ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4317dup (p.Glu1440Ter)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4317dup (p.Glu1440Ter)
Variation ID: 2573280 Accession: VCV002573280.1
- Type and length
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Duplication, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43082443-43082444 (GRCh38) [ NCBI UCSC ] 17: 41234460-41234461 (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 Jul 29, 2023 Jul 29, 2023 Apr 18, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4317dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu1440Ter nonsense NM_001407571.1:c.4104dup NP_001394500.1:p.Glu1369Ter nonsense NM_001407581.1:c.4317dup NP_001394510.1:p.Glu1440Ter nonsense NM_001407582.1:c.4317dup NP_001394511.1:p.Glu1440Ter nonsense NM_001407583.1:c.4317dup NP_001394512.1:p.Glu1440Ter nonsense NM_001407585.1:c.4317dup NP_001394514.1:p.Glu1440Ter nonsense NM_001407587.1:c.4314dup NP_001394516.1:p.Glu1439Ter nonsense NM_001407590.1:c.4314dup NP_001394519.1:p.Glu1439Ter nonsense NM_001407591.1:c.4314dup NP_001394520.1:p.Glu1439Ter nonsense NM_001407593.1:c.4317dup NP_001394522.1:p.Glu1440Ter nonsense NM_001407594.1:c.4317dup NP_001394523.1:p.Glu1440Ter nonsense NM_001407596.1:c.4317dup NP_001394525.1:p.Glu1440Ter nonsense NM_001407597.1:c.4317dup NP_001394526.1:p.Glu1440Ter nonsense NM_001407598.1:c.4317dup NP_001394527.1:p.Glu1440Ter nonsense NM_001407602.1:c.4317dup NP_001394531.1:p.Glu1440Ter nonsense NM_001407603.1:c.4317dup NP_001394532.1:p.Glu1440Ter nonsense NM_001407605.1:c.4317dup NP_001394534.1:p.Glu1440Ter nonsense NM_001407610.1:c.4314dup NP_001394539.1:p.Glu1439Ter nonsense NM_001407611.1:c.4314dup NP_001394540.1:p.Glu1439Ter nonsense NM_001407612.1:c.4314dup NP_001394541.1:p.Glu1439Ter nonsense NM_001407613.1:c.4314dup NP_001394542.1:p.Glu1439Ter nonsense NM_001407614.1:c.4314dup NP_001394543.1:p.Glu1439Ter nonsense NM_001407615.1:c.4314dup NP_001394544.1:p.Glu1439Ter nonsense NM_001407616.1:c.4317dup NP_001394545.1:p.Glu1440Ter nonsense NM_001407617.1:c.4317dup NP_001394546.1:p.Glu1440Ter nonsense NM_001407618.1:c.4317dup NP_001394547.1:p.Glu1440Ter nonsense NM_001407619.1:c.4317dup NP_001394548.1:p.Glu1440Ter nonsense NM_001407620.1:c.4317dup NP_001394549.1:p.Glu1440Ter nonsense NM_001407621.1:c.4317dup NP_001394550.1:p.Glu1440Ter nonsense NM_001407622.1:c.4317dup NP_001394551.1:p.Glu1440Ter nonsense NM_001407623.1:c.4317dup NP_001394552.1:p.Glu1440Ter nonsense NM_001407624.1:c.4314dup NP_001394553.1:p.Glu1439Ter nonsense NM_001407625.1:c.4314dup NP_001394554.1:p.Glu1439Ter nonsense NM_001407626.1:c.4314dup NP_001394555.1:p.Glu1439Ter nonsense NM_001407627.1:c.4311dup NP_001394556.1:p.Glu1438Ter nonsense NM_001407628.1:c.4311dup NP_001394557.1:p.Glu1438Ter nonsense NM_001407629.1:c.4311dup NP_001394558.1:p.Glu1438Ter nonsense NM_001407630.1:c.4311dup NP_001394559.1:p.Glu1438Ter nonsense NM_001407631.1:c.4311dup NP_001394560.1:p.Glu1438Ter nonsense NM_001407632.1:c.4311dup NP_001394561.1:p.Glu1438Ter nonsense NM_001407633.1:c.4314dup NP_001394562.1:p.Glu1439Ter nonsense NM_001407634.1:c.4314dup NP_001394563.1:p.Glu1439Ter nonsense NM_001407635.1:c.4314dup NP_001394564.1:p.Glu1439Ter nonsense NM_001407636.1:c.4314dup NP_001394565.1:p.Glu1439Ter nonsense NM_001407637.1:c.4314dup NP_001394566.1:p.Glu1439Ter nonsense NM_001407638.1:c.4314dup NP_001394567.1:p.Glu1439Ter nonsense NM_001407639.1:c.4314dup NP_001394568.1:p.Glu1439Ter nonsense NM_001407640.1:c.4314dup NP_001394569.1:p.Glu1439Ter nonsense NM_001407641.1:c.4314dup NP_001394570.1:p.Glu1439Ter nonsense NM_001407642.1:c.4314dup NP_001394571.1:p.Glu1439Ter nonsense NM_001407644.1:c.4311dup NP_001394573.1:p.Glu1438Ter nonsense NM_001407645.1:c.4311dup NP_001394574.1:p.Glu1438Ter nonsense NM_001407646.1:c.4305dup NP_001394575.1:p.Glu1436Ter nonsense NM_001407647.1:c.4305dup NP_001394576.1:p.Glu1436Ter nonsense NM_001407648.1:c.4194dup NP_001394577.1:p.Glu1399Ter nonsense NM_001407649.1:c.4191dup NP_001394578.1:p.Glu1398Ter nonsense NM_001407652.1:c.4317dup NP_001394581.1:p.Glu1440Ter nonsense NM_001407653.1:c.4239dup NP_001394582.1:p.Glu1414Ter nonsense NM_001407654.1:c.4239dup NP_001394583.1:p.Glu1414Ter nonsense NM_001407655.1:c.4239dup NP_001394584.1:p.Glu1414Ter nonsense NM_001407656.1:c.4236dup NP_001394585.1:p.Glu1413Ter nonsense NM_001407657.1:c.4239dup NP_001394586.1:p.Glu1414Ter nonsense NM_001407658.1:c.4239dup NP_001394587.1:p.Glu1414Ter nonsense NM_001407659.1:c.4233dup NP_001394588.1:p.Glu1412Ter nonsense NM_001407660.1:c.4233dup NP_001394589.1:p.Glu1412Ter nonsense NM_001407661.1:c.4236dup NP_001394590.1:p.Glu1413Ter nonsense NM_001407662.1:c.4236dup NP_001394591.1:p.Glu1413Ter nonsense NM_001407663.1:c.4236dup NP_001394592.1:p.Glu1413Ter nonsense NM_001407664.1:c.4194dup NP_001394593.1:p.Glu1399Ter nonsense NM_001407665.1:c.4194dup NP_001394594.1:p.Glu1399Ter nonsense NM_001407666.1:c.4194dup NP_001394595.1:p.Glu1399Ter nonsense NM_001407667.1:c.4194dup NP_001394596.1:p.Glu1399Ter nonsense NM_001407668.1:c.4194dup NP_001394597.1:p.Glu1399Ter nonsense NM_001407669.1:c.4194dup NP_001394598.1:p.Glu1399Ter nonsense NM_001407670.1:c.4191dup NP_001394599.1:p.Glu1398Ter nonsense NM_001407671.1:c.4191dup NP_001394600.1:p.Glu1398Ter nonsense NM_001407672.1:c.4191dup NP_001394601.1:p.Glu1398Ter nonsense NM_001407673.1:c.4191dup NP_001394602.1:p.Glu1398Ter nonsense NM_001407674.1:c.4191dup NP_001394603.1:p.Glu1398Ter nonsense NM_001407675.1:c.4191dup NP_001394604.1:p.Glu1398Ter nonsense NM_001407676.1:c.4191dup NP_001394605.1:p.Glu1398Ter nonsense NM_001407677.1:c.4194dup NP_001394606.1:p.Glu1399Ter nonsense NM_001407678.1:c.4194dup NP_001394607.1:p.Glu1399Ter nonsense NM_001407679.1:c.4194dup NP_001394608.1:p.Glu1399Ter nonsense NM_001407680.1:c.4194dup NP_001394609.1:p.Glu1399Ter nonsense NM_001407681.1:c.4191dup NP_001394610.1:p.Glu1398Ter nonsense NM_001407682.1:c.4191dup NP_001394611.1:p.Glu1398Ter nonsense NM_001407683.1:c.4191dup NP_001394612.1:p.Glu1398Ter nonsense NM_001407684.1:c.4317dup NP_001394613.1:p.Glu1440Ter nonsense NM_001407685.1:c.4188dup NP_001394614.1:p.Glu1397Ter nonsense NM_001407686.1:c.4188dup NP_001394615.1:p.Glu1397Ter nonsense NM_001407687.1:c.4188dup NP_001394616.1:p.Glu1397Ter nonsense NM_001407688.1:c.4191dup NP_001394617.1:p.Glu1398Ter nonsense NM_001407689.1:c.4191dup NP_001394618.1:p.Glu1398Ter nonsense NM_001407690.1:c.4188dup NP_001394619.1:p.Glu1397Ter nonsense NM_001407691.1:c.4188dup NP_001394620.1:p.Glu1397Ter nonsense NM_001407692.1:c.4176dup NP_001394621.1:p.Glu1393Ter nonsense NM_001407694.1:c.4176dup NP_001394623.1:p.Glu1393Ter nonsense NM_001407695.1:c.4176dup NP_001394624.1:p.Glu1393Ter nonsense NM_001407696.1:c.4176dup NP_001394625.1:p.Glu1393Ter nonsense NM_001407697.1:c.4176dup NP_001394626.1:p.Glu1393Ter nonsense NM_001407698.1:c.4176dup NP_001394627.1:p.Glu1393Ter nonsense NM_001407724.1:c.4176dup NP_001394653.1:p.Glu1393Ter nonsense NM_001407725.1:c.4176dup NP_001394654.1:p.Glu1393Ter nonsense NM_001407726.1:c.4176dup NP_001394655.1:p.Glu1393Ter nonsense NM_001407727.1:c.4176dup NP_001394656.1:p.Glu1393Ter nonsense NM_001407728.1:c.4176dup NP_001394657.1:p.Glu1393Ter nonsense NM_001407729.1:c.4176dup NP_001394658.1:p.Glu1393Ter nonsense NM_001407730.1:c.4176dup NP_001394659.1:p.Glu1393Ter nonsense NM_001407731.1:c.4176dup NP_001394660.1:p.Glu1393Ter nonsense NM_001407732.1:c.4176dup NP_001394661.1:p.Glu1393Ter nonsense NM_001407733.1:c.4176dup NP_001394662.1:p.Glu1393Ter nonsense NM_001407734.1:c.4176dup NP_001394663.1:p.Glu1393Ter nonsense NM_001407735.1:c.4176dup NP_001394664.1:p.Glu1393Ter nonsense NM_001407736.1:c.4176dup NP_001394665.1:p.Glu1393Ter nonsense NM_001407737.1:c.4176dup NP_001394666.1:p.Glu1393Ter nonsense NM_001407738.1:c.4176dup NP_001394667.1:p.Glu1393Ter nonsense NM_001407739.1:c.4176dup NP_001394668.1:p.Glu1393Ter nonsense NM_001407740.1:c.4173dup NP_001394669.1:p.Glu1392Ter nonsense NM_001407741.1:c.4173dup NP_001394670.1:p.Glu1392Ter nonsense NM_001407742.1:c.4173dup NP_001394671.1:p.Glu1392Ter nonsense NM_001407743.1:c.4173dup NP_001394672.1:p.Glu1392Ter nonsense NM_001407744.1:c.4173dup NP_001394673.1:p.Glu1392Ter nonsense NM_001407745.1:c.4173dup NP_001394674.1:p.Glu1392Ter nonsense NM_001407746.1:c.4173dup NP_001394675.1:p.Glu1392Ter nonsense NM_001407747.1:c.4173dup NP_001394676.1:p.Glu1392Ter nonsense NM_001407748.1:c.4173dup NP_001394677.1:p.Glu1392Ter nonsense NM_001407749.1:c.4173dup NP_001394678.1:p.Glu1392Ter nonsense NM_001407750.1:c.4173dup NP_001394679.1:p.Glu1392Ter nonsense NM_001407751.1:c.4173dup NP_001394680.1:p.Glu1392Ter nonsense NM_001407752.1:c.4173dup NP_001394681.1:p.Glu1392Ter nonsense NM_001407838.1:c.4173dup NP_001394767.1:p.Glu1392Ter nonsense NM_001407839.1:c.4173dup NP_001394768.1:p.Glu1392Ter nonsense NM_001407841.1:c.4173dup NP_001394770.1:p.Glu1392Ter nonsense NM_001407842.1:c.4173dup NP_001394771.1:p.Glu1392Ter nonsense NM_001407843.1:c.4173dup NP_001394772.1:p.Glu1392Ter nonsense NM_001407844.1:c.4173dup NP_001394773.1:p.Glu1392Ter nonsense NM_001407845.1:c.4173dup NP_001394774.1:p.Glu1392Ter nonsense NM_001407846.1:c.4173dup NP_001394775.1:p.Glu1392Ter nonsense NM_001407847.1:c.4170dup NP_001394776.1:p.Glu1391Ter nonsense NM_001407848.1:c.4170dup NP_001394777.1:p.Glu1391Ter nonsense NM_001407849.1:c.4170dup NP_001394778.1:p.Glu1391Ter nonsense NM_001407850.1:c.4173dup NP_001394779.1:p.Glu1392Ter nonsense NM_001407851.1:c.4173dup NP_001394780.1:p.Glu1392Ter nonsense NM_001407852.1:c.4173dup NP_001394781.1:p.Glu1392Ter nonsense NM_001407853.1:c.4104dup NP_001394782.1:p.Glu1369Ter nonsense NM_001407854.1:c.4317dup NP_001394783.1:p.Glu1440Ter nonsense NM_001407858.1:c.4317dup NP_001394787.1:p.Glu1440Ter nonsense NM_001407859.1:c.4317dup NP_001394788.1:p.Glu1440Ter nonsense NM_001407860.1:c.4314dup NP_001394789.1:p.Glu1439Ter nonsense NM_001407861.1:c.4314dup NP_001394790.1:p.Glu1439Ter nonsense NM_001407862.1:c.4116dup NP_001394791.1:p.Glu1373Ter nonsense NM_001407863.1:c.4194dup NP_001394792.1:p.Glu1399Ter nonsense NM_001407874.1:c.4113dup NP_001394803.1:p.Glu1372Ter nonsense NM_001407875.1:c.4113dup NP_001394804.1:p.Glu1372Ter nonsense NM_001407879.1:c.4107dup NP_001394808.1:p.Glu1370Ter nonsense NM_001407881.1:c.4107dup NP_001394810.1:p.Glu1370Ter nonsense NM_001407882.1:c.4107dup NP_001394811.1:p.Glu1370Ter nonsense NM_001407884.1:c.4107dup NP_001394813.1:p.Glu1370Ter nonsense NM_001407885.1:c.4107dup NP_001394814.1:p.Glu1370Ter nonsense NM_001407886.1:c.4107dup NP_001394815.1:p.Glu1370Ter nonsense NM_001407887.1:c.4107dup NP_001394816.1:p.Glu1370Ter nonsense NM_001407889.1:c.4107dup NP_001394818.1:p.Glu1370Ter nonsense NM_001407894.1:c.4104dup NP_001394823.1:p.Glu1369Ter nonsense NM_001407895.1:c.4104dup NP_001394824.1:p.Glu1369Ter nonsense NM_001407896.1:c.4104dup NP_001394825.1:p.Glu1369Ter nonsense NM_001407897.1:c.4104dup NP_001394826.1:p.Glu1369Ter nonsense NM_001407898.1:c.4104dup NP_001394827.1:p.Glu1369Ter nonsense NM_001407899.1:c.4104dup NP_001394828.1:p.Glu1369Ter nonsense NM_001407900.1:c.4107dup NP_001394829.1:p.Glu1370Ter nonsense NM_001407902.1:c.4107dup NP_001394831.1:p.Glu1370Ter nonsense NM_001407904.1:c.4107dup NP_001394833.1:p.Glu1370Ter nonsense NM_001407906.1:c.4107dup NP_001394835.1:p.Glu1370Ter nonsense NM_001407907.1:c.4104dup NP_001394836.1:p.Glu1369Ter nonsense NM_001407908.1:c.4104dup NP_001394837.1:p.Glu1369Ter nonsense NM_001407909.1:c.4104dup NP_001394838.1:p.Glu1369Ter nonsense NM_001407910.1:c.4104dup NP_001394839.1:p.Glu1369Ter nonsense NM_001407915.1:c.4101dup NP_001394844.1:p.Glu1368Ter nonsense NM_001407916.1:c.4104dup NP_001394845.1:p.Glu1369Ter nonsense NM_001407917.1:c.4104dup NP_001394846.1:p.Glu1369Ter nonsense NM_001407918.1:c.4104dup NP_001394847.1:p.Glu1369Ter nonsense NM_001407919.1:c.4194dup NP_001394848.1:p.Glu1399Ter nonsense NM_001407920.1:c.4053dup NP_001394849.1:p.Glu1352Ter nonsense NM_001407921.1:c.4053dup NP_001394850.1:p.Glu1352Ter nonsense NM_001407922.1:c.4053dup NP_001394851.1:p.Glu1352Ter nonsense NM_001407923.1:c.4053dup NP_001394852.1:p.Glu1352Ter nonsense NM_001407924.1:c.4053dup NP_001394853.1:p.Glu1352Ter nonsense NM_001407925.1:c.4053dup NP_001394854.1:p.Glu1352Ter nonsense NM_001407926.1:c.4053dup NP_001394855.1:p.Glu1352Ter nonsense NM_001407927.1:c.4053dup NP_001394856.1:p.Glu1352Ter nonsense NM_001407928.1:c.4053dup NP_001394857.1:p.Glu1352Ter nonsense NM_001407929.1:c.4053dup NP_001394858.1:p.Glu1352Ter nonsense NM_001407930.1:c.4050dup NP_001394859.1:p.Glu1351Ter nonsense NM_001407931.1:c.4050dup NP_001394860.1:p.Glu1351Ter nonsense NM_001407932.1:c.4050dup NP_001394861.1:p.Glu1351Ter nonsense NM_001407933.1:c.4050dup NP_001394862.1:p.Glu1351Ter nonsense NM_001407934.1:c.4047dup NP_001394863.1:p.Glu1350Ter nonsense NM_001407935.1:c.4050dup NP_001394864.1:p.Glu1351Ter nonsense NM_001407936.1:c.4050dup NP_001394865.1:p.Glu1351Ter nonsense NM_001407937.1:c.4194dup NP_001394866.1:p.Glu1399Ter nonsense NM_001407938.1:c.4194dup NP_001394867.1:p.Glu1399Ter nonsense NM_001407939.1:c.4194dup NP_001394868.1:p.Glu1399Ter nonsense NM_001407940.1:c.4191dup NP_001394869.1:p.Glu1398Ter nonsense NM_001407941.1:c.4191dup NP_001394870.1:p.Glu1398Ter nonsense NM_001407942.1:c.4176dup NP_001394871.1:p.Glu1393Ter nonsense NM_001407943.1:c.4173dup NP_001394872.1:p.Glu1392Ter nonsense NM_001407944.1:c.4176dup NP_001394873.1:p.Glu1393Ter nonsense NM_001407945.1:c.4176dup NP_001394874.1:p.Glu1393Ter nonsense NM_001407946.1:c.3984dup NP_001394875.1:p.Glu1329Ter nonsense NM_001407947.1:c.3984dup NP_001394876.1:p.Glu1329Ter nonsense NM_001407948.1:c.3984dup NP_001394877.1:p.Glu1329Ter nonsense NM_001407949.1:c.3984dup NP_001394878.1:p.Glu1329Ter nonsense NM_001407950.1:c.3984dup NP_001394879.1:p.Glu1329Ter nonsense NM_001407951.1:c.3984dup NP_001394880.1:p.Glu1329Ter nonsense NM_001407952.1:c.3981dup NP_001394881.1:p.Glu1328Ter nonsense NM_001407953.1:c.3981dup NP_001394882.1:p.Glu1328Ter nonsense NM_001407954.1:c.3981dup NP_001394883.1:p.Glu1328Ter nonsense NM_001407955.1:c.3981dup NP_001394884.1:p.Glu1328Ter nonsense NM_001407956.1:c.3978dup NP_001394885.1:p.Glu1327Ter nonsense NM_001407957.1:c.3981dup NP_001394886.1:p.Glu1328Ter nonsense NM_001407958.1:c.3981dup NP_001394887.1:p.Glu1328Ter nonsense NM_001407959.1:c.3936dup NP_001394888.1:p.Glu1313Ter nonsense NM_001407960.1:c.3936dup NP_001394889.1:p.Glu1313Ter nonsense NM_001407962.1:c.3933dup NP_001394891.1:p.Glu1312Ter nonsense NM_001407963.1:c.3933dup NP_001394892.1:p.Glu1312Ter nonsense NM_001407964.1:c.4173dup NP_001394893.1:p.Glu1392Ter nonsense NM_001407965.1:c.3810dup NP_001394894.1:p.Glu1271Ter nonsense NM_001407966.1:c.3429dup NP_001394895.1:p.Glu1144Ter nonsense NM_001407967.1:c.3429dup NP_001394896.1:p.Glu1144Ter nonsense NM_001407968.1:c.1713dup NP_001394897.1:p.Glu572Ter nonsense NM_001407969.1:c.1710dup NP_001394898.1:p.Glu571Ter nonsense NM_001407970.1:c.1008dup NP_001394899.1:p.Glu337Ter nonsense NM_001407971.1:c.1008dup NP_001394900.1:p.Glu337Ter nonsense NM_001407972.1:c.1005dup NP_001394901.1:p.Glu336Ter nonsense NM_001407973.1:c.1008dup NP_001394902.1:p.Glu337Ter nonsense NM_001407974.1:c.1008dup NP_001394903.1:p.Glu337Ter nonsense NM_001407975.1:c.1008dup NP_001394904.1:p.Glu337Ter nonsense NM_001407976.1:c.1008dup NP_001394905.1:p.Glu337Ter nonsense NM_001407977.1:c.1008dup NP_001394906.1:p.Glu337Ter nonsense NM_001407978.1:c.1008dup NP_001394907.1:p.Glu337Ter nonsense NM_001407979.1:c.1005dup NP_001394908.1:p.Glu336Ter nonsense NM_001407980.1:c.1005dup NP_001394909.1:p.Glu336Ter nonsense NM_001407981.1:c.1005dup NP_001394910.1:p.Glu336Ter nonsense NM_001407982.1:c.1005dup NP_001394911.1:p.Glu336Ter nonsense NM_001407983.1:c.1005dup NP_001394912.1:p.Glu336Ter nonsense NM_001407984.1:c.1005dup NP_001394913.1:p.Glu336Ter nonsense NM_001407985.1:c.1005dup NP_001394914.1:p.Glu336Ter nonsense NM_001407986.1:c.1005dup NP_001394915.1:p.Glu336Ter nonsense NM_001407990.1:c.1005dup NP_001394919.1:p.Glu336Ter nonsense NM_001407991.1:c.1005dup NP_001394920.1:p.Glu336Ter nonsense NM_001407992.1:c.1005dup NP_001394921.1:p.Glu336Ter nonsense NM_001407993.1:c.1008dup NP_001394922.1:p.Glu337Ter nonsense NM_001408392.1:c.1005dup NP_001395321.1:p.Glu336Ter nonsense NM_001408396.1:c.1005dup NP_001395325.1:p.Glu336Ter nonsense NM_001408397.1:c.1005dup NP_001395326.1:p.Glu336Ter nonsense NM_001408398.1:c.1005dup NP_001395327.1:p.Glu336Ter nonsense NM_001408399.1:c.1005dup NP_001395328.1:p.Glu336Ter nonsense NM_001408400.1:c.1002dup NP_001395329.1:p.Glu335Ter nonsense NM_001408401.1:c.1002dup NP_001395330.1:p.Glu335Ter nonsense NM_001408402.1:c.1002dup NP_001395331.1:p.Glu335Ter nonsense NM_001408403.1:c.1005dup NP_001395332.1:p.Glu336Ter nonsense NM_001408404.1:c.1005dup NP_001395333.1:p.Glu336Ter nonsense NM_001408406.1:c.999dup NP_001395335.1:p.Glu334Ter nonsense NM_001408407.1:c.1002dup NP_001395336.1:p.Glu335Ter nonsense NM_001408408.1:c.999dup NP_001395337.1:p.Glu334Ter nonsense NM_001408409.1:c.930dup NP_001395338.1:p.Glu311Ter nonsense NM_001408410.1:c.867dup NP_001395339.1:p.Glu290Ter nonsense NM_001408411.1:c.930dup NP_001395340.1:p.Glu311Ter nonsense NM_001408412.1:c.930dup NP_001395341.1:p.Glu311Ter nonsense NM_001408413.1:c.927dup NP_001395342.1:p.Glu310Ter nonsense NM_001408414.1:c.930dup NP_001395343.1:p.Glu311Ter nonsense NM_001408415.1:c.930dup NP_001395344.1:p.Glu311Ter nonsense NM_001408416.1:c.927dup NP_001395345.1:p.Glu310Ter nonsense NM_001408418.1:c.891dup NP_001395347.1:p.Glu298Ter nonsense NM_001408419.1:c.891dup NP_001395348.1:p.Glu298Ter nonsense NM_001408420.1:c.891dup NP_001395349.1:p.Glu298Ter nonsense NM_001408421.1:c.888dup NP_001395350.1:p.Glu297Ter nonsense NM_001408422.1:c.891dup NP_001395351.1:p.Glu298Ter nonsense NM_001408423.1:c.891dup NP_001395352.1:p.Glu298Ter nonsense NM_001408424.1:c.888dup NP_001395353.1:p.Glu297Ter nonsense NM_001408425.1:c.885dup NP_001395354.1:p.Glu296Ter nonsense NM_001408426.1:c.885dup NP_001395355.1:p.Glu296Ter nonsense NM_001408427.1:c.885dup NP_001395356.1:p.Glu296Ter nonsense NM_001408428.1:c.885dup NP_001395357.1:p.Glu296Ter nonsense NM_001408429.1:c.885dup NP_001395358.1:p.Glu296Ter nonsense NM_001408430.1:c.885dup NP_001395359.1:p.Glu296Ter nonsense NM_001408431.1:c.888dup NP_001395360.1:p.Glu297Ter nonsense NM_001408432.1:c.882dup NP_001395361.1:p.Glu295Ter nonsense NM_001408433.1:c.882dup NP_001395362.1:p.Glu295Ter nonsense NM_001408434.1:c.882dup NP_001395363.1:p.Glu295Ter nonsense NM_001408435.1:c.882dup NP_001395364.1:p.Glu295Ter nonsense NM_001408436.1:c.885dup NP_001395365.1:p.Glu296Ter nonsense NM_001408437.1:c.885dup NP_001395366.1:p.Glu296Ter nonsense NM_001408438.1:c.885dup NP_001395367.1:p.Glu296Ter nonsense NM_001408439.1:c.885dup NP_001395368.1:p.Glu296Ter nonsense NM_001408440.1:c.885dup NP_001395369.1:p.Glu296Ter nonsense NM_001408441.1:c.882dup NP_001395370.1:p.Glu295Ter nonsense NM_001408442.1:c.882dup NP_001395371.1:p.Glu295Ter nonsense NM_001408443.1:c.882dup NP_001395372.1:p.Glu295Ter nonsense NM_001408444.1:c.882dup NP_001395373.1:p.Glu295Ter nonsense NM_001408445.1:c.882dup NP_001395374.1:p.Glu295Ter nonsense NM_001408446.1:c.882dup NP_001395375.1:p.Glu295Ter nonsense NM_001408447.1:c.882dup NP_001395376.1:p.Glu295Ter nonsense NM_001408448.1:c.882dup NP_001395377.1:p.Glu295Ter nonsense NM_001408450.1:c.882dup NP_001395379.1:p.Glu295Ter nonsense NM_001408451.1:c.873dup NP_001395380.1:p.Glu292Ter nonsense NM_001408452.1:c.867dup NP_001395381.1:p.Glu290Ter nonsense NM_001408453.1:c.867dup NP_001395382.1:p.Glu290Ter nonsense NM_001408454.1:c.867dup NP_001395383.1:p.Glu290Ter nonsense NM_001408455.1:c.867dup NP_001395384.1:p.Glu290Ter nonsense NM_001408456.1:c.867dup NP_001395385.1:p.Glu290Ter nonsense NM_001408457.1:c.867dup NP_001395386.1:p.Glu290Ter nonsense NM_001408458.1:c.867dup NP_001395387.1:p.Glu290Ter nonsense NM_001408459.1:c.867dup NP_001395388.1:p.Glu290Ter nonsense NM_001408460.1:c.867dup NP_001395389.1:p.Glu290Ter nonsense NM_001408461.1:c.867dup NP_001395390.1:p.Glu290Ter nonsense NM_001408462.1:c.864dup NP_001395391.1:p.Glu289Ter nonsense NM_001408463.1:c.864dup NP_001395392.1:p.Glu289Ter nonsense NM_001408464.1:c.864dup NP_001395393.1:p.Glu289Ter nonsense NM_001408465.1:c.864dup NP_001395394.1:p.Glu289Ter nonsense NM_001408466.1:c.864dup NP_001395395.1:p.Glu289Ter nonsense NM_001408467.1:c.864dup NP_001395396.1:p.Glu289Ter nonsense NM_001408468.1:c.864dup NP_001395397.1:p.Glu289Ter nonsense NM_001408469.1:c.864dup NP_001395398.1:p.Glu289Ter nonsense NM_001408470.1:c.861dup NP_001395399.1:p.Glu288Ter nonsense NM_001408472.1:c.1005dup NP_001395401.1:p.Glu336Ter nonsense NM_001408473.1:c.1005dup NP_001395402.1:p.Glu336Ter nonsense NM_001408474.1:c.807dup NP_001395403.1:p.Glu270Ter nonsense NM_001408475.1:c.804dup NP_001395404.1:p.Glu269Ter nonsense NM_001408476.1:c.807dup NP_001395405.1:p.Glu270Ter nonsense NM_001408478.1:c.798dup NP_001395407.1:p.Glu267Ter nonsense NM_001408479.1:c.798dup NP_001395408.1:p.Glu267Ter nonsense NM_001408480.1:c.798dup NP_001395409.1:p.Glu267Ter nonsense NM_001408481.1:c.798dup NP_001395410.1:p.Glu267Ter nonsense NM_001408482.1:c.798dup NP_001395411.1:p.Glu267Ter nonsense NM_001408483.1:c.798dup NP_001395412.1:p.Glu267Ter nonsense NM_001408484.1:c.798dup NP_001395413.1:p.Glu267Ter nonsense NM_001408485.1:c.798dup NP_001395414.1:p.Glu267Ter nonsense NM_001408489.1:c.795dup NP_001395418.1:p.Glu266Ter nonsense NM_001408490.1:c.795dup NP_001395419.1:p.Glu266Ter nonsense NM_001408491.1:c.795dup NP_001395420.1:p.Glu266Ter nonsense NM_001408492.1:c.795dup NP_001395421.1:p.Glu266Ter nonsense NM_001408493.1:c.795dup NP_001395422.1:p.Glu266Ter nonsense NM_001408494.1:c.768dup NP_001395423.1:p.Glu257Ter nonsense NM_001408495.1:c.765dup NP_001395424.1:p.Glu256Ter nonsense NM_001408496.1:c.744dup NP_001395425.1:p.Glu249Ter nonsense NM_001408497.1:c.744dup NP_001395426.1:p.Glu249Ter nonsense NM_001408498.1:c.744dup NP_001395427.1:p.Glu249Ter nonsense NM_001408499.1:c.744dup NP_001395428.1:p.Glu249Ter nonsense NM_001408500.1:c.744dup NP_001395429.1:p.Glu249Ter nonsense NM_001408501.1:c.744dup NP_001395430.1:p.Glu249Ter nonsense NM_001408502.1:c.675dup NP_001395431.1:p.Glu226Ter nonsense NM_001408503.1:c.741dup NP_001395432.1:p.Glu248Ter nonsense NM_001408504.1:c.741dup NP_001395433.1:p.Glu248Ter nonsense NM_001408505.1:c.741dup NP_001395434.1:p.Glu248Ter nonsense NM_001408506.1:c.681dup NP_001395435.1:p.Glu228Ter nonsense NM_001408507.1:c.678dup NP_001395436.1:p.Glu227Ter nonsense NM_001408508.1:c.669dup NP_001395437.1:p.Glu224Ter nonsense NM_001408509.1:c.669dup NP_001395438.1:p.Glu224Ter nonsense NM_001408510.1:c.627dup NP_001395439.1:p.Glu210Ter nonsense NM_001408511.1:c.624dup NP_001395440.1:p.Glu209Ter nonsense NM_001408512.1:c.504dup NP_001395441.1:p.Glu169Ter nonsense NM_001408513.1:c.795dup NP_001395442.1:p.Glu266Ter nonsense NM_001408514.1:c.798dup NP_001395443.1:p.Glu267Ter nonsense NM_007297.4:c.4176dup NP_009228.2:p.Glu1393Ter nonsense NM_007298.4:c.1008dup NP_009229.2:p.Glu337Ter nonsense NM_007299.4:c.1008dup NP_009230.2:p.Glu337Ter nonsense NM_007300.4:c.4317dup NP_009231.2:p.Glu1440Ter nonsense NM_007304.2:c.1007dup NP_009235.2:p.Glu337Terfs frameshift nonsense NR_027676.2:n.4493dup NC_000017.11:g.43082445dup NC_000017.10:g.41234462dup NG_005905.2:g.135540dup LRG_292:g.135540dup LRG_292t1:c.4316dup LRG_292p1:p.Glu1440Terfs - Protein change
- E1144*, E1271*, E1312*, E1313*, E1327*, E1328*, E1329*, E1350*, E1351*, E1352*, E1368*, E1369*, E1370*, E1372*, E1373*, E1391*, E1392*, E1393*, E1397*, E1398*, E1399*, E1412*, E1413*, E1414*, E1436*, E1438*, E1439*, E1440*, E169*, E209*, E210*, E224*, E226*, E227*, E228*, E248*, E249*, E256*, E257*, E266*, E267*, E269*, E270*, E288*, E289*, E290*, E292*, E295*, E296*, E297*, E298*, E310*, E311*, E334*, E335*, E336*, E337*, E571*, E572*
- Other names
- -
- Canonical SPDI
- NC_000017.11:43082443:AA:AAA
-
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 |
12894 | 14680 |
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) |
criteria provided, single submitter
|
Apr 18, 2023 | RCV003316969.1 |
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
(Apr 18, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Myriad Genetics, Inc.
Accession: SCV004018503.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
Comment:
This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
|
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 this variant ...
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.