ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly)
Variation ID: 220258 Accession: VCV000220258.21
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43104882 (GRCh38) [ NCBI UCSC ] 17: 41256899 (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 Dec 26, 2017 May 1, 2024 Aug 14, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.287A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Asp96Gly missense NM_001407571.1:c.77A>G NP_001394500.1:p.Asp26Gly missense NM_001407581.1:c.287A>G NP_001394510.1:p.Asp96Gly missense NM_001407582.1:c.287A>G NP_001394511.1:p.Asp96Gly missense NM_001407583.1:c.287A>G NP_001394512.1:p.Asp96Gly missense NM_001407585.1:c.287A>G NP_001394514.1:p.Asp96Gly missense NM_001407587.1:c.287A>G NP_001394516.1:p.Asp96Gly missense NM_001407590.1:c.287A>G NP_001394519.1:p.Asp96Gly missense NM_001407591.1:c.287A>G NP_001394520.1:p.Asp96Gly missense NM_001407593.1:c.287A>G NP_001394522.1:p.Asp96Gly missense NM_001407594.1:c.287A>G NP_001394523.1:p.Asp96Gly missense NM_001407596.1:c.287A>G NP_001394525.1:p.Asp96Gly missense NM_001407597.1:c.287A>G NP_001394526.1:p.Asp96Gly missense NM_001407598.1:c.287A>G NP_001394527.1:p.Asp96Gly missense NM_001407602.1:c.287A>G NP_001394531.1:p.Asp96Gly missense NM_001407603.1:c.287A>G NP_001394532.1:p.Asp96Gly missense NM_001407605.1:c.287A>G NP_001394534.1:p.Asp96Gly missense NM_001407610.1:c.287A>G NP_001394539.1:p.Asp96Gly missense NM_001407611.1:c.287A>G NP_001394540.1:p.Asp96Gly missense NM_001407612.1:c.287A>G NP_001394541.1:p.Asp96Gly missense NM_001407613.1:c.287A>G NP_001394542.1:p.Asp96Gly missense NM_001407614.1:c.287A>G NP_001394543.1:p.Asp96Gly missense NM_001407615.1:c.287A>G NP_001394544.1:p.Asp96Gly missense NM_001407616.1:c.287A>G NP_001394545.1:p.Asp96Gly missense NM_001407617.1:c.287A>G NP_001394546.1:p.Asp96Gly missense NM_001407618.1:c.287A>G NP_001394547.1:p.Asp96Gly missense NM_001407619.1:c.287A>G NP_001394548.1:p.Asp96Gly missense NM_001407620.1:c.287A>G NP_001394549.1:p.Asp96Gly missense NM_001407621.1:c.287A>G NP_001394550.1:p.Asp96Gly missense NM_001407622.1:c.287A>G NP_001394551.1:p.Asp96Gly missense NM_001407623.1:c.287A>G NP_001394552.1:p.Asp96Gly missense NM_001407624.1:c.287A>G NP_001394553.1:p.Asp96Gly missense NM_001407625.1:c.287A>G NP_001394554.1:p.Asp96Gly missense NM_001407626.1:c.287A>G NP_001394555.1:p.Asp96Gly missense NM_001407627.1:c.287A>G NP_001394556.1:p.Asp96Gly missense NM_001407628.1:c.287A>G NP_001394557.1:p.Asp96Gly missense NM_001407629.1:c.287A>G NP_001394558.1:p.Asp96Gly missense NM_001407630.1:c.287A>G NP_001394559.1:p.Asp96Gly missense NM_001407631.1:c.287A>G NP_001394560.1:p.Asp96Gly missense NM_001407632.1:c.287A>G NP_001394561.1:p.Asp96Gly missense NM_001407633.1:c.287A>G NP_001394562.1:p.Asp96Gly missense NM_001407634.1:c.287A>G NP_001394563.1:p.Asp96Gly missense NM_001407635.1:c.287A>G NP_001394564.1:p.Asp96Gly missense NM_001407636.1:c.287A>G NP_001394565.1:p.Asp96Gly missense NM_001407637.1:c.287A>G NP_001394566.1:p.Asp96Gly missense NM_001407638.1:c.287A>G NP_001394567.1:p.Asp96Gly missense NM_001407639.1:c.287A>G NP_001394568.1:p.Asp96Gly missense NM_001407640.1:c.287A>G NP_001394569.1:p.Asp96Gly missense NM_001407641.1:c.287A>G NP_001394570.1:p.Asp96Gly missense NM_001407642.1:c.287A>G NP_001394571.1:p.Asp96Gly missense NM_001407644.1:c.287A>G NP_001394573.1:p.Asp96Gly missense NM_001407645.1:c.287A>G NP_001394574.1:p.Asp96Gly missense NM_001407646.1:c.287A>G NP_001394575.1:p.Asp96Gly missense NM_001407647.1:c.287A>G NP_001394576.1:p.Asp96Gly missense NM_001407648.1:c.287A>G NP_001394577.1:p.Asp96Gly missense NM_001407649.1:c.287A>G NP_001394578.1:p.Asp96Gly missense NM_001407652.1:c.287A>G NP_001394581.1:p.Asp96Gly missense NM_001407653.1:c.209A>G NP_001394582.1:p.Asp70Gly missense NM_001407654.1:c.209A>G NP_001394583.1:p.Asp70Gly missense NM_001407655.1:c.209A>G NP_001394584.1:p.Asp70Gly missense NM_001407656.1:c.209A>G NP_001394585.1:p.Asp70Gly missense NM_001407657.1:c.209A>G NP_001394586.1:p.Asp70Gly missense NM_001407658.1:c.209A>G NP_001394587.1:p.Asp70Gly missense NM_001407659.1:c.209A>G NP_001394588.1:p.Asp70Gly missense NM_001407660.1:c.209A>G NP_001394589.1:p.Asp70Gly missense NM_001407661.1:c.209A>G NP_001394590.1:p.Asp70Gly missense NM_001407662.1:c.209A>G NP_001394591.1:p.Asp70Gly missense NM_001407663.1:c.209A>G NP_001394592.1:p.Asp70Gly missense NM_001407664.1:c.287A>G NP_001394593.1:p.Asp96Gly missense NM_001407665.1:c.287A>G NP_001394594.1:p.Asp96Gly missense NM_001407666.1:c.287A>G NP_001394595.1:p.Asp96Gly missense NM_001407667.1:c.287A>G NP_001394596.1:p.Asp96Gly missense NM_001407668.1:c.287A>G NP_001394597.1:p.Asp96Gly missense NM_001407669.1:c.287A>G NP_001394598.1:p.Asp96Gly missense NM_001407670.1:c.287A>G NP_001394599.1:p.Asp96Gly missense NM_001407671.1:c.287A>G NP_001394600.1:p.Asp96Gly missense NM_001407672.1:c.287A>G NP_001394601.1:p.Asp96Gly missense NM_001407673.1:c.287A>G NP_001394602.1:p.Asp96Gly missense NM_001407674.1:c.287A>G NP_001394603.1:p.Asp96Gly missense NM_001407675.1:c.287A>G NP_001394604.1:p.Asp96Gly missense NM_001407676.1:c.287A>G NP_001394605.1:p.Asp96Gly missense NM_001407677.1:c.287A>G NP_001394606.1:p.Asp96Gly missense NM_001407678.1:c.287A>G NP_001394607.1:p.Asp96Gly missense NM_001407679.1:c.287A>G NP_001394608.1:p.Asp96Gly missense NM_001407680.1:c.287A>G NP_001394609.1:p.Asp96Gly missense NM_001407681.1:c.287A>G NP_001394610.1:p.Asp96Gly missense NM_001407682.1:c.287A>G NP_001394611.1:p.Asp96Gly missense NM_001407683.1:c.287A>G NP_001394612.1:p.Asp96Gly missense NM_001407684.1:c.287A>G NP_001394613.1:p.Asp96Gly missense NM_001407685.1:c.287A>G NP_001394614.1:p.Asp96Gly missense NM_001407686.1:c.287A>G NP_001394615.1:p.Asp96Gly missense NM_001407687.1:c.287A>G NP_001394616.1:p.Asp96Gly missense NM_001407688.1:c.287A>G NP_001394617.1:p.Asp96Gly missense NM_001407689.1:c.287A>G NP_001394618.1:p.Asp96Gly missense NM_001407690.1:c.287A>G NP_001394619.1:p.Asp96Gly missense NM_001407691.1:c.287A>G NP_001394620.1:p.Asp96Gly missense NM_001407692.1:c.146A>G NP_001394621.1:p.Asp49Gly missense NM_001407694.1:c.146A>G NP_001394623.1:p.Asp49Gly missense NM_001407695.1:c.146A>G NP_001394624.1:p.Asp49Gly missense NM_001407696.1:c.146A>G NP_001394625.1:p.Asp49Gly missense NM_001407697.1:c.146A>G NP_001394626.1:p.Asp49Gly missense NM_001407698.1:c.146A>G NP_001394627.1:p.Asp49Gly missense NM_001407724.1:c.146A>G NP_001394653.1:p.Asp49Gly missense NM_001407725.1:c.146A>G NP_001394654.1:p.Asp49Gly missense NM_001407726.1:c.146A>G NP_001394655.1:p.Asp49Gly missense NM_001407727.1:c.146A>G NP_001394656.1:p.Asp49Gly missense NM_001407728.1:c.146A>G NP_001394657.1:p.Asp49Gly missense NM_001407729.1:c.146A>G NP_001394658.1:p.Asp49Gly missense NM_001407730.1:c.146A>G NP_001394659.1:p.Asp49Gly missense NM_001407731.1:c.146A>G NP_001394660.1:p.Asp49Gly missense NM_001407732.1:c.146A>G NP_001394661.1:p.Asp49Gly missense NM_001407733.1:c.146A>G NP_001394662.1:p.Asp49Gly missense NM_001407734.1:c.146A>G NP_001394663.1:p.Asp49Gly missense NM_001407735.1:c.146A>G NP_001394664.1:p.Asp49Gly missense NM_001407736.1:c.146A>G NP_001394665.1:p.Asp49Gly missense NM_001407737.1:c.146A>G NP_001394666.1:p.Asp49Gly missense NM_001407738.1:c.146A>G NP_001394667.1:p.Asp49Gly missense NM_001407739.1:c.146A>G NP_001394668.1:p.Asp49Gly missense NM_001407740.1:c.146A>G NP_001394669.1:p.Asp49Gly missense NM_001407741.1:c.146A>G NP_001394670.1:p.Asp49Gly missense NM_001407742.1:c.146A>G NP_001394671.1:p.Asp49Gly missense NM_001407743.1:c.146A>G NP_001394672.1:p.Asp49Gly missense NM_001407744.1:c.146A>G NP_001394673.1:p.Asp49Gly missense NM_001407745.1:c.146A>G NP_001394674.1:p.Asp49Gly missense NM_001407746.1:c.146A>G NP_001394675.1:p.Asp49Gly missense NM_001407747.1:c.146A>G NP_001394676.1:p.Asp49Gly missense NM_001407748.1:c.146A>G NP_001394677.1:p.Asp49Gly missense NM_001407749.1:c.146A>G NP_001394678.1:p.Asp49Gly missense NM_001407750.1:c.146A>G NP_001394679.1:p.Asp49Gly missense NM_001407751.1:c.146A>G NP_001394680.1:p.Asp49Gly missense NM_001407752.1:c.146A>G NP_001394681.1:p.Asp49Gly missense NM_001407838.1:c.146A>G NP_001394767.1:p.Asp49Gly missense NM_001407839.1:c.146A>G NP_001394768.1:p.Asp49Gly missense NM_001407841.1:c.146A>G NP_001394770.1:p.Asp49Gly missense NM_001407842.1:c.146A>G NP_001394771.1:p.Asp49Gly missense NM_001407843.1:c.146A>G NP_001394772.1:p.Asp49Gly missense NM_001407844.1:c.146A>G NP_001394773.1:p.Asp49Gly missense NM_001407845.1:c.146A>G NP_001394774.1:p.Asp49Gly missense NM_001407846.1:c.146A>G NP_001394775.1:p.Asp49Gly missense NM_001407847.1:c.146A>G NP_001394776.1:p.Asp49Gly missense NM_001407848.1:c.146A>G NP_001394777.1:p.Asp49Gly missense NM_001407849.1:c.146A>G NP_001394778.1:p.Asp49Gly missense NM_001407850.1:c.146A>G NP_001394779.1:p.Asp49Gly missense NM_001407851.1:c.146A>G NP_001394780.1:p.Asp49Gly missense NM_001407852.1:c.146A>G NP_001394781.1:p.Asp49Gly missense NM_001407853.1:c.77A>G NP_001394782.1:p.Asp26Gly missense NM_001407854.1:c.287A>G NP_001394783.1:p.Asp96Gly missense NM_001407858.1:c.287A>G NP_001394787.1:p.Asp96Gly missense NM_001407859.1:c.287A>G NP_001394788.1:p.Asp96Gly missense NM_001407860.1:c.287A>G NP_001394789.1:p.Asp96Gly missense NM_001407861.1:c.287A>G NP_001394790.1:p.Asp96Gly missense NM_001407862.1:c.209A>G NP_001394791.1:p.Asp70Gly missense NM_001407863.1:c.287A>G NP_001394792.1:p.Asp96Gly missense NM_001407874.1:c.209A>G NP_001394803.1:p.Asp70Gly missense NM_001407875.1:c.209A>G NP_001394804.1:p.Asp70Gly missense NM_001407879.1:c.77A>G NP_001394808.1:p.Asp26Gly missense NM_001407881.1:c.77A>G NP_001394810.1:p.Asp26Gly missense NM_001407882.1:c.77A>G NP_001394811.1:p.Asp26Gly missense NM_001407884.1:c.77A>G NP_001394813.1:p.Asp26Gly missense NM_001407885.1:c.77A>G NP_001394814.1:p.Asp26Gly missense NM_001407886.1:c.77A>G NP_001394815.1:p.Asp26Gly missense NM_001407887.1:c.77A>G NP_001394816.1:p.Asp26Gly missense NM_001407889.1:c.77A>G NP_001394818.1:p.Asp26Gly missense NM_001407894.1:c.77A>G NP_001394823.1:p.Asp26Gly missense NM_001407895.1:c.77A>G NP_001394824.1:p.Asp26Gly missense NM_001407896.1:c.77A>G NP_001394825.1:p.Asp26Gly missense NM_001407897.1:c.77A>G NP_001394826.1:p.Asp26Gly missense NM_001407898.1:c.77A>G NP_001394827.1:p.Asp26Gly missense NM_001407899.1:c.77A>G NP_001394828.1:p.Asp26Gly missense NM_001407900.1:c.77A>G NP_001394829.1:p.Asp26Gly missense NM_001407902.1:c.77A>G NP_001394831.1:p.Asp26Gly missense NM_001407904.1:c.77A>G NP_001394833.1:p.Asp26Gly missense NM_001407906.1:c.77A>G NP_001394835.1:p.Asp26Gly missense NM_001407907.1:c.77A>G NP_001394836.1:p.Asp26Gly missense NM_001407908.1:c.77A>G NP_001394837.1:p.Asp26Gly missense NM_001407909.1:c.77A>G NP_001394838.1:p.Asp26Gly missense NM_001407910.1:c.77A>G NP_001394839.1:p.Asp26Gly missense NM_001407915.1:c.77A>G NP_001394844.1:p.Asp26Gly missense NM_001407916.1:c.77A>G NP_001394845.1:p.Asp26Gly missense NM_001407917.1:c.77A>G NP_001394846.1:p.Asp26Gly missense NM_001407918.1:c.77A>G NP_001394847.1:p.Asp26Gly missense NM_001407919.1:c.287A>G NP_001394848.1:p.Asp96Gly missense NM_001407920.1:c.146A>G NP_001394849.1:p.Asp49Gly missense NM_001407921.1:c.146A>G NP_001394850.1:p.Asp49Gly missense NM_001407922.1:c.146A>G NP_001394851.1:p.Asp49Gly missense NM_001407923.1:c.146A>G NP_001394852.1:p.Asp49Gly missense NM_001407924.1:c.146A>G NP_001394853.1:p.Asp49Gly missense NM_001407925.1:c.146A>G NP_001394854.1:p.Asp49Gly missense NM_001407926.1:c.146A>G NP_001394855.1:p.Asp49Gly missense NM_001407927.1:c.146A>G NP_001394856.1:p.Asp49Gly missense NM_001407928.1:c.146A>G NP_001394857.1:p.Asp49Gly missense NM_001407929.1:c.146A>G NP_001394858.1:p.Asp49Gly missense NM_001407930.1:c.146A>G NP_001394859.1:p.Asp49Gly missense NM_001407931.1:c.146A>G NP_001394860.1:p.Asp49Gly missense NM_001407932.1:c.146A>G NP_001394861.1:p.Asp49Gly missense NM_001407933.1:c.146A>G NP_001394862.1:p.Asp49Gly missense NM_001407934.1:c.146A>G NP_001394863.1:p.Asp49Gly missense NM_001407935.1:c.146A>G NP_001394864.1:p.Asp49Gly missense NM_001407936.1:c.146A>G NP_001394865.1:p.Asp49Gly missense NM_001407937.1:c.287A>G NP_001394866.1:p.Asp96Gly missense NM_001407938.1:c.287A>G NP_001394867.1:p.Asp96Gly missense NM_001407939.1:c.287A>G NP_001394868.1:p.Asp96Gly missense NM_001407940.1:c.287A>G NP_001394869.1:p.Asp96Gly missense NM_001407941.1:c.287A>G NP_001394870.1:p.Asp96Gly missense NM_001407942.1:c.146A>G NP_001394871.1:p.Asp49Gly missense NM_001407943.1:c.146A>G NP_001394872.1:p.Asp49Gly missense NM_001407944.1:c.146A>G NP_001394873.1:p.Asp49Gly missense NM_001407945.1:c.146A>G NP_001394874.1:p.Asp49Gly missense NM_001407946.1:c.77A>G NP_001394875.1:p.Asp26Gly missense NM_001407947.1:c.77A>G NP_001394876.1:p.Asp26Gly missense NM_001407948.1:c.77A>G NP_001394877.1:p.Asp26Gly missense NM_001407949.1:c.77A>G NP_001394878.1:p.Asp26Gly missense NM_001407950.1:c.77A>G NP_001394879.1:p.Asp26Gly missense NM_001407951.1:c.77A>G NP_001394880.1:p.Asp26Gly missense NM_001407952.1:c.77A>G NP_001394881.1:p.Asp26Gly missense NM_001407953.1:c.77A>G NP_001394882.1:p.Asp26Gly missense NM_001407954.1:c.77A>G NP_001394883.1:p.Asp26Gly missense NM_001407955.1:c.77A>G NP_001394884.1:p.Asp26Gly missense NM_001407956.1:c.77A>G NP_001394885.1:p.Asp26Gly missense NM_001407957.1:c.77A>G NP_001394886.1:p.Asp26Gly missense NM_001407958.1:c.77A>G NP_001394887.1:p.Asp26Gly missense NM_001407959.1:c.-95A>G NM_001407960.1:c.-95A>G NM_001407962.1:c.-95A>G NM_001407963.1:c.-95A>G NM_001407964.1:c.146A>G NP_001394893.1:p.Asp49Gly missense NM_001407965.1:c.-95A>G NM_001407968.1:c.287A>G NP_001394897.1:p.Asp96Gly missense NM_001407969.1:c.287A>G NP_001394898.1:p.Asp96Gly missense NM_001407970.1:c.287A>G NP_001394899.1:p.Asp96Gly missense NM_001407971.1:c.287A>G NP_001394900.1:p.Asp96Gly missense NM_001407972.1:c.287A>G NP_001394901.1:p.Asp96Gly missense NM_001407973.1:c.287A>G NP_001394902.1:p.Asp96Gly missense NM_001407974.1:c.287A>G NP_001394903.1:p.Asp96Gly missense NM_001407975.1:c.287A>G NP_001394904.1:p.Asp96Gly missense NM_001407976.1:c.287A>G NP_001394905.1:p.Asp96Gly missense NM_001407977.1:c.287A>G NP_001394906.1:p.Asp96Gly missense NM_001407978.1:c.287A>G NP_001394907.1:p.Asp96Gly missense NM_001407979.1:c.287A>G NP_001394908.1:p.Asp96Gly missense NM_001407980.1:c.287A>G NP_001394909.1:p.Asp96Gly missense NM_001407981.1:c.287A>G NP_001394910.1:p.Asp96Gly missense NM_001407982.1:c.287A>G NP_001394911.1:p.Asp96Gly missense NM_001407983.1:c.287A>G NP_001394912.1:p.Asp96Gly missense NM_001407984.1:c.287A>G NP_001394913.1:p.Asp96Gly missense NM_001407985.1:c.287A>G NP_001394914.1:p.Asp96Gly missense NM_001407986.1:c.287A>G NP_001394915.1:p.Asp96Gly missense NM_001407990.1:c.287A>G NP_001394919.1:p.Asp96Gly missense NM_001407991.1:c.287A>G NP_001394920.1:p.Asp96Gly missense NM_001407992.1:c.287A>G NP_001394921.1:p.Asp96Gly missense NM_001407993.1:c.287A>G NP_001394922.1:p.Asp96Gly missense NM_001408392.1:c.287A>G NP_001395321.1:p.Asp96Gly missense NM_001408396.1:c.287A>G NP_001395325.1:p.Asp96Gly missense NM_001408397.1:c.287A>G NP_001395326.1:p.Asp96Gly missense NM_001408398.1:c.287A>G NP_001395327.1:p.Asp96Gly missense NM_001408399.1:c.287A>G NP_001395328.1:p.Asp96Gly missense NM_001408400.1:c.287A>G NP_001395329.1:p.Asp96Gly missense NM_001408401.1:c.287A>G NP_001395330.1:p.Asp96Gly missense NM_001408402.1:c.287A>G NP_001395331.1:p.Asp96Gly missense NM_001408403.1:c.287A>G NP_001395332.1:p.Asp96Gly missense NM_001408404.1:c.287A>G NP_001395333.1:p.Asp96Gly missense NM_001408406.1:c.287A>G NP_001395335.1:p.Asp96Gly missense NM_001408407.1:c.287A>G NP_001395336.1:p.Asp96Gly missense NM_001408408.1:c.287A>G NP_001395337.1:p.Asp96Gly missense NM_001408409.1:c.209A>G NP_001395338.1:p.Asp70Gly missense NM_001408410.1:c.146A>G NP_001395339.1:p.Asp49Gly missense NM_001408411.1:c.209A>G NP_001395340.1:p.Asp70Gly missense NM_001408412.1:c.209A>G NP_001395341.1:p.Asp70Gly missense NM_001408413.1:c.209A>G NP_001395342.1:p.Asp70Gly missense NM_001408414.1:c.209A>G NP_001395343.1:p.Asp70Gly missense NM_001408415.1:c.209A>G NP_001395344.1:p.Asp70Gly missense NM_001408416.1:c.209A>G NP_001395345.1:p.Asp70Gly missense NM_001408418.1:c.287A>G NP_001395347.1:p.Asp96Gly missense NM_001408419.1:c.287A>G NP_001395348.1:p.Asp96Gly missense NM_001408420.1:c.287A>G NP_001395349.1:p.Asp96Gly missense NM_001408421.1:c.287A>G NP_001395350.1:p.Asp96Gly missense NM_001408422.1:c.287A>G NP_001395351.1:p.Asp96Gly missense NM_001408423.1:c.287A>G NP_001395352.1:p.Asp96Gly missense NM_001408424.1:c.287A>G NP_001395353.1:p.Asp96Gly missense NM_001408425.1:c.287A>G NP_001395354.1:p.Asp96Gly missense NM_001408426.1:c.287A>G NP_001395355.1:p.Asp96Gly missense NM_001408427.1:c.287A>G NP_001395356.1:p.Asp96Gly missense NM_001408428.1:c.287A>G NP_001395357.1:p.Asp96Gly missense NM_001408429.1:c.287A>G NP_001395358.1:p.Asp96Gly missense NM_001408430.1:c.287A>G NP_001395359.1:p.Asp96Gly missense NM_001408431.1:c.287A>G NP_001395360.1:p.Asp96Gly missense NM_001408432.1:c.287A>G NP_001395361.1:p.Asp96Gly missense NM_001408433.1:c.287A>G NP_001395362.1:p.Asp96Gly missense NM_001408434.1:c.287A>G NP_001395363.1:p.Asp96Gly missense NM_001408435.1:c.287A>G NP_001395364.1:p.Asp96Gly missense NM_001408436.1:c.287A>G NP_001395365.1:p.Asp96Gly missense NM_001408437.1:c.287A>G NP_001395366.1:p.Asp96Gly missense NM_001408438.1:c.287A>G NP_001395367.1:p.Asp96Gly missense NM_001408439.1:c.287A>G NP_001395368.1:p.Asp96Gly missense NM_001408440.1:c.287A>G NP_001395369.1:p.Asp96Gly missense NM_001408441.1:c.287A>G NP_001395370.1:p.Asp96Gly missense NM_001408442.1:c.287A>G NP_001395371.1:p.Asp96Gly missense NM_001408443.1:c.287A>G NP_001395372.1:p.Asp96Gly missense NM_001408444.1:c.287A>G NP_001395373.1:p.Asp96Gly missense NM_001408445.1:c.287A>G NP_001395374.1:p.Asp96Gly missense NM_001408446.1:c.287A>G NP_001395375.1:p.Asp96Gly missense NM_001408447.1:c.287A>G NP_001395376.1:p.Asp96Gly missense NM_001408448.1:c.287A>G NP_001395377.1:p.Asp96Gly missense NM_001408450.1:c.287A>G NP_001395379.1:p.Asp96Gly missense NM_001408451.1:c.155A>G NP_001395380.1:p.Asp52Gly missense NM_001408452.1:c.146A>G NP_001395381.1:p.Asp49Gly missense NM_001408453.1:c.146A>G NP_001395382.1:p.Asp49Gly missense NM_001408454.1:c.146A>G NP_001395383.1:p.Asp49Gly missense NM_001408455.1:c.146A>G NP_001395384.1:p.Asp49Gly missense NM_001408456.1:c.146A>G NP_001395385.1:p.Asp49Gly missense NM_001408457.1:c.146A>G NP_001395386.1:p.Asp49Gly missense NM_001408458.1:c.146A>G NP_001395387.1:p.Asp49Gly missense NM_001408459.1:c.146A>G NP_001395388.1:p.Asp49Gly missense NM_001408460.1:c.146A>G NP_001395389.1:p.Asp49Gly missense NM_001408461.1:c.146A>G NP_001395390.1:p.Asp49Gly missense NM_001408462.1:c.146A>G NP_001395391.1:p.Asp49Gly missense NM_001408463.1:c.146A>G NP_001395392.1:p.Asp49Gly missense NM_001408464.1:c.146A>G NP_001395393.1:p.Asp49Gly missense NM_001408465.1:c.146A>G NP_001395394.1:p.Asp49Gly missense NM_001408466.1:c.146A>G NP_001395395.1:p.Asp49Gly missense NM_001408467.1:c.146A>G NP_001395396.1:p.Asp49Gly missense NM_001408468.1:c.146A>G NP_001395397.1:p.Asp49Gly missense NM_001408469.1:c.146A>G NP_001395398.1:p.Asp49Gly missense NM_001408470.1:c.146A>G NP_001395399.1:p.Asp49Gly missense NM_001408472.1:c.287A>G NP_001395401.1:p.Asp96Gly missense NM_001408473.1:c.287A>G NP_001395402.1:p.Asp96Gly missense NM_001408474.1:c.209A>G NP_001395403.1:p.Asp70Gly missense NM_001408475.1:c.209A>G NP_001395404.1:p.Asp70Gly missense NM_001408476.1:c.209A>G NP_001395405.1:p.Asp70Gly missense NM_001408478.1:c.77A>G NP_001395407.1:p.Asp26Gly missense NM_001408479.1:c.77A>G NP_001395408.1:p.Asp26Gly missense NM_001408480.1:c.77A>G NP_001395409.1:p.Asp26Gly missense NM_001408481.1:c.77A>G NP_001395410.1:p.Asp26Gly missense NM_001408482.1:c.77A>G NP_001395411.1:p.Asp26Gly missense NM_001408483.1:c.77A>G NP_001395412.1:p.Asp26Gly missense NM_001408484.1:c.77A>G NP_001395413.1:p.Asp26Gly missense NM_001408485.1:c.77A>G NP_001395414.1:p.Asp26Gly missense NM_001408489.1:c.77A>G NP_001395418.1:p.Asp26Gly missense NM_001408490.1:c.77A>G NP_001395419.1:p.Asp26Gly missense NM_001408491.1:c.77A>G NP_001395420.1:p.Asp26Gly missense NM_001408492.1:c.77A>G NP_001395421.1:p.Asp26Gly missense NM_001408493.1:c.77A>G NP_001395422.1:p.Asp26Gly missense NM_001408494.1:c.287A>G NP_001395423.1:p.Asp96Gly missense NM_001408495.1:c.287A>G NP_001395424.1:p.Asp96Gly missense NM_001408496.1:c.146A>G NP_001395425.1:p.Asp49Gly missense NM_001408497.1:c.146A>G NP_001395426.1:p.Asp49Gly missense NM_001408498.1:c.146A>G NP_001395427.1:p.Asp49Gly missense NM_001408499.1:c.146A>G NP_001395428.1:p.Asp49Gly missense NM_001408500.1:c.146A>G NP_001395429.1:p.Asp49Gly missense NM_001408501.1:c.146A>G NP_001395430.1:p.Asp49Gly missense NM_001408502.1:c.77A>G NP_001395431.1:p.Asp26Gly missense NM_001408503.1:c.146A>G NP_001395432.1:p.Asp49Gly missense NM_001408504.1:c.146A>G NP_001395433.1:p.Asp49Gly missense NM_001408505.1:c.146A>G NP_001395434.1:p.Asp49Gly missense NM_001408506.1:c.77A>G NP_001395435.1:p.Asp26Gly missense NM_001408507.1:c.77A>G NP_001395436.1:p.Asp26Gly missense NM_001408508.1:c.77A>G NP_001395437.1:p.Asp26Gly missense NM_001408509.1:c.77A>G NP_001395438.1:p.Asp26Gly missense NM_001408510.1:c.-95A>G NM_001408511.1:c.146A>G NP_001395440.1:p.Asp49Gly missense NM_001408512.1:c.-95A>G NM_001408513.1:c.77A>G NP_001395442.1:p.Asp26Gly missense NM_001408514.1:c.77A>G NP_001395443.1:p.Asp26Gly missense NM_007297.4:c.146A>G NP_009228.2:p.Asp49Gly missense NM_007298.4:c.287A>G NP_009229.2:p.Asp96Gly missense NM_007299.4:c.287A>G NP_009230.2:p.Asp96Gly missense NM_007300.4:c.287A>G NP_009231.2:p.Asp96Gly missense NM_007304.2:c.287A>G NP_009235.2:p.Asp96Gly missense NR_027676.2:n.467A>G non-coding transcript variant NC_000017.11:g.43104882T>C NC_000017.10:g.41256899T>C NG_005905.2:g.113102A>G LRG_292:g.113102A>G LRG_292t1:c.287A>G LRG_292p1:p.Asp96Gly - Protein change
- D96G, D49G, D52G, D26G, D70G
- Other names
- -
- Canonical SPDI
- NC_000017.11:43104881:T:C
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- functionally_abnormal Sequence Ontology [SO:0002218]
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.287A>G, a MISSENSE variant, produced a function score of -3, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. [submitted by Brotman Baty Institute, University of Washington]
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
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 |
12940 | 14730 |
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 pathogenic (1) |
criteria provided, single submitter
|
Aug 14, 2023 | RCV000203904.12 | |
Likely pathogenic (2) |
criteria provided, single submitter
|
Jun 12, 2023 | RCV001077807.4 | |
Pathogenic/Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Oct 13, 2021 | RCV001180532.6 | |
Likely pathogenic (1) |
criteria provided, single submitter
|
Apr 20, 2022 | RCV002500651.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
---|---|---|---|---|---|
Likely pathogenic
(May 20, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV001345475.2
First in ClinVar: Jun 22, 2020 Last updated: Jun 19, 2021 |
Comment:
This missense variant replaces aspartic acid with glycine at codon 96 in the RING domain of the BRCA1 protein. Computational prediction suggests that this variant … (more)
This missense variant replaces aspartic acid with glycine at codon 96 in the RING domain of the BRCA1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). Functional studies have reported this variant to be defective in ubiquitin E3 ligase, BARD1 binding and haploid cell proliferation assays (PMID: 25823446, 30209399). This variant has been reported in multiple unrelated individuals affected with ovarian or breast cancer, with family history of ovarian or breast cancer in the first-degree relatives (Clinvar accession ID: SCV000260660.3; communication with an external laboratory) . This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Likely Pathogenic. (less)
|
|
Likely pathogenic
(Aug 14, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000260660.8
First in ClinVar: Feb 02, 2016 Last updated: Feb 20, 2024 |
Comment:
In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has … (more)
In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this missense change affects BRCA1 function (PMID: 30209399). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is expected to disrupt BRCA1 function. ClinVar contains an entry for this variant (Variation ID: 220258). This missense change has been observed in individual(s) with breast and/or ovarian cancer (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 96 of the BRCA1 protein (p.Asp96Gly). (less)
|
|
Likely pathogenic
(Apr 20, 2022)
|
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: SCV002810327.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
|
|
Likely pathogenic
(Jun 12, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Myriad Genetics, Inc.
Accession: SCV004018672.1
First in ClinVar: Jul 29, 2023 Last updated: Jul 29, 2023 |
Comment:
This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 30209399, 35659930]. This variant is expected to disrupt protein structure … (more)
This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 30209399, 35659930]. This variant is expected to disrupt protein structure [Myriad internal data]. (less)
|
|
Pathogenic
(Oct 13, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV002749569.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The p.D96G variant (also known as c.287A>G), located in coding exon 4 of the BRCA1 gene, results from an A to G substitution at nucleotide … (more)
The p.D96G variant (also known as c.287A>G), located in coding exon 4 of the BRCA1 gene, results from an A to G substitution at nucleotide position 287. The aspartic acid at codon 96 is replaced by glycine, an amino acid with similar properties. One functional study found that this nucleotide substitution is non-functional in a high-throughput, genome editing, haploid cell survival assay (Findlay GM et al. Nature, 2018 10;562:217-222). Additional alterations at the same codon have also been found to cause loss of function and have been detected in individuals with breast and/or ovarian cancer (Findlay GM et al. Nature, 2018 10;562:217-222; Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation. (less)
|
|
not provided
(-)
|
no classification provided
Method: in vitro
|
Breast-ovarian cancer, familial 1
Affected status: not applicable
Allele origin:
not applicable
|
Brotman Baty Institute, University of Washington
Accession: SCV001243794.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
LOSS_OF_FUNCTION:-3.00243211698934
|
Germline Functional Evidence
Functional
Help
The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
Help
A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
Help
A brief description of the result of this method for this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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functionally_abnormal
|
Method citation(s):
|
|
Brotman Baty Institute, University of Washington
Accession: SCV001243794.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.287A>G, a MISSENSE variant, produced a function score of -3, corresponding to a functional classification of LOSS_OF_FUNCTION. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.287A>G, a MISSENSE variant, produced a function score of -3, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. (less)
|
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions. | Clark KA | American journal of human genetics | 2022 | PMID: 35659930 |
Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
Text-mined citations for rs864622444 ...
HelpRecord last updated Jul 15, 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.