ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.1799T>C (p.Ile600Thr)
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(4); Likely benign(2)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.1799T>C (p.Ile600Thr)
Variation ID: 479261 Accession: VCV000479261.16
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43093732 (GRCh38) [ NCBI UCSC ] 17: 41245749 (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 Jan 1, 2018 Aug 4, 2024 Jul 31, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.1799T>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ile600Thr missense NM_001407571.1:c.1586T>C NP_001394500.1:p.Ile529Thr missense NM_001407581.1:c.1799T>C NP_001394510.1:p.Ile600Thr missense NM_001407582.1:c.1799T>C NP_001394511.1:p.Ile600Thr missense NM_001407583.1:c.1799T>C NP_001394512.1:p.Ile600Thr missense NM_001407585.1:c.1799T>C NP_001394514.1:p.Ile600Thr missense NM_001407587.1:c.1796T>C NP_001394516.1:p.Ile599Thr missense NM_001407590.1:c.1796T>C NP_001394519.1:p.Ile599Thr missense NM_001407591.1:c.1796T>C NP_001394520.1:p.Ile599Thr missense NM_001407593.1:c.1799T>C NP_001394522.1:p.Ile600Thr missense NM_001407594.1:c.1799T>C NP_001394523.1:p.Ile600Thr missense NM_001407596.1:c.1799T>C NP_001394525.1:p.Ile600Thr missense NM_001407597.1:c.1799T>C NP_001394526.1:p.Ile600Thr missense NM_001407598.1:c.1799T>C NP_001394527.1:p.Ile600Thr missense NM_001407602.1:c.1799T>C NP_001394531.1:p.Ile600Thr missense NM_001407603.1:c.1799T>C NP_001394532.1:p.Ile600Thr missense NM_001407605.1:c.1799T>C NP_001394534.1:p.Ile600Thr missense NM_001407610.1:c.1796T>C NP_001394539.1:p.Ile599Thr missense NM_001407611.1:c.1796T>C NP_001394540.1:p.Ile599Thr missense NM_001407612.1:c.1796T>C NP_001394541.1:p.Ile599Thr missense NM_001407613.1:c.1796T>C NP_001394542.1:p.Ile599Thr missense NM_001407614.1:c.1796T>C NP_001394543.1:p.Ile599Thr missense NM_001407615.1:c.1796T>C NP_001394544.1:p.Ile599Thr missense NM_001407616.1:c.1799T>C NP_001394545.1:p.Ile600Thr missense NM_001407617.1:c.1799T>C NP_001394546.1:p.Ile600Thr missense NM_001407618.1:c.1799T>C NP_001394547.1:p.Ile600Thr missense NM_001407619.1:c.1799T>C NP_001394548.1:p.Ile600Thr missense NM_001407620.1:c.1799T>C NP_001394549.1:p.Ile600Thr missense NM_001407621.1:c.1799T>C NP_001394550.1:p.Ile600Thr missense NM_001407622.1:c.1799T>C NP_001394551.1:p.Ile600Thr missense NM_001407623.1:c.1799T>C NP_001394552.1:p.Ile600Thr missense NM_001407624.1:c.1799T>C NP_001394553.1:p.Ile600Thr missense NM_001407625.1:c.1799T>C NP_001394554.1:p.Ile600Thr missense NM_001407626.1:c.1799T>C NP_001394555.1:p.Ile600Thr missense NM_001407627.1:c.1796T>C NP_001394556.1:p.Ile599Thr missense NM_001407628.1:c.1796T>C NP_001394557.1:p.Ile599Thr missense NM_001407629.1:c.1796T>C NP_001394558.1:p.Ile599Thr missense NM_001407630.1:c.1796T>C NP_001394559.1:p.Ile599Thr missense NM_001407631.1:c.1796T>C NP_001394560.1:p.Ile599Thr missense NM_001407632.1:c.1796T>C NP_001394561.1:p.Ile599Thr missense NM_001407633.1:c.1796T>C NP_001394562.1:p.Ile599Thr missense NM_001407634.1:c.1796T>C NP_001394563.1:p.Ile599Thr missense NM_001407635.1:c.1796T>C NP_001394564.1:p.Ile599Thr missense NM_001407636.1:c.1796T>C NP_001394565.1:p.Ile599Thr missense NM_001407637.1:c.1796T>C NP_001394566.1:p.Ile599Thr missense NM_001407638.1:c.1796T>C NP_001394567.1:p.Ile599Thr missense NM_001407639.1:c.1799T>C NP_001394568.1:p.Ile600Thr missense NM_001407640.1:c.1799T>C NP_001394569.1:p.Ile600Thr missense NM_001407641.1:c.1799T>C NP_001394570.1:p.Ile600Thr missense NM_001407642.1:c.1799T>C NP_001394571.1:p.Ile600Thr missense NM_001407644.1:c.1796T>C NP_001394573.1:p.Ile599Thr missense NM_001407645.1:c.1796T>C NP_001394574.1:p.Ile599Thr missense NM_001407646.1:c.1790T>C NP_001394575.1:p.Ile597Thr missense NM_001407647.1:c.1790T>C NP_001394576.1:p.Ile597Thr missense NM_001407648.1:c.1676T>C NP_001394577.1:p.Ile559Thr missense NM_001407649.1:c.1673T>C NP_001394578.1:p.Ile558Thr missense NM_001407652.1:c.1799T>C NP_001394581.1:p.Ile600Thr missense NM_001407653.1:c.1721T>C NP_001394582.1:p.Ile574Thr missense NM_001407654.1:c.1721T>C NP_001394583.1:p.Ile574Thr missense NM_001407655.1:c.1721T>C NP_001394584.1:p.Ile574Thr missense NM_001407656.1:c.1721T>C NP_001394585.1:p.Ile574Thr missense NM_001407657.1:c.1721T>C NP_001394586.1:p.Ile574Thr missense NM_001407658.1:c.1721T>C NP_001394587.1:p.Ile574Thr missense NM_001407659.1:c.1718T>C NP_001394588.1:p.Ile573Thr missense NM_001407660.1:c.1718T>C NP_001394589.1:p.Ile573Thr missense NM_001407661.1:c.1718T>C NP_001394590.1:p.Ile573Thr missense NM_001407662.1:c.1718T>C NP_001394591.1:p.Ile573Thr missense NM_001407663.1:c.1721T>C NP_001394592.1:p.Ile574Thr missense NM_001407664.1:c.1676T>C NP_001394593.1:p.Ile559Thr missense NM_001407665.1:c.1676T>C NP_001394594.1:p.Ile559Thr missense NM_001407666.1:c.1676T>C NP_001394595.1:p.Ile559Thr missense NM_001407667.1:c.1676T>C NP_001394596.1:p.Ile559Thr missense NM_001407668.1:c.1676T>C NP_001394597.1:p.Ile559Thr missense NM_001407669.1:c.1676T>C NP_001394598.1:p.Ile559Thr missense NM_001407670.1:c.1673T>C NP_001394599.1:p.Ile558Thr missense NM_001407671.1:c.1673T>C NP_001394600.1:p.Ile558Thr missense NM_001407672.1:c.1673T>C NP_001394601.1:p.Ile558Thr missense NM_001407673.1:c.1673T>C NP_001394602.1:p.Ile558Thr missense NM_001407674.1:c.1676T>C NP_001394603.1:p.Ile559Thr missense NM_001407675.1:c.1676T>C NP_001394604.1:p.Ile559Thr missense NM_001407676.1:c.1676T>C NP_001394605.1:p.Ile559Thr missense NM_001407677.1:c.1676T>C NP_001394606.1:p.Ile559Thr missense NM_001407678.1:c.1676T>C NP_001394607.1:p.Ile559Thr missense NM_001407679.1:c.1676T>C NP_001394608.1:p.Ile559Thr missense NM_001407680.1:c.1676T>C NP_001394609.1:p.Ile559Thr missense NM_001407681.1:c.1676T>C NP_001394610.1:p.Ile559Thr missense NM_001407682.1:c.1676T>C NP_001394611.1:p.Ile559Thr missense NM_001407683.1:c.1676T>C NP_001394612.1:p.Ile559Thr missense NM_001407684.1:c.1799T>C NP_001394613.1:p.Ile600Thr missense NM_001407685.1:c.1673T>C NP_001394614.1:p.Ile558Thr missense NM_001407686.1:c.1673T>C NP_001394615.1:p.Ile558Thr missense NM_001407687.1:c.1673T>C NP_001394616.1:p.Ile558Thr missense NM_001407688.1:c.1673T>C NP_001394617.1:p.Ile558Thr missense NM_001407689.1:c.1673T>C NP_001394618.1:p.Ile558Thr missense NM_001407690.1:c.1673T>C NP_001394619.1:p.Ile558Thr missense NM_001407691.1:c.1673T>C NP_001394620.1:p.Ile558Thr missense NM_001407692.1:c.1658T>C NP_001394621.1:p.Ile553Thr missense NM_001407694.1:c.1658T>C NP_001394623.1:p.Ile553Thr missense NM_001407695.1:c.1658T>C NP_001394624.1:p.Ile553Thr missense NM_001407696.1:c.1658T>C NP_001394625.1:p.Ile553Thr missense NM_001407697.1:c.1658T>C NP_001394626.1:p.Ile553Thr missense NM_001407698.1:c.1658T>C NP_001394627.1:p.Ile553Thr missense NM_001407724.1:c.1658T>C NP_001394653.1:p.Ile553Thr missense NM_001407725.1:c.1658T>C NP_001394654.1:p.Ile553Thr missense NM_001407726.1:c.1658T>C NP_001394655.1:p.Ile553Thr missense NM_001407727.1:c.1658T>C NP_001394656.1:p.Ile553Thr missense NM_001407728.1:c.1658T>C NP_001394657.1:p.Ile553Thr missense NM_001407729.1:c.1658T>C NP_001394658.1:p.Ile553Thr missense NM_001407730.1:c.1658T>C NP_001394659.1:p.Ile553Thr missense NM_001407731.1:c.1658T>C NP_001394660.1:p.Ile553Thr missense NM_001407732.1:c.1658T>C NP_001394661.1:p.Ile553Thr missense NM_001407733.1:c.1658T>C NP_001394662.1:p.Ile553Thr missense NM_001407734.1:c.1658T>C NP_001394663.1:p.Ile553Thr missense NM_001407735.1:c.1658T>C NP_001394664.1:p.Ile553Thr missense NM_001407736.1:c.1658T>C NP_001394665.1:p.Ile553Thr missense NM_001407737.1:c.1658T>C NP_001394666.1:p.Ile553Thr missense NM_001407738.1:c.1658T>C NP_001394667.1:p.Ile553Thr missense NM_001407739.1:c.1658T>C NP_001394668.1:p.Ile553Thr missense NM_001407740.1:c.1655T>C NP_001394669.1:p.Ile552Thr missense NM_001407741.1:c.1655T>C NP_001394670.1:p.Ile552Thr missense NM_001407742.1:c.1655T>C NP_001394671.1:p.Ile552Thr missense NM_001407743.1:c.1655T>C NP_001394672.1:p.Ile552Thr missense NM_001407744.1:c.1655T>C NP_001394673.1:p.Ile552Thr missense NM_001407745.1:c.1655T>C NP_001394674.1:p.Ile552Thr missense NM_001407746.1:c.1655T>C NP_001394675.1:p.Ile552Thr missense NM_001407747.1:c.1655T>C NP_001394676.1:p.Ile552Thr missense NM_001407748.1:c.1655T>C NP_001394677.1:p.Ile552Thr missense NM_001407749.1:c.1655T>C NP_001394678.1:p.Ile552Thr missense NM_001407750.1:c.1658T>C NP_001394679.1:p.Ile553Thr missense NM_001407751.1:c.1658T>C NP_001394680.1:p.Ile553Thr missense NM_001407752.1:c.1658T>C NP_001394681.1:p.Ile553Thr missense NM_001407838.1:c.1655T>C NP_001394767.1:p.Ile552Thr missense NM_001407839.1:c.1655T>C NP_001394768.1:p.Ile552Thr missense NM_001407841.1:c.1655T>C NP_001394770.1:p.Ile552Thr missense NM_001407842.1:c.1655T>C NP_001394771.1:p.Ile552Thr missense NM_001407843.1:c.1655T>C NP_001394772.1:p.Ile552Thr missense NM_001407844.1:c.1655T>C NP_001394773.1:p.Ile552Thr missense NM_001407845.1:c.1655T>C NP_001394774.1:p.Ile552Thr missense NM_001407846.1:c.1655T>C NP_001394775.1:p.Ile552Thr missense NM_001407847.1:c.1655T>C NP_001394776.1:p.Ile552Thr missense NM_001407848.1:c.1655T>C NP_001394777.1:p.Ile552Thr missense NM_001407849.1:c.1655T>C NP_001394778.1:p.Ile552Thr missense NM_001407850.1:c.1658T>C NP_001394779.1:p.Ile553Thr missense NM_001407851.1:c.1658T>C NP_001394780.1:p.Ile553Thr missense NM_001407852.1:c.1658T>C NP_001394781.1:p.Ile553Thr missense NM_001407853.1:c.1586T>C NP_001394782.1:p.Ile529Thr missense NM_001407854.1:c.1799T>C NP_001394783.1:p.Ile600Thr missense NM_001407858.1:c.1799T>C NP_001394787.1:p.Ile600Thr missense NM_001407859.1:c.1799T>C NP_001394788.1:p.Ile600Thr missense NM_001407860.1:c.1796T>C NP_001394789.1:p.Ile599Thr missense NM_001407861.1:c.1796T>C NP_001394790.1:p.Ile599Thr missense NM_001407862.1:c.1598T>C NP_001394791.1:p.Ile533Thr missense NM_001407863.1:c.1676T>C NP_001394792.1:p.Ile559Thr missense NM_001407874.1:c.1595T>C NP_001394803.1:p.Ile532Thr missense NM_001407875.1:c.1595T>C NP_001394804.1:p.Ile532Thr missense NM_001407879.1:c.1589T>C NP_001394808.1:p.Ile530Thr missense NM_001407881.1:c.1589T>C NP_001394810.1:p.Ile530Thr missense NM_001407882.1:c.1589T>C NP_001394811.1:p.Ile530Thr missense NM_001407884.1:c.1589T>C NP_001394813.1:p.Ile530Thr missense NM_001407885.1:c.1589T>C NP_001394814.1:p.Ile530Thr missense NM_001407886.1:c.1589T>C NP_001394815.1:p.Ile530Thr missense NM_001407887.1:c.1589T>C NP_001394816.1:p.Ile530Thr missense NM_001407889.1:c.1589T>C NP_001394818.1:p.Ile530Thr missense NM_001407894.1:c.1586T>C NP_001394823.1:p.Ile529Thr missense NM_001407895.1:c.1586T>C NP_001394824.1:p.Ile529Thr missense NM_001407896.1:c.1586T>C NP_001394825.1:p.Ile529Thr missense NM_001407897.1:c.1586T>C NP_001394826.1:p.Ile529Thr missense NM_001407898.1:c.1586T>C NP_001394827.1:p.Ile529Thr missense NM_001407899.1:c.1586T>C NP_001394828.1:p.Ile529Thr missense NM_001407900.1:c.1589T>C NP_001394829.1:p.Ile530Thr missense NM_001407902.1:c.1589T>C NP_001394831.1:p.Ile530Thr missense NM_001407904.1:c.1589T>C NP_001394833.1:p.Ile530Thr missense NM_001407906.1:c.1589T>C NP_001394835.1:p.Ile530Thr missense NM_001407907.1:c.1589T>C NP_001394836.1:p.Ile530Thr missense NM_001407908.1:c.1589T>C NP_001394837.1:p.Ile530Thr missense NM_001407909.1:c.1589T>C NP_001394838.1:p.Ile530Thr missense NM_001407910.1:c.1589T>C NP_001394839.1:p.Ile530Thr missense NM_001407915.1:c.1586T>C NP_001394844.1:p.Ile529Thr missense NM_001407916.1:c.1586T>C NP_001394845.1:p.Ile529Thr missense NM_001407917.1:c.1586T>C NP_001394846.1:p.Ile529Thr missense NM_001407918.1:c.1586T>C NP_001394847.1:p.Ile529Thr missense NM_001407919.1:c.1676T>C NP_001394848.1:p.Ile559Thr missense NM_001407920.1:c.1535T>C NP_001394849.1:p.Ile512Thr missense NM_001407921.1:c.1535T>C NP_001394850.1:p.Ile512Thr missense NM_001407922.1:c.1535T>C NP_001394851.1:p.Ile512Thr missense NM_001407923.1:c.1535T>C NP_001394852.1:p.Ile512Thr missense NM_001407924.1:c.1535T>C NP_001394853.1:p.Ile512Thr missense NM_001407925.1:c.1535T>C NP_001394854.1:p.Ile512Thr missense NM_001407926.1:c.1535T>C NP_001394855.1:p.Ile512Thr missense NM_001407927.1:c.1535T>C NP_001394856.1:p.Ile512Thr missense NM_001407928.1:c.1535T>C NP_001394857.1:p.Ile512Thr missense NM_001407929.1:c.1535T>C NP_001394858.1:p.Ile512Thr missense NM_001407930.1:c.1532T>C NP_001394859.1:p.Ile511Thr missense NM_001407931.1:c.1532T>C NP_001394860.1:p.Ile511Thr missense NM_001407932.1:c.1532T>C NP_001394861.1:p.Ile511Thr missense NM_001407933.1:c.1535T>C NP_001394862.1:p.Ile512Thr missense NM_001407934.1:c.1532T>C NP_001394863.1:p.Ile511Thr missense NM_001407935.1:c.1535T>C NP_001394864.1:p.Ile512Thr missense NM_001407936.1:c.1532T>C NP_001394865.1:p.Ile511Thr missense NM_001407937.1:c.1676T>C NP_001394866.1:p.Ile559Thr missense NM_001407938.1:c.1676T>C NP_001394867.1:p.Ile559Thr missense NM_001407939.1:c.1676T>C NP_001394868.1:p.Ile559Thr missense NM_001407940.1:c.1673T>C NP_001394869.1:p.Ile558Thr missense NM_001407941.1:c.1673T>C NP_001394870.1:p.Ile558Thr missense NM_001407942.1:c.1658T>C NP_001394871.1:p.Ile553Thr missense NM_001407943.1:c.1655T>C NP_001394872.1:p.Ile552Thr missense NM_001407944.1:c.1658T>C NP_001394873.1:p.Ile553Thr missense NM_001407945.1:c.1658T>C NP_001394874.1:p.Ile553Thr missense NM_001407946.1:c.1466T>C NP_001394875.1:p.Ile489Thr missense NM_001407947.1:c.1466T>C NP_001394876.1:p.Ile489Thr missense NM_001407948.1:c.1466T>C NP_001394877.1:p.Ile489Thr missense NM_001407949.1:c.1466T>C NP_001394878.1:p.Ile489Thr missense NM_001407950.1:c.1466T>C NP_001394879.1:p.Ile489Thr missense NM_001407951.1:c.1466T>C NP_001394880.1:p.Ile489Thr missense NM_001407952.1:c.1466T>C NP_001394881.1:p.Ile489Thr missense NM_001407953.1:c.1466T>C NP_001394882.1:p.Ile489Thr missense NM_001407954.1:c.1463T>C NP_001394883.1:p.Ile488Thr missense NM_001407955.1:c.1463T>C NP_001394884.1:p.Ile488Thr missense NM_001407956.1:c.1463T>C NP_001394885.1:p.Ile488Thr missense NM_001407957.1:c.1466T>C NP_001394886.1:p.Ile489Thr missense NM_001407958.1:c.1463T>C NP_001394887.1:p.Ile488Thr missense NM_001407959.1:c.1418T>C NP_001394888.1:p.Ile473Thr missense NM_001407960.1:c.1418T>C NP_001394889.1:p.Ile473Thr missense NM_001407962.1:c.1415T>C NP_001394891.1:p.Ile472Thr missense NM_001407963.1:c.1418T>C NP_001394892.1:p.Ile473Thr missense NM_001407964.1:c.1655T>C NP_001394893.1:p.Ile552Thr missense NM_001407965.1:c.1295T>C NP_001394894.1:p.Ile432Thr missense NM_001407966.1:c.911T>C NP_001394895.1:p.Ile304Thr missense NM_001407967.1:c.911T>C NP_001394896.1:p.Ile304Thr missense NM_001407968.1:c.787+1012T>C intron variant NM_001407969.1:c.787+1012T>C intron variant NM_001407970.1:c.787+1012T>C intron variant NM_001407971.1:c.787+1012T>C intron variant NM_001407972.1:c.784+1012T>C intron variant NM_001407973.1:c.787+1012T>C intron variant NM_001407974.1:c.787+1012T>C intron variant NM_001407975.1:c.787+1012T>C intron variant NM_001407976.1:c.787+1012T>C intron variant NM_001407977.1:c.787+1012T>C intron variant NM_001407978.1:c.787+1012T>C intron variant NM_001407979.1:c.787+1012T>C intron variant NM_001407980.1:c.787+1012T>C intron variant NM_001407981.1:c.787+1012T>C intron variant NM_001407982.1:c.787+1012T>C intron variant NM_001407983.1:c.787+1012T>C intron variant NM_001407984.1:c.784+1012T>C intron variant NM_001407985.1:c.784+1012T>C intron variant NM_001407986.1:c.784+1012T>C intron variant NM_001407990.1:c.787+1012T>C intron variant NM_001407991.1:c.784+1012T>C intron variant NM_001407992.1:c.784+1012T>C intron variant NM_001407993.1:c.787+1012T>C intron variant NM_001408392.1:c.784+1012T>C intron variant NM_001408396.1:c.784+1012T>C intron variant NM_001408397.1:c.784+1012T>C intron variant NM_001408398.1:c.784+1012T>C intron variant NM_001408399.1:c.784+1012T>C intron variant NM_001408400.1:c.784+1012T>C intron variant NM_001408401.1:c.784+1012T>C intron variant NM_001408402.1:c.784+1012T>C intron variant NM_001408403.1:c.787+1012T>C intron variant NM_001408404.1:c.787+1012T>C intron variant NM_001408406.1:c.790+1009T>C intron variant NM_001408407.1:c.784+1012T>C intron variant NM_001408408.1:c.778+1012T>C intron variant NM_001408409.1:c.709+1012T>C intron variant NM_001408410.1:c.646+1012T>C intron variant NM_001408411.1:c.709+1012T>C intron variant NM_001408412.1:c.709+1012T>C intron variant NM_001408413.1:c.706+1012T>C intron variant NM_001408414.1:c.709+1012T>C intron variant NM_001408415.1:c.709+1012T>C intron variant NM_001408416.1:c.706+1012T>C intron variant NM_001408418.1:c.670+2114T>C intron variant NM_001408419.1:c.670+2114T>C intron variant NM_001408420.1:c.670+2114T>C intron variant NM_001408421.1:c.667+2114T>C intron variant NM_001408422.1:c.670+2114T>C intron variant NM_001408423.1:c.670+2114T>C intron variant NM_001408424.1:c.667+2114T>C intron variant NM_001408425.1:c.664+1012T>C intron variant NM_001408426.1:c.664+1012T>C intron variant NM_001408427.1:c.664+1012T>C intron variant NM_001408428.1:c.664+1012T>C intron variant NM_001408429.1:c.664+1012T>C intron variant NM_001408430.1:c.664+1012T>C intron variant NM_001408431.1:c.667+2114T>C intron variant NM_001408432.1:c.661+1012T>C intron variant NM_001408433.1:c.661+1012T>C intron variant NM_001408434.1:c.661+1012T>C intron variant NM_001408435.1:c.661+1012T>C intron variant NM_001408436.1:c.664+1012T>C intron variant NM_001408437.1:c.664+1012T>C intron variant NM_001408438.1:c.664+1012T>C intron variant NM_001408439.1:c.664+1012T>C intron variant NM_001408440.1:c.664+1012T>C intron variant NM_001408441.1:c.664+1012T>C intron variant NM_001408442.1:c.664+1012T>C intron variant NM_001408443.1:c.664+1012T>C intron variant NM_001408444.1:c.664+1012T>C intron variant NM_001408445.1:c.661+1012T>C intron variant NM_001408446.1:c.661+1012T>C intron variant NM_001408447.1:c.661+1012T>C intron variant NM_001408448.1:c.661+1012T>C intron variant NM_001408450.1:c.661+1012T>C intron variant NM_001408451.1:c.652+1012T>C intron variant NM_001408452.1:c.646+1012T>C intron variant NM_001408453.1:c.646+1012T>C intron variant NM_001408454.1:c.646+1012T>C intron variant NM_001408455.1:c.646+1012T>C intron variant NM_001408456.1:c.646+1012T>C intron variant NM_001408457.1:c.646+1012T>C intron variant NM_001408458.1:c.646+1012T>C intron variant NM_001408459.1:c.646+1012T>C intron variant NM_001408460.1:c.646+1012T>C intron variant NM_001408461.1:c.646+1012T>C intron variant NM_001408462.1:c.643+1012T>C intron variant NM_001408463.1:c.643+1012T>C intron variant NM_001408464.1:c.643+1012T>C intron variant NM_001408465.1:c.643+1012T>C intron variant NM_001408466.1:c.646+1012T>C intron variant NM_001408467.1:c.646+1012T>C intron variant NM_001408468.1:c.643+1012T>C intron variant NM_001408469.1:c.646+1012T>C intron variant NM_001408470.1:c.643+1012T>C intron variant NM_001408472.1:c.787+1012T>C intron variant NM_001408473.1:c.784+1012T>C intron variant NM_001408474.1:c.586+1012T>C intron variant NM_001408475.1:c.583+1012T>C intron variant NM_001408476.1:c.586+1012T>C intron variant NM_001408478.1:c.577+1012T>C intron variant NM_001408479.1:c.577+1012T>C intron variant NM_001408480.1:c.577+1012T>C intron variant NM_001408481.1:c.577+1012T>C intron variant NM_001408482.1:c.577+1012T>C intron variant NM_001408483.1:c.577+1012T>C intron variant NM_001408484.1:c.577+1012T>C intron variant NM_001408485.1:c.577+1012T>C intron variant NM_001408489.1:c.577+1012T>C intron variant NM_001408490.1:c.574+1012T>C intron variant NM_001408491.1:c.574+1012T>C intron variant NM_001408492.1:c.577+1012T>C intron variant NM_001408493.1:c.574+1012T>C intron variant NM_001408494.1:c.548-2700T>C intron variant NM_001408495.1:c.545-2700T>C intron variant NM_001408496.1:c.523+1012T>C intron variant NM_001408497.1:c.523+1012T>C intron variant NM_001408498.1:c.523+1012T>C intron variant NM_001408499.1:c.523+1012T>C intron variant NM_001408500.1:c.523+1012T>C intron variant NM_001408501.1:c.523+1012T>C intron variant NM_001408502.1:c.454+1012T>C intron variant NM_001408503.1:c.520+1012T>C intron variant NM_001408504.1:c.520+1012T>C intron variant NM_001408505.1:c.520+1012T>C intron variant NM_001408506.1:c.460+2114T>C intron variant NM_001408507.1:c.460+2114T>C intron variant NM_001408508.1:c.451+1012T>C intron variant NM_001408509.1:c.451+1012T>C intron variant NM_001408510.1:c.406+1012T>C intron variant NM_001408511.1:c.404-2700T>C intron variant NM_001408512.1:c.283+1012T>C intron variant NM_001408513.1:c.577+1012T>C intron variant NM_001408514.1:c.577+1012T>C intron variant NM_007297.4:c.1658T>C NP_009228.2:p.Ile553Thr missense NM_007298.4:c.787+1012T>C intron variant NM_007299.4:c.787+1012T>C intron variant NM_007300.4:c.1799T>C NP_009231.2:p.Ile600Thr missense NR_027676.1:n.1935T>C NC_000017.11:g.43093732A>G NC_000017.10:g.41245749A>G NG_005905.2:g.124252T>C LRG_292:g.124252T>C LRG_292t1:c.1799T>C LRG_292p1:p.Ile600Thr - Protein change
- I600T, I553T, I488T, I597T, I473T, I512T, I529T, I559T, I574T, I599T, I304T, I472T, I511T, I530T, I533T, I558T, I573T, I432T, I489T, I532T, I552T
- Other names
- -
- Canonical SPDI
- NC_000017.11:43093731:A:G
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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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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 (3) |
criteria provided, conflicting classifications
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Sep 4, 2023 | RCV000568135.11 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Jan 9, 2024 | RCV000699677.6 | |
Uncertain significance (1) |
criteria provided, single submitter
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Oct 2, 2023 | RCV003999527.2 | |
Likely benign (1) |
criteria provided, single submitter
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Jul 31, 2024 | RCV004596266.1 |
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. |
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Likely benign
(Mar 23, 2023)
|
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: SCV003849728.1
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
|
Comment:
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
|
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Uncertain significance
(Jan 09, 2024)
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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: SCV000828400.4
First in ClinVar: Oct 10, 2018 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 600 of the BRCA1 protein (p.Ile600Thr). … (more)
This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 600 of the BRCA1 protein (p.Ile600Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with breast and ovarian cancer (PMID: 18273839). ClinVar contains an entry for this variant (Variation ID: 479261). 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 with a negative predictive value of 95%. 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. (less)
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Uncertain significance
(Sep 04, 2023)
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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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Color Diagnostics, LLC DBA Color Health
Accession: SCV002053340.2
First in ClinVar: Jan 08, 2022 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces isoleucine with threonine at codon 600 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
This missense variant replaces isoleucine with threonine at codon 600 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in a suspected hereditary breast and ovarian cancer family (PMID: 18273839). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
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Uncertain Significance
(Oct 02, 2023)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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All of Us Research Program, National Institutes of Health
Accession: SCV004818281.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
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Comment:
This missense variant replaces isoleucine with threonine at codon 600 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
This missense variant replaces isoleucine with threonine at codon 600 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in a suspected hereditary breast and ovarian cancer family (PMID: 18273839). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. (less)
Number of individuals with the variant: 1
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Uncertain significance
(May 19, 2021)
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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: SCV000661129.5
First in ClinVar: Jan 01, 2018 Last updated: May 01, 2024 |
Comment:
The p.I600T variant (also known as c.1799T>C), located in coding exon 9 of the BRCA1 gene, results from a T to C substitution at nucleotide … (more)
The p.I600T variant (also known as c.1799T>C), located in coding exon 9 of the BRCA1 gene, results from a T to C substitution at nucleotide position 1799. The isoleucine at codon 600 is replaced by threonine, 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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Likely benign
(Jul 31, 2024)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV005090356.1
First in ClinVar: Aug 04, 2024 Last updated: Aug 04, 2024 |
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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 |
Unclassified variants identified in BRCA1 exon 11: Consequences on splicing. | Anczuków O | Genes, chromosomes & cancer | 2008 | PMID: 18273839 |
Text-mined citations for rs398122643 ...
HelpRecord last updated Oct 08, 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.