ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.2027C>T (p.Thr676Ile)
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(2); 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.2027C>T (p.Thr676Ile)
Variation ID: 820542 Accession: VCV000820542.15
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43093504 (GRCh38) [ NCBI UCSC ] 17: 41245521 (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 Mar 16, 2020 May 1, 2024 Mar 23, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.2027C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Thr676Ile missense NM_001407571.1:c.1814C>T NP_001394500.1:p.Thr605Ile missense NM_001407581.1:c.2027C>T NP_001394510.1:p.Thr676Ile missense NM_001407582.1:c.2027C>T NP_001394511.1:p.Thr676Ile missense NM_001407583.1:c.2027C>T NP_001394512.1:p.Thr676Ile missense NM_001407585.1:c.2027C>T NP_001394514.1:p.Thr676Ile missense NM_001407587.1:c.2024C>T NP_001394516.1:p.Thr675Ile missense NM_001407590.1:c.2024C>T NP_001394519.1:p.Thr675Ile missense NM_001407591.1:c.2024C>T NP_001394520.1:p.Thr675Ile missense NM_001407593.1:c.2027C>T NP_001394522.1:p.Thr676Ile missense NM_001407594.1:c.2027C>T NP_001394523.1:p.Thr676Ile missense NM_001407596.1:c.2027C>T NP_001394525.1:p.Thr676Ile missense NM_001407597.1:c.2027C>T NP_001394526.1:p.Thr676Ile missense NM_001407598.1:c.2027C>T NP_001394527.1:p.Thr676Ile missense NM_001407602.1:c.2027C>T NP_001394531.1:p.Thr676Ile missense NM_001407603.1:c.2027C>T NP_001394532.1:p.Thr676Ile missense NM_001407605.1:c.2027C>T NP_001394534.1:p.Thr676Ile missense NM_001407610.1:c.2024C>T NP_001394539.1:p.Thr675Ile missense NM_001407611.1:c.2024C>T NP_001394540.1:p.Thr675Ile missense NM_001407612.1:c.2024C>T NP_001394541.1:p.Thr675Ile missense NM_001407613.1:c.2024C>T NP_001394542.1:p.Thr675Ile missense NM_001407614.1:c.2024C>T NP_001394543.1:p.Thr675Ile missense NM_001407615.1:c.2024C>T NP_001394544.1:p.Thr675Ile missense NM_001407616.1:c.2027C>T NP_001394545.1:p.Thr676Ile missense NM_001407617.1:c.2027C>T NP_001394546.1:p.Thr676Ile missense NM_001407618.1:c.2027C>T NP_001394547.1:p.Thr676Ile missense NM_001407619.1:c.2027C>T NP_001394548.1:p.Thr676Ile missense NM_001407620.1:c.2027C>T NP_001394549.1:p.Thr676Ile missense NM_001407621.1:c.2027C>T NP_001394550.1:p.Thr676Ile missense NM_001407622.1:c.2027C>T NP_001394551.1:p.Thr676Ile missense NM_001407623.1:c.2027C>T NP_001394552.1:p.Thr676Ile missense NM_001407624.1:c.2027C>T NP_001394553.1:p.Thr676Ile missense NM_001407625.1:c.2027C>T NP_001394554.1:p.Thr676Ile missense NM_001407626.1:c.2027C>T NP_001394555.1:p.Thr676Ile missense NM_001407627.1:c.2024C>T NP_001394556.1:p.Thr675Ile missense NM_001407628.1:c.2024C>T NP_001394557.1:p.Thr675Ile missense NM_001407629.1:c.2024C>T NP_001394558.1:p.Thr675Ile missense NM_001407630.1:c.2024C>T NP_001394559.1:p.Thr675Ile missense NM_001407631.1:c.2024C>T NP_001394560.1:p.Thr675Ile missense NM_001407632.1:c.2024C>T NP_001394561.1:p.Thr675Ile missense NM_001407633.1:c.2024C>T NP_001394562.1:p.Thr675Ile missense NM_001407634.1:c.2024C>T NP_001394563.1:p.Thr675Ile missense NM_001407635.1:c.2024C>T NP_001394564.1:p.Thr675Ile missense NM_001407636.1:c.2024C>T NP_001394565.1:p.Thr675Ile missense NM_001407637.1:c.2024C>T NP_001394566.1:p.Thr675Ile missense NM_001407638.1:c.2024C>T NP_001394567.1:p.Thr675Ile missense NM_001407639.1:c.2027C>T NP_001394568.1:p.Thr676Ile missense NM_001407640.1:c.2027C>T NP_001394569.1:p.Thr676Ile missense NM_001407641.1:c.2027C>T NP_001394570.1:p.Thr676Ile missense NM_001407642.1:c.2027C>T NP_001394571.1:p.Thr676Ile missense NM_001407644.1:c.2024C>T NP_001394573.1:p.Thr675Ile missense NM_001407645.1:c.2024C>T NP_001394574.1:p.Thr675Ile missense NM_001407646.1:c.2018C>T NP_001394575.1:p.Thr673Ile missense NM_001407647.1:c.2018C>T NP_001394576.1:p.Thr673Ile missense NM_001407648.1:c.1904C>T NP_001394577.1:p.Thr635Ile missense NM_001407649.1:c.1901C>T NP_001394578.1:p.Thr634Ile missense NM_001407652.1:c.2027C>T NP_001394581.1:p.Thr676Ile missense NM_001407653.1:c.1949C>T NP_001394582.1:p.Thr650Ile missense NM_001407654.1:c.1949C>T NP_001394583.1:p.Thr650Ile missense NM_001407655.1:c.1949C>T NP_001394584.1:p.Thr650Ile missense NM_001407656.1:c.1949C>T NP_001394585.1:p.Thr650Ile missense NM_001407657.1:c.1949C>T NP_001394586.1:p.Thr650Ile missense NM_001407658.1:c.1949C>T NP_001394587.1:p.Thr650Ile missense NM_001407659.1:c.1946C>T NP_001394588.1:p.Thr649Ile missense NM_001407660.1:c.1946C>T NP_001394589.1:p.Thr649Ile missense NM_001407661.1:c.1946C>T NP_001394590.1:p.Thr649Ile missense NM_001407662.1:c.1946C>T NP_001394591.1:p.Thr649Ile missense NM_001407663.1:c.1949C>T NP_001394592.1:p.Thr650Ile missense NM_001407664.1:c.1904C>T NP_001394593.1:p.Thr635Ile missense NM_001407665.1:c.1904C>T NP_001394594.1:p.Thr635Ile missense NM_001407666.1:c.1904C>T NP_001394595.1:p.Thr635Ile missense NM_001407667.1:c.1904C>T NP_001394596.1:p.Thr635Ile missense NM_001407668.1:c.1904C>T NP_001394597.1:p.Thr635Ile missense NM_001407669.1:c.1904C>T NP_001394598.1:p.Thr635Ile missense NM_001407670.1:c.1901C>T NP_001394599.1:p.Thr634Ile missense NM_001407671.1:c.1901C>T NP_001394600.1:p.Thr634Ile missense NM_001407672.1:c.1901C>T NP_001394601.1:p.Thr634Ile missense NM_001407673.1:c.1901C>T NP_001394602.1:p.Thr634Ile missense NM_001407674.1:c.1904C>T NP_001394603.1:p.Thr635Ile missense NM_001407675.1:c.1904C>T NP_001394604.1:p.Thr635Ile missense NM_001407676.1:c.1904C>T NP_001394605.1:p.Thr635Ile missense NM_001407677.1:c.1904C>T NP_001394606.1:p.Thr635Ile missense NM_001407678.1:c.1904C>T NP_001394607.1:p.Thr635Ile missense NM_001407679.1:c.1904C>T NP_001394608.1:p.Thr635Ile missense NM_001407680.1:c.1904C>T NP_001394609.1:p.Thr635Ile missense NM_001407681.1:c.1904C>T NP_001394610.1:p.Thr635Ile missense NM_001407682.1:c.1904C>T NP_001394611.1:p.Thr635Ile missense NM_001407683.1:c.1904C>T NP_001394612.1:p.Thr635Ile missense NM_001407684.1:c.2027C>T NP_001394613.1:p.Thr676Ile missense NM_001407685.1:c.1901C>T NP_001394614.1:p.Thr634Ile missense NM_001407686.1:c.1901C>T NP_001394615.1:p.Thr634Ile missense NM_001407687.1:c.1901C>T NP_001394616.1:p.Thr634Ile missense NM_001407688.1:c.1901C>T NP_001394617.1:p.Thr634Ile missense NM_001407689.1:c.1901C>T NP_001394618.1:p.Thr634Ile missense NM_001407690.1:c.1901C>T NP_001394619.1:p.Thr634Ile missense NM_001407691.1:c.1901C>T NP_001394620.1:p.Thr634Ile missense NM_001407692.1:c.1886C>T NP_001394621.1:p.Thr629Ile missense NM_001407694.1:c.1886C>T NP_001394623.1:p.Thr629Ile missense NM_001407695.1:c.1886C>T NP_001394624.1:p.Thr629Ile missense NM_001407696.1:c.1886C>T NP_001394625.1:p.Thr629Ile missense NM_001407697.1:c.1886C>T NP_001394626.1:p.Thr629Ile missense NM_001407698.1:c.1886C>T NP_001394627.1:p.Thr629Ile missense NM_001407724.1:c.1886C>T NP_001394653.1:p.Thr629Ile missense NM_001407725.1:c.1886C>T NP_001394654.1:p.Thr629Ile missense NM_001407726.1:c.1886C>T NP_001394655.1:p.Thr629Ile missense NM_001407727.1:c.1886C>T NP_001394656.1:p.Thr629Ile missense NM_001407728.1:c.1886C>T NP_001394657.1:p.Thr629Ile missense NM_001407729.1:c.1886C>T NP_001394658.1:p.Thr629Ile missense NM_001407730.1:c.1886C>T NP_001394659.1:p.Thr629Ile missense NM_001407731.1:c.1886C>T NP_001394660.1:p.Thr629Ile missense NM_001407732.1:c.1886C>T NP_001394661.1:p.Thr629Ile missense NM_001407733.1:c.1886C>T NP_001394662.1:p.Thr629Ile missense NM_001407734.1:c.1886C>T NP_001394663.1:p.Thr629Ile missense NM_001407735.1:c.1886C>T NP_001394664.1:p.Thr629Ile missense NM_001407736.1:c.1886C>T NP_001394665.1:p.Thr629Ile missense NM_001407737.1:c.1886C>T NP_001394666.1:p.Thr629Ile missense NM_001407738.1:c.1886C>T NP_001394667.1:p.Thr629Ile missense NM_001407739.1:c.1886C>T NP_001394668.1:p.Thr629Ile missense NM_001407740.1:c.1883C>T NP_001394669.1:p.Thr628Ile missense NM_001407741.1:c.1883C>T NP_001394670.1:p.Thr628Ile missense NM_001407742.1:c.1883C>T NP_001394671.1:p.Thr628Ile missense NM_001407743.1:c.1883C>T NP_001394672.1:p.Thr628Ile missense NM_001407744.1:c.1883C>T NP_001394673.1:p.Thr628Ile missense NM_001407745.1:c.1883C>T NP_001394674.1:p.Thr628Ile missense NM_001407746.1:c.1883C>T NP_001394675.1:p.Thr628Ile missense NM_001407747.1:c.1883C>T NP_001394676.1:p.Thr628Ile missense NM_001407748.1:c.1883C>T NP_001394677.1:p.Thr628Ile missense NM_001407749.1:c.1883C>T NP_001394678.1:p.Thr628Ile missense NM_001407750.1:c.1886C>T NP_001394679.1:p.Thr629Ile missense NM_001407751.1:c.1886C>T NP_001394680.1:p.Thr629Ile missense NM_001407752.1:c.1886C>T NP_001394681.1:p.Thr629Ile missense NM_001407838.1:c.1883C>T NP_001394767.1:p.Thr628Ile missense NM_001407839.1:c.1883C>T NP_001394768.1:p.Thr628Ile missense NM_001407841.1:c.1883C>T NP_001394770.1:p.Thr628Ile missense NM_001407842.1:c.1883C>T NP_001394771.1:p.Thr628Ile missense NM_001407843.1:c.1883C>T NP_001394772.1:p.Thr628Ile missense NM_001407844.1:c.1883C>T NP_001394773.1:p.Thr628Ile missense NM_001407845.1:c.1883C>T NP_001394774.1:p.Thr628Ile missense NM_001407846.1:c.1883C>T NP_001394775.1:p.Thr628Ile missense NM_001407847.1:c.1883C>T NP_001394776.1:p.Thr628Ile missense NM_001407848.1:c.1883C>T NP_001394777.1:p.Thr628Ile missense NM_001407849.1:c.1883C>T NP_001394778.1:p.Thr628Ile missense NM_001407850.1:c.1886C>T NP_001394779.1:p.Thr629Ile missense NM_001407851.1:c.1886C>T NP_001394780.1:p.Thr629Ile missense NM_001407852.1:c.1886C>T NP_001394781.1:p.Thr629Ile missense NM_001407853.1:c.1814C>T NP_001394782.1:p.Thr605Ile missense NM_001407854.1:c.2027C>T NP_001394783.1:p.Thr676Ile missense NM_001407858.1:c.2027C>T NP_001394787.1:p.Thr676Ile missense NM_001407859.1:c.2027C>T NP_001394788.1:p.Thr676Ile missense NM_001407860.1:c.2024C>T NP_001394789.1:p.Thr675Ile missense NM_001407861.1:c.2024C>T NP_001394790.1:p.Thr675Ile missense NM_001407862.1:c.1826C>T NP_001394791.1:p.Thr609Ile missense NM_001407863.1:c.1904C>T NP_001394792.1:p.Thr635Ile missense NM_001407874.1:c.1823C>T NP_001394803.1:p.Thr608Ile missense NM_001407875.1:c.1823C>T NP_001394804.1:p.Thr608Ile missense NM_001407879.1:c.1817C>T NP_001394808.1:p.Thr606Ile missense NM_001407881.1:c.1817C>T NP_001394810.1:p.Thr606Ile missense NM_001407882.1:c.1817C>T NP_001394811.1:p.Thr606Ile missense NM_001407884.1:c.1817C>T NP_001394813.1:p.Thr606Ile missense NM_001407885.1:c.1817C>T NP_001394814.1:p.Thr606Ile missense NM_001407886.1:c.1817C>T NP_001394815.1:p.Thr606Ile missense NM_001407887.1:c.1817C>T NP_001394816.1:p.Thr606Ile missense NM_001407889.1:c.1817C>T NP_001394818.1:p.Thr606Ile missense NM_001407894.1:c.1814C>T NP_001394823.1:p.Thr605Ile missense NM_001407895.1:c.1814C>T NP_001394824.1:p.Thr605Ile missense NM_001407896.1:c.1814C>T NP_001394825.1:p.Thr605Ile missense NM_001407897.1:c.1814C>T NP_001394826.1:p.Thr605Ile missense NM_001407898.1:c.1814C>T NP_001394827.1:p.Thr605Ile missense NM_001407899.1:c.1814C>T NP_001394828.1:p.Thr605Ile missense NM_001407900.1:c.1817C>T NP_001394829.1:p.Thr606Ile missense NM_001407902.1:c.1817C>T NP_001394831.1:p.Thr606Ile missense NM_001407904.1:c.1817C>T NP_001394833.1:p.Thr606Ile missense NM_001407906.1:c.1817C>T NP_001394835.1:p.Thr606Ile missense NM_001407907.1:c.1817C>T NP_001394836.1:p.Thr606Ile missense NM_001407908.1:c.1817C>T NP_001394837.1:p.Thr606Ile missense NM_001407909.1:c.1817C>T NP_001394838.1:p.Thr606Ile missense NM_001407910.1:c.1817C>T NP_001394839.1:p.Thr606Ile missense NM_001407915.1:c.1814C>T NP_001394844.1:p.Thr605Ile missense NM_001407916.1:c.1814C>T NP_001394845.1:p.Thr605Ile missense NM_001407917.1:c.1814C>T NP_001394846.1:p.Thr605Ile missense NM_001407918.1:c.1814C>T NP_001394847.1:p.Thr605Ile missense NM_001407919.1:c.1904C>T NP_001394848.1:p.Thr635Ile missense NM_001407920.1:c.1763C>T NP_001394849.1:p.Thr588Ile missense NM_001407921.1:c.1763C>T NP_001394850.1:p.Thr588Ile missense NM_001407922.1:c.1763C>T NP_001394851.1:p.Thr588Ile missense NM_001407923.1:c.1763C>T NP_001394852.1:p.Thr588Ile missense NM_001407924.1:c.1763C>T NP_001394853.1:p.Thr588Ile missense NM_001407925.1:c.1763C>T NP_001394854.1:p.Thr588Ile missense NM_001407926.1:c.1763C>T NP_001394855.1:p.Thr588Ile missense NM_001407927.1:c.1763C>T NP_001394856.1:p.Thr588Ile missense NM_001407928.1:c.1763C>T NP_001394857.1:p.Thr588Ile missense NM_001407929.1:c.1763C>T NP_001394858.1:p.Thr588Ile missense NM_001407930.1:c.1760C>T NP_001394859.1:p.Thr587Ile missense NM_001407931.1:c.1760C>T NP_001394860.1:p.Thr587Ile missense NM_001407932.1:c.1760C>T NP_001394861.1:p.Thr587Ile missense NM_001407933.1:c.1763C>T NP_001394862.1:p.Thr588Ile missense NM_001407934.1:c.1760C>T NP_001394863.1:p.Thr587Ile missense NM_001407935.1:c.1763C>T NP_001394864.1:p.Thr588Ile missense NM_001407936.1:c.1760C>T NP_001394865.1:p.Thr587Ile missense NM_001407937.1:c.1904C>T NP_001394866.1:p.Thr635Ile missense NM_001407938.1:c.1904C>T NP_001394867.1:p.Thr635Ile missense NM_001407939.1:c.1904C>T NP_001394868.1:p.Thr635Ile missense NM_001407940.1:c.1901C>T NP_001394869.1:p.Thr634Ile missense NM_001407941.1:c.1901C>T NP_001394870.1:p.Thr634Ile missense NM_001407942.1:c.1886C>T NP_001394871.1:p.Thr629Ile missense NM_001407943.1:c.1883C>T NP_001394872.1:p.Thr628Ile missense NM_001407944.1:c.1886C>T NP_001394873.1:p.Thr629Ile missense NM_001407945.1:c.1886C>T NP_001394874.1:p.Thr629Ile missense NM_001407946.1:c.1694C>T NP_001394875.1:p.Thr565Ile missense NM_001407947.1:c.1694C>T NP_001394876.1:p.Thr565Ile missense NM_001407948.1:c.1694C>T NP_001394877.1:p.Thr565Ile missense NM_001407949.1:c.1694C>T NP_001394878.1:p.Thr565Ile missense NM_001407950.1:c.1694C>T NP_001394879.1:p.Thr565Ile missense NM_001407951.1:c.1694C>T NP_001394880.1:p.Thr565Ile missense NM_001407952.1:c.1694C>T NP_001394881.1:p.Thr565Ile missense NM_001407953.1:c.1694C>T NP_001394882.1:p.Thr565Ile missense NM_001407954.1:c.1691C>T NP_001394883.1:p.Thr564Ile missense NM_001407955.1:c.1691C>T NP_001394884.1:p.Thr564Ile missense NM_001407956.1:c.1691C>T NP_001394885.1:p.Thr564Ile missense NM_001407957.1:c.1694C>T NP_001394886.1:p.Thr565Ile missense NM_001407958.1:c.1691C>T NP_001394887.1:p.Thr564Ile missense NM_001407959.1:c.1646C>T NP_001394888.1:p.Thr549Ile missense NM_001407960.1:c.1646C>T NP_001394889.1:p.Thr549Ile missense NM_001407962.1:c.1643C>T NP_001394891.1:p.Thr548Ile missense NM_001407963.1:c.1646C>T NP_001394892.1:p.Thr549Ile missense NM_001407964.1:c.1883C>T NP_001394893.1:p.Thr628Ile missense NM_001407965.1:c.1523C>T NP_001394894.1:p.Thr508Ile missense NM_001407966.1:c.1139C>T NP_001394895.1:p.Thr380Ile missense NM_001407967.1:c.1139C>T NP_001394896.1:p.Thr380Ile missense NM_001407968.1:c.787+1240C>T intron variant NM_001407969.1:c.787+1240C>T intron variant NM_001407970.1:c.787+1240C>T intron variant NM_001407971.1:c.787+1240C>T intron variant NM_001407972.1:c.784+1240C>T intron variant NM_001407973.1:c.787+1240C>T intron variant NM_001407974.1:c.787+1240C>T intron variant NM_001407975.1:c.787+1240C>T intron variant NM_001407976.1:c.787+1240C>T intron variant NM_001407977.1:c.787+1240C>T intron variant NM_001407978.1:c.787+1240C>T intron variant NM_001407979.1:c.787+1240C>T intron variant NM_001407980.1:c.787+1240C>T intron variant NM_001407981.1:c.787+1240C>T intron variant NM_001407982.1:c.787+1240C>T intron variant NM_001407983.1:c.787+1240C>T intron variant NM_001407984.1:c.784+1240C>T intron variant NM_001407985.1:c.784+1240C>T intron variant NM_001407986.1:c.784+1240C>T intron variant NM_001407990.1:c.787+1240C>T intron variant NM_001407991.1:c.784+1240C>T intron variant NM_001407992.1:c.784+1240C>T intron variant NM_001407993.1:c.787+1240C>T intron variant NM_001408392.1:c.784+1240C>T intron variant NM_001408396.1:c.784+1240C>T intron variant NM_001408397.1:c.784+1240C>T intron variant NM_001408398.1:c.784+1240C>T intron variant NM_001408399.1:c.784+1240C>T intron variant NM_001408400.1:c.784+1240C>T intron variant NM_001408401.1:c.784+1240C>T intron variant NM_001408402.1:c.784+1240C>T intron variant NM_001408403.1:c.787+1240C>T intron variant NM_001408404.1:c.787+1240C>T intron variant NM_001408406.1:c.790+1237C>T intron variant NM_001408407.1:c.784+1240C>T intron variant NM_001408408.1:c.778+1240C>T intron variant NM_001408409.1:c.709+1240C>T intron variant NM_001408410.1:c.646+1240C>T intron variant NM_001408411.1:c.709+1240C>T intron variant NM_001408412.1:c.709+1240C>T intron variant NM_001408413.1:c.706+1240C>T intron variant NM_001408414.1:c.709+1240C>T intron variant NM_001408415.1:c.709+1240C>T intron variant NM_001408416.1:c.706+1240C>T intron variant NM_001408418.1:c.670+2342C>T intron variant NM_001408419.1:c.670+2342C>T intron variant NM_001408420.1:c.670+2342C>T intron variant NM_001408421.1:c.667+2342C>T intron variant NM_001408422.1:c.670+2342C>T intron variant NM_001408423.1:c.670+2342C>T intron variant NM_001408424.1:c.667+2342C>T intron variant NM_001408425.1:c.664+1240C>T intron variant NM_001408426.1:c.664+1240C>T intron variant NM_001408427.1:c.664+1240C>T intron variant NM_001408428.1:c.664+1240C>T intron variant NM_001408429.1:c.664+1240C>T intron variant NM_001408430.1:c.664+1240C>T intron variant NM_001408431.1:c.667+2342C>T intron variant NM_001408432.1:c.661+1240C>T intron variant NM_001408433.1:c.661+1240C>T intron variant NM_001408434.1:c.661+1240C>T intron variant NM_001408435.1:c.661+1240C>T intron variant NM_001408436.1:c.664+1240C>T intron variant NM_001408437.1:c.664+1240C>T intron variant NM_001408438.1:c.664+1240C>T intron variant NM_001408439.1:c.664+1240C>T intron variant NM_001408440.1:c.664+1240C>T intron variant NM_001408441.1:c.664+1240C>T intron variant NM_001408442.1:c.664+1240C>T intron variant NM_001408443.1:c.664+1240C>T intron variant NM_001408444.1:c.664+1240C>T intron variant NM_001408445.1:c.661+1240C>T intron variant NM_001408446.1:c.661+1240C>T intron variant NM_001408447.1:c.661+1240C>T intron variant NM_001408448.1:c.661+1240C>T intron variant NM_001408450.1:c.661+1240C>T intron variant NM_001408451.1:c.652+1240C>T intron variant NM_001408452.1:c.646+1240C>T intron variant NM_001408453.1:c.646+1240C>T intron variant NM_001408454.1:c.646+1240C>T intron variant NM_001408455.1:c.646+1240C>T intron variant NM_001408456.1:c.646+1240C>T intron variant NM_001408457.1:c.646+1240C>T intron variant NM_001408458.1:c.646+1240C>T intron variant NM_001408459.1:c.646+1240C>T intron variant NM_001408460.1:c.646+1240C>T intron variant NM_001408461.1:c.646+1240C>T intron variant NM_001408462.1:c.643+1240C>T intron variant NM_001408463.1:c.643+1240C>T intron variant NM_001408464.1:c.643+1240C>T intron variant NM_001408465.1:c.643+1240C>T intron variant NM_001408466.1:c.646+1240C>T intron variant NM_001408467.1:c.646+1240C>T intron variant NM_001408468.1:c.643+1240C>T intron variant NM_001408469.1:c.646+1240C>T intron variant NM_001408470.1:c.643+1240C>T intron variant NM_001408472.1:c.787+1240C>T intron variant NM_001408473.1:c.784+1240C>T intron variant NM_001408474.1:c.586+1240C>T intron variant NM_001408475.1:c.583+1240C>T intron variant NM_001408476.1:c.586+1240C>T intron variant NM_001408478.1:c.577+1240C>T intron variant NM_001408479.1:c.577+1240C>T intron variant NM_001408480.1:c.577+1240C>T intron variant NM_001408481.1:c.577+1240C>T intron variant NM_001408482.1:c.577+1240C>T intron variant NM_001408483.1:c.577+1240C>T intron variant NM_001408484.1:c.577+1240C>T intron variant NM_001408485.1:c.577+1240C>T intron variant NM_001408489.1:c.577+1240C>T intron variant NM_001408490.1:c.574+1240C>T intron variant NM_001408491.1:c.574+1240C>T intron variant NM_001408492.1:c.577+1240C>T intron variant NM_001408493.1:c.574+1240C>T intron variant NM_001408494.1:c.548-2472C>T intron variant NM_001408495.1:c.545-2472C>T intron variant NM_001408496.1:c.523+1240C>T intron variant NM_001408497.1:c.523+1240C>T intron variant NM_001408498.1:c.523+1240C>T intron variant NM_001408499.1:c.523+1240C>T intron variant NM_001408500.1:c.523+1240C>T intron variant NM_001408501.1:c.523+1240C>T intron variant NM_001408502.1:c.454+1240C>T intron variant NM_001408503.1:c.520+1240C>T intron variant NM_001408504.1:c.520+1240C>T intron variant NM_001408505.1:c.520+1240C>T intron variant NM_001408506.1:c.460+2342C>T intron variant NM_001408507.1:c.460+2342C>T intron variant NM_001408508.1:c.451+1240C>T intron variant NM_001408509.1:c.451+1240C>T intron variant NM_001408510.1:c.406+1240C>T intron variant NM_001408511.1:c.404-2472C>T intron variant NM_001408512.1:c.283+1240C>T intron variant NM_001408513.1:c.577+1240C>T intron variant NM_001408514.1:c.577+1240C>T intron variant NM_007297.4:c.1886C>T NP_009228.2:p.Thr629Ile missense NM_007298.4:c.787+1240C>T intron variant NM_007299.4:c.787+1240C>T intron variant NM_007300.4:c.2027C>T NP_009231.2:p.Thr676Ile missense NR_027676.1:n.2163C>T NC_000017.11:g.43093504G>A NC_000017.10:g.41245521G>A NG_005905.2:g.124480C>T LRG_292:g.124480C>T LRG_292t1:c.2027C>T LRG_292p1:p.Thr676Ile - Protein change
- T629I, T676I, T380I, T588I, T605I, T609I, T650I, T508I, T548I, T606I, T628I, T608I, T675I, T549I, T564I, T565I, T587I, T634I, T635I, T649I, T673I
- Other names
- -
- Canonical SPDI
- NC_000017.11:43093503:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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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.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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- 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. |
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BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13037 | 14843 |
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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Conflicting interpretations of pathogenicity (2) |
criteria provided, conflicting classifications
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Mar 23, 2023 | RCV001014110.8 | |
Uncertain significance (1) |
criteria provided, single submitter
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Jun 3, 2022 | RCV001059917.8 |
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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Likely benign
(Mar 23, 2023)
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criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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University of Washington Department of Laboratory Medicine, University of Washington
Accession: SCV003849557.1
First in ClinVar: Apr 01, 2023 Last updated: Apr 01, 2023
Comment:
BRCA1 coldspot (exon 11 using historical exon numbering). Reclassification based on statistical prior probability
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Comment:
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
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Uncertain significance
(Jul 17, 2019)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV001174784.4
First in ClinVar: Mar 16, 2020 Last updated: May 01, 2024 |
Comment:
The p.T676I variant (also known as c.2027C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide … (more)
The p.T676I variant (also known as c.2027C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide position 2027. The threonine at codon 676 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
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Uncertain significance
(Jun 03, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001224572.5
First in ClinVar: Apr 15, 2020 Last updated: Feb 20, 2024 |
Comment:
ClinVar contains an entry for this variant (Variation ID: 820542). In summary, the available evidence is currently insufficient to determine the role of this variant … (more)
ClinVar contains an entry for this variant (Variation ID: 820542). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 676 of the BRCA1 protein (p.Thr676Ile). (less)
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots". | Dines JN | Genetics in medicine : official journal of the American College of Medical Genetics | 2020 | PMID: 31911673 |
Text-mined citations for rs1597872628 ...
HelpRecord last updated Sep 29, 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.