ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4249G>T (p.Val1417Leu)
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.4249G>T (p.Val1417Leu)
Variation ID: 1739051 Accession: VCV001739051.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43082512 (GRCh38) [ NCBI UCSC ] 17: 41234529 (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 Nov 29, 2022 May 1, 2024 Feb 18, 2022 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4249G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Val1417Leu missense NM_001407571.1:c.4036G>T NP_001394500.1:p.Val1346Leu missense NM_001407581.1:c.4249G>T NP_001394510.1:p.Val1417Leu missense NM_001407582.1:c.4249G>T NP_001394511.1:p.Val1417Leu missense NM_001407583.1:c.4249G>T NP_001394512.1:p.Val1417Leu missense NM_001407585.1:c.4249G>T NP_001394514.1:p.Val1417Leu missense NM_001407587.1:c.4246G>T NP_001394516.1:p.Val1416Leu missense NM_001407590.1:c.4246G>T NP_001394519.1:p.Val1416Leu missense NM_001407591.1:c.4246G>T NP_001394520.1:p.Val1416Leu missense NM_001407593.1:c.4249G>T NP_001394522.1:p.Val1417Leu missense NM_001407594.1:c.4249G>T NP_001394523.1:p.Val1417Leu missense NM_001407596.1:c.4249G>T NP_001394525.1:p.Val1417Leu missense NM_001407597.1:c.4249G>T NP_001394526.1:p.Val1417Leu missense NM_001407598.1:c.4249G>T NP_001394527.1:p.Val1417Leu missense NM_001407602.1:c.4249G>T NP_001394531.1:p.Val1417Leu missense NM_001407603.1:c.4249G>T NP_001394532.1:p.Val1417Leu missense NM_001407605.1:c.4249G>T NP_001394534.1:p.Val1417Leu missense NM_001407610.1:c.4246G>T NP_001394539.1:p.Val1416Leu missense NM_001407611.1:c.4246G>T NP_001394540.1:p.Val1416Leu missense NM_001407612.1:c.4246G>T NP_001394541.1:p.Val1416Leu missense NM_001407613.1:c.4246G>T NP_001394542.1:p.Val1416Leu missense NM_001407614.1:c.4246G>T NP_001394543.1:p.Val1416Leu missense NM_001407615.1:c.4246G>T NP_001394544.1:p.Val1416Leu missense NM_001407616.1:c.4249G>T NP_001394545.1:p.Val1417Leu missense NM_001407617.1:c.4249G>T NP_001394546.1:p.Val1417Leu missense NM_001407618.1:c.4249G>T NP_001394547.1:p.Val1417Leu missense NM_001407619.1:c.4249G>T NP_001394548.1:p.Val1417Leu missense NM_001407620.1:c.4249G>T NP_001394549.1:p.Val1417Leu missense NM_001407621.1:c.4249G>T NP_001394550.1:p.Val1417Leu missense NM_001407622.1:c.4249G>T NP_001394551.1:p.Val1417Leu missense NM_001407623.1:c.4249G>T NP_001394552.1:p.Val1417Leu missense NM_001407624.1:c.4246G>T NP_001394553.1:p.Val1416Leu missense NM_001407625.1:c.4246G>T NP_001394554.1:p.Val1416Leu missense NM_001407626.1:c.4246G>T NP_001394555.1:p.Val1416Leu missense NM_001407627.1:c.4243G>T NP_001394556.1:p.Val1415Leu missense NM_001407628.1:c.4243G>T NP_001394557.1:p.Val1415Leu missense NM_001407629.1:c.4243G>T NP_001394558.1:p.Val1415Leu missense NM_001407630.1:c.4243G>T NP_001394559.1:p.Val1415Leu missense NM_001407631.1:c.4243G>T NP_001394560.1:p.Val1415Leu missense NM_001407632.1:c.4243G>T NP_001394561.1:p.Val1415Leu missense NM_001407633.1:c.4246G>T NP_001394562.1:p.Val1416Leu missense NM_001407634.1:c.4246G>T NP_001394563.1:p.Val1416Leu missense NM_001407635.1:c.4246G>T NP_001394564.1:p.Val1416Leu missense NM_001407636.1:c.4246G>T NP_001394565.1:p.Val1416Leu missense NM_001407637.1:c.4246G>T NP_001394566.1:p.Val1416Leu missense NM_001407638.1:c.4246G>T NP_001394567.1:p.Val1416Leu missense NM_001407639.1:c.4246G>T NP_001394568.1:p.Val1416Leu missense NM_001407640.1:c.4246G>T NP_001394569.1:p.Val1416Leu missense NM_001407641.1:c.4246G>T NP_001394570.1:p.Val1416Leu missense NM_001407642.1:c.4246G>T NP_001394571.1:p.Val1416Leu missense NM_001407644.1:c.4243G>T NP_001394573.1:p.Val1415Leu missense NM_001407645.1:c.4243G>T NP_001394574.1:p.Val1415Leu missense NM_001407646.1:c.4237G>T NP_001394575.1:p.Val1413Leu missense NM_001407647.1:c.4237G>T NP_001394576.1:p.Val1413Leu missense NM_001407648.1:c.4126G>T NP_001394577.1:p.Val1376Leu missense NM_001407649.1:c.4123G>T NP_001394578.1:p.Val1375Leu missense NM_001407652.1:c.4249G>T NP_001394581.1:p.Val1417Leu missense NM_001407653.1:c.4171G>T NP_001394582.1:p.Val1391Leu missense NM_001407654.1:c.4171G>T NP_001394583.1:p.Val1391Leu missense NM_001407655.1:c.4171G>T NP_001394584.1:p.Val1391Leu missense NM_001407656.1:c.4168G>T NP_001394585.1:p.Val1390Leu missense NM_001407657.1:c.4171G>T NP_001394586.1:p.Val1391Leu missense NM_001407658.1:c.4171G>T NP_001394587.1:p.Val1391Leu missense NM_001407659.1:c.4165G>T NP_001394588.1:p.Val1389Leu missense NM_001407660.1:c.4165G>T NP_001394589.1:p.Val1389Leu missense NM_001407661.1:c.4168G>T NP_001394590.1:p.Val1390Leu missense NM_001407662.1:c.4168G>T NP_001394591.1:p.Val1390Leu missense NM_001407663.1:c.4168G>T NP_001394592.1:p.Val1390Leu missense NM_001407664.1:c.4126G>T NP_001394593.1:p.Val1376Leu missense NM_001407665.1:c.4126G>T NP_001394594.1:p.Val1376Leu missense NM_001407666.1:c.4126G>T NP_001394595.1:p.Val1376Leu missense NM_001407667.1:c.4126G>T NP_001394596.1:p.Val1376Leu missense NM_001407668.1:c.4126G>T NP_001394597.1:p.Val1376Leu missense NM_001407669.1:c.4126G>T NP_001394598.1:p.Val1376Leu missense NM_001407670.1:c.4123G>T NP_001394599.1:p.Val1375Leu missense NM_001407671.1:c.4123G>T NP_001394600.1:p.Val1375Leu missense NM_001407672.1:c.4123G>T NP_001394601.1:p.Val1375Leu missense NM_001407673.1:c.4123G>T NP_001394602.1:p.Val1375Leu missense NM_001407674.1:c.4123G>T NP_001394603.1:p.Val1375Leu missense NM_001407675.1:c.4123G>T NP_001394604.1:p.Val1375Leu missense NM_001407676.1:c.4123G>T NP_001394605.1:p.Val1375Leu missense NM_001407677.1:c.4126G>T NP_001394606.1:p.Val1376Leu missense NM_001407678.1:c.4126G>T NP_001394607.1:p.Val1376Leu missense NM_001407679.1:c.4126G>T NP_001394608.1:p.Val1376Leu missense NM_001407680.1:c.4126G>T NP_001394609.1:p.Val1376Leu missense NM_001407681.1:c.4123G>T NP_001394610.1:p.Val1375Leu missense NM_001407682.1:c.4123G>T NP_001394611.1:p.Val1375Leu missense NM_001407683.1:c.4123G>T NP_001394612.1:p.Val1375Leu missense NM_001407684.1:c.4249G>T NP_001394613.1:p.Val1417Leu missense NM_001407685.1:c.4120G>T NP_001394614.1:p.Val1374Leu missense NM_001407686.1:c.4120G>T NP_001394615.1:p.Val1374Leu missense NM_001407687.1:c.4120G>T NP_001394616.1:p.Val1374Leu missense NM_001407688.1:c.4123G>T NP_001394617.1:p.Val1375Leu missense NM_001407689.1:c.4123G>T NP_001394618.1:p.Val1375Leu missense NM_001407690.1:c.4120G>T NP_001394619.1:p.Val1374Leu missense NM_001407691.1:c.4120G>T NP_001394620.1:p.Val1374Leu missense NM_001407692.1:c.4108G>T NP_001394621.1:p.Val1370Leu missense NM_001407694.1:c.4108G>T NP_001394623.1:p.Val1370Leu missense NM_001407695.1:c.4108G>T NP_001394624.1:p.Val1370Leu missense NM_001407696.1:c.4108G>T NP_001394625.1:p.Val1370Leu missense NM_001407697.1:c.4108G>T NP_001394626.1:p.Val1370Leu missense NM_001407698.1:c.4108G>T NP_001394627.1:p.Val1370Leu missense NM_001407724.1:c.4108G>T NP_001394653.1:p.Val1370Leu missense NM_001407725.1:c.4108G>T NP_001394654.1:p.Val1370Leu missense NM_001407726.1:c.4108G>T NP_001394655.1:p.Val1370Leu missense NM_001407727.1:c.4108G>T NP_001394656.1:p.Val1370Leu missense NM_001407728.1:c.4108G>T NP_001394657.1:p.Val1370Leu missense NM_001407729.1:c.4108G>T NP_001394658.1:p.Val1370Leu missense NM_001407730.1:c.4108G>T NP_001394659.1:p.Val1370Leu missense NM_001407731.1:c.4108G>T NP_001394660.1:p.Val1370Leu missense NM_001407732.1:c.4108G>T NP_001394661.1:p.Val1370Leu missense NM_001407733.1:c.4108G>T NP_001394662.1:p.Val1370Leu missense NM_001407734.1:c.4108G>T NP_001394663.1:p.Val1370Leu missense NM_001407735.1:c.4108G>T NP_001394664.1:p.Val1370Leu missense NM_001407736.1:c.4108G>T NP_001394665.1:p.Val1370Leu missense NM_001407737.1:c.4108G>T NP_001394666.1:p.Val1370Leu missense NM_001407738.1:c.4108G>T NP_001394667.1:p.Val1370Leu missense NM_001407739.1:c.4108G>T NP_001394668.1:p.Val1370Leu missense NM_001407740.1:c.4105G>T NP_001394669.1:p.Val1369Leu missense NM_001407741.1:c.4105G>T NP_001394670.1:p.Val1369Leu missense NM_001407742.1:c.4105G>T NP_001394671.1:p.Val1369Leu missense NM_001407743.1:c.4105G>T NP_001394672.1:p.Val1369Leu missense NM_001407744.1:c.4105G>T NP_001394673.1:p.Val1369Leu missense NM_001407745.1:c.4105G>T NP_001394674.1:p.Val1369Leu missense NM_001407746.1:c.4105G>T NP_001394675.1:p.Val1369Leu missense NM_001407747.1:c.4105G>T NP_001394676.1:p.Val1369Leu missense NM_001407748.1:c.4105G>T NP_001394677.1:p.Val1369Leu missense NM_001407749.1:c.4105G>T NP_001394678.1:p.Val1369Leu missense NM_001407750.1:c.4105G>T NP_001394679.1:p.Val1369Leu missense NM_001407751.1:c.4105G>T NP_001394680.1:p.Val1369Leu missense NM_001407752.1:c.4105G>T NP_001394681.1:p.Val1369Leu missense NM_001407838.1:c.4105G>T NP_001394767.1:p.Val1369Leu missense NM_001407839.1:c.4105G>T NP_001394768.1:p.Val1369Leu missense NM_001407841.1:c.4105G>T NP_001394770.1:p.Val1369Leu missense NM_001407842.1:c.4105G>T NP_001394771.1:p.Val1369Leu missense NM_001407843.1:c.4105G>T NP_001394772.1:p.Val1369Leu missense NM_001407844.1:c.4105G>T NP_001394773.1:p.Val1369Leu missense NM_001407845.1:c.4105G>T NP_001394774.1:p.Val1369Leu missense NM_001407846.1:c.4105G>T NP_001394775.1:p.Val1369Leu missense NM_001407847.1:c.4102G>T NP_001394776.1:p.Val1368Leu missense NM_001407848.1:c.4102G>T NP_001394777.1:p.Val1368Leu missense NM_001407849.1:c.4102G>T NP_001394778.1:p.Val1368Leu missense NM_001407850.1:c.4105G>T NP_001394779.1:p.Val1369Leu missense NM_001407851.1:c.4105G>T NP_001394780.1:p.Val1369Leu missense NM_001407852.1:c.4105G>T NP_001394781.1:p.Val1369Leu missense NM_001407853.1:c.4036G>T NP_001394782.1:p.Val1346Leu missense NM_001407854.1:c.4249G>T NP_001394783.1:p.Val1417Leu missense NM_001407858.1:c.4249G>T NP_001394787.1:p.Val1417Leu missense NM_001407859.1:c.4249G>T NP_001394788.1:p.Val1417Leu missense NM_001407860.1:c.4246G>T NP_001394789.1:p.Val1416Leu missense NM_001407861.1:c.4246G>T NP_001394790.1:p.Val1416Leu missense NM_001407862.1:c.4048G>T NP_001394791.1:p.Val1350Leu missense NM_001407863.1:c.4126G>T NP_001394792.1:p.Val1376Leu missense NM_001407874.1:c.4045G>T NP_001394803.1:p.Val1349Leu missense NM_001407875.1:c.4045G>T NP_001394804.1:p.Val1349Leu missense NM_001407879.1:c.4039G>T NP_001394808.1:p.Val1347Leu missense NM_001407881.1:c.4039G>T NP_001394810.1:p.Val1347Leu missense NM_001407882.1:c.4039G>T NP_001394811.1:p.Val1347Leu missense NM_001407884.1:c.4039G>T NP_001394813.1:p.Val1347Leu missense NM_001407885.1:c.4039G>T NP_001394814.1:p.Val1347Leu missense NM_001407886.1:c.4039G>T NP_001394815.1:p.Val1347Leu missense NM_001407887.1:c.4039G>T NP_001394816.1:p.Val1347Leu missense NM_001407889.1:c.4039G>T NP_001394818.1:p.Val1347Leu missense NM_001407894.1:c.4036G>T NP_001394823.1:p.Val1346Leu missense NM_001407895.1:c.4036G>T NP_001394824.1:p.Val1346Leu missense NM_001407896.1:c.4036G>T NP_001394825.1:p.Val1346Leu missense NM_001407897.1:c.4036G>T NP_001394826.1:p.Val1346Leu missense NM_001407898.1:c.4036G>T NP_001394827.1:p.Val1346Leu missense NM_001407899.1:c.4036G>T NP_001394828.1:p.Val1346Leu missense NM_001407900.1:c.4039G>T NP_001394829.1:p.Val1347Leu missense NM_001407902.1:c.4039G>T NP_001394831.1:p.Val1347Leu missense NM_001407904.1:c.4039G>T NP_001394833.1:p.Val1347Leu missense NM_001407906.1:c.4039G>T NP_001394835.1:p.Val1347Leu missense NM_001407907.1:c.4036G>T NP_001394836.1:p.Val1346Leu missense NM_001407908.1:c.4036G>T NP_001394837.1:p.Val1346Leu missense NM_001407909.1:c.4036G>T NP_001394838.1:p.Val1346Leu missense NM_001407910.1:c.4036G>T NP_001394839.1:p.Val1346Leu missense NM_001407915.1:c.4033G>T NP_001394844.1:p.Val1345Leu missense NM_001407916.1:c.4036G>T NP_001394845.1:p.Val1346Leu missense NM_001407917.1:c.4036G>T NP_001394846.1:p.Val1346Leu missense NM_001407918.1:c.4036G>T NP_001394847.1:p.Val1346Leu missense NM_001407919.1:c.4126G>T NP_001394848.1:p.Val1376Leu missense NM_001407920.1:c.3985G>T NP_001394849.1:p.Val1329Leu missense NM_001407921.1:c.3985G>T NP_001394850.1:p.Val1329Leu missense NM_001407922.1:c.3985G>T NP_001394851.1:p.Val1329Leu missense NM_001407923.1:c.3985G>T NP_001394852.1:p.Val1329Leu missense NM_001407924.1:c.3985G>T NP_001394853.1:p.Val1329Leu missense NM_001407925.1:c.3985G>T NP_001394854.1:p.Val1329Leu missense NM_001407926.1:c.3985G>T NP_001394855.1:p.Val1329Leu missense NM_001407927.1:c.3985G>T NP_001394856.1:p.Val1329Leu missense NM_001407928.1:c.3985G>T NP_001394857.1:p.Val1329Leu missense NM_001407929.1:c.3985G>T NP_001394858.1:p.Val1329Leu missense NM_001407930.1:c.3982G>T NP_001394859.1:p.Val1328Leu missense NM_001407931.1:c.3982G>T NP_001394860.1:p.Val1328Leu missense NM_001407932.1:c.3982G>T NP_001394861.1:p.Val1328Leu missense NM_001407933.1:c.3982G>T NP_001394862.1:p.Val1328Leu missense NM_001407934.1:c.3979G>T NP_001394863.1:p.Val1327Leu missense NM_001407935.1:c.3982G>T NP_001394864.1:p.Val1328Leu missense NM_001407936.1:c.3982G>T NP_001394865.1:p.Val1328Leu missense NM_001407937.1:c.4126G>T NP_001394866.1:p.Val1376Leu missense NM_001407938.1:c.4126G>T NP_001394867.1:p.Val1376Leu missense NM_001407939.1:c.4126G>T NP_001394868.1:p.Val1376Leu missense NM_001407940.1:c.4123G>T NP_001394869.1:p.Val1375Leu missense NM_001407941.1:c.4123G>T NP_001394870.1:p.Val1375Leu missense NM_001407942.1:c.4108G>T NP_001394871.1:p.Val1370Leu missense NM_001407943.1:c.4105G>T NP_001394872.1:p.Val1369Leu missense NM_001407944.1:c.4108G>T NP_001394873.1:p.Val1370Leu missense NM_001407945.1:c.4108G>T NP_001394874.1:p.Val1370Leu missense NM_001407946.1:c.3916G>T NP_001394875.1:p.Val1306Leu missense NM_001407947.1:c.3916G>T NP_001394876.1:p.Val1306Leu missense NM_001407948.1:c.3916G>T NP_001394877.1:p.Val1306Leu missense NM_001407949.1:c.3916G>T NP_001394878.1:p.Val1306Leu missense NM_001407950.1:c.3916G>T NP_001394879.1:p.Val1306Leu missense NM_001407951.1:c.3916G>T NP_001394880.1:p.Val1306Leu missense NM_001407952.1:c.3913G>T NP_001394881.1:p.Val1305Leu missense NM_001407953.1:c.3913G>T NP_001394882.1:p.Val1305Leu missense NM_001407954.1:c.3913G>T NP_001394883.1:p.Val1305Leu missense NM_001407955.1:c.3913G>T NP_001394884.1:p.Val1305Leu missense NM_001407956.1:c.3910G>T NP_001394885.1:p.Val1304Leu missense NM_001407957.1:c.3913G>T NP_001394886.1:p.Val1305Leu missense NM_001407958.1:c.3913G>T NP_001394887.1:p.Val1305Leu missense NM_001407959.1:c.3868G>T NP_001394888.1:p.Val1290Leu missense NM_001407960.1:c.3868G>T NP_001394889.1:p.Val1290Leu missense NM_001407962.1:c.3865G>T NP_001394891.1:p.Val1289Leu missense NM_001407963.1:c.3865G>T NP_001394892.1:p.Val1289Leu missense NM_001407964.1:c.4105G>T NP_001394893.1:p.Val1369Leu missense NM_001407965.1:c.3742G>T NP_001394894.1:p.Val1248Leu missense NM_001407966.1:c.3361G>T NP_001394895.1:p.Val1121Leu missense NM_001407967.1:c.3361G>T NP_001394896.1:p.Val1121Leu missense NM_001407968.1:c.1645G>T NP_001394897.1:p.Val549Leu missense NM_001407969.1:c.1642G>T NP_001394898.1:p.Val548Leu missense NM_001407970.1:c.940G>T NP_001394899.1:p.Val314Leu missense NM_001407971.1:c.940G>T NP_001394900.1:p.Val314Leu missense NM_001407972.1:c.937G>T NP_001394901.1:p.Val313Leu missense NM_001407973.1:c.940G>T NP_001394902.1:p.Val314Leu missense NM_001407974.1:c.940G>T NP_001394903.1:p.Val314Leu missense NM_001407975.1:c.940G>T NP_001394904.1:p.Val314Leu missense NM_001407976.1:c.940G>T NP_001394905.1:p.Val314Leu missense NM_001407977.1:c.940G>T NP_001394906.1:p.Val314Leu missense NM_001407978.1:c.940G>T NP_001394907.1:p.Val314Leu missense NM_001407979.1:c.937G>T NP_001394908.1:p.Val313Leu missense NM_001407980.1:c.937G>T NP_001394909.1:p.Val313Leu missense NM_001407981.1:c.937G>T NP_001394910.1:p.Val313Leu missense NM_001407982.1:c.937G>T NP_001394911.1:p.Val313Leu missense NM_001407983.1:c.937G>T NP_001394912.1:p.Val313Leu missense NM_001407984.1:c.937G>T NP_001394913.1:p.Val313Leu missense NM_001407985.1:c.937G>T NP_001394914.1:p.Val313Leu missense NM_001407986.1:c.937G>T NP_001394915.1:p.Val313Leu missense NM_001407990.1:c.937G>T NP_001394919.1:p.Val313Leu missense NM_001407991.1:c.937G>T NP_001394920.1:p.Val313Leu missense NM_001407992.1:c.937G>T NP_001394921.1:p.Val313Leu missense NM_001407993.1:c.940G>T NP_001394922.1:p.Val314Leu missense NM_001408392.1:c.937G>T NP_001395321.1:p.Val313Leu missense NM_001408396.1:c.937G>T NP_001395325.1:p.Val313Leu missense NM_001408397.1:c.937G>T NP_001395326.1:p.Val313Leu missense NM_001408398.1:c.937G>T NP_001395327.1:p.Val313Leu missense NM_001408399.1:c.937G>T NP_001395328.1:p.Val313Leu missense NM_001408400.1:c.934G>T NP_001395329.1:p.Val312Leu missense NM_001408401.1:c.934G>T NP_001395330.1:p.Val312Leu missense NM_001408402.1:c.934G>T NP_001395331.1:p.Val312Leu missense NM_001408403.1:c.937G>T NP_001395332.1:p.Val313Leu missense NM_001408404.1:c.937G>T NP_001395333.1:p.Val313Leu missense NM_001408406.1:c.931G>T NP_001395335.1:p.Val311Leu missense NM_001408407.1:c.934G>T NP_001395336.1:p.Val312Leu missense NM_001408408.1:c.931G>T NP_001395337.1:p.Val311Leu missense NM_001408409.1:c.862G>T NP_001395338.1:p.Val288Leu missense NM_001408410.1:c.799G>T NP_001395339.1:p.Val267Leu missense NM_001408411.1:c.862G>T NP_001395340.1:p.Val288Leu missense NM_001408412.1:c.862G>T NP_001395341.1:p.Val288Leu missense NM_001408413.1:c.859G>T NP_001395342.1:p.Val287Leu missense NM_001408414.1:c.862G>T NP_001395343.1:p.Val288Leu missense NM_001408415.1:c.862G>T NP_001395344.1:p.Val288Leu missense NM_001408416.1:c.859G>T NP_001395345.1:p.Val287Leu missense NM_001408418.1:c.823G>T NP_001395347.1:p.Val275Leu missense NM_001408419.1:c.823G>T NP_001395348.1:p.Val275Leu missense NM_001408420.1:c.823G>T NP_001395349.1:p.Val275Leu missense NM_001408421.1:c.820G>T NP_001395350.1:p.Val274Leu missense NM_001408422.1:c.823G>T NP_001395351.1:p.Val275Leu missense NM_001408423.1:c.823G>T NP_001395352.1:p.Val275Leu missense NM_001408424.1:c.820G>T NP_001395353.1:p.Val274Leu missense NM_001408425.1:c.817G>T NP_001395354.1:p.Val273Leu missense NM_001408426.1:c.817G>T NP_001395355.1:p.Val273Leu missense NM_001408427.1:c.817G>T NP_001395356.1:p.Val273Leu missense NM_001408428.1:c.817G>T NP_001395357.1:p.Val273Leu missense NM_001408429.1:c.817G>T NP_001395358.1:p.Val273Leu missense NM_001408430.1:c.817G>T NP_001395359.1:p.Val273Leu missense NM_001408431.1:c.820G>T NP_001395360.1:p.Val274Leu missense NM_001408432.1:c.814G>T NP_001395361.1:p.Val272Leu missense NM_001408433.1:c.814G>T NP_001395362.1:p.Val272Leu missense NM_001408434.1:c.814G>T NP_001395363.1:p.Val272Leu missense NM_001408435.1:c.814G>T NP_001395364.1:p.Val272Leu missense NM_001408436.1:c.817G>T NP_001395365.1:p.Val273Leu missense NM_001408437.1:c.817G>T NP_001395366.1:p.Val273Leu missense NM_001408438.1:c.817G>T NP_001395367.1:p.Val273Leu missense NM_001408439.1:c.817G>T NP_001395368.1:p.Val273Leu missense NM_001408440.1:c.817G>T NP_001395369.1:p.Val273Leu missense NM_001408441.1:c.814G>T NP_001395370.1:p.Val272Leu missense NM_001408442.1:c.814G>T NP_001395371.1:p.Val272Leu missense NM_001408443.1:c.814G>T NP_001395372.1:p.Val272Leu missense NM_001408444.1:c.814G>T NP_001395373.1:p.Val272Leu missense NM_001408445.1:c.814G>T NP_001395374.1:p.Val272Leu missense NM_001408446.1:c.814G>T NP_001395375.1:p.Val272Leu missense NM_001408447.1:c.814G>T NP_001395376.1:p.Val272Leu missense NM_001408448.1:c.814G>T NP_001395377.1:p.Val272Leu missense NM_001408450.1:c.814G>T NP_001395379.1:p.Val272Leu missense NM_001408451.1:c.805G>T NP_001395380.1:p.Val269Leu missense NM_001408452.1:c.799G>T NP_001395381.1:p.Val267Leu missense NM_001408453.1:c.799G>T NP_001395382.1:p.Val267Leu missense NM_001408454.1:c.799G>T NP_001395383.1:p.Val267Leu missense NM_001408455.1:c.799G>T NP_001395384.1:p.Val267Leu missense NM_001408456.1:c.799G>T NP_001395385.1:p.Val267Leu missense NM_001408457.1:c.799G>T NP_001395386.1:p.Val267Leu missense NM_001408458.1:c.799G>T NP_001395387.1:p.Val267Leu missense NM_001408459.1:c.799G>T NP_001395388.1:p.Val267Leu missense NM_001408460.1:c.799G>T NP_001395389.1:p.Val267Leu missense NM_001408461.1:c.799G>T NP_001395390.1:p.Val267Leu missense NM_001408462.1:c.796G>T NP_001395391.1:p.Val266Leu missense NM_001408463.1:c.796G>T NP_001395392.1:p.Val266Leu missense NM_001408464.1:c.796G>T NP_001395393.1:p.Val266Leu missense NM_001408465.1:c.796G>T NP_001395394.1:p.Val266Leu missense NM_001408466.1:c.796G>T NP_001395395.1:p.Val266Leu missense NM_001408467.1:c.796G>T NP_001395396.1:p.Val266Leu missense NM_001408468.1:c.796G>T NP_001395397.1:p.Val266Leu missense NM_001408469.1:c.796G>T NP_001395398.1:p.Val266Leu missense NM_001408470.1:c.793G>T NP_001395399.1:p.Val265Leu missense NM_001408472.1:c.937G>T NP_001395401.1:p.Val313Leu missense NM_001408473.1:c.937G>T NP_001395402.1:p.Val313Leu missense NM_001408474.1:c.739G>T NP_001395403.1:p.Val247Leu missense NM_001408475.1:c.736G>T NP_001395404.1:p.Val246Leu missense NM_001408476.1:c.739G>T NP_001395405.1:p.Val247Leu missense NM_001408478.1:c.730G>T NP_001395407.1:p.Val244Leu missense NM_001408479.1:c.730G>T NP_001395408.1:p.Val244Leu missense NM_001408480.1:c.730G>T NP_001395409.1:p.Val244Leu missense NM_001408481.1:c.730G>T NP_001395410.1:p.Val244Leu missense NM_001408482.1:c.730G>T NP_001395411.1:p.Val244Leu missense NM_001408483.1:c.730G>T NP_001395412.1:p.Val244Leu missense NM_001408484.1:c.730G>T NP_001395413.1:p.Val244Leu missense NM_001408485.1:c.730G>T NP_001395414.1:p.Val244Leu missense NM_001408489.1:c.727G>T NP_001395418.1:p.Val243Leu missense NM_001408490.1:c.727G>T NP_001395419.1:p.Val243Leu missense NM_001408491.1:c.727G>T NP_001395420.1:p.Val243Leu missense NM_001408492.1:c.727G>T NP_001395421.1:p.Val243Leu missense NM_001408493.1:c.727G>T NP_001395422.1:p.Val243Leu missense NM_001408494.1:c.700G>T NP_001395423.1:p.Val234Leu missense NM_001408495.1:c.697G>T NP_001395424.1:p.Val233Leu missense NM_001408496.1:c.676G>T NP_001395425.1:p.Val226Leu missense NM_001408497.1:c.676G>T NP_001395426.1:p.Val226Leu missense NM_001408498.1:c.676G>T NP_001395427.1:p.Val226Leu missense NM_001408499.1:c.676G>T NP_001395428.1:p.Val226Leu missense NM_001408500.1:c.676G>T NP_001395429.1:p.Val226Leu missense NM_001408501.1:c.676G>T NP_001395430.1:p.Val226Leu missense NM_001408502.1:c.607G>T NP_001395431.1:p.Val203Leu missense NM_001408503.1:c.673G>T NP_001395432.1:p.Val225Leu missense NM_001408504.1:c.673G>T NP_001395433.1:p.Val225Leu missense NM_001408505.1:c.673G>T NP_001395434.1:p.Val225Leu missense NM_001408506.1:c.613G>T NP_001395435.1:p.Val205Leu missense NM_001408507.1:c.610G>T NP_001395436.1:p.Val204Leu missense NM_001408508.1:c.601G>T NP_001395437.1:p.Val201Leu missense NM_001408509.1:c.601G>T NP_001395438.1:p.Val201Leu missense NM_001408510.1:c.559G>T NP_001395439.1:p.Val187Leu missense NM_001408511.1:c.556G>T NP_001395440.1:p.Val186Leu missense NM_001408512.1:c.436G>T NP_001395441.1:p.Val146Leu missense NM_001408513.1:c.727G>T NP_001395442.1:p.Val243Leu missense NM_001408514.1:c.730G>T NP_001395443.1:p.Val244Leu missense NM_007297.4:c.4108G>T NP_009228.2:p.Val1370Leu missense NM_007298.4:c.940G>T NP_009229.2:p.Val314Leu missense NM_007299.4:c.940G>T NP_009230.2:p.Val314Leu missense NM_007300.4:c.4249G>T NP_009231.2:p.Val1417Leu missense NM_007304.2:c.940G>T NP_009235.2:p.Val314Leu missense NR_027676.2:n.4426G>T non-coding transcript variant NC_000017.11:g.43082512C>A NC_000017.10:g.41234529C>A NG_005905.2:g.135472G>T LRG_292:g.135472G>T LRG_292t1:c.4249G>T LRG_292p1:p.Val1417Leu - Protein change
- V1304L, V1327L, V1345L, V1346L, V1347L, V1389L, V1390L, V1415L, V246L, V247L, V269L, V273L, V288L, V311L, V1290L, V1329L, V1368L, V1369L, V1376L, V1416L, V201L, V205L, V234L, V243L, V244L, V265L, V275L, V287L, V548L, V1121L, V1248L, V1305L, V1328L, V1349L, V1370L, V1391L, V1417L, V146L, V186L, V203L, V225L, V266L, V267L, V274L, V312L, V314L, V549L, V1289L, V1306L, V1350L, V1374L, V1375L, V1413L, V187L, V204L, V226L, V233L, V272L, V313L
- Other names
- -
- Canonical SPDI
- NC_000017.11:43082511:C:A
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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.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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- 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 | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13029 | 14833 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Uncertain significance (1) |
criteria provided, single submitter
|
Feb 18, 2022 | RCV002329826.2 |
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. |
|
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Uncertain significance
(Feb 18, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV002629794.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The p.V1417L variant (also known as c.4249G>T), located in coding exon 11 of the BRCA1 gene, results from a G to T substitution at nucleotide … (more)
The p.V1417L variant (also known as c.4249G>T), located in coding exon 11 of the BRCA1 gene, results from a G to T substitution at nucleotide position 4249. The valine at codon 1417 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
|
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 May 01, 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.