ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4566C>G (p.Tyr1522Ter)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4566C>G (p.Tyr1522Ter)
Variation ID: 266481 Accession: VCV000266481.7
- Type and length
-
single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43074440 (GRCh38) [ NCBI UCSC ] 17: 41226457 (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 Oct 22, 2016 May 6, 2023 Oct 18, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4566C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Tyr1522Ter nonsense NM_001407571.1:c.4353C>G NP_001394500.1:p.Tyr1451Ter nonsense NM_001407581.1:c.4632C>G NP_001394510.1:p.Tyr1544Ter nonsense NM_001407582.1:c.4632C>G NP_001394511.1:p.Tyr1544Ter nonsense NM_001407583.1:c.4629C>G NP_001394512.1:p.Tyr1543Ter nonsense NM_001407585.1:c.4629C>G NP_001394514.1:p.Tyr1543Ter nonsense NM_001407587.1:c.4629C>G NP_001394516.1:p.Tyr1543Ter nonsense NM_001407590.1:c.4626C>G NP_001394519.1:p.Tyr1542Ter nonsense NM_001407591.1:c.4626C>G NP_001394520.1:p.Tyr1542Ter nonsense NM_001407593.1:c.4566C>G NP_001394522.1:p.Tyr1522Ter nonsense NM_001407594.1:c.4566C>G NP_001394523.1:p.Tyr1522Ter nonsense NM_001407596.1:c.4566C>G NP_001394525.1:p.Tyr1522Ter nonsense NM_001407597.1:c.4566C>G NP_001394526.1:p.Tyr1522Ter nonsense NM_001407598.1:c.4566C>G NP_001394527.1:p.Tyr1522Ter nonsense NM_001407602.1:c.4566C>G NP_001394531.1:p.Tyr1522Ter nonsense NM_001407603.1:c.4566C>G NP_001394532.1:p.Tyr1522Ter nonsense NM_001407605.1:c.4566C>G NP_001394534.1:p.Tyr1522Ter nonsense NM_001407610.1:c.4563C>G NP_001394539.1:p.Tyr1521Ter nonsense NM_001407611.1:c.4563C>G NP_001394540.1:p.Tyr1521Ter nonsense NM_001407612.1:c.4563C>G NP_001394541.1:p.Tyr1521Ter nonsense NM_001407613.1:c.4563C>G NP_001394542.1:p.Tyr1521Ter nonsense NM_001407614.1:c.4563C>G NP_001394543.1:p.Tyr1521Ter nonsense NM_001407615.1:c.4563C>G NP_001394544.1:p.Tyr1521Ter nonsense NM_001407616.1:c.4563C>G NP_001394545.1:p.Tyr1521Ter nonsense NM_001407617.1:c.4563C>G NP_001394546.1:p.Tyr1521Ter nonsense NM_001407618.1:c.4563C>G NP_001394547.1:p.Tyr1521Ter nonsense NM_001407619.1:c.4563C>G NP_001394548.1:p.Tyr1521Ter nonsense NM_001407620.1:c.4563C>G NP_001394549.1:p.Tyr1521Ter nonsense NM_001407621.1:c.4563C>G NP_001394550.1:p.Tyr1521Ter nonsense NM_001407622.1:c.4563C>G NP_001394551.1:p.Tyr1521Ter nonsense NM_001407623.1:c.4563C>G NP_001394552.1:p.Tyr1521Ter nonsense NM_001407624.1:c.4563C>G NP_001394553.1:p.Tyr1521Ter nonsense NM_001407625.1:c.4563C>G NP_001394554.1:p.Tyr1521Ter nonsense NM_001407626.1:c.4563C>G NP_001394555.1:p.Tyr1521Ter nonsense NM_001407627.1:c.4560C>G NP_001394556.1:p.Tyr1520Ter nonsense NM_001407628.1:c.4560C>G NP_001394557.1:p.Tyr1520Ter nonsense NM_001407629.1:c.4560C>G NP_001394558.1:p.Tyr1520Ter nonsense NM_001407630.1:c.4560C>G NP_001394559.1:p.Tyr1520Ter nonsense NM_001407631.1:c.4560C>G NP_001394560.1:p.Tyr1520Ter nonsense NM_001407632.1:c.4560C>G NP_001394561.1:p.Tyr1520Ter nonsense NM_001407633.1:c.4560C>G NP_001394562.1:p.Tyr1520Ter nonsense NM_001407634.1:c.4560C>G NP_001394563.1:p.Tyr1520Ter nonsense NM_001407635.1:c.4560C>G NP_001394564.1:p.Tyr1520Ter nonsense NM_001407636.1:c.4560C>G NP_001394565.1:p.Tyr1520Ter nonsense NM_001407637.1:c.4560C>G NP_001394566.1:p.Tyr1520Ter nonsense NM_001407638.1:c.4560C>G NP_001394567.1:p.Tyr1520Ter nonsense NM_001407639.1:c.4560C>G NP_001394568.1:p.Tyr1520Ter nonsense NM_001407640.1:c.4560C>G NP_001394569.1:p.Tyr1520Ter nonsense NM_001407641.1:c.4560C>G NP_001394570.1:p.Tyr1520Ter nonsense NM_001407642.1:c.4560C>G NP_001394571.1:p.Tyr1520Ter nonsense NM_001407644.1:c.4557C>G NP_001394573.1:p.Tyr1519Ter nonsense NM_001407645.1:c.4557C>G NP_001394574.1:p.Tyr1519Ter nonsense NM_001407646.1:c.4554C>G NP_001394575.1:p.Tyr1518Ter nonsense NM_001407647.1:c.4551C>G NP_001394576.1:p.Tyr1517Ter nonsense NM_001407648.1:c.4509C>G NP_001394577.1:p.Tyr1503Ter nonsense NM_001407649.1:c.4506C>G NP_001394578.1:p.Tyr1502Ter nonsense NM_001407652.1:c.4566C>G NP_001394581.1:p.Tyr1522Ter nonsense NM_001407653.1:c.4488C>G NP_001394582.1:p.Tyr1496Ter nonsense NM_001407654.1:c.4488C>G NP_001394583.1:p.Tyr1496Ter nonsense NM_001407655.1:c.4488C>G NP_001394584.1:p.Tyr1496Ter nonsense NM_001407656.1:c.4485C>G NP_001394585.1:p.Tyr1495Ter nonsense NM_001407657.1:c.4485C>G NP_001394586.1:p.Tyr1495Ter nonsense NM_001407658.1:c.4485C>G NP_001394587.1:p.Tyr1495Ter nonsense NM_001407659.1:c.4482C>G NP_001394588.1:p.Tyr1494Ter nonsense NM_001407660.1:c.4482C>G NP_001394589.1:p.Tyr1494Ter nonsense NM_001407661.1:c.4482C>G NP_001394590.1:p.Tyr1494Ter nonsense NM_001407662.1:c.4482C>G NP_001394591.1:p.Tyr1494Ter nonsense NM_001407663.1:c.4482C>G NP_001394592.1:p.Tyr1494Ter nonsense NM_001407664.1:c.4443C>G NP_001394593.1:p.Tyr1481Ter nonsense NM_001407665.1:c.4443C>G NP_001394594.1:p.Tyr1481Ter nonsense NM_001407666.1:c.4443C>G NP_001394595.1:p.Tyr1481Ter nonsense NM_001407667.1:c.4443C>G NP_001394596.1:p.Tyr1481Ter nonsense NM_001407668.1:c.4443C>G NP_001394597.1:p.Tyr1481Ter nonsense NM_001407669.1:c.4443C>G NP_001394598.1:p.Tyr1481Ter nonsense NM_001407670.1:c.4440C>G NP_001394599.1:p.Tyr1480Ter nonsense NM_001407671.1:c.4440C>G NP_001394600.1:p.Tyr1480Ter nonsense NM_001407672.1:c.4440C>G NP_001394601.1:p.Tyr1480Ter nonsense NM_001407673.1:c.4440C>G NP_001394602.1:p.Tyr1480Ter nonsense NM_001407674.1:c.4440C>G NP_001394603.1:p.Tyr1480Ter nonsense NM_001407675.1:c.4440C>G NP_001394604.1:p.Tyr1480Ter nonsense NM_001407676.1:c.4440C>G NP_001394605.1:p.Tyr1480Ter nonsense NM_001407677.1:c.4440C>G NP_001394606.1:p.Tyr1480Ter nonsense NM_001407678.1:c.4440C>G NP_001394607.1:p.Tyr1480Ter nonsense NM_001407679.1:c.4440C>G NP_001394608.1:p.Tyr1480Ter nonsense NM_001407680.1:c.4440C>G NP_001394609.1:p.Tyr1480Ter nonsense NM_001407681.1:c.4437C>G NP_001394610.1:p.Tyr1479Ter nonsense NM_001407682.1:c.4437C>G NP_001394611.1:p.Tyr1479Ter nonsense NM_001407683.1:c.4437C>G NP_001394612.1:p.Tyr1479Ter nonsense NM_001407684.1:c.4566C>G NP_001394613.1:p.Tyr1522Ter nonsense NM_001407685.1:c.4437C>G NP_001394614.1:p.Tyr1479Ter nonsense NM_001407686.1:c.4437C>G NP_001394615.1:p.Tyr1479Ter nonsense NM_001407687.1:c.4437C>G NP_001394616.1:p.Tyr1479Ter nonsense NM_001407688.1:c.4437C>G NP_001394617.1:p.Tyr1479Ter nonsense NM_001407689.1:c.4437C>G NP_001394618.1:p.Tyr1479Ter nonsense NM_001407690.1:c.4434C>G NP_001394619.1:p.Tyr1478Ter nonsense NM_001407691.1:c.4434C>G NP_001394620.1:p.Tyr1478Ter nonsense NM_001407692.1:c.4425C>G NP_001394621.1:p.Tyr1475Ter nonsense NM_001407694.1:c.4425C>G NP_001394623.1:p.Tyr1475Ter nonsense NM_001407695.1:c.4425C>G NP_001394624.1:p.Tyr1475Ter nonsense NM_001407696.1:c.4425C>G NP_001394625.1:p.Tyr1475Ter nonsense NM_001407697.1:c.4425C>G NP_001394626.1:p.Tyr1475Ter nonsense NM_001407698.1:c.4425C>G NP_001394627.1:p.Tyr1475Ter nonsense NM_001407724.1:c.4425C>G NP_001394653.1:p.Tyr1475Ter nonsense NM_001407725.1:c.4425C>G NP_001394654.1:p.Tyr1475Ter nonsense NM_001407726.1:c.4425C>G NP_001394655.1:p.Tyr1475Ter nonsense NM_001407727.1:c.4425C>G NP_001394656.1:p.Tyr1475Ter nonsense NM_001407728.1:c.4425C>G NP_001394657.1:p.Tyr1475Ter nonsense NM_001407729.1:c.4425C>G NP_001394658.1:p.Tyr1475Ter nonsense NM_001407730.1:c.4425C>G NP_001394659.1:p.Tyr1475Ter nonsense NM_001407731.1:c.4425C>G NP_001394660.1:p.Tyr1475Ter nonsense NM_001407732.1:c.4422C>G NP_001394661.1:p.Tyr1474Ter nonsense NM_001407733.1:c.4422C>G NP_001394662.1:p.Tyr1474Ter nonsense NM_001407734.1:c.4422C>G NP_001394663.1:p.Tyr1474Ter nonsense NM_001407735.1:c.4422C>G NP_001394664.1:p.Tyr1474Ter nonsense NM_001407736.1:c.4422C>G NP_001394665.1:p.Tyr1474Ter nonsense NM_001407737.1:c.4422C>G NP_001394666.1:p.Tyr1474Ter nonsense NM_001407738.1:c.4422C>G NP_001394667.1:p.Tyr1474Ter nonsense NM_001407739.1:c.4422C>G NP_001394668.1:p.Tyr1474Ter nonsense NM_001407740.1:c.4422C>G NP_001394669.1:p.Tyr1474Ter nonsense NM_001407741.1:c.4422C>G NP_001394670.1:p.Tyr1474Ter nonsense NM_001407742.1:c.4422C>G NP_001394671.1:p.Tyr1474Ter nonsense NM_001407743.1:c.4422C>G NP_001394672.1:p.Tyr1474Ter nonsense NM_001407744.1:c.4422C>G NP_001394673.1:p.Tyr1474Ter nonsense NM_001407745.1:c.4422C>G NP_001394674.1:p.Tyr1474Ter nonsense NM_001407746.1:c.4422C>G NP_001394675.1:p.Tyr1474Ter nonsense NM_001407747.1:c.4422C>G NP_001394676.1:p.Tyr1474Ter nonsense NM_001407748.1:c.4422C>G NP_001394677.1:p.Tyr1474Ter nonsense NM_001407749.1:c.4422C>G NP_001394678.1:p.Tyr1474Ter nonsense NM_001407750.1:c.4422C>G NP_001394679.1:p.Tyr1474Ter nonsense NM_001407751.1:c.4422C>G NP_001394680.1:p.Tyr1474Ter nonsense NM_001407752.1:c.4422C>G NP_001394681.1:p.Tyr1474Ter nonsense NM_001407838.1:c.4419C>G NP_001394767.1:p.Tyr1473Ter nonsense NM_001407839.1:c.4419C>G NP_001394768.1:p.Tyr1473Ter nonsense NM_001407841.1:c.4419C>G NP_001394770.1:p.Tyr1473Ter nonsense NM_001407842.1:c.4419C>G NP_001394771.1:p.Tyr1473Ter nonsense NM_001407843.1:c.4419C>G NP_001394772.1:p.Tyr1473Ter nonsense NM_001407844.1:c.4419C>G NP_001394773.1:p.Tyr1473Ter nonsense NM_001407845.1:c.4419C>G NP_001394774.1:p.Tyr1473Ter nonsense NM_001407846.1:c.4419C>G NP_001394775.1:p.Tyr1473Ter nonsense NM_001407847.1:c.4419C>G NP_001394776.1:p.Tyr1473Ter nonsense NM_001407848.1:c.4419C>G NP_001394777.1:p.Tyr1473Ter nonsense NM_001407849.1:c.4419C>G NP_001394778.1:p.Tyr1473Ter nonsense NM_001407850.1:c.4419C>G NP_001394779.1:p.Tyr1473Ter nonsense NM_001407851.1:c.4419C>G NP_001394780.1:p.Tyr1473Ter nonsense NM_001407852.1:c.4419C>G NP_001394781.1:p.Tyr1473Ter nonsense NM_001407853.1:c.4419C>G NP_001394782.1:p.Tyr1473Ter nonsense NM_001407854.1:c.4566C>G NP_001394783.1:p.Tyr1522Ter nonsense NM_001407858.1:c.4563C>G NP_001394787.1:p.Tyr1521Ter nonsense NM_001407859.1:c.4563C>G NP_001394788.1:p.Tyr1521Ter nonsense NM_001407860.1:c.4563C>G NP_001394789.1:p.Tyr1521Ter nonsense NM_001407861.1:c.4560C>G NP_001394790.1:p.Tyr1520Ter nonsense NM_001407862.1:c.4365C>G NP_001394791.1:p.Tyr1455Ter nonsense NM_001407863.1:c.4440C>G NP_001394792.1:p.Tyr1480Ter nonsense NM_001407874.1:c.4359C>G NP_001394803.1:p.Tyr1453Ter nonsense NM_001407875.1:c.4359C>G NP_001394804.1:p.Tyr1453Ter nonsense NM_001407879.1:c.4356C>G NP_001394808.1:p.Tyr1452Ter nonsense NM_001407881.1:c.4356C>G NP_001394810.1:p.Tyr1452Ter nonsense NM_001407882.1:c.4356C>G NP_001394811.1:p.Tyr1452Ter nonsense NM_001407884.1:c.4356C>G NP_001394813.1:p.Tyr1452Ter nonsense NM_001407885.1:c.4356C>G NP_001394814.1:p.Tyr1452Ter nonsense NM_001407886.1:c.4356C>G NP_001394815.1:p.Tyr1452Ter nonsense NM_001407887.1:c.4356C>G NP_001394816.1:p.Tyr1452Ter nonsense NM_001407889.1:c.4356C>G NP_001394818.1:p.Tyr1452Ter nonsense NM_001407894.1:c.4353C>G NP_001394823.1:p.Tyr1451Ter nonsense NM_001407895.1:c.4353C>G NP_001394824.1:p.Tyr1451Ter nonsense NM_001407896.1:c.4353C>G NP_001394825.1:p.Tyr1451Ter nonsense NM_001407897.1:c.4353C>G NP_001394826.1:p.Tyr1451Ter nonsense NM_001407898.1:c.4353C>G NP_001394827.1:p.Tyr1451Ter nonsense NM_001407899.1:c.4353C>G NP_001394828.1:p.Tyr1451Ter nonsense NM_001407900.1:c.4353C>G NP_001394829.1:p.Tyr1451Ter nonsense NM_001407902.1:c.4353C>G NP_001394831.1:p.Tyr1451Ter nonsense NM_001407904.1:c.4353C>G NP_001394833.1:p.Tyr1451Ter nonsense NM_001407906.1:c.4353C>G NP_001394835.1:p.Tyr1451Ter nonsense NM_001407907.1:c.4353C>G NP_001394836.1:p.Tyr1451Ter nonsense NM_001407908.1:c.4353C>G NP_001394837.1:p.Tyr1451Ter nonsense NM_001407909.1:c.4353C>G NP_001394838.1:p.Tyr1451Ter nonsense NM_001407910.1:c.4353C>G NP_001394839.1:p.Tyr1451Ter nonsense NM_001407915.1:c.4350C>G NP_001394844.1:p.Tyr1450Ter nonsense NM_001407916.1:c.4350C>G NP_001394845.1:p.Tyr1450Ter nonsense NM_001407917.1:c.4350C>G NP_001394846.1:p.Tyr1450Ter nonsense NM_001407918.1:c.4350C>G NP_001394847.1:p.Tyr1450Ter nonsense NM_001407919.1:c.4443C>G NP_001394848.1:p.Tyr1481Ter nonsense NM_001407920.1:c.4302C>G NP_001394849.1:p.Tyr1434Ter nonsense NM_001407921.1:c.4302C>G NP_001394850.1:p.Tyr1434Ter nonsense NM_001407922.1:c.4302C>G NP_001394851.1:p.Tyr1434Ter nonsense NM_001407923.1:c.4302C>G NP_001394852.1:p.Tyr1434Ter nonsense NM_001407924.1:c.4302C>G NP_001394853.1:p.Tyr1434Ter nonsense NM_001407925.1:c.4302C>G NP_001394854.1:p.Tyr1434Ter nonsense NM_001407926.1:c.4302C>G NP_001394855.1:p.Tyr1434Ter nonsense NM_001407927.1:c.4299C>G NP_001394856.1:p.Tyr1433Ter nonsense NM_001407928.1:c.4299C>G NP_001394857.1:p.Tyr1433Ter nonsense NM_001407929.1:c.4299C>G NP_001394858.1:p.Tyr1433Ter nonsense NM_001407930.1:c.4299C>G NP_001394859.1:p.Tyr1433Ter nonsense NM_001407931.1:c.4299C>G NP_001394860.1:p.Tyr1433Ter nonsense NM_001407932.1:c.4299C>G NP_001394861.1:p.Tyr1433Ter nonsense NM_001407933.1:c.4299C>G NP_001394862.1:p.Tyr1433Ter nonsense NM_001407934.1:c.4296C>G NP_001394863.1:p.Tyr1432Ter nonsense NM_001407935.1:c.4296C>G NP_001394864.1:p.Tyr1432Ter nonsense NM_001407936.1:c.4296C>G NP_001394865.1:p.Tyr1432Ter nonsense NM_001407937.1:c.4443C>G NP_001394866.1:p.Tyr1481Ter nonsense NM_001407938.1:c.4443C>G NP_001394867.1:p.Tyr1481Ter nonsense NM_001407939.1:c.4440C>G NP_001394868.1:p.Tyr1480Ter nonsense NM_001407940.1:c.4440C>G NP_001394869.1:p.Tyr1480Ter nonsense NM_001407941.1:c.4437C>G NP_001394870.1:p.Tyr1479Ter nonsense NM_001407942.1:c.4425C>G NP_001394871.1:p.Tyr1475Ter nonsense NM_001407943.1:c.4422C>G NP_001394872.1:p.Tyr1474Ter nonsense NM_001407944.1:c.4422C>G NP_001394873.1:p.Tyr1474Ter nonsense NM_001407945.1:c.4422C>G NP_001394874.1:p.Tyr1474Ter nonsense NM_001407946.1:c.4233C>G NP_001394875.1:p.Tyr1411Ter nonsense NM_001407947.1:c.4233C>G NP_001394876.1:p.Tyr1411Ter nonsense NM_001407948.1:c.4233C>G NP_001394877.1:p.Tyr1411Ter nonsense NM_001407949.1:c.4233C>G NP_001394878.1:p.Tyr1411Ter nonsense NM_001407950.1:c.4230C>G NP_001394879.1:p.Tyr1410Ter nonsense NM_001407951.1:c.4230C>G NP_001394880.1:p.Tyr1410Ter nonsense NM_001407952.1:c.4230C>G NP_001394881.1:p.Tyr1410Ter nonsense NM_001407953.1:c.4230C>G NP_001394882.1:p.Tyr1410Ter nonsense NM_001407954.1:c.4230C>G NP_001394883.1:p.Tyr1410Ter nonsense NM_001407955.1:c.4230C>G NP_001394884.1:p.Tyr1410Ter nonsense NM_001407956.1:c.4227C>G NP_001394885.1:p.Tyr1409Ter nonsense NM_001407957.1:c.4227C>G NP_001394886.1:p.Tyr1409Ter nonsense NM_001407958.1:c.4227C>G NP_001394887.1:p.Tyr1409Ter nonsense NM_001407959.1:c.4185C>G NP_001394888.1:p.Tyr1395Ter nonsense NM_001407960.1:c.4182C>G NP_001394889.1:p.Tyr1394Ter nonsense NM_001407962.1:c.4182C>G NP_001394891.1:p.Tyr1394Ter nonsense NM_001407963.1:c.4179C>G NP_001394892.1:p.Tyr1393Ter nonsense NM_001407965.1:c.4059C>G NP_001394894.1:p.Tyr1353Ter nonsense NM_001407966.1:c.3678C>G NP_001394895.1:p.Tyr1226Ter nonsense NM_001407967.1:c.3675C>G NP_001394896.1:p.Tyr1225Ter nonsense NM_001407968.1:c.1962C>G NP_001394897.1:p.Tyr654Ter nonsense NM_001407969.1:c.1959C>G NP_001394898.1:p.Tyr653Ter nonsense NM_001407970.1:c.1323C>G NP_001394899.1:p.Tyr441Ter nonsense NM_001407971.1:c.1323C>G NP_001394900.1:p.Tyr441Ter nonsense NM_001407972.1:c.1320C>G NP_001394901.1:p.Tyr440Ter nonsense NM_001407973.1:c.1257C>G NP_001394902.1:p.Tyr419Ter nonsense NM_001407974.1:c.1257C>G NP_001394903.1:p.Tyr419Ter nonsense NM_001407975.1:c.1257C>G NP_001394904.1:p.Tyr419Ter nonsense NM_001407976.1:c.1257C>G NP_001394905.1:p.Tyr419Ter nonsense NM_001407977.1:c.1257C>G NP_001394906.1:p.Tyr419Ter nonsense NM_001407978.1:c.1257C>G NP_001394907.1:p.Tyr419Ter nonsense NM_001407979.1:c.1254C>G NP_001394908.1:p.Tyr418Ter nonsense NM_001407980.1:c.1254C>G NP_001394909.1:p.Tyr418Ter nonsense NM_001407981.1:c.1254C>G NP_001394910.1:p.Tyr418Ter nonsense NM_001407982.1:c.1254C>G NP_001394911.1:p.Tyr418Ter nonsense NM_001407983.1:c.1254C>G NP_001394912.1:p.Tyr418Ter nonsense NM_001407984.1:c.1254C>G NP_001394913.1:p.Tyr418Ter nonsense NM_001407985.1:c.1254C>G NP_001394914.1:p.Tyr418Ter nonsense NM_001407986.1:c.1254C>G NP_001394915.1:p.Tyr418Ter nonsense NM_001407990.1:c.1254C>G NP_001394919.1:p.Tyr418Ter nonsense NM_001407991.1:c.1254C>G NP_001394920.1:p.Tyr418Ter nonsense NM_001407992.1:c.1254C>G NP_001394921.1:p.Tyr418Ter nonsense NM_001407993.1:c.1254C>G NP_001394922.1:p.Tyr418Ter nonsense NM_001408392.1:c.1251C>G NP_001395321.1:p.Tyr417Ter nonsense NM_001408396.1:c.1251C>G NP_001395325.1:p.Tyr417Ter nonsense NM_001408397.1:c.1251C>G NP_001395326.1:p.Tyr417Ter nonsense NM_001408398.1:c.1251C>G NP_001395327.1:p.Tyr417Ter nonsense NM_001408399.1:c.1251C>G NP_001395328.1:p.Tyr417Ter nonsense NM_001408400.1:c.1251C>G NP_001395329.1:p.Tyr417Ter nonsense NM_001408401.1:c.1251C>G NP_001395330.1:p.Tyr417Ter nonsense NM_001408402.1:c.1251C>G NP_001395331.1:p.Tyr417Ter nonsense NM_001408403.1:c.1251C>G NP_001395332.1:p.Tyr417Ter nonsense NM_001408404.1:c.1251C>G NP_001395333.1:p.Tyr417Ter nonsense NM_001408406.1:c.1248C>G NP_001395335.1:p.Tyr416Ter nonsense NM_001408407.1:c.1248C>G NP_001395336.1:p.Tyr416Ter nonsense NM_001408408.1:c.1248C>G NP_001395337.1:p.Tyr416Ter nonsense NM_001408409.1:c.1245C>G NP_001395338.1:p.Tyr415Ter nonsense NM_001408410.1:c.1182C>G NP_001395339.1:p.Tyr394Ter nonsense NM_001408411.1:c.1179C>G NP_001395340.1:p.Tyr393Ter nonsense NM_001408412.1:c.1176C>G NP_001395341.1:p.Tyr392Ter nonsense NM_001408413.1:c.1176C>G NP_001395342.1:p.Tyr392Ter nonsense NM_001408414.1:c.1176C>G NP_001395343.1:p.Tyr392Ter nonsense NM_001408415.1:c.1176C>G NP_001395344.1:p.Tyr392Ter nonsense NM_001408416.1:c.1176C>G NP_001395345.1:p.Tyr392Ter nonsense NM_001408418.1:c.1140C>G NP_001395347.1:p.Tyr380Ter nonsense NM_001408419.1:c.1140C>G NP_001395348.1:p.Tyr380Ter nonsense NM_001408420.1:c.1140C>G NP_001395349.1:p.Tyr380Ter nonsense NM_001408421.1:c.1137C>G NP_001395350.1:p.Tyr379Ter nonsense NM_001408422.1:c.1137C>G NP_001395351.1:p.Tyr379Ter nonsense NM_001408423.1:c.1137C>G NP_001395352.1:p.Tyr379Ter nonsense NM_001408424.1:c.1137C>G NP_001395353.1:p.Tyr379Ter nonsense NM_001408425.1:c.1134C>G NP_001395354.1:p.Tyr378Ter nonsense NM_001408426.1:c.1134C>G NP_001395355.1:p.Tyr378Ter nonsense NM_001408427.1:c.1134C>G NP_001395356.1:p.Tyr378Ter nonsense NM_001408428.1:c.1134C>G NP_001395357.1:p.Tyr378Ter nonsense NM_001408429.1:c.1134C>G NP_001395358.1:p.Tyr378Ter nonsense NM_001408430.1:c.1134C>G NP_001395359.1:p.Tyr378Ter nonsense NM_001408431.1:c.1134C>G NP_001395360.1:p.Tyr378Ter nonsense NM_001408432.1:c.1131C>G NP_001395361.1:p.Tyr377Ter nonsense NM_001408433.1:c.1131C>G NP_001395362.1:p.Tyr377Ter nonsense NM_001408434.1:c.1131C>G NP_001395363.1:p.Tyr377Ter nonsense NM_001408435.1:c.1131C>G NP_001395364.1:p.Tyr377Ter nonsense NM_001408436.1:c.1131C>G NP_001395365.1:p.Tyr377Ter nonsense NM_001408437.1:c.1131C>G NP_001395366.1:p.Tyr377Ter nonsense NM_001408438.1:c.1131C>G NP_001395367.1:p.Tyr377Ter nonsense NM_001408439.1:c.1131C>G NP_001395368.1:p.Tyr377Ter nonsense NM_001408440.1:c.1131C>G NP_001395369.1:p.Tyr377Ter nonsense NM_001408441.1:c.1131C>G NP_001395370.1:p.Tyr377Ter nonsense NM_001408442.1:c.1131C>G NP_001395371.1:p.Tyr377Ter nonsense NM_001408443.1:c.1131C>G NP_001395372.1:p.Tyr377Ter nonsense NM_001408444.1:c.1131C>G NP_001395373.1:p.Tyr377Ter nonsense NM_001408445.1:c.1128C>G NP_001395374.1:p.Tyr376Ter nonsense NM_001408446.1:c.1128C>G NP_001395375.1:p.Tyr376Ter nonsense NM_001408447.1:c.1128C>G NP_001395376.1:p.Tyr376Ter nonsense NM_001408448.1:c.1128C>G NP_001395377.1:p.Tyr376Ter nonsense NM_001408450.1:c.1128C>G NP_001395379.1:p.Tyr376Ter nonsense NM_001408451.1:c.1122C>G NP_001395380.1:p.Tyr374Ter nonsense NM_001408452.1:c.1116C>G NP_001395381.1:p.Tyr372Ter nonsense NM_001408453.1:c.1116C>G NP_001395382.1:p.Tyr372Ter nonsense NM_001408454.1:c.1116C>G NP_001395383.1:p.Tyr372Ter nonsense NM_001408455.1:c.1116C>G NP_001395384.1:p.Tyr372Ter nonsense NM_001408456.1:c.1116C>G NP_001395385.1:p.Tyr372Ter nonsense NM_001408457.1:c.1116C>G NP_001395386.1:p.Tyr372Ter nonsense NM_001408458.1:c.1113C>G NP_001395387.1:p.Tyr371Ter nonsense NM_001408459.1:c.1113C>G NP_001395388.1:p.Tyr371Ter nonsense NM_001408460.1:c.1113C>G NP_001395389.1:p.Tyr371Ter nonsense NM_001408461.1:c.1113C>G NP_001395390.1:p.Tyr371Ter nonsense NM_001408462.1:c.1113C>G NP_001395391.1:p.Tyr371Ter nonsense NM_001408463.1:c.1113C>G NP_001395392.1:p.Tyr371Ter nonsense NM_001408464.1:c.1113C>G NP_001395393.1:p.Tyr371Ter nonsense NM_001408465.1:c.1113C>G NP_001395394.1:p.Tyr371Ter nonsense NM_001408466.1:c.1113C>G NP_001395395.1:p.Tyr371Ter nonsense NM_001408467.1:c.1113C>G NP_001395396.1:p.Tyr371Ter nonsense NM_001408468.1:c.1110C>G NP_001395397.1:p.Tyr370Ter nonsense NM_001408469.1:c.1110C>G NP_001395398.1:p.Tyr370Ter nonsense NM_001408470.1:c.1110C>G NP_001395399.1:p.Tyr370Ter nonsense NM_001408472.1:c.1254C>G NP_001395401.1:p.Tyr418Ter nonsense NM_001408473.1:c.1251C>G NP_001395402.1:p.Tyr417Ter nonsense NM_001408474.1:c.1056C>G NP_001395403.1:p.Tyr352Ter nonsense NM_001408475.1:c.1053C>G NP_001395404.1:p.Tyr351Ter nonsense NM_001408476.1:c.1053C>G NP_001395405.1:p.Tyr351Ter nonsense NM_001408478.1:c.1047C>G NP_001395407.1:p.Tyr349Ter nonsense NM_001408479.1:c.1047C>G NP_001395408.1:p.Tyr349Ter nonsense NM_001408480.1:c.1047C>G NP_001395409.1:p.Tyr349Ter nonsense NM_001408481.1:c.1044C>G NP_001395410.1:p.Tyr348Ter nonsense NM_001408482.1:c.1044C>G NP_001395411.1:p.Tyr348Ter nonsense NM_001408483.1:c.1044C>G NP_001395412.1:p.Tyr348Ter nonsense NM_001408484.1:c.1044C>G NP_001395413.1:p.Tyr348Ter nonsense NM_001408485.1:c.1044C>G NP_001395414.1:p.Tyr348Ter nonsense NM_001408489.1:c.1044C>G NP_001395418.1:p.Tyr348Ter nonsense NM_001408490.1:c.1044C>G NP_001395419.1:p.Tyr348Ter nonsense NM_001408491.1:c.1044C>G NP_001395420.1:p.Tyr348Ter nonsense NM_001408492.1:c.1041C>G NP_001395421.1:p.Tyr347Ter nonsense NM_001408493.1:c.1041C>G NP_001395422.1:p.Tyr347Ter nonsense NM_001408494.1:c.1017C>G NP_001395423.1:p.Tyr339Ter nonsense NM_001408495.1:c.1011C>G NP_001395424.1:p.Tyr337Ter nonsense NM_001408496.1:c.993C>G NP_001395425.1:p.Tyr331Ter nonsense NM_001408497.1:c.993C>G NP_001395426.1:p.Tyr331Ter nonsense NM_001408498.1:c.993C>G NP_001395427.1:p.Tyr331Ter nonsense NM_001408499.1:c.993C>G NP_001395428.1:p.Tyr331Ter nonsense NM_001408500.1:c.993C>G NP_001395429.1:p.Tyr331Ter nonsense NM_001408501.1:c.993C>G NP_001395430.1:p.Tyr331Ter nonsense NM_001408502.1:c.990C>G NP_001395431.1:p.Tyr330Ter nonsense NM_001408503.1:c.990C>G NP_001395432.1:p.Tyr330Ter nonsense NM_001408504.1:c.990C>G NP_001395433.1:p.Tyr330Ter nonsense NM_001408505.1:c.987C>G NP_001395434.1:p.Tyr329Ter nonsense NM_001408506.1:c.930C>G NP_001395435.1:p.Tyr310Ter nonsense NM_001408507.1:c.927C>G NP_001395436.1:p.Tyr309Ter nonsense NM_001408508.1:c.918C>G NP_001395437.1:p.Tyr306Ter nonsense NM_001408509.1:c.915C>G NP_001395438.1:p.Tyr305Ter nonsense NM_001408510.1:c.876C>G NP_001395439.1:p.Tyr292Ter nonsense NM_001408511.1:c.873C>G NP_001395440.1:p.Tyr291Ter nonsense NM_001408512.1:c.753C>G NP_001395441.1:p.Tyr251Ter nonsense NM_007297.4:c.4425C>G NP_009228.2:p.Tyr1475Ter nonsense NM_007298.4:c.1254C>G NP_009229.2:p.Tyr418Ter nonsense NM_007299.4:c.1254C>G NP_009230.2:p.Tyr418Ter nonsense NM_007300.3:c.4629C>G NM_007300.4:c.4629C>G NP_009231.2:p.Tyr1543Ter nonsense NM_007304.2:c.1254C>G NP_009235.2:p.Tyr418Ter nonsense NR_027676.2:n.4743C>G non-coding transcript variant NC_000017.11:g.43074440G>C NC_000017.10:g.41226457G>C NG_005905.2:g.143544C>G LRG_292:g.143544C>G LRG_292t1:c.4566C>G LRG_292p1:p.Tyr1522Ter - Protein change
- Y1522*, Y418*, Y1475*, Y1543*, Y1226*, Y1393*, Y1409*, Y1411*, Y1450*, Y1473*, Y1474*, Y1478*, Y1503*, Y306*, Y329*, Y372*, Y376*, Y378*, Y394*, Y416*, Y419*, Y441*, Y1432*, Y1452*, Y1453*, Y1455*, Y1479*, Y1502*, Y1517*, Y1544*, Y291*, Y292*, Y310*, Y331*, Y339*, Y348*, Y351*, Y379*, Y417*, Y1225*, Y1353*, Y1394*, Y1395*, Y1451*, Y1481*, Y1494*, Y1496*, Y1520*, Y1521*, Y1542*, Y251*, Y337*, Y347*, Y349*, Y352*, Y370*, Y377*, Y653*, Y1410*, Y1433*, Y1434*, Y1480*, Y1495*, Y1518*, Y1519*, Y305*, Y309*, Y330*, Y371*, Y374*, Y380*, Y392*, Y393*, Y415*, Y440*, Y654*
- Other names
- 4685C>G
- Canonical SPDI
- NC_000017.11:43074439: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 |
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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 (3) |
reviewed by expert panel
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Oct 18, 2016 | RCV000256534.7 |
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
(Oct 18, 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: SCV000323775.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
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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: SCV000325996.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
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Pathogenic
(May 01, 2023)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
Accession: SCV003920901.1
First in ClinVar: May 06, 2023 Last updated: May 06, 2023 |
Comment:
A known pathogenic variant was detected in the BRCA1 gene (p.Tyr1543Ter). This sequence change creates a premature translational stop signal (p.Tyr1543Ter) in the BRCA1 gene. … (more)
A known pathogenic variant was detected in the BRCA1 gene (p.Tyr1543Ter). This sequence change creates a premature translational stop signal (p.Tyr1543Ter) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD). ClinVar contains an entry for this variant (Variation ID: 266481) with 2 submissions describing this variant as pathogenic, 3 stars, no conflict, and reviewed by expert panel. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). Therefore, this variant has been classified as Pathogenic. This variant was confirmed by Sanger sequencing . (less)
Age: 50-59 years
Sex: female
|
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
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs886040234 ...
HelpRecord last updated Mar 30, 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.