Variant allele predicted to encode a truncated non-functional protein.
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Pathogenic
Sep 2016 by
Evidence-based…
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)
Variation ID: 54657 Accession: VCV000054657.55
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43092809 (GRCh38) [ NCBI UCSC ] 17: 41244826 (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 Oct 20, 2024 Sep 8, 2016 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_007294.4:c.2722G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Glu908Ter nonsense NM_001407571.1:c.2509G>T NP_001394500.1:p.Glu837Ter nonsense NM_001407581.1:c.2722G>T NP_001394510.1:p.Glu908Ter nonsense NM_001407582.1:c.2722G>T NP_001394511.1:p.Glu908Ter nonsense NM_001407583.1:c.2722G>T NP_001394512.1:p.Glu908Ter nonsense NM_001407585.1:c.2722G>T NP_001394514.1:p.Glu908Ter nonsense NM_001407587.1:c.2719G>T NP_001394516.1:p.Glu907Ter nonsense NM_001407590.1:c.2719G>T NP_001394519.1:p.Glu907Ter nonsense NM_001407591.1:c.2719G>T NP_001394520.1:p.Glu907Ter nonsense NM_001407593.1:c.2722G>T NP_001394522.1:p.Glu908Ter nonsense NM_001407594.1:c.2722G>T NP_001394523.1:p.Glu908Ter nonsense NM_001407596.1:c.2722G>T NP_001394525.1:p.Glu908Ter nonsense NM_001407597.1:c.2722G>T NP_001394526.1:p.Glu908Ter nonsense NM_001407598.1:c.2722G>T NP_001394527.1:p.Glu908Ter nonsense NM_001407602.1:c.2722G>T NP_001394531.1:p.Glu908Ter nonsense NM_001407603.1:c.2722G>T NP_001394532.1:p.Glu908Ter nonsense NM_001407605.1:c.2722G>T NP_001394534.1:p.Glu908Ter nonsense NM_001407610.1:c.2719G>T NP_001394539.1:p.Glu907Ter nonsense NM_001407611.1:c.2719G>T NP_001394540.1:p.Glu907Ter nonsense NM_001407612.1:c.2719G>T NP_001394541.1:p.Glu907Ter nonsense NM_001407613.1:c.2719G>T NP_001394542.1:p.Glu907Ter nonsense NM_001407614.1:c.2719G>T NP_001394543.1:p.Glu907Ter nonsense NM_001407615.1:c.2719G>T NP_001394544.1:p.Glu907Ter nonsense NM_001407616.1:c.2722G>T NP_001394545.1:p.Glu908Ter nonsense NM_001407617.1:c.2722G>T NP_001394546.1:p.Glu908Ter nonsense NM_001407618.1:c.2722G>T NP_001394547.1:p.Glu908Ter nonsense NM_001407619.1:c.2722G>T NP_001394548.1:p.Glu908Ter nonsense NM_001407620.1:c.2722G>T NP_001394549.1:p.Glu908Ter nonsense NM_001407621.1:c.2722G>T NP_001394550.1:p.Glu908Ter nonsense NM_001407622.1:c.2722G>T NP_001394551.1:p.Glu908Ter nonsense NM_001407623.1:c.2722G>T NP_001394552.1:p.Glu908Ter nonsense NM_001407624.1:c.2722G>T NP_001394553.1:p.Glu908Ter nonsense NM_001407625.1:c.2722G>T NP_001394554.1:p.Glu908Ter nonsense NM_001407626.1:c.2722G>T NP_001394555.1:p.Glu908Ter nonsense NM_001407627.1:c.2719G>T NP_001394556.1:p.Glu907Ter nonsense NM_001407628.1:c.2719G>T NP_001394557.1:p.Glu907Ter nonsense NM_001407629.1:c.2719G>T NP_001394558.1:p.Glu907Ter nonsense NM_001407630.1:c.2719G>T NP_001394559.1:p.Glu907Ter nonsense NM_001407631.1:c.2719G>T NP_001394560.1:p.Glu907Ter nonsense NM_001407632.1:c.2719G>T NP_001394561.1:p.Glu907Ter nonsense NM_001407633.1:c.2719G>T NP_001394562.1:p.Glu907Ter nonsense NM_001407634.1:c.2719G>T NP_001394563.1:p.Glu907Ter nonsense NM_001407635.1:c.2719G>T NP_001394564.1:p.Glu907Ter nonsense NM_001407636.1:c.2719G>T NP_001394565.1:p.Glu907Ter nonsense NM_001407637.1:c.2719G>T NP_001394566.1:p.Glu907Ter nonsense NM_001407638.1:c.2719G>T NP_001394567.1:p.Glu907Ter nonsense NM_001407639.1:c.2722G>T NP_001394568.1:p.Glu908Ter nonsense NM_001407640.1:c.2722G>T NP_001394569.1:p.Glu908Ter nonsense NM_001407641.1:c.2722G>T NP_001394570.1:p.Glu908Ter nonsense NM_001407642.1:c.2722G>T NP_001394571.1:p.Glu908Ter nonsense NM_001407644.1:c.2719G>T NP_001394573.1:p.Glu907Ter nonsense NM_001407645.1:c.2719G>T NP_001394574.1:p.Glu907Ter nonsense NM_001407646.1:c.2713G>T NP_001394575.1:p.Glu905Ter nonsense NM_001407647.1:c.2713G>T NP_001394576.1:p.Glu905Ter nonsense NM_001407648.1:c.2599G>T NP_001394577.1:p.Glu867Ter nonsense NM_001407649.1:c.2596G>T NP_001394578.1:p.Glu866Ter nonsense NM_001407652.1:c.2722G>T NP_001394581.1:p.Glu908Ter nonsense NM_001407653.1:c.2644G>T NP_001394582.1:p.Glu882Ter nonsense NM_001407654.1:c.2644G>T NP_001394583.1:p.Glu882Ter nonsense NM_001407655.1:c.2644G>T NP_001394584.1:p.Glu882Ter nonsense NM_001407656.1:c.2644G>T NP_001394585.1:p.Glu882Ter nonsense NM_001407657.1:c.2644G>T NP_001394586.1:p.Glu882Ter nonsense NM_001407658.1:c.2644G>T NP_001394587.1:p.Glu882Ter nonsense NM_001407659.1:c.2641G>T NP_001394588.1:p.Glu881Ter nonsense NM_001407660.1:c.2641G>T NP_001394589.1:p.Glu881Ter nonsense NM_001407661.1:c.2641G>T NP_001394590.1:p.Glu881Ter nonsense NM_001407662.1:c.2641G>T NP_001394591.1:p.Glu881Ter nonsense NM_001407663.1:c.2644G>T NP_001394592.1:p.Glu882Ter nonsense NM_001407664.1:c.2599G>T NP_001394593.1:p.Glu867Ter nonsense NM_001407665.1:c.2599G>T NP_001394594.1:p.Glu867Ter nonsense NM_001407666.1:c.2599G>T NP_001394595.1:p.Glu867Ter nonsense NM_001407667.1:c.2599G>T NP_001394596.1:p.Glu867Ter nonsense NM_001407668.1:c.2599G>T NP_001394597.1:p.Glu867Ter nonsense NM_001407669.1:c.2599G>T NP_001394598.1:p.Glu867Ter nonsense NM_001407670.1:c.2596G>T NP_001394599.1:p.Glu866Ter nonsense NM_001407671.1:c.2596G>T NP_001394600.1:p.Glu866Ter nonsense NM_001407672.1:c.2596G>T NP_001394601.1:p.Glu866Ter nonsense NM_001407673.1:c.2596G>T NP_001394602.1:p.Glu866Ter nonsense NM_001407674.1:c.2599G>T NP_001394603.1:p.Glu867Ter nonsense NM_001407675.1:c.2599G>T NP_001394604.1:p.Glu867Ter nonsense NM_001407676.1:c.2599G>T NP_001394605.1:p.Glu867Ter nonsense NM_001407677.1:c.2599G>T NP_001394606.1:p.Glu867Ter nonsense NM_001407678.1:c.2599G>T NP_001394607.1:p.Glu867Ter nonsense NM_001407679.1:c.2599G>T NP_001394608.1:p.Glu867Ter nonsense NM_001407680.1:c.2599G>T NP_001394609.1:p.Glu867Ter nonsense NM_001407681.1:c.2599G>T NP_001394610.1:p.Glu867Ter nonsense NM_001407682.1:c.2599G>T NP_001394611.1:p.Glu867Ter nonsense NM_001407683.1:c.2599G>T NP_001394612.1:p.Glu867Ter nonsense NM_001407684.1:c.2722G>T NP_001394613.1:p.Glu908Ter nonsense NM_001407685.1:c.2596G>T NP_001394614.1:p.Glu866Ter nonsense NM_001407686.1:c.2596G>T NP_001394615.1:p.Glu866Ter nonsense NM_001407687.1:c.2596G>T NP_001394616.1:p.Glu866Ter nonsense NM_001407688.1:c.2596G>T NP_001394617.1:p.Glu866Ter nonsense NM_001407689.1:c.2596G>T NP_001394618.1:p.Glu866Ter nonsense NM_001407690.1:c.2596G>T NP_001394619.1:p.Glu866Ter nonsense NM_001407691.1:c.2596G>T NP_001394620.1:p.Glu866Ter nonsense NM_001407692.1:c.2581G>T NP_001394621.1:p.Glu861Ter nonsense NM_001407694.1:c.2581G>T NP_001394623.1:p.Glu861Ter nonsense NM_001407695.1:c.2581G>T NP_001394624.1:p.Glu861Ter nonsense NM_001407696.1:c.2581G>T NP_001394625.1:p.Glu861Ter nonsense NM_001407697.1:c.2581G>T NP_001394626.1:p.Glu861Ter nonsense NM_001407698.1:c.2581G>T NP_001394627.1:p.Glu861Ter nonsense NM_001407724.1:c.2581G>T NP_001394653.1:p.Glu861Ter nonsense NM_001407725.1:c.2581G>T NP_001394654.1:p.Glu861Ter nonsense NM_001407726.1:c.2581G>T NP_001394655.1:p.Glu861Ter nonsense NM_001407727.1:c.2581G>T NP_001394656.1:p.Glu861Ter nonsense NM_001407728.1:c.2581G>T NP_001394657.1:p.Glu861Ter nonsense NM_001407729.1:c.2581G>T NP_001394658.1:p.Glu861Ter nonsense NM_001407730.1:c.2581G>T NP_001394659.1:p.Glu861Ter nonsense NM_001407731.1:c.2581G>T NP_001394660.1:p.Glu861Ter nonsense NM_001407732.1:c.2581G>T NP_001394661.1:p.Glu861Ter nonsense NM_001407733.1:c.2581G>T NP_001394662.1:p.Glu861Ter nonsense NM_001407734.1:c.2581G>T NP_001394663.1:p.Glu861Ter nonsense NM_001407735.1:c.2581G>T NP_001394664.1:p.Glu861Ter nonsense NM_001407736.1:c.2581G>T NP_001394665.1:p.Glu861Ter nonsense NM_001407737.1:c.2581G>T NP_001394666.1:p.Glu861Ter nonsense NM_001407738.1:c.2581G>T NP_001394667.1:p.Glu861Ter nonsense NM_001407739.1:c.2581G>T NP_001394668.1:p.Glu861Ter nonsense NM_001407740.1:c.2578G>T NP_001394669.1:p.Glu860Ter nonsense NM_001407741.1:c.2578G>T NP_001394670.1:p.Glu860Ter nonsense NM_001407742.1:c.2578G>T NP_001394671.1:p.Glu860Ter nonsense NM_001407743.1:c.2578G>T NP_001394672.1:p.Glu860Ter nonsense NM_001407744.1:c.2578G>T NP_001394673.1:p.Glu860Ter nonsense NM_001407745.1:c.2578G>T NP_001394674.1:p.Glu860Ter nonsense NM_001407746.1:c.2578G>T NP_001394675.1:p.Glu860Ter nonsense NM_001407747.1:c.2578G>T NP_001394676.1:p.Glu860Ter nonsense NM_001407748.1:c.2578G>T NP_001394677.1:p.Glu860Ter nonsense NM_001407749.1:c.2578G>T NP_001394678.1:p.Glu860Ter nonsense NM_001407750.1:c.2581G>T NP_001394679.1:p.Glu861Ter nonsense NM_001407751.1:c.2581G>T NP_001394680.1:p.Glu861Ter nonsense NM_001407752.1:c.2581G>T NP_001394681.1:p.Glu861Ter nonsense NM_001407838.1:c.2578G>T NP_001394767.1:p.Glu860Ter nonsense NM_001407839.1:c.2578G>T NP_001394768.1:p.Glu860Ter nonsense NM_001407841.1:c.2578G>T NP_001394770.1:p.Glu860Ter nonsense NM_001407842.1:c.2578G>T NP_001394771.1:p.Glu860Ter nonsense NM_001407843.1:c.2578G>T NP_001394772.1:p.Glu860Ter nonsense NM_001407844.1:c.2578G>T NP_001394773.1:p.Glu860Ter nonsense NM_001407845.1:c.2578G>T NP_001394774.1:p.Glu860Ter nonsense NM_001407846.1:c.2578G>T NP_001394775.1:p.Glu860Ter nonsense NM_001407847.1:c.2578G>T NP_001394776.1:p.Glu860Ter nonsense NM_001407848.1:c.2578G>T NP_001394777.1:p.Glu860Ter nonsense NM_001407849.1:c.2578G>T NP_001394778.1:p.Glu860Ter nonsense NM_001407850.1:c.2581G>T NP_001394779.1:p.Glu861Ter nonsense NM_001407851.1:c.2581G>T NP_001394780.1:p.Glu861Ter nonsense NM_001407852.1:c.2581G>T NP_001394781.1:p.Glu861Ter nonsense NM_001407853.1:c.2509G>T NP_001394782.1:p.Glu837Ter nonsense NM_001407854.1:c.2722G>T NP_001394783.1:p.Glu908Ter nonsense NM_001407858.1:c.2722G>T NP_001394787.1:p.Glu908Ter nonsense NM_001407859.1:c.2722G>T NP_001394788.1:p.Glu908Ter nonsense NM_001407860.1:c.2719G>T NP_001394789.1:p.Glu907Ter nonsense NM_001407861.1:c.2719G>T NP_001394790.1:p.Glu907Ter nonsense NM_001407862.1:c.2521G>T NP_001394791.1:p.Glu841Ter nonsense NM_001407863.1:c.2599G>T NP_001394792.1:p.Glu867Ter nonsense NM_001407874.1:c.2518G>T NP_001394803.1:p.Glu840Ter nonsense NM_001407875.1:c.2518G>T NP_001394804.1:p.Glu840Ter nonsense NM_001407879.1:c.2512G>T NP_001394808.1:p.Glu838Ter nonsense NM_001407881.1:c.2512G>T NP_001394810.1:p.Glu838Ter nonsense NM_001407882.1:c.2512G>T NP_001394811.1:p.Glu838Ter nonsense NM_001407884.1:c.2512G>T NP_001394813.1:p.Glu838Ter nonsense NM_001407885.1:c.2512G>T NP_001394814.1:p.Glu838Ter nonsense NM_001407886.1:c.2512G>T NP_001394815.1:p.Glu838Ter nonsense NM_001407887.1:c.2512G>T NP_001394816.1:p.Glu838Ter nonsense NM_001407889.1:c.2512G>T NP_001394818.1:p.Glu838Ter nonsense NM_001407894.1:c.2509G>T NP_001394823.1:p.Glu837Ter nonsense NM_001407895.1:c.2509G>T NP_001394824.1:p.Glu837Ter nonsense NM_001407896.1:c.2509G>T NP_001394825.1:p.Glu837Ter nonsense NM_001407897.1:c.2509G>T NP_001394826.1:p.Glu837Ter nonsense NM_001407898.1:c.2509G>T NP_001394827.1:p.Glu837Ter nonsense NM_001407899.1:c.2509G>T NP_001394828.1:p.Glu837Ter nonsense NM_001407900.1:c.2512G>T NP_001394829.1:p.Glu838Ter nonsense NM_001407902.1:c.2512G>T NP_001394831.1:p.Glu838Ter nonsense NM_001407904.1:c.2512G>T NP_001394833.1:p.Glu838Ter nonsense NM_001407906.1:c.2512G>T NP_001394835.1:p.Glu838Ter nonsense NM_001407907.1:c.2512G>T NP_001394836.1:p.Glu838Ter nonsense NM_001407908.1:c.2512G>T NP_001394837.1:p.Glu838Ter nonsense NM_001407909.1:c.2512G>T NP_001394838.1:p.Glu838Ter nonsense NM_001407910.1:c.2512G>T NP_001394839.1:p.Glu838Ter nonsense NM_001407915.1:c.2509G>T NP_001394844.1:p.Glu837Ter nonsense NM_001407916.1:c.2509G>T NP_001394845.1:p.Glu837Ter nonsense NM_001407917.1:c.2509G>T NP_001394846.1:p.Glu837Ter nonsense NM_001407918.1:c.2509G>T NP_001394847.1:p.Glu837Ter nonsense NM_001407919.1:c.2599G>T NP_001394848.1:p.Glu867Ter nonsense NM_001407920.1:c.2458G>T NP_001394849.1:p.Glu820Ter nonsense NM_001407921.1:c.2458G>T NP_001394850.1:p.Glu820Ter nonsense NM_001407922.1:c.2458G>T NP_001394851.1:p.Glu820Ter nonsense NM_001407923.1:c.2458G>T NP_001394852.1:p.Glu820Ter nonsense NM_001407924.1:c.2458G>T NP_001394853.1:p.Glu820Ter nonsense NM_001407925.1:c.2458G>T NP_001394854.1:p.Glu820Ter nonsense NM_001407926.1:c.2458G>T NP_001394855.1:p.Glu820Ter nonsense NM_001407927.1:c.2458G>T NP_001394856.1:p.Glu820Ter nonsense NM_001407928.1:c.2458G>T NP_001394857.1:p.Glu820Ter nonsense NM_001407929.1:c.2458G>T NP_001394858.1:p.Glu820Ter nonsense NM_001407930.1:c.2455G>T NP_001394859.1:p.Glu819Ter nonsense NM_001407931.1:c.2455G>T NP_001394860.1:p.Glu819Ter nonsense NM_001407932.1:c.2455G>T NP_001394861.1:p.Glu819Ter nonsense NM_001407933.1:c.2458G>T NP_001394862.1:p.Glu820Ter nonsense NM_001407934.1:c.2455G>T NP_001394863.1:p.Glu819Ter nonsense NM_001407935.1:c.2458G>T NP_001394864.1:p.Glu820Ter nonsense NM_001407936.1:c.2455G>T NP_001394865.1:p.Glu819Ter nonsense NM_001407937.1:c.2599G>T NP_001394866.1:p.Glu867Ter nonsense NM_001407938.1:c.2599G>T NP_001394867.1:p.Glu867Ter nonsense NM_001407939.1:c.2599G>T NP_001394868.1:p.Glu867Ter nonsense NM_001407940.1:c.2596G>T NP_001394869.1:p.Glu866Ter nonsense NM_001407941.1:c.2596G>T NP_001394870.1:p.Glu866Ter nonsense NM_001407942.1:c.2581G>T NP_001394871.1:p.Glu861Ter nonsense NM_001407943.1:c.2578G>T NP_001394872.1:p.Glu860Ter nonsense NM_001407944.1:c.2581G>T NP_001394873.1:p.Glu861Ter nonsense NM_001407945.1:c.2581G>T NP_001394874.1:p.Glu861Ter nonsense NM_001407946.1:c.2389G>T NP_001394875.1:p.Glu797Ter nonsense NM_001407947.1:c.2389G>T NP_001394876.1:p.Glu797Ter nonsense NM_001407948.1:c.2389G>T NP_001394877.1:p.Glu797Ter nonsense NM_001407949.1:c.2389G>T NP_001394878.1:p.Glu797Ter nonsense NM_001407950.1:c.2389G>T NP_001394879.1:p.Glu797Ter nonsense NM_001407951.1:c.2389G>T NP_001394880.1:p.Glu797Ter nonsense NM_001407952.1:c.2389G>T NP_001394881.1:p.Glu797Ter nonsense NM_001407953.1:c.2389G>T NP_001394882.1:p.Glu797Ter nonsense NM_001407954.1:c.2386G>T NP_001394883.1:p.Glu796Ter nonsense NM_001407955.1:c.2386G>T NP_001394884.1:p.Glu796Ter nonsense NM_001407956.1:c.2386G>T NP_001394885.1:p.Glu796Ter nonsense NM_001407957.1:c.2389G>T NP_001394886.1:p.Glu797Ter nonsense NM_001407958.1:c.2386G>T NP_001394887.1:p.Glu796Ter nonsense NM_001407959.1:c.2341G>T NP_001394888.1:p.Glu781Ter nonsense NM_001407960.1:c.2341G>T NP_001394889.1:p.Glu781Ter nonsense NM_001407962.1:c.2338G>T NP_001394891.1:p.Glu780Ter nonsense NM_001407963.1:c.2341G>T NP_001394892.1:p.Glu781Ter nonsense NM_001407964.1:c.2578G>T NP_001394893.1:p.Glu860Ter nonsense NM_001407965.1:c.2218G>T NP_001394894.1:p.Glu740Ter nonsense NM_001407966.1:c.1834G>T NP_001394895.1:p.Glu612Ter nonsense NM_001407967.1:c.1834G>T NP_001394896.1:p.Glu612Ter nonsense NM_001407968.1:c.788-670G>T intron variant NM_001407969.1:c.788-670G>T intron variant NM_001407970.1:c.788-1777G>T intron variant NM_001407971.1:c.788-1777G>T intron variant NM_001407972.1:c.785-1777G>T intron variant NM_001407973.1:c.788-1777G>T intron variant NM_001407974.1:c.788-1777G>T intron variant NM_001407975.1:c.788-1777G>T intron variant NM_001407976.1:c.788-1777G>T intron variant NM_001407977.1:c.788-1777G>T intron variant NM_001407978.1:c.788-1777G>T intron variant NM_001407979.1:c.788-1777G>T intron variant NM_001407980.1:c.788-1777G>T intron variant NM_001407981.1:c.788-1777G>T intron variant NM_001407982.1:c.788-1777G>T intron variant NM_001407983.1:c.788-1777G>T intron variant NM_001407984.1:c.785-1777G>T intron variant NM_001407985.1:c.785-1777G>T intron variant NM_001407986.1:c.785-1777G>T intron variant NM_001407990.1:c.788-1777G>T intron variant NM_001407991.1:c.785-1777G>T intron variant NM_001407992.1:c.785-1777G>T intron variant NM_001407993.1:c.788-1777G>T intron variant NM_001408392.1:c.785-1777G>T intron variant NM_001408396.1:c.785-1777G>T intron variant NM_001408397.1:c.785-1777G>T intron variant NM_001408398.1:c.785-1777G>T intron variant NM_001408399.1:c.785-1777G>T intron variant NM_001408400.1:c.785-1777G>T intron variant NM_001408401.1:c.785-1777G>T intron variant NM_001408402.1:c.785-1777G>T intron variant NM_001408403.1:c.788-1777G>T intron variant NM_001408404.1:c.788-1777G>T intron variant NM_001408406.1:c.791-1786G>T intron variant NM_001408407.1:c.785-1777G>T intron variant NM_001408408.1:c.779-1777G>T intron variant NM_001408409.1:c.710-1777G>T intron variant NM_001408410.1:c.647-1777G>T intron variant NM_001408411.1:c.710-1777G>T intron variant NM_001408412.1:c.710-1777G>T intron variant NM_001408413.1:c.707-1777G>T intron variant NM_001408414.1:c.710-1777G>T intron variant NM_001408415.1:c.710-1777G>T intron variant NM_001408416.1:c.707-1777G>T intron variant NM_001408418.1:c.671-1777G>T intron variant NM_001408419.1:c.671-1777G>T intron variant NM_001408420.1:c.671-1777G>T intron variant NM_001408421.1:c.668-1777G>T intron variant NM_001408422.1:c.671-1777G>T intron variant NM_001408423.1:c.671-1777G>T intron variant NM_001408424.1:c.668-1777G>T intron variant NM_001408425.1:c.665-1777G>T intron variant NM_001408426.1:c.665-1777G>T intron variant NM_001408427.1:c.665-1777G>T intron variant NM_001408428.1:c.665-1777G>T intron variant NM_001408429.1:c.665-1777G>T intron variant NM_001408430.1:c.665-1777G>T intron variant NM_001408431.1:c.668-1777G>T intron variant NM_001408432.1:c.662-1777G>T intron variant NM_001408433.1:c.662-1777G>T intron variant NM_001408434.1:c.662-1777G>T intron variant NM_001408435.1:c.662-1777G>T intron variant NM_001408436.1:c.665-1777G>T intron variant NM_001408437.1:c.665-1777G>T intron variant NM_001408438.1:c.665-1777G>T intron variant NM_001408439.1:c.665-1777G>T intron variant NM_001408440.1:c.665-1777G>T intron variant NM_001408441.1:c.665-1777G>T intron variant NM_001408442.1:c.665-1777G>T intron variant NM_001408443.1:c.665-1777G>T intron variant NM_001408444.1:c.665-1777G>T intron variant NM_001408445.1:c.662-1777G>T intron variant NM_001408446.1:c.662-1777G>T intron variant NM_001408447.1:c.662-1777G>T intron variant NM_001408448.1:c.662-1777G>T intron variant NM_001408450.1:c.662-1777G>T intron variant NM_001408451.1:c.653-1777G>T intron variant NM_001408452.1:c.647-1777G>T intron variant NM_001408453.1:c.647-1777G>T intron variant NM_001408454.1:c.647-1777G>T intron variant NM_001408455.1:c.647-1777G>T intron variant NM_001408456.1:c.647-1777G>T intron variant NM_001408457.1:c.647-1777G>T intron variant NM_001408458.1:c.647-1777G>T intron variant NM_001408459.1:c.647-1777G>T intron variant NM_001408460.1:c.647-1777G>T intron variant NM_001408461.1:c.647-1777G>T intron variant NM_001408462.1:c.644-1777G>T intron variant NM_001408463.1:c.644-1777G>T intron variant NM_001408464.1:c.644-1777G>T intron variant NM_001408465.1:c.644-1777G>T intron variant NM_001408466.1:c.647-1777G>T intron variant NM_001408467.1:c.647-1777G>T intron variant NM_001408468.1:c.644-1777G>T intron variant NM_001408469.1:c.647-1777G>T intron variant NM_001408470.1:c.644-1777G>T intron variant NM_001408472.1:c.788-1777G>T intron variant NM_001408473.1:c.785-1777G>T intron variant NM_001408474.1:c.587-1777G>T intron variant NM_001408475.1:c.584-1777G>T intron variant NM_001408476.1:c.587-1777G>T intron variant NM_001408478.1:c.578-1777G>T intron variant NM_001408479.1:c.578-1777G>T intron variant NM_001408480.1:c.578-1777G>T intron variant NM_001408481.1:c.578-1777G>T intron variant NM_001408482.1:c.578-1777G>T intron variant NM_001408483.1:c.578-1777G>T intron variant NM_001408484.1:c.578-1777G>T intron variant NM_001408485.1:c.578-1777G>T intron variant NM_001408489.1:c.578-1777G>T intron variant NM_001408490.1:c.575-1777G>T intron variant NM_001408491.1:c.575-1777G>T intron variant NM_001408492.1:c.578-1777G>T intron variant NM_001408493.1:c.575-1777G>T intron variant NM_001408494.1:c.548-1777G>T intron variant NM_001408495.1:c.545-1777G>T intron variant NM_001408496.1:c.524-1777G>T intron variant NM_001408497.1:c.524-1777G>T intron variant NM_001408498.1:c.524-1777G>T intron variant NM_001408499.1:c.524-1777G>T intron variant NM_001408500.1:c.524-1777G>T intron variant NM_001408501.1:c.524-1777G>T intron variant NM_001408502.1:c.455-1777G>T intron variant NM_001408503.1:c.521-1777G>T intron variant NM_001408504.1:c.521-1777G>T intron variant NM_001408505.1:c.521-1777G>T intron variant NM_001408506.1:c.461-1777G>T intron variant NM_001408507.1:c.461-1777G>T intron variant NM_001408508.1:c.452-1777G>T intron variant NM_001408509.1:c.452-1777G>T intron variant NM_001408510.1:c.407-1777G>T intron variant NM_001408511.1:c.404-1777G>T intron variant NM_001408512.1:c.284-1777G>T intron variant NM_001408513.1:c.578-1777G>T intron variant NM_001408514.1:c.578-1777G>T intron variant NM_007297.4:c.2581G>T NP_009228.2:p.Glu861Ter nonsense NM_007298.4:c.788-1777G>T intron variant NM_007299.4:c.788-1777G>T intron variant NM_007300.4:c.2722G>T NP_009231.2:p.Glu908Ter nonsense NR_027676.1:n.2858G>T NC_000017.11:g.43092809C>A NC_000017.10:g.41244826C>A NG_005905.2:g.125175G>T LRG_292:g.125175G>T LRG_292t1:c.2722G>T LRG_292p1:p.Glu908Ter U14680.1:n.2841G>T - Protein change
- E908*, E861*, E740*, E781*, E837*, E840*, E907*, E796*, E819*, E820*, E866*, E867*, E882*, E905*, E780*, E797*, E841*, E860*, E612*, E838*, E881*
- Other names
-
p.E908*:GAA>TAA
2841G>T
- Canonical SPDI
- NC_000017.11:43092808:C:A
-
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.
-
Trans-Omics for Precision Medicine (TOPMed) 0.00000
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
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. |
|---|---|---|---|---|
| Pathogenic (4) |
criteria provided, multiple submitters, no conflicts
|
Jan 4, 2024 | RCV000047943.29 | |
| Pathogenic (9) |
criteria provided, multiple submitters, no conflicts
|
Jul 5, 2023 | RCV000074576.46 | |
| Pathogenic (12) |
reviewed by expert panel
|
Sep 8, 2016 | RCV000077527.25 | |
| Pathogenic (1) |
no assertion criteria provided
|
Jun 1, 2014 | RCV000148387.11 | |
| Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Feb 8, 2023 | RCV000131878.20 | |
| Pathogenic (1) |
no assertion criteria provided
|
Oct 1, 2001 | RCV000735484.9 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Oct 31, 2018 | RCV000763005.10 |
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. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Sep 08, 2016)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000299819.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
|
Pathogenic
(Oct 08, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
Study: VKGL Data-share Consensus
Accession: SCV000743410.1 First in ClinVar: Apr 19, 2018 Last updated: Apr 19, 2018 |
|
|
|
Pathogenic
(Sep 21, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000744648.1 First in ClinVar: Apr 19, 2018 Last updated: Apr 19, 2018 |
|
|
|
Pathogenic
(Oct 24, 2017)
|
criteria provided, single submitter
Method: research
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
Study: AGHI-GT-HudsonAlpha
Accession: SCV000778595.1 First in ClinVar: Apr 19, 2018 Last updated: Apr 19, 2018 |
Number of individuals with the variant: 1
|
|
|
Pathogenic
(Oct 04, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
(Autosomal dominant inheritance)
Affected status: not provided
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000605746.2
First in ClinVar: Aug 27, 2017 Last updated: Dec 26, 2017 |
Comment:
The p.Glu908X variant in BRCA1 has been reported in >60 individuals with BRCA1-a ssociated cancers (Serova 1996, Couch 2015, Boukerroucha 2015, Breast Cancer Inf ormation … (more)
The p.Glu908X variant in BRCA1 has been reported in >60 individuals with BRCA1-a ssociated cancers (Serova 1996, Couch 2015, Boukerroucha 2015, Breast Cancer Inf ormation Core (BIC), Sharing Clinical Reports Project). This variant has been id entified in 1/8600 European chromosomes by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS/; dbSNP rs80356978). This nonsense variant leads to a premature termination codon at position 908, which is predicted to lead to a truncated or absent protein. Heterozygous loss of function of the BRCA1 gene is an established disease mechanism in individuals with hereditary breast and ov arian cancer (HBOC). In addition, this variant was classified as Pathogenic on S eptember 8, 2016 by the ClinGen-approved ENIGMA expert panel (ClinVar SCV0002998 19.2). In summary, this variant meets our criteria to be classified as pathogeni c for HBOC in an autosomal dominant manner. (less)
Number of individuals with the variant: 3
|
|
|
Pathogenic
(Jan 01, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
GeneKor MSA
Accession: SCV000296768.3
First in ClinVar: Jul 31, 2016 Last updated: May 04, 2020 |
Comment:
This is a single base substitution, replacing the Glutamate at position 908 of the BRCA1 protein by a Termination codon. It is expected to result … (more)
This is a single base substitution, replacing the Glutamate at position 908 of the BRCA1 protein by a Termination codon. It is expected to result in an absent or disrupted protein product. Truncating variants in BRCA1 are known to be pathogenic. The mutation database ClinVar contains entries for this variant (Variation ID: 54657). (less)
|
|
|
Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325447.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
|
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Pathogenic
(Aug 15, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000494392.2
First in ClinVar: Jul 01, 2016 Last updated: Dec 11, 2022 |
Comment:
Variant summary: The BRCA1 c.2722G>T (p.Glu908X) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense … (more)
Variant summary: The BRCA1 c.2722G>T (p.Glu908X) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. If a stable protein is made, Glu908X is predicted to eliminate the BRCT domain. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. p.Val923fsX76, p.Asp936fsX63, etc.). One in silico tool predicts a damaging outcome for this variant. This variant was found in 1/121362 control chromosomes at a frequency of 0.0000082, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). The variant was cited in multiple HBOC patients in the literature and was shown to co-segregate with disease. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. (less)
|
|
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Pathogenic
(Jan 27, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000488226.2
First in ClinVar: Nov 05, 2016 Last updated: Dec 24, 2022 |
|
|
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Pathogenic
(Aug 25, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000108661.14
First in ClinVar: Dec 10, 2013 Last updated: Mar 04, 2023 |
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed … (more)
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed in individuals with a personal or family history consistent with pathogenic variants in this gene (Serova 1996, Sugano 2008, Boukerroucha 2015, Conroy 2017); Not observed in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 2841G>T; This variant is associated with the following publications: (PMID: 26010302, 25722380, 28152038, 22006311, 8554067, 22009639, 24055113, 25880076, 25637381, 10553024, 9150151, 19016756, 25452441, 18465347, 16615107, 20104584, 19949876, 14574155, 9465809, 16528604, 9667259, 12393792, 25504618, 24549055, 27767231, 28959512, 29907814, 29470806, 28724667, 30702160, 29446198, 28176296, 25525159, 31825140, 31742824, 11597388) (less)
|
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Pathogenic
(Sep 24, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004212756.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
|
|
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Pathogenic
(Jan 04, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000075956.14
First in ClinVar: Jul 03, 2013 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Glu908*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Glu908*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast and ovarian cancer and glioblastoma (PMID: 8554067, 19016756, 19949876, 25880076). This variant is also known as 2841G>T. ClinVar contains an entry for this variant (Variation ID: 54657). For these reasons, this variant has been classified as Pathogenic. (less)
|
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Pathogenic
(Feb 08, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000537660.5
First in ClinVar: Sep 24, 2016 Last updated: Feb 14, 2024 |
Comment:
This variant changes 1 nucleotide in exon 10 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in … (more)
This variant changes 1 nucleotide in exon 10 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in multiple individuals affected with breast cancer, ovarian cancer and glioblastoma (PMID: 19016756, 22006311, 25880076, 26010302, 29470806, 32380732, 33471991, 35625946). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
|
|
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Pathogenic
(May 09, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000186933.8
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
The p.E908* pathogenic mutation (also known as c.2722G>T), located in coding exon 9 of the BRCA1 gene, results from a G to T substitution at … (more)
The p.E908* pathogenic mutation (also known as c.2722G>T), located in coding exon 9 of the BRCA1 gene, results from a G to T substitution at nucleotide position 2722. This changes the amino acid from a glutamic acid to a stop codon within coding exon 9. This mutation has been reported in multiple breast and ovarian cancer (HBOC) syndrome kindreds to date (Serova O et al. Am. J. Hum. Genet. 1996 Jan;58:42-51; Walsh T et al. Proc. Natl. Acad. Sci. USA. 2011 Nov;108:18032-7; Boukerroucha M et al. BMC Cancer. 2015 Mar;15:181; De Brakeleer S et al. Clin. Genet.. 2016 Mar;89:336-40; Singh J et al. Breast Cancer Res. Treat. 2018 Jul;170(1):189-196). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
|
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Pathogenic
(Jul 05, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics Laboratory, Skane University Hospital Lund
Accession: SCV005199735.1
First in ClinVar: Aug 25, 2024 Last updated: Aug 25, 2024 |
|
|
|
Pathogenic
(Oct 31, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV000893450.1
First in ClinVar: Mar 31, 2019 Last updated: Mar 31, 2019 |
|
|
|
Pathogenic
(Feb 01, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Familial breast-ovarian cancer 1
Affected status: unknown
Allele origin:
germline
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
Accession: SCV001434970.1
First in ClinVar: Oct 03, 2020 Last updated: Oct 03, 2020 |
Comment:
The c.2722G>T (p.Glu908*) variant in the BRCA1 gene is predicted to introduce a premature translation termination codon. This variant has been reported in multiple individuals … (more)
The c.2722G>T (p.Glu908*) variant in the BRCA1 gene is predicted to introduce a premature translation termination codon. This variant has been reported in multiple individuals affected with breast or ovarian cancer (PMID 8554067, 19016756, 19949876, 22006311, 22009639, 25880076). This variant is not observed in gnomAD database. Therefore, the c.1953_1956delGAAA (p.Lys653Serfs*47) variant in the BRCA1 gene is classified as pathogenic. (less)
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|
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Pathogenic
(Oct 23, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
(Unknown mechanism)
Affected status: yes
Allele origin:
germline
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001448152.1
First in ClinVar: Nov 28, 2020 Last updated: Nov 28, 2020 |
Clinical Features:
Ovarian neoplasm (present)
Sex: female
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|
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Pathogenic
(Apr 13, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000296333.5
First in ClinVar: Sep 27, 2014 Last updated: Jan 06, 2024 |
Comment:
This nonsense variant causes the premature termination of BRCA1 protein synthesis. This variant has been reported in the published literature in individuals and families affected … (more)
This nonsense variant causes the premature termination of BRCA1 protein synthesis. This variant has been reported in the published literature in individuals and families affected with breast/ovarian cancer (PMIDs: 12393792 (2002), 12068003 (2002), 29470806 (2018), 29907814 (2018), 32380732 (2020)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic. (less)
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Pathogenic
(Jul 13, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Revvity Omics, Revvity
Accession: SCV002017862.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
|
|
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Pathogenic
(Nov 20, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
All of Us Research Program, National Institutes of Health
Accession: SCV004815659.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
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Comment:
This variant changes 1 nucleotide in exon 10 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in … (more)
This variant changes 1 nucleotide in exon 10 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in multiple individuals affected with breast cancer, ovarian cancer and glioblastoma (PMID: 19016756, 22006311, 25880076, 26010302, 29470806, 32380732, 33471991, 35625946). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
Number of individuals with the variant: 4
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Pathogenic
(Dec 01, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV002563415.16
First in ClinVar: Aug 23, 2022 Last updated: Oct 20, 2024 |
Number of individuals with the variant: 1
|
|
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Pathogenic
(Jun 01, 2014)
|
no assertion criteria provided
Method: research
|
Breast cancer
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
CSER _CC_NCGL, University of Washington
Study: ESP 6500 variant annotation
Accession: SCV000190085.1 First in ClinVar: Dec 06, 2014 Last updated: Dec 06, 2014
Comment:
Variants classified for the Actionable exomic incidental findings in 6503 participants: challenges of variant classification manuscript
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Pathogenic
(May 02, 2012)
|
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: SCV000109328.5
First in ClinVar: Dec 23, 2013 Last updated: Sep 27, 2014 |
|
|
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Pathogenic
(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: SCV000144522.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 21
Observation 2:
Number of individuals with the variant: 1
Geographic origin: Central/Eastern European
Observation 3:
Number of individuals with the variant: 4
Geographic origin: Netherlands
Observation 4:
Number of individuals with the variant: 1
Geographic origin: Native American, Central/Eastern European
Observation 5:
Number of individuals with the variant: 2
Geographic origin: Western European
Observation 6:
Number of individuals with the variant: 2
Ethnicity/Population group: Caucasian
Geographic origin: Netherlands
Observation 7:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: English
Observation 8:
Number of individuals with the variant: 1
Ethnicity/Population group: Caucasian
Geographic origin: Germany
Observation 9:
Number of individuals with the variant: 1
Ethnicity/Population group: English, German, Pennsylvanian Dutch
Observation 10:
Number of individuals with the variant: 1
Ethnicity/Population group: German
Observation 11:
Number of individuals with the variant: 1
Ethnicity/Population group: Scottish, Irish, English
Observation 12:
Number of individuals with the variant: 1
Ethnicity/Population group: Sicilian
Observation 13:
Number of individuals with the variant: 24
Ethnicity/Population group: Western European
Observation 14:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European, English, Irish, French
|
|
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Pathogenic
(Jan 31, 2014)
|
no assertion criteria provided
Method: research
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587250.1 First in ClinVar: Aug 05, 2017 Last updated: Aug 05, 2017 |
|
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000733636.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
|
|
|
Pathogenic
(Oct 01, 2001)
|
no assertion criteria provided
Method: clinical testing
|
Breast and/or ovarian cancer
Affected status: unknown
Allele origin:
germline
|
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000863621.1 First in ClinVar: Dec 24, 2018 Last updated: Dec 24, 2018 |
|
|
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Uncertain significance
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000591407.2 First in ClinVar: Aug 27, 2017 Last updated: Apr 13, 2021 |
|
|
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Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
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: SCV001956036.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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Comment:
Comment:
The p.Glu908X variant in BRCA1 has been reported in >60 individuals with BRCA1-a ssociated cancers (Serova 1996, Couch 2015, Boukerroucha 2015, Breast Cancer Inf ormation Core (BIC), Sharing Clinical Reports Project). This variant has been id entified in 1/8600 European chromosomes by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS/; dbSNP rs80356978). This nonsense variant leads to a premature termination codon at position 908, which is predicted to lead to a truncated or absent protein. Heterozygous loss of function of the BRCA1 gene is an established disease mechanism in individuals with hereditary breast and ov arian cancer (HBOC). In addition, this variant was classified as Pathogenic on S eptember 8, 2016 by the ClinGen-approved ENIGMA expert panel (ClinVar SCV0002998 19.2). In summary, this variant meets our criteria to be classified as pathogeni c for HBOC in an autosomal dominant manner.
Comment:
This is a single base substitution, replacing the Glutamate at position 908 of the BRCA1 protein by a Termination codon. It is expected to result in an absent or disrupted protein product. Truncating variants in BRCA1 are known to be pathogenic. The mutation database ClinVar contains entries for this variant (Variation ID: 54657).
Comment:
Variant summary: The BRCA1 c.2722G>T (p.Glu908X) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. If a stable protein is made, Glu908X is predicted to eliminate the BRCT domain. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. p.Val923fsX76, p.Asp936fsX63, etc.). One in silico tool predicts a damaging outcome for this variant. This variant was found in 1/121362 control chromosomes at a frequency of 0.0000082, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). The variant was cited in multiple HBOC patients in the literature and was shown to co-segregate with disease. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed in individuals with a personal or family history consistent with pathogenic variants in this gene (Serova 1996, Sugano 2008, Boukerroucha 2015, Conroy 2017); Not observed in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 2841G>T; This variant is associated with the following publications: (PMID: 26010302, 25722380, 28152038, 22006311, 8554067, 22009639, 24055113, 25880076, 25637381, 10553024, 9150151, 19016756, 25452441, 18465347, 16615107, 20104584, 19949876, 14574155, 9465809, 16528604, 9667259, 12393792, 25504618, 24549055, 27767231, 28959512, 29907814, 29470806, 28724667, 30702160, 29446198, 28176296, 25525159, 31825140, 31742824, 11597388)
Comment:
This sequence change creates a premature translational stop signal (p.Glu908*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast and ovarian cancer and glioblastoma (PMID: 8554067, 19016756, 19949876, 25880076). This variant is also known as 2841G>T. ClinVar contains an entry for this variant (Variation ID: 54657). For these reasons, this variant has been classified as Pathogenic.
Comment:
This variant changes 1 nucleotide in exon 10 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in multiple individuals affected with breast cancer, ovarian cancer and glioblastoma (PMID: 19016756, 22006311, 25880076, 26010302, 29470806, 32380732, 33471991, 35625946). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Comment:
The p.E908* pathogenic mutation (also known as c.2722G>T), located in coding exon 9 of the BRCA1 gene, results from a G to T substitution at nucleotide position 2722. This changes the amino acid from a glutamic acid to a stop codon within coding exon 9. This mutation has been reported in multiple breast and ovarian cancer (HBOC) syndrome kindreds to date (Serova O et al. Am. J. Hum. Genet. 1996 Jan;58:42-51; Walsh T et al. Proc. Natl. Acad. Sci. USA. 2011 Nov;108:18032-7; Boukerroucha M et al. BMC Cancer. 2015 Mar;15:181; De Brakeleer S et al. Clin. Genet.. 2016 Mar;89:336-40; Singh J et al. Breast Cancer Res. Treat. 2018 Jul;170(1):189-196). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Comment:
The c.2722G>T (p.Glu908*) variant in the BRCA1 gene is predicted to introduce a premature translation termination codon. This variant has been reported in multiple individuals affected with breast or ovarian cancer (PMID 8554067, 19016756, 19949876, 22006311, 22009639, 25880076). This variant is not observed in gnomAD database. Therefore, the c.1953_1956delGAAA (p.Lys653Serfs*47) variant in the BRCA1 gene is classified as pathogenic.
Comment:
This nonsense variant causes the premature termination of BRCA1 protein synthesis. This variant has been reported in the published literature in individuals and families affected with breast/ovarian cancer (PMIDs: 12393792 (2002), 12068003 (2002), 29470806 (2018), 29907814 (2018), 32380732 (2020)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic.
Comment:
This variant changes 1 nucleotide in exon 10 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in multiple individuals affected with breast cancer, ovarian cancer and glioblastoma (PMID: 19016756, 22006311, 25880076, 26010302, 29470806, 32380732, 33471991, 35625946). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
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. |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
Comment:
The p.Glu908X variant in BRCA1 has been reported in >60 individuals with BRCA1-a ssociated cancers (Serova 1996, Couch 2015, Boukerroucha 2015, Breast Cancer Inf ormation Core (BIC), Sharing Clinical Reports Project). This variant has been id entified in 1/8600 European chromosomes by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS/; dbSNP rs80356978). This nonsense variant leads to a premature termination codon at position 908, which is predicted to lead to a truncated or absent protein. Heterozygous loss of function of the BRCA1 gene is an established disease mechanism in individuals with hereditary breast and ov arian cancer (HBOC). In addition, this variant was classified as Pathogenic on S eptember 8, 2016 by the ClinGen-approved ENIGMA expert panel (ClinVar SCV0002998 19.2). In summary, this variant meets our criteria to be classified as pathogeni c for HBOC in an autosomal dominant manner.
Comment:
This is a single base substitution, replacing the Glutamate at position 908 of the BRCA1 protein by a Termination codon. It is expected to result in an absent or disrupted protein product. Truncating variants in BRCA1 are known to be pathogenic. The mutation database ClinVar contains entries for this variant (Variation ID: 54657).
Comment:
Variant summary: The BRCA1 c.2722G>T (p.Glu908X) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. If a stable protein is made, Glu908X is predicted to eliminate the BRCT domain. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. p.Val923fsX76, p.Asp936fsX63, etc.). One in silico tool predicts a damaging outcome for this variant. This variant was found in 1/121362 control chromosomes at a frequency of 0.0000082, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). The variant was cited in multiple HBOC patients in the literature and was shown to co-segregate with disease. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Comment:
Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed in individuals with a personal or family history consistent with pathogenic variants in this gene (Serova 1996, Sugano 2008, Boukerroucha 2015, Conroy 2017); Not observed in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 2841G>T; This variant is associated with the following publications: (PMID: 26010302, 25722380, 28152038, 22006311, 8554067, 22009639, 24055113, 25880076, 25637381, 10553024, 9150151, 19016756, 25452441, 18465347, 16615107, 20104584, 19949876, 14574155, 9465809, 16528604, 9667259, 12393792, 25504618, 24549055, 27767231, 28959512, 29907814, 29470806, 28724667, 30702160, 29446198, 28176296, 25525159, 31825140, 31742824, 11597388)
Comment:
This sequence change creates a premature translational stop signal (p.Glu908*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast and ovarian cancer and glioblastoma (PMID: 8554067, 19016756, 19949876, 25880076). This variant is also known as 2841G>T. ClinVar contains an entry for this variant (Variation ID: 54657). For these reasons, this variant has been classified as Pathogenic.
Comment:
This variant changes 1 nucleotide in exon 10 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in multiple individuals affected with breast cancer, ovarian cancer and glioblastoma (PMID: 19016756, 22006311, 25880076, 26010302, 29470806, 32380732, 33471991, 35625946). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Comment:
The p.E908* pathogenic mutation (also known as c.2722G>T), located in coding exon 9 of the BRCA1 gene, results from a G to T substitution at nucleotide position 2722. This changes the amino acid from a glutamic acid to a stop codon within coding exon 9. This mutation has been reported in multiple breast and ovarian cancer (HBOC) syndrome kindreds to date (Serova O et al. Am. J. Hum. Genet. 1996 Jan;58:42-51; Walsh T et al. Proc. Natl. Acad. Sci. USA. 2011 Nov;108:18032-7; Boukerroucha M et al. BMC Cancer. 2015 Mar;15:181; De Brakeleer S et al. Clin. Genet.. 2016 Mar;89:336-40; Singh J et al. Breast Cancer Res. Treat. 2018 Jul;170(1):189-196). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Comment:
The c.2722G>T (p.Glu908*) variant in the BRCA1 gene is predicted to introduce a premature translation termination codon. This variant has been reported in multiple individuals affected with breast or ovarian cancer (PMID 8554067, 19016756, 19949876, 22006311, 22009639, 25880076). This variant is not observed in gnomAD database. Therefore, the c.1953_1956delGAAA (p.Lys653Serfs*47) variant in the BRCA1 gene is classified as pathogenic.
Comment:
This nonsense variant causes the premature termination of BRCA1 protein synthesis. This variant has been reported in the published literature in individuals and families affected with breast/ovarian cancer (PMIDs: 12393792 (2002), 12068003 (2002), 29470806 (2018), 29907814 (2018), 32380732 (2020)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic.
Comment:
This variant changes 1 nucleotide in exon 10 of the BRCA1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in multiple individuals affected with breast cancer, ovarian cancer and glioblastoma (PMID: 19016756, 22006311, 25880076, 26010302, 29470806, 32380732, 33471991, 35625946). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| A Prognostic and Carboplatin Response Predictive Model in Ovarian Cancer: A Mono-Institutional Retrospective Study Based on Clinics and Pharmacogenomics. | Staropoli N | Biomedicines | 2022 | PMID: 35625946 |
| Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. | Breast Cancer Association Consortium | The New England journal of medicine | 2021 | PMID: 33471991 |
| Hereditary Breast and Ovarian Cancer in Families from Southern Italy (Sicily)-Prevalence and Geographic Distribution of Pathogenic Variants in BRCA1/2 Genes. | Incorvaia L | Cancers | 2020 | PMID: 32380732 |
| The germline mutational landscape of BRCA1 and BRCA2 in Brazil. | Palmero EI | Scientific reports | 2018 | PMID: 29907814 |
| Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations. | Singh J | Breast cancer research and treatment | 2018 | PMID: 29470806 |
| Frequent incidence of BARD1-truncating mutations in germline DNA from triple-negative breast cancer patients. | De Brakeleer S | Clinical genetics | 2016 | PMID: 26010302 |
| BRCA1 germline mutation and glioblastoma development: report of cases. | Boukerroucha M | BMC cancer | 2015 | PMID: 25880076 |
| Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. | Couch FJ | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2015 | PMID: 25452441 |
| Actionable, pathogenic incidental findings in 1,000 participants' exomes. | Dorschner MO | American journal of human genetics | 2013 | PMID: 24055113 |
| Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. | Walsh T | Proceedings of the National Academy of Sciences of the United States of America | 2011 | PMID: 22006311 |
| Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
| Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection. | van Harssel JJ | Familial cancer | 2010 | PMID: 19949876 |
| Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer. | Sugano K | Cancer science | 2008 | PMID: 19016756 |
| A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. | van der Hout AH | Human mutation | 2006 | PMID: 16683254 |
| MYC is amplified in BRCA1-associated breast cancers. | Grushko TA | Clinical cancer research : an official journal of the American Association for Cancer Research | 2004 | PMID: 14760071 |
| The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. | Perrin-Vidoz L | Human molecular genetics | 2002 | PMID: 12393792 |
| The B16F10 cell receptor for a metastasis-promoting site on laminin-1 is a heparan sulfate/chondroitin sulfate-containing proteoglycan. | Engbring JA | Cancer research | 2002 | PMID: 12068003 |
| Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families. | Verhoog LC | European journal of cancer (Oxford, England : 1990) | 2001 | PMID: 11597388 |
| A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families. | Serova O | American journal of human genetics | 1996 | PMID: 8554067 |
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Text-mined citations for rs80356978 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated 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.