ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4672C>G (p.Leu1558Val)
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
-
NM_007294.4(BRCA1):c.4672C>G (p.Leu1558Val)
Variation ID: 479263 Accession: VCV000479263.17
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43074334 (GRCh38) [ NCBI UCSC ] 17: 41226351 (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 Jan 1, 2018 May 1, 2024 Feb 29, 2024 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.4672C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Leu1558Val missense NM_001407571.1:c.4459C>G NP_001394500.1:p.Leu1487Val missense NM_001407581.1:c.4738C>G NP_001394510.1:p.Leu1580Val missense NM_001407582.1:c.4738C>G NP_001394511.1:p.Leu1580Val missense NM_001407583.1:c.4735C>G NP_001394512.1:p.Leu1579Val missense NM_001407585.1:c.4735C>G NP_001394514.1:p.Leu1579Val missense NM_001407587.1:c.4735C>G NP_001394516.1:p.Leu1579Val missense NM_001407590.1:c.4732C>G NP_001394519.1:p.Leu1578Val missense NM_001407591.1:c.4732C>G NP_001394520.1:p.Leu1578Val missense NM_001407593.1:c.4672C>G NP_001394522.1:p.Leu1558Val missense NM_001407594.1:c.4672C>G NP_001394523.1:p.Leu1558Val missense NM_001407596.1:c.4672C>G NP_001394525.1:p.Leu1558Val missense NM_001407597.1:c.4672C>G NP_001394526.1:p.Leu1558Val missense NM_001407598.1:c.4672C>G NP_001394527.1:p.Leu1558Val missense NM_001407602.1:c.4672C>G NP_001394531.1:p.Leu1558Val missense NM_001407603.1:c.4672C>G NP_001394532.1:p.Leu1558Val missense NM_001407605.1:c.4672C>G NP_001394534.1:p.Leu1558Val missense NM_001407610.1:c.4669C>G NP_001394539.1:p.Leu1557Val missense NM_001407611.1:c.4669C>G NP_001394540.1:p.Leu1557Val missense NM_001407612.1:c.4669C>G NP_001394541.1:p.Leu1557Val missense NM_001407613.1:c.4669C>G NP_001394542.1:p.Leu1557Val missense NM_001407614.1:c.4669C>G NP_001394543.1:p.Leu1557Val missense NM_001407615.1:c.4669C>G NP_001394544.1:p.Leu1557Val missense NM_001407616.1:c.4669C>G NP_001394545.1:p.Leu1557Val missense NM_001407617.1:c.4669C>G NP_001394546.1:p.Leu1557Val missense NM_001407618.1:c.4669C>G NP_001394547.1:p.Leu1557Val missense NM_001407619.1:c.4669C>G NP_001394548.1:p.Leu1557Val missense NM_001407620.1:c.4669C>G NP_001394549.1:p.Leu1557Val missense NM_001407621.1:c.4669C>G NP_001394550.1:p.Leu1557Val missense NM_001407622.1:c.4669C>G NP_001394551.1:p.Leu1557Val missense NM_001407623.1:c.4669C>G NP_001394552.1:p.Leu1557Val missense NM_001407624.1:c.4669C>G NP_001394553.1:p.Leu1557Val missense NM_001407625.1:c.4669C>G NP_001394554.1:p.Leu1557Val missense NM_001407626.1:c.4669C>G NP_001394555.1:p.Leu1557Val missense NM_001407627.1:c.4666C>G NP_001394556.1:p.Leu1556Val missense NM_001407628.1:c.4666C>G NP_001394557.1:p.Leu1556Val missense NM_001407629.1:c.4666C>G NP_001394558.1:p.Leu1556Val missense NM_001407630.1:c.4666C>G NP_001394559.1:p.Leu1556Val missense NM_001407631.1:c.4666C>G NP_001394560.1:p.Leu1556Val missense NM_001407632.1:c.4666C>G NP_001394561.1:p.Leu1556Val missense NM_001407633.1:c.4666C>G NP_001394562.1:p.Leu1556Val missense NM_001407634.1:c.4666C>G NP_001394563.1:p.Leu1556Val missense NM_001407635.1:c.4666C>G NP_001394564.1:p.Leu1556Val missense NM_001407636.1:c.4666C>G NP_001394565.1:p.Leu1556Val missense NM_001407637.1:c.4666C>G NP_001394566.1:p.Leu1556Val missense NM_001407638.1:c.4666C>G NP_001394567.1:p.Leu1556Val missense NM_001407639.1:c.4666C>G NP_001394568.1:p.Leu1556Val missense NM_001407640.1:c.4666C>G NP_001394569.1:p.Leu1556Val missense NM_001407641.1:c.4666C>G NP_001394570.1:p.Leu1556Val missense NM_001407642.1:c.4666C>G NP_001394571.1:p.Leu1556Val missense NM_001407644.1:c.4663C>G NP_001394573.1:p.Leu1555Val missense NM_001407645.1:c.4663C>G NP_001394574.1:p.Leu1555Val missense NM_001407646.1:c.4660C>G NP_001394575.1:p.Leu1554Val missense NM_001407647.1:c.4657C>G NP_001394576.1:p.Leu1553Val missense NM_001407648.1:c.4615C>G NP_001394577.1:p.Leu1539Val missense NM_001407649.1:c.4612C>G NP_001394578.1:p.Leu1538Val missense NM_001407652.1:c.4672C>G NP_001394581.1:p.Leu1558Val missense NM_001407653.1:c.4594C>G NP_001394582.1:p.Leu1532Val missense NM_001407654.1:c.4594C>G NP_001394583.1:p.Leu1532Val missense NM_001407655.1:c.4594C>G NP_001394584.1:p.Leu1532Val missense NM_001407656.1:c.4591C>G NP_001394585.1:p.Leu1531Val missense NM_001407657.1:c.4591C>G NP_001394586.1:p.Leu1531Val missense NM_001407658.1:c.4591C>G NP_001394587.1:p.Leu1531Val missense NM_001407659.1:c.4588C>G NP_001394588.1:p.Leu1530Val missense NM_001407660.1:c.4588C>G NP_001394589.1:p.Leu1530Val missense NM_001407661.1:c.4588C>G NP_001394590.1:p.Leu1530Val missense NM_001407662.1:c.4588C>G NP_001394591.1:p.Leu1530Val missense NM_001407663.1:c.4588C>G NP_001394592.1:p.Leu1530Val missense NM_001407664.1:c.4549C>G NP_001394593.1:p.Leu1517Val missense NM_001407665.1:c.4549C>G NP_001394594.1:p.Leu1517Val missense NM_001407666.1:c.4549C>G NP_001394595.1:p.Leu1517Val missense NM_001407667.1:c.4549C>G NP_001394596.1:p.Leu1517Val missense NM_001407668.1:c.4549C>G NP_001394597.1:p.Leu1517Val missense NM_001407669.1:c.4549C>G NP_001394598.1:p.Leu1517Val missense NM_001407670.1:c.4546C>G NP_001394599.1:p.Leu1516Val missense NM_001407671.1:c.4546C>G NP_001394600.1:p.Leu1516Val missense NM_001407672.1:c.4546C>G NP_001394601.1:p.Leu1516Val missense NM_001407673.1:c.4546C>G NP_001394602.1:p.Leu1516Val missense NM_001407674.1:c.4546C>G NP_001394603.1:p.Leu1516Val missense NM_001407675.1:c.4546C>G NP_001394604.1:p.Leu1516Val missense NM_001407676.1:c.4546C>G NP_001394605.1:p.Leu1516Val missense NM_001407677.1:c.4546C>G NP_001394606.1:p.Leu1516Val missense NM_001407678.1:c.4546C>G NP_001394607.1:p.Leu1516Val missense NM_001407679.1:c.4546C>G NP_001394608.1:p.Leu1516Val missense NM_001407680.1:c.4546C>G NP_001394609.1:p.Leu1516Val missense NM_001407681.1:c.4543C>G NP_001394610.1:p.Leu1515Val missense NM_001407682.1:c.4543C>G NP_001394611.1:p.Leu1515Val missense NM_001407683.1:c.4543C>G NP_001394612.1:p.Leu1515Val missense NM_001407684.1:c.4672C>G NP_001394613.1:p.Leu1558Val missense NM_001407685.1:c.4543C>G NP_001394614.1:p.Leu1515Val missense NM_001407686.1:c.4543C>G NP_001394615.1:p.Leu1515Val missense NM_001407687.1:c.4543C>G NP_001394616.1:p.Leu1515Val missense NM_001407688.1:c.4543C>G NP_001394617.1:p.Leu1515Val missense NM_001407689.1:c.4543C>G NP_001394618.1:p.Leu1515Val missense NM_001407690.1:c.4540C>G NP_001394619.1:p.Leu1514Val missense NM_001407691.1:c.4540C>G NP_001394620.1:p.Leu1514Val missense NM_001407692.1:c.4531C>G NP_001394621.1:p.Leu1511Val missense NM_001407694.1:c.4531C>G NP_001394623.1:p.Leu1511Val missense NM_001407695.1:c.4531C>G NP_001394624.1:p.Leu1511Val missense NM_001407696.1:c.4531C>G NP_001394625.1:p.Leu1511Val missense NM_001407697.1:c.4531C>G NP_001394626.1:p.Leu1511Val missense NM_001407698.1:c.4531C>G NP_001394627.1:p.Leu1511Val missense NM_001407724.1:c.4531C>G NP_001394653.1:p.Leu1511Val missense NM_001407725.1:c.4531C>G NP_001394654.1:p.Leu1511Val missense NM_001407726.1:c.4531C>G NP_001394655.1:p.Leu1511Val missense NM_001407727.1:c.4531C>G NP_001394656.1:p.Leu1511Val missense NM_001407728.1:c.4531C>G NP_001394657.1:p.Leu1511Val missense NM_001407729.1:c.4531C>G NP_001394658.1:p.Leu1511Val missense NM_001407730.1:c.4531C>G NP_001394659.1:p.Leu1511Val missense NM_001407731.1:c.4531C>G NP_001394660.1:p.Leu1511Val missense NM_001407732.1:c.4528C>G NP_001394661.1:p.Leu1510Val missense NM_001407733.1:c.4528C>G NP_001394662.1:p.Leu1510Val missense NM_001407734.1:c.4528C>G NP_001394663.1:p.Leu1510Val missense NM_001407735.1:c.4528C>G NP_001394664.1:p.Leu1510Val missense NM_001407736.1:c.4528C>G NP_001394665.1:p.Leu1510Val missense NM_001407737.1:c.4528C>G NP_001394666.1:p.Leu1510Val missense NM_001407738.1:c.4528C>G NP_001394667.1:p.Leu1510Val missense NM_001407739.1:c.4528C>G NP_001394668.1:p.Leu1510Val missense NM_001407740.1:c.4528C>G NP_001394669.1:p.Leu1510Val missense NM_001407741.1:c.4528C>G NP_001394670.1:p.Leu1510Val missense NM_001407742.1:c.4528C>G NP_001394671.1:p.Leu1510Val missense NM_001407743.1:c.4528C>G NP_001394672.1:p.Leu1510Val missense NM_001407744.1:c.4528C>G NP_001394673.1:p.Leu1510Val missense NM_001407745.1:c.4528C>G NP_001394674.1:p.Leu1510Val missense NM_001407746.1:c.4528C>G NP_001394675.1:p.Leu1510Val missense NM_001407747.1:c.4528C>G NP_001394676.1:p.Leu1510Val missense NM_001407748.1:c.4528C>G NP_001394677.1:p.Leu1510Val missense NM_001407749.1:c.4528C>G NP_001394678.1:p.Leu1510Val missense NM_001407750.1:c.4528C>G NP_001394679.1:p.Leu1510Val missense NM_001407751.1:c.4528C>G NP_001394680.1:p.Leu1510Val missense NM_001407752.1:c.4528C>G NP_001394681.1:p.Leu1510Val missense NM_001407838.1:c.4525C>G NP_001394767.1:p.Leu1509Val missense NM_001407839.1:c.4525C>G NP_001394768.1:p.Leu1509Val missense NM_001407841.1:c.4525C>G NP_001394770.1:p.Leu1509Val missense NM_001407842.1:c.4525C>G NP_001394771.1:p.Leu1509Val missense NM_001407843.1:c.4525C>G NP_001394772.1:p.Leu1509Val missense NM_001407844.1:c.4525C>G NP_001394773.1:p.Leu1509Val missense NM_001407845.1:c.4525C>G NP_001394774.1:p.Leu1509Val missense NM_001407846.1:c.4525C>G NP_001394775.1:p.Leu1509Val missense NM_001407847.1:c.4525C>G NP_001394776.1:p.Leu1509Val missense NM_001407848.1:c.4525C>G NP_001394777.1:p.Leu1509Val missense NM_001407849.1:c.4525C>G NP_001394778.1:p.Leu1509Val missense NM_001407850.1:c.4525C>G NP_001394779.1:p.Leu1509Val missense NM_001407851.1:c.4525C>G NP_001394780.1:p.Leu1509Val missense NM_001407852.1:c.4525C>G NP_001394781.1:p.Leu1509Val missense NM_001407853.1:c.4525C>G NP_001394782.1:p.Leu1509Val missense NM_001407854.1:c.4672C>G NP_001394783.1:p.Leu1558Val missense NM_001407858.1:c.4669C>G NP_001394787.1:p.Leu1557Val missense NM_001407859.1:c.4669C>G NP_001394788.1:p.Leu1557Val missense NM_001407860.1:c.4669C>G NP_001394789.1:p.Leu1557Val missense NM_001407861.1:c.4666C>G NP_001394790.1:p.Leu1556Val missense NM_001407862.1:c.4471C>G NP_001394791.1:p.Leu1491Val missense NM_001407863.1:c.4546C>G NP_001394792.1:p.Leu1516Val missense NM_001407874.1:c.4465C>G NP_001394803.1:p.Leu1489Val missense NM_001407875.1:c.4465C>G NP_001394804.1:p.Leu1489Val missense NM_001407879.1:c.4462C>G NP_001394808.1:p.Leu1488Val missense NM_001407881.1:c.4462C>G NP_001394810.1:p.Leu1488Val missense NM_001407882.1:c.4462C>G NP_001394811.1:p.Leu1488Val missense NM_001407884.1:c.4462C>G NP_001394813.1:p.Leu1488Val missense NM_001407885.1:c.4462C>G NP_001394814.1:p.Leu1488Val missense NM_001407886.1:c.4462C>G NP_001394815.1:p.Leu1488Val missense NM_001407887.1:c.4462C>G NP_001394816.1:p.Leu1488Val missense NM_001407889.1:c.4462C>G NP_001394818.1:p.Leu1488Val missense NM_001407894.1:c.4459C>G NP_001394823.1:p.Leu1487Val missense NM_001407895.1:c.4459C>G NP_001394824.1:p.Leu1487Val missense NM_001407896.1:c.4459C>G NP_001394825.1:p.Leu1487Val missense NM_001407897.1:c.4459C>G NP_001394826.1:p.Leu1487Val missense NM_001407898.1:c.4459C>G NP_001394827.1:p.Leu1487Val missense NM_001407899.1:c.4459C>G NP_001394828.1:p.Leu1487Val missense NM_001407900.1:c.4459C>G NP_001394829.1:p.Leu1487Val missense NM_001407902.1:c.4459C>G NP_001394831.1:p.Leu1487Val missense NM_001407904.1:c.4459C>G NP_001394833.1:p.Leu1487Val missense NM_001407906.1:c.4459C>G NP_001394835.1:p.Leu1487Val missense NM_001407907.1:c.4459C>G NP_001394836.1:p.Leu1487Val missense NM_001407908.1:c.4459C>G NP_001394837.1:p.Leu1487Val missense NM_001407909.1:c.4459C>G NP_001394838.1:p.Leu1487Val missense NM_001407910.1:c.4459C>G NP_001394839.1:p.Leu1487Val missense NM_001407915.1:c.4456C>G NP_001394844.1:p.Leu1486Val missense NM_001407916.1:c.4456C>G NP_001394845.1:p.Leu1486Val missense NM_001407917.1:c.4456C>G NP_001394846.1:p.Leu1486Val missense NM_001407918.1:c.4456C>G NP_001394847.1:p.Leu1486Val missense NM_001407919.1:c.4549C>G NP_001394848.1:p.Leu1517Val missense NM_001407920.1:c.4408C>G NP_001394849.1:p.Leu1470Val missense NM_001407921.1:c.4408C>G NP_001394850.1:p.Leu1470Val missense NM_001407922.1:c.4408C>G NP_001394851.1:p.Leu1470Val missense NM_001407923.1:c.4408C>G NP_001394852.1:p.Leu1470Val missense NM_001407924.1:c.4408C>G NP_001394853.1:p.Leu1470Val missense NM_001407925.1:c.4408C>G NP_001394854.1:p.Leu1470Val missense NM_001407926.1:c.4408C>G NP_001394855.1:p.Leu1470Val missense NM_001407927.1:c.4405C>G NP_001394856.1:p.Leu1469Val missense NM_001407928.1:c.4405C>G NP_001394857.1:p.Leu1469Val missense NM_001407929.1:c.4405C>G NP_001394858.1:p.Leu1469Val missense NM_001407930.1:c.4405C>G NP_001394859.1:p.Leu1469Val missense NM_001407931.1:c.4405C>G NP_001394860.1:p.Leu1469Val missense NM_001407932.1:c.4405C>G NP_001394861.1:p.Leu1469Val missense NM_001407933.1:c.4405C>G NP_001394862.1:p.Leu1469Val missense NM_001407934.1:c.4402C>G NP_001394863.1:p.Leu1468Val missense NM_001407935.1:c.4402C>G NP_001394864.1:p.Leu1468Val missense NM_001407936.1:c.4402C>G NP_001394865.1:p.Leu1468Val missense NM_001407937.1:c.4549C>G NP_001394866.1:p.Leu1517Val missense NM_001407938.1:c.4549C>G NP_001394867.1:p.Leu1517Val missense NM_001407939.1:c.4546C>G NP_001394868.1:p.Leu1516Val missense NM_001407940.1:c.4546C>G NP_001394869.1:p.Leu1516Val missense NM_001407941.1:c.4543C>G NP_001394870.1:p.Leu1515Val missense NM_001407942.1:c.4531C>G NP_001394871.1:p.Leu1511Val missense NM_001407943.1:c.4528C>G NP_001394872.1:p.Leu1510Val missense NM_001407944.1:c.4528C>G NP_001394873.1:p.Leu1510Val missense NM_001407945.1:c.4528C>G NP_001394874.1:p.Leu1510Val missense NM_001407946.1:c.4339C>G NP_001394875.1:p.Leu1447Val missense NM_001407947.1:c.4339C>G NP_001394876.1:p.Leu1447Val missense NM_001407948.1:c.4339C>G NP_001394877.1:p.Leu1447Val missense NM_001407949.1:c.4339C>G NP_001394878.1:p.Leu1447Val missense NM_001407950.1:c.4336C>G NP_001394879.1:p.Leu1446Val missense NM_001407951.1:c.4336C>G NP_001394880.1:p.Leu1446Val missense NM_001407952.1:c.4336C>G NP_001394881.1:p.Leu1446Val missense NM_001407953.1:c.4336C>G NP_001394882.1:p.Leu1446Val missense NM_001407954.1:c.4336C>G NP_001394883.1:p.Leu1446Val missense NM_001407955.1:c.4336C>G NP_001394884.1:p.Leu1446Val missense NM_001407956.1:c.4333C>G NP_001394885.1:p.Leu1445Val missense NM_001407957.1:c.4333C>G NP_001394886.1:p.Leu1445Val missense NM_001407958.1:c.4333C>G NP_001394887.1:p.Leu1445Val missense NM_001407959.1:c.4291C>G NP_001394888.1:p.Leu1431Val missense NM_001407960.1:c.4288C>G NP_001394889.1:p.Leu1430Val missense NM_001407962.1:c.4288C>G NP_001394891.1:p.Leu1430Val missense NM_001407963.1:c.4285C>G NP_001394892.1:p.Leu1429Val missense NM_001407965.1:c.4165C>G NP_001394894.1:p.Leu1389Val missense NM_001407966.1:c.3784C>G NP_001394895.1:p.Leu1262Val missense NM_001407967.1:c.3781C>G NP_001394896.1:p.Leu1261Val missense NM_001407968.1:c.2068C>G NP_001394897.1:p.Leu690Val missense NM_001407969.1:c.2065C>G NP_001394898.1:p.Leu689Val missense NM_001407970.1:c.1429C>G NP_001394899.1:p.Leu477Val missense NM_001407971.1:c.1429C>G NP_001394900.1:p.Leu477Val missense NM_001407972.1:c.1426C>G NP_001394901.1:p.Leu476Val missense NM_001407973.1:c.1363C>G NP_001394902.1:p.Leu455Val missense NM_001407974.1:c.1363C>G NP_001394903.1:p.Leu455Val missense NM_001407975.1:c.1363C>G NP_001394904.1:p.Leu455Val missense NM_001407976.1:c.1363C>G NP_001394905.1:p.Leu455Val missense NM_001407977.1:c.1363C>G NP_001394906.1:p.Leu455Val missense NM_001407978.1:c.1363C>G NP_001394907.1:p.Leu455Val missense NM_001407979.1:c.1360C>G NP_001394908.1:p.Leu454Val missense NM_001407980.1:c.1360C>G NP_001394909.1:p.Leu454Val missense NM_001407981.1:c.1360C>G NP_001394910.1:p.Leu454Val missense NM_001407982.1:c.1360C>G NP_001394911.1:p.Leu454Val missense NM_001407983.1:c.1360C>G NP_001394912.1:p.Leu454Val missense NM_001407984.1:c.1360C>G NP_001394913.1:p.Leu454Val missense NM_001407985.1:c.1360C>G NP_001394914.1:p.Leu454Val missense NM_001407986.1:c.1360C>G NP_001394915.1:p.Leu454Val missense NM_001407990.1:c.1360C>G NP_001394919.1:p.Leu454Val missense NM_001407991.1:c.1360C>G NP_001394920.1:p.Leu454Val missense NM_001407992.1:c.1360C>G NP_001394921.1:p.Leu454Val missense NM_001407993.1:c.1360C>G NP_001394922.1:p.Leu454Val missense NM_001408392.1:c.1357C>G NP_001395321.1:p.Leu453Val missense NM_001408396.1:c.1357C>G NP_001395325.1:p.Leu453Val missense NM_001408397.1:c.1357C>G NP_001395326.1:p.Leu453Val missense NM_001408398.1:c.1357C>G NP_001395327.1:p.Leu453Val missense NM_001408399.1:c.1357C>G NP_001395328.1:p.Leu453Val missense NM_001408400.1:c.1357C>G NP_001395329.1:p.Leu453Val missense NM_001408401.1:c.1357C>G NP_001395330.1:p.Leu453Val missense NM_001408402.1:c.1357C>G NP_001395331.1:p.Leu453Val missense NM_001408403.1:c.1357C>G NP_001395332.1:p.Leu453Val missense NM_001408404.1:c.1357C>G NP_001395333.1:p.Leu453Val missense NM_001408406.1:c.1354C>G NP_001395335.1:p.Leu452Val missense NM_001408407.1:c.1354C>G NP_001395336.1:p.Leu452Val missense NM_001408408.1:c.1354C>G NP_001395337.1:p.Leu452Val missense NM_001408409.1:c.1351C>G NP_001395338.1:p.Leu451Val missense NM_001408410.1:c.1288C>G NP_001395339.1:p.Leu430Val missense NM_001408411.1:c.1285C>G NP_001395340.1:p.Leu429Val missense NM_001408412.1:c.1282C>G NP_001395341.1:p.Leu428Val missense NM_001408413.1:c.1282C>G NP_001395342.1:p.Leu428Val missense NM_001408414.1:c.1282C>G NP_001395343.1:p.Leu428Val missense NM_001408415.1:c.1282C>G NP_001395344.1:p.Leu428Val missense NM_001408416.1:c.1282C>G NP_001395345.1:p.Leu428Val missense NM_001408418.1:c.1246C>G NP_001395347.1:p.Leu416Val missense NM_001408419.1:c.1246C>G NP_001395348.1:p.Leu416Val missense NM_001408420.1:c.1246C>G NP_001395349.1:p.Leu416Val missense NM_001408421.1:c.1243C>G NP_001395350.1:p.Leu415Val missense NM_001408422.1:c.1243C>G NP_001395351.1:p.Leu415Val missense NM_001408423.1:c.1243C>G NP_001395352.1:p.Leu415Val missense NM_001408424.1:c.1243C>G NP_001395353.1:p.Leu415Val missense NM_001408425.1:c.1240C>G NP_001395354.1:p.Leu414Val missense NM_001408426.1:c.1240C>G NP_001395355.1:p.Leu414Val missense NM_001408427.1:c.1240C>G NP_001395356.1:p.Leu414Val missense NM_001408428.1:c.1240C>G NP_001395357.1:p.Leu414Val missense NM_001408429.1:c.1240C>G NP_001395358.1:p.Leu414Val missense NM_001408430.1:c.1240C>G NP_001395359.1:p.Leu414Val missense NM_001408431.1:c.1240C>G NP_001395360.1:p.Leu414Val missense NM_001408432.1:c.1237C>G NP_001395361.1:p.Leu413Val missense NM_001408433.1:c.1237C>G NP_001395362.1:p.Leu413Val missense NM_001408434.1:c.1237C>G NP_001395363.1:p.Leu413Val missense NM_001408435.1:c.1237C>G NP_001395364.1:p.Leu413Val missense NM_001408436.1:c.1237C>G NP_001395365.1:p.Leu413Val missense NM_001408437.1:c.1237C>G NP_001395366.1:p.Leu413Val missense NM_001408438.1:c.1237C>G NP_001395367.1:p.Leu413Val missense NM_001408439.1:c.1237C>G NP_001395368.1:p.Leu413Val missense NM_001408440.1:c.1237C>G NP_001395369.1:p.Leu413Val missense NM_001408441.1:c.1237C>G NP_001395370.1:p.Leu413Val missense NM_001408442.1:c.1237C>G NP_001395371.1:p.Leu413Val missense NM_001408443.1:c.1237C>G NP_001395372.1:p.Leu413Val missense NM_001408444.1:c.1237C>G NP_001395373.1:p.Leu413Val missense NM_001408445.1:c.1234C>G NP_001395374.1:p.Leu412Val missense NM_001408446.1:c.1234C>G NP_001395375.1:p.Leu412Val missense NM_001408447.1:c.1234C>G NP_001395376.1:p.Leu412Val missense NM_001408448.1:c.1234C>G NP_001395377.1:p.Leu412Val missense NM_001408450.1:c.1234C>G NP_001395379.1:p.Leu412Val missense NM_001408451.1:c.1228C>G NP_001395380.1:p.Leu410Val missense NM_001408452.1:c.1222C>G NP_001395381.1:p.Leu408Val missense NM_001408453.1:c.1222C>G NP_001395382.1:p.Leu408Val missense NM_001408454.1:c.1222C>G NP_001395383.1:p.Leu408Val missense NM_001408455.1:c.1222C>G NP_001395384.1:p.Leu408Val missense NM_001408456.1:c.1222C>G NP_001395385.1:p.Leu408Val missense NM_001408457.1:c.1222C>G NP_001395386.1:p.Leu408Val missense NM_001408458.1:c.1219C>G NP_001395387.1:p.Leu407Val missense NM_001408459.1:c.1219C>G NP_001395388.1:p.Leu407Val missense NM_001408460.1:c.1219C>G NP_001395389.1:p.Leu407Val missense NM_001408461.1:c.1219C>G NP_001395390.1:p.Leu407Val missense NM_001408462.1:c.1219C>G NP_001395391.1:p.Leu407Val missense NM_001408463.1:c.1219C>G NP_001395392.1:p.Leu407Val missense NM_001408464.1:c.1219C>G NP_001395393.1:p.Leu407Val missense NM_001408465.1:c.1219C>G NP_001395394.1:p.Leu407Val missense NM_001408466.1:c.1219C>G NP_001395395.1:p.Leu407Val missense NM_001408467.1:c.1219C>G NP_001395396.1:p.Leu407Val missense NM_001408468.1:c.1216C>G NP_001395397.1:p.Leu406Val missense NM_001408469.1:c.1216C>G NP_001395398.1:p.Leu406Val missense NM_001408470.1:c.1216C>G NP_001395399.1:p.Leu406Val missense NM_001408472.1:c.1360C>G NP_001395401.1:p.Leu454Val missense NM_001408473.1:c.1357C>G NP_001395402.1:p.Leu453Val missense NM_001408474.1:c.1162C>G NP_001395403.1:p.Leu388Val missense NM_001408475.1:c.1159C>G NP_001395404.1:p.Leu387Val missense NM_001408476.1:c.1159C>G NP_001395405.1:p.Leu387Val missense NM_001408478.1:c.1153C>G NP_001395407.1:p.Leu385Val missense NM_001408479.1:c.1153C>G NP_001395408.1:p.Leu385Val missense NM_001408480.1:c.1153C>G NP_001395409.1:p.Leu385Val missense NM_001408481.1:c.1150C>G NP_001395410.1:p.Leu384Val missense NM_001408482.1:c.1150C>G NP_001395411.1:p.Leu384Val missense NM_001408483.1:c.1150C>G NP_001395412.1:p.Leu384Val missense NM_001408484.1:c.1150C>G NP_001395413.1:p.Leu384Val missense NM_001408485.1:c.1150C>G NP_001395414.1:p.Leu384Val missense NM_001408489.1:c.1150C>G NP_001395418.1:p.Leu384Val missense NM_001408490.1:c.1150C>G NP_001395419.1:p.Leu384Val missense NM_001408491.1:c.1150C>G NP_001395420.1:p.Leu384Val missense NM_001408492.1:c.1147C>G NP_001395421.1:p.Leu383Val missense NM_001408493.1:c.1147C>G NP_001395422.1:p.Leu383Val missense NM_001408494.1:c.1123C>G NP_001395423.1:p.Leu375Val missense NM_001408495.1:c.1117C>G NP_001395424.1:p.Leu373Val missense NM_001408496.1:c.1099C>G NP_001395425.1:p.Leu367Val missense NM_001408497.1:c.1099C>G NP_001395426.1:p.Leu367Val missense NM_001408498.1:c.1099C>G NP_001395427.1:p.Leu367Val missense NM_001408499.1:c.1099C>G NP_001395428.1:p.Leu367Val missense NM_001408500.1:c.1099C>G NP_001395429.1:p.Leu367Val missense NM_001408501.1:c.1099C>G NP_001395430.1:p.Leu367Val missense NM_001408502.1:c.1096C>G NP_001395431.1:p.Leu366Val missense NM_001408503.1:c.1096C>G NP_001395432.1:p.Leu366Val missense NM_001408504.1:c.1096C>G NP_001395433.1:p.Leu366Val missense NM_001408505.1:c.1093C>G NP_001395434.1:p.Leu365Val missense NM_001408506.1:c.1036C>G NP_001395435.1:p.Leu346Val missense NM_001408507.1:c.1033C>G NP_001395436.1:p.Leu345Val missense NM_001408508.1:c.1024C>G NP_001395437.1:p.Leu342Val missense NM_001408509.1:c.1021C>G NP_001395438.1:p.Leu341Val missense NM_001408510.1:c.982C>G NP_001395439.1:p.Leu328Val missense NM_001408511.1:c.979C>G NP_001395440.1:p.Leu327Val missense NM_001408512.1:c.859C>G NP_001395441.1:p.Leu287Val missense NM_007297.4:c.4531C>G NP_009228.2:p.Leu1511Val missense NM_007298.4:c.1360C>G NP_009229.2:p.Leu454Val missense NM_007299.4:c.1360C>G NP_009230.2:p.Leu454Val missense NM_007300.4:c.4735C>G NP_009231.2:p.Leu1579Val missense NM_007304.2:c.1360C>G NP_009235.2:p.Leu454Val missense NR_027676.2:n.4849C>G non-coding transcript variant NC_000017.11:g.43074334G>C NC_000017.10:g.41226351G>C NG_005905.2:g.143650C>G LRG_292:g.143650C>G LRG_292t1:c.4672C>G LRG_292p1:p.Leu1558Val - Protein change
- L1558V, L1579V, L1511V, L454V, L1429V, L1469V, L1509V, L1532V, L1538V, L1555V, L1556V, L1578V, L341V, L346V, L385V, L410V, L429V, L430V, L455V, L690V, L1261V, L1262V, L1431V, L1446V, L1486V, L1514V, L1531V, L1539V, L1553V, L1557V, L287V, L1430V, L1445V, L1468V, L1488V, L1489V, L1515V, L1516V, L328V, L345V, L406V, L408V, L414V, L415V, L451V, L366V, L367V, L373V, L387V, L412V, L416V, L453V, L1389V, L1447V, L1470V, L1487V, L1491V, L1510V, L1517V, L1530V, L1554V, L1580V, L327V, L342V, L365V, L375V, L383V, L384V, L388V, L407V, L413V, L428V, L452V, L476V, L477V, L689V
- Other names
- -
- Canonical SPDI
- NC_000017.11:43074333: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.
-
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 |
12940 | 14730 |
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 (2) |
criteria provided, multiple submitters, no conflicts
|
Feb 29, 2024 | RCV000574207.8 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Sep 6, 2023 | RCV000637598.7 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Dec 11, 2021 | RCV003459279.1 |
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. |
|
---|---|---|---|---|---|
Uncertain significance
(Feb 29, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000661133.5
First in ClinVar: Jan 01, 2018 Last updated: May 01, 2024 |
Comment:
The p.L1558V variant (also known as c.4672C>G), located in coding exon 13 of the BRCA1 gene, results from a C to G substitution at nucleotide … (more)
The p.L1558V variant (also known as c.4672C>G), located in coding exon 13 of the BRCA1 gene, results from a C to G substitution at nucleotide position 4672. The leucine at codon 1558 is replaced by valine, an amino acid with highly similar properties. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice donor site; however, direct evidence is insufficient at this time (Ambry internal data). This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for the missense impact of this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear. (less)
|
|
Uncertain significance
(Oct 13, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000913132.3
First in ClinVar: May 20, 2019 Last updated: Jun 19, 2021 |
Comment:
This missense variant replaces leucine with valine at codon 1558 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
This missense variant replaces leucine with valine at codon 1558 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
|
|
Uncertain significance
(Sep 06, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000759064.4
First in ClinVar: May 28, 2018 Last updated: Feb 14, 2024 |
Comment:
ClinVar contains an entry for this variant (Variation ID: 479263). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. … (more)
ClinVar contains an entry for this variant (Variation ID: 479263). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1558 of the BRCA1 protein (p.Leu1558Val). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. (less)
|
|
Uncertain significance
(Dec 11, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004217018.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
|
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 rs1555581794 ...
HelpRecord last updated Jul 15, 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.