ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.4903G>A (p.Glu1635Lys)
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.
Uncertain significance(5); Benign(1); Likely benign(1)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.4903G>A (p.Glu1635Lys)
Variation ID: 41829 Accession: VCV000041829.23
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43071011 (GRCh38) [ NCBI UCSC ] 17: 41223028 (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 12, 2013 Nov 24, 2024 Apr 12, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.4903G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu1635Lys missense NM_001407571.1:c.4690G>A NP_001394500.1:p.Glu1564Lys missense NM_001407581.1:c.4969G>A NP_001394510.1:p.Glu1657Lys missense NM_001407582.1:c.4969G>A NP_001394511.1:p.Glu1657Lys missense NM_001407583.1:c.4966G>A NP_001394512.1:p.Glu1656Lys missense NM_001407585.1:c.4966G>A NP_001394514.1:p.Glu1656Lys missense NM_001407587.1:c.4966G>A NP_001394516.1:p.Glu1656Lys missense NM_001407590.1:c.4963G>A NP_001394519.1:p.Glu1655Lys missense NM_001407591.1:c.4963G>A NP_001394520.1:p.Glu1655Lys missense NM_001407593.1:c.4903G>A NP_001394522.1:p.Glu1635Lys missense NM_001407594.1:c.4903G>A NP_001394523.1:p.Glu1635Lys missense NM_001407596.1:c.4903G>A NP_001394525.1:p.Glu1635Lys missense NM_001407597.1:c.4903G>A NP_001394526.1:p.Glu1635Lys missense NM_001407598.1:c.4903G>A NP_001394527.1:p.Glu1635Lys missense NM_001407602.1:c.4903G>A NP_001394531.1:p.Glu1635Lys missense NM_001407603.1:c.4903G>A NP_001394532.1:p.Glu1635Lys missense NM_001407605.1:c.4903G>A NP_001394534.1:p.Glu1635Lys missense NM_001407610.1:c.4900G>A NP_001394539.1:p.Glu1634Lys missense NM_001407611.1:c.4900G>A NP_001394540.1:p.Glu1634Lys missense NM_001407612.1:c.4900G>A NP_001394541.1:p.Glu1634Lys missense NM_001407613.1:c.4900G>A NP_001394542.1:p.Glu1634Lys missense NM_001407614.1:c.4900G>A NP_001394543.1:p.Glu1634Lys missense NM_001407615.1:c.4900G>A NP_001394544.1:p.Glu1634Lys missense NM_001407616.1:c.4900G>A NP_001394545.1:p.Glu1634Lys missense NM_001407617.1:c.4900G>A NP_001394546.1:p.Glu1634Lys missense NM_001407618.1:c.4900G>A NP_001394547.1:p.Glu1634Lys missense NM_001407619.1:c.4900G>A NP_001394548.1:p.Glu1634Lys missense NM_001407620.1:c.4900G>A NP_001394549.1:p.Glu1634Lys missense NM_001407621.1:c.4900G>A NP_001394550.1:p.Glu1634Lys missense NM_001407622.1:c.4900G>A NP_001394551.1:p.Glu1634Lys missense NM_001407623.1:c.4900G>A NP_001394552.1:p.Glu1634Lys missense NM_001407624.1:c.4900G>A NP_001394553.1:p.Glu1634Lys missense NM_001407625.1:c.4900G>A NP_001394554.1:p.Glu1634Lys missense NM_001407626.1:c.4900G>A NP_001394555.1:p.Glu1634Lys missense NM_001407627.1:c.4897G>A NP_001394556.1:p.Glu1633Lys missense NM_001407628.1:c.4897G>A NP_001394557.1:p.Glu1633Lys missense NM_001407629.1:c.4897G>A NP_001394558.1:p.Glu1633Lys missense NM_001407630.1:c.4897G>A NP_001394559.1:p.Glu1633Lys missense NM_001407631.1:c.4897G>A NP_001394560.1:p.Glu1633Lys missense NM_001407632.1:c.4897G>A NP_001394561.1:p.Glu1633Lys missense NM_001407633.1:c.4897G>A NP_001394562.1:p.Glu1633Lys missense NM_001407634.1:c.4897G>A NP_001394563.1:p.Glu1633Lys missense NM_001407635.1:c.4897G>A NP_001394564.1:p.Glu1633Lys missense NM_001407636.1:c.4897G>A NP_001394565.1:p.Glu1633Lys missense NM_001407637.1:c.4897G>A NP_001394566.1:p.Glu1633Lys missense NM_001407638.1:c.4897G>A NP_001394567.1:p.Glu1633Lys missense NM_001407639.1:c.4897G>A NP_001394568.1:p.Glu1633Lys missense NM_001407640.1:c.4897G>A NP_001394569.1:p.Glu1633Lys missense NM_001407641.1:c.4897G>A NP_001394570.1:p.Glu1633Lys missense NM_001407642.1:c.4897G>A NP_001394571.1:p.Glu1633Lys missense NM_001407644.1:c.4894G>A NP_001394573.1:p.Glu1632Lys missense NM_001407645.1:c.4894G>A NP_001394574.1:p.Glu1632Lys missense NM_001407646.1:c.4891G>A NP_001394575.1:p.Glu1631Lys missense NM_001407647.1:c.4888G>A NP_001394576.1:p.Glu1630Lys missense NM_001407648.1:c.4846G>A NP_001394577.1:p.Glu1616Lys missense NM_001407649.1:c.4843G>A NP_001394578.1:p.Glu1615Lys missense NM_001407652.1:c.4903G>A NP_001394581.1:p.Glu1635Lys missense NM_001407653.1:c.4825G>A NP_001394582.1:p.Glu1609Lys missense NM_001407654.1:c.4825G>A NP_001394583.1:p.Glu1609Lys missense NM_001407655.1:c.4825G>A NP_001394584.1:p.Glu1609Lys missense NM_001407656.1:c.4822G>A NP_001394585.1:p.Glu1608Lys missense NM_001407657.1:c.4822G>A NP_001394586.1:p.Glu1608Lys missense NM_001407658.1:c.4822G>A NP_001394587.1:p.Glu1608Lys missense NM_001407659.1:c.4819G>A NP_001394588.1:p.Glu1607Lys missense NM_001407660.1:c.4819G>A NP_001394589.1:p.Glu1607Lys missense NM_001407661.1:c.4819G>A NP_001394590.1:p.Glu1607Lys missense NM_001407662.1:c.4819G>A NP_001394591.1:p.Glu1607Lys missense NM_001407663.1:c.4819G>A NP_001394592.1:p.Glu1607Lys missense NM_001407664.1:c.4780G>A NP_001394593.1:p.Glu1594Lys missense NM_001407665.1:c.4780G>A NP_001394594.1:p.Glu1594Lys missense NM_001407666.1:c.4780G>A NP_001394595.1:p.Glu1594Lys missense NM_001407667.1:c.4780G>A NP_001394596.1:p.Glu1594Lys missense NM_001407668.1:c.4780G>A NP_001394597.1:p.Glu1594Lys missense NM_001407669.1:c.4780G>A NP_001394598.1:p.Glu1594Lys missense NM_001407670.1:c.4777G>A NP_001394599.1:p.Glu1593Lys missense NM_001407671.1:c.4777G>A NP_001394600.1:p.Glu1593Lys missense NM_001407672.1:c.4777G>A NP_001394601.1:p.Glu1593Lys missense NM_001407673.1:c.4777G>A NP_001394602.1:p.Glu1593Lys missense NM_001407674.1:c.4777G>A NP_001394603.1:p.Glu1593Lys missense NM_001407675.1:c.4777G>A NP_001394604.1:p.Glu1593Lys missense NM_001407676.1:c.4777G>A NP_001394605.1:p.Glu1593Lys missense NM_001407677.1:c.4777G>A NP_001394606.1:p.Glu1593Lys missense NM_001407678.1:c.4777G>A NP_001394607.1:p.Glu1593Lys missense NM_001407679.1:c.4777G>A NP_001394608.1:p.Glu1593Lys missense NM_001407680.1:c.4777G>A NP_001394609.1:p.Glu1593Lys missense NM_001407681.1:c.4774G>A NP_001394610.1:p.Glu1592Lys missense NM_001407682.1:c.4774G>A NP_001394611.1:p.Glu1592Lys missense NM_001407683.1:c.4774G>A NP_001394612.1:p.Glu1592Lys missense NM_001407684.1:c.4903G>A NP_001394613.1:p.Glu1635Lys missense NM_001407685.1:c.4774G>A NP_001394614.1:p.Glu1592Lys missense NM_001407686.1:c.4774G>A NP_001394615.1:p.Glu1592Lys missense NM_001407687.1:c.4774G>A NP_001394616.1:p.Glu1592Lys missense NM_001407688.1:c.4774G>A NP_001394617.1:p.Glu1592Lys missense NM_001407689.1:c.4774G>A NP_001394618.1:p.Glu1592Lys missense NM_001407690.1:c.4771G>A NP_001394619.1:p.Glu1591Lys missense NM_001407691.1:c.4771G>A NP_001394620.1:p.Glu1591Lys missense NM_001407692.1:c.4762G>A NP_001394621.1:p.Glu1588Lys missense NM_001407694.1:c.4762G>A NP_001394623.1:p.Glu1588Lys missense NM_001407695.1:c.4762G>A NP_001394624.1:p.Glu1588Lys missense NM_001407696.1:c.4762G>A NP_001394625.1:p.Glu1588Lys missense NM_001407697.1:c.4762G>A NP_001394626.1:p.Glu1588Lys missense NM_001407698.1:c.4762G>A NP_001394627.1:p.Glu1588Lys missense NM_001407724.1:c.4762G>A NP_001394653.1:p.Glu1588Lys missense NM_001407725.1:c.4762G>A NP_001394654.1:p.Glu1588Lys missense NM_001407726.1:c.4762G>A NP_001394655.1:p.Glu1588Lys missense NM_001407727.1:c.4762G>A NP_001394656.1:p.Glu1588Lys missense NM_001407728.1:c.4762G>A NP_001394657.1:p.Glu1588Lys missense NM_001407729.1:c.4762G>A NP_001394658.1:p.Glu1588Lys missense NM_001407730.1:c.4762G>A NP_001394659.1:p.Glu1588Lys missense NM_001407731.1:c.4762G>A NP_001394660.1:p.Glu1588Lys missense NM_001407732.1:c.4759G>A NP_001394661.1:p.Glu1587Lys missense NM_001407733.1:c.4759G>A NP_001394662.1:p.Glu1587Lys missense NM_001407734.1:c.4759G>A NP_001394663.1:p.Glu1587Lys missense NM_001407735.1:c.4759G>A NP_001394664.1:p.Glu1587Lys missense NM_001407736.1:c.4759G>A NP_001394665.1:p.Glu1587Lys missense NM_001407737.1:c.4759G>A NP_001394666.1:p.Glu1587Lys missense NM_001407738.1:c.4759G>A NP_001394667.1:p.Glu1587Lys missense NM_001407739.1:c.4759G>A NP_001394668.1:p.Glu1587Lys missense NM_001407740.1:c.4759G>A NP_001394669.1:p.Glu1587Lys missense NM_001407741.1:c.4759G>A NP_001394670.1:p.Glu1587Lys missense NM_001407742.1:c.4759G>A NP_001394671.1:p.Glu1587Lys missense NM_001407743.1:c.4759G>A NP_001394672.1:p.Glu1587Lys missense NM_001407744.1:c.4759G>A NP_001394673.1:p.Glu1587Lys missense NM_001407745.1:c.4759G>A NP_001394674.1:p.Glu1587Lys missense NM_001407746.1:c.4759G>A NP_001394675.1:p.Glu1587Lys missense NM_001407747.1:c.4759G>A NP_001394676.1:p.Glu1587Lys missense NM_001407748.1:c.4759G>A NP_001394677.1:p.Glu1587Lys missense NM_001407749.1:c.4759G>A NP_001394678.1:p.Glu1587Lys missense NM_001407750.1:c.4759G>A NP_001394679.1:p.Glu1587Lys missense NM_001407751.1:c.4759G>A NP_001394680.1:p.Glu1587Lys missense NM_001407752.1:c.4759G>A NP_001394681.1:p.Glu1587Lys missense NM_001407838.1:c.4756G>A NP_001394767.1:p.Glu1586Lys missense NM_001407839.1:c.4756G>A NP_001394768.1:p.Glu1586Lys missense NM_001407841.1:c.4756G>A NP_001394770.1:p.Glu1586Lys missense NM_001407842.1:c.4756G>A NP_001394771.1:p.Glu1586Lys missense NM_001407843.1:c.4756G>A NP_001394772.1:p.Glu1586Lys missense NM_001407844.1:c.4756G>A NP_001394773.1:p.Glu1586Lys missense NM_001407845.1:c.4756G>A NP_001394774.1:p.Glu1586Lys missense NM_001407846.1:c.4756G>A NP_001394775.1:p.Glu1586Lys missense NM_001407847.1:c.4756G>A NP_001394776.1:p.Glu1586Lys missense NM_001407848.1:c.4756G>A NP_001394777.1:p.Glu1586Lys missense NM_001407849.1:c.4756G>A NP_001394778.1:p.Glu1586Lys missense NM_001407850.1:c.4756G>A NP_001394779.1:p.Glu1586Lys missense NM_001407851.1:c.4756G>A NP_001394780.1:p.Glu1586Lys missense NM_001407852.1:c.4756G>A NP_001394781.1:p.Glu1586Lys missense NM_001407853.1:c.4756G>A NP_001394782.1:p.Glu1586Lys missense NM_001407854.1:c.4903G>A NP_001394783.1:p.Glu1635Lys missense NM_001407858.1:c.4900G>A NP_001394787.1:p.Glu1634Lys missense NM_001407859.1:c.4900G>A NP_001394788.1:p.Glu1634Lys missense NM_001407860.1:c.4900G>A NP_001394789.1:p.Glu1634Lys missense NM_001407861.1:c.4897G>A NP_001394790.1:p.Glu1633Lys missense NM_001407862.1:c.4702G>A NP_001394791.1:p.Glu1568Lys missense NM_001407863.1:c.4777G>A NP_001394792.1:p.Glu1593Lys missense NM_001407874.1:c.4696G>A NP_001394803.1:p.Glu1566Lys missense NM_001407875.1:c.4696G>A NP_001394804.1:p.Glu1566Lys missense NM_001407879.1:c.4693G>A NP_001394808.1:p.Glu1565Lys missense NM_001407881.1:c.4693G>A NP_001394810.1:p.Glu1565Lys missense NM_001407882.1:c.4693G>A NP_001394811.1:p.Glu1565Lys missense NM_001407884.1:c.4693G>A NP_001394813.1:p.Glu1565Lys missense NM_001407885.1:c.4693G>A NP_001394814.1:p.Glu1565Lys missense NM_001407886.1:c.4693G>A NP_001394815.1:p.Glu1565Lys missense NM_001407887.1:c.4693G>A NP_001394816.1:p.Glu1565Lys missense NM_001407889.1:c.4693G>A NP_001394818.1:p.Glu1565Lys missense NM_001407894.1:c.4690G>A NP_001394823.1:p.Glu1564Lys missense NM_001407895.1:c.4690G>A NP_001394824.1:p.Glu1564Lys missense NM_001407896.1:c.4690G>A NP_001394825.1:p.Glu1564Lys missense NM_001407897.1:c.4690G>A NP_001394826.1:p.Glu1564Lys missense NM_001407898.1:c.4690G>A NP_001394827.1:p.Glu1564Lys missense NM_001407899.1:c.4690G>A NP_001394828.1:p.Glu1564Lys missense NM_001407900.1:c.4690G>A NP_001394829.1:p.Glu1564Lys missense NM_001407902.1:c.4690G>A NP_001394831.1:p.Glu1564Lys missense NM_001407904.1:c.4690G>A NP_001394833.1:p.Glu1564Lys missense NM_001407906.1:c.4690G>A NP_001394835.1:p.Glu1564Lys missense NM_001407907.1:c.4690G>A NP_001394836.1:p.Glu1564Lys missense NM_001407908.1:c.4690G>A NP_001394837.1:p.Glu1564Lys missense NM_001407909.1:c.4690G>A NP_001394838.1:p.Glu1564Lys missense NM_001407910.1:c.4690G>A NP_001394839.1:p.Glu1564Lys missense NM_001407915.1:c.4687G>A NP_001394844.1:p.Glu1563Lys missense NM_001407916.1:c.4687G>A NP_001394845.1:p.Glu1563Lys missense NM_001407917.1:c.4687G>A NP_001394846.1:p.Glu1563Lys missense NM_001407918.1:c.4687G>A NP_001394847.1:p.Glu1563Lys missense NM_001407919.1:c.4780G>A NP_001394848.1:p.Glu1594Lys missense NM_001407920.1:c.4639G>A NP_001394849.1:p.Glu1547Lys missense NM_001407921.1:c.4639G>A NP_001394850.1:p.Glu1547Lys missense NM_001407922.1:c.4639G>A NP_001394851.1:p.Glu1547Lys missense NM_001407923.1:c.4639G>A NP_001394852.1:p.Glu1547Lys missense NM_001407924.1:c.4639G>A NP_001394853.1:p.Glu1547Lys missense NM_001407925.1:c.4639G>A NP_001394854.1:p.Glu1547Lys missense NM_001407926.1:c.4639G>A NP_001394855.1:p.Glu1547Lys missense NM_001407927.1:c.4636G>A NP_001394856.1:p.Glu1546Lys missense NM_001407928.1:c.4636G>A NP_001394857.1:p.Glu1546Lys missense NM_001407929.1:c.4636G>A NP_001394858.1:p.Glu1546Lys missense NM_001407930.1:c.4636G>A NP_001394859.1:p.Glu1546Lys missense NM_001407931.1:c.4636G>A NP_001394860.1:p.Glu1546Lys missense NM_001407932.1:c.4636G>A NP_001394861.1:p.Glu1546Lys missense NM_001407933.1:c.4636G>A NP_001394862.1:p.Glu1546Lys missense NM_001407934.1:c.4633G>A NP_001394863.1:p.Glu1545Lys missense NM_001407935.1:c.4633G>A NP_001394864.1:p.Glu1545Lys missense NM_001407936.1:c.4633G>A NP_001394865.1:p.Glu1545Lys missense NM_001407937.1:c.4780G>A NP_001394866.1:p.Glu1594Lys missense NM_001407938.1:c.4780G>A NP_001394867.1:p.Glu1594Lys missense NM_001407939.1:c.4777G>A NP_001394868.1:p.Glu1593Lys missense NM_001407940.1:c.4777G>A NP_001394869.1:p.Glu1593Lys missense NM_001407941.1:c.4774G>A NP_001394870.1:p.Glu1592Lys missense NM_001407942.1:c.4762G>A NP_001394871.1:p.Glu1588Lys missense NM_001407943.1:c.4759G>A NP_001394872.1:p.Glu1587Lys missense NM_001407944.1:c.4759G>A NP_001394873.1:p.Glu1587Lys missense NM_001407945.1:c.4759G>A NP_001394874.1:p.Glu1587Lys missense NM_001407946.1:c.4570G>A NP_001394875.1:p.Glu1524Lys missense NM_001407947.1:c.4570G>A NP_001394876.1:p.Glu1524Lys missense NM_001407948.1:c.4570G>A NP_001394877.1:p.Glu1524Lys missense NM_001407949.1:c.4570G>A NP_001394878.1:p.Glu1524Lys missense NM_001407950.1:c.4567G>A NP_001394879.1:p.Glu1523Lys missense NM_001407951.1:c.4567G>A NP_001394880.1:p.Glu1523Lys missense NM_001407952.1:c.4567G>A NP_001394881.1:p.Glu1523Lys missense NM_001407953.1:c.4567G>A NP_001394882.1:p.Glu1523Lys missense NM_001407954.1:c.4567G>A NP_001394883.1:p.Glu1523Lys missense NM_001407955.1:c.4567G>A NP_001394884.1:p.Glu1523Lys missense NM_001407956.1:c.4564G>A NP_001394885.1:p.Glu1522Lys missense NM_001407957.1:c.4564G>A NP_001394886.1:p.Glu1522Lys missense NM_001407958.1:c.4564G>A NP_001394887.1:p.Glu1522Lys missense NM_001407959.1:c.4522G>A NP_001394888.1:p.Glu1508Lys missense NM_001407960.1:c.4519G>A NP_001394889.1:p.Glu1507Lys missense NM_001407962.1:c.4519G>A NP_001394891.1:p.Glu1507Lys missense NM_001407963.1:c.4516G>A NP_001394892.1:p.Glu1506Lys missense NM_001407964.1:c.4441G>A NP_001394893.1:p.Glu1481Lys missense NM_001407965.1:c.4396G>A NP_001394894.1:p.Glu1466Lys missense NM_001407966.1:c.4015G>A NP_001394895.1:p.Glu1339Lys missense NM_001407967.1:c.4012G>A NP_001394896.1:p.Glu1338Lys missense NM_001407968.1:c.2299G>A NP_001394897.1:p.Glu767Lys missense NM_001407969.1:c.2296G>A NP_001394898.1:p.Glu766Lys missense NM_001407970.1:c.1660G>A NP_001394899.1:p.Glu554Lys missense NM_001407971.1:c.1660G>A NP_001394900.1:p.Glu554Lys missense NM_001407972.1:c.1657G>A NP_001394901.1:p.Glu553Lys missense NM_001407973.1:c.1594G>A NP_001394902.1:p.Glu532Lys missense NM_001407974.1:c.1594G>A NP_001394903.1:p.Glu532Lys missense NM_001407975.1:c.1594G>A NP_001394904.1:p.Glu532Lys missense NM_001407976.1:c.1594G>A NP_001394905.1:p.Glu532Lys missense NM_001407977.1:c.1594G>A NP_001394906.1:p.Glu532Lys missense NM_001407978.1:c.1594G>A NP_001394907.1:p.Glu532Lys missense NM_001407979.1:c.1591G>A NP_001394908.1:p.Glu531Lys missense NM_001407980.1:c.1591G>A NP_001394909.1:p.Glu531Lys missense NM_001407981.1:c.1591G>A NP_001394910.1:p.Glu531Lys missense NM_001407982.1:c.1591G>A NP_001394911.1:p.Glu531Lys missense NM_001407983.1:c.1591G>A NP_001394912.1:p.Glu531Lys missense NM_001407984.1:c.1591G>A NP_001394913.1:p.Glu531Lys missense NM_001407985.1:c.1591G>A NP_001394914.1:p.Glu531Lys missense NM_001407986.1:c.1591G>A NP_001394915.1:p.Glu531Lys missense NM_001407990.1:c.1591G>A NP_001394919.1:p.Glu531Lys missense NM_001407991.1:c.1591G>A NP_001394920.1:p.Glu531Lys missense NM_001407992.1:c.1591G>A NP_001394921.1:p.Glu531Lys missense NM_001407993.1:c.1591G>A NP_001394922.1:p.Glu531Lys missense NM_001408392.1:c.1588G>A NP_001395321.1:p.Glu530Lys missense NM_001408396.1:c.1588G>A NP_001395325.1:p.Glu530Lys missense NM_001408397.1:c.1588G>A NP_001395326.1:p.Glu530Lys missense NM_001408398.1:c.1588G>A NP_001395327.1:p.Glu530Lys missense NM_001408399.1:c.1588G>A NP_001395328.1:p.Glu530Lys missense NM_001408400.1:c.1588G>A NP_001395329.1:p.Glu530Lys missense NM_001408401.1:c.1588G>A NP_001395330.1:p.Glu530Lys missense NM_001408402.1:c.1588G>A NP_001395331.1:p.Glu530Lys missense NM_001408403.1:c.1588G>A NP_001395332.1:p.Glu530Lys missense NM_001408404.1:c.1588G>A NP_001395333.1:p.Glu530Lys missense NM_001408406.1:c.1585G>A NP_001395335.1:p.Glu529Lys missense NM_001408407.1:c.1585G>A NP_001395336.1:p.Glu529Lys missense NM_001408408.1:c.1585G>A NP_001395337.1:p.Glu529Lys missense NM_001408409.1:c.1582G>A NP_001395338.1:p.Glu528Lys missense NM_001408410.1:c.1519G>A NP_001395339.1:p.Glu507Lys missense NM_001408411.1:c.1516G>A NP_001395340.1:p.Glu506Lys missense NM_001408412.1:c.1513G>A NP_001395341.1:p.Glu505Lys missense NM_001408413.1:c.1513G>A NP_001395342.1:p.Glu505Lys missense NM_001408414.1:c.1513G>A NP_001395343.1:p.Glu505Lys missense NM_001408415.1:c.1513G>A NP_001395344.1:p.Glu505Lys missense NM_001408416.1:c.1513G>A NP_001395345.1:p.Glu505Lys missense NM_001408418.1:c.1477G>A NP_001395347.1:p.Glu493Lys missense NM_001408419.1:c.1477G>A NP_001395348.1:p.Glu493Lys missense NM_001408420.1:c.1477G>A NP_001395349.1:p.Glu493Lys missense NM_001408421.1:c.1474G>A NP_001395350.1:p.Glu492Lys missense NM_001408422.1:c.1474G>A NP_001395351.1:p.Glu492Lys missense NM_001408423.1:c.1474G>A NP_001395352.1:p.Glu492Lys missense NM_001408424.1:c.1474G>A NP_001395353.1:p.Glu492Lys missense NM_001408425.1:c.1471G>A NP_001395354.1:p.Glu491Lys missense NM_001408426.1:c.1471G>A NP_001395355.1:p.Glu491Lys missense NM_001408427.1:c.1471G>A NP_001395356.1:p.Glu491Lys missense NM_001408428.1:c.1471G>A NP_001395357.1:p.Glu491Lys missense NM_001408429.1:c.1471G>A NP_001395358.1:p.Glu491Lys missense NM_001408430.1:c.1471G>A NP_001395359.1:p.Glu491Lys missense NM_001408431.1:c.1471G>A NP_001395360.1:p.Glu491Lys missense NM_001408432.1:c.1468G>A NP_001395361.1:p.Glu490Lys missense NM_001408433.1:c.1468G>A NP_001395362.1:p.Glu490Lys missense NM_001408434.1:c.1468G>A NP_001395363.1:p.Glu490Lys missense NM_001408435.1:c.1468G>A NP_001395364.1:p.Glu490Lys missense NM_001408436.1:c.1468G>A NP_001395365.1:p.Glu490Lys missense NM_001408437.1:c.1468G>A NP_001395366.1:p.Glu490Lys missense NM_001408438.1:c.1468G>A NP_001395367.1:p.Glu490Lys missense NM_001408439.1:c.1468G>A NP_001395368.1:p.Glu490Lys missense NM_001408440.1:c.1468G>A NP_001395369.1:p.Glu490Lys missense NM_001408441.1:c.1468G>A NP_001395370.1:p.Glu490Lys missense NM_001408442.1:c.1468G>A NP_001395371.1:p.Glu490Lys missense NM_001408443.1:c.1468G>A NP_001395372.1:p.Glu490Lys missense NM_001408444.1:c.1468G>A NP_001395373.1:p.Glu490Lys missense NM_001408445.1:c.1465G>A NP_001395374.1:p.Glu489Lys missense NM_001408446.1:c.1465G>A NP_001395375.1:p.Glu489Lys missense NM_001408447.1:c.1465G>A NP_001395376.1:p.Glu489Lys missense NM_001408448.1:c.1465G>A NP_001395377.1:p.Glu489Lys missense NM_001408450.1:c.1465G>A NP_001395379.1:p.Glu489Lys missense NM_001408451.1:c.1459G>A NP_001395380.1:p.Glu487Lys missense NM_001408452.1:c.1453G>A NP_001395381.1:p.Glu485Lys missense NM_001408453.1:c.1453G>A NP_001395382.1:p.Glu485Lys missense NM_001408454.1:c.1453G>A NP_001395383.1:p.Glu485Lys missense NM_001408455.1:c.1453G>A NP_001395384.1:p.Glu485Lys missense NM_001408456.1:c.1453G>A NP_001395385.1:p.Glu485Lys missense NM_001408457.1:c.1453G>A NP_001395386.1:p.Glu485Lys missense NM_001408458.1:c.1450G>A NP_001395387.1:p.Glu484Lys missense NM_001408459.1:c.1450G>A NP_001395388.1:p.Glu484Lys missense NM_001408460.1:c.1450G>A NP_001395389.1:p.Glu484Lys missense NM_001408461.1:c.1450G>A NP_001395390.1:p.Glu484Lys missense NM_001408462.1:c.1450G>A NP_001395391.1:p.Glu484Lys missense NM_001408463.1:c.1450G>A NP_001395392.1:p.Glu484Lys missense NM_001408464.1:c.1450G>A NP_001395393.1:p.Glu484Lys missense NM_001408465.1:c.1450G>A NP_001395394.1:p.Glu484Lys missense NM_001408466.1:c.1450G>A NP_001395395.1:p.Glu484Lys missense NM_001408467.1:c.1450G>A NP_001395396.1:p.Glu484Lys missense NM_001408468.1:c.1447G>A NP_001395397.1:p.Glu483Lys missense NM_001408469.1:c.1447G>A NP_001395398.1:p.Glu483Lys missense NM_001408470.1:c.1447G>A NP_001395399.1:p.Glu483Lys missense NM_001408472.1:c.1591G>A NP_001395401.1:p.Glu531Lys missense NM_001408473.1:c.1588G>A NP_001395402.1:p.Glu530Lys missense NM_001408474.1:c.1393G>A NP_001395403.1:p.Glu465Lys missense NM_001408475.1:c.1390G>A NP_001395404.1:p.Glu464Lys missense NM_001408476.1:c.1390G>A NP_001395405.1:p.Glu464Lys missense NM_001408478.1:c.1384G>A NP_001395407.1:p.Glu462Lys missense NM_001408479.1:c.1384G>A NP_001395408.1:p.Glu462Lys missense NM_001408480.1:c.1384G>A NP_001395409.1:p.Glu462Lys missense NM_001408481.1:c.1381G>A NP_001395410.1:p.Glu461Lys missense NM_001408482.1:c.1381G>A NP_001395411.1:p.Glu461Lys missense NM_001408483.1:c.1381G>A NP_001395412.1:p.Glu461Lys missense NM_001408484.1:c.1381G>A NP_001395413.1:p.Glu461Lys missense NM_001408485.1:c.1381G>A NP_001395414.1:p.Glu461Lys missense NM_001408489.1:c.1381G>A NP_001395418.1:p.Glu461Lys missense NM_001408490.1:c.1381G>A NP_001395419.1:p.Glu461Lys missense NM_001408491.1:c.1381G>A NP_001395420.1:p.Glu461Lys missense NM_001408492.1:c.1378G>A NP_001395421.1:p.Glu460Lys missense NM_001408493.1:c.1378G>A NP_001395422.1:p.Glu460Lys missense NM_001408494.1:c.1354G>A NP_001395423.1:p.Glu452Lys missense NM_001408495.1:c.1348G>A NP_001395424.1:p.Glu450Lys missense NM_001408496.1:c.1330G>A NP_001395425.1:p.Glu444Lys missense NM_001408497.1:c.1330G>A NP_001395426.1:p.Glu444Lys missense NM_001408498.1:c.1330G>A NP_001395427.1:p.Glu444Lys missense NM_001408499.1:c.1330G>A NP_001395428.1:p.Glu444Lys missense NM_001408500.1:c.1330G>A NP_001395429.1:p.Glu444Lys missense NM_001408501.1:c.1330G>A NP_001395430.1:p.Glu444Lys missense NM_001408502.1:c.1327G>A NP_001395431.1:p.Glu443Lys missense NM_001408503.1:c.1327G>A NP_001395432.1:p.Glu443Lys missense NM_001408504.1:c.1327G>A NP_001395433.1:p.Glu443Lys missense NM_001408505.1:c.1324G>A NP_001395434.1:p.Glu442Lys missense NM_001408506.1:c.1267G>A NP_001395435.1:p.Glu423Lys missense NM_001408507.1:c.1264G>A NP_001395436.1:p.Glu422Lys missense NM_001408508.1:c.1255G>A NP_001395437.1:p.Glu419Lys missense NM_001408509.1:c.1252G>A NP_001395438.1:p.Glu418Lys missense NM_001408510.1:c.1213G>A NP_001395439.1:p.Glu405Lys missense NM_001408511.1:c.1210G>A NP_001395440.1:p.Glu404Lys missense NM_001408512.1:c.1090G>A NP_001395441.1:p.Glu364Lys missense NM_001408513.1:c.1063G>A NP_001395442.1:p.Glu355Lys missense NM_007297.4:c.4762G>A NP_009228.2:p.Glu1588Lys missense NM_007298.4:c.1591G>A NP_009229.2:p.Glu531Lys missense NM_007299.4:c.1591G>A NP_009230.2:p.Glu531Lys missense NM_007300.4:c.4966G>A NP_009231.2:p.Glu1656Lys missense NM_007304.2:c.1591G>A NP_009235.2:p.Glu531Lys missense NR_027676.2:n.5080G>A non-coding transcript variant NC_000017.11:g.43071011C>T NC_000017.10:g.41223028C>T NG_005905.2:g.146973G>A LRG_292:g.146973G>A LRG_292t1:c.4903G>A LRG_292p1:p.Glu1635Lys - Protein change
- E1635K, E1656K, E1588K, E531K, E1338K, E1466K, E1506K, E1508K, E1523K, E1524K, E1546K, E1547K, E1568K, E1586K, E1593K, E1631K, E364K, E452K, E484K, E489K, E490K, E507K, E532K, E767K, E1339K, E1545K, E1564K, E1565K, E1566K, E1587K, E1615K, E404K, E443K, E460K, E493K, E528K, E530K, E553K, E1507K, E1563K, E1591K, E1594K, E1607K, E1608K, E1609K, E1630K, E1633K, E355K, E419K, E450K, E465K, E491K, E529K, E1481K, E1522K, E1592K, E1616K, E1632K, E1634K, E1655K, E1657K, E405K, E418K, E422K, E423K, E442K, E444K, E461K, E462K, E464K, E483K, E485K, E487K, E492K, E505K, E506K, E554K, E766K
- Other names
- -
- Canonical SPDI
- NC_000017.11:43071010:C:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
functionally_normal; Sequence Ontology [ SO:0002219]The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.4903G>A, a MISSENSE variant, produced a function score of 0.22, corresponding to a functional classification of FUNCTIONAL. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. [submitted by Brotman Baty Institute, University of Washington]
-
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
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13050 | 14856 |
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, single submitter
|
Jul 13, 2022 | RCV000034755.11 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Sep 23, 2021 | RCV000769712.11 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Dec 22, 2023 | RCV001071216.14 | |
Conflicting interpretations of pathogenicity (4) |
criteria provided, conflicting classifications
|
Apr 12, 2024 | RCV000410023.15 | |
Likely benign (1) |
criteria provided, single submitter
|
Feb 17, 2021 | RCV000509803.12 | |
BRCA1-related disorder
|
Uncertain significance (1) |
no assertion criteria provided
|
Jun 12, 2024 | RCV004758618.1 |
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. |
|
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Uncertain significance
(Dec 22, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001236507.5
First in ClinVar: Apr 15, 2020 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 1635 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 1635 of the BRCA1 protein (p.Glu1635Lys). This variant is present in population databases (rs200432771, gnomAD 0.0009%). This missense change has been observed in individual(s) with ovarian cancer (PMID: 21218378). ClinVar contains an entry for this variant (Variation ID: 41829). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is not expected to disrupt BRCA1 function with a negative predictive value of 95%. Experimental studies have shown that this missense change does not substantially affect BRCA1 function (PMID: 30209399). 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. (less)
|
|
Benign
(Apr 12, 2024)
|
criteria provided, single submitter
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
Accession: SCV005402494.1
First in ClinVar: Nov 24, 2024 Last updated: Nov 24, 2024 |
Comment:
Each variant was annotated with functional scores from MAVE data which was translated into functional evidence codes. All other evidence codes and combining criteria were … (more)
Each variant was annotated with functional scores from MAVE data which was translated into functional evidence codes. All other evidence codes and combining criteria were adhered to as closely as possible based on the ClinGen VCEP (Variant Curation Expert Panel) gene-specific recommendations. See Supplemental Figure 34 of final paper (Supp Fig. 28 in preprint: doi:10.1101/2024.04.11.24305690) for a table to see which lines of evidence we did not have data for. The ClinGen VCEPs are highly regarded as the gold-standard for gene-specific variant curation and are developed after extensive evaluation of the evidence by clinical and scientific experts for the particular gene to classify genomic variants on a spectrum from pathogenic to benign using the 2015 ACMG/AMP Variant Interpretation Guidelines as a backbone (PMID: 25741868). Reclassification of these VUS variants from gnomAD or All of Us focused only on variants originally prescribed as VUS in ClinVar. To ensure reproducibility, transparency, and increased throughput, all the procedures for annotating variants and assigning evidence codes were codified using Python. All code has been made freely available and is linked in the Code Availability section and all reclassified variants with evidence codes used can be found in Tables S18-19 (preprint: doi:10.1101/2024.04.11.24305690). For the MAVE data, the clinical curation and clinical strength assignment as per the ClinGen recommendations in Brnich et al. (2020) (PMID: 31892348) for or against pathogenicity or benignity of each of these MAVE datasets utilized in this study were previously published in Fayer et al. (2021) (PMID: 34793697).In brief, for BRCA1 variants, if a variant was categorized as FUNC (functional), it was assigned BS3 evidence and no PS3 evidence, whereas if it was categorized as LOF (loss of function), the variant was assigned PS3 evidence and no BS3 evidence. Variants categorized as INT (intermediate) were left unannotated. For the BRCA1 combining criteria, greater than or equal to 1 criteria of strong benign evidence was enough to reclassify the VUS as Likely Benign. This variant GRCh38:17:43071011:C>T was assigned evidence codes ['BS3', 'BP1_Strong'] and an overall classification of Benign (less)
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Uncertain significance
(Jul 13, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV002820826.1
First in ClinVar: Jan 21, 2023 Last updated: Jan 21, 2023 |
Comment:
Published functional studies demonstrate no damaging effect: variant classified as functional based on a saturation genome editing (SGE) assay measuring cell survival (Findlay et al., … (more)
Published functional studies demonstrate no damaging effect: variant classified as functional based on a saturation genome editing (SGE) assay measuring cell survival (Findlay et al., 2018); In silico analysis supports that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Observed in an individual with ovarian cancer (Carney et al., 2010); Also known as 5022G>A; This variant is associated with the following publications: (PMID: 22703879, 30209399, 31131967, 21218378) (less)
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Likely benign
(Feb 17, 2021)
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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: SCV000608213.5
First in ClinVar: Oct 23, 2017 Last updated: May 01, 2024 |
Comment:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of … (more)
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
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Uncertain significance
(Mar 17, 2024)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004212695.2
First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024 |
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Uncertain significance
(Oct 18, 2016)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
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Counsyl
Accession: SCV000489521.2
First in ClinVar: Jan 06, 2017 Last updated: Dec 24, 2022 |
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Uncertain significance
(Sep 23, 2021)
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criteria provided, single submitter
Method: clinical testing
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Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
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CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Study: Canadian Open Genetics Repository
Accession: SCV000901132.2 First in ClinVar: May 06, 2019 Last updated: Mar 11, 2023 |
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variant of unknown significance
(Jul 13, 2012)
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no assertion criteria provided
Method: research
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not provided
Affected status: no
Allele origin:
germline
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Biesecker Lab/Clinical Genomics Section, National Institutes of Health
Study: ClinSeq
Accession: SCV000043154.1 First in ClinVar: Apr 12, 2013 Last updated: Apr 12, 2013
Comment:
The accession SCV000043154.1 was assigned erroneously to two variants. SCV000043154.1 represents NM_007294.3:c.4903G>A; NM_000077.4:c.150+37G>C is now represented by SCV000043254.1.
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Comment:
Converted during submission to Uncertain significance.
Number of individuals with the variant: 1
Comment on evidence:
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:22703879 for … (more)
The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See Pubmed ID:22703879 for details. (less)
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Uncertain significance
(Jun 12, 2024)
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no assertion criteria provided
Method: clinical testing
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BRCA1-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV005362629.1
First in ClinVar: Oct 08, 2024 Last updated: Oct 08, 2024 |
Comment:
The BRCA1 c.4903G>A variant is predicted to result in the amino acid substitution p.Glu1635Lys. This variant was observed in a patient with ovarian cancer (Table … (more)
The BRCA1 c.4903G>A variant is predicted to result in the amino acid substitution p.Glu1635Lys. This variant was observed in a patient with ovarian cancer (Table 1. Carney ME et al 2010. PubMed ID: 21218378). This variant was also reported in a patient with polyps who had a family history of pancreas cancer, colorectum, other GI cancer, polyps, and melanoma. This individual also carried MSH6, PTEN, and BMPR1A variants (Table. S4 Bhai et al 2021. PubMed ID: 34326862). Functional studies have shown that this variant does not disrupt the function of BRCA1 (Johnston JJ et al. 2012. PubMed ID: 22703879). This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD and has conflicting classifications of pathogenicity in ClinVar ranging from likely benign to uncertain significance (https://www.ncbi.nlm.nih.gov/clinvar/variation/41829/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. (less)
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not provided
(-)
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no classification provided
Method: in vitro
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Breast-ovarian cancer, familial 1
Affected status: not applicable
Allele origin:
not applicable
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Brotman Baty Institute, University of Washington
Accession: SCV001243813.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
FUNCTIONAL:0.218818423209644
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Germline Functional Evidence
Functional
Help
The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
Help
A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
Help
A brief description of the result of this method for 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 functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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functionally_normal
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Method citation(s):
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Brotman Baty Institute, University of Washington
Accession: SCV001243813.1
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Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.4903G>A, a MISSENSE variant, produced a function score of 0.22, corresponding to a functional classification of FUNCTIONAL. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.4903G>A, a MISSENSE variant, produced a function score of 0.22, corresponding to a functional classification of FUNCTIONAL. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. (less)
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Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel. | Parsons MT | American journal of human genetics | 2024 | PMID: 39142283 |
Defining and Reducing Variant Classification Disparities. | Dawood M | medRxiv : the preprint server for health sciences | 2024 | DOI: 10.1101/2024.04.11.24305690 |
Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN. | Fayer S | American journal of human genetics | 2021 | PMID: 34793697 |
Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
Actionable Genes, Core Databases, and Locus-Specific Databases. | Pinard A | Human mutation | 2016 | PMID: 27600092 |
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | Richards S | Genetics in medicine : official journal of the American College of Medical Genetics | 2015 | PMID: 25741868 |
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. | Tung N | Cancer | 2015 | PMID: 25186627 |
Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. | Johnston JJ | American journal of human genetics | 2012 | PMID: 22703879 |
Detection of BRCA1 and BRCA2 mutations in a selected Hawaii population. | Carney ME | Hawaii medical journal | 2010 | PMID: 21218378 |
https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
Text-mined citations for rs200432771 ...
HelpRecord last updated Nov 25, 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.