ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4675G>A (p.Glu1559Lys)
Variation ID: 37604 Accession: VCV000037604.27
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43074331 (GRCh38) [ NCBI UCSC ] 17: 41226348 (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 Apr 1, 2014 May 1, 2024 Jun 18, 2019 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4675G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu1559Lys missense NM_001407571.1:c.4462G>A NP_001394500.1:p.Glu1488Lys missense NM_001407581.1:c.4741G>A NP_001394510.1:p.Glu1581Lys missense NM_001407582.1:c.4741G>A NP_001394511.1:p.Glu1581Lys missense NM_001407583.1:c.4738G>A NP_001394512.1:p.Glu1580Lys missense NM_001407585.1:c.4738G>A NP_001394514.1:p.Glu1580Lys missense NM_001407587.1:c.4738G>A NP_001394516.1:p.Glu1580Lys missense NM_001407590.1:c.4735G>A NP_001394519.1:p.Glu1579Lys missense NM_001407591.1:c.4735G>A NP_001394520.1:p.Glu1579Lys missense NM_001407593.1:c.4675G>A NP_001394522.1:p.Glu1559Lys missense NM_001407594.1:c.4675G>A NP_001394523.1:p.Glu1559Lys missense NM_001407596.1:c.4675G>A NP_001394525.1:p.Glu1559Lys missense NM_001407597.1:c.4675G>A NP_001394526.1:p.Glu1559Lys missense NM_001407598.1:c.4675G>A NP_001394527.1:p.Glu1559Lys missense NM_001407602.1:c.4675G>A NP_001394531.1:p.Glu1559Lys missense NM_001407603.1:c.4675G>A NP_001394532.1:p.Glu1559Lys missense NM_001407605.1:c.4675G>A NP_001394534.1:p.Glu1559Lys missense NM_001407610.1:c.4672G>A NP_001394539.1:p.Glu1558Lys missense NM_001407611.1:c.4672G>A NP_001394540.1:p.Glu1558Lys missense NM_001407612.1:c.4672G>A NP_001394541.1:p.Glu1558Lys missense NM_001407613.1:c.4672G>A NP_001394542.1:p.Glu1558Lys missense NM_001407614.1:c.4672G>A NP_001394543.1:p.Glu1558Lys missense NM_001407615.1:c.4672G>A NP_001394544.1:p.Glu1558Lys missense NM_001407616.1:c.4672G>A NP_001394545.1:p.Glu1558Lys missense NM_001407617.1:c.4672G>A NP_001394546.1:p.Glu1558Lys missense NM_001407618.1:c.4672G>A NP_001394547.1:p.Glu1558Lys missense NM_001407619.1:c.4672G>A NP_001394548.1:p.Glu1558Lys missense NM_001407620.1:c.4672G>A NP_001394549.1:p.Glu1558Lys missense NM_001407621.1:c.4672G>A NP_001394550.1:p.Glu1558Lys missense NM_001407622.1:c.4672G>A NP_001394551.1:p.Glu1558Lys missense NM_001407623.1:c.4672G>A NP_001394552.1:p.Glu1558Lys missense NM_001407624.1:c.4672G>A NP_001394553.1:p.Glu1558Lys missense NM_001407625.1:c.4672G>A NP_001394554.1:p.Glu1558Lys missense NM_001407626.1:c.4672G>A NP_001394555.1:p.Glu1558Lys missense NM_001407627.1:c.4669G>A NP_001394556.1:p.Glu1557Lys missense NM_001407628.1:c.4669G>A NP_001394557.1:p.Glu1557Lys missense NM_001407629.1:c.4669G>A NP_001394558.1:p.Glu1557Lys missense NM_001407630.1:c.4669G>A NP_001394559.1:p.Glu1557Lys missense NM_001407631.1:c.4669G>A NP_001394560.1:p.Glu1557Lys missense NM_001407632.1:c.4669G>A NP_001394561.1:p.Glu1557Lys missense NM_001407633.1:c.4669G>A NP_001394562.1:p.Glu1557Lys missense NM_001407634.1:c.4669G>A NP_001394563.1:p.Glu1557Lys missense NM_001407635.1:c.4669G>A NP_001394564.1:p.Glu1557Lys missense NM_001407636.1:c.4669G>A NP_001394565.1:p.Glu1557Lys missense NM_001407637.1:c.4669G>A NP_001394566.1:p.Glu1557Lys missense NM_001407638.1:c.4669G>A NP_001394567.1:p.Glu1557Lys missense NM_001407639.1:c.4669G>A NP_001394568.1:p.Glu1557Lys missense NM_001407640.1:c.4669G>A NP_001394569.1:p.Glu1557Lys missense NM_001407641.1:c.4669G>A NP_001394570.1:p.Glu1557Lys missense NM_001407642.1:c.4669G>A NP_001394571.1:p.Glu1557Lys missense NM_001407644.1:c.4666G>A NP_001394573.1:p.Glu1556Lys missense NM_001407645.1:c.4666G>A NP_001394574.1:p.Glu1556Lys missense NM_001407646.1:c.4663G>A NP_001394575.1:p.Glu1555Lys missense NM_001407647.1:c.4660G>A NP_001394576.1:p.Glu1554Lys missense NM_001407648.1:c.4618G>A NP_001394577.1:p.Glu1540Lys missense NM_001407649.1:c.4615G>A NP_001394578.1:p.Glu1539Lys missense NM_001407652.1:c.4675G>A NP_001394581.1:p.Glu1559Lys missense NM_001407653.1:c.4597G>A NP_001394582.1:p.Glu1533Lys missense NM_001407654.1:c.4597G>A NP_001394583.1:p.Glu1533Lys missense NM_001407655.1:c.4597G>A NP_001394584.1:p.Glu1533Lys missense NM_001407656.1:c.4594G>A NP_001394585.1:p.Glu1532Lys missense NM_001407657.1:c.4594G>A NP_001394586.1:p.Glu1532Lys missense NM_001407658.1:c.4594G>A NP_001394587.1:p.Glu1532Lys missense NM_001407659.1:c.4591G>A NP_001394588.1:p.Glu1531Lys missense NM_001407660.1:c.4591G>A NP_001394589.1:p.Glu1531Lys missense NM_001407661.1:c.4591G>A NP_001394590.1:p.Glu1531Lys missense NM_001407662.1:c.4591G>A NP_001394591.1:p.Glu1531Lys missense NM_001407663.1:c.4591G>A NP_001394592.1:p.Glu1531Lys missense NM_001407664.1:c.4552G>A NP_001394593.1:p.Glu1518Lys missense NM_001407665.1:c.4552G>A NP_001394594.1:p.Glu1518Lys missense NM_001407666.1:c.4552G>A NP_001394595.1:p.Glu1518Lys missense NM_001407667.1:c.4552G>A NP_001394596.1:p.Glu1518Lys missense NM_001407668.1:c.4552G>A NP_001394597.1:p.Glu1518Lys missense NM_001407669.1:c.4552G>A NP_001394598.1:p.Glu1518Lys missense NM_001407670.1:c.4549G>A NP_001394599.1:p.Glu1517Lys missense NM_001407671.1:c.4549G>A NP_001394600.1:p.Glu1517Lys missense NM_001407672.1:c.4549G>A NP_001394601.1:p.Glu1517Lys missense NM_001407673.1:c.4549G>A NP_001394602.1:p.Glu1517Lys missense NM_001407674.1:c.4549G>A NP_001394603.1:p.Glu1517Lys missense NM_001407675.1:c.4549G>A NP_001394604.1:p.Glu1517Lys missense NM_001407676.1:c.4549G>A NP_001394605.1:p.Glu1517Lys missense NM_001407677.1:c.4549G>A NP_001394606.1:p.Glu1517Lys missense NM_001407678.1:c.4549G>A NP_001394607.1:p.Glu1517Lys missense NM_001407679.1:c.4549G>A NP_001394608.1:p.Glu1517Lys missense NM_001407680.1:c.4549G>A NP_001394609.1:p.Glu1517Lys missense NM_001407681.1:c.4546G>A NP_001394610.1:p.Glu1516Lys missense NM_001407682.1:c.4546G>A NP_001394611.1:p.Glu1516Lys missense NM_001407683.1:c.4546G>A NP_001394612.1:p.Glu1516Lys missense NM_001407684.1:c.4675G>A NP_001394613.1:p.Glu1559Lys missense NM_001407685.1:c.4546G>A NP_001394614.1:p.Glu1516Lys missense NM_001407686.1:c.4546G>A NP_001394615.1:p.Glu1516Lys missense NM_001407687.1:c.4546G>A NP_001394616.1:p.Glu1516Lys missense NM_001407688.1:c.4546G>A NP_001394617.1:p.Glu1516Lys missense NM_001407689.1:c.4546G>A NP_001394618.1:p.Glu1516Lys missense NM_001407690.1:c.4543G>A NP_001394619.1:p.Glu1515Lys missense NM_001407691.1:c.4543G>A NP_001394620.1:p.Glu1515Lys missense NM_001407692.1:c.4534G>A NP_001394621.1:p.Glu1512Lys missense NM_001407694.1:c.4534G>A NP_001394623.1:p.Glu1512Lys missense NM_001407695.1:c.4534G>A NP_001394624.1:p.Glu1512Lys missense NM_001407696.1:c.4534G>A NP_001394625.1:p.Glu1512Lys missense NM_001407697.1:c.4534G>A NP_001394626.1:p.Glu1512Lys missense NM_001407698.1:c.4534G>A NP_001394627.1:p.Glu1512Lys missense NM_001407724.1:c.4534G>A NP_001394653.1:p.Glu1512Lys missense NM_001407725.1:c.4534G>A NP_001394654.1:p.Glu1512Lys missense NM_001407726.1:c.4534G>A NP_001394655.1:p.Glu1512Lys missense NM_001407727.1:c.4534G>A NP_001394656.1:p.Glu1512Lys missense NM_001407728.1:c.4534G>A NP_001394657.1:p.Glu1512Lys missense NM_001407729.1:c.4534G>A NP_001394658.1:p.Glu1512Lys missense NM_001407730.1:c.4534G>A NP_001394659.1:p.Glu1512Lys missense NM_001407731.1:c.4534G>A NP_001394660.1:p.Glu1512Lys missense NM_001407732.1:c.4531G>A NP_001394661.1:p.Glu1511Lys missense NM_001407733.1:c.4531G>A NP_001394662.1:p.Glu1511Lys missense NM_001407734.1:c.4531G>A NP_001394663.1:p.Glu1511Lys missense NM_001407735.1:c.4531G>A NP_001394664.1:p.Glu1511Lys missense NM_001407736.1:c.4531G>A NP_001394665.1:p.Glu1511Lys missense NM_001407737.1:c.4531G>A NP_001394666.1:p.Glu1511Lys missense NM_001407738.1:c.4531G>A NP_001394667.1:p.Glu1511Lys missense NM_001407739.1:c.4531G>A NP_001394668.1:p.Glu1511Lys missense NM_001407740.1:c.4531G>A NP_001394669.1:p.Glu1511Lys missense NM_001407741.1:c.4531G>A NP_001394670.1:p.Glu1511Lys missense NM_001407742.1:c.4531G>A NP_001394671.1:p.Glu1511Lys missense NM_001407743.1:c.4531G>A NP_001394672.1:p.Glu1511Lys missense NM_001407744.1:c.4531G>A NP_001394673.1:p.Glu1511Lys missense NM_001407745.1:c.4531G>A NP_001394674.1:p.Glu1511Lys missense NM_001407746.1:c.4531G>A NP_001394675.1:p.Glu1511Lys missense NM_001407747.1:c.4531G>A NP_001394676.1:p.Glu1511Lys missense NM_001407748.1:c.4531G>A NP_001394677.1:p.Glu1511Lys missense NM_001407749.1:c.4531G>A NP_001394678.1:p.Glu1511Lys missense NM_001407750.1:c.4531G>A NP_001394679.1:p.Glu1511Lys missense NM_001407751.1:c.4531G>A NP_001394680.1:p.Glu1511Lys missense NM_001407752.1:c.4531G>A NP_001394681.1:p.Glu1511Lys missense NM_001407838.1:c.4528G>A NP_001394767.1:p.Glu1510Lys missense NM_001407839.1:c.4528G>A NP_001394768.1:p.Glu1510Lys missense NM_001407841.1:c.4528G>A NP_001394770.1:p.Glu1510Lys missense NM_001407842.1:c.4528G>A NP_001394771.1:p.Glu1510Lys missense NM_001407843.1:c.4528G>A NP_001394772.1:p.Glu1510Lys missense NM_001407844.1:c.4528G>A NP_001394773.1:p.Glu1510Lys missense NM_001407845.1:c.4528G>A NP_001394774.1:p.Glu1510Lys missense NM_001407846.1:c.4528G>A NP_001394775.1:p.Glu1510Lys missense NM_001407847.1:c.4528G>A NP_001394776.1:p.Glu1510Lys missense NM_001407848.1:c.4528G>A NP_001394777.1:p.Glu1510Lys missense NM_001407849.1:c.4528G>A NP_001394778.1:p.Glu1510Lys missense NM_001407850.1:c.4528G>A NP_001394779.1:p.Glu1510Lys missense NM_001407851.1:c.4528G>A NP_001394780.1:p.Glu1510Lys missense NM_001407852.1:c.4528G>A NP_001394781.1:p.Glu1510Lys missense NM_001407853.1:c.4528G>A NP_001394782.1:p.Glu1510Lys missense NM_001407854.1:c.4675G>A NP_001394783.1:p.Glu1559Lys missense NM_001407858.1:c.4672G>A NP_001394787.1:p.Glu1558Lys missense NM_001407859.1:c.4672G>A NP_001394788.1:p.Glu1558Lys missense NM_001407860.1:c.4672G>A NP_001394789.1:p.Glu1558Lys missense NM_001407861.1:c.4669G>A NP_001394790.1:p.Glu1557Lys missense NM_001407862.1:c.4474G>A NP_001394791.1:p.Glu1492Lys missense NM_001407863.1:c.4549G>A NP_001394792.1:p.Glu1517Lys missense NM_001407874.1:c.4468G>A NP_001394803.1:p.Glu1490Lys missense NM_001407875.1:c.4468G>A NP_001394804.1:p.Glu1490Lys missense NM_001407879.1:c.4465G>A NP_001394808.1:p.Glu1489Lys missense NM_001407881.1:c.4465G>A NP_001394810.1:p.Glu1489Lys missense NM_001407882.1:c.4465G>A NP_001394811.1:p.Glu1489Lys missense NM_001407884.1:c.4465G>A NP_001394813.1:p.Glu1489Lys missense NM_001407885.1:c.4465G>A NP_001394814.1:p.Glu1489Lys missense NM_001407886.1:c.4465G>A NP_001394815.1:p.Glu1489Lys missense NM_001407887.1:c.4465G>A NP_001394816.1:p.Glu1489Lys missense NM_001407889.1:c.4465G>A NP_001394818.1:p.Glu1489Lys missense NM_001407894.1:c.4462G>A NP_001394823.1:p.Glu1488Lys missense NM_001407895.1:c.4462G>A NP_001394824.1:p.Glu1488Lys missense NM_001407896.1:c.4462G>A NP_001394825.1:p.Glu1488Lys missense NM_001407897.1:c.4462G>A NP_001394826.1:p.Glu1488Lys missense NM_001407898.1:c.4462G>A NP_001394827.1:p.Glu1488Lys missense NM_001407899.1:c.4462G>A NP_001394828.1:p.Glu1488Lys missense NM_001407900.1:c.4462G>A NP_001394829.1:p.Glu1488Lys missense NM_001407902.1:c.4462G>A NP_001394831.1:p.Glu1488Lys missense NM_001407904.1:c.4462G>A NP_001394833.1:p.Glu1488Lys missense NM_001407906.1:c.4462G>A NP_001394835.1:p.Glu1488Lys missense NM_001407907.1:c.4462G>A NP_001394836.1:p.Glu1488Lys missense NM_001407908.1:c.4462G>A NP_001394837.1:p.Glu1488Lys missense NM_001407909.1:c.4462G>A NP_001394838.1:p.Glu1488Lys missense NM_001407910.1:c.4462G>A NP_001394839.1:p.Glu1488Lys missense NM_001407915.1:c.4459G>A NP_001394844.1:p.Glu1487Lys missense NM_001407916.1:c.4459G>A NP_001394845.1:p.Glu1487Lys missense NM_001407917.1:c.4459G>A NP_001394846.1:p.Glu1487Lys missense NM_001407918.1:c.4459G>A NP_001394847.1:p.Glu1487Lys missense NM_001407919.1:c.4552G>A NP_001394848.1:p.Glu1518Lys missense NM_001407920.1:c.4411G>A NP_001394849.1:p.Glu1471Lys missense NM_001407921.1:c.4411G>A NP_001394850.1:p.Glu1471Lys missense NM_001407922.1:c.4411G>A NP_001394851.1:p.Glu1471Lys missense NM_001407923.1:c.4411G>A NP_001394852.1:p.Glu1471Lys missense NM_001407924.1:c.4411G>A NP_001394853.1:p.Glu1471Lys missense NM_001407925.1:c.4411G>A NP_001394854.1:p.Glu1471Lys missense NM_001407926.1:c.4411G>A NP_001394855.1:p.Glu1471Lys missense NM_001407927.1:c.4408G>A NP_001394856.1:p.Glu1470Lys missense NM_001407928.1:c.4408G>A NP_001394857.1:p.Glu1470Lys missense NM_001407929.1:c.4408G>A NP_001394858.1:p.Glu1470Lys missense NM_001407930.1:c.4408G>A NP_001394859.1:p.Glu1470Lys missense NM_001407931.1:c.4408G>A NP_001394860.1:p.Glu1470Lys missense NM_001407932.1:c.4408G>A NP_001394861.1:p.Glu1470Lys missense NM_001407933.1:c.4408G>A NP_001394862.1:p.Glu1470Lys missense NM_001407934.1:c.4405G>A NP_001394863.1:p.Glu1469Lys missense NM_001407935.1:c.4405G>A NP_001394864.1:p.Glu1469Lys missense NM_001407936.1:c.4405G>A NP_001394865.1:p.Glu1469Lys missense NM_001407937.1:c.4552G>A NP_001394866.1:p.Glu1518Lys missense NM_001407938.1:c.4552G>A NP_001394867.1:p.Glu1518Lys missense NM_001407939.1:c.4549G>A NP_001394868.1:p.Glu1517Lys missense NM_001407940.1:c.4549G>A NP_001394869.1:p.Glu1517Lys missense NM_001407941.1:c.4546G>A NP_001394870.1:p.Glu1516Lys missense NM_001407942.1:c.4534G>A NP_001394871.1:p.Glu1512Lys missense NM_001407943.1:c.4531G>A NP_001394872.1:p.Glu1511Lys missense NM_001407944.1:c.4531G>A NP_001394873.1:p.Glu1511Lys missense NM_001407945.1:c.4531G>A NP_001394874.1:p.Glu1511Lys missense NM_001407946.1:c.4342G>A NP_001394875.1:p.Glu1448Lys missense NM_001407947.1:c.4342G>A NP_001394876.1:p.Glu1448Lys missense NM_001407948.1:c.4342G>A NP_001394877.1:p.Glu1448Lys missense NM_001407949.1:c.4342G>A NP_001394878.1:p.Glu1448Lys missense NM_001407950.1:c.4339G>A NP_001394879.1:p.Glu1447Lys missense NM_001407951.1:c.4339G>A NP_001394880.1:p.Glu1447Lys missense NM_001407952.1:c.4339G>A NP_001394881.1:p.Glu1447Lys missense NM_001407953.1:c.4339G>A NP_001394882.1:p.Glu1447Lys missense NM_001407954.1:c.4339G>A NP_001394883.1:p.Glu1447Lys missense NM_001407955.1:c.4339G>A NP_001394884.1:p.Glu1447Lys missense NM_001407956.1:c.4336G>A NP_001394885.1:p.Glu1446Lys missense NM_001407957.1:c.4336G>A NP_001394886.1:p.Glu1446Lys missense NM_001407958.1:c.4336G>A NP_001394887.1:p.Glu1446Lys missense NM_001407959.1:c.4294G>A NP_001394888.1:p.Glu1432Lys missense NM_001407960.1:c.4291G>A NP_001394889.1:p.Glu1431Lys missense NM_001407962.1:c.4291G>A NP_001394891.1:p.Glu1431Lys missense NM_001407963.1:c.4288G>A NP_001394892.1:p.Glu1430Lys missense NM_001407965.1:c.4168G>A NP_001394894.1:p.Glu1390Lys missense NM_001407966.1:c.3787G>A NP_001394895.1:p.Glu1263Lys missense NM_001407967.1:c.3784G>A NP_001394896.1:p.Glu1262Lys missense NM_001407968.1:c.2071G>A NP_001394897.1:p.Glu691Lys missense NM_001407969.1:c.2068G>A NP_001394898.1:p.Glu690Lys missense NM_001407970.1:c.1432G>A NP_001394899.1:p.Glu478Lys missense NM_001407971.1:c.1432G>A NP_001394900.1:p.Glu478Lys missense NM_001407972.1:c.1429G>A NP_001394901.1:p.Glu477Lys missense NM_001407973.1:c.1366G>A NP_001394902.1:p.Glu456Lys missense NM_001407974.1:c.1366G>A NP_001394903.1:p.Glu456Lys missense NM_001407975.1:c.1366G>A NP_001394904.1:p.Glu456Lys missense NM_001407976.1:c.1366G>A NP_001394905.1:p.Glu456Lys missense NM_001407977.1:c.1366G>A NP_001394906.1:p.Glu456Lys missense NM_001407978.1:c.1366G>A NP_001394907.1:p.Glu456Lys missense NM_001407979.1:c.1363G>A NP_001394908.1:p.Glu455Lys missense NM_001407980.1:c.1363G>A NP_001394909.1:p.Glu455Lys missense NM_001407981.1:c.1363G>A NP_001394910.1:p.Glu455Lys missense NM_001407982.1:c.1363G>A NP_001394911.1:p.Glu455Lys missense NM_001407983.1:c.1363G>A NP_001394912.1:p.Glu455Lys missense NM_001407984.1:c.1363G>A NP_001394913.1:p.Glu455Lys missense NM_001407985.1:c.1363G>A NP_001394914.1:p.Glu455Lys missense NM_001407986.1:c.1363G>A NP_001394915.1:p.Glu455Lys missense NM_001407990.1:c.1363G>A NP_001394919.1:p.Glu455Lys missense NM_001407991.1:c.1363G>A NP_001394920.1:p.Glu455Lys missense NM_001407992.1:c.1363G>A NP_001394921.1:p.Glu455Lys missense NM_001407993.1:c.1363G>A NP_001394922.1:p.Glu455Lys missense NM_001408392.1:c.1360G>A NP_001395321.1:p.Glu454Lys missense NM_001408396.1:c.1360G>A NP_001395325.1:p.Glu454Lys missense NM_001408397.1:c.1360G>A NP_001395326.1:p.Glu454Lys missense NM_001408398.1:c.1360G>A NP_001395327.1:p.Glu454Lys missense NM_001408399.1:c.1360G>A NP_001395328.1:p.Glu454Lys missense NM_001408400.1:c.1360G>A NP_001395329.1:p.Glu454Lys missense NM_001408401.1:c.1360G>A NP_001395330.1:p.Glu454Lys missense NM_001408402.1:c.1360G>A NP_001395331.1:p.Glu454Lys missense NM_001408403.1:c.1360G>A NP_001395332.1:p.Glu454Lys missense NM_001408404.1:c.1360G>A NP_001395333.1:p.Glu454Lys missense NM_001408406.1:c.1357G>A NP_001395335.1:p.Glu453Lys missense NM_001408407.1:c.1357G>A NP_001395336.1:p.Glu453Lys missense NM_001408408.1:c.1357G>A NP_001395337.1:p.Glu453Lys missense NM_001408409.1:c.1354G>A NP_001395338.1:p.Glu452Lys missense NM_001408410.1:c.1291G>A NP_001395339.1:p.Glu431Lys missense NM_001408411.1:c.1288G>A NP_001395340.1:p.Glu430Lys missense NM_001408412.1:c.1285G>A NP_001395341.1:p.Glu429Lys missense NM_001408413.1:c.1285G>A NP_001395342.1:p.Glu429Lys missense NM_001408414.1:c.1285G>A NP_001395343.1:p.Glu429Lys missense NM_001408415.1:c.1285G>A NP_001395344.1:p.Glu429Lys missense NM_001408416.1:c.1285G>A NP_001395345.1:p.Glu429Lys missense NM_001408418.1:c.1249G>A NP_001395347.1:p.Glu417Lys missense NM_001408419.1:c.1249G>A NP_001395348.1:p.Glu417Lys missense NM_001408420.1:c.1249G>A NP_001395349.1:p.Glu417Lys missense NM_001408421.1:c.1246G>A NP_001395350.1:p.Glu416Lys missense NM_001408422.1:c.1246G>A NP_001395351.1:p.Glu416Lys missense NM_001408423.1:c.1246G>A NP_001395352.1:p.Glu416Lys missense NM_001408424.1:c.1246G>A NP_001395353.1:p.Glu416Lys missense NM_001408425.1:c.1243G>A NP_001395354.1:p.Glu415Lys missense NM_001408426.1:c.1243G>A NP_001395355.1:p.Glu415Lys missense NM_001408427.1:c.1243G>A NP_001395356.1:p.Glu415Lys missense NM_001408428.1:c.1243G>A NP_001395357.1:p.Glu415Lys missense NM_001408429.1:c.1243G>A NP_001395358.1:p.Glu415Lys missense NM_001408430.1:c.1243G>A NP_001395359.1:p.Glu415Lys missense NM_001408431.1:c.1243G>A NP_001395360.1:p.Glu415Lys missense NM_001408432.1:c.1240G>A NP_001395361.1:p.Glu414Lys missense NM_001408433.1:c.1240G>A NP_001395362.1:p.Glu414Lys missense NM_001408434.1:c.1240G>A NP_001395363.1:p.Glu414Lys missense NM_001408435.1:c.1240G>A NP_001395364.1:p.Glu414Lys missense NM_001408436.1:c.1240G>A NP_001395365.1:p.Glu414Lys missense NM_001408437.1:c.1240G>A NP_001395366.1:p.Glu414Lys missense NM_001408438.1:c.1240G>A NP_001395367.1:p.Glu414Lys missense NM_001408439.1:c.1240G>A NP_001395368.1:p.Glu414Lys missense NM_001408440.1:c.1240G>A NP_001395369.1:p.Glu414Lys missense NM_001408441.1:c.1240G>A NP_001395370.1:p.Glu414Lys missense NM_001408442.1:c.1240G>A NP_001395371.1:p.Glu414Lys missense NM_001408443.1:c.1240G>A NP_001395372.1:p.Glu414Lys missense NM_001408444.1:c.1240G>A NP_001395373.1:p.Glu414Lys missense NM_001408445.1:c.1237G>A NP_001395374.1:p.Glu413Lys missense NM_001408446.1:c.1237G>A NP_001395375.1:p.Glu413Lys missense NM_001408447.1:c.1237G>A NP_001395376.1:p.Glu413Lys missense NM_001408448.1:c.1237G>A NP_001395377.1:p.Glu413Lys missense NM_001408450.1:c.1237G>A NP_001395379.1:p.Glu413Lys missense NM_001408451.1:c.1231G>A NP_001395380.1:p.Glu411Lys missense NM_001408452.1:c.1225G>A NP_001395381.1:p.Glu409Lys missense NM_001408453.1:c.1225G>A NP_001395382.1:p.Glu409Lys missense NM_001408454.1:c.1225G>A NP_001395383.1:p.Glu409Lys missense NM_001408455.1:c.1225G>A NP_001395384.1:p.Glu409Lys missense NM_001408456.1:c.1225G>A NP_001395385.1:p.Glu409Lys missense NM_001408457.1:c.1225G>A NP_001395386.1:p.Glu409Lys missense NM_001408458.1:c.1222G>A NP_001395387.1:p.Glu408Lys missense NM_001408459.1:c.1222G>A NP_001395388.1:p.Glu408Lys missense NM_001408460.1:c.1222G>A NP_001395389.1:p.Glu408Lys missense NM_001408461.1:c.1222G>A NP_001395390.1:p.Glu408Lys missense NM_001408462.1:c.1222G>A NP_001395391.1:p.Glu408Lys missense NM_001408463.1:c.1222G>A NP_001395392.1:p.Glu408Lys missense NM_001408464.1:c.1222G>A NP_001395393.1:p.Glu408Lys missense NM_001408465.1:c.1222G>A NP_001395394.1:p.Glu408Lys missense NM_001408466.1:c.1222G>A NP_001395395.1:p.Glu408Lys missense NM_001408467.1:c.1222G>A NP_001395396.1:p.Glu408Lys missense NM_001408468.1:c.1219G>A NP_001395397.1:p.Glu407Lys missense NM_001408469.1:c.1219G>A NP_001395398.1:p.Glu407Lys missense NM_001408470.1:c.1219G>A NP_001395399.1:p.Glu407Lys missense NM_001408472.1:c.1363G>A NP_001395401.1:p.Glu455Lys missense NM_001408473.1:c.1360G>A NP_001395402.1:p.Glu454Lys missense NM_001408474.1:c.1165G>A NP_001395403.1:p.Glu389Lys missense NM_001408475.1:c.1162G>A NP_001395404.1:p.Glu388Lys missense NM_001408476.1:c.1162G>A NP_001395405.1:p.Glu388Lys missense NM_001408478.1:c.1156G>A NP_001395407.1:p.Glu386Lys missense NM_001408479.1:c.1156G>A NP_001395408.1:p.Glu386Lys missense NM_001408480.1:c.1156G>A NP_001395409.1:p.Glu386Lys missense NM_001408481.1:c.1153G>A NP_001395410.1:p.Glu385Lys missense NM_001408482.1:c.1153G>A NP_001395411.1:p.Glu385Lys missense NM_001408483.1:c.1153G>A NP_001395412.1:p.Glu385Lys missense NM_001408484.1:c.1153G>A NP_001395413.1:p.Glu385Lys missense NM_001408485.1:c.1153G>A NP_001395414.1:p.Glu385Lys missense NM_001408489.1:c.1153G>A NP_001395418.1:p.Glu385Lys missense NM_001408490.1:c.1153G>A NP_001395419.1:p.Glu385Lys missense NM_001408491.1:c.1153G>A NP_001395420.1:p.Glu385Lys missense NM_001408492.1:c.1150G>A NP_001395421.1:p.Glu384Lys missense NM_001408493.1:c.1150G>A NP_001395422.1:p.Glu384Lys missense NM_001408494.1:c.1126G>A NP_001395423.1:p.Glu376Lys missense NM_001408495.1:c.1120G>A NP_001395424.1:p.Glu374Lys missense NM_001408496.1:c.1102G>A NP_001395425.1:p.Glu368Lys missense NM_001408497.1:c.1102G>A NP_001395426.1:p.Glu368Lys missense NM_001408498.1:c.1102G>A NP_001395427.1:p.Glu368Lys missense NM_001408499.1:c.1102G>A NP_001395428.1:p.Glu368Lys missense NM_001408500.1:c.1102G>A NP_001395429.1:p.Glu368Lys missense NM_001408501.1:c.1102G>A NP_001395430.1:p.Glu368Lys missense NM_001408502.1:c.1099G>A NP_001395431.1:p.Glu367Lys missense NM_001408503.1:c.1099G>A NP_001395432.1:p.Glu367Lys missense NM_001408504.1:c.1099G>A NP_001395433.1:p.Glu367Lys missense NM_001408505.1:c.1096G>A NP_001395434.1:p.Glu366Lys missense NM_001408506.1:c.1039G>A NP_001395435.1:p.Glu347Lys missense NM_001408507.1:c.1036G>A NP_001395436.1:p.Glu346Lys missense NM_001408508.1:c.1027G>A NP_001395437.1:p.Glu343Lys missense NM_001408509.1:c.1024G>A NP_001395438.1:p.Glu342Lys missense NM_001408510.1:c.985G>A NP_001395439.1:p.Glu329Lys missense NM_001408511.1:c.982G>A NP_001395440.1:p.Glu328Lys missense NM_001408512.1:c.862G>A NP_001395441.1:p.Glu288Lys missense NM_007297.4:c.4534G>A NP_009228.2:p.Glu1512Lys missense NM_007298.4:c.1363G>A NP_009229.2:p.Glu455Lys missense NM_007299.4:c.1363G>A NP_009230.2:p.Glu455Lys missense NM_007300.4:c.4738G>A NP_009231.2:p.Glu1580Lys missense NM_007304.2:c.1363G>A NP_009235.2:p.Glu455Lys missense NR_027676.2:n.4852G>A non-coding transcript variant NC_000017.11:g.43074331C>T NC_000017.10:g.41226348C>T NG_005905.2:g.143653G>A LRG_292:g.143653G>A LRG_292t1:c.4675G>A LRG_292p1:p.Glu1559Lys U14680.1:n.4794G>A - Protein change
- E1559K, E1580K, E1512K, E455K, E1431K, E1515K, E1517K, E1532K, E1539K, E1540K, E386K, E388K, E407K, E409K, E691K, E1262K, E1432K, E1446K, E1447K, E1469K, E1489K, E1490K, E1492K, E1510K, E1518K, E1533K, E288K, E347K, E366K, E368K, E384K, E385K, E415K, E430K, E452K, E478K, E690K, E1263K, E1487K, E1488K, E1516K, E1531K, E1555K, E1556K, E1557K, E1558K, E329K, E342K, E343K, E374K, E376K, E389K, E411K, E414K, E417K, E454K, E1390K, E1430K, E1448K, E1470K, E1471K, E1511K, E1554K, E1579K, E1581K, E328K, E346K, E367K, E408K, E413K, E416K, E429K, E431K, E453K, E456K, E477K
- Other names
- 4794G>A
- Canonical SPDI
- NC_000017.11:43074330:C:T
-
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.
The Genome Aggregation Database (gnomAD) 0.00001
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. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12938 | 14728 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Pathogenic (6) |
reviewed by expert panel
|
Jun 18, 2019 | RCV000031185.19 | |
Pathogenic (1) |
criteria provided, single submitter
|
Feb 9, 2022 | RCV000131823.13 | |
Pathogenic/Likely pathogenic (5) |
criteria provided, multiple submitters, no conflicts
|
Feb 11, 2019 | RCV000482921.18 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
Jan 31, 2024 | RCV000496604.14 |
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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Pathogenic
(Jun 18, 2019)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV001161548.2
First in ClinVar: Feb 16, 2020 Last updated: Jan 07, 2023 |
Comment:
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 based on … (more)
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 based on posterior probability = 0.99607 (less)
|
|
Likely pathogenic
(Feb 28, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000564744.3
First in ClinVar: Apr 27, 2017 Last updated: Apr 27, 2017 |
Comment:
This variant is denoted BRCA1 c.4675G>A at the cDNA level. Using alternate nomenclature, this variant has been previously published as BRCA1 4794G>A. Located in last … (more)
This variant is denoted BRCA1 c.4675G>A at the cDNA level. Using alternate nomenclature, this variant has been previously published as BRCA1 4794G>A. Located in last nucleotide of exon 14, multiple splicing models predict that this variant destroys the natural splice donor site for intron 14 and causes abnormal splicing. BRCA1 c.4675G>A has been reported in at least three individuals with ovarian cancer (Wappenschmidt 2012, Janavicius 2014, Tihomirova 2014). In addition, RNA analysis suggested that this variant results in partial loss of the natural splice donor site and activation of a cryptic splice donor site (Wappenschmidt 2012). Although the nucleotide substitution results in the change of a Glutamic Acid to a Lysine at codon 1559, and is called Glu1559Lys in the literature, we are using only the nucleotide nomenclature to refer to the mutation since the defect is mainly due to abnormal splicing rather than a resulting missense pathogenic variant. BRCA1 c.4675G>A was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The nucleotide which is altered, a guanine (G) at base 4675, is conserved across species. Based on the current evidence, we consider this mutation to be a likely pathogenic variant. (less)
|
|
Pathogenic
(Jun 13, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics and Genomics, Karolinska University Hospital
Accession: SCV001449936.1
First in ClinVar: Dec 10, 2020 Last updated: Dec 10, 2020 |
Number of individuals with the variant: 2
|
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Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000326020.4
First in ClinVar: Sep 27, 2014 Last updated: Dec 11, 2022 |
|
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Pathogenic
(Mar 24, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004216986.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
|
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Pathogenic
(May 07, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001623417.1
First in ClinVar: May 23, 2021 Last updated: May 23, 2021 |
Comment:
Variant summary: BRCA1 c.4675G>A (p.Glu1559Lys) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign … (more)
Variant summary: BRCA1 c.4675G>A (p.Glu1559Lys) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. This sequence change occurs at the last nucleotide of exon 14. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 5 splicing donor site. Consistent with these predications, a functional study report that this alteration activated a cryptic splice site resulting in the loss of the last 11 nucleotides of the exon 14 (Wappenschmidt_2012). The variant was absent in 251130 control chromosomes (gnomAD). c.4675G>A has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer Syndrome (Rebbeck_2018). These data indicate that the variant is likely to be associated with disease. Six ClinVar submitters including an expert panel (ENIGMA) cite the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Jul 03, 2023)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
unknown
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Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV004027744.1
First in ClinVar: Aug 26, 2023 Last updated: Aug 26, 2023 |
Comment:
Criteria applied: PS3,PS4,PM2_SUP, PP3
Clinical Features:
Family history of cancer (present)
Sex: female
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Pathogenic
(Feb 11, 2019)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001133595.4
First in ClinVar: Jan 05, 2020 Last updated: Jan 06, 2024 |
Comment:
This variant has been reported as pathogenic in multiple individuals and families with breast and/or ovarian cancer in the published literature (PMID: 30441849 (2018), 29797126 … (more)
This variant has been reported as pathogenic in multiple individuals and families with breast and/or ovarian cancer in the published literature (PMID: 30441849 (2018), 29797126 (2018), 29446198 (2018), 25066507 (2014), 24797986 (2014), 23239986 (2012)). The frequency of this variant in the general population, 0.000065 (1/15422 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. This variant occurs at the last nucleotide of exon 14 and functional analysis indicates that it interferes with normal RNA splicing in vitro (PMID: 23239986 (2012)). Based on the available information, this variant is classified as pathogenic. (less)
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Pathogenic
(Jan 31, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV001584390.4
First in ClinVar: May 10, 2021 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1559 of the BRCA1 protein … (more)
This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1559 of the BRCA1 protein (p.Glu1559Lys). RNA analysis indicates that this missense change induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (rs80356988, gnomAD 0.007%). This missense change has been observed in individual(s) with breast cancer and/or ovarian cancer (PMID: 17761984, 23239986, 24333842, 24797986, 25066507). It has also been observed to segregate with disease in related individuals. This variant is also known as c.4794G>A. ClinVar contains an entry for this variant (Variation ID: 37604). Based on a multifactorial likelihood algorithm using genetic, in silico, and/or statistical data, this variant has been determined to have a high probability of being pathogenic (PMID: 31131967). Experimental studies have shown that this missense change does not substantially affect BRCA1 function (PMID: 30765603). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this missense change results in deletion of the last 11 nucleotides of exon 14 (also known as exon 15) and introduces a premature termination codon (PMID: 23239986, 31143303; Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Feb 09, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000186878.8
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
The c.4675G>A pathogenic mutation (also known as p.E1559K), located in coding exon 13 of the BRCA1 gene, results from a G to A substitution at … (more)
The c.4675G>A pathogenic mutation (also known as p.E1559K), located in coding exon 13 of the BRCA1 gene, results from a G to A substitution at nucleotide position 4675. The glutamic acid at codon 1559 is replaced by lysine, an amino acid with similar properties. However, this change occurs in the last base pair of coding exon 13, which makes it likely to have some effect on normal mRNA splicing. In vitro transcript analyses showed that this alteration activated a cryptic splice site leading to the loss of the last 11 nucleotides of the exon and causing a premature stop codon (Ambry internal data; Wappenschmidt B et al. PLoS One. 2012;7(12):e50800; Wangensteen T et al. Hered Cancer Clin Pract, 2019 May;17:14). This alteration has been identified in individuals diagnosed with breast and/or ovarian cancer (Callahan MJ et al. J Clin Oncol. 2007 Sep 1;25(25):3985-90; Wappenschmidt B et al. PLoS One. 2012;7(12):e50800; Tihomirova L et al. Adv Med Sci. 2014 Mar;59(1):114-9; Conner JR et al. Gynecol Oncol. 2014 Feb;132(2):280-6; De Talhouet S et al. Sci Rep, 2020 04;10:7073). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site and will result in the creation or strengthening of a novel splice donor site. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001740740.3 First in ClinVar: Jul 07, 2021 Last updated: Sep 08, 2021 |
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Pathogenic
(Nov 25, 2004)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
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Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000145148.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 1
Observation 2:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European, Dutch
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Pathogenic
(May 01, 2012)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
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Sharing Clinical Reports Project (SCRP)
Accession: SCV000053785.5
First in ClinVar: Apr 04, 2013 Last updated: Sep 27, 2014 |
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Pathogenic
(Jan 31, 2014)
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no assertion criteria provided
Method: research
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Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
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Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587416.1 First in ClinVar: Aug 07, 2017 Last updated: Aug 07, 2017 |
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Likely pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001959345.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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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
HelpTitle | Author | Journal | Year | Link |
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Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance. | Lyra PCM Jr | Genetics in medicine : official journal of the American College of Medical Genetics | 2021 | PMID: 33087888 |
Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes. | De Talhouet S | Scientific reports | 2020 | PMID: 32341426 |
Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients. | Gao X | Human mutation | 2020 | PMID: 31825140 |
Diagnostic mRNA splicing assay for variants in BRCA1 and BRCA2 identified two novel pathogenic splicing aberrations. | Wangensteen T | Hereditary cancer in clinical practice | 2019 | PMID: 31143303 |
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. | Parsons MT | Human mutation | 2019 | PMID: 31131967 |
Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation. | Fernandes VC | The Journal of biological chemistry | 2019 | PMID: 30765603 |
Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer. | Li JY | International journal of cancer | 2019 | PMID: 29752822 |
Spectrum and Prevalence of Pathogenic Variants in Ovarian Cancer Susceptibility Genes in a Group of 333 Patients. | Koczkowska M | Cancers | 2018 | PMID: 30441849 |
Loss of Heterozygosity in BRCA1 and BRCA2 Genes in Patients with Ovarian Cancer and Probability of Its Use for Clinical Classification of Variations. | Kechin AA | Bulletin of experimental biology and medicine | 2018 | PMID: 29797126 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
Genetic alterations in sporadic triple negative breast cancer. | Pop LA | Breast (Edinburgh, Scotland) | 2018 | PMID: 29202330 |
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance. | Woods NT | NPJ genomic medicine | 2016 | PMID: 28781887 |
A reliable method for the detection of BRCA1 and BRCA2 mutations in fixed tumour tissue utilising multiplex PCR-based targeted next generation sequencing. | Ellison G | BMC clinical pathology | 2015 | PMID: 25859162 |
Comprehensive BRCA1 and BRCA2 mutational profile in Lithuania. | Janavičius R | Cancer genetics | 2014 | PMID: 25066507 |
BRCA1 gene-related hereditary susceptibility to breast and ovarian cancer in Latvia. | Tihomirova L | Advances in medical sciences | 2014 | PMID: 24797986 |
Outcome of unexpected adnexal neoplasia discovered during risk reduction salpingo-oophorectomy in women with germ-line BRCA1 or BRCA2 mutations. | Conner JR | Gynecologic oncology | 2014 | PMID: 24333842 |
Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction. | Wappenschmidt B | PloS one | 2012 | PMID: 23239986 |
Primary fallopian tube malignancies in BRCA-positive women undergoing surgery for ovarian cancer risk reduction. | Callahan MJ | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2007 | PMID: 17761984 |
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. | Buratti E | Nucleic acids research | 2007 | PMID: 17576681 |
Statistical features of human exons and their flanking regions. | Zhang MQ | Human molecular genetics | 1998 | PMID: 9536098 |
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Text-mined citations for rs80356988 ...
HelpRecord last updated Jun 30, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.