ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.289A>G (p.Thr97Ala)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Uncertain significance(1); Likely benign(1)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.289A>G (p.Thr97Ala)
Variation ID: 441379 Accession: VCV000441379.8
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43104880 (GRCh38) [ NCBI UCSC ] 17: 41256897 (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 Oct 23, 2017 Nov 24, 2024 Apr 12, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.289A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Thr97Ala missense NM_001407571.1:c.79A>G NP_001394500.1:p.Thr27Ala missense NM_001407581.1:c.289A>G NP_001394510.1:p.Thr97Ala missense NM_001407582.1:c.289A>G NP_001394511.1:p.Thr97Ala missense NM_001407583.1:c.289A>G NP_001394512.1:p.Thr97Ala missense NM_001407585.1:c.289A>G NP_001394514.1:p.Thr97Ala missense NM_001407587.1:c.289A>G NP_001394516.1:p.Thr97Ala missense NM_001407590.1:c.289A>G NP_001394519.1:p.Thr97Ala missense NM_001407591.1:c.289A>G NP_001394520.1:p.Thr97Ala missense NM_001407593.1:c.289A>G NP_001394522.1:p.Thr97Ala missense NM_001407594.1:c.289A>G NP_001394523.1:p.Thr97Ala missense NM_001407596.1:c.289A>G NP_001394525.1:p.Thr97Ala missense NM_001407597.1:c.289A>G NP_001394526.1:p.Thr97Ala missense NM_001407598.1:c.289A>G NP_001394527.1:p.Thr97Ala missense NM_001407602.1:c.289A>G NP_001394531.1:p.Thr97Ala missense NM_001407603.1:c.289A>G NP_001394532.1:p.Thr97Ala missense NM_001407605.1:c.289A>G NP_001394534.1:p.Thr97Ala missense NM_001407610.1:c.289A>G NP_001394539.1:p.Thr97Ala missense NM_001407611.1:c.289A>G NP_001394540.1:p.Thr97Ala missense NM_001407612.1:c.289A>G NP_001394541.1:p.Thr97Ala missense NM_001407613.1:c.289A>G NP_001394542.1:p.Thr97Ala missense NM_001407614.1:c.289A>G NP_001394543.1:p.Thr97Ala missense NM_001407615.1:c.289A>G NP_001394544.1:p.Thr97Ala missense NM_001407616.1:c.289A>G NP_001394545.1:p.Thr97Ala missense NM_001407617.1:c.289A>G NP_001394546.1:p.Thr97Ala missense NM_001407618.1:c.289A>G NP_001394547.1:p.Thr97Ala missense NM_001407619.1:c.289A>G NP_001394548.1:p.Thr97Ala missense NM_001407620.1:c.289A>G NP_001394549.1:p.Thr97Ala missense NM_001407621.1:c.289A>G NP_001394550.1:p.Thr97Ala missense NM_001407622.1:c.289A>G NP_001394551.1:p.Thr97Ala missense NM_001407623.1:c.289A>G NP_001394552.1:p.Thr97Ala missense NM_001407624.1:c.289A>G NP_001394553.1:p.Thr97Ala missense NM_001407625.1:c.289A>G NP_001394554.1:p.Thr97Ala missense NM_001407626.1:c.289A>G NP_001394555.1:p.Thr97Ala missense NM_001407627.1:c.289A>G NP_001394556.1:p.Thr97Ala missense NM_001407628.1:c.289A>G NP_001394557.1:p.Thr97Ala missense NM_001407629.1:c.289A>G NP_001394558.1:p.Thr97Ala missense NM_001407630.1:c.289A>G NP_001394559.1:p.Thr97Ala missense NM_001407631.1:c.289A>G NP_001394560.1:p.Thr97Ala missense NM_001407632.1:c.289A>G NP_001394561.1:p.Thr97Ala missense NM_001407633.1:c.289A>G NP_001394562.1:p.Thr97Ala missense NM_001407634.1:c.289A>G NP_001394563.1:p.Thr97Ala missense NM_001407635.1:c.289A>G NP_001394564.1:p.Thr97Ala missense NM_001407636.1:c.289A>G NP_001394565.1:p.Thr97Ala missense NM_001407637.1:c.289A>G NP_001394566.1:p.Thr97Ala missense NM_001407638.1:c.289A>G NP_001394567.1:p.Thr97Ala missense NM_001407639.1:c.289A>G NP_001394568.1:p.Thr97Ala missense NM_001407640.1:c.289A>G NP_001394569.1:p.Thr97Ala missense NM_001407641.1:c.289A>G NP_001394570.1:p.Thr97Ala missense NM_001407642.1:c.289A>G NP_001394571.1:p.Thr97Ala missense NM_001407644.1:c.289A>G NP_001394573.1:p.Thr97Ala missense NM_001407645.1:c.289A>G NP_001394574.1:p.Thr97Ala missense NM_001407646.1:c.289A>G NP_001394575.1:p.Thr97Ala missense NM_001407647.1:c.289A>G NP_001394576.1:p.Thr97Ala missense NM_001407648.1:c.289A>G NP_001394577.1:p.Thr97Ala missense NM_001407649.1:c.289A>G NP_001394578.1:p.Thr97Ala missense NM_001407652.1:c.289A>G NP_001394581.1:p.Thr97Ala missense NM_001407653.1:c.211A>G NP_001394582.1:p.Thr71Ala missense NM_001407654.1:c.211A>G NP_001394583.1:p.Thr71Ala missense NM_001407655.1:c.211A>G NP_001394584.1:p.Thr71Ala missense NM_001407656.1:c.211A>G NP_001394585.1:p.Thr71Ala missense NM_001407657.1:c.211A>G NP_001394586.1:p.Thr71Ala missense NM_001407658.1:c.211A>G NP_001394587.1:p.Thr71Ala missense NM_001407659.1:c.211A>G NP_001394588.1:p.Thr71Ala missense NM_001407660.1:c.211A>G NP_001394589.1:p.Thr71Ala missense NM_001407661.1:c.211A>G NP_001394590.1:p.Thr71Ala missense NM_001407662.1:c.211A>G NP_001394591.1:p.Thr71Ala missense NM_001407663.1:c.211A>G NP_001394592.1:p.Thr71Ala missense NM_001407664.1:c.289A>G NP_001394593.1:p.Thr97Ala missense NM_001407665.1:c.289A>G NP_001394594.1:p.Thr97Ala missense NM_001407666.1:c.289A>G NP_001394595.1:p.Thr97Ala missense NM_001407667.1:c.289A>G NP_001394596.1:p.Thr97Ala missense NM_001407668.1:c.289A>G NP_001394597.1:p.Thr97Ala missense NM_001407669.1:c.289A>G NP_001394598.1:p.Thr97Ala missense NM_001407670.1:c.289A>G NP_001394599.1:p.Thr97Ala missense NM_001407671.1:c.289A>G NP_001394600.1:p.Thr97Ala missense NM_001407672.1:c.289A>G NP_001394601.1:p.Thr97Ala missense NM_001407673.1:c.289A>G NP_001394602.1:p.Thr97Ala missense NM_001407674.1:c.289A>G NP_001394603.1:p.Thr97Ala missense NM_001407675.1:c.289A>G NP_001394604.1:p.Thr97Ala missense NM_001407676.1:c.289A>G NP_001394605.1:p.Thr97Ala missense NM_001407677.1:c.289A>G NP_001394606.1:p.Thr97Ala missense NM_001407678.1:c.289A>G NP_001394607.1:p.Thr97Ala missense NM_001407679.1:c.289A>G NP_001394608.1:p.Thr97Ala missense NM_001407680.1:c.289A>G NP_001394609.1:p.Thr97Ala missense NM_001407681.1:c.289A>G NP_001394610.1:p.Thr97Ala missense NM_001407682.1:c.289A>G NP_001394611.1:p.Thr97Ala missense NM_001407683.1:c.289A>G NP_001394612.1:p.Thr97Ala missense NM_001407684.1:c.289A>G NP_001394613.1:p.Thr97Ala missense NM_001407685.1:c.289A>G NP_001394614.1:p.Thr97Ala missense NM_001407686.1:c.289A>G NP_001394615.1:p.Thr97Ala missense NM_001407687.1:c.289A>G NP_001394616.1:p.Thr97Ala missense NM_001407688.1:c.289A>G NP_001394617.1:p.Thr97Ala missense NM_001407689.1:c.289A>G NP_001394618.1:p.Thr97Ala missense NM_001407690.1:c.289A>G NP_001394619.1:p.Thr97Ala missense NM_001407691.1:c.289A>G NP_001394620.1:p.Thr97Ala missense NM_001407692.1:c.148A>G NP_001394621.1:p.Thr50Ala missense NM_001407694.1:c.148A>G NP_001394623.1:p.Thr50Ala missense NM_001407695.1:c.148A>G NP_001394624.1:p.Thr50Ala missense NM_001407696.1:c.148A>G NP_001394625.1:p.Thr50Ala missense NM_001407697.1:c.148A>G NP_001394626.1:p.Thr50Ala missense NM_001407698.1:c.148A>G NP_001394627.1:p.Thr50Ala missense NM_001407724.1:c.148A>G NP_001394653.1:p.Thr50Ala missense NM_001407725.1:c.148A>G NP_001394654.1:p.Thr50Ala missense NM_001407726.1:c.148A>G NP_001394655.1:p.Thr50Ala missense NM_001407727.1:c.148A>G NP_001394656.1:p.Thr50Ala missense NM_001407728.1:c.148A>G NP_001394657.1:p.Thr50Ala missense NM_001407729.1:c.148A>G NP_001394658.1:p.Thr50Ala missense NM_001407730.1:c.148A>G NP_001394659.1:p.Thr50Ala missense NM_001407731.1:c.148A>G NP_001394660.1:p.Thr50Ala missense NM_001407732.1:c.148A>G NP_001394661.1:p.Thr50Ala missense NM_001407733.1:c.148A>G NP_001394662.1:p.Thr50Ala missense NM_001407734.1:c.148A>G NP_001394663.1:p.Thr50Ala missense NM_001407735.1:c.148A>G NP_001394664.1:p.Thr50Ala missense NM_001407736.1:c.148A>G NP_001394665.1:p.Thr50Ala missense NM_001407737.1:c.148A>G NP_001394666.1:p.Thr50Ala missense NM_001407738.1:c.148A>G NP_001394667.1:p.Thr50Ala missense NM_001407739.1:c.148A>G NP_001394668.1:p.Thr50Ala missense NM_001407740.1:c.148A>G NP_001394669.1:p.Thr50Ala missense NM_001407741.1:c.148A>G NP_001394670.1:p.Thr50Ala missense NM_001407742.1:c.148A>G NP_001394671.1:p.Thr50Ala missense NM_001407743.1:c.148A>G NP_001394672.1:p.Thr50Ala missense NM_001407744.1:c.148A>G NP_001394673.1:p.Thr50Ala missense NM_001407745.1:c.148A>G NP_001394674.1:p.Thr50Ala missense NM_001407746.1:c.148A>G NP_001394675.1:p.Thr50Ala missense NM_001407747.1:c.148A>G NP_001394676.1:p.Thr50Ala missense NM_001407748.1:c.148A>G NP_001394677.1:p.Thr50Ala missense NM_001407749.1:c.148A>G NP_001394678.1:p.Thr50Ala missense NM_001407750.1:c.148A>G NP_001394679.1:p.Thr50Ala missense NM_001407751.1:c.148A>G NP_001394680.1:p.Thr50Ala missense NM_001407752.1:c.148A>G NP_001394681.1:p.Thr50Ala missense NM_001407838.1:c.148A>G NP_001394767.1:p.Thr50Ala missense NM_001407839.1:c.148A>G NP_001394768.1:p.Thr50Ala missense NM_001407841.1:c.148A>G NP_001394770.1:p.Thr50Ala missense NM_001407842.1:c.148A>G NP_001394771.1:p.Thr50Ala missense NM_001407843.1:c.148A>G NP_001394772.1:p.Thr50Ala missense NM_001407844.1:c.148A>G NP_001394773.1:p.Thr50Ala missense NM_001407845.1:c.148A>G NP_001394774.1:p.Thr50Ala missense NM_001407846.1:c.148A>G NP_001394775.1:p.Thr50Ala missense NM_001407847.1:c.148A>G NP_001394776.1:p.Thr50Ala missense NM_001407848.1:c.148A>G NP_001394777.1:p.Thr50Ala missense NM_001407849.1:c.148A>G NP_001394778.1:p.Thr50Ala missense NM_001407850.1:c.148A>G NP_001394779.1:p.Thr50Ala missense NM_001407851.1:c.148A>G NP_001394780.1:p.Thr50Ala missense NM_001407852.1:c.148A>G NP_001394781.1:p.Thr50Ala missense NM_001407853.1:c.79A>G NP_001394782.1:p.Thr27Ala missense NM_001407854.1:c.289A>G NP_001394783.1:p.Thr97Ala missense NM_001407858.1:c.289A>G NP_001394787.1:p.Thr97Ala missense NM_001407859.1:c.289A>G NP_001394788.1:p.Thr97Ala missense NM_001407860.1:c.289A>G NP_001394789.1:p.Thr97Ala missense NM_001407861.1:c.289A>G NP_001394790.1:p.Thr97Ala missense NM_001407862.1:c.211A>G NP_001394791.1:p.Thr71Ala missense NM_001407863.1:c.289A>G NP_001394792.1:p.Thr97Ala missense NM_001407874.1:c.211A>G NP_001394803.1:p.Thr71Ala missense NM_001407875.1:c.211A>G NP_001394804.1:p.Thr71Ala missense NM_001407879.1:c.79A>G NP_001394808.1:p.Thr27Ala missense NM_001407881.1:c.79A>G NP_001394810.1:p.Thr27Ala missense NM_001407882.1:c.79A>G NP_001394811.1:p.Thr27Ala missense NM_001407884.1:c.79A>G NP_001394813.1:p.Thr27Ala missense NM_001407885.1:c.79A>G NP_001394814.1:p.Thr27Ala missense NM_001407886.1:c.79A>G NP_001394815.1:p.Thr27Ala missense NM_001407887.1:c.79A>G NP_001394816.1:p.Thr27Ala missense NM_001407889.1:c.79A>G NP_001394818.1:p.Thr27Ala missense NM_001407894.1:c.79A>G NP_001394823.1:p.Thr27Ala missense NM_001407895.1:c.79A>G NP_001394824.1:p.Thr27Ala missense NM_001407896.1:c.79A>G NP_001394825.1:p.Thr27Ala missense NM_001407897.1:c.79A>G NP_001394826.1:p.Thr27Ala missense NM_001407898.1:c.79A>G NP_001394827.1:p.Thr27Ala missense NM_001407899.1:c.79A>G NP_001394828.1:p.Thr27Ala missense NM_001407900.1:c.79A>G NP_001394829.1:p.Thr27Ala missense NM_001407902.1:c.79A>G NP_001394831.1:p.Thr27Ala missense NM_001407904.1:c.79A>G NP_001394833.1:p.Thr27Ala missense NM_001407906.1:c.79A>G NP_001394835.1:p.Thr27Ala missense NM_001407907.1:c.79A>G NP_001394836.1:p.Thr27Ala missense NM_001407908.1:c.79A>G NP_001394837.1:p.Thr27Ala missense NM_001407909.1:c.79A>G NP_001394838.1:p.Thr27Ala missense NM_001407910.1:c.79A>G NP_001394839.1:p.Thr27Ala missense NM_001407915.1:c.79A>G NP_001394844.1:p.Thr27Ala missense NM_001407916.1:c.79A>G NP_001394845.1:p.Thr27Ala missense NM_001407917.1:c.79A>G NP_001394846.1:p.Thr27Ala missense NM_001407918.1:c.79A>G NP_001394847.1:p.Thr27Ala missense NM_001407919.1:c.289A>G NP_001394848.1:p.Thr97Ala missense NM_001407920.1:c.148A>G NP_001394849.1:p.Thr50Ala missense NM_001407921.1:c.148A>G NP_001394850.1:p.Thr50Ala missense NM_001407922.1:c.148A>G NP_001394851.1:p.Thr50Ala missense NM_001407923.1:c.148A>G NP_001394852.1:p.Thr50Ala missense NM_001407924.1:c.148A>G NP_001394853.1:p.Thr50Ala missense NM_001407925.1:c.148A>G NP_001394854.1:p.Thr50Ala missense NM_001407926.1:c.148A>G NP_001394855.1:p.Thr50Ala missense NM_001407927.1:c.148A>G NP_001394856.1:p.Thr50Ala missense NM_001407928.1:c.148A>G NP_001394857.1:p.Thr50Ala missense NM_001407929.1:c.148A>G NP_001394858.1:p.Thr50Ala missense NM_001407930.1:c.148A>G NP_001394859.1:p.Thr50Ala missense NM_001407931.1:c.148A>G NP_001394860.1:p.Thr50Ala missense NM_001407932.1:c.148A>G NP_001394861.1:p.Thr50Ala missense NM_001407933.1:c.148A>G NP_001394862.1:p.Thr50Ala missense NM_001407934.1:c.148A>G NP_001394863.1:p.Thr50Ala missense NM_001407935.1:c.148A>G NP_001394864.1:p.Thr50Ala missense NM_001407936.1:c.148A>G NP_001394865.1:p.Thr50Ala missense NM_001407937.1:c.289A>G NP_001394866.1:p.Thr97Ala missense NM_001407938.1:c.289A>G NP_001394867.1:p.Thr97Ala missense NM_001407939.1:c.289A>G NP_001394868.1:p.Thr97Ala missense NM_001407940.1:c.289A>G NP_001394869.1:p.Thr97Ala missense NM_001407941.1:c.289A>G NP_001394870.1:p.Thr97Ala missense NM_001407942.1:c.148A>G NP_001394871.1:p.Thr50Ala missense NM_001407943.1:c.148A>G NP_001394872.1:p.Thr50Ala missense NM_001407944.1:c.148A>G NP_001394873.1:p.Thr50Ala missense NM_001407945.1:c.148A>G NP_001394874.1:p.Thr50Ala missense NM_001407946.1:c.79A>G NP_001394875.1:p.Thr27Ala missense NM_001407947.1:c.79A>G NP_001394876.1:p.Thr27Ala missense NM_001407948.1:c.79A>G NP_001394877.1:p.Thr27Ala missense NM_001407949.1:c.79A>G NP_001394878.1:p.Thr27Ala missense NM_001407950.1:c.79A>G NP_001394879.1:p.Thr27Ala missense NM_001407951.1:c.79A>G NP_001394880.1:p.Thr27Ala missense NM_001407952.1:c.79A>G NP_001394881.1:p.Thr27Ala missense NM_001407953.1:c.79A>G NP_001394882.1:p.Thr27Ala missense NM_001407954.1:c.79A>G NP_001394883.1:p.Thr27Ala missense NM_001407955.1:c.79A>G NP_001394884.1:p.Thr27Ala missense NM_001407956.1:c.79A>G NP_001394885.1:p.Thr27Ala missense NM_001407957.1:c.79A>G NP_001394886.1:p.Thr27Ala missense NM_001407958.1:c.79A>G NP_001394887.1:p.Thr27Ala missense NM_001407959.1:c.-93A>G NM_001407960.1:c.-93A>G NM_001407962.1:c.-93A>G NM_001407963.1:c.-93A>G NM_001407964.1:c.148A>G NP_001394893.1:p.Thr50Ala missense NM_001407965.1:c.-93A>G NM_001407968.1:c.289A>G NP_001394897.1:p.Thr97Ala missense NM_001407969.1:c.289A>G NP_001394898.1:p.Thr97Ala missense NM_001407970.1:c.289A>G NP_001394899.1:p.Thr97Ala missense NM_001407971.1:c.289A>G NP_001394900.1:p.Thr97Ala missense NM_001407972.1:c.289A>G NP_001394901.1:p.Thr97Ala missense NM_001407973.1:c.289A>G NP_001394902.1:p.Thr97Ala missense NM_001407974.1:c.289A>G NP_001394903.1:p.Thr97Ala missense NM_001407975.1:c.289A>G NP_001394904.1:p.Thr97Ala missense NM_001407976.1:c.289A>G NP_001394905.1:p.Thr97Ala missense NM_001407977.1:c.289A>G NP_001394906.1:p.Thr97Ala missense NM_001407978.1:c.289A>G NP_001394907.1:p.Thr97Ala missense NM_001407979.1:c.289A>G NP_001394908.1:p.Thr97Ala missense NM_001407980.1:c.289A>G NP_001394909.1:p.Thr97Ala missense NM_001407981.1:c.289A>G NP_001394910.1:p.Thr97Ala missense NM_001407982.1:c.289A>G NP_001394911.1:p.Thr97Ala missense NM_001407983.1:c.289A>G NP_001394912.1:p.Thr97Ala missense NM_001407984.1:c.289A>G NP_001394913.1:p.Thr97Ala missense NM_001407985.1:c.289A>G NP_001394914.1:p.Thr97Ala missense NM_001407986.1:c.289A>G NP_001394915.1:p.Thr97Ala missense NM_001407990.1:c.289A>G NP_001394919.1:p.Thr97Ala missense NM_001407991.1:c.289A>G NP_001394920.1:p.Thr97Ala missense NM_001407992.1:c.289A>G NP_001394921.1:p.Thr97Ala missense NM_001407993.1:c.289A>G NP_001394922.1:p.Thr97Ala missense NM_001408392.1:c.289A>G NP_001395321.1:p.Thr97Ala missense NM_001408396.1:c.289A>G NP_001395325.1:p.Thr97Ala missense NM_001408397.1:c.289A>G NP_001395326.1:p.Thr97Ala missense NM_001408398.1:c.289A>G NP_001395327.1:p.Thr97Ala missense NM_001408399.1:c.289A>G NP_001395328.1:p.Thr97Ala missense NM_001408400.1:c.289A>G NP_001395329.1:p.Thr97Ala missense NM_001408401.1:c.289A>G NP_001395330.1:p.Thr97Ala missense NM_001408402.1:c.289A>G NP_001395331.1:p.Thr97Ala missense NM_001408403.1:c.289A>G NP_001395332.1:p.Thr97Ala missense NM_001408404.1:c.289A>G NP_001395333.1:p.Thr97Ala missense NM_001408406.1:c.289A>G NP_001395335.1:p.Thr97Ala missense NM_001408407.1:c.289A>G NP_001395336.1:p.Thr97Ala missense NM_001408408.1:c.289A>G NP_001395337.1:p.Thr97Ala missense NM_001408409.1:c.211A>G NP_001395338.1:p.Thr71Ala missense NM_001408410.1:c.148A>G NP_001395339.1:p.Thr50Ala missense NM_001408411.1:c.211A>G NP_001395340.1:p.Thr71Ala missense NM_001408412.1:c.211A>G NP_001395341.1:p.Thr71Ala missense NM_001408413.1:c.211A>G NP_001395342.1:p.Thr71Ala missense NM_001408414.1:c.211A>G NP_001395343.1:p.Thr71Ala missense NM_001408415.1:c.211A>G NP_001395344.1:p.Thr71Ala missense NM_001408416.1:c.211A>G NP_001395345.1:p.Thr71Ala missense NM_001408418.1:c.289A>G NP_001395347.1:p.Thr97Ala missense NM_001408419.1:c.289A>G NP_001395348.1:p.Thr97Ala missense NM_001408420.1:c.289A>G NP_001395349.1:p.Thr97Ala missense NM_001408421.1:c.289A>G NP_001395350.1:p.Thr97Ala missense NM_001408422.1:c.289A>G NP_001395351.1:p.Thr97Ala missense NM_001408423.1:c.289A>G NP_001395352.1:p.Thr97Ala missense NM_001408424.1:c.289A>G NP_001395353.1:p.Thr97Ala missense NM_001408425.1:c.289A>G NP_001395354.1:p.Thr97Ala missense NM_001408426.1:c.289A>G NP_001395355.1:p.Thr97Ala missense NM_001408427.1:c.289A>G NP_001395356.1:p.Thr97Ala missense NM_001408428.1:c.289A>G NP_001395357.1:p.Thr97Ala missense NM_001408429.1:c.289A>G NP_001395358.1:p.Thr97Ala missense NM_001408430.1:c.289A>G NP_001395359.1:p.Thr97Ala missense NM_001408431.1:c.289A>G NP_001395360.1:p.Thr97Ala missense NM_001408432.1:c.289A>G NP_001395361.1:p.Thr97Ala missense NM_001408433.1:c.289A>G NP_001395362.1:p.Thr97Ala missense NM_001408434.1:c.289A>G NP_001395363.1:p.Thr97Ala missense NM_001408435.1:c.289A>G NP_001395364.1:p.Thr97Ala missense NM_001408436.1:c.289A>G NP_001395365.1:p.Thr97Ala missense NM_001408437.1:c.289A>G NP_001395366.1:p.Thr97Ala missense NM_001408438.1:c.289A>G NP_001395367.1:p.Thr97Ala missense NM_001408439.1:c.289A>G NP_001395368.1:p.Thr97Ala missense NM_001408440.1:c.289A>G NP_001395369.1:p.Thr97Ala missense NM_001408441.1:c.289A>G NP_001395370.1:p.Thr97Ala missense NM_001408442.1:c.289A>G NP_001395371.1:p.Thr97Ala missense NM_001408443.1:c.289A>G NP_001395372.1:p.Thr97Ala missense NM_001408444.1:c.289A>G NP_001395373.1:p.Thr97Ala missense NM_001408445.1:c.289A>G NP_001395374.1:p.Thr97Ala missense NM_001408446.1:c.289A>G NP_001395375.1:p.Thr97Ala missense NM_001408447.1:c.289A>G NP_001395376.1:p.Thr97Ala missense NM_001408448.1:c.289A>G NP_001395377.1:p.Thr97Ala missense NM_001408450.1:c.289A>G NP_001395379.1:p.Thr97Ala missense NM_001408451.1:c.157A>G NP_001395380.1:p.Thr53Ala missense NM_001408452.1:c.148A>G NP_001395381.1:p.Thr50Ala missense NM_001408453.1:c.148A>G NP_001395382.1:p.Thr50Ala missense NM_001408454.1:c.148A>G NP_001395383.1:p.Thr50Ala missense NM_001408455.1:c.148A>G NP_001395384.1:p.Thr50Ala missense NM_001408456.1:c.148A>G NP_001395385.1:p.Thr50Ala missense NM_001408457.1:c.148A>G NP_001395386.1:p.Thr50Ala missense NM_001408458.1:c.148A>G NP_001395387.1:p.Thr50Ala missense NM_001408459.1:c.148A>G NP_001395388.1:p.Thr50Ala missense NM_001408460.1:c.148A>G NP_001395389.1:p.Thr50Ala missense NM_001408461.1:c.148A>G NP_001395390.1:p.Thr50Ala missense NM_001408462.1:c.148A>G NP_001395391.1:p.Thr50Ala missense NM_001408463.1:c.148A>G NP_001395392.1:p.Thr50Ala missense NM_001408464.1:c.148A>G NP_001395393.1:p.Thr50Ala missense NM_001408465.1:c.148A>G NP_001395394.1:p.Thr50Ala missense NM_001408466.1:c.148A>G NP_001395395.1:p.Thr50Ala missense NM_001408467.1:c.148A>G NP_001395396.1:p.Thr50Ala missense NM_001408468.1:c.148A>G NP_001395397.1:p.Thr50Ala missense NM_001408469.1:c.148A>G NP_001395398.1:p.Thr50Ala missense NM_001408470.1:c.148A>G NP_001395399.1:p.Thr50Ala missense NM_001408472.1:c.289A>G NP_001395401.1:p.Thr97Ala missense NM_001408473.1:c.289A>G NP_001395402.1:p.Thr97Ala missense NM_001408474.1:c.211A>G NP_001395403.1:p.Thr71Ala missense NM_001408475.1:c.211A>G NP_001395404.1:p.Thr71Ala missense NM_001408476.1:c.211A>G NP_001395405.1:p.Thr71Ala missense NM_001408478.1:c.79A>G NP_001395407.1:p.Thr27Ala missense NM_001408479.1:c.79A>G NP_001395408.1:p.Thr27Ala missense NM_001408480.1:c.79A>G NP_001395409.1:p.Thr27Ala missense NM_001408481.1:c.79A>G NP_001395410.1:p.Thr27Ala missense NM_001408482.1:c.79A>G NP_001395411.1:p.Thr27Ala missense NM_001408483.1:c.79A>G NP_001395412.1:p.Thr27Ala missense NM_001408484.1:c.79A>G NP_001395413.1:p.Thr27Ala missense NM_001408485.1:c.79A>G NP_001395414.1:p.Thr27Ala missense NM_001408489.1:c.79A>G NP_001395418.1:p.Thr27Ala missense NM_001408490.1:c.79A>G NP_001395419.1:p.Thr27Ala missense NM_001408491.1:c.79A>G NP_001395420.1:p.Thr27Ala missense NM_001408492.1:c.79A>G NP_001395421.1:p.Thr27Ala missense NM_001408493.1:c.79A>G NP_001395422.1:p.Thr27Ala missense NM_001408494.1:c.289A>G NP_001395423.1:p.Thr97Ala missense NM_001408495.1:c.289A>G NP_001395424.1:p.Thr97Ala missense NM_001408496.1:c.148A>G NP_001395425.1:p.Thr50Ala missense NM_001408497.1:c.148A>G NP_001395426.1:p.Thr50Ala missense NM_001408498.1:c.148A>G NP_001395427.1:p.Thr50Ala missense NM_001408499.1:c.148A>G NP_001395428.1:p.Thr50Ala missense NM_001408500.1:c.148A>G NP_001395429.1:p.Thr50Ala missense NM_001408501.1:c.148A>G NP_001395430.1:p.Thr50Ala missense NM_001408502.1:c.79A>G NP_001395431.1:p.Thr27Ala missense NM_001408503.1:c.148A>G NP_001395432.1:p.Thr50Ala missense NM_001408504.1:c.148A>G NP_001395433.1:p.Thr50Ala missense NM_001408505.1:c.148A>G NP_001395434.1:p.Thr50Ala missense NM_001408506.1:c.79A>G NP_001395435.1:p.Thr27Ala missense NM_001408507.1:c.79A>G NP_001395436.1:p.Thr27Ala missense NM_001408508.1:c.79A>G NP_001395437.1:p.Thr27Ala missense NM_001408509.1:c.79A>G NP_001395438.1:p.Thr27Ala missense NM_001408510.1:c.-93A>G NM_001408511.1:c.148A>G NP_001395440.1:p.Thr50Ala missense NM_001408512.1:c.-93A>G NM_001408513.1:c.79A>G NP_001395442.1:p.Thr27Ala missense NM_001408514.1:c.79A>G NP_001395443.1:p.Thr27Ala missense NM_007297.4:c.148A>G NP_009228.2:p.Thr50Ala missense NM_007298.4:c.289A>G NP_009229.2:p.Thr97Ala missense NM_007299.4:c.289A>G NP_009230.2:p.Thr97Ala missense NM_007300.4:c.289A>G NP_009231.2:p.Thr97Ala missense NM_007304.2:c.289A>G NP_009235.2:p.Thr97Ala missense NR_027676.2:n.469A>G non-coding transcript variant NC_000017.11:g.43104880T>C NC_000017.10:g.41256897T>C NG_005905.2:g.113104A>G LRG_292:g.113104A>G LRG_292t1:c.289A>G LRG_292p1:p.Thr97Ala - Protein change
- T97A, T50A, T71A, T27A, T53A
- Other names
- -
- Canonical SPDI
- NC_000017.11:43104879:T:C
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
functionally_normal; Sequence Ontology [ SO:0002219]The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.289A>G, a MISSENSE variant, produced a function score of -0.73, corresponding to a functional classification of FUNCTIONAL. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. [submitted by Brotman Baty Institute, University of Washington]
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
The Genome Aggregation Database (gnomAD) 0.00001
- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13050 | 14856 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Uncertain significance (1) |
criteria provided, single submitter
|
Apr 15, 2016 | RCV000510019.4 | |
Likely benign (2) |
criteria provided, single submitter
|
Apr 12, 2024 | RCV001072773.4 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
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Uncertain significance
(Apr 15, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000607985.5
First in ClinVar: Oct 23, 2017 Last updated: May 01, 2024 |
Comment:
The p.T97A variant (also known as c.289A>G), located in coding exon 4 of the BRCA1 gene, results from an A to G substitution at nucleotide … (more)
The p.T97A variant (also known as c.289A>G), located in coding exon 4 of the BRCA1 gene, results from an A to G substitution at nucleotide position 289. The threonine at codon 97 is replaced by alanine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.0004% (greater than 225000 alleles tested) in our clinical cohort. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
|
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Likely benign
(Apr 12, 2024)
|
criteria provided, single submitter
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
Accession: SCV005402497.1
First in ClinVar: Nov 24, 2024 Last updated: Nov 24, 2024 |
Comment:
Each variant was annotated with functional scores from MAVE data which was translated into functional evidence codes. All other evidence codes and combining criteria were … (more)
Each variant was annotated with functional scores from MAVE data which was translated into functional evidence codes. All other evidence codes and combining criteria were adhered to as closely as possible based on the ClinGen VCEP (Variant Curation Expert Panel) gene-specific recommendations. See Supplemental Figure 34 of final paper (Supp Fig. 28 in preprint: doi:10.1101/2024.04.11.24305690) for a table to see which lines of evidence we did not have data for. The ClinGen VCEPs are highly regarded as the gold-standard for gene-specific variant curation and are developed after extensive evaluation of the evidence by clinical and scientific experts for the particular gene to classify genomic variants on a spectrum from pathogenic to benign using the 2015 ACMG/AMP Variant Interpretation Guidelines as a backbone (PMID: 25741868). Reclassification of these VUS variants from gnomAD or All of Us focused only on variants originally prescribed as VUS in ClinVar. To ensure reproducibility, transparency, and increased throughput, all the procedures for annotating variants and assigning evidence codes were codified using Python. All code has been made freely available and is linked in the Code Availability section and all reclassified variants with evidence codes used can be found in Tables S18-19 (preprint: doi:10.1101/2024.04.11.24305690). For the MAVE data, the clinical curation and clinical strength assignment as per the ClinGen recommendations in Brnich et al. (2020) (PMID: 31892348) for or against pathogenicity or benignity of each of these MAVE datasets utilized in this study were previously published in Fayer et al. (2021) (PMID: 34793697).In brief, for BRCA1 variants, if a variant was categorized as FUNC (functional), it was assigned BS3 evidence and no PS3 evidence, whereas if it was categorized as LOF (loss of function), the variant was assigned PS3 evidence and no BS3 evidence. Variants categorized as INT (intermediate) were left unannotated. For the BRCA1 combining criteria, greater than or equal to 1 criteria of strong benign evidence was enough to reclassify the VUS as Likely Benign. This variant GRCh38:17:43104880:T>C was assigned evidence codes ['BS3'] and an overall classification of Likely benign (less)
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|
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: SCV001238217.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
FUNCTIONAL:-0.726820581088183
|
Germline Functional Evidence
Functional
Help
The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
Help
A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
Help
A brief description of the result of this method for this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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functionally_normal
|
Method citation(s):
|
|
Brotman Baty Institute, University of Washington
Accession: SCV001238217.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.289A>G, a MISSENSE variant, produced a function score of -0.73, corresponding to a functional classification of FUNCTIONAL. … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.289A>G, a MISSENSE variant, produced a function score of -0.73, corresponding to a functional classification of FUNCTIONAL. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. (less)
|
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel. | Parsons MT | American journal of human genetics | 2024 | PMID: 39142283 |
Defining and Reducing Variant Classification Disparities. | Dawood M | medRxiv : the preprint server for health sciences | 2024 | DOI: 10.1101/2024.04.11.24305690 |
Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN. | Fayer S | American journal of human genetics | 2021 | PMID: 34793697 |
Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
Text-mined citations for rs1404795980 ...
HelpRecord last updated Nov 25, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.