ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp)
Variation ID: 55726 Accession: VCV000055726.37
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43094707 (GRCh38) [ NCBI UCSC ] 17: 41246724 (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 Jun 9, 2014 May 1, 2024 Jun 18, 2019 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.824G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gly275Asp missense NM_001407571.1:c.611G>A NP_001394500.1:p.Gly204Asp missense NM_001407581.1:c.824G>A NP_001394510.1:p.Gly275Asp missense NM_001407582.1:c.824G>A NP_001394511.1:p.Gly275Asp missense NM_001407583.1:c.824G>A NP_001394512.1:p.Gly275Asp missense NM_001407585.1:c.824G>A NP_001394514.1:p.Gly275Asp missense NM_001407587.1:c.821G>A NP_001394516.1:p.Gly274Asp missense NM_001407590.1:c.821G>A NP_001394519.1:p.Gly274Asp missense NM_001407591.1:c.821G>A NP_001394520.1:p.Gly274Asp missense NM_001407593.1:c.824G>A NP_001394522.1:p.Gly275Asp missense NM_001407594.1:c.824G>A NP_001394523.1:p.Gly275Asp missense NM_001407596.1:c.824G>A NP_001394525.1:p.Gly275Asp missense NM_001407597.1:c.824G>A NP_001394526.1:p.Gly275Asp missense NM_001407598.1:c.824G>A NP_001394527.1:p.Gly275Asp missense NM_001407602.1:c.824G>A NP_001394531.1:p.Gly275Asp missense NM_001407603.1:c.824G>A NP_001394532.1:p.Gly275Asp missense NM_001407605.1:c.824G>A NP_001394534.1:p.Gly275Asp missense NM_001407610.1:c.821G>A NP_001394539.1:p.Gly274Asp missense NM_001407611.1:c.821G>A NP_001394540.1:p.Gly274Asp missense NM_001407612.1:c.821G>A NP_001394541.1:p.Gly274Asp missense NM_001407613.1:c.821G>A NP_001394542.1:p.Gly274Asp missense NM_001407614.1:c.821G>A NP_001394543.1:p.Gly274Asp missense NM_001407615.1:c.821G>A NP_001394544.1:p.Gly274Asp missense NM_001407616.1:c.824G>A NP_001394545.1:p.Gly275Asp missense NM_001407617.1:c.824G>A NP_001394546.1:p.Gly275Asp missense NM_001407618.1:c.824G>A NP_001394547.1:p.Gly275Asp missense NM_001407619.1:c.824G>A NP_001394548.1:p.Gly275Asp missense NM_001407620.1:c.824G>A NP_001394549.1:p.Gly275Asp missense NM_001407621.1:c.824G>A NP_001394550.1:p.Gly275Asp missense NM_001407622.1:c.824G>A NP_001394551.1:p.Gly275Asp missense NM_001407623.1:c.824G>A NP_001394552.1:p.Gly275Asp missense NM_001407624.1:c.824G>A NP_001394553.1:p.Gly275Asp missense NM_001407625.1:c.824G>A NP_001394554.1:p.Gly275Asp missense NM_001407626.1:c.824G>A NP_001394555.1:p.Gly275Asp missense NM_001407627.1:c.821G>A NP_001394556.1:p.Gly274Asp missense NM_001407628.1:c.821G>A NP_001394557.1:p.Gly274Asp missense NM_001407629.1:c.821G>A NP_001394558.1:p.Gly274Asp missense NM_001407630.1:c.821G>A NP_001394559.1:p.Gly274Asp missense NM_001407631.1:c.821G>A NP_001394560.1:p.Gly274Asp missense NM_001407632.1:c.821G>A NP_001394561.1:p.Gly274Asp missense NM_001407633.1:c.821G>A NP_001394562.1:p.Gly274Asp missense NM_001407634.1:c.821G>A NP_001394563.1:p.Gly274Asp missense NM_001407635.1:c.821G>A NP_001394564.1:p.Gly274Asp missense NM_001407636.1:c.821G>A NP_001394565.1:p.Gly274Asp missense NM_001407637.1:c.821G>A NP_001394566.1:p.Gly274Asp missense NM_001407638.1:c.821G>A NP_001394567.1:p.Gly274Asp missense NM_001407639.1:c.824G>A NP_001394568.1:p.Gly275Asp missense NM_001407640.1:c.824G>A NP_001394569.1:p.Gly275Asp missense NM_001407641.1:c.824G>A NP_001394570.1:p.Gly275Asp missense NM_001407642.1:c.824G>A NP_001394571.1:p.Gly275Asp missense NM_001407644.1:c.821G>A NP_001394573.1:p.Gly274Asp missense NM_001407645.1:c.821G>A NP_001394574.1:p.Gly274Asp missense NM_001407646.1:c.815G>A NP_001394575.1:p.Gly272Asp missense NM_001407647.1:c.815G>A NP_001394576.1:p.Gly272Asp missense NM_001407648.1:c.701G>A NP_001394577.1:p.Gly234Asp missense NM_001407649.1:c.698G>A NP_001394578.1:p.Gly233Asp missense NM_001407652.1:c.824G>A NP_001394581.1:p.Gly275Asp missense NM_001407653.1:c.746G>A NP_001394582.1:p.Gly249Asp missense NM_001407654.1:c.746G>A NP_001394583.1:p.Gly249Asp missense NM_001407655.1:c.746G>A NP_001394584.1:p.Gly249Asp missense NM_001407656.1:c.746G>A NP_001394585.1:p.Gly249Asp missense NM_001407657.1:c.746G>A NP_001394586.1:p.Gly249Asp missense NM_001407658.1:c.746G>A NP_001394587.1:p.Gly249Asp missense NM_001407659.1:c.743G>A NP_001394588.1:p.Gly248Asp missense NM_001407660.1:c.743G>A NP_001394589.1:p.Gly248Asp missense NM_001407661.1:c.743G>A NP_001394590.1:p.Gly248Asp missense NM_001407662.1:c.743G>A NP_001394591.1:p.Gly248Asp missense NM_001407663.1:c.746G>A NP_001394592.1:p.Gly249Asp missense NM_001407664.1:c.701G>A NP_001394593.1:p.Gly234Asp missense NM_001407665.1:c.701G>A NP_001394594.1:p.Gly234Asp missense NM_001407666.1:c.701G>A NP_001394595.1:p.Gly234Asp missense NM_001407667.1:c.701G>A NP_001394596.1:p.Gly234Asp missense NM_001407668.1:c.701G>A NP_001394597.1:p.Gly234Asp missense NM_001407669.1:c.701G>A NP_001394598.1:p.Gly234Asp missense NM_001407670.1:c.698G>A NP_001394599.1:p.Gly233Asp missense NM_001407671.1:c.698G>A NP_001394600.1:p.Gly233Asp missense NM_001407672.1:c.698G>A NP_001394601.1:p.Gly233Asp missense NM_001407673.1:c.698G>A NP_001394602.1:p.Gly233Asp missense NM_001407674.1:c.701G>A NP_001394603.1:p.Gly234Asp missense NM_001407675.1:c.701G>A NP_001394604.1:p.Gly234Asp missense NM_001407676.1:c.701G>A NP_001394605.1:p.Gly234Asp missense NM_001407677.1:c.701G>A NP_001394606.1:p.Gly234Asp missense NM_001407678.1:c.701G>A NP_001394607.1:p.Gly234Asp missense NM_001407679.1:c.701G>A NP_001394608.1:p.Gly234Asp missense NM_001407680.1:c.701G>A NP_001394609.1:p.Gly234Asp missense NM_001407681.1:c.701G>A NP_001394610.1:p.Gly234Asp missense NM_001407682.1:c.701G>A NP_001394611.1:p.Gly234Asp missense NM_001407683.1:c.701G>A NP_001394612.1:p.Gly234Asp missense NM_001407684.1:c.824G>A NP_001394613.1:p.Gly275Asp missense NM_001407685.1:c.698G>A NP_001394614.1:p.Gly233Asp missense NM_001407686.1:c.698G>A NP_001394615.1:p.Gly233Asp missense NM_001407687.1:c.698G>A NP_001394616.1:p.Gly233Asp missense NM_001407688.1:c.698G>A NP_001394617.1:p.Gly233Asp missense NM_001407689.1:c.698G>A NP_001394618.1:p.Gly233Asp missense NM_001407690.1:c.698G>A NP_001394619.1:p.Gly233Asp missense NM_001407691.1:c.698G>A NP_001394620.1:p.Gly233Asp missense NM_001407692.1:c.683G>A NP_001394621.1:p.Gly228Asp missense NM_001407694.1:c.683G>A NP_001394623.1:p.Gly228Asp missense NM_001407695.1:c.683G>A NP_001394624.1:p.Gly228Asp missense NM_001407696.1:c.683G>A NP_001394625.1:p.Gly228Asp missense NM_001407697.1:c.683G>A NP_001394626.1:p.Gly228Asp missense NM_001407698.1:c.683G>A NP_001394627.1:p.Gly228Asp missense NM_001407724.1:c.683G>A NP_001394653.1:p.Gly228Asp missense NM_001407725.1:c.683G>A NP_001394654.1:p.Gly228Asp missense NM_001407726.1:c.683G>A NP_001394655.1:p.Gly228Asp missense NM_001407727.1:c.683G>A NP_001394656.1:p.Gly228Asp missense NM_001407728.1:c.683G>A NP_001394657.1:p.Gly228Asp missense NM_001407729.1:c.683G>A NP_001394658.1:p.Gly228Asp missense NM_001407730.1:c.683G>A NP_001394659.1:p.Gly228Asp missense NM_001407731.1:c.683G>A NP_001394660.1:p.Gly228Asp missense NM_001407732.1:c.683G>A NP_001394661.1:p.Gly228Asp missense NM_001407733.1:c.683G>A NP_001394662.1:p.Gly228Asp missense NM_001407734.1:c.683G>A NP_001394663.1:p.Gly228Asp missense NM_001407735.1:c.683G>A NP_001394664.1:p.Gly228Asp missense NM_001407736.1:c.683G>A NP_001394665.1:p.Gly228Asp missense NM_001407737.1:c.683G>A NP_001394666.1:p.Gly228Asp missense NM_001407738.1:c.683G>A NP_001394667.1:p.Gly228Asp missense NM_001407739.1:c.683G>A NP_001394668.1:p.Gly228Asp missense NM_001407740.1:c.680G>A NP_001394669.1:p.Gly227Asp missense NM_001407741.1:c.680G>A NP_001394670.1:p.Gly227Asp missense NM_001407742.1:c.680G>A NP_001394671.1:p.Gly227Asp missense NM_001407743.1:c.680G>A NP_001394672.1:p.Gly227Asp missense NM_001407744.1:c.680G>A NP_001394673.1:p.Gly227Asp missense NM_001407745.1:c.680G>A NP_001394674.1:p.Gly227Asp missense NM_001407746.1:c.680G>A NP_001394675.1:p.Gly227Asp missense NM_001407747.1:c.680G>A NP_001394676.1:p.Gly227Asp missense NM_001407748.1:c.680G>A NP_001394677.1:p.Gly227Asp missense NM_001407749.1:c.680G>A NP_001394678.1:p.Gly227Asp missense NM_001407750.1:c.683G>A NP_001394679.1:p.Gly228Asp missense NM_001407751.1:c.683G>A NP_001394680.1:p.Gly228Asp missense NM_001407752.1:c.683G>A NP_001394681.1:p.Gly228Asp missense NM_001407838.1:c.680G>A NP_001394767.1:p.Gly227Asp missense NM_001407839.1:c.680G>A NP_001394768.1:p.Gly227Asp missense NM_001407841.1:c.680G>A NP_001394770.1:p.Gly227Asp missense NM_001407842.1:c.680G>A NP_001394771.1:p.Gly227Asp missense NM_001407843.1:c.680G>A NP_001394772.1:p.Gly227Asp missense NM_001407844.1:c.680G>A NP_001394773.1:p.Gly227Asp missense NM_001407845.1:c.680G>A NP_001394774.1:p.Gly227Asp missense NM_001407846.1:c.680G>A NP_001394775.1:p.Gly227Asp missense NM_001407847.1:c.680G>A NP_001394776.1:p.Gly227Asp missense NM_001407848.1:c.680G>A NP_001394777.1:p.Gly227Asp missense NM_001407849.1:c.680G>A NP_001394778.1:p.Gly227Asp missense NM_001407850.1:c.683G>A NP_001394779.1:p.Gly228Asp missense NM_001407851.1:c.683G>A NP_001394780.1:p.Gly228Asp missense NM_001407852.1:c.683G>A NP_001394781.1:p.Gly228Asp missense NM_001407853.1:c.611G>A NP_001394782.1:p.Gly204Asp missense NM_001407854.1:c.824G>A NP_001394783.1:p.Gly275Asp missense NM_001407858.1:c.824G>A NP_001394787.1:p.Gly275Asp missense NM_001407859.1:c.824G>A NP_001394788.1:p.Gly275Asp missense NM_001407860.1:c.821G>A NP_001394789.1:p.Gly274Asp missense NM_001407861.1:c.821G>A NP_001394790.1:p.Gly274Asp missense NM_001407862.1:c.623G>A NP_001394791.1:p.Gly208Asp missense NM_001407863.1:c.701G>A NP_001394792.1:p.Gly234Asp missense NM_001407874.1:c.620G>A NP_001394803.1:p.Gly207Asp missense NM_001407875.1:c.620G>A NP_001394804.1:p.Gly207Asp missense NM_001407879.1:c.614G>A NP_001394808.1:p.Gly205Asp missense NM_001407881.1:c.614G>A NP_001394810.1:p.Gly205Asp missense NM_001407882.1:c.614G>A NP_001394811.1:p.Gly205Asp missense NM_001407884.1:c.614G>A NP_001394813.1:p.Gly205Asp missense NM_001407885.1:c.614G>A NP_001394814.1:p.Gly205Asp missense NM_001407886.1:c.614G>A NP_001394815.1:p.Gly205Asp missense NM_001407887.1:c.614G>A NP_001394816.1:p.Gly205Asp missense NM_001407889.1:c.614G>A NP_001394818.1:p.Gly205Asp missense NM_001407894.1:c.611G>A NP_001394823.1:p.Gly204Asp missense NM_001407895.1:c.611G>A NP_001394824.1:p.Gly204Asp missense NM_001407896.1:c.611G>A NP_001394825.1:p.Gly204Asp missense NM_001407897.1:c.611G>A NP_001394826.1:p.Gly204Asp missense NM_001407898.1:c.611G>A NP_001394827.1:p.Gly204Asp missense NM_001407899.1:c.611G>A NP_001394828.1:p.Gly204Asp missense NM_001407900.1:c.614G>A NP_001394829.1:p.Gly205Asp missense NM_001407902.1:c.614G>A NP_001394831.1:p.Gly205Asp missense NM_001407904.1:c.614G>A NP_001394833.1:p.Gly205Asp missense NM_001407906.1:c.614G>A NP_001394835.1:p.Gly205Asp missense NM_001407907.1:c.614G>A NP_001394836.1:p.Gly205Asp missense NM_001407908.1:c.614G>A NP_001394837.1:p.Gly205Asp missense NM_001407909.1:c.614G>A NP_001394838.1:p.Gly205Asp missense NM_001407910.1:c.614G>A NP_001394839.1:p.Gly205Asp missense NM_001407915.1:c.611G>A NP_001394844.1:p.Gly204Asp missense NM_001407916.1:c.611G>A NP_001394845.1:p.Gly204Asp missense NM_001407917.1:c.611G>A NP_001394846.1:p.Gly204Asp missense NM_001407918.1:c.611G>A NP_001394847.1:p.Gly204Asp missense NM_001407919.1:c.701G>A NP_001394848.1:p.Gly234Asp missense NM_001407920.1:c.560G>A NP_001394849.1:p.Gly187Asp missense NM_001407921.1:c.560G>A NP_001394850.1:p.Gly187Asp missense NM_001407922.1:c.560G>A NP_001394851.1:p.Gly187Asp missense NM_001407923.1:c.560G>A NP_001394852.1:p.Gly187Asp missense NM_001407924.1:c.560G>A NP_001394853.1:p.Gly187Asp missense NM_001407925.1:c.560G>A NP_001394854.1:p.Gly187Asp missense NM_001407926.1:c.560G>A NP_001394855.1:p.Gly187Asp missense NM_001407927.1:c.560G>A NP_001394856.1:p.Gly187Asp missense NM_001407928.1:c.560G>A NP_001394857.1:p.Gly187Asp missense NM_001407929.1:c.560G>A NP_001394858.1:p.Gly187Asp missense NM_001407930.1:c.557G>A NP_001394859.1:p.Gly186Asp missense NM_001407931.1:c.557G>A NP_001394860.1:p.Gly186Asp missense NM_001407932.1:c.557G>A NP_001394861.1:p.Gly186Asp missense NM_001407933.1:c.560G>A NP_001394862.1:p.Gly187Asp missense NM_001407934.1:c.557G>A NP_001394863.1:p.Gly186Asp missense NM_001407935.1:c.560G>A NP_001394864.1:p.Gly187Asp missense NM_001407936.1:c.557G>A NP_001394865.1:p.Gly186Asp missense NM_001407937.1:c.701G>A NP_001394866.1:p.Gly234Asp missense NM_001407938.1:c.701G>A NP_001394867.1:p.Gly234Asp missense NM_001407939.1:c.701G>A NP_001394868.1:p.Gly234Asp missense NM_001407940.1:c.698G>A NP_001394869.1:p.Gly233Asp missense NM_001407941.1:c.698G>A NP_001394870.1:p.Gly233Asp missense NM_001407942.1:c.683G>A NP_001394871.1:p.Gly228Asp missense NM_001407943.1:c.680G>A NP_001394872.1:p.Gly227Asp missense NM_001407944.1:c.683G>A NP_001394873.1:p.Gly228Asp missense NM_001407945.1:c.683G>A NP_001394874.1:p.Gly228Asp missense NM_001407946.1:c.491G>A NP_001394875.1:p.Gly164Asp missense NM_001407947.1:c.491G>A NP_001394876.1:p.Gly164Asp missense NM_001407948.1:c.491G>A NP_001394877.1:p.Gly164Asp missense NM_001407949.1:c.491G>A NP_001394878.1:p.Gly164Asp missense NM_001407950.1:c.491G>A NP_001394879.1:p.Gly164Asp missense NM_001407951.1:c.491G>A NP_001394880.1:p.Gly164Asp missense NM_001407952.1:c.491G>A NP_001394881.1:p.Gly164Asp missense NM_001407953.1:c.491G>A NP_001394882.1:p.Gly164Asp missense NM_001407954.1:c.488G>A NP_001394883.1:p.Gly163Asp missense NM_001407955.1:c.488G>A NP_001394884.1:p.Gly163Asp missense NM_001407956.1:c.488G>A NP_001394885.1:p.Gly163Asp missense NM_001407957.1:c.491G>A NP_001394886.1:p.Gly164Asp missense NM_001407958.1:c.488G>A NP_001394887.1:p.Gly163Asp missense NM_001407959.1:c.443G>A NP_001394888.1:p.Gly148Asp missense NM_001407960.1:c.443G>A NP_001394889.1:p.Gly148Asp missense NM_001407962.1:c.440G>A NP_001394891.1:p.Gly147Asp missense NM_001407963.1:c.443G>A NP_001394892.1:p.Gly148Asp missense NM_001407964.1:c.680G>A NP_001394893.1:p.Gly227Asp missense NM_001407965.1:c.320G>A NP_001394894.1:p.Gly107Asp missense NM_001407966.1:c.-65G>A 5 prime UTR NM_001407967.1:c.-65G>A 5 prime UTR NM_001407968.1:c.787+37G>A intron variant NM_001407969.1:c.787+37G>A intron variant NM_001407970.1:c.787+37G>A intron variant NM_001407971.1:c.787+37G>A intron variant NM_001407972.1:c.784+37G>A intron variant NM_001407973.1:c.787+37G>A intron variant NM_001407974.1:c.787+37G>A intron variant NM_001407975.1:c.787+37G>A intron variant NM_001407976.1:c.787+37G>A intron variant NM_001407977.1:c.787+37G>A intron variant NM_001407978.1:c.787+37G>A intron variant NM_001407979.1:c.787+37G>A intron variant NM_001407980.1:c.787+37G>A intron variant NM_001407981.1:c.787+37G>A intron variant NM_001407982.1:c.787+37G>A intron variant NM_001407983.1:c.787+37G>A intron variant NM_001407984.1:c.784+37G>A intron variant NM_001407985.1:c.784+37G>A intron variant NM_001407986.1:c.784+37G>A intron variant NM_001407990.1:c.787+37G>A intron variant NM_001407991.1:c.784+37G>A intron variant NM_001407992.1:c.784+37G>A intron variant NM_001407993.1:c.787+37G>A intron variant NM_001408392.1:c.784+37G>A intron variant NM_001408396.1:c.784+37G>A intron variant NM_001408397.1:c.784+37G>A intron variant NM_001408398.1:c.784+37G>A intron variant NM_001408399.1:c.784+37G>A intron variant NM_001408400.1:c.784+37G>A intron variant NM_001408401.1:c.784+37G>A intron variant NM_001408402.1:c.784+37G>A intron variant NM_001408403.1:c.787+37G>A intron variant NM_001408404.1:c.787+37G>A intron variant NM_001408406.1:c.790+34G>A intron variant NM_001408407.1:c.784+37G>A intron variant NM_001408408.1:c.778+37G>A intron variant NM_001408409.1:c.709+37G>A intron variant NM_001408410.1:c.646+37G>A intron variant NM_001408411.1:c.709+37G>A intron variant NM_001408412.1:c.709+37G>A intron variant NM_001408413.1:c.706+37G>A intron variant NM_001408414.1:c.709+37G>A intron variant NM_001408415.1:c.709+37G>A intron variant NM_001408416.1:c.706+37G>A intron variant NM_001408418.1:c.670+1139G>A intron variant NM_001408419.1:c.670+1139G>A intron variant NM_001408420.1:c.670+1139G>A intron variant NM_001408421.1:c.667+1139G>A intron variant NM_001408422.1:c.670+1139G>A intron variant NM_001408423.1:c.670+1139G>A intron variant NM_001408424.1:c.667+1139G>A intron variant NM_001408425.1:c.664+37G>A intron variant NM_001408426.1:c.664+37G>A intron variant NM_001408427.1:c.664+37G>A intron variant NM_001408428.1:c.664+37G>A intron variant NM_001408429.1:c.664+37G>A intron variant NM_001408430.1:c.664+37G>A intron variant NM_001408431.1:c.667+1139G>A intron variant NM_001408432.1:c.661+37G>A intron variant NM_001408433.1:c.661+37G>A intron variant NM_001408434.1:c.661+37G>A intron variant NM_001408435.1:c.661+37G>A intron variant NM_001408436.1:c.664+37G>A intron variant NM_001408437.1:c.664+37G>A intron variant NM_001408438.1:c.664+37G>A intron variant NM_001408439.1:c.664+37G>A intron variant NM_001408440.1:c.664+37G>A intron variant NM_001408441.1:c.664+37G>A intron variant NM_001408442.1:c.664+37G>A intron variant NM_001408443.1:c.664+37G>A intron variant NM_001408444.1:c.664+37G>A intron variant NM_001408445.1:c.661+37G>A intron variant NM_001408446.1:c.661+37G>A intron variant NM_001408447.1:c.661+37G>A intron variant NM_001408448.1:c.661+37G>A intron variant NM_001408450.1:c.661+37G>A intron variant NM_001408451.1:c.652+37G>A intron variant NM_001408452.1:c.646+37G>A intron variant NM_001408453.1:c.646+37G>A intron variant NM_001408454.1:c.646+37G>A intron variant NM_001408455.1:c.646+37G>A intron variant NM_001408456.1:c.646+37G>A intron variant NM_001408457.1:c.646+37G>A intron variant NM_001408458.1:c.646+37G>A intron variant NM_001408459.1:c.646+37G>A intron variant NM_001408460.1:c.646+37G>A intron variant NM_001408461.1:c.646+37G>A intron variant NM_001408462.1:c.643+37G>A intron variant NM_001408463.1:c.643+37G>A intron variant NM_001408464.1:c.643+37G>A intron variant NM_001408465.1:c.643+37G>A intron variant NM_001408466.1:c.646+37G>A intron variant NM_001408467.1:c.646+37G>A intron variant NM_001408468.1:c.643+37G>A intron variant NM_001408469.1:c.646+37G>A intron variant NM_001408470.1:c.643+37G>A intron variant NM_001408472.1:c.787+37G>A intron variant NM_001408473.1:c.784+37G>A intron variant NM_001408474.1:c.586+37G>A intron variant NM_001408475.1:c.583+37G>A intron variant NM_001408476.1:c.586+37G>A intron variant NM_001408478.1:c.577+37G>A intron variant NM_001408479.1:c.577+37G>A intron variant NM_001408480.1:c.577+37G>A intron variant NM_001408481.1:c.577+37G>A intron variant NM_001408482.1:c.577+37G>A intron variant NM_001408483.1:c.577+37G>A intron variant NM_001408484.1:c.577+37G>A intron variant NM_001408485.1:c.577+37G>A intron variant NM_001408489.1:c.577+37G>A intron variant NM_001408490.1:c.574+37G>A intron variant NM_001408491.1:c.574+37G>A intron variant NM_001408492.1:c.577+37G>A intron variant NM_001408493.1:c.574+37G>A intron variant NM_001408494.1:c.548-3675G>A intron variant NM_001408495.1:c.545-3675G>A intron variant NM_001408496.1:c.523+37G>A intron variant NM_001408497.1:c.523+37G>A intron variant NM_001408498.1:c.523+37G>A intron variant NM_001408499.1:c.523+37G>A intron variant NM_001408500.1:c.523+37G>A intron variant NM_001408501.1:c.523+37G>A intron variant NM_001408502.1:c.454+37G>A intron variant NM_001408503.1:c.520+37G>A intron variant NM_001408504.1:c.520+37G>A intron variant NM_001408505.1:c.520+37G>A intron variant NM_001408506.1:c.460+1139G>A intron variant NM_001408507.1:c.460+1139G>A intron variant NM_001408508.1:c.451+37G>A intron variant NM_001408509.1:c.451+37G>A intron variant NM_001408510.1:c.406+37G>A intron variant NM_001408511.1:c.404-3675G>A intron variant NM_001408512.1:c.283+37G>A intron variant NM_001408513.1:c.577+37G>A intron variant NM_001408514.1:c.577+37G>A intron variant NM_007297.4:c.683G>A NP_009228.2:p.Gly228Asp missense NM_007298.4:c.787+37G>A intron variant NM_007299.4:c.787+37G>A intron variant NM_007300.4:c.824G>A NP_009231.2:p.Gly275Asp missense NR_027676.1:n.960G>A NC_000017.11:g.43094707C>T NC_000017.10:g.41246724C>T NG_005905.2:g.123277G>A LRG_292:g.123277G>A LRG_292t1:c.824G>A LRG_292p1:p.Gly275Asp - Protein change
- G275D, G228D, G248D, G274D, G164D, G227D, G272D, G147D, G187D, G204D, G207D, G234D, G249D, G107D, G148D, G163D, G208D, G233D, G186D, G205D
- Other names
- p.G275D:GGC>GAC
- Canonical SPDI
- NC_000017.11:43094706:C:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00008
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 |
12998 | 14798 |
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. |
---|---|---|---|---|
Likely benign (3) |
criteria provided, multiple submitters, no conflicts
|
Dec 14, 2020 | RCV000130114.18 | |
Conflicting interpretations of pathogenicity (3) |
criteria provided, conflicting classifications
|
Dec 12, 2020 | RCV000120298.23 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Nov 1, 2015 | RCV000240746.9 | |
Conflicting interpretations of pathogenicity (3) |
criteria provided, conflicting classifications
|
Oct 29, 2019 | RCV000589691.22 | |
Benign (4) |
reviewed by expert panel
|
Jun 18, 2019 | RCV000490300.17 | |
Benign (1) |
criteria provided, single submitter
|
Jan 29, 2024 | RCV001086294.13 | |
Likely benign (1) |
criteria provided, single submitter
|
Oct 31, 2021 | RCV002496722.8 | |
Uncertain significance (1) |
no assertion criteria provided
|
- | RCV002250549.9 |
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
(Jun 18, 2019)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV001161575.2
First in ClinVar: Feb 16, 2020 Last updated: Jan 07, 2023 |
Comment:
Variant allele has low bioinformatic likelihood to encode a missense alteration affecting protein function (Missense prior probability 0.02; http://priors.hci.utah.edu/PRIORS/), AND low bioinformatic likelihood to alter … (more)
Variant allele has low bioinformatic likelihood to encode a missense alteration affecting protein function (Missense prior probability 0.02; http://priors.hci.utah.edu/PRIORS/), AND low bioinformatic likelihood to alter mRNA splicing (splicing prior 0.02; http://priors.hci.utah.edu/PRIORS/), AND minor allele frequency 0.00104 (East Asian), derived from gnomAD v2.1.1 non-cancer (2019-05-13). (less)
|
|
Uncertain significance
(Nov 01, 2015)
|
criteria provided, single submitter
Method: research
|
Breast neoplasm
Affected status: yes
Allele origin:
germline
|
Laboratory of Molecular Diagnosis of Cancer, West China Hospital, Sichuan University
Additional submitter:
Asia and Emerging Markets iMed, AstraZeneca
Accession: SCV000265882.1
First in ClinVar: Sep 14, 2016 Last updated: Sep 14, 2016 |
Number of individuals with the variant: 1
Geographic origin: China
|
|
Uncertain significance
(Mar 18, 2016)
|
criteria provided, single submitter
Method: reference population
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
Accession: SCV000267229.1
First in ClinVar: May 25, 2017 Last updated: May 25, 2017 |
Number of individuals with the variant: 1
Age: 40-69 years
Ethnicity/Population group: East Asian
Geographic origin: South Korean
|
|
Uncertain significance
(Nov 24, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000337720.4
First in ClinVar: Dec 06, 2016 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 1
Sex: mixed
|
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Likely benign
(Nov 02, 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: SCV000910845.1
First in ClinVar: May 20, 2019 Last updated: May 20, 2019 |
|
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Benign
(Dec 12, 2020)
|
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: SCV000699315.3
First in ClinVar: Mar 17, 2018 Last updated: Jan 09, 2021 |
Comment:
Variant summary: BRCA1 c.824G>A (p.Gly275Asp) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging … (more)
Variant summary: BRCA1 c.824G>A (p.Gly275Asp) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00022 in 298510 control chromosomes, exclusively reported within the East Asian subpopulation at a frequency of 0.001 (in the gnomAD database and in Momozawa_2018). This frequency is comparable to the expected maximum frequency for a pathogenic variant in BRCA1 causing Hereditary Breast and Ovarian Cancer (0.001 vs 0.001), suggesting the variant could be a benign polymorphism found in populations from East Asia. In addition, the variant was reported in some East Asian subpopulations with even higher allele frequencies, e.g. in Koreans (0.0026, in gnomAD), and in Japanese (0.0012, in HGVD), further supporting a benign role for the variant. c.824G>A has been reported in the literature numerous individuals (generally in East Asians) affected with breast- and ovarian cancer and other tumor phenotypes (Carney_2010, Haffty_2009, Judkins_2005, Kato_2016, Kawahara_2004, Sakayori_2003, Shin_2016, Suter_2004, Zhong_2016, Bhaskaran_2019, Chan_2018, Choi_2018, Lee_2018, Park_2017), but was also found in several unaffected East Asian controls (Park_2017, Momozawa_2018). At-least two co-occurrences with another likely pathogenic variant (BRCA1 c.5165C>T, p.Ser1722Phe; Chan_2018) and a pathogenic variant (BRCA2 c.2808_2811delACAA, p.Ala938Profs, internal testing observation) have been observed, providing supporting evidence for a benign role. Two recent case-control association studies, involving breast cancer patients and controls of Korean- (Park_2017) and Japanese ancestry (Momozawa 2018), found that the variant is not associated with a significant increase in breast/ovarian cancer risk, and therefore the authors of these studies classified that the variant as likely benign/benign, respectively. In addition, in a study involving Korean breast cancer patients, multifactorial probability was estimated by performing systematic assessments of variants of unknown significance in the BRCA genes (which included analysis of co-occurrence with known deleterious mutations, personal and family history of cancer and tumor pathology) and predicted this variant to be likely benign (Lee_2018). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Eleven other clinical diagnostic laboratories and one expert panel (ENIGMA) have provided clinical-significance assessments for this variant in ClinVar after 2014, and classified the variant as likely benign (n=5), benign (n=1, ENIGMA) and VUS (n=6). Several submitters cite overlapping evidence utilized in the context of this evaluation. Based on the absence of any actionable evidence supporting causality in over 15 years of review and co-occurrence with other pathogenic variants in the BRCA1/2 genes, further supported by an expert panel assessment as outlined above, the variant was re-classified as benign. (less)
|
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Likely benign
(Jan 09, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000184944.8
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of … (more)
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
|
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Uncertain significance
(Dec 20, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000538457.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
Comment:
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or … (more)
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This variant has been reported in 4 papers in HGMD, that include affected and unaffected individuals. This variant is classified in ClinVar with 2 stars as VUS by Invitae, Ambry, GeneDx, and West China Hospital. The variant has a Max MAF of 0.13% in ExAC (12 East Asian alleles) and 0.1% in gnomAD (20 alleles). 19 non-mammals have an Asp at this position. (less)
Method: Genome/Exome Filtration
|
|
Uncertain significance
(Apr 27, 2017)
|
criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001280985.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. (less)
|
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Likely benign
(Aug 28, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001133654.3
First in ClinVar: Jan 04, 2020 Last updated: Jan 03, 2022 |
|
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Likely benign
(Dec 14, 2020)
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criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Sema4, Sema4
Accession: SCV002537925.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
|
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Likely benign
(Oct 31, 2021)
|
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: SCV002811405.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
|
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Likely benign
(Oct 29, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000210091.8
First in ClinVar: Feb 24, 2015 Last updated: Mar 04, 2023 |
Comment:
This variant is associated with the following publications: (PMID: 19491284, 22116506, 29601120, 30702160, 32426482, 15235020, 24728327, 12624724, 14973102, 15168169, 27257965, 27383479, 27124784, 29770616, 30093976, 30415210, … (more)
This variant is associated with the following publications: (PMID: 19491284, 22116506, 29601120, 30702160, 32426482, 15235020, 24728327, 12624724, 14973102, 15168169, 27257965, 27383479, 27124784, 29770616, 30093976, 30415210, 30287823, 31481248, 28111427, 28364669, 25823446, 31348995) (less)
|
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Benign
(Aug 22, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Mendelics
Accession: SCV001140618.2
First in ClinVar: Jan 09, 2020 Last updated: Aug 25, 2023 |
|
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Benign
(Jan 29, 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: SCV000077172.14
First in ClinVar: Jul 03, 2013 Last updated: Feb 20, 2024 |
|
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Uncertain significance
(-)
|
no assertion criteria provided
Method: literature only
|
Familial cancer of breast
Affected status: yes
Allele origin:
germline
|
Center for Precision Medicine, Meizhou People's Hospital
Accession: SCV002520905.1
First in ClinVar: Jun 05, 2022 Last updated: Jun 05, 2022 |
|
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not provided
(Sep 19, 2013)
|
no classification provided
Method: reference population
|
AllHighlyPenetrant
Affected status: unknown
Allele origin:
germline
|
ITMI
Accession: SCV000084450.1
First in ClinVar: Jun 09, 2014 Last updated: Jun 09, 2014
Comment:
Please see associated publication for description of ethnicities
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Observation 1:
Ethnicity/Population group: Whole_cohort
Observation 2:
Ethnicity/Population group: African
Observation 3:
Ethnicity/Population group: African_European
Observation 4:
Ethnicity/Population group: Central_Asian
Observation 5:
Ethnicity/Population group: East_Asian
Observation 6:
Ethnicity/Population group: European
Observation 7:
Ethnicity/Population group: Hispanic
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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 |
---|---|---|---|---|
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients. | Bhaskaran SP | International journal of cancer | 2019 | PMID: 30702160 |
Reclassification of BRCA1 and BRCA2 variants of uncertain significance: a multifactorial analysis of multicentre prospective cohort. | Lee JS | Journal of medical genetics | 2018 | PMID: 30415210 |
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls. | Momozawa Y | Nature communications | 2018 | PMID: 30287823 |
Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers. | Chan GHJ | Oncotarget | 2018 | PMID: 30093976 |
Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube. | Choi MC | Journal of gynecologic oncology | 2018 | PMID: 29770616 |
Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls. | Park JS | Cancer research and treatment | 2017 | PMID: 28111427 |
RET Aberrations in Diverse Cancers: Next-Generation Sequencing of 4,871 Patients. | Kato S | Clinical cancer research : an official journal of the American Association for Cancer Research | 2017 | PMID: 27683183 |
Evaluation of an amplicon-based next-generation sequencing panel for detection of BRCA1 and BRCA2 genetic variants. | Shin S | Breast cancer research and treatment | 2016 | PMID: 27383479 |
Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. | Zhong X | PloS one | 2016 | PMID: 27257965 |
Comparative analysis of BRCA1 and BRCA2 variants of uncertain significance in patients with breast cancer: a multifactorial probability-based model versus ACMG standards and guidelines for interpreting sequence variants. | Park KS | Genetics in medicine : official journal of the American College of Medical Genetics | 2016 | PMID: 27124784 |
Massively Parallel Functional Analysis of BRCA1 RING Domain Variants. | Starita LM | Genetics | 2015 | PMID: 25823446 |
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. | Bodian DL | PloS one | 2014 | PMID: 24728327 |
Somatic mutations in the BRCA1 gene in Chinese women with sporadic breast cancer. | Zhang M | Breast cancer research and treatment | 2012 | PMID: 22116506 |
Detection of BRCA1 and BRCA2 mutations in a selected Hawaii population. | Carney ME | Hawaii medical journal | 2010 | PMID: 21218378 |
Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups. | Haffty BG | Annals of oncology : official journal of the European Society for Medical Oncology | 2009 | PMID: 19491284 |
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 |
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. | Abkevich V | Journal of medical genetics | 2004 | PMID: 15235020 |
Identification and evaluation of 55 genetic variations in the BRCA1 and the BRCA2 genes of patients from 50 Japanese breast cancer families. | Kawahara M | Journal of human genetics | 2004 | PMID: 15168169 |
BRCA1 and BRCA2 mutations in women from Shanghai China. | Suter NM | Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2004 | PMID: 14973102 |
Evaluation of the diagnostic accuracy of the stop codon (SC) assay for identifying protein-truncating mutations in the BRCA1and BRCA2genes in familial breast cancer. | Sakayori M | Journal of human genetics | 2003 | PMID: 12624724 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=BRCA1 | - | - | - | - |
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Text-mined citations for rs397509327 ...
HelpRecord last updated Aug 18, 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.