ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4549C>G (p.Leu1517Val)
Germline
Classification
Help
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.
(1)
Help
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.
Uncertain significance
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.4549C>G (p.Leu1517Val)
Variation ID: 491082 Accession: VCV000491082.5
- Type and length
-
single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43074457 (GRCh38) [ NCBI UCSC ] 17: 41226474 (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 Feb 19, 2018 Jun 22, 2020 Jan 4, 2019 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.4549C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Leu1517Val missense NM_001407571.1:c.4336C>G NP_001394500.1:p.Leu1446Val missense NM_001407581.1:c.4615C>G NP_001394510.1:p.Leu1539Val missense NM_001407582.1:c.4615C>G NP_001394511.1:p.Leu1539Val missense NM_001407583.1:c.4612C>G NP_001394512.1:p.Leu1538Val missense NM_001407585.1:c.4612C>G NP_001394514.1:p.Leu1538Val missense NM_001407587.1:c.4612C>G NP_001394516.1:p.Leu1538Val missense NM_001407590.1:c.4609C>G NP_001394519.1:p.Leu1537Val missense NM_001407591.1:c.4609C>G NP_001394520.1:p.Leu1537Val missense NM_001407593.1:c.4549C>G NP_001394522.1:p.Leu1517Val missense NM_001407594.1:c.4549C>G NP_001394523.1:p.Leu1517Val missense NM_001407596.1:c.4549C>G NP_001394525.1:p.Leu1517Val missense NM_001407597.1:c.4549C>G NP_001394526.1:p.Leu1517Val missense NM_001407598.1:c.4549C>G NP_001394527.1:p.Leu1517Val missense NM_001407602.1:c.4549C>G NP_001394531.1:p.Leu1517Val missense NM_001407603.1:c.4549C>G NP_001394532.1:p.Leu1517Val missense NM_001407605.1:c.4549C>G NP_001394534.1:p.Leu1517Val missense NM_001407610.1:c.4546C>G NP_001394539.1:p.Leu1516Val missense NM_001407611.1:c.4546C>G NP_001394540.1:p.Leu1516Val missense NM_001407612.1:c.4546C>G NP_001394541.1:p.Leu1516Val missense NM_001407613.1:c.4546C>G NP_001394542.1:p.Leu1516Val missense NM_001407614.1:c.4546C>G NP_001394543.1:p.Leu1516Val missense NM_001407615.1:c.4546C>G NP_001394544.1:p.Leu1516Val missense NM_001407616.1:c.4546C>G NP_001394545.1:p.Leu1516Val missense NM_001407617.1:c.4546C>G NP_001394546.1:p.Leu1516Val missense NM_001407618.1:c.4546C>G NP_001394547.1:p.Leu1516Val missense NM_001407619.1:c.4546C>G NP_001394548.1:p.Leu1516Val missense NM_001407620.1:c.4546C>G NP_001394549.1:p.Leu1516Val missense NM_001407621.1:c.4546C>G NP_001394550.1:p.Leu1516Val missense NM_001407622.1:c.4546C>G NP_001394551.1:p.Leu1516Val missense NM_001407623.1:c.4546C>G NP_001394552.1:p.Leu1516Val missense NM_001407624.1:c.4546C>G NP_001394553.1:p.Leu1516Val missense NM_001407625.1:c.4546C>G NP_001394554.1:p.Leu1516Val missense NM_001407626.1:c.4546C>G NP_001394555.1:p.Leu1516Val missense NM_001407627.1:c.4543C>G NP_001394556.1:p.Leu1515Val missense NM_001407628.1:c.4543C>G NP_001394557.1:p.Leu1515Val missense NM_001407629.1:c.4543C>G NP_001394558.1:p.Leu1515Val missense NM_001407630.1:c.4543C>G NP_001394559.1:p.Leu1515Val missense NM_001407631.1:c.4543C>G NP_001394560.1:p.Leu1515Val missense NM_001407632.1:c.4543C>G NP_001394561.1:p.Leu1515Val missense NM_001407633.1:c.4543C>G NP_001394562.1:p.Leu1515Val missense NM_001407634.1:c.4543C>G NP_001394563.1:p.Leu1515Val missense NM_001407635.1:c.4543C>G NP_001394564.1:p.Leu1515Val missense NM_001407636.1:c.4543C>G NP_001394565.1:p.Leu1515Val missense NM_001407637.1:c.4543C>G NP_001394566.1:p.Leu1515Val missense NM_001407638.1:c.4543C>G NP_001394567.1:p.Leu1515Val missense NM_001407639.1:c.4543C>G NP_001394568.1:p.Leu1515Val missense NM_001407640.1:c.4543C>G NP_001394569.1:p.Leu1515Val missense NM_001407641.1:c.4543C>G NP_001394570.1:p.Leu1515Val missense NM_001407642.1:c.4543C>G NP_001394571.1:p.Leu1515Val missense NM_001407644.1:c.4540C>G NP_001394573.1:p.Leu1514Val missense NM_001407645.1:c.4540C>G NP_001394574.1:p.Leu1514Val missense NM_001407646.1:c.4537C>G NP_001394575.1:p.Leu1513Val missense NM_001407647.1:c.4534C>G NP_001394576.1:p.Leu1512Val missense NM_001407648.1:c.4492C>G NP_001394577.1:p.Leu1498Val missense NM_001407649.1:c.4489C>G NP_001394578.1:p.Leu1497Val missense NM_001407652.1:c.4549C>G NP_001394581.1:p.Leu1517Val missense NM_001407653.1:c.4471C>G NP_001394582.1:p.Leu1491Val missense NM_001407654.1:c.4471C>G NP_001394583.1:p.Leu1491Val missense NM_001407655.1:c.4471C>G NP_001394584.1:p.Leu1491Val missense NM_001407656.1:c.4468C>G NP_001394585.1:p.Leu1490Val missense NM_001407657.1:c.4468C>G NP_001394586.1:p.Leu1490Val missense NM_001407658.1:c.4468C>G NP_001394587.1:p.Leu1490Val missense NM_001407659.1:c.4465C>G NP_001394588.1:p.Leu1489Val missense NM_001407660.1:c.4465C>G NP_001394589.1:p.Leu1489Val missense NM_001407661.1:c.4465C>G NP_001394590.1:p.Leu1489Val missense NM_001407662.1:c.4465C>G NP_001394591.1:p.Leu1489Val missense NM_001407663.1:c.4465C>G NP_001394592.1:p.Leu1489Val missense NM_001407664.1:c.4426C>G NP_001394593.1:p.Leu1476Val missense NM_001407665.1:c.4426C>G NP_001394594.1:p.Leu1476Val missense NM_001407666.1:c.4426C>G NP_001394595.1:p.Leu1476Val missense NM_001407667.1:c.4426C>G NP_001394596.1:p.Leu1476Val missense NM_001407668.1:c.4426C>G NP_001394597.1:p.Leu1476Val missense NM_001407669.1:c.4426C>G NP_001394598.1:p.Leu1476Val missense NM_001407670.1:c.4423C>G NP_001394599.1:p.Leu1475Val missense NM_001407671.1:c.4423C>G NP_001394600.1:p.Leu1475Val missense NM_001407672.1:c.4423C>G NP_001394601.1:p.Leu1475Val missense NM_001407673.1:c.4423C>G NP_001394602.1:p.Leu1475Val missense NM_001407674.1:c.4423C>G NP_001394603.1:p.Leu1475Val missense NM_001407675.1:c.4423C>G NP_001394604.1:p.Leu1475Val missense NM_001407676.1:c.4423C>G NP_001394605.1:p.Leu1475Val missense NM_001407677.1:c.4423C>G NP_001394606.1:p.Leu1475Val missense NM_001407678.1:c.4423C>G NP_001394607.1:p.Leu1475Val missense NM_001407679.1:c.4423C>G NP_001394608.1:p.Leu1475Val missense NM_001407680.1:c.4423C>G NP_001394609.1:p.Leu1475Val missense NM_001407681.1:c.4420C>G NP_001394610.1:p.Leu1474Val missense NM_001407682.1:c.4420C>G NP_001394611.1:p.Leu1474Val missense NM_001407683.1:c.4420C>G NP_001394612.1:p.Leu1474Val missense NM_001407684.1:c.4549C>G NP_001394613.1:p.Leu1517Val missense NM_001407685.1:c.4420C>G NP_001394614.1:p.Leu1474Val missense NM_001407686.1:c.4420C>G NP_001394615.1:p.Leu1474Val missense NM_001407687.1:c.4420C>G NP_001394616.1:p.Leu1474Val missense NM_001407688.1:c.4420C>G NP_001394617.1:p.Leu1474Val missense NM_001407689.1:c.4420C>G NP_001394618.1:p.Leu1474Val missense NM_001407690.1:c.4417C>G NP_001394619.1:p.Leu1473Val missense NM_001407691.1:c.4417C>G NP_001394620.1:p.Leu1473Val missense NM_001407692.1:c.4408C>G NP_001394621.1:p.Leu1470Val missense NM_001407694.1:c.4408C>G NP_001394623.1:p.Leu1470Val missense NM_001407695.1:c.4408C>G NP_001394624.1:p.Leu1470Val missense NM_001407696.1:c.4408C>G NP_001394625.1:p.Leu1470Val missense NM_001407697.1:c.4408C>G NP_001394626.1:p.Leu1470Val missense NM_001407698.1:c.4408C>G NP_001394627.1:p.Leu1470Val missense NM_001407724.1:c.4408C>G NP_001394653.1:p.Leu1470Val missense NM_001407725.1:c.4408C>G NP_001394654.1:p.Leu1470Val missense NM_001407726.1:c.4408C>G NP_001394655.1:p.Leu1470Val missense NM_001407727.1:c.4408C>G NP_001394656.1:p.Leu1470Val missense NM_001407728.1:c.4408C>G NP_001394657.1:p.Leu1470Val missense NM_001407729.1:c.4408C>G NP_001394658.1:p.Leu1470Val missense NM_001407730.1:c.4408C>G NP_001394659.1:p.Leu1470Val missense NM_001407731.1:c.4408C>G NP_001394660.1:p.Leu1470Val missense NM_001407732.1:c.4405C>G NP_001394661.1:p.Leu1469Val missense NM_001407733.1:c.4405C>G NP_001394662.1:p.Leu1469Val missense NM_001407734.1:c.4405C>G NP_001394663.1:p.Leu1469Val missense NM_001407735.1:c.4405C>G NP_001394664.1:p.Leu1469Val missense NM_001407736.1:c.4405C>G NP_001394665.1:p.Leu1469Val missense NM_001407737.1:c.4405C>G NP_001394666.1:p.Leu1469Val missense NM_001407738.1:c.4405C>G NP_001394667.1:p.Leu1469Val missense NM_001407739.1:c.4405C>G NP_001394668.1:p.Leu1469Val missense NM_001407740.1:c.4405C>G NP_001394669.1:p.Leu1469Val missense NM_001407741.1:c.4405C>G NP_001394670.1:p.Leu1469Val missense NM_001407742.1:c.4405C>G NP_001394671.1:p.Leu1469Val missense NM_001407743.1:c.4405C>G NP_001394672.1:p.Leu1469Val missense NM_001407744.1:c.4405C>G NP_001394673.1:p.Leu1469Val missense NM_001407745.1:c.4405C>G NP_001394674.1:p.Leu1469Val missense NM_001407746.1:c.4405C>G NP_001394675.1:p.Leu1469Val missense NM_001407747.1:c.4405C>G NP_001394676.1:p.Leu1469Val missense NM_001407748.1:c.4405C>G NP_001394677.1:p.Leu1469Val missense NM_001407749.1:c.4405C>G NP_001394678.1:p.Leu1469Val missense NM_001407750.1:c.4405C>G NP_001394679.1:p.Leu1469Val missense NM_001407751.1:c.4405C>G NP_001394680.1:p.Leu1469Val missense NM_001407752.1:c.4405C>G NP_001394681.1:p.Leu1469Val missense NM_001407838.1:c.4402C>G NP_001394767.1:p.Leu1468Val missense NM_001407839.1:c.4402C>G NP_001394768.1:p.Leu1468Val missense NM_001407841.1:c.4402C>G NP_001394770.1:p.Leu1468Val missense NM_001407842.1:c.4402C>G NP_001394771.1:p.Leu1468Val missense NM_001407843.1:c.4402C>G NP_001394772.1:p.Leu1468Val missense NM_001407844.1:c.4402C>G NP_001394773.1:p.Leu1468Val missense NM_001407845.1:c.4402C>G NP_001394774.1:p.Leu1468Val missense NM_001407846.1:c.4402C>G NP_001394775.1:p.Leu1468Val missense NM_001407847.1:c.4402C>G NP_001394776.1:p.Leu1468Val missense NM_001407848.1:c.4402C>G NP_001394777.1:p.Leu1468Val missense NM_001407849.1:c.4402C>G NP_001394778.1:p.Leu1468Val missense NM_001407850.1:c.4402C>G NP_001394779.1:p.Leu1468Val missense NM_001407851.1:c.4402C>G NP_001394780.1:p.Leu1468Val missense NM_001407852.1:c.4402C>G NP_001394781.1:p.Leu1468Val missense NM_001407853.1:c.4402C>G NP_001394782.1:p.Leu1468Val missense NM_001407854.1:c.4549C>G NP_001394783.1:p.Leu1517Val missense NM_001407858.1:c.4546C>G NP_001394787.1:p.Leu1516Val missense NM_001407859.1:c.4546C>G NP_001394788.1:p.Leu1516Val missense NM_001407860.1:c.4546C>G NP_001394789.1:p.Leu1516Val missense NM_001407861.1:c.4543C>G NP_001394790.1:p.Leu1515Val missense NM_001407862.1:c.4348C>G NP_001394791.1:p.Leu1450Val missense NM_001407863.1:c.4423C>G NP_001394792.1:p.Leu1475Val missense NM_001407874.1:c.4342C>G NP_001394803.1:p.Leu1448Val missense NM_001407875.1:c.4342C>G NP_001394804.1:p.Leu1448Val missense NM_001407879.1:c.4339C>G NP_001394808.1:p.Leu1447Val missense NM_001407881.1:c.4339C>G NP_001394810.1:p.Leu1447Val missense NM_001407882.1:c.4339C>G NP_001394811.1:p.Leu1447Val missense NM_001407884.1:c.4339C>G NP_001394813.1:p.Leu1447Val missense NM_001407885.1:c.4339C>G NP_001394814.1:p.Leu1447Val missense NM_001407886.1:c.4339C>G NP_001394815.1:p.Leu1447Val missense NM_001407887.1:c.4339C>G NP_001394816.1:p.Leu1447Val missense NM_001407889.1:c.4339C>G NP_001394818.1:p.Leu1447Val missense NM_001407894.1:c.4336C>G NP_001394823.1:p.Leu1446Val missense NM_001407895.1:c.4336C>G NP_001394824.1:p.Leu1446Val missense NM_001407896.1:c.4336C>G NP_001394825.1:p.Leu1446Val missense NM_001407897.1:c.4336C>G NP_001394826.1:p.Leu1446Val missense NM_001407898.1:c.4336C>G NP_001394827.1:p.Leu1446Val missense NM_001407899.1:c.4336C>G NP_001394828.1:p.Leu1446Val missense NM_001407900.1:c.4336C>G NP_001394829.1:p.Leu1446Val missense NM_001407902.1:c.4336C>G NP_001394831.1:p.Leu1446Val missense NM_001407904.1:c.4336C>G NP_001394833.1:p.Leu1446Val missense NM_001407906.1:c.4336C>G NP_001394835.1:p.Leu1446Val missense NM_001407907.1:c.4336C>G NP_001394836.1:p.Leu1446Val missense NM_001407908.1:c.4336C>G NP_001394837.1:p.Leu1446Val missense NM_001407909.1:c.4336C>G NP_001394838.1:p.Leu1446Val missense NM_001407910.1:c.4336C>G NP_001394839.1:p.Leu1446Val missense NM_001407915.1:c.4333C>G NP_001394844.1:p.Leu1445Val missense NM_001407916.1:c.4333C>G NP_001394845.1:p.Leu1445Val missense NM_001407917.1:c.4333C>G NP_001394846.1:p.Leu1445Val missense NM_001407918.1:c.4333C>G NP_001394847.1:p.Leu1445Val missense NM_001407919.1:c.4426C>G NP_001394848.1:p.Leu1476Val missense NM_001407920.1:c.4285C>G NP_001394849.1:p.Leu1429Val missense NM_001407921.1:c.4285C>G NP_001394850.1:p.Leu1429Val missense NM_001407922.1:c.4285C>G NP_001394851.1:p.Leu1429Val missense NM_001407923.1:c.4285C>G NP_001394852.1:p.Leu1429Val missense NM_001407924.1:c.4285C>G NP_001394853.1:p.Leu1429Val missense NM_001407925.1:c.4285C>G NP_001394854.1:p.Leu1429Val missense NM_001407926.1:c.4285C>G NP_001394855.1:p.Leu1429Val missense NM_001407927.1:c.4282C>G NP_001394856.1:p.Leu1428Val missense NM_001407928.1:c.4282C>G NP_001394857.1:p.Leu1428Val missense NM_001407929.1:c.4282C>G NP_001394858.1:p.Leu1428Val missense NM_001407930.1:c.4282C>G NP_001394859.1:p.Leu1428Val missense NM_001407931.1:c.4282C>G NP_001394860.1:p.Leu1428Val missense NM_001407932.1:c.4282C>G NP_001394861.1:p.Leu1428Val missense NM_001407933.1:c.4282C>G NP_001394862.1:p.Leu1428Val missense NM_001407934.1:c.4279C>G NP_001394863.1:p.Leu1427Val missense NM_001407935.1:c.4279C>G NP_001394864.1:p.Leu1427Val missense NM_001407936.1:c.4279C>G NP_001394865.1:p.Leu1427Val missense NM_001407937.1:c.4426C>G NP_001394866.1:p.Leu1476Val missense NM_001407938.1:c.4426C>G NP_001394867.1:p.Leu1476Val missense NM_001407939.1:c.4423C>G NP_001394868.1:p.Leu1475Val missense NM_001407940.1:c.4423C>G NP_001394869.1:p.Leu1475Val missense NM_001407941.1:c.4420C>G NP_001394870.1:p.Leu1474Val missense NM_001407942.1:c.4408C>G NP_001394871.1:p.Leu1470Val missense NM_001407943.1:c.4405C>G NP_001394872.1:p.Leu1469Val missense NM_001407944.1:c.4405C>G NP_001394873.1:p.Leu1469Val missense NM_001407945.1:c.4405C>G NP_001394874.1:p.Leu1469Val missense NM_001407946.1:c.4216C>G NP_001394875.1:p.Leu1406Val missense NM_001407947.1:c.4216C>G NP_001394876.1:p.Leu1406Val missense NM_001407948.1:c.4216C>G NP_001394877.1:p.Leu1406Val missense NM_001407949.1:c.4216C>G NP_001394878.1:p.Leu1406Val missense NM_001407950.1:c.4213C>G NP_001394879.1:p.Leu1405Val missense NM_001407951.1:c.4213C>G NP_001394880.1:p.Leu1405Val missense NM_001407952.1:c.4213C>G NP_001394881.1:p.Leu1405Val missense NM_001407953.1:c.4213C>G NP_001394882.1:p.Leu1405Val missense NM_001407954.1:c.4213C>G NP_001394883.1:p.Leu1405Val missense NM_001407955.1:c.4213C>G NP_001394884.1:p.Leu1405Val missense NM_001407956.1:c.4210C>G NP_001394885.1:p.Leu1404Val missense NM_001407957.1:c.4210C>G NP_001394886.1:p.Leu1404Val missense NM_001407958.1:c.4210C>G NP_001394887.1:p.Leu1404Val missense NM_001407959.1:c.4168C>G NP_001394888.1:p.Leu1390Val missense NM_001407960.1:c.4165C>G NP_001394889.1:p.Leu1389Val missense NM_001407962.1:c.4165C>G NP_001394891.1:p.Leu1389Val missense NM_001407963.1:c.4162C>G NP_001394892.1:p.Leu1388Val missense NM_001407965.1:c.4042C>G NP_001394894.1:p.Leu1348Val missense NM_001407966.1:c.3661C>G NP_001394895.1:p.Leu1221Val missense NM_001407967.1:c.3658C>G NP_001394896.1:p.Leu1220Val missense NM_001407968.1:c.1945C>G NP_001394897.1:p.Leu649Val missense NM_001407969.1:c.1942C>G NP_001394898.1:p.Leu648Val missense NM_001407970.1:c.1306C>G NP_001394899.1:p.Leu436Val missense NM_001407971.1:c.1306C>G NP_001394900.1:p.Leu436Val missense NM_001407972.1:c.1303C>G NP_001394901.1:p.Leu435Val missense NM_001407973.1:c.1240C>G NP_001394902.1:p.Leu414Val missense NM_001407974.1:c.1240C>G NP_001394903.1:p.Leu414Val missense NM_001407975.1:c.1240C>G NP_001394904.1:p.Leu414Val missense NM_001407976.1:c.1240C>G NP_001394905.1:p.Leu414Val missense NM_001407977.1:c.1240C>G NP_001394906.1:p.Leu414Val missense NM_001407978.1:c.1240C>G NP_001394907.1:p.Leu414Val missense NM_001407979.1:c.1237C>G NP_001394908.1:p.Leu413Val missense NM_001407980.1:c.1237C>G NP_001394909.1:p.Leu413Val missense NM_001407981.1:c.1237C>G NP_001394910.1:p.Leu413Val missense NM_001407982.1:c.1237C>G NP_001394911.1:p.Leu413Val missense NM_001407983.1:c.1237C>G NP_001394912.1:p.Leu413Val missense NM_001407984.1:c.1237C>G NP_001394913.1:p.Leu413Val missense NM_001407985.1:c.1237C>G NP_001394914.1:p.Leu413Val missense NM_001407986.1:c.1237C>G NP_001394915.1:p.Leu413Val missense NM_001407990.1:c.1237C>G NP_001394919.1:p.Leu413Val missense NM_001407991.1:c.1237C>G NP_001394920.1:p.Leu413Val missense NM_001407992.1:c.1237C>G NP_001394921.1:p.Leu413Val missense NM_001407993.1:c.1237C>G NP_001394922.1:p.Leu413Val missense NM_001408392.1:c.1234C>G NP_001395321.1:p.Leu412Val missense NM_001408396.1:c.1234C>G NP_001395325.1:p.Leu412Val missense NM_001408397.1:c.1234C>G NP_001395326.1:p.Leu412Val missense NM_001408398.1:c.1234C>G NP_001395327.1:p.Leu412Val missense NM_001408399.1:c.1234C>G NP_001395328.1:p.Leu412Val missense NM_001408400.1:c.1234C>G NP_001395329.1:p.Leu412Val missense NM_001408401.1:c.1234C>G NP_001395330.1:p.Leu412Val missense NM_001408402.1:c.1234C>G NP_001395331.1:p.Leu412Val missense NM_001408403.1:c.1234C>G NP_001395332.1:p.Leu412Val missense NM_001408404.1:c.1234C>G NP_001395333.1:p.Leu412Val missense NM_001408406.1:c.1231C>G NP_001395335.1:p.Leu411Val missense NM_001408407.1:c.1231C>G NP_001395336.1:p.Leu411Val missense NM_001408408.1:c.1231C>G NP_001395337.1:p.Leu411Val missense NM_001408409.1:c.1228C>G NP_001395338.1:p.Leu410Val missense NM_001408410.1:c.1165C>G NP_001395339.1:p.Leu389Val missense NM_001408411.1:c.1162C>G NP_001395340.1:p.Leu388Val missense NM_001408412.1:c.1159C>G NP_001395341.1:p.Leu387Val missense NM_001408413.1:c.1159C>G NP_001395342.1:p.Leu387Val missense NM_001408414.1:c.1159C>G NP_001395343.1:p.Leu387Val missense NM_001408415.1:c.1159C>G NP_001395344.1:p.Leu387Val missense NM_001408416.1:c.1159C>G NP_001395345.1:p.Leu387Val missense NM_001408418.1:c.1123C>G NP_001395347.1:p.Leu375Val missense NM_001408419.1:c.1123C>G NP_001395348.1:p.Leu375Val missense NM_001408420.1:c.1123C>G NP_001395349.1:p.Leu375Val missense NM_001408421.1:c.1120C>G NP_001395350.1:p.Leu374Val missense NM_001408422.1:c.1120C>G NP_001395351.1:p.Leu374Val missense NM_001408423.1:c.1120C>G NP_001395352.1:p.Leu374Val missense NM_001408424.1:c.1120C>G NP_001395353.1:p.Leu374Val missense NM_001408425.1:c.1117C>G NP_001395354.1:p.Leu373Val missense NM_001408426.1:c.1117C>G NP_001395355.1:p.Leu373Val missense NM_001408427.1:c.1117C>G NP_001395356.1:p.Leu373Val missense NM_001408428.1:c.1117C>G NP_001395357.1:p.Leu373Val missense NM_001408429.1:c.1117C>G NP_001395358.1:p.Leu373Val missense NM_001408430.1:c.1117C>G NP_001395359.1:p.Leu373Val missense NM_001408431.1:c.1117C>G NP_001395360.1:p.Leu373Val missense NM_001408432.1:c.1114C>G NP_001395361.1:p.Leu372Val missense NM_001408433.1:c.1114C>G NP_001395362.1:p.Leu372Val missense NM_001408434.1:c.1114C>G NP_001395363.1:p.Leu372Val missense NM_001408435.1:c.1114C>G NP_001395364.1:p.Leu372Val missense NM_001408436.1:c.1114C>G NP_001395365.1:p.Leu372Val missense NM_001408437.1:c.1114C>G NP_001395366.1:p.Leu372Val missense NM_001408438.1:c.1114C>G NP_001395367.1:p.Leu372Val missense NM_001408439.1:c.1114C>G NP_001395368.1:p.Leu372Val missense NM_001408440.1:c.1114C>G NP_001395369.1:p.Leu372Val missense NM_001408441.1:c.1114C>G NP_001395370.1:p.Leu372Val missense NM_001408442.1:c.1114C>G NP_001395371.1:p.Leu372Val missense NM_001408443.1:c.1114C>G NP_001395372.1:p.Leu372Val missense NM_001408444.1:c.1114C>G NP_001395373.1:p.Leu372Val missense NM_001408445.1:c.1111C>G NP_001395374.1:p.Leu371Val missense NM_001408446.1:c.1111C>G NP_001395375.1:p.Leu371Val missense NM_001408447.1:c.1111C>G NP_001395376.1:p.Leu371Val missense NM_001408448.1:c.1111C>G NP_001395377.1:p.Leu371Val missense NM_001408450.1:c.1111C>G NP_001395379.1:p.Leu371Val missense NM_001408451.1:c.1105C>G NP_001395380.1:p.Leu369Val missense NM_001408452.1:c.1099C>G NP_001395381.1:p.Leu367Val missense NM_001408453.1:c.1099C>G NP_001395382.1:p.Leu367Val missense NM_001408454.1:c.1099C>G NP_001395383.1:p.Leu367Val missense NM_001408455.1:c.1099C>G NP_001395384.1:p.Leu367Val missense NM_001408456.1:c.1099C>G NP_001395385.1:p.Leu367Val missense NM_001408457.1:c.1099C>G NP_001395386.1:p.Leu367Val missense NM_001408458.1:c.1096C>G NP_001395387.1:p.Leu366Val missense NM_001408459.1:c.1096C>G NP_001395388.1:p.Leu366Val missense NM_001408460.1:c.1096C>G NP_001395389.1:p.Leu366Val missense NM_001408461.1:c.1096C>G NP_001395390.1:p.Leu366Val missense NM_001408462.1:c.1096C>G NP_001395391.1:p.Leu366Val missense NM_001408463.1:c.1096C>G NP_001395392.1:p.Leu366Val missense NM_001408464.1:c.1096C>G NP_001395393.1:p.Leu366Val missense NM_001408465.1:c.1096C>G NP_001395394.1:p.Leu366Val missense NM_001408466.1:c.1096C>G NP_001395395.1:p.Leu366Val missense NM_001408467.1:c.1096C>G NP_001395396.1:p.Leu366Val missense NM_001408468.1:c.1093C>G NP_001395397.1:p.Leu365Val missense NM_001408469.1:c.1093C>G NP_001395398.1:p.Leu365Val missense NM_001408470.1:c.1093C>G NP_001395399.1:p.Leu365Val missense NM_001408472.1:c.1237C>G NP_001395401.1:p.Leu413Val missense NM_001408473.1:c.1234C>G NP_001395402.1:p.Leu412Val missense NM_001408474.1:c.1039C>G NP_001395403.1:p.Leu347Val missense NM_001408475.1:c.1036C>G NP_001395404.1:p.Leu346Val missense NM_001408476.1:c.1036C>G NP_001395405.1:p.Leu346Val missense NM_001408478.1:c.1030C>G NP_001395407.1:p.Leu344Val missense NM_001408479.1:c.1030C>G NP_001395408.1:p.Leu344Val missense NM_001408480.1:c.1030C>G NP_001395409.1:p.Leu344Val missense NM_001408481.1:c.1027C>G NP_001395410.1:p.Leu343Val missense NM_001408482.1:c.1027C>G NP_001395411.1:p.Leu343Val missense NM_001408483.1:c.1027C>G NP_001395412.1:p.Leu343Val missense NM_001408484.1:c.1027C>G NP_001395413.1:p.Leu343Val missense NM_001408485.1:c.1027C>G NP_001395414.1:p.Leu343Val missense NM_001408489.1:c.1027C>G NP_001395418.1:p.Leu343Val missense NM_001408490.1:c.1027C>G NP_001395419.1:p.Leu343Val missense NM_001408491.1:c.1027C>G NP_001395420.1:p.Leu343Val missense NM_001408492.1:c.1024C>G NP_001395421.1:p.Leu342Val missense NM_001408493.1:c.1024C>G NP_001395422.1:p.Leu342Val missense NM_001408494.1:c.1000C>G NP_001395423.1:p.Leu334Val missense NM_001408495.1:c.994C>G NP_001395424.1:p.Leu332Val missense NM_001408496.1:c.976C>G NP_001395425.1:p.Leu326Val missense NM_001408497.1:c.976C>G NP_001395426.1:p.Leu326Val missense NM_001408498.1:c.976C>G NP_001395427.1:p.Leu326Val missense NM_001408499.1:c.976C>G NP_001395428.1:p.Leu326Val missense NM_001408500.1:c.976C>G NP_001395429.1:p.Leu326Val missense NM_001408501.1:c.976C>G NP_001395430.1:p.Leu326Val missense NM_001408502.1:c.973C>G NP_001395431.1:p.Leu325Val missense NM_001408503.1:c.973C>G NP_001395432.1:p.Leu325Val missense NM_001408504.1:c.973C>G NP_001395433.1:p.Leu325Val missense NM_001408505.1:c.970C>G NP_001395434.1:p.Leu324Val missense NM_001408506.1:c.913C>G NP_001395435.1:p.Leu305Val missense NM_001408507.1:c.910C>G NP_001395436.1:p.Leu304Val missense NM_001408508.1:c.901C>G NP_001395437.1:p.Leu301Val missense NM_001408509.1:c.898C>G NP_001395438.1:p.Leu300Val missense NM_001408510.1:c.859C>G NP_001395439.1:p.Leu287Val missense NM_001408511.1:c.856C>G NP_001395440.1:p.Leu286Val missense NM_001408512.1:c.736C>G NP_001395441.1:p.Leu246Val missense NM_007297.4:c.4408C>G NP_009228.2:p.Leu1470Val missense NM_007298.4:c.1237C>G NP_009229.2:p.Leu413Val missense NM_007299.4:c.1237C>G NP_009230.2:p.Leu413Val missense NM_007300.4:c.4612C>G NP_009231.2:p.Leu1538Val missense NM_007304.2:c.1237C>G NP_009235.2:p.Leu413Val missense NR_027676.2:n.4726C>G non-coding transcript variant NC_000017.11:g.43074457G>C NC_000017.10:g.41226474G>C NG_005905.2:g.143527C>G LRG_292:g.143527C>G LRG_292t1:c.4549C>G LRG_292p1:p.Leu1517Val - Protein change
- L1517V, L1470V, L1538V, L413V, L1388V, L1406V, L1429V, L1474V, L1491V, L1514V, L300V, L301V, L305V, L344V, L347V, L369V, L374V, L388V, L412V, L1221V, L1390V, L1404V, L1447V, L1450V, L1468V, L1469V, L1490V, L1497V, L1513V, L1515V, L1516V, L1539V, L326V, L332V, L343V, L366V, L389V, L1220V, L1389V, L1405V, L1427V, L1428V, L1448V, L1476V, L1512V, L1537V, L286V, L287V, L334V, L342V, L346V, L367V, L373V, L375V, L387V, L410V, L411V, L414V, L649V, L1348V, L1445V, L1446V, L1473V, L1475V, L1489V, L1498V, L246V, L304V, L324V, L325V, L365V, L371V, L372V, L435V, L436V, L648V
- Other names
- -
- Canonical SPDI
- NC_000017.11:43074456:G:C
-
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 |
13041 | 14847 | |
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. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
|
Jan 4, 2019 | RCV000583784.5 |
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. |
|
|---|---|---|---|---|---|
|
Uncertain significance
(Jan 04, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000688505.3
First in ClinVar: Feb 19, 2018 Last updated: Jun 22, 2020 |
|
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
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 rs137894496 ...
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 Dec 25, 2023
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.