ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu)
Variation ID: 37476 Accession: VCV000037476.36
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43092947 (GRCh38) [ NCBI UCSC ] 17: 41244964 (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 Aug 10, 2015 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.2584A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Lys862Glu missense NM_001407571.1:c.2371A>G NP_001394500.1:p.Lys791Glu missense NM_001407581.1:c.2584A>G NP_001394510.1:p.Lys862Glu missense NM_001407582.1:c.2584A>G NP_001394511.1:p.Lys862Glu missense NM_001407583.1:c.2584A>G NP_001394512.1:p.Lys862Glu missense NM_001407585.1:c.2584A>G NP_001394514.1:p.Lys862Glu missense NM_001407587.1:c.2581A>G NP_001394516.1:p.Lys861Glu missense NM_001407590.1:c.2581A>G NP_001394519.1:p.Lys861Glu missense NM_001407591.1:c.2581A>G NP_001394520.1:p.Lys861Glu missense NM_001407593.1:c.2584A>G NP_001394522.1:p.Lys862Glu missense NM_001407594.1:c.2584A>G NP_001394523.1:p.Lys862Glu missense NM_001407596.1:c.2584A>G NP_001394525.1:p.Lys862Glu missense NM_001407597.1:c.2584A>G NP_001394526.1:p.Lys862Glu missense NM_001407598.1:c.2584A>G NP_001394527.1:p.Lys862Glu missense NM_001407602.1:c.2584A>G NP_001394531.1:p.Lys862Glu missense NM_001407603.1:c.2584A>G NP_001394532.1:p.Lys862Glu missense NM_001407605.1:c.2584A>G NP_001394534.1:p.Lys862Glu missense NM_001407610.1:c.2581A>G NP_001394539.1:p.Lys861Glu missense NM_001407611.1:c.2581A>G NP_001394540.1:p.Lys861Glu missense NM_001407612.1:c.2581A>G NP_001394541.1:p.Lys861Glu missense NM_001407613.1:c.2581A>G NP_001394542.1:p.Lys861Glu missense NM_001407614.1:c.2581A>G NP_001394543.1:p.Lys861Glu missense NM_001407615.1:c.2581A>G NP_001394544.1:p.Lys861Glu missense NM_001407616.1:c.2584A>G NP_001394545.1:p.Lys862Glu missense NM_001407617.1:c.2584A>G NP_001394546.1:p.Lys862Glu missense NM_001407618.1:c.2584A>G NP_001394547.1:p.Lys862Glu missense NM_001407619.1:c.2584A>G NP_001394548.1:p.Lys862Glu missense NM_001407620.1:c.2584A>G NP_001394549.1:p.Lys862Glu missense NM_001407621.1:c.2584A>G NP_001394550.1:p.Lys862Glu missense NM_001407622.1:c.2584A>G NP_001394551.1:p.Lys862Glu missense NM_001407623.1:c.2584A>G NP_001394552.1:p.Lys862Glu missense NM_001407624.1:c.2584A>G NP_001394553.1:p.Lys862Glu missense NM_001407625.1:c.2584A>G NP_001394554.1:p.Lys862Glu missense NM_001407626.1:c.2584A>G NP_001394555.1:p.Lys862Glu missense NM_001407627.1:c.2581A>G NP_001394556.1:p.Lys861Glu missense NM_001407628.1:c.2581A>G NP_001394557.1:p.Lys861Glu missense NM_001407629.1:c.2581A>G NP_001394558.1:p.Lys861Glu missense NM_001407630.1:c.2581A>G NP_001394559.1:p.Lys861Glu missense NM_001407631.1:c.2581A>G NP_001394560.1:p.Lys861Glu missense NM_001407632.1:c.2581A>G NP_001394561.1:p.Lys861Glu missense NM_001407633.1:c.2581A>G NP_001394562.1:p.Lys861Glu missense NM_001407634.1:c.2581A>G NP_001394563.1:p.Lys861Glu missense NM_001407635.1:c.2581A>G NP_001394564.1:p.Lys861Glu missense NM_001407636.1:c.2581A>G NP_001394565.1:p.Lys861Glu missense NM_001407637.1:c.2581A>G NP_001394566.1:p.Lys861Glu missense NM_001407638.1:c.2581A>G NP_001394567.1:p.Lys861Glu missense NM_001407639.1:c.2584A>G NP_001394568.1:p.Lys862Glu missense NM_001407640.1:c.2584A>G NP_001394569.1:p.Lys862Glu missense NM_001407641.1:c.2584A>G NP_001394570.1:p.Lys862Glu missense NM_001407642.1:c.2584A>G NP_001394571.1:p.Lys862Glu missense NM_001407644.1:c.2581A>G NP_001394573.1:p.Lys861Glu missense NM_001407645.1:c.2581A>G NP_001394574.1:p.Lys861Glu missense NM_001407646.1:c.2575A>G NP_001394575.1:p.Lys859Glu missense NM_001407647.1:c.2575A>G NP_001394576.1:p.Lys859Glu missense NM_001407648.1:c.2461A>G NP_001394577.1:p.Lys821Glu missense NM_001407649.1:c.2458A>G NP_001394578.1:p.Lys820Glu missense NM_001407652.1:c.2584A>G NP_001394581.1:p.Lys862Glu missense NM_001407653.1:c.2506A>G NP_001394582.1:p.Lys836Glu missense NM_001407654.1:c.2506A>G NP_001394583.1:p.Lys836Glu missense NM_001407655.1:c.2506A>G NP_001394584.1:p.Lys836Glu missense NM_001407656.1:c.2506A>G NP_001394585.1:p.Lys836Glu missense NM_001407657.1:c.2506A>G NP_001394586.1:p.Lys836Glu missense NM_001407658.1:c.2506A>G NP_001394587.1:p.Lys836Glu missense NM_001407659.1:c.2503A>G NP_001394588.1:p.Lys835Glu missense NM_001407660.1:c.2503A>G NP_001394589.1:p.Lys835Glu missense NM_001407661.1:c.2503A>G NP_001394590.1:p.Lys835Glu missense NM_001407662.1:c.2503A>G NP_001394591.1:p.Lys835Glu missense NM_001407663.1:c.2506A>G NP_001394592.1:p.Lys836Glu missense NM_001407664.1:c.2461A>G NP_001394593.1:p.Lys821Glu missense NM_001407665.1:c.2461A>G NP_001394594.1:p.Lys821Glu missense NM_001407666.1:c.2461A>G NP_001394595.1:p.Lys821Glu missense NM_001407667.1:c.2461A>G NP_001394596.1:p.Lys821Glu missense NM_001407668.1:c.2461A>G NP_001394597.1:p.Lys821Glu missense NM_001407669.1:c.2461A>G NP_001394598.1:p.Lys821Glu missense NM_001407670.1:c.2458A>G NP_001394599.1:p.Lys820Glu missense NM_001407671.1:c.2458A>G NP_001394600.1:p.Lys820Glu missense NM_001407672.1:c.2458A>G NP_001394601.1:p.Lys820Glu missense NM_001407673.1:c.2458A>G NP_001394602.1:p.Lys820Glu missense NM_001407674.1:c.2461A>G NP_001394603.1:p.Lys821Glu missense NM_001407675.1:c.2461A>G NP_001394604.1:p.Lys821Glu missense NM_001407676.1:c.2461A>G NP_001394605.1:p.Lys821Glu missense NM_001407677.1:c.2461A>G NP_001394606.1:p.Lys821Glu missense NM_001407678.1:c.2461A>G NP_001394607.1:p.Lys821Glu missense NM_001407679.1:c.2461A>G NP_001394608.1:p.Lys821Glu missense NM_001407680.1:c.2461A>G NP_001394609.1:p.Lys821Glu missense NM_001407681.1:c.2461A>G NP_001394610.1:p.Lys821Glu missense NM_001407682.1:c.2461A>G NP_001394611.1:p.Lys821Glu missense NM_001407683.1:c.2461A>G NP_001394612.1:p.Lys821Glu missense NM_001407684.1:c.2584A>G NP_001394613.1:p.Lys862Glu missense NM_001407685.1:c.2458A>G NP_001394614.1:p.Lys820Glu missense NM_001407686.1:c.2458A>G NP_001394615.1:p.Lys820Glu missense NM_001407687.1:c.2458A>G NP_001394616.1:p.Lys820Glu missense NM_001407688.1:c.2458A>G NP_001394617.1:p.Lys820Glu missense NM_001407689.1:c.2458A>G NP_001394618.1:p.Lys820Glu missense NM_001407690.1:c.2458A>G NP_001394619.1:p.Lys820Glu missense NM_001407691.1:c.2458A>G NP_001394620.1:p.Lys820Glu missense NM_001407692.1:c.2443A>G NP_001394621.1:p.Lys815Glu missense NM_001407694.1:c.2443A>G NP_001394623.1:p.Lys815Glu missense NM_001407695.1:c.2443A>G NP_001394624.1:p.Lys815Glu missense NM_001407696.1:c.2443A>G NP_001394625.1:p.Lys815Glu missense NM_001407697.1:c.2443A>G NP_001394626.1:p.Lys815Glu missense NM_001407698.1:c.2443A>G NP_001394627.1:p.Lys815Glu missense NM_001407724.1:c.2443A>G NP_001394653.1:p.Lys815Glu missense NM_001407725.1:c.2443A>G NP_001394654.1:p.Lys815Glu missense NM_001407726.1:c.2443A>G NP_001394655.1:p.Lys815Glu missense NM_001407727.1:c.2443A>G NP_001394656.1:p.Lys815Glu missense NM_001407728.1:c.2443A>G NP_001394657.1:p.Lys815Glu missense NM_001407729.1:c.2443A>G NP_001394658.1:p.Lys815Glu missense NM_001407730.1:c.2443A>G NP_001394659.1:p.Lys815Glu missense NM_001407731.1:c.2443A>G NP_001394660.1:p.Lys815Glu missense NM_001407732.1:c.2443A>G NP_001394661.1:p.Lys815Glu missense NM_001407733.1:c.2443A>G NP_001394662.1:p.Lys815Glu missense NM_001407734.1:c.2443A>G NP_001394663.1:p.Lys815Glu missense NM_001407735.1:c.2443A>G NP_001394664.1:p.Lys815Glu missense NM_001407736.1:c.2443A>G NP_001394665.1:p.Lys815Glu missense NM_001407737.1:c.2443A>G NP_001394666.1:p.Lys815Glu missense NM_001407738.1:c.2443A>G NP_001394667.1:p.Lys815Glu missense NM_001407739.1:c.2443A>G NP_001394668.1:p.Lys815Glu missense NM_001407740.1:c.2440A>G NP_001394669.1:p.Lys814Glu missense NM_001407741.1:c.2440A>G NP_001394670.1:p.Lys814Glu missense NM_001407742.1:c.2440A>G NP_001394671.1:p.Lys814Glu missense NM_001407743.1:c.2440A>G NP_001394672.1:p.Lys814Glu missense NM_001407744.1:c.2440A>G NP_001394673.1:p.Lys814Glu missense NM_001407745.1:c.2440A>G NP_001394674.1:p.Lys814Glu missense NM_001407746.1:c.2440A>G NP_001394675.1:p.Lys814Glu missense NM_001407747.1:c.2440A>G NP_001394676.1:p.Lys814Glu missense NM_001407748.1:c.2440A>G NP_001394677.1:p.Lys814Glu missense NM_001407749.1:c.2440A>G NP_001394678.1:p.Lys814Glu missense NM_001407750.1:c.2443A>G NP_001394679.1:p.Lys815Glu missense NM_001407751.1:c.2443A>G NP_001394680.1:p.Lys815Glu missense NM_001407752.1:c.2443A>G NP_001394681.1:p.Lys815Glu missense NM_001407838.1:c.2440A>G NP_001394767.1:p.Lys814Glu missense NM_001407839.1:c.2440A>G NP_001394768.1:p.Lys814Glu missense NM_001407841.1:c.2440A>G NP_001394770.1:p.Lys814Glu missense NM_001407842.1:c.2440A>G NP_001394771.1:p.Lys814Glu missense NM_001407843.1:c.2440A>G NP_001394772.1:p.Lys814Glu missense NM_001407844.1:c.2440A>G NP_001394773.1:p.Lys814Glu missense NM_001407845.1:c.2440A>G NP_001394774.1:p.Lys814Glu missense NM_001407846.1:c.2440A>G NP_001394775.1:p.Lys814Glu missense NM_001407847.1:c.2440A>G NP_001394776.1:p.Lys814Glu missense NM_001407848.1:c.2440A>G NP_001394777.1:p.Lys814Glu missense NM_001407849.1:c.2440A>G NP_001394778.1:p.Lys814Glu missense NM_001407850.1:c.2443A>G NP_001394779.1:p.Lys815Glu missense NM_001407851.1:c.2443A>G NP_001394780.1:p.Lys815Glu missense NM_001407852.1:c.2443A>G NP_001394781.1:p.Lys815Glu missense NM_001407853.1:c.2371A>G NP_001394782.1:p.Lys791Glu missense NM_001407854.1:c.2584A>G NP_001394783.1:p.Lys862Glu missense NM_001407858.1:c.2584A>G NP_001394787.1:p.Lys862Glu missense NM_001407859.1:c.2584A>G NP_001394788.1:p.Lys862Glu missense NM_001407860.1:c.2581A>G NP_001394789.1:p.Lys861Glu missense NM_001407861.1:c.2581A>G NP_001394790.1:p.Lys861Glu missense NM_001407862.1:c.2383A>G NP_001394791.1:p.Lys795Glu missense NM_001407863.1:c.2461A>G NP_001394792.1:p.Lys821Glu missense NM_001407874.1:c.2380A>G NP_001394803.1:p.Lys794Glu missense NM_001407875.1:c.2380A>G NP_001394804.1:p.Lys794Glu missense NM_001407879.1:c.2374A>G NP_001394808.1:p.Lys792Glu missense NM_001407881.1:c.2374A>G NP_001394810.1:p.Lys792Glu missense NM_001407882.1:c.2374A>G NP_001394811.1:p.Lys792Glu missense NM_001407884.1:c.2374A>G NP_001394813.1:p.Lys792Glu missense NM_001407885.1:c.2374A>G NP_001394814.1:p.Lys792Glu missense NM_001407886.1:c.2374A>G NP_001394815.1:p.Lys792Glu missense NM_001407887.1:c.2374A>G NP_001394816.1:p.Lys792Glu missense NM_001407889.1:c.2374A>G NP_001394818.1:p.Lys792Glu missense NM_001407894.1:c.2371A>G NP_001394823.1:p.Lys791Glu missense NM_001407895.1:c.2371A>G NP_001394824.1:p.Lys791Glu missense NM_001407896.1:c.2371A>G NP_001394825.1:p.Lys791Glu missense NM_001407897.1:c.2371A>G NP_001394826.1:p.Lys791Glu missense NM_001407898.1:c.2371A>G NP_001394827.1:p.Lys791Glu missense NM_001407899.1:c.2371A>G NP_001394828.1:p.Lys791Glu missense NM_001407900.1:c.2374A>G NP_001394829.1:p.Lys792Glu missense NM_001407902.1:c.2374A>G NP_001394831.1:p.Lys792Glu missense NM_001407904.1:c.2374A>G NP_001394833.1:p.Lys792Glu missense NM_001407906.1:c.2374A>G NP_001394835.1:p.Lys792Glu missense NM_001407907.1:c.2374A>G NP_001394836.1:p.Lys792Glu missense NM_001407908.1:c.2374A>G NP_001394837.1:p.Lys792Glu missense NM_001407909.1:c.2374A>G NP_001394838.1:p.Lys792Glu missense NM_001407910.1:c.2374A>G NP_001394839.1:p.Lys792Glu missense NM_001407915.1:c.2371A>G NP_001394844.1:p.Lys791Glu missense NM_001407916.1:c.2371A>G NP_001394845.1:p.Lys791Glu missense NM_001407917.1:c.2371A>G NP_001394846.1:p.Lys791Glu missense NM_001407918.1:c.2371A>G NP_001394847.1:p.Lys791Glu missense NM_001407919.1:c.2461A>G NP_001394848.1:p.Lys821Glu missense NM_001407920.1:c.2320A>G NP_001394849.1:p.Lys774Glu missense NM_001407921.1:c.2320A>G NP_001394850.1:p.Lys774Glu missense NM_001407922.1:c.2320A>G NP_001394851.1:p.Lys774Glu missense NM_001407923.1:c.2320A>G NP_001394852.1:p.Lys774Glu missense NM_001407924.1:c.2320A>G NP_001394853.1:p.Lys774Glu missense NM_001407925.1:c.2320A>G NP_001394854.1:p.Lys774Glu missense NM_001407926.1:c.2320A>G NP_001394855.1:p.Lys774Glu missense NM_001407927.1:c.2320A>G NP_001394856.1:p.Lys774Glu missense NM_001407928.1:c.2320A>G NP_001394857.1:p.Lys774Glu missense NM_001407929.1:c.2320A>G NP_001394858.1:p.Lys774Glu missense NM_001407930.1:c.2317A>G NP_001394859.1:p.Lys773Glu missense NM_001407931.1:c.2317A>G NP_001394860.1:p.Lys773Glu missense NM_001407932.1:c.2317A>G NP_001394861.1:p.Lys773Glu missense NM_001407933.1:c.2320A>G NP_001394862.1:p.Lys774Glu missense NM_001407934.1:c.2317A>G NP_001394863.1:p.Lys773Glu missense NM_001407935.1:c.2320A>G NP_001394864.1:p.Lys774Glu missense NM_001407936.1:c.2317A>G NP_001394865.1:p.Lys773Glu missense NM_001407937.1:c.2461A>G NP_001394866.1:p.Lys821Glu missense NM_001407938.1:c.2461A>G NP_001394867.1:p.Lys821Glu missense NM_001407939.1:c.2461A>G NP_001394868.1:p.Lys821Glu missense NM_001407940.1:c.2458A>G NP_001394869.1:p.Lys820Glu missense NM_001407941.1:c.2458A>G NP_001394870.1:p.Lys820Glu missense NM_001407942.1:c.2443A>G NP_001394871.1:p.Lys815Glu missense NM_001407943.1:c.2440A>G NP_001394872.1:p.Lys814Glu missense NM_001407944.1:c.2443A>G NP_001394873.1:p.Lys815Glu missense NM_001407945.1:c.2443A>G NP_001394874.1:p.Lys815Glu missense NM_001407946.1:c.2251A>G NP_001394875.1:p.Lys751Glu missense NM_001407947.1:c.2251A>G NP_001394876.1:p.Lys751Glu missense NM_001407948.1:c.2251A>G NP_001394877.1:p.Lys751Glu missense NM_001407949.1:c.2251A>G NP_001394878.1:p.Lys751Glu missense NM_001407950.1:c.2251A>G NP_001394879.1:p.Lys751Glu missense NM_001407951.1:c.2251A>G NP_001394880.1:p.Lys751Glu missense NM_001407952.1:c.2251A>G NP_001394881.1:p.Lys751Glu missense NM_001407953.1:c.2251A>G NP_001394882.1:p.Lys751Glu missense NM_001407954.1:c.2248A>G NP_001394883.1:p.Lys750Glu missense NM_001407955.1:c.2248A>G NP_001394884.1:p.Lys750Glu missense NM_001407956.1:c.2248A>G NP_001394885.1:p.Lys750Glu missense NM_001407957.1:c.2251A>G NP_001394886.1:p.Lys751Glu missense NM_001407958.1:c.2248A>G NP_001394887.1:p.Lys750Glu missense NM_001407959.1:c.2203A>G NP_001394888.1:p.Lys735Glu missense NM_001407960.1:c.2203A>G NP_001394889.1:p.Lys735Glu missense NM_001407962.1:c.2200A>G NP_001394891.1:p.Lys734Glu missense NM_001407963.1:c.2203A>G NP_001394892.1:p.Lys735Glu missense NM_001407964.1:c.2440A>G NP_001394893.1:p.Lys814Glu missense NM_001407965.1:c.2080A>G NP_001394894.1:p.Lys694Glu missense NM_001407966.1:c.1696A>G NP_001394895.1:p.Lys566Glu missense NM_001407967.1:c.1696A>G NP_001394896.1:p.Lys566Glu missense NM_001407968.1:c.788-808A>G intron variant NM_001407969.1:c.788-808A>G intron variant NM_001407970.1:c.787+1797A>G intron variant NM_001407971.1:c.787+1797A>G intron variant NM_001407972.1:c.784+1797A>G intron variant NM_001407973.1:c.787+1797A>G intron variant NM_001407974.1:c.787+1797A>G intron variant NM_001407975.1:c.787+1797A>G intron variant NM_001407976.1:c.787+1797A>G intron variant NM_001407977.1:c.787+1797A>G intron variant NM_001407978.1:c.787+1797A>G intron variant NM_001407979.1:c.787+1797A>G intron variant NM_001407980.1:c.787+1797A>G intron variant NM_001407981.1:c.787+1797A>G intron variant NM_001407982.1:c.787+1797A>G intron variant NM_001407983.1:c.787+1797A>G intron variant NM_001407984.1:c.784+1797A>G intron variant NM_001407985.1:c.784+1797A>G intron variant NM_001407986.1:c.784+1797A>G intron variant NM_001407990.1:c.787+1797A>G intron variant NM_001407991.1:c.784+1797A>G intron variant NM_001407992.1:c.784+1797A>G intron variant NM_001407993.1:c.787+1797A>G intron variant NM_001408392.1:c.784+1797A>G intron variant NM_001408396.1:c.784+1797A>G intron variant NM_001408397.1:c.784+1797A>G intron variant NM_001408398.1:c.784+1797A>G intron variant NM_001408399.1:c.784+1797A>G intron variant NM_001408400.1:c.784+1797A>G intron variant NM_001408401.1:c.784+1797A>G intron variant NM_001408402.1:c.784+1797A>G intron variant NM_001408403.1:c.787+1797A>G intron variant NM_001408404.1:c.787+1797A>G intron variant NM_001408406.1:c.790+1794A>G intron variant NM_001408407.1:c.784+1797A>G intron variant NM_001408408.1:c.778+1797A>G intron variant NM_001408409.1:c.709+1797A>G intron variant NM_001408410.1:c.646+1797A>G intron variant NM_001408411.1:c.709+1797A>G intron variant NM_001408412.1:c.709+1797A>G intron variant NM_001408413.1:c.706+1797A>G intron variant NM_001408414.1:c.709+1797A>G intron variant NM_001408415.1:c.709+1797A>G intron variant NM_001408416.1:c.706+1797A>G intron variant NM_001408418.1:c.671-1915A>G intron variant NM_001408419.1:c.671-1915A>G intron variant NM_001408420.1:c.671-1915A>G intron variant NM_001408421.1:c.668-1915A>G intron variant NM_001408422.1:c.671-1915A>G intron variant NM_001408423.1:c.671-1915A>G intron variant NM_001408424.1:c.668-1915A>G intron variant NM_001408425.1:c.664+1797A>G intron variant NM_001408426.1:c.664+1797A>G intron variant NM_001408427.1:c.664+1797A>G intron variant NM_001408428.1:c.664+1797A>G intron variant NM_001408429.1:c.664+1797A>G intron variant NM_001408430.1:c.664+1797A>G intron variant NM_001408431.1:c.668-1915A>G intron variant NM_001408432.1:c.661+1797A>G intron variant NM_001408433.1:c.661+1797A>G intron variant NM_001408434.1:c.661+1797A>G intron variant NM_001408435.1:c.661+1797A>G intron variant NM_001408436.1:c.664+1797A>G intron variant NM_001408437.1:c.664+1797A>G intron variant NM_001408438.1:c.664+1797A>G intron variant NM_001408439.1:c.664+1797A>G intron variant NM_001408440.1:c.664+1797A>G intron variant NM_001408441.1:c.664+1797A>G intron variant NM_001408442.1:c.664+1797A>G intron variant NM_001408443.1:c.664+1797A>G intron variant NM_001408444.1:c.664+1797A>G intron variant NM_001408445.1:c.661+1797A>G intron variant NM_001408446.1:c.661+1797A>G intron variant NM_001408447.1:c.661+1797A>G intron variant NM_001408448.1:c.661+1797A>G intron variant NM_001408450.1:c.661+1797A>G intron variant NM_001408451.1:c.652+1797A>G intron variant NM_001408452.1:c.646+1797A>G intron variant NM_001408453.1:c.646+1797A>G intron variant NM_001408454.1:c.646+1797A>G intron variant NM_001408455.1:c.646+1797A>G intron variant NM_001408456.1:c.646+1797A>G intron variant NM_001408457.1:c.646+1797A>G intron variant NM_001408458.1:c.646+1797A>G intron variant NM_001408459.1:c.646+1797A>G intron variant NM_001408460.1:c.646+1797A>G intron variant NM_001408461.1:c.646+1797A>G intron variant NM_001408462.1:c.643+1797A>G intron variant NM_001408463.1:c.643+1797A>G intron variant NM_001408464.1:c.643+1797A>G intron variant NM_001408465.1:c.643+1797A>G intron variant NM_001408466.1:c.646+1797A>G intron variant NM_001408467.1:c.646+1797A>G intron variant NM_001408468.1:c.643+1797A>G intron variant NM_001408469.1:c.646+1797A>G intron variant NM_001408470.1:c.643+1797A>G intron variant NM_001408472.1:c.787+1797A>G intron variant NM_001408473.1:c.784+1797A>G intron variant NM_001408474.1:c.586+1797A>G intron variant NM_001408475.1:c.583+1797A>G intron variant NM_001408476.1:c.586+1797A>G intron variant NM_001408478.1:c.577+1797A>G intron variant NM_001408479.1:c.577+1797A>G intron variant NM_001408480.1:c.577+1797A>G intron variant NM_001408481.1:c.577+1797A>G intron variant NM_001408482.1:c.577+1797A>G intron variant NM_001408483.1:c.577+1797A>G intron variant NM_001408484.1:c.577+1797A>G intron variant NM_001408485.1:c.577+1797A>G intron variant NM_001408489.1:c.577+1797A>G intron variant NM_001408490.1:c.574+1797A>G intron variant NM_001408491.1:c.574+1797A>G intron variant NM_001408492.1:c.577+1797A>G intron variant NM_001408493.1:c.574+1797A>G intron variant NM_001408494.1:c.548-1915A>G intron variant NM_001408495.1:c.545-1915A>G intron variant NM_001408496.1:c.523+1797A>G intron variant NM_001408497.1:c.523+1797A>G intron variant NM_001408498.1:c.523+1797A>G intron variant NM_001408499.1:c.523+1797A>G intron variant NM_001408500.1:c.523+1797A>G intron variant NM_001408501.1:c.523+1797A>G intron variant NM_001408502.1:c.454+1797A>G intron variant NM_001408503.1:c.520+1797A>G intron variant NM_001408504.1:c.520+1797A>G intron variant NM_001408505.1:c.520+1797A>G intron variant NM_001408506.1:c.461-1915A>G intron variant NM_001408507.1:c.461-1915A>G intron variant NM_001408508.1:c.451+1797A>G intron variant NM_001408509.1:c.451+1797A>G intron variant NM_001408510.1:c.406+1797A>G intron variant NM_001408511.1:c.404-1915A>G intron variant NM_001408512.1:c.283+1797A>G intron variant NM_001408513.1:c.577+1797A>G intron variant NM_001408514.1:c.577+1797A>G intron variant NM_007297.4:c.2443A>G NP_009228.2:p.Lys815Glu missense NM_007298.4:c.787+1797A>G intron variant NM_007299.4:c.787+1797A>G intron variant NM_007300.3:c.2584A>G NM_007300.4:c.2584A>G NP_009231.2:p.Lys862Glu missense NR_027676.1:n.2720A>G NC_000017.11:g.43092947T>C NC_000017.10:g.41244964T>C NG_005905.2:g.125037A>G LRG_292:g.125037A>G LRG_292t1:c.2584A>G LRG_292p1:p.Lys862Glu U14680.1:n.2703A>G - Protein change
- K862E, K815E, K773E, K792E, K794E, K566E, K735E, K795E, K820E, K861E, K694E, K734E, K750E, K751E, K774E, K791E, K836E, K859E, K814E, K821E, K835E
- Other names
- p.K862E:AAG>GAG
- 2703A>G
- Canonical SPDI
- NC_000017.11:43092946:T:C
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00006
Exome Aggregation Consortium (ExAC) 0.00010
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
12887 | 14672 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Benign (4) |
reviewed by expert panel
|
Aug 10, 2015 | RCV000031057.16 | |
Benign/Likely benign (3) |
criteria provided, multiple submitters, no conflicts
|
Sep 26, 2019 | RCV000074574.23 | |
Benign/Likely benign (3) |
criteria provided, multiple submitters, no conflicts
|
Jun 22, 2021 | RCV000162978.14 | |
Conflicting interpretations of pathogenicity (4) |
criteria provided, conflicting classifications
|
Jul 19, 2023 | RCV000758799.21 | |
Benign (1) |
criteria provided, single submitter
|
Jan 10, 2024 | RCV001084418.13 | |
Likely benign (1) |
criteria provided, single submitter
|
Apr 9, 2021 | RCV001798028.10 | |
Likely benign (1) |
no assertion criteria provided
|
- | RCV001357913.9 | |
BRCA1-related disorder
|
Likely benign (1) |
criteria provided, single submitter
|
Sep 24, 2019 | RCV004554623.1 |
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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Benign
(Aug 10, 2015)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000244324.1
First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015 |
Comment:
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 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 1 based on posterior probability = 0.00000991 (less)
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Likely benign
(Apr 13, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: no
Allele origin:
germline
|
Genetic Services Laboratory, University of Chicago
Accession: SCV000593691.1
First in ClinVar: Jan 07, 2017 Last updated: Jan 07, 2017 |
|
|
Benign
(Sep 26, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000918734.2
First in ClinVar: Jun 02, 2019 Last updated: Jun 22, 2020 |
Comment:
Variant summary: BRCA1 c.2584A>G (p.Lys862Glu) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign … (more)
Variant summary: BRCA1 c.2584A>G (p.Lys862Glu) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 6e-05 in 251066 control chromosomes (gnomAD). This frequency is not higher than expected for a pathogenic variant in BRCA1 causing Hereditary Breast and Ovarian Cancer (6e-05 vs 0.001), allowing no conclusion about variant significance. c.2584A>G has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer, however these reports do not provide evidence for pathogenicity (Judkins_2005, Wong-Brown_2015, Anczukow_2008, Kurian_2008, Minucci_2015, Peyrat_1998, Li_2018, Kraemer_2019). In addition, multifactorial probability models, performing systematic assessments of variants of unknown significance in the BRCA genes, which included analysis of co-occurrence in trans with known deleterious mutations, personal and family history of cancer, tumor pathology and co-segregation with disease in pedigrees, predicted this variant to be neutral (Easton 2007 and Lindor 2012). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Six other submitters, including one expert panel (ENIGMA), have provided clinical-significance assessments for this variant in ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as likely benign while the expert panel has classified the variant as benign. Based on the evidence outlined above, the variant was classified as benign. (less)
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Likely benign
(Jun 27, 2019)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000108659.11
First in ClinVar: Dec 10, 2013 Last updated: Dec 19, 2017 |
Comment:
This variant is associated with the following publications: (PMID: 21990134, 16518693, 22753008, 17924331, 26306726, 16267036, 23893897, 18273839, 25682074, 18951461, 18779604, 15385441, 25348012, 29453630)
|
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Benign
(Jul 07, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
Accession: SCV004016763.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
|
|
Likely benign
(Jul 19, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000887646.3
First in ClinVar: Mar 14, 2019 Last updated: Jan 06, 2024 |
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Likely benign
(Sep 24, 2019)
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criteria provided, single submitter
Method: clinical testing
|
BRCA1-related condition
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV004740207.1
First in ClinVar: Mar 16, 2024 Last updated: Mar 16, 2024 |
Comment:
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
|
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Likely benign
(Nov 25, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000537503.1
First in ClinVar: Mar 24, 2015 Last updated: Mar 24, 2015 |
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Likely benign
(Apr 09, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
|
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV002043433.1
First in ClinVar: Jan 03, 2022 Last updated: Jan 03, 2022 |
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Uncertain significance
(Nov 09, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV002049438.1
First in ClinVar: Jan 08, 2022 Last updated: Jan 08, 2022 |
Comment:
The BRCA1 c.2584A>G; p.Lys862Glu variant (rs80356927) is reported in the literature in individuals affected with breast and/or ovarian cancer, although it was no demonstrated to … (more)
The BRCA1 c.2584A>G; p.Lys862Glu variant (rs80356927) is reported in the literature in individuals affected with breast and/or ovarian cancer, although it was no demonstrated to be disease-causing (Peyrat 1998). This variant is reported as benign or likely benign by multiple laboratories in ClinVar (Variation ID: 37476), and it is found in the general population with an overall allele frequency of 0.01% (16/282472 alleles) in the Genome Aggregation Database. The lysine at codon 862 is moderately conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.808). However, multifactorial likelihood analysis considering family history of disease, co-occurrence with pathogenic variants, and co-segregation with disease suggest this variant has very low odds of causing disease (Easton 2007, Lindor 2012). However, given the lack of clinical and functional data, the significance of the p.Lys862Glu variant is uncertain at this time. References: Easton DF et al. A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am J Hum Genet. 2007 Nov;81(5):873-83. PMID: 17924331. Lindor NM et al. A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). Hum Mutat. 2012 Jan;33(1):8-21. PMID: 21990134 Peyrat JP et al. Germline BRCA1 mutations in patients from 84 families with breast and/or ovarian cancers in northern France. Eur J Cancer Prev. 1998 Feb;7 Suppl 1:S7-12. PMID: 10866029. (less)
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Likely benign
(Jun 22, 2021)
|
criteria provided, single submitter
Method: curation
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002538136.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
|
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Benign
(Nov 18, 2014)
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criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000213466.6
First in ClinVar: Mar 24, 2015 Last updated: May 01, 2024 |
Comment:
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation … (more)
This alteration is classified as 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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Benign
(Jan 10, 2024)
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criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000075900.13
First in ClinVar: Jul 03, 2013 Last updated: Feb 14, 2024 |
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Benign
(Feb 10, 2010)
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no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
|
Sharing Clinical Reports Project (SCRP)
Accession: SCV000053652.4
First in ClinVar: Apr 04, 2013 Last updated: Sep 29, 2015 |
|
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Likely benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001905900.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 2021 |
|
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Uncertain significance
(May 29, 2002)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
|
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144481.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 1
Ethnicity/Population group: Ashkenazi
Observation 2:
Number of individuals with the variant: 1
Ethnicity/Population group: Central/Eastern European
Observation 3:
Number of individuals with the variant: 1
Ethnicity/Population group: Hispanic
Observation 4:
Number of individuals with the variant: 2
Ethnicity/Population group: Western European
|
|
Likely benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
Malignant tumor of breast
Affected status: yes
Allele origin:
unknown
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Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV001553513.1 First in ClinVar: Apr 13, 2021 Last updated: Apr 13, 2021 |
Comment:
The BRCA1 p.Lys862Glu variant was identified in 8 of 111260 proband chromosomes (frequency: 0.00007) from individuals or families with breast cancer (Judkins 2005). The variant … (more)
The BRCA1 p.Lys862Glu variant was identified in 8 of 111260 proband chromosomes (frequency: 0.00007) from individuals or families with breast cancer (Judkins 2005). The variant was also identified in dbSNP (ID: rs80356927) as “With Likely benign allele”, Clinvitae database (classified as benign by ClinVar; classified as likely benign by ClinVar, Invitae), Fanconi Anemia Mutation Database (LOVD), ARUP Laboratories BRCA Mutations Database (classified as not pathogenic or of no clinical significance), the ClinVar database (classified as benign by ENIGMA, Ambry genetics, SCRP; classified as likely benign by Invitae, GeneDx; classified as uncertain significance by BIC), the BIC database (5x with unknown clinical importance), and UMD (12x with a “likely neutral” classification). This variant was identified in the Exome Aggregation Consortium database (August 8th 2016) in 12 of 121328 chromosomes (freq. 0.0001) in the following populations: European in 8 of 66696 chromosomes (freq. 0.0001), Asian in 3 of 16502 chromosomes (freq. 0.0002), Finnish in 1 of 6614 chromosomes (freq. 0.0002), but was not seen in African, Latino and Other populations. The p.Lys862 residue is not conserved in mammals and four out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) do not suggest a high likelihood of impact to the protein; however, this information is not predictive enough to rule out pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. The variant was also classified as neutral with odds in favor of neutrality 2059 in a study utilizing evidence of co-occurrence with a pathogenic variant, family history and if available segregation of the variant with disease (Easton 2007). The variant was also found to have a probability of being deleterious of 9.91√ó10‚à Ã6 in a similar study (Lindor 2012). In addition, a study by Burk-Herrick (2005) found the variant has no effect by analyzing 19 marsupials and 94 eutherian mammal sequences, which were used to rank oncogenic risk of missence mutations based on conservation. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign. (less)
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Benign
(-)
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no assertion criteria provided
Method: clinical testing
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not specified
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: SCV001957180.1 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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Exome-wide evaluation of rare coding variants using electronic health records identifies new gene-phenotype associations. | Park J | Nature medicine | 2021 | PMID: 33432171 |
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 |
Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots". | Dines JN | Genetics in medicine : official journal of the American College of Medical Genetics | 2020 | PMID: 31911673 |
Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort. | Kraemer D | Swiss medical weekly | 2019 | PMID: 31422574 |
Mutational landscape of primary, metastatic, and recurrent ovarian cancer reveals c-MYC gains as potential target for BET inhibitors. | Li C | Proceedings of the National Academy of Sciences of the United States of America | 2019 | PMID: 30584090 |
Somatic BRCA1 mutations in clinically sporadic breast cancer with medullary histological features. | Rechsteiner M | Journal of cancer research and clinical oncology | 2018 | PMID: 29453630 |
Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review. | Minucci A | Expert review of molecular diagnostics | 2015 | PMID: 26306726 |
Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer. | Wong-Brown MW | Breast cancer research and treatment | 2015 | PMID: 25682074 |
A guide for functional analysis of BRCA1 variants of uncertain significance. | Millot GA | Human mutation | 2012 | PMID: 22753008 |
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). | Lindor NM | Human mutation | 2012 | PMID: 21990134 |
Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity. | Walker LC | Human mutation | 2010 | PMID: 20513136 |
Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications. | Tavtigian SV | Human mutation | 2008 | PMID: 18951461 |
Performance of BRCA1/2 mutation prediction models in Asian Americans. | Kurian AW | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2008 | PMID: 18779604 |
Unclassified variants identified in BRCA1 exon 11: Consequences on splicing. | Anczuków O | Genes, chromosomes & cancer | 2008 | PMID: 18273839 |
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. | Easton DF | American journal of human genetics | 2007 | PMID: 17924331 |
Natural selection and mammalian BRCA1 sequences: elucidating functionally important sites relevant to breast cancer susceptibility in humans. | Burk-Herrick A | Mammalian genome : official journal of the International Mammalian Genome Society | 2006 | PMID: 16518693 |
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. | Judkins T | Cancer research | 2005 | PMID: 16267036 |
The breast cancer information core: database design, structure, and scope. | Szabo C | Human mutation | 2000 | PMID: 10923033 |
Germline BRCA1 mutations in patients from 84 families with breast and/or ovarian cancers in northern France. | Peyrat JP | European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) | 1998 | PMID: 10866029 |
http://hci-exlovd.hci.utah.edu/variants.php?select_db=BRCA1&action=search_all&search_Variant%2FDNA=c.2584A%3EG | - | - | - | - |
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Text-mined citations for rs80356927 ...
HelpRecord last updated Jun 10, 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.