Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4243G>T (p.Glu1415Ter)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Dec 2017 by
Evidence-based…
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4243G>T (p.Glu1415Ter)
Variation ID: 375546 Accession: VCV000375546.3
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43082518 (GRCh38) [ NCBI UCSC ] 17: 41234535 (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 Feb 12, 2017 Jul 13, 2018 Dec 15, 2017 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4243G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu1415Ter nonsense NM_001407571.1:c.4030G>T NP_001394500.1:p.Glu1344Ter nonsense NM_001407581.1:c.4243G>T NP_001394510.1:p.Glu1415Ter nonsense NM_001407582.1:c.4243G>T NP_001394511.1:p.Glu1415Ter nonsense NM_001407583.1:c.4243G>T NP_001394512.1:p.Glu1415Ter nonsense NM_001407585.1:c.4243G>T NP_001394514.1:p.Glu1415Ter nonsense NM_001407587.1:c.4240G>T NP_001394516.1:p.Glu1414Ter nonsense NM_001407590.1:c.4240G>T NP_001394519.1:p.Glu1414Ter nonsense NM_001407591.1:c.4240G>T NP_001394520.1:p.Glu1414Ter nonsense NM_001407593.1:c.4243G>T NP_001394522.1:p.Glu1415Ter nonsense NM_001407594.1:c.4243G>T NP_001394523.1:p.Glu1415Ter nonsense NM_001407596.1:c.4243G>T NP_001394525.1:p.Glu1415Ter nonsense NM_001407597.1:c.4243G>T NP_001394526.1:p.Glu1415Ter nonsense NM_001407598.1:c.4243G>T NP_001394527.1:p.Glu1415Ter nonsense NM_001407602.1:c.4243G>T NP_001394531.1:p.Glu1415Ter nonsense NM_001407603.1:c.4243G>T NP_001394532.1:p.Glu1415Ter nonsense NM_001407605.1:c.4243G>T NP_001394534.1:p.Glu1415Ter nonsense NM_001407610.1:c.4240G>T NP_001394539.1:p.Glu1414Ter nonsense NM_001407611.1:c.4240G>T NP_001394540.1:p.Glu1414Ter nonsense NM_001407612.1:c.4240G>T NP_001394541.1:p.Glu1414Ter nonsense NM_001407613.1:c.4240G>T NP_001394542.1:p.Glu1414Ter nonsense NM_001407614.1:c.4240G>T NP_001394543.1:p.Glu1414Ter nonsense NM_001407615.1:c.4240G>T NP_001394544.1:p.Glu1414Ter nonsense NM_001407616.1:c.4243G>T NP_001394545.1:p.Glu1415Ter nonsense NM_001407617.1:c.4243G>T NP_001394546.1:p.Glu1415Ter nonsense NM_001407618.1:c.4243G>T NP_001394547.1:p.Glu1415Ter nonsense NM_001407619.1:c.4243G>T NP_001394548.1:p.Glu1415Ter nonsense NM_001407620.1:c.4243G>T NP_001394549.1:p.Glu1415Ter nonsense NM_001407621.1:c.4243G>T NP_001394550.1:p.Glu1415Ter nonsense NM_001407622.1:c.4243G>T NP_001394551.1:p.Glu1415Ter nonsense NM_001407623.1:c.4243G>T NP_001394552.1:p.Glu1415Ter nonsense NM_001407624.1:c.4240G>T NP_001394553.1:p.Glu1414Ter nonsense NM_001407625.1:c.4240G>T NP_001394554.1:p.Glu1414Ter nonsense NM_001407626.1:c.4240G>T NP_001394555.1:p.Glu1414Ter nonsense NM_001407627.1:c.4237G>T NP_001394556.1:p.Glu1413Ter nonsense NM_001407628.1:c.4237G>T NP_001394557.1:p.Glu1413Ter nonsense NM_001407629.1:c.4237G>T NP_001394558.1:p.Glu1413Ter nonsense NM_001407630.1:c.4237G>T NP_001394559.1:p.Glu1413Ter nonsense NM_001407631.1:c.4237G>T NP_001394560.1:p.Glu1413Ter nonsense NM_001407632.1:c.4237G>T NP_001394561.1:p.Glu1413Ter nonsense NM_001407633.1:c.4240G>T NP_001394562.1:p.Glu1414Ter nonsense NM_001407634.1:c.4240G>T NP_001394563.1:p.Glu1414Ter nonsense NM_001407635.1:c.4240G>T NP_001394564.1:p.Glu1414Ter nonsense NM_001407636.1:c.4240G>T NP_001394565.1:p.Glu1414Ter nonsense NM_001407637.1:c.4240G>T NP_001394566.1:p.Glu1414Ter nonsense NM_001407638.1:c.4240G>T NP_001394567.1:p.Glu1414Ter nonsense NM_001407639.1:c.4240G>T NP_001394568.1:p.Glu1414Ter nonsense NM_001407640.1:c.4240G>T NP_001394569.1:p.Glu1414Ter nonsense NM_001407641.1:c.4240G>T NP_001394570.1:p.Glu1414Ter nonsense NM_001407642.1:c.4240G>T NP_001394571.1:p.Glu1414Ter nonsense NM_001407644.1:c.4237G>T NP_001394573.1:p.Glu1413Ter nonsense NM_001407645.1:c.4237G>T NP_001394574.1:p.Glu1413Ter nonsense NM_001407646.1:c.4231G>T NP_001394575.1:p.Glu1411Ter nonsense NM_001407647.1:c.4231G>T NP_001394576.1:p.Glu1411Ter nonsense NM_001407648.1:c.4120G>T NP_001394577.1:p.Glu1374Ter nonsense NM_001407649.1:c.4117G>T NP_001394578.1:p.Glu1373Ter nonsense NM_001407652.1:c.4243G>T NP_001394581.1:p.Glu1415Ter nonsense NM_001407653.1:c.4165G>T NP_001394582.1:p.Glu1389Ter nonsense NM_001407654.1:c.4165G>T NP_001394583.1:p.Glu1389Ter nonsense NM_001407655.1:c.4165G>T NP_001394584.1:p.Glu1389Ter nonsense NM_001407656.1:c.4162G>T NP_001394585.1:p.Glu1388Ter nonsense NM_001407657.1:c.4165G>T NP_001394586.1:p.Glu1389Ter nonsense NM_001407658.1:c.4165G>T NP_001394587.1:p.Glu1389Ter nonsense NM_001407659.1:c.4159G>T NP_001394588.1:p.Glu1387Ter nonsense NM_001407660.1:c.4159G>T NP_001394589.1:p.Glu1387Ter nonsense NM_001407661.1:c.4162G>T NP_001394590.1:p.Glu1388Ter nonsense NM_001407662.1:c.4162G>T NP_001394591.1:p.Glu1388Ter nonsense NM_001407663.1:c.4162G>T NP_001394592.1:p.Glu1388Ter nonsense NM_001407664.1:c.4120G>T NP_001394593.1:p.Glu1374Ter nonsense NM_001407665.1:c.4120G>T NP_001394594.1:p.Glu1374Ter nonsense NM_001407666.1:c.4120G>T NP_001394595.1:p.Glu1374Ter nonsense NM_001407667.1:c.4120G>T NP_001394596.1:p.Glu1374Ter nonsense NM_001407668.1:c.4120G>T NP_001394597.1:p.Glu1374Ter nonsense NM_001407669.1:c.4120G>T NP_001394598.1:p.Glu1374Ter nonsense NM_001407670.1:c.4117G>T NP_001394599.1:p.Glu1373Ter nonsense NM_001407671.1:c.4117G>T NP_001394600.1:p.Glu1373Ter nonsense NM_001407672.1:c.4117G>T NP_001394601.1:p.Glu1373Ter nonsense NM_001407673.1:c.4117G>T NP_001394602.1:p.Glu1373Ter nonsense NM_001407674.1:c.4117G>T NP_001394603.1:p.Glu1373Ter nonsense NM_001407675.1:c.4117G>T NP_001394604.1:p.Glu1373Ter nonsense NM_001407676.1:c.4117G>T NP_001394605.1:p.Glu1373Ter nonsense NM_001407677.1:c.4120G>T NP_001394606.1:p.Glu1374Ter nonsense NM_001407678.1:c.4120G>T NP_001394607.1:p.Glu1374Ter nonsense NM_001407679.1:c.4120G>T NP_001394608.1:p.Glu1374Ter nonsense NM_001407680.1:c.4120G>T NP_001394609.1:p.Glu1374Ter nonsense NM_001407681.1:c.4117G>T NP_001394610.1:p.Glu1373Ter nonsense NM_001407682.1:c.4117G>T NP_001394611.1:p.Glu1373Ter nonsense NM_001407683.1:c.4117G>T NP_001394612.1:p.Glu1373Ter nonsense NM_001407684.1:c.4243G>T NP_001394613.1:p.Glu1415Ter nonsense NM_001407685.1:c.4114G>T NP_001394614.1:p.Glu1372Ter nonsense NM_001407686.1:c.4114G>T NP_001394615.1:p.Glu1372Ter nonsense NM_001407687.1:c.4114G>T NP_001394616.1:p.Glu1372Ter nonsense NM_001407688.1:c.4117G>T NP_001394617.1:p.Glu1373Ter nonsense NM_001407689.1:c.4117G>T NP_001394618.1:p.Glu1373Ter nonsense NM_001407690.1:c.4114G>T NP_001394619.1:p.Glu1372Ter nonsense NM_001407691.1:c.4114G>T NP_001394620.1:p.Glu1372Ter nonsense NM_001407692.1:c.4102G>T NP_001394621.1:p.Glu1368Ter nonsense NM_001407694.1:c.4102G>T NP_001394623.1:p.Glu1368Ter nonsense NM_001407695.1:c.4102G>T NP_001394624.1:p.Glu1368Ter nonsense NM_001407696.1:c.4102G>T NP_001394625.1:p.Glu1368Ter nonsense NM_001407697.1:c.4102G>T NP_001394626.1:p.Glu1368Ter nonsense NM_001407698.1:c.4102G>T NP_001394627.1:p.Glu1368Ter nonsense NM_001407724.1:c.4102G>T NP_001394653.1:p.Glu1368Ter nonsense NM_001407725.1:c.4102G>T NP_001394654.1:p.Glu1368Ter nonsense NM_001407726.1:c.4102G>T NP_001394655.1:p.Glu1368Ter nonsense NM_001407727.1:c.4102G>T NP_001394656.1:p.Glu1368Ter nonsense NM_001407728.1:c.4102G>T NP_001394657.1:p.Glu1368Ter nonsense NM_001407729.1:c.4102G>T NP_001394658.1:p.Glu1368Ter nonsense NM_001407730.1:c.4102G>T NP_001394659.1:p.Glu1368Ter nonsense NM_001407731.1:c.4102G>T NP_001394660.1:p.Glu1368Ter nonsense NM_001407732.1:c.4102G>T NP_001394661.1:p.Glu1368Ter nonsense NM_001407733.1:c.4102G>T NP_001394662.1:p.Glu1368Ter nonsense NM_001407734.1:c.4102G>T NP_001394663.1:p.Glu1368Ter nonsense NM_001407735.1:c.4102G>T NP_001394664.1:p.Glu1368Ter nonsense NM_001407736.1:c.4102G>T NP_001394665.1:p.Glu1368Ter nonsense NM_001407737.1:c.4102G>T NP_001394666.1:p.Glu1368Ter nonsense NM_001407738.1:c.4102G>T NP_001394667.1:p.Glu1368Ter nonsense NM_001407739.1:c.4102G>T NP_001394668.1:p.Glu1368Ter nonsense NM_001407740.1:c.4099G>T NP_001394669.1:p.Glu1367Ter nonsense NM_001407741.1:c.4099G>T NP_001394670.1:p.Glu1367Ter nonsense NM_001407742.1:c.4099G>T NP_001394671.1:p.Glu1367Ter nonsense NM_001407743.1:c.4099G>T NP_001394672.1:p.Glu1367Ter nonsense NM_001407744.1:c.4099G>T NP_001394673.1:p.Glu1367Ter nonsense NM_001407745.1:c.4099G>T NP_001394674.1:p.Glu1367Ter nonsense NM_001407746.1:c.4099G>T NP_001394675.1:p.Glu1367Ter nonsense NM_001407747.1:c.4099G>T NP_001394676.1:p.Glu1367Ter nonsense NM_001407748.1:c.4099G>T NP_001394677.1:p.Glu1367Ter nonsense NM_001407749.1:c.4099G>T NP_001394678.1:p.Glu1367Ter nonsense NM_001407750.1:c.4099G>T NP_001394679.1:p.Glu1367Ter nonsense NM_001407751.1:c.4099G>T NP_001394680.1:p.Glu1367Ter nonsense NM_001407752.1:c.4099G>T NP_001394681.1:p.Glu1367Ter nonsense NM_001407838.1:c.4099G>T NP_001394767.1:p.Glu1367Ter nonsense NM_001407839.1:c.4099G>T NP_001394768.1:p.Glu1367Ter nonsense NM_001407841.1:c.4099G>T NP_001394770.1:p.Glu1367Ter nonsense NM_001407842.1:c.4099G>T NP_001394771.1:p.Glu1367Ter nonsense NM_001407843.1:c.4099G>T NP_001394772.1:p.Glu1367Ter nonsense NM_001407844.1:c.4099G>T NP_001394773.1:p.Glu1367Ter nonsense NM_001407845.1:c.4099G>T NP_001394774.1:p.Glu1367Ter nonsense NM_001407846.1:c.4099G>T NP_001394775.1:p.Glu1367Ter nonsense NM_001407847.1:c.4096G>T NP_001394776.1:p.Glu1366Ter nonsense NM_001407848.1:c.4096G>T NP_001394777.1:p.Glu1366Ter nonsense NM_001407849.1:c.4096G>T NP_001394778.1:p.Glu1366Ter nonsense NM_001407850.1:c.4099G>T NP_001394779.1:p.Glu1367Ter nonsense NM_001407851.1:c.4099G>T NP_001394780.1:p.Glu1367Ter nonsense NM_001407852.1:c.4099G>T NP_001394781.1:p.Glu1367Ter nonsense NM_001407853.1:c.4030G>T NP_001394782.1:p.Glu1344Ter nonsense NM_001407854.1:c.4243G>T NP_001394783.1:p.Glu1415Ter nonsense NM_001407858.1:c.4243G>T NP_001394787.1:p.Glu1415Ter nonsense NM_001407859.1:c.4243G>T NP_001394788.1:p.Glu1415Ter nonsense NM_001407860.1:c.4240G>T NP_001394789.1:p.Glu1414Ter nonsense NM_001407861.1:c.4240G>T NP_001394790.1:p.Glu1414Ter nonsense NM_001407862.1:c.4042G>T NP_001394791.1:p.Glu1348Ter nonsense NM_001407863.1:c.4120G>T NP_001394792.1:p.Glu1374Ter nonsense NM_001407874.1:c.4039G>T NP_001394803.1:p.Glu1347Ter nonsense NM_001407875.1:c.4039G>T NP_001394804.1:p.Glu1347Ter nonsense NM_001407879.1:c.4033G>T NP_001394808.1:p.Glu1345Ter nonsense NM_001407881.1:c.4033G>T NP_001394810.1:p.Glu1345Ter nonsense NM_001407882.1:c.4033G>T NP_001394811.1:p.Glu1345Ter nonsense NM_001407884.1:c.4033G>T NP_001394813.1:p.Glu1345Ter nonsense NM_001407885.1:c.4033G>T NP_001394814.1:p.Glu1345Ter nonsense NM_001407886.1:c.4033G>T NP_001394815.1:p.Glu1345Ter nonsense NM_001407887.1:c.4033G>T NP_001394816.1:p.Glu1345Ter nonsense NM_001407889.1:c.4033G>T NP_001394818.1:p.Glu1345Ter nonsense NM_001407894.1:c.4030G>T NP_001394823.1:p.Glu1344Ter nonsense NM_001407895.1:c.4030G>T NP_001394824.1:p.Glu1344Ter nonsense NM_001407896.1:c.4030G>T NP_001394825.1:p.Glu1344Ter nonsense NM_001407897.1:c.4030G>T NP_001394826.1:p.Glu1344Ter nonsense NM_001407898.1:c.4030G>T NP_001394827.1:p.Glu1344Ter nonsense NM_001407899.1:c.4030G>T NP_001394828.1:p.Glu1344Ter nonsense NM_001407900.1:c.4033G>T NP_001394829.1:p.Glu1345Ter nonsense NM_001407902.1:c.4033G>T NP_001394831.1:p.Glu1345Ter nonsense NM_001407904.1:c.4033G>T NP_001394833.1:p.Glu1345Ter nonsense NM_001407906.1:c.4033G>T NP_001394835.1:p.Glu1345Ter nonsense NM_001407907.1:c.4030G>T NP_001394836.1:p.Glu1344Ter nonsense NM_001407908.1:c.4030G>T NP_001394837.1:p.Glu1344Ter nonsense NM_001407909.1:c.4030G>T NP_001394838.1:p.Glu1344Ter nonsense NM_001407910.1:c.4030G>T NP_001394839.1:p.Glu1344Ter nonsense NM_001407915.1:c.4027G>T NP_001394844.1:p.Glu1343Ter nonsense NM_001407916.1:c.4030G>T NP_001394845.1:p.Glu1344Ter nonsense NM_001407917.1:c.4030G>T NP_001394846.1:p.Glu1344Ter nonsense NM_001407918.1:c.4030G>T NP_001394847.1:p.Glu1344Ter nonsense NM_001407919.1:c.4120G>T NP_001394848.1:p.Glu1374Ter nonsense NM_001407920.1:c.3979G>T NP_001394849.1:p.Glu1327Ter nonsense NM_001407921.1:c.3979G>T NP_001394850.1:p.Glu1327Ter nonsense NM_001407922.1:c.3979G>T NP_001394851.1:p.Glu1327Ter nonsense NM_001407923.1:c.3979G>T NP_001394852.1:p.Glu1327Ter nonsense NM_001407924.1:c.3979G>T NP_001394853.1:p.Glu1327Ter nonsense NM_001407925.1:c.3979G>T NP_001394854.1:p.Glu1327Ter nonsense NM_001407926.1:c.3979G>T NP_001394855.1:p.Glu1327Ter nonsense NM_001407927.1:c.3979G>T NP_001394856.1:p.Glu1327Ter nonsense NM_001407928.1:c.3979G>T NP_001394857.1:p.Glu1327Ter nonsense NM_001407929.1:c.3979G>T NP_001394858.1:p.Glu1327Ter nonsense NM_001407930.1:c.3976G>T NP_001394859.1:p.Glu1326Ter nonsense NM_001407931.1:c.3976G>T NP_001394860.1:p.Glu1326Ter nonsense NM_001407932.1:c.3976G>T NP_001394861.1:p.Glu1326Ter nonsense NM_001407933.1:c.3976G>T NP_001394862.1:p.Glu1326Ter nonsense NM_001407934.1:c.3973G>T NP_001394863.1:p.Glu1325Ter nonsense NM_001407935.1:c.3976G>T NP_001394864.1:p.Glu1326Ter nonsense NM_001407936.1:c.3976G>T NP_001394865.1:p.Glu1326Ter nonsense NM_001407937.1:c.4120G>T NP_001394866.1:p.Glu1374Ter nonsense NM_001407938.1:c.4120G>T NP_001394867.1:p.Glu1374Ter nonsense NM_001407939.1:c.4120G>T NP_001394868.1:p.Glu1374Ter nonsense NM_001407940.1:c.4117G>T NP_001394869.1:p.Glu1373Ter nonsense NM_001407941.1:c.4117G>T NP_001394870.1:p.Glu1373Ter nonsense NM_001407942.1:c.4102G>T NP_001394871.1:p.Glu1368Ter nonsense NM_001407943.1:c.4099G>T NP_001394872.1:p.Glu1367Ter nonsense NM_001407944.1:c.4102G>T NP_001394873.1:p.Glu1368Ter nonsense NM_001407945.1:c.4102G>T NP_001394874.1:p.Glu1368Ter nonsense NM_001407946.1:c.3910G>T NP_001394875.1:p.Glu1304Ter nonsense NM_001407947.1:c.3910G>T NP_001394876.1:p.Glu1304Ter nonsense NM_001407948.1:c.3910G>T NP_001394877.1:p.Glu1304Ter nonsense NM_001407949.1:c.3910G>T NP_001394878.1:p.Glu1304Ter nonsense NM_001407950.1:c.3910G>T NP_001394879.1:p.Glu1304Ter nonsense NM_001407951.1:c.3910G>T NP_001394880.1:p.Glu1304Ter nonsense NM_001407952.1:c.3907G>T NP_001394881.1:p.Glu1303Ter nonsense NM_001407953.1:c.3907G>T NP_001394882.1:p.Glu1303Ter nonsense NM_001407954.1:c.3907G>T NP_001394883.1:p.Glu1303Ter nonsense NM_001407955.1:c.3907G>T NP_001394884.1:p.Glu1303Ter nonsense NM_001407956.1:c.3904G>T NP_001394885.1:p.Glu1302Ter nonsense NM_001407957.1:c.3907G>T NP_001394886.1:p.Glu1303Ter nonsense NM_001407958.1:c.3907G>T NP_001394887.1:p.Glu1303Ter nonsense NM_001407959.1:c.3862G>T NP_001394888.1:p.Glu1288Ter nonsense NM_001407960.1:c.3862G>T NP_001394889.1:p.Glu1288Ter nonsense NM_001407962.1:c.3859G>T NP_001394891.1:p.Glu1287Ter nonsense NM_001407963.1:c.3859G>T NP_001394892.1:p.Glu1287Ter nonsense NM_001407964.1:c.4099G>T NP_001394893.1:p.Glu1367Ter nonsense NM_001407965.1:c.3736G>T NP_001394894.1:p.Glu1246Ter nonsense NM_001407966.1:c.3355G>T NP_001394895.1:p.Glu1119Ter nonsense NM_001407967.1:c.3355G>T NP_001394896.1:p.Glu1119Ter nonsense NM_001407968.1:c.1639G>T NP_001394897.1:p.Glu547Ter nonsense NM_001407969.1:c.1636G>T NP_001394898.1:p.Glu546Ter nonsense NM_001407970.1:c.934G>T NP_001394899.1:p.Glu312Ter nonsense NM_001407971.1:c.934G>T NP_001394900.1:p.Glu312Ter nonsense NM_001407972.1:c.931G>T NP_001394901.1:p.Glu311Ter nonsense NM_001407973.1:c.934G>T NP_001394902.1:p.Glu312Ter nonsense NM_001407974.1:c.934G>T NP_001394903.1:p.Glu312Ter nonsense NM_001407975.1:c.934G>T NP_001394904.1:p.Glu312Ter nonsense NM_001407976.1:c.934G>T NP_001394905.1:p.Glu312Ter nonsense NM_001407977.1:c.934G>T NP_001394906.1:p.Glu312Ter nonsense NM_001407978.1:c.934G>T NP_001394907.1:p.Glu312Ter nonsense NM_001407979.1:c.931G>T NP_001394908.1:p.Glu311Ter nonsense NM_001407980.1:c.931G>T NP_001394909.1:p.Glu311Ter nonsense NM_001407981.1:c.931G>T NP_001394910.1:p.Glu311Ter nonsense NM_001407982.1:c.931G>T NP_001394911.1:p.Glu311Ter nonsense NM_001407983.1:c.931G>T NP_001394912.1:p.Glu311Ter nonsense NM_001407984.1:c.931G>T NP_001394913.1:p.Glu311Ter nonsense NM_001407985.1:c.931G>T NP_001394914.1:p.Glu311Ter nonsense NM_001407986.1:c.931G>T NP_001394915.1:p.Glu311Ter nonsense NM_001407990.1:c.931G>T NP_001394919.1:p.Glu311Ter nonsense NM_001407991.1:c.931G>T NP_001394920.1:p.Glu311Ter nonsense NM_001407992.1:c.931G>T NP_001394921.1:p.Glu311Ter nonsense NM_001407993.1:c.934G>T NP_001394922.1:p.Glu312Ter nonsense NM_001408392.1:c.931G>T NP_001395321.1:p.Glu311Ter nonsense NM_001408396.1:c.931G>T NP_001395325.1:p.Glu311Ter nonsense NM_001408397.1:c.931G>T NP_001395326.1:p.Glu311Ter nonsense NM_001408398.1:c.931G>T NP_001395327.1:p.Glu311Ter nonsense NM_001408399.1:c.931G>T NP_001395328.1:p.Glu311Ter nonsense NM_001408400.1:c.928G>T NP_001395329.1:p.Glu310Ter nonsense NM_001408401.1:c.928G>T NP_001395330.1:p.Glu310Ter nonsense NM_001408402.1:c.928G>T NP_001395331.1:p.Glu310Ter nonsense NM_001408403.1:c.931G>T NP_001395332.1:p.Glu311Ter nonsense NM_001408404.1:c.931G>T NP_001395333.1:p.Glu311Ter nonsense NM_001408406.1:c.925G>T NP_001395335.1:p.Glu309Ter nonsense NM_001408407.1:c.928G>T NP_001395336.1:p.Glu310Ter nonsense NM_001408408.1:c.925G>T NP_001395337.1:p.Glu309Ter nonsense NM_001408409.1:c.856G>T NP_001395338.1:p.Glu286Ter nonsense NM_001408410.1:c.793G>T NP_001395339.1:p.Glu265Ter nonsense NM_001408411.1:c.856G>T NP_001395340.1:p.Glu286Ter nonsense NM_001408412.1:c.856G>T NP_001395341.1:p.Glu286Ter nonsense NM_001408413.1:c.853G>T NP_001395342.1:p.Glu285Ter nonsense NM_001408414.1:c.856G>T NP_001395343.1:p.Glu286Ter nonsense NM_001408415.1:c.856G>T NP_001395344.1:p.Glu286Ter nonsense NM_001408416.1:c.853G>T NP_001395345.1:p.Glu285Ter nonsense NM_001408418.1:c.817G>T NP_001395347.1:p.Glu273Ter nonsense NM_001408419.1:c.817G>T NP_001395348.1:p.Glu273Ter nonsense NM_001408420.1:c.817G>T NP_001395349.1:p.Glu273Ter nonsense NM_001408421.1:c.814G>T NP_001395350.1:p.Glu272Ter nonsense NM_001408422.1:c.817G>T NP_001395351.1:p.Glu273Ter nonsense NM_001408423.1:c.817G>T NP_001395352.1:p.Glu273Ter nonsense NM_001408424.1:c.814G>T NP_001395353.1:p.Glu272Ter nonsense NM_001408425.1:c.811G>T NP_001395354.1:p.Glu271Ter nonsense NM_001408426.1:c.811G>T NP_001395355.1:p.Glu271Ter nonsense NM_001408427.1:c.811G>T NP_001395356.1:p.Glu271Ter nonsense NM_001408428.1:c.811G>T NP_001395357.1:p.Glu271Ter nonsense NM_001408429.1:c.811G>T NP_001395358.1:p.Glu271Ter nonsense NM_001408430.1:c.811G>T NP_001395359.1:p.Glu271Ter nonsense NM_001408431.1:c.814G>T NP_001395360.1:p.Glu272Ter nonsense NM_001408432.1:c.808G>T NP_001395361.1:p.Glu270Ter nonsense NM_001408433.1:c.808G>T NP_001395362.1:p.Glu270Ter nonsense NM_001408434.1:c.808G>T NP_001395363.1:p.Glu270Ter nonsense NM_001408435.1:c.808G>T NP_001395364.1:p.Glu270Ter nonsense NM_001408436.1:c.811G>T NP_001395365.1:p.Glu271Ter nonsense NM_001408437.1:c.811G>T NP_001395366.1:p.Glu271Ter nonsense NM_001408438.1:c.811G>T NP_001395367.1:p.Glu271Ter nonsense NM_001408439.1:c.811G>T NP_001395368.1:p.Glu271Ter nonsense NM_001408440.1:c.811G>T NP_001395369.1:p.Glu271Ter nonsense NM_001408441.1:c.808G>T NP_001395370.1:p.Glu270Ter nonsense NM_001408442.1:c.808G>T NP_001395371.1:p.Glu270Ter nonsense NM_001408443.1:c.808G>T NP_001395372.1:p.Glu270Ter nonsense NM_001408444.1:c.808G>T NP_001395373.1:p.Glu270Ter nonsense NM_001408445.1:c.808G>T NP_001395374.1:p.Glu270Ter nonsense NM_001408446.1:c.808G>T NP_001395375.1:p.Glu270Ter nonsense NM_001408447.1:c.808G>T NP_001395376.1:p.Glu270Ter nonsense NM_001408448.1:c.808G>T NP_001395377.1:p.Glu270Ter nonsense NM_001408450.1:c.808G>T NP_001395379.1:p.Glu270Ter nonsense NM_001408451.1:c.799G>T NP_001395380.1:p.Glu267Ter nonsense NM_001408452.1:c.793G>T NP_001395381.1:p.Glu265Ter nonsense NM_001408453.1:c.793G>T NP_001395382.1:p.Glu265Ter nonsense NM_001408454.1:c.793G>T NP_001395383.1:p.Glu265Ter nonsense NM_001408455.1:c.793G>T NP_001395384.1:p.Glu265Ter nonsense NM_001408456.1:c.793G>T NP_001395385.1:p.Glu265Ter nonsense NM_001408457.1:c.793G>T NP_001395386.1:p.Glu265Ter nonsense NM_001408458.1:c.793G>T NP_001395387.1:p.Glu265Ter nonsense NM_001408459.1:c.793G>T NP_001395388.1:p.Glu265Ter nonsense NM_001408460.1:c.793G>T NP_001395389.1:p.Glu265Ter nonsense NM_001408461.1:c.793G>T NP_001395390.1:p.Glu265Ter nonsense NM_001408462.1:c.790G>T NP_001395391.1:p.Glu264Ter nonsense NM_001408463.1:c.790G>T NP_001395392.1:p.Glu264Ter nonsense NM_001408464.1:c.790G>T NP_001395393.1:p.Glu264Ter nonsense NM_001408465.1:c.790G>T NP_001395394.1:p.Glu264Ter nonsense NM_001408466.1:c.790G>T NP_001395395.1:p.Glu264Ter nonsense NM_001408467.1:c.790G>T NP_001395396.1:p.Glu264Ter nonsense NM_001408468.1:c.790G>T NP_001395397.1:p.Glu264Ter nonsense NM_001408469.1:c.790G>T NP_001395398.1:p.Glu264Ter nonsense NM_001408470.1:c.787G>T NP_001395399.1:p.Glu263Ter nonsense NM_001408472.1:c.931G>T NP_001395401.1:p.Glu311Ter nonsense NM_001408473.1:c.931G>T NP_001395402.1:p.Glu311Ter nonsense NM_001408474.1:c.733G>T NP_001395403.1:p.Glu245Ter nonsense NM_001408475.1:c.730G>T NP_001395404.1:p.Glu244Ter nonsense NM_001408476.1:c.733G>T NP_001395405.1:p.Glu245Ter nonsense NM_001408478.1:c.724G>T NP_001395407.1:p.Glu242Ter nonsense NM_001408479.1:c.724G>T NP_001395408.1:p.Glu242Ter nonsense NM_001408480.1:c.724G>T NP_001395409.1:p.Glu242Ter nonsense NM_001408481.1:c.724G>T NP_001395410.1:p.Glu242Ter nonsense NM_001408482.1:c.724G>T NP_001395411.1:p.Glu242Ter nonsense NM_001408483.1:c.724G>T NP_001395412.1:p.Glu242Ter nonsense NM_001408484.1:c.724G>T NP_001395413.1:p.Glu242Ter nonsense NM_001408485.1:c.724G>T NP_001395414.1:p.Glu242Ter nonsense NM_001408489.1:c.721G>T NP_001395418.1:p.Glu241Ter nonsense NM_001408490.1:c.721G>T NP_001395419.1:p.Glu241Ter nonsense NM_001408491.1:c.721G>T NP_001395420.1:p.Glu241Ter nonsense NM_001408492.1:c.721G>T NP_001395421.1:p.Glu241Ter nonsense NM_001408493.1:c.721G>T NP_001395422.1:p.Glu241Ter nonsense NM_001408494.1:c.694G>T NP_001395423.1:p.Glu232Ter nonsense NM_001408495.1:c.691G>T NP_001395424.1:p.Glu231Ter nonsense NM_001408496.1:c.670G>T NP_001395425.1:p.Glu224Ter nonsense NM_001408497.1:c.670G>T NP_001395426.1:p.Glu224Ter nonsense NM_001408498.1:c.670G>T NP_001395427.1:p.Glu224Ter nonsense NM_001408499.1:c.670G>T NP_001395428.1:p.Glu224Ter nonsense NM_001408500.1:c.670G>T NP_001395429.1:p.Glu224Ter nonsense NM_001408501.1:c.670G>T NP_001395430.1:p.Glu224Ter nonsense NM_001408502.1:c.601G>T NP_001395431.1:p.Glu201Ter nonsense NM_001408503.1:c.667G>T NP_001395432.1:p.Glu223Ter nonsense NM_001408504.1:c.667G>T NP_001395433.1:p.Glu223Ter nonsense NM_001408505.1:c.667G>T NP_001395434.1:p.Glu223Ter nonsense NM_001408506.1:c.607G>T NP_001395435.1:p.Glu203Ter nonsense NM_001408507.1:c.604G>T NP_001395436.1:p.Glu202Ter nonsense NM_001408508.1:c.595G>T NP_001395437.1:p.Glu199Ter nonsense NM_001408509.1:c.595G>T NP_001395438.1:p.Glu199Ter nonsense NM_001408510.1:c.553G>T NP_001395439.1:p.Glu185Ter nonsense NM_001408511.1:c.550G>T NP_001395440.1:p.Glu184Ter nonsense NM_001408512.1:c.430G>T NP_001395441.1:p.Glu144Ter nonsense NM_001408513.1:c.721G>T NP_001395442.1:p.Glu241Ter nonsense NM_001408514.1:c.724G>T NP_001395443.1:p.Glu242Ter nonsense NM_007297.4:c.4102G>T NP_009228.2:p.Glu1368Ter nonsense NM_007298.4:c.934G>T NP_009229.2:p.Glu312Ter nonsense NM_007299.4:c.934G>T NP_009230.2:p.Glu312Ter nonsense NM_007300.4:c.4243G>T NP_009231.2:p.Glu1415Ter nonsense NM_007304.2:c.934G>T NP_009235.2:p.Glu312Ter nonsense NR_027676.2:n.4420G>T non-coding transcript variant NC_000017.11:g.43082518C>A NC_000017.10:g.41234535C>A NG_005905.2:g.135466G>T LRG_292:g.135466G>T LRG_292t1:c.4243G>T LRG_292p1:p.Glu1415Ter - Protein change
- E1415*, E1368*, E312*, E1246*, E1287*, E1326*, E1343*, E1367*, E1374*, E184*, E203*, E232*, E242*, E265*, E270*, E272*, E285*, E310*, E311*, E1302*, E1347*, E1387*, E144*, E264*, E546*, E1288*, E1303*, E1304*, E1327*, E1344*, E1345*, E1348*, E1366*, E1373*, E1388*, E1414*, E185*, E199*, E201*, E223*, E231*, E241*, E244*, E267*, E286*, E1119*, E1325*, E1372*, E1389*, E1411*, E1413*, E202*, E224*, E245*, E263*, E271*, E273*, E309*, E547*
- Other names
- -
- Canonical SPDI
- NC_000017.11:43082517:C:A
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13044 | 14850 | |
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. |
|---|---|---|---|---|
| Likely pathogenic (1) |
no assertion criteria provided
|
Jun 28, 2016 | RCV000417027.9 | |
| Pathogenic (1) |
reviewed by expert panel
|
Dec 15, 2017 | RCV000661024.9 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Dec 15, 2017)
|
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)
Study: ENIGMA
Accession: SCV000783268.1 First in ClinVar: Jul 13, 2018 Last updated: Jul 13, 2018 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
Likely pathogenic
(Jun 28, 2016)
|
no assertion criteria provided
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
Veritas Genetics, Veritas Genetics
Accession: SCV000494571.1
First in ClinVar: Feb 12, 2017 Last updated: Feb 12, 2017 |
Number of individuals with the variant: 1
|
Comment:
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Citations for germline classification of this variant
Help| There 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 rs1057519558 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Nov 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.