Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4243_4244insT (p.Glu1415fs)
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
-
NM_007294.4(BRCA1):c.4243_4244insT (p.Glu1415fs)
Variation ID: 548281 Accession: VCV000548281.2
- Type and length
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Insertion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43082517-43082518 (GRCh38) [ NCBI UCSC ] 17: 41234534-41234535 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Jul 13, 2018 Jul 13, 2018 Dec 15, 2017 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4243_4244insT MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu1415fs frameshift NM_001407571.1:c.4030_4031insT NP_001394500.1:p.Glu1344Valfs frameshift NM_001407581.1:c.4243_4244insT NP_001394510.1:p.Glu1415Valfs frameshift NM_001407582.1:c.4243_4244insT NP_001394511.1:p.Glu1415Valfs frameshift NM_001407583.1:c.4243_4244insT NP_001394512.1:p.Glu1415Valfs frameshift NM_001407585.1:c.4243_4244insT NP_001394514.1:p.Glu1415Valfs frameshift NM_001407587.1:c.4240_4241insT NP_001394516.1:p.Glu1414Valfs frameshift NM_001407590.1:c.4240_4241insT NP_001394519.1:p.Glu1414Valfs frameshift NM_001407591.1:c.4240_4241insT NP_001394520.1:p.Glu1414Valfs frameshift NM_001407593.1:c.4243_4244insT NP_001394522.1:p.Glu1415Valfs frameshift NM_001407594.1:c.4243_4244insT NP_001394523.1:p.Glu1415Valfs frameshift NM_001407596.1:c.4243_4244insT NP_001394525.1:p.Glu1415Valfs frameshift NM_001407597.1:c.4243_4244insT NP_001394526.1:p.Glu1415Valfs frameshift NM_001407598.1:c.4243_4244insT NP_001394527.1:p.Glu1415Valfs frameshift NM_001407602.1:c.4243_4244insT NP_001394531.1:p.Glu1415Valfs frameshift NM_001407603.1:c.4243_4244insT NP_001394532.1:p.Glu1415Valfs frameshift NM_001407605.1:c.4243_4244insT NP_001394534.1:p.Glu1415Valfs frameshift NM_001407610.1:c.4240_4241insT NP_001394539.1:p.Glu1414Valfs frameshift NM_001407611.1:c.4240_4241insT NP_001394540.1:p.Glu1414Valfs frameshift NM_001407612.1:c.4240_4241insT NP_001394541.1:p.Glu1414Valfs frameshift NM_001407613.1:c.4240_4241insT NP_001394542.1:p.Glu1414Valfs frameshift NM_001407614.1:c.4240_4241insT NP_001394543.1:p.Glu1414Valfs frameshift NM_001407615.1:c.4240_4241insT NP_001394544.1:p.Glu1414Valfs frameshift NM_001407616.1:c.4243_4244insT NP_001394545.1:p.Glu1415Valfs frameshift NM_001407617.1:c.4243_4244insT NP_001394546.1:p.Glu1415Valfs frameshift NM_001407618.1:c.4243_4244insT NP_001394547.1:p.Glu1415Valfs frameshift NM_001407619.1:c.4243_4244insT NP_001394548.1:p.Glu1415Valfs frameshift NM_001407620.1:c.4243_4244insT NP_001394549.1:p.Glu1415Valfs frameshift NM_001407621.1:c.4243_4244insT NP_001394550.1:p.Glu1415Valfs frameshift NM_001407622.1:c.4243_4244insT NP_001394551.1:p.Glu1415Valfs frameshift NM_001407623.1:c.4243_4244insT NP_001394552.1:p.Glu1415Valfs frameshift NM_001407624.1:c.4240_4241insT NP_001394553.1:p.Glu1414Valfs frameshift NM_001407625.1:c.4240_4241insT NP_001394554.1:p.Glu1414Valfs frameshift NM_001407626.1:c.4240_4241insT NP_001394555.1:p.Glu1414Valfs frameshift NM_001407627.1:c.4237_4238insT NP_001394556.1:p.Glu1413Valfs frameshift NM_001407628.1:c.4237_4238insT NP_001394557.1:p.Glu1413Valfs frameshift NM_001407629.1:c.4237_4238insT NP_001394558.1:p.Glu1413Valfs frameshift NM_001407630.1:c.4237_4238insT NP_001394559.1:p.Glu1413Valfs frameshift NM_001407631.1:c.4237_4238insT NP_001394560.1:p.Glu1413Valfs frameshift NM_001407632.1:c.4237_4238insT NP_001394561.1:p.Glu1413Valfs frameshift NM_001407633.1:c.4240_4241insT NP_001394562.1:p.Glu1414Valfs frameshift NM_001407634.1:c.4240_4241insT NP_001394563.1:p.Glu1414Valfs frameshift NM_001407635.1:c.4240_4241insT NP_001394564.1:p.Glu1414Valfs frameshift NM_001407636.1:c.4240_4241insT NP_001394565.1:p.Glu1414Valfs frameshift NM_001407637.1:c.4240_4241insT NP_001394566.1:p.Glu1414Valfs frameshift NM_001407638.1:c.4240_4241insT NP_001394567.1:p.Glu1414Valfs frameshift NM_001407639.1:c.4240_4241insT NP_001394568.1:p.Glu1414Valfs frameshift NM_001407640.1:c.4240_4241insT NP_001394569.1:p.Glu1414Valfs frameshift NM_001407641.1:c.4240_4241insT NP_001394570.1:p.Glu1414Valfs frameshift NM_001407642.1:c.4240_4241insT NP_001394571.1:p.Glu1414Valfs frameshift NM_001407644.1:c.4237_4238insT NP_001394573.1:p.Glu1413Valfs frameshift NM_001407645.1:c.4237_4238insT NP_001394574.1:p.Glu1413Valfs frameshift NM_001407646.1:c.4231_4232insT NP_001394575.1:p.Glu1411Valfs frameshift NM_001407647.1:c.4231_4232insT NP_001394576.1:p.Glu1411Valfs frameshift NM_001407648.1:c.4120_4121insT NP_001394577.1:p.Glu1374Valfs frameshift NM_001407649.1:c.4117_4118insT NP_001394578.1:p.Glu1373Valfs frameshift NM_001407652.1:c.4243_4244insT NP_001394581.1:p.Glu1415Valfs frameshift NM_001407653.1:c.4165_4166insT NP_001394582.1:p.Glu1389Valfs frameshift NM_001407654.1:c.4165_4166insT NP_001394583.1:p.Glu1389Valfs frameshift NM_001407655.1:c.4165_4166insT NP_001394584.1:p.Glu1389Valfs frameshift NM_001407656.1:c.4162_4163insT NP_001394585.1:p.Glu1388Valfs frameshift NM_001407657.1:c.4165_4166insT NP_001394586.1:p.Glu1389Valfs frameshift NM_001407658.1:c.4165_4166insT NP_001394587.1:p.Glu1389Valfs frameshift NM_001407659.1:c.4159_4160insT NP_001394588.1:p.Glu1387Valfs frameshift NM_001407660.1:c.4159_4160insT NP_001394589.1:p.Glu1387Valfs frameshift NM_001407661.1:c.4162_4163insT NP_001394590.1:p.Glu1388Valfs frameshift NM_001407662.1:c.4162_4163insT NP_001394591.1:p.Glu1388Valfs frameshift NM_001407663.1:c.4162_4163insT NP_001394592.1:p.Glu1388Valfs frameshift NM_001407664.1:c.4120_4121insT NP_001394593.1:p.Glu1374Valfs frameshift NM_001407665.1:c.4120_4121insT NP_001394594.1:p.Glu1374Valfs frameshift NM_001407666.1:c.4120_4121insT NP_001394595.1:p.Glu1374Valfs frameshift NM_001407667.1:c.4120_4121insT NP_001394596.1:p.Glu1374Valfs frameshift NM_001407668.1:c.4120_4121insT NP_001394597.1:p.Glu1374Valfs frameshift NM_001407669.1:c.4120_4121insT NP_001394598.1:p.Glu1374Valfs frameshift NM_001407670.1:c.4117_4118insT NP_001394599.1:p.Glu1373Valfs frameshift NM_001407671.1:c.4117_4118insT NP_001394600.1:p.Glu1373Valfs frameshift NM_001407672.1:c.4117_4118insT NP_001394601.1:p.Glu1373Valfs frameshift NM_001407673.1:c.4117_4118insT NP_001394602.1:p.Glu1373Valfs frameshift NM_001407674.1:c.4117_4118insT NP_001394603.1:p.Glu1373Valfs frameshift NM_001407675.1:c.4117_4118insT NP_001394604.1:p.Glu1373Valfs frameshift NM_001407676.1:c.4117_4118insT NP_001394605.1:p.Glu1373Valfs frameshift NM_001407677.1:c.4120_4121insT NP_001394606.1:p.Glu1374Valfs frameshift NM_001407678.1:c.4120_4121insT NP_001394607.1:p.Glu1374Valfs frameshift NM_001407679.1:c.4120_4121insT NP_001394608.1:p.Glu1374Valfs frameshift NM_001407680.1:c.4120_4121insT NP_001394609.1:p.Glu1374Valfs frameshift NM_001407681.1:c.4117_4118insT NP_001394610.1:p.Glu1373Valfs frameshift NM_001407682.1:c.4117_4118insT NP_001394611.1:p.Glu1373Valfs frameshift NM_001407683.1:c.4117_4118insT NP_001394612.1:p.Glu1373Valfs frameshift NM_001407684.1:c.4243_4244insT NP_001394613.1:p.Glu1415Valfs frameshift NM_001407685.1:c.4114_4115insT NP_001394614.1:p.Glu1372Valfs frameshift NM_001407686.1:c.4114_4115insT NP_001394615.1:p.Glu1372Valfs frameshift NM_001407687.1:c.4114_4115insT NP_001394616.1:p.Glu1372Valfs frameshift NM_001407688.1:c.4117_4118insT NP_001394617.1:p.Glu1373Valfs frameshift NM_001407689.1:c.4117_4118insT NP_001394618.1:p.Glu1373Valfs frameshift NM_001407690.1:c.4114_4115insT NP_001394619.1:p.Glu1372Valfs frameshift NM_001407691.1:c.4114_4115insT NP_001394620.1:p.Glu1372Valfs frameshift NM_001407692.1:c.4102_4103insT NP_001394621.1:p.Glu1368Valfs frameshift NM_001407694.1:c.4102_4103insT NP_001394623.1:p.Glu1368Valfs frameshift NM_001407695.1:c.4102_4103insT NP_001394624.1:p.Glu1368Valfs frameshift NM_001407696.1:c.4102_4103insT NP_001394625.1:p.Glu1368Valfs frameshift NM_001407697.1:c.4102_4103insT NP_001394626.1:p.Glu1368Valfs frameshift NM_001407698.1:c.4102_4103insT NP_001394627.1:p.Glu1368Valfs frameshift NM_001407724.1:c.4102_4103insT NP_001394653.1:p.Glu1368Valfs frameshift NM_001407725.1:c.4102_4103insT NP_001394654.1:p.Glu1368Valfs frameshift NM_001407726.1:c.4102_4103insT NP_001394655.1:p.Glu1368Valfs frameshift NM_001407727.1:c.4102_4103insT NP_001394656.1:p.Glu1368Valfs frameshift NM_001407728.1:c.4102_4103insT NP_001394657.1:p.Glu1368Valfs frameshift NM_001407729.1:c.4102_4103insT NP_001394658.1:p.Glu1368Valfs frameshift NM_001407730.1:c.4102_4103insT NP_001394659.1:p.Glu1368Valfs frameshift NM_001407731.1:c.4102_4103insT NP_001394660.1:p.Glu1368Valfs frameshift NM_001407732.1:c.4102_4103insT NP_001394661.1:p.Glu1368Valfs frameshift NM_001407733.1:c.4102_4103insT NP_001394662.1:p.Glu1368Valfs frameshift NM_001407734.1:c.4102_4103insT NP_001394663.1:p.Glu1368Valfs frameshift NM_001407735.1:c.4102_4103insT NP_001394664.1:p.Glu1368Valfs frameshift NM_001407736.1:c.4102_4103insT NP_001394665.1:p.Glu1368Valfs frameshift NM_001407737.1:c.4102_4103insT NP_001394666.1:p.Glu1368Valfs frameshift NM_001407738.1:c.4102_4103insT NP_001394667.1:p.Glu1368Valfs frameshift NM_001407739.1:c.4102_4103insT NP_001394668.1:p.Glu1368Valfs frameshift NM_001407740.1:c.4099_4100insT NP_001394669.1:p.Glu1367Valfs frameshift NM_001407741.1:c.4099_4100insT NP_001394670.1:p.Glu1367Valfs frameshift NM_001407742.1:c.4099_4100insT NP_001394671.1:p.Glu1367Valfs frameshift NM_001407743.1:c.4099_4100insT NP_001394672.1:p.Glu1367Valfs frameshift NM_001407744.1:c.4099_4100insT NP_001394673.1:p.Glu1367Valfs frameshift NM_001407745.1:c.4099_4100insT NP_001394674.1:p.Glu1367Valfs frameshift NM_001407746.1:c.4099_4100insT NP_001394675.1:p.Glu1367Valfs frameshift NM_001407747.1:c.4099_4100insT NP_001394676.1:p.Glu1367Valfs frameshift NM_001407748.1:c.4099_4100insT NP_001394677.1:p.Glu1367Valfs frameshift NM_001407749.1:c.4099_4100insT NP_001394678.1:p.Glu1367Valfs frameshift NM_001407750.1:c.4099_4100insT NP_001394679.1:p.Glu1367Valfs frameshift NM_001407751.1:c.4099_4100insT NP_001394680.1:p.Glu1367Valfs frameshift NM_001407752.1:c.4099_4100insT NP_001394681.1:p.Glu1367Valfs frameshift NM_001407838.1:c.4099_4100insT NP_001394767.1:p.Glu1367Valfs frameshift NM_001407839.1:c.4099_4100insT NP_001394768.1:p.Glu1367Valfs frameshift NM_001407841.1:c.4099_4100insT NP_001394770.1:p.Glu1367Valfs frameshift NM_001407842.1:c.4099_4100insT NP_001394771.1:p.Glu1367Valfs frameshift NM_001407843.1:c.4099_4100insT NP_001394772.1:p.Glu1367Valfs frameshift NM_001407844.1:c.4099_4100insT NP_001394773.1:p.Glu1367Valfs frameshift NM_001407845.1:c.4099_4100insT NP_001394774.1:p.Glu1367Valfs frameshift NM_001407846.1:c.4099_4100insT NP_001394775.1:p.Glu1367Valfs frameshift NM_001407847.1:c.4096_4097insT NP_001394776.1:p.Glu1366Valfs frameshift NM_001407848.1:c.4096_4097insT NP_001394777.1:p.Glu1366Valfs frameshift NM_001407849.1:c.4096_4097insT NP_001394778.1:p.Glu1366Valfs frameshift NM_001407850.1:c.4099_4100insT NP_001394779.1:p.Glu1367Valfs frameshift NM_001407851.1:c.4099_4100insT NP_001394780.1:p.Glu1367Valfs frameshift NM_001407852.1:c.4099_4100insT NP_001394781.1:p.Glu1367Valfs frameshift NM_001407853.1:c.4030_4031insT NP_001394782.1:p.Glu1344Valfs frameshift NM_001407854.1:c.4243_4244insT NP_001394783.1:p.Glu1415Valfs frameshift NM_001407858.1:c.4243_4244insT NP_001394787.1:p.Glu1415Valfs frameshift NM_001407859.1:c.4243_4244insT NP_001394788.1:p.Glu1415Valfs frameshift NM_001407860.1:c.4240_4241insT NP_001394789.1:p.Glu1414Valfs frameshift NM_001407861.1:c.4240_4241insT NP_001394790.1:p.Glu1414Valfs frameshift NM_001407862.1:c.4042_4043insT NP_001394791.1:p.Glu1348Valfs frameshift NM_001407863.1:c.4120_4121insT NP_001394792.1:p.Glu1374Valfs frameshift NM_001407874.1:c.4039_4040insT NP_001394803.1:p.Glu1347Valfs frameshift NM_001407875.1:c.4039_4040insT NP_001394804.1:p.Glu1347Valfs frameshift NM_001407879.1:c.4033_4034insT NP_001394808.1:p.Glu1345Valfs frameshift NM_001407881.1:c.4033_4034insT NP_001394810.1:p.Glu1345Valfs frameshift NM_001407882.1:c.4033_4034insT NP_001394811.1:p.Glu1345Valfs frameshift NM_001407884.1:c.4033_4034insT NP_001394813.1:p.Glu1345Valfs frameshift NM_001407885.1:c.4033_4034insT NP_001394814.1:p.Glu1345Valfs frameshift NM_001407886.1:c.4033_4034insT NP_001394815.1:p.Glu1345Valfs frameshift NM_001407887.1:c.4033_4034insT NP_001394816.1:p.Glu1345Valfs frameshift NM_001407889.1:c.4033_4034insT NP_001394818.1:p.Glu1345Valfs frameshift NM_001407894.1:c.4030_4031insT NP_001394823.1:p.Glu1344Valfs frameshift NM_001407895.1:c.4030_4031insT NP_001394824.1:p.Glu1344Valfs frameshift NM_001407896.1:c.4030_4031insT NP_001394825.1:p.Glu1344Valfs frameshift NM_001407897.1:c.4030_4031insT NP_001394826.1:p.Glu1344Valfs frameshift NM_001407898.1:c.4030_4031insT NP_001394827.1:p.Glu1344Valfs frameshift NM_001407899.1:c.4030_4031insT NP_001394828.1:p.Glu1344Valfs frameshift NM_001407900.1:c.4033_4034insT NP_001394829.1:p.Glu1345Valfs frameshift NM_001407902.1:c.4033_4034insT NP_001394831.1:p.Glu1345Valfs frameshift NM_001407904.1:c.4033_4034insT NP_001394833.1:p.Glu1345Valfs frameshift NM_001407906.1:c.4033_4034insT NP_001394835.1:p.Glu1345Valfs frameshift NM_001407907.1:c.4030_4031insT NP_001394836.1:p.Glu1344Valfs frameshift NM_001407908.1:c.4030_4031insT NP_001394837.1:p.Glu1344Valfs frameshift NM_001407909.1:c.4030_4031insT NP_001394838.1:p.Glu1344Valfs frameshift NM_001407910.1:c.4030_4031insT NP_001394839.1:p.Glu1344Valfs frameshift NM_001407915.1:c.4027_4028insT NP_001394844.1:p.Glu1343Valfs frameshift NM_001407916.1:c.4030_4031insT NP_001394845.1:p.Glu1344Valfs frameshift NM_001407917.1:c.4030_4031insT NP_001394846.1:p.Glu1344Valfs frameshift NM_001407918.1:c.4030_4031insT NP_001394847.1:p.Glu1344Valfs frameshift NM_001407919.1:c.4120_4121insT NP_001394848.1:p.Glu1374Valfs frameshift NM_001407920.1:c.3979_3980insT NP_001394849.1:p.Glu1327Valfs frameshift NM_001407921.1:c.3979_3980insT NP_001394850.1:p.Glu1327Valfs frameshift NM_001407922.1:c.3979_3980insT NP_001394851.1:p.Glu1327Valfs frameshift NM_001407923.1:c.3979_3980insT NP_001394852.1:p.Glu1327Valfs frameshift NM_001407924.1:c.3979_3980insT NP_001394853.1:p.Glu1327Valfs frameshift NM_001407925.1:c.3979_3980insT NP_001394854.1:p.Glu1327Valfs frameshift NM_001407926.1:c.3979_3980insT NP_001394855.1:p.Glu1327Valfs frameshift NM_001407927.1:c.3979_3980insT NP_001394856.1:p.Glu1327Valfs frameshift NM_001407928.1:c.3979_3980insT NP_001394857.1:p.Glu1327Valfs frameshift NM_001407929.1:c.3979_3980insT NP_001394858.1:p.Glu1327Valfs frameshift NM_001407930.1:c.3976_3977insT NP_001394859.1:p.Glu1326Valfs frameshift NM_001407931.1:c.3976_3977insT NP_001394860.1:p.Glu1326Valfs frameshift NM_001407932.1:c.3976_3977insT NP_001394861.1:p.Glu1326Valfs frameshift NM_001407933.1:c.3976_3977insT NP_001394862.1:p.Glu1326Valfs frameshift NM_001407934.1:c.3973_3974insT NP_001394863.1:p.Glu1325Valfs frameshift NM_001407935.1:c.3976_3977insT NP_001394864.1:p.Glu1326Valfs frameshift NM_001407936.1:c.3976_3977insT NP_001394865.1:p.Glu1326Valfs frameshift NM_001407937.1:c.4120_4121insT NP_001394866.1:p.Glu1374Valfs frameshift NM_001407938.1:c.4120_4121insT NP_001394867.1:p.Glu1374Valfs frameshift NM_001407939.1:c.4120_4121insT NP_001394868.1:p.Glu1374Valfs frameshift NM_001407940.1:c.4117_4118insT NP_001394869.1:p.Glu1373Valfs frameshift NM_001407941.1:c.4117_4118insT NP_001394870.1:p.Glu1373Valfs frameshift NM_001407942.1:c.4102_4103insT NP_001394871.1:p.Glu1368Valfs frameshift NM_001407943.1:c.4099_4100insT NP_001394872.1:p.Glu1367Valfs frameshift NM_001407944.1:c.4102_4103insT NP_001394873.1:p.Glu1368Valfs frameshift NM_001407945.1:c.4102_4103insT NP_001394874.1:p.Glu1368Valfs frameshift NM_001407946.1:c.3910_3911insT NP_001394875.1:p.Glu1304Valfs frameshift NM_001407947.1:c.3910_3911insT NP_001394876.1:p.Glu1304Valfs frameshift NM_001407948.1:c.3910_3911insT NP_001394877.1:p.Glu1304Valfs frameshift NM_001407949.1:c.3910_3911insT NP_001394878.1:p.Glu1304Valfs frameshift NM_001407950.1:c.3910_3911insT NP_001394879.1:p.Glu1304Valfs frameshift NM_001407951.1:c.3910_3911insT NP_001394880.1:p.Glu1304Valfs frameshift NM_001407952.1:c.3907_3908insT NP_001394881.1:p.Glu1303Valfs frameshift NM_001407953.1:c.3907_3908insT NP_001394882.1:p.Glu1303Valfs frameshift NM_001407954.1:c.3907_3908insT NP_001394883.1:p.Glu1303Valfs frameshift NM_001407955.1:c.3907_3908insT NP_001394884.1:p.Glu1303Valfs frameshift NM_001407956.1:c.3904_3905insT NP_001394885.1:p.Glu1302Valfs frameshift NM_001407957.1:c.3907_3908insT NP_001394886.1:p.Glu1303Valfs frameshift NM_001407958.1:c.3907_3908insT NP_001394887.1:p.Glu1303Valfs frameshift NM_001407959.1:c.3862_3863insT NP_001394888.1:p.Glu1288Valfs frameshift NM_001407960.1:c.3862_3863insT NP_001394889.1:p.Glu1288Valfs frameshift NM_001407962.1:c.3859_3860insT NP_001394891.1:p.Glu1287Valfs frameshift NM_001407963.1:c.3859_3860insT NP_001394892.1:p.Glu1287Valfs frameshift NM_001407964.1:c.4099_4100insT NP_001394893.1:p.Glu1367Valfs frameshift NM_001407965.1:c.3736_3737insT NP_001394894.1:p.Glu1246Valfs frameshift NM_001407966.1:c.3355_3356insT NP_001394895.1:p.Glu1119Valfs frameshift NM_001407967.1:c.3355_3356insT NP_001394896.1:p.Glu1119Valfs frameshift NM_001407968.1:c.1639_1640insT NP_001394897.1:p.Glu547Valfs frameshift NM_001407969.1:c.1636_1637insT NP_001394898.1:p.Glu546Valfs frameshift NM_001407970.1:c.934_935insT NP_001394899.1:p.Glu312Valfs frameshift NM_001407971.1:c.934_935insT NP_001394900.1:p.Glu312Valfs frameshift NM_001407972.1:c.931_932insT NP_001394901.1:p.Glu311Valfs frameshift NM_001407973.1:c.934_935insT NP_001394902.1:p.Glu312Valfs frameshift NM_001407974.1:c.934_935insT NP_001394903.1:p.Glu312Valfs frameshift NM_001407975.1:c.934_935insT NP_001394904.1:p.Glu312Valfs frameshift NM_001407976.1:c.934_935insT NP_001394905.1:p.Glu312Valfs frameshift NM_001407977.1:c.934_935insT NP_001394906.1:p.Glu312Valfs frameshift NM_001407978.1:c.934_935insT NP_001394907.1:p.Glu312Valfs frameshift NM_001407979.1:c.931_932insT NP_001394908.1:p.Glu311Valfs frameshift NM_001407980.1:c.931_932insT NP_001394909.1:p.Glu311Valfs frameshift NM_001407981.1:c.931_932insT NP_001394910.1:p.Glu311Valfs frameshift NM_001407982.1:c.931_932insT NP_001394911.1:p.Glu311Valfs frameshift NM_001407983.1:c.931_932insT NP_001394912.1:p.Glu311Valfs frameshift NM_001407984.1:c.931_932insT NP_001394913.1:p.Glu311Valfs frameshift NM_001407985.1:c.931_932insT NP_001394914.1:p.Glu311Valfs frameshift NM_001407986.1:c.931_932insT NP_001394915.1:p.Glu311Valfs frameshift NM_001407990.1:c.931_932insT NP_001394919.1:p.Glu311Valfs frameshift NM_001407991.1:c.931_932insT NP_001394920.1:p.Glu311Valfs frameshift NM_001407992.1:c.931_932insT NP_001394921.1:p.Glu311Valfs frameshift NM_001407993.1:c.934_935insT NP_001394922.1:p.Glu312Valfs frameshift NM_001408392.1:c.931_932insT NP_001395321.1:p.Glu311Valfs frameshift NM_001408396.1:c.931_932insT NP_001395325.1:p.Glu311Valfs frameshift NM_001408397.1:c.931_932insT NP_001395326.1:p.Glu311Valfs frameshift NM_001408398.1:c.931_932insT NP_001395327.1:p.Glu311Valfs frameshift NM_001408399.1:c.931_932insT NP_001395328.1:p.Glu311Valfs frameshift NM_001408400.1:c.928_929insT NP_001395329.1:p.Glu310Valfs frameshift NM_001408401.1:c.928_929insT NP_001395330.1:p.Glu310Valfs frameshift NM_001408402.1:c.928_929insT NP_001395331.1:p.Glu310Valfs frameshift NM_001408403.1:c.931_932insT NP_001395332.1:p.Glu311Valfs frameshift NM_001408404.1:c.931_932insT NP_001395333.1:p.Glu311Valfs frameshift NM_001408406.1:c.925_926insT NP_001395335.1:p.Glu309Valfs frameshift NM_001408407.1:c.928_929insT NP_001395336.1:p.Glu310Valfs frameshift NM_001408408.1:c.925_926insT NP_001395337.1:p.Glu309Valfs frameshift NM_001408409.1:c.856_857insT NP_001395338.1:p.Glu286Valfs frameshift NM_001408410.1:c.793_794insT NP_001395339.1:p.Glu265Valfs frameshift NM_001408411.1:c.856_857insT NP_001395340.1:p.Glu286Valfs frameshift NM_001408412.1:c.856_857insT NP_001395341.1:p.Glu286Valfs frameshift NM_001408413.1:c.853_854insT NP_001395342.1:p.Glu285Valfs frameshift NM_001408414.1:c.856_857insT NP_001395343.1:p.Glu286Valfs frameshift NM_001408415.1:c.856_857insT NP_001395344.1:p.Glu286Valfs frameshift NM_001408416.1:c.853_854insT NP_001395345.1:p.Glu285Valfs frameshift NM_001408418.1:c.817_818insT NP_001395347.1:p.Glu273Valfs frameshift NM_001408419.1:c.817_818insT NP_001395348.1:p.Glu273Valfs frameshift NM_001408420.1:c.817_818insT NP_001395349.1:p.Glu273Valfs frameshift NM_001408421.1:c.814_815insT NP_001395350.1:p.Glu272Valfs frameshift NM_001408422.1:c.817_818insT NP_001395351.1:p.Glu273Valfs frameshift NM_001408423.1:c.817_818insT NP_001395352.1:p.Glu273Valfs frameshift NM_001408424.1:c.814_815insT NP_001395353.1:p.Glu272Valfs frameshift NM_001408425.1:c.811_812insT NP_001395354.1:p.Glu271Valfs frameshift NM_001408426.1:c.811_812insT NP_001395355.1:p.Glu271Valfs frameshift NM_001408427.1:c.811_812insT NP_001395356.1:p.Glu271Valfs frameshift NM_001408428.1:c.811_812insT NP_001395357.1:p.Glu271Valfs frameshift NM_001408429.1:c.811_812insT NP_001395358.1:p.Glu271Valfs frameshift NM_001408430.1:c.811_812insT NP_001395359.1:p.Glu271Valfs frameshift NM_001408431.1:c.814_815insT NP_001395360.1:p.Glu272Valfs frameshift NM_001408432.1:c.808_809insT NP_001395361.1:p.Glu270Valfs frameshift NM_001408433.1:c.808_809insT NP_001395362.1:p.Glu270Valfs frameshift NM_001408434.1:c.808_809insT NP_001395363.1:p.Glu270Valfs frameshift NM_001408435.1:c.808_809insT NP_001395364.1:p.Glu270Valfs frameshift NM_001408436.1:c.811_812insT NP_001395365.1:p.Glu271Valfs frameshift NM_001408437.1:c.811_812insT NP_001395366.1:p.Glu271Valfs frameshift NM_001408438.1:c.811_812insT NP_001395367.1:p.Glu271Valfs frameshift NM_001408439.1:c.811_812insT NP_001395368.1:p.Glu271Valfs frameshift NM_001408440.1:c.811_812insT NP_001395369.1:p.Glu271Valfs frameshift NM_001408441.1:c.808_809insT NP_001395370.1:p.Glu270Valfs frameshift NM_001408442.1:c.808_809insT NP_001395371.1:p.Glu270Valfs frameshift NM_001408443.1:c.808_809insT NP_001395372.1:p.Glu270Valfs frameshift NM_001408444.1:c.808_809insT NP_001395373.1:p.Glu270Valfs frameshift NM_001408445.1:c.808_809insT NP_001395374.1:p.Glu270Valfs frameshift NM_001408446.1:c.808_809insT NP_001395375.1:p.Glu270Valfs frameshift NM_001408447.1:c.808_809insT NP_001395376.1:p.Glu270Valfs frameshift NM_001408448.1:c.808_809insT NP_001395377.1:p.Glu270Valfs frameshift NM_001408450.1:c.808_809insT NP_001395379.1:p.Glu270Valfs frameshift NM_001408451.1:c.799_800insT NP_001395380.1:p.Glu267Valfs frameshift NM_001408452.1:c.793_794insT NP_001395381.1:p.Glu265Valfs frameshift NM_001408453.1:c.793_794insT NP_001395382.1:p.Glu265Valfs frameshift NM_001408454.1:c.793_794insT NP_001395383.1:p.Glu265Valfs frameshift NM_001408455.1:c.793_794insT NP_001395384.1:p.Glu265Valfs frameshift NM_001408456.1:c.793_794insT NP_001395385.1:p.Glu265Valfs frameshift NM_001408457.1:c.793_794insT NP_001395386.1:p.Glu265Valfs frameshift NM_001408458.1:c.793_794insT NP_001395387.1:p.Glu265Valfs frameshift NM_001408459.1:c.793_794insT NP_001395388.1:p.Glu265Valfs frameshift NM_001408460.1:c.793_794insT NP_001395389.1:p.Glu265Valfs frameshift NM_001408461.1:c.793_794insT NP_001395390.1:p.Glu265Valfs frameshift NM_001408462.1:c.790_791insT NP_001395391.1:p.Glu264Valfs frameshift NM_001408463.1:c.790_791insT NP_001395392.1:p.Glu264Valfs frameshift NM_001408464.1:c.790_791insT NP_001395393.1:p.Glu264Valfs frameshift NM_001408465.1:c.790_791insT NP_001395394.1:p.Glu264Valfs frameshift NM_001408466.1:c.790_791insT NP_001395395.1:p.Glu264Valfs frameshift NM_001408467.1:c.790_791insT NP_001395396.1:p.Glu264Valfs frameshift NM_001408468.1:c.790_791insT NP_001395397.1:p.Glu264Valfs frameshift NM_001408469.1:c.790_791insT NP_001395398.1:p.Glu264Valfs frameshift NM_001408470.1:c.787_788insT NP_001395399.1:p.Glu263Valfs frameshift NM_001408472.1:c.931_932insT NP_001395401.1:p.Glu311Valfs frameshift NM_001408473.1:c.931_932insT NP_001395402.1:p.Glu311Valfs frameshift NM_001408474.1:c.733_734insT NP_001395403.1:p.Glu245Valfs frameshift NM_001408475.1:c.730_731insT NP_001395404.1:p.Glu244Valfs frameshift NM_001408476.1:c.733_734insT NP_001395405.1:p.Glu245Valfs frameshift NM_001408478.1:c.724_725insT NP_001395407.1:p.Glu242Valfs frameshift NM_001408479.1:c.724_725insT NP_001395408.1:p.Glu242Valfs frameshift NM_001408480.1:c.724_725insT NP_001395409.1:p.Glu242Valfs frameshift NM_001408481.1:c.724_725insT NP_001395410.1:p.Glu242Valfs frameshift NM_001408482.1:c.724_725insT NP_001395411.1:p.Glu242Valfs frameshift NM_001408483.1:c.724_725insT NP_001395412.1:p.Glu242Valfs frameshift NM_001408484.1:c.724_725insT NP_001395413.1:p.Glu242Valfs frameshift NM_001408485.1:c.724_725insT NP_001395414.1:p.Glu242Valfs frameshift NM_001408489.1:c.721_722insT NP_001395418.1:p.Glu241Valfs frameshift NM_001408490.1:c.721_722insT NP_001395419.1:p.Glu241Valfs frameshift NM_001408491.1:c.721_722insT NP_001395420.1:p.Glu241Valfs frameshift NM_001408492.1:c.721_722insT NP_001395421.1:p.Glu241Valfs frameshift NM_001408493.1:c.721_722insT NP_001395422.1:p.Glu241Valfs frameshift NM_001408494.1:c.694_695insT NP_001395423.1:p.Glu232Valfs frameshift NM_001408495.1:c.691_692insT NP_001395424.1:p.Glu231Valfs frameshift NM_001408496.1:c.670_671insT NP_001395425.1:p.Glu224Valfs frameshift NM_001408497.1:c.670_671insT NP_001395426.1:p.Glu224Valfs frameshift NM_001408498.1:c.670_671insT NP_001395427.1:p.Glu224Valfs frameshift NM_001408499.1:c.670_671insT NP_001395428.1:p.Glu224Valfs frameshift NM_001408500.1:c.670_671insT NP_001395429.1:p.Glu224Valfs frameshift NM_001408501.1:c.670_671insT NP_001395430.1:p.Glu224Valfs frameshift NM_001408502.1:c.601_602insT NP_001395431.1:p.Glu201Valfs frameshift NM_001408503.1:c.667_668insT NP_001395432.1:p.Glu223Valfs frameshift NM_001408504.1:c.667_668insT NP_001395433.1:p.Glu223Valfs frameshift NM_001408505.1:c.667_668insT NP_001395434.1:p.Glu223Valfs frameshift NM_001408506.1:c.607_608insT NP_001395435.1:p.Glu203Valfs frameshift NM_001408507.1:c.604_605insT NP_001395436.1:p.Glu202Valfs frameshift NM_001408508.1:c.595_596insT NP_001395437.1:p.Glu199Valfs frameshift NM_001408509.1:c.595_596insT NP_001395438.1:p.Glu199Valfs frameshift NM_001408510.1:c.553_554insT NP_001395439.1:p.Glu185Valfs frameshift NM_001408511.1:c.550_551insT NP_001395440.1:p.Glu184Valfs frameshift NM_001408512.1:c.430_431insT NP_001395441.1:p.Glu144Valfs frameshift NM_001408513.1:c.721_722insT NP_001395442.1:p.Glu241Valfs frameshift NM_001408514.1:c.724_725insT NP_001395443.1:p.Glu242Valfs frameshift NM_007297.4:c.4102_4103insT NP_009228.2:p.Glu1368fs frameshift NM_007298.4:c.934_935insT NP_009229.2:p.Glu312Valfs frameshift NM_007299.4:c.934_935insT NP_009230.2:p.Glu312fs frameshift NM_007300.4:c.4243_4244insT NP_009231.2:p.Glu1415fs frameshift NM_007304.2:c.934_935insT NP_009235.2:p.Glu312Valfs frameshift NR_027676.2:n.4420_4421insT non-coding transcript variant NC_000017.11:g.43082517_43082518insA NC_000017.10:g.41234534_41234535insA NG_005905.2:g.135466_135467insT LRG_292:g.135466_135467insT LRG_292t1:c.4243_4244insT LRG_292p1:p.Glu1415Valfs - Protein change
- E312fs, E1368fs, E1415fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43082517::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. |
|---|---|---|---|---|
| Pathogenic (1) |
reviewed by expert panel
|
Dec 15, 2017 | RCV000661259.2 |
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: SCV000783523.1 First in ClinVar: Jul 13, 2018 Last updated: Jul 13, 2018 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
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 rs1555584178 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Oct 08, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.