tyr408Ter nonsense NM_001408427.1:c.1224C>G NP_001395356.1:p.Tyr408Ter nonsense NM_001408428.1:c.1224C>G NP_001395357.1:p.Tyr408Ter nonsense NM_001408429.1:c.1224C>G NP_001395358.1:p.Tyr408Ter nonsense NM_001408430.1:c.1224C>G NP_001395359.1:p.Tyr408Ter nonsense NM_001408431.1:c.1224C>G NP_001395360.1:p.Tyr408Ter nonsense NM_001408432.1:c.1221C>G NP_001395361.1:p.Tyr407Ter nonsense NM_001408433.1:c.1221C>G NP_001395362.1:p.Tyr407Ter nonsense NM_001408434.1:c.1221C>G NP_001395363.1:p.Tyr407Ter nonsense NM_001408435.1:c.1221C>G NP_001395364.1:p.Tyr407Ter nonsense NM_001408436.1:c.1221C>G NP_001395365.1:p.Tyr407Ter nonsense NM_001408437.1:c.1221C>G NP_001395366.1:p.Tyr407Ter nonsense NM_001408438.1:c.1221C>G NP_001395367.1:p.Tyr407Ter nonsense NM_001408439.1:c.1221C>G NP_001395368.1:p.Tyr407Ter nonsense NM_001408440.1:c.1221C>G NP_001395369.1:p.Tyr407Ter nonsense NM_001408441.1:c.1221C>G NP_001395370.1:p.Tyr407Ter nonsense NM_001408442.1:c.1221C>G NP_001395371.1:p.Tyr407Ter nonsense NM_001408443.1:c.1221C>G NP_001395372.1:p.Tyr407Ter nonsense NM_001408444.1:c.1221C>G NP_001395373.1:p.Tyr407Ter nonsense NM_001408445.1:c.1218C>G NP_001395374.1:p.Tyr406Ter nonsense NM_001408446.1:c.1218C>G NP_001395375.1:p.Tyr406Ter nonsense NM_001408447.1:c.1218C>G NP_001395376.1:p.Tyr406Ter nonsense NM_001408448.1:c.1218C>G NP_001395377.1:p.Tyr406Ter nonsense NM_001408450.1:c.1218C>G NP_001395379.1:p.Tyr406Ter nonsense NM_001408451.1:c.1212C>G NP_001395380.1:p.Tyr404Ter nonsense NM_001408452.1:c.1206C>G NP_001395381.1:p.Tyr402Ter nonsense NM_001408453.1:c.1206C>G NP_001395382.1:p.Tyr402Ter nonsense NM_001408454.1:c.1206C>G NP_001395383.1:p.Tyr402Ter nonsense NM_001408455.1:c.1206C>G NP_001395384.1:p.Tyr402Ter nonsense NM_001408456.1:c.1206C>G NP_001395385.1:p.Tyr402Ter nonsense NM_001408457.1:c.1206C>G NP_001395386.1:p.Tyr402Ter nonsense NM_001408458.1:c.1203C>G NP_001395387.1:p.Tyr401Ter nonsense NM_001408459.1:c.1203C>G NP_001395388.1:p.Tyr401Ter nonsense NM_001408460.1:c.1203C>G NP_001395389.1:p.Tyr401Ter nonsense NM_001408461.1:c.1203C>G NP_001395390.1:p.Tyr401Ter nonsense NM_001408462.1:c.1203C>G NP_001395391.1:p.Tyr401Ter nonsense NM_001408463.1:c.1203C>G NP_001395392.1:p.Tyr401Ter nonsense NM_001408464.1:c.1203C>G NP_001395393.1:p.Tyr401Ter nonsense NM_001408465.1:c.1203C>G NP_001395394.1:p.Tyr401Ter nonsense NM_001408466.1:c.1203C>G NP_001395395.1:p.Tyr401Ter nonsense NM_001408467.1:c.1203C>G NP_001395396.1:p.Tyr401Ter nonsense NM_001408468.1:c.1200C>G NP_001395397.1:p.Tyr400Ter nonsense NM_001408469.1:c.1200C>G NP_001395398.1:p.Tyr400Ter nonsense NM_001408470.1:c.1200C>G NP_001395399.1:p.Tyr400Ter nonsense NM_001408472.1:c.1344C>G NP_001395401.1:p.Tyr448Ter nonsense NM_001408473.1:c.1341C>G NP_001395402.1:p.Tyr447Ter nonsense NM_001408474.1:c.1146C>G NP_001395403.1:p.Tyr382Ter nonsense NM_001408475.1:c.1143C>G NP_001395404.1:p.Tyr381Ter nonsense NM_001408476.1:c.1143C>G NP_001395405.1:p.Tyr381Ter nonsense NM_001408478.1:c.1137C>G NP_001395407.1:p.Tyr379Ter nonsense NM_001408479.1:c.1137C>G NP_001395408.1:p.Tyr379Ter nonsense NM_001408480.1:c.1137C>G NP_001395409.1:p.Tyr379Ter nonsense NM_001408481.1:c.1134C>G NP_001395410.1:p.Tyr378Ter nonsense NM_001408482.1:c.1134C>G NP_001395411.1:p.Tyr378Ter nonsense NM_001408483.1:c.1134C>G NP_001395412.1:p.Tyr378Ter nonsense NM_001408484.1:c.1134C>G NP_001395413.1:p.Tyr378Ter nonsense NM_001408485.1:c.1134C>G NP_001395414.1:p.Tyr378Ter nonsense NM_001408489.1:c.1134C>G NP_001395418.1:p.Tyr378Ter nonsense NM_001408490.1:c.1134C>G NP_001395419.1:p.Tyr378Ter nonsense NM_001408491.1:c.1134C>G NP_001395420.1:p.Tyr378Ter nonsense NM_001408492.1:c.1131C>G NP_001395421.1:p.Tyr377Ter nonsense NM_001408493.1:c.1131C>G NP_001395422.1:p.Tyr377Ter nonsense NM_001408494.1:c.1107C>G NP_001395423.1:p.Tyr369Ter nonsense NM_001408495.1:c.1101C>G NP_001395424.1:p.Tyr367Ter nonsense NM_001408496.1:c.1083C>G NP_001395425.1:p.Tyr361Ter nonsense NM_001408497.1:c.1083C>G NP_001395426.1:p.Tyr361Ter nonsense NM_001408498.1:c.1083C>G NP_001395427.1:p.Tyr361Ter nonsense NM_001408499.1:c.1083C>G NP_001395428.1:p.Tyr361Ter nonsense NM_001408500.1:c.1083C>G NP_001395429.1:p.Tyr361Ter nonsense NM_001408501.1:c.1083C>G NP_001395430.1:p.Tyr361Ter nonsense NM_001408502.1:c.1080C>G NP_001395431.1:p.Tyr360Ter nonsense NM_001408503.1:c.1080C>G NP_001395432.1:p.Tyr360Ter nonsense NM_001408504.1:c.1080C>G NP_001395433.1:p.Tyr360Ter nonsense NM_001408505.1:c.1077C>G NP_001395434.1:p.Tyr359Ter nonsense NM_001408506.1:c.1020C>G NP_001395435.1:p.Tyr340Ter nonsense NM_001408507.1:c.1017C>G NP_001395436.1:p.Tyr339Ter nonsense NM_001408508.1:c.1008C>G NP_001395437.1:p.Tyr336Ter nonsense NM_001408509.1:c.1005C>G NP_001395438.1:p.Tyr335Ter nonsense NM_001408510.1:c.966C>G NP_001395439.1:p.Tyr322Ter nonsense NM_001408511.1:c.963C>G NP_001395440.1:p.Tyr321Ter nonsense NM_001408512.1:c.843C>G NP_001395441.1:p.Tyr281Ter nonsense NM_007297.4:c.4515C>G NP_009228.2:p.Tyr1505Ter nonsense NM_007298.4:c.1344C>G NP_009229.2:p.Tyr448Ter nonsense NM_007299.4:c.1344C>G NP_009230.2:p.Tyr448Ter nonsense NM_007300.4:c.4719C>G NP_009231.2:p.Tyr1573Ter nonsense NM_007304.2:c.1344C>G NP_009235.2:p.Tyr448Ter nonsense NR_027676.2:n.4833C>G non-coding transcript variant NC_000017.11:g.43074350G>C NC_000017.10:g.41226367G>C NG_005905.2:g.143634C>G LRG_292:g.143634C>G LRG_292t1:c.4656C>G LRG_292p1:p.Tyr1552Ter U14680.1:n.4775C>G - Protein change
- Y1552*, Y1505*, Y1573*, Y448*, Y1255*, Y1441*, Y1480*, Y1483*, Y1509*, Y1510*, Y1511*, Y1524*, Y1548*, Y1572*, Y335*, Y378*, Y382*, Y401*, Y407*, Y445*, Y470*, Y1256*, Y1383*, Y1462*, Y1503*, Y1504*, Y1508*, Y1526*, Y1550*, Y1551*, Y321*, Y340*, Y360*, Y1425*, Y1440*, Y1463*, Y1481*, Y1485*, Y1532*, Y1549*, Y1574*, Y322*, Y336*, Y367*, Y379*, Y404*, Y423*, Y471*, Y361*, Y377*, Y402*, Y406*, Y449*, Y1423*, Y1424*, Y1439*, Y1464*, Y1482*, Y1525*, Y1533*, Y1547*, Y281*, Y339*, Y359*, Y369*, Y381*, Y400*, Y408*, Y409*, Y410*, Y422*, Y424*, Y446*, Y447*, Y683*, Y684*
- Other names
- -
- Canonical SPDI
- NC_000017.11:43074349:G:C
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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 |
12940 | 14730 |
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 (2) |
criteria provided, single submitter
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Apr 13, 2016 | RCV000048620.15 | |
Pathogenic (3) |
reviewed by expert panel
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Sep 8, 2016 | RCV000112374.13 | |
Pathogenic (1) |
criteria provided, single submitter
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Sep 11, 2020 | RCV002326777.9 |
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. |
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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: SCV000300150.2
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
(Apr 13, 2016)
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criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000076633.7
First in ClinVar: Jul 03, 2013 Last updated: Feb 20, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. Truncating variants in BRCA1 are known to be pathogenic. This particular truncation has been reported … (more)
For these reasons, this variant has been classified as Pathogenic. Truncating variants in BRCA1 are known to be pathogenic. This particular truncation has been reported in the literature in an individual with breast and/or ovarian cancer (PMID: 22970155). This sequence change creates a premature translational stop signal at codon 1552 (p.Tyr1552*) of the BRCA1 gene. It is expected to result in an absent or disrupted protein product. (less)
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Pathogenic
(Sep 11, 2020)
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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: SCV002634279.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The p.Y1552* pathogenic mutation (also known as c.4656C>G), located in coding exon 13 of the BRCA1 gene, results from a C to G substitution at … (more)
The p.Y1552* pathogenic mutation (also known as c.4656C>G), located in coding exon 13 of the BRCA1 gene, results from a C to G substitution at nucleotide position 4656. This changes the amino acid from a tyrosine to a stop codon within coding exon 13. This alteration was identified in 1/651 Chinese high-risk breast and/or ovarian cancer patients (Kwong A et al. PLoS ONE, 2012 Sep;7:e43994) and in an individual with breast and ovarian cancer from a cohort of 95 Finnish patients undergoing gene-panel testing (Pelttari LM et al. Clin. Genet., 2018 03;93:595-602).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
(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: SCV000326013.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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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: SCV000587414.1 First in ClinVar: Aug 05, 2017 Last updated: Aug 05, 2017 |
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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,
somatic
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000145141.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European
Observation 2:
Number of individuals with the variant: 1
Ethnicity/Population group: Chinese
Geographic origin: Hong Kong
|
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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Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication. | Pelttari LM | Clinical genetics | 2018 | PMID: 28802053 |
Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis. | Kwong A | PloS one | 2012 | PMID: 22970155 |
Text-mined citations for rs80357151 ...
HelpRecord last updated Jul 15, 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.