ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.1745C>T (p.Thr582Met)
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(6); 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.1745C>T (p.Thr582Met)
Variation ID: 185698 Accession: VCV000185698.29
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43093786 (GRCh38) [ NCBI UCSC ] 17: 41245803 (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 10, 2018 May 1, 2024 Dec 15, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.1745C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Thr582Met missense NM_001407571.1:c.1532C>T NP_001394500.1:p.Thr511Met missense NM_001407581.1:c.1745C>T NP_001394510.1:p.Thr582Met missense NM_001407582.1:c.1745C>T NP_001394511.1:p.Thr582Met missense NM_001407583.1:c.1745C>T NP_001394512.1:p.Thr582Met missense NM_001407585.1:c.1745C>T NP_001394514.1:p.Thr582Met missense NM_001407587.1:c.1742C>T NP_001394516.1:p.Thr581Met missense NM_001407590.1:c.1742C>T NP_001394519.1:p.Thr581Met missense NM_001407591.1:c.1742C>T NP_001394520.1:p.Thr581Met missense NM_001407593.1:c.1745C>T NP_001394522.1:p.Thr582Met missense NM_001407594.1:c.1745C>T NP_001394523.1:p.Thr582Met missense NM_001407596.1:c.1745C>T NP_001394525.1:p.Thr582Met missense NM_001407597.1:c.1745C>T NP_001394526.1:p.Thr582Met missense NM_001407598.1:c.1745C>T NP_001394527.1:p.Thr582Met missense NM_001407602.1:c.1745C>T NP_001394531.1:p.Thr582Met missense NM_001407603.1:c.1745C>T NP_001394532.1:p.Thr582Met missense NM_001407605.1:c.1745C>T NP_001394534.1:p.Thr582Met missense NM_001407610.1:c.1742C>T NP_001394539.1:p.Thr581Met missense NM_001407611.1:c.1742C>T NP_001394540.1:p.Thr581Met missense NM_001407612.1:c.1742C>T NP_001394541.1:p.Thr581Met missense NM_001407613.1:c.1742C>T NP_001394542.1:p.Thr581Met missense NM_001407614.1:c.1742C>T NP_001394543.1:p.Thr581Met missense NM_001407615.1:c.1742C>T NP_001394544.1:p.Thr581Met missense NM_001407616.1:c.1745C>T NP_001394545.1:p.Thr582Met missense NM_001407617.1:c.1745C>T NP_001394546.1:p.Thr582Met missense NM_001407618.1:c.1745C>T NP_001394547.1:p.Thr582Met missense NM_001407619.1:c.1745C>T NP_001394548.1:p.Thr582Met missense NM_001407620.1:c.1745C>T NP_001394549.1:p.Thr582Met missense NM_001407621.1:c.1745C>T NP_001394550.1:p.Thr582Met missense NM_001407622.1:c.1745C>T NP_001394551.1:p.Thr582Met missense NM_001407623.1:c.1745C>T NP_001394552.1:p.Thr582Met missense NM_001407624.1:c.1745C>T NP_001394553.1:p.Thr582Met missense NM_001407625.1:c.1745C>T NP_001394554.1:p.Thr582Met missense NM_001407626.1:c.1745C>T NP_001394555.1:p.Thr582Met missense NM_001407627.1:c.1742C>T NP_001394556.1:p.Thr581Met missense NM_001407628.1:c.1742C>T NP_001394557.1:p.Thr581Met missense NM_001407629.1:c.1742C>T NP_001394558.1:p.Thr581Met missense NM_001407630.1:c.1742C>T NP_001394559.1:p.Thr581Met missense NM_001407631.1:c.1742C>T NP_001394560.1:p.Thr581Met missense NM_001407632.1:c.1742C>T NP_001394561.1:p.Thr581Met missense NM_001407633.1:c.1742C>T NP_001394562.1:p.Thr581Met missense NM_001407634.1:c.1742C>T NP_001394563.1:p.Thr581Met missense NM_001407635.1:c.1742C>T NP_001394564.1:p.Thr581Met missense NM_001407636.1:c.1742C>T NP_001394565.1:p.Thr581Met missense NM_001407637.1:c.1742C>T NP_001394566.1:p.Thr581Met missense NM_001407638.1:c.1742C>T NP_001394567.1:p.Thr581Met missense NM_001407639.1:c.1745C>T NP_001394568.1:p.Thr582Met missense NM_001407640.1:c.1745C>T NP_001394569.1:p.Thr582Met missense NM_001407641.1:c.1745C>T NP_001394570.1:p.Thr582Met missense NM_001407642.1:c.1745C>T NP_001394571.1:p.Thr582Met missense NM_001407644.1:c.1742C>T NP_001394573.1:p.Thr581Met missense NM_001407645.1:c.1742C>T NP_001394574.1:p.Thr581Met missense NM_001407646.1:c.1736C>T NP_001394575.1:p.Thr579Met missense NM_001407647.1:c.1736C>T NP_001394576.1:p.Thr579Met missense NM_001407648.1:c.1622C>T NP_001394577.1:p.Thr541Met missense NM_001407649.1:c.1619C>T NP_001394578.1:p.Thr540Met missense NM_001407652.1:c.1745C>T NP_001394581.1:p.Thr582Met missense NM_001407653.1:c.1667C>T NP_001394582.1:p.Thr556Met missense NM_001407654.1:c.1667C>T NP_001394583.1:p.Thr556Met missense NM_001407655.1:c.1667C>T NP_001394584.1:p.Thr556Met missense NM_001407656.1:c.1667C>T NP_001394585.1:p.Thr556Met missense NM_001407657.1:c.1667C>T NP_001394586.1:p.Thr556Met missense NM_001407658.1:c.1667C>T NP_001394587.1:p.Thr556Met missense NM_001407659.1:c.1664C>T NP_001394588.1:p.Thr555Met missense NM_001407660.1:c.1664C>T NP_001394589.1:p.Thr555Met missense NM_001407661.1:c.1664C>T NP_001394590.1:p.Thr555Met missense NM_001407662.1:c.1664C>T NP_001394591.1:p.Thr555Met missense NM_001407663.1:c.1667C>T NP_001394592.1:p.Thr556Met missense NM_001407664.1:c.1622C>T NP_001394593.1:p.Thr541Met missense NM_001407665.1:c.1622C>T NP_001394594.1:p.Thr541Met missense NM_001407666.1:c.1622C>T NP_001394595.1:p.Thr541Met missense NM_001407667.1:c.1622C>T NP_001394596.1:p.Thr541Met missense NM_001407668.1:c.1622C>T NP_001394597.1:p.Thr541Met missense NM_001407669.1:c.1622C>T NP_001394598.1:p.Thr541Met missense NM_001407670.1:c.1619C>T NP_001394599.1:p.Thr540Met missense NM_001407671.1:c.1619C>T NP_001394600.1:p.Thr540Met missense NM_001407672.1:c.1619C>T NP_001394601.1:p.Thr540Met missense NM_001407673.1:c.1619C>T NP_001394602.1:p.Thr540Met missense NM_001407674.1:c.1622C>T NP_001394603.1:p.Thr541Met missense NM_001407675.1:c.1622C>T NP_001394604.1:p.Thr541Met missense NM_001407676.1:c.1622C>T NP_001394605.1:p.Thr541Met missense NM_001407677.1:c.1622C>T NP_001394606.1:p.Thr541Met missense NM_001407678.1:c.1622C>T NP_001394607.1:p.Thr541Met missense NM_001407679.1:c.1622C>T NP_001394608.1:p.Thr541Met missense NM_001407680.1:c.1622C>T NP_001394609.1:p.Thr541Met missense NM_001407681.1:c.1622C>T NP_001394610.1:p.Thr541Met missense NM_001407682.1:c.1622C>T NP_001394611.1:p.Thr541Met missense NM_001407683.1:c.1622C>T NP_001394612.1:p.Thr541Met missense NM_001407684.1:c.1745C>T NP_001394613.1:p.Thr582Met missense NM_001407685.1:c.1619C>T NP_001394614.1:p.Thr540Met missense NM_001407686.1:c.1619C>T NP_001394615.1:p.Thr540Met missense NM_001407687.1:c.1619C>T NP_001394616.1:p.Thr540Met missense NM_001407688.1:c.1619C>T NP_001394617.1:p.Thr540Met missense NM_001407689.1:c.1619C>T NP_001394618.1:p.Thr540Met missense NM_001407690.1:c.1619C>T NP_001394619.1:p.Thr540Met missense NM_001407691.1:c.1619C>T NP_001394620.1:p.Thr540Met missense NM_001407692.1:c.1604C>T NP_001394621.1:p.Thr535Met missense NM_001407694.1:c.1604C>T NP_001394623.1:p.Thr535Met missense NM_001407695.1:c.1604C>T NP_001394624.1:p.Thr535Met missense NM_001407696.1:c.1604C>T NP_001394625.1:p.Thr535Met missense NM_001407697.1:c.1604C>T NP_001394626.1:p.Thr535Met missense NM_001407698.1:c.1604C>T NP_001394627.1:p.Thr535Met missense NM_001407724.1:c.1604C>T NP_001394653.1:p.Thr535Met missense NM_001407725.1:c.1604C>T NP_001394654.1:p.Thr535Met missense NM_001407726.1:c.1604C>T NP_001394655.1:p.Thr535Met missense NM_001407727.1:c.1604C>T NP_001394656.1:p.Thr535Met missense NM_001407728.1:c.1604C>T NP_001394657.1:p.Thr535Met missense NM_001407729.1:c.1604C>T NP_001394658.1:p.Thr535Met missense NM_001407730.1:c.1604C>T NP_001394659.1:p.Thr535Met missense NM_001407731.1:c.1604C>T NP_001394660.1:p.Thr535Met missense NM_001407732.1:c.1604C>T NP_001394661.1:p.Thr535Met missense NM_001407733.1:c.1604C>T NP_001394662.1:p.Thr535Met missense NM_001407734.1:c.1604C>T NP_001394663.1:p.Thr535Met missense NM_001407735.1:c.1604C>T NP_001394664.1:p.Thr535Met missense NM_001407736.1:c.1604C>T NP_001394665.1:p.Thr535Met missense NM_001407737.1:c.1604C>T NP_001394666.1:p.Thr535Met missense NM_001407738.1:c.1604C>T NP_001394667.1:p.Thr535Met missense NM_001407739.1:c.1604C>T NP_001394668.1:p.Thr535Met missense NM_001407740.1:c.1601C>T NP_001394669.1:p.Thr534Met missense NM_001407741.1:c.1601C>T NP_001394670.1:p.Thr534Met missense NM_001407742.1:c.1601C>T NP_001394671.1:p.Thr534Met missense NM_001407743.1:c.1601C>T NP_001394672.1:p.Thr534Met missense NM_001407744.1:c.1601C>T NP_001394673.1:p.Thr534Met missense NM_001407745.1:c.1601C>T NP_001394674.1:p.Thr534Met missense NM_001407746.1:c.1601C>T NP_001394675.1:p.Thr534Met missense NM_001407747.1:c.1601C>T NP_001394676.1:p.Thr534Met missense NM_001407748.1:c.1601C>T NP_001394677.1:p.Thr534Met missense NM_001407749.1:c.1601C>T NP_001394678.1:p.Thr534Met missense NM_001407750.1:c.1604C>T NP_001394679.1:p.Thr535Met missense NM_001407751.1:c.1604C>T NP_001394680.1:p.Thr535Met missense NM_001407752.1:c.1604C>T NP_001394681.1:p.Thr535Met missense NM_001407838.1:c.1601C>T NP_001394767.1:p.Thr534Met missense NM_001407839.1:c.1601C>T NP_001394768.1:p.Thr534Met missense NM_001407841.1:c.1601C>T NP_001394770.1:p.Thr534Met missense NM_001407842.1:c.1601C>T NP_001394771.1:p.Thr534Met missense NM_001407843.1:c.1601C>T NP_001394772.1:p.Thr534Met missense NM_001407844.1:c.1601C>T NP_001394773.1:p.Thr534Met missense NM_001407845.1:c.1601C>T NP_001394774.1:p.Thr534Met missense NM_001407846.1:c.1601C>T NP_001394775.1:p.Thr534Met missense NM_001407847.1:c.1601C>T NP_001394776.1:p.Thr534Met missense NM_001407848.1:c.1601C>T NP_001394777.1:p.Thr534Met missense NM_001407849.1:c.1601C>T NP_001394778.1:p.Thr534Met missense NM_001407850.1:c.1604C>T NP_001394779.1:p.Thr535Met missense NM_001407851.1:c.1604C>T NP_001394780.1:p.Thr535Met missense NM_001407852.1:c.1604C>T NP_001394781.1:p.Thr535Met missense NM_001407853.1:c.1532C>T NP_001394782.1:p.Thr511Met missense NM_001407854.1:c.1745C>T NP_001394783.1:p.Thr582Met missense NM_001407858.1:c.1745C>T NP_001394787.1:p.Thr582Met missense NM_001407859.1:c.1745C>T NP_001394788.1:p.Thr582Met missense NM_001407860.1:c.1742C>T NP_001394789.1:p.Thr581Met missense NM_001407861.1:c.1742C>T NP_001394790.1:p.Thr581Met missense NM_001407862.1:c.1544C>T NP_001394791.1:p.Thr515Met missense NM_001407863.1:c.1622C>T NP_001394792.1:p.Thr541Met missense NM_001407874.1:c.1541C>T NP_001394803.1:p.Thr514Met missense NM_001407875.1:c.1541C>T NP_001394804.1:p.Thr514Met missense NM_001407879.1:c.1535C>T NP_001394808.1:p.Thr512Met missense NM_001407881.1:c.1535C>T NP_001394810.1:p.Thr512Met missense NM_001407882.1:c.1535C>T NP_001394811.1:p.Thr512Met missense NM_001407884.1:c.1535C>T NP_001394813.1:p.Thr512Met missense NM_001407885.1:c.1535C>T NP_001394814.1:p.Thr512Met missense NM_001407886.1:c.1535C>T NP_001394815.1:p.Thr512Met missense NM_001407887.1:c.1535C>T NP_001394816.1:p.Thr512Met missense NM_001407889.1:c.1535C>T NP_001394818.1:p.Thr512Met missense NM_001407894.1:c.1532C>T NP_001394823.1:p.Thr511Met missense NM_001407895.1:c.1532C>T NP_001394824.1:p.Thr511Met missense NM_001407896.1:c.1532C>T NP_001394825.1:p.Thr511Met missense NM_001407897.1:c.1532C>T NP_001394826.1:p.Thr511Met missense NM_001407898.1:c.1532C>T NP_001394827.1:p.Thr511Met missense NM_001407899.1:c.1532C>T NP_001394828.1:p.Thr511Met missense NM_001407900.1:c.1535C>T NP_001394829.1:p.Thr512Met missense NM_001407902.1:c.1535C>T NP_001394831.1:p.Thr512Met missense NM_001407904.1:c.1535C>T NP_001394833.1:p.Thr512Met missense NM_001407906.1:c.1535C>T NP_001394835.1:p.Thr512Met missense NM_001407907.1:c.1535C>T NP_001394836.1:p.Thr512Met missense NM_001407908.1:c.1535C>T NP_001394837.1:p.Thr512Met missense NM_001407909.1:c.1535C>T NP_001394838.1:p.Thr512Met missense NM_001407910.1:c.1535C>T NP_001394839.1:p.Thr512Met missense NM_001407915.1:c.1532C>T NP_001394844.1:p.Thr511Met missense NM_001407916.1:c.1532C>T NP_001394845.1:p.Thr511Met missense NM_001407917.1:c.1532C>T NP_001394846.1:p.Thr511Met missense NM_001407918.1:c.1532C>T NP_001394847.1:p.Thr511Met missense NM_001407919.1:c.1622C>T NP_001394848.1:p.Thr541Met missense NM_001407920.1:c.1481C>T NP_001394849.1:p.Thr494Met missense NM_001407921.1:c.1481C>T NP_001394850.1:p.Thr494Met missense NM_001407922.1:c.1481C>T NP_001394851.1:p.Thr494Met missense NM_001407923.1:c.1481C>T NP_001394852.1:p.Thr494Met missense NM_001407924.1:c.1481C>T NP_001394853.1:p.Thr494Met missense NM_001407925.1:c.1481C>T NP_001394854.1:p.Thr494Met missense NM_001407926.1:c.1481C>T NP_001394855.1:p.Thr494Met missense NM_001407927.1:c.1481C>T NP_001394856.1:p.Thr494Met missense NM_001407928.1:c.1481C>T NP_001394857.1:p.Thr494Met missense NM_001407929.1:c.1481C>T NP_001394858.1:p.Thr494Met missense NM_001407930.1:c.1478C>T NP_001394859.1:p.Thr493Met missense NM_001407931.1:c.1478C>T NP_001394860.1:p.Thr493Met missense NM_001407932.1:c.1478C>T NP_001394861.1:p.Thr493Met missense NM_001407933.1:c.1481C>T NP_001394862.1:p.Thr494Met missense NM_001407934.1:c.1478C>T NP_001394863.1:p.Thr493Met missense NM_001407935.1:c.1481C>T NP_001394864.1:p.Thr494Met missense NM_001407936.1:c.1478C>T NP_001394865.1:p.Thr493Met missense NM_001407937.1:c.1622C>T NP_001394866.1:p.Thr541Met missense NM_001407938.1:c.1622C>T NP_001394867.1:p.Thr541Met missense NM_001407939.1:c.1622C>T NP_001394868.1:p.Thr541Met missense NM_001407940.1:c.1619C>T NP_001394869.1:p.Thr540Met missense NM_001407941.1:c.1619C>T NP_001394870.1:p.Thr540Met missense NM_001407942.1:c.1604C>T NP_001394871.1:p.Thr535Met missense NM_001407943.1:c.1601C>T NP_001394872.1:p.Thr534Met missense NM_001407944.1:c.1604C>T NP_001394873.1:p.Thr535Met missense NM_001407945.1:c.1604C>T NP_001394874.1:p.Thr535Met missense NM_001407946.1:c.1412C>T NP_001394875.1:p.Thr471Met missense NM_001407947.1:c.1412C>T NP_001394876.1:p.Thr471Met missense NM_001407948.1:c.1412C>T NP_001394877.1:p.Thr471Met missense NM_001407949.1:c.1412C>T NP_001394878.1:p.Thr471Met missense NM_001407950.1:c.1412C>T NP_001394879.1:p.Thr471Met missense NM_001407951.1:c.1412C>T NP_001394880.1:p.Thr471Met missense NM_001407952.1:c.1412C>T NP_001394881.1:p.Thr471Met missense NM_001407953.1:c.1412C>T NP_001394882.1:p.Thr471Met missense NM_001407954.1:c.1409C>T NP_001394883.1:p.Thr470Met missense NM_001407955.1:c.1409C>T NP_001394884.1:p.Thr470Met missense NM_001407956.1:c.1409C>T NP_001394885.1:p.Thr470Met missense NM_001407957.1:c.1412C>T NP_001394886.1:p.Thr471Met missense NM_001407958.1:c.1409C>T NP_001394887.1:p.Thr470Met missense NM_001407959.1:c.1364C>T NP_001394888.1:p.Thr455Met missense NM_001407960.1:c.1364C>T NP_001394889.1:p.Thr455Met missense NM_001407962.1:c.1361C>T NP_001394891.1:p.Thr454Met missense NM_001407963.1:c.1364C>T NP_001394892.1:p.Thr455Met missense NM_001407964.1:c.1601C>T NP_001394893.1:p.Thr534Met missense NM_001407965.1:c.1241C>T NP_001394894.1:p.Thr414Met missense NM_001407966.1:c.857C>T NP_001394895.1:p.Thr286Met missense NM_001407967.1:c.857C>T NP_001394896.1:p.Thr286Met missense NM_001407968.1:c.787+958C>T intron variant NM_001407969.1:c.787+958C>T intron variant NM_001407970.1:c.787+958C>T intron variant NM_001407971.1:c.787+958C>T intron variant NM_001407972.1:c.784+958C>T intron variant NM_001407973.1:c.787+958C>T intron variant NM_001407974.1:c.787+958C>T intron variant NM_001407975.1:c.787+958C>T intron variant NM_001407976.1:c.787+958C>T intron variant NM_001407977.1:c.787+958C>T intron variant NM_001407978.1:c.787+958C>T intron variant NM_001407979.1:c.787+958C>T intron variant NM_001407980.1:c.787+958C>T intron variant NM_001407981.1:c.787+958C>T intron variant NM_001407982.1:c.787+958C>T intron variant NM_001407983.1:c.787+958C>T intron variant NM_001407984.1:c.784+958C>T intron variant NM_001407985.1:c.784+958C>T intron variant NM_001407986.1:c.784+958C>T intron variant NM_001407990.1:c.787+958C>T intron variant NM_001407991.1:c.784+958C>T intron variant NM_001407992.1:c.784+958C>T intron variant NM_001407993.1:c.787+958C>T intron variant NM_001408392.1:c.784+958C>T intron variant NM_001408396.1:c.784+958C>T intron variant NM_001408397.1:c.784+958C>T intron variant NM_001408398.1:c.784+958C>T intron variant NM_001408399.1:c.784+958C>T intron variant NM_001408400.1:c.784+958C>T intron variant NM_001408401.1:c.784+958C>T intron variant NM_001408402.1:c.784+958C>T intron variant NM_001408403.1:c.787+958C>T intron variant NM_001408404.1:c.787+958C>T intron variant NM_001408406.1:c.790+955C>T intron variant NM_001408407.1:c.784+958C>T intron variant NM_001408408.1:c.778+958C>T intron variant NM_001408409.1:c.709+958C>T intron variant NM_001408410.1:c.646+958C>T intron variant NM_001408411.1:c.709+958C>T intron variant NM_001408412.1:c.709+958C>T intron variant NM_001408413.1:c.706+958C>T intron variant NM_001408414.1:c.709+958C>T intron variant NM_001408415.1:c.709+958C>T intron variant NM_001408416.1:c.706+958C>T intron variant NM_001408418.1:c.670+2060C>T intron variant NM_001408419.1:c.670+2060C>T intron variant NM_001408420.1:c.670+2060C>T intron variant NM_001408421.1:c.667+2060C>T intron variant NM_001408422.1:c.670+2060C>T intron variant NM_001408423.1:c.670+2060C>T intron variant NM_001408424.1:c.667+2060C>T intron variant NM_001408425.1:c.664+958C>T intron variant NM_001408426.1:c.664+958C>T intron variant NM_001408427.1:c.664+958C>T intron variant NM_001408428.1:c.664+958C>T intron variant NM_001408429.1:c.664+958C>T intron variant NM_001408430.1:c.664+958C>T intron variant NM_001408431.1:c.667+2060C>T intron variant NM_001408432.1:c.661+958C>T intron variant NM_001408433.1:c.661+958C>T intron variant NM_001408434.1:c.661+958C>T intron variant NM_001408435.1:c.661+958C>T intron variant NM_001408436.1:c.664+958C>T intron variant NM_001408437.1:c.664+958C>T intron variant NM_001408438.1:c.664+958C>T intron variant NM_001408439.1:c.664+958C>T intron variant NM_001408440.1:c.664+958C>T intron variant NM_001408441.1:c.664+958C>T intron variant NM_001408442.1:c.664+958C>T intron variant NM_001408443.1:c.664+958C>T intron variant NM_001408444.1:c.664+958C>T intron variant NM_001408445.1:c.661+958C>T intron variant NM_001408446.1:c.661+958C>T intron variant NM_001408447.1:c.661+958C>T intron variant NM_001408448.1:c.661+958C>T intron variant NM_001408450.1:c.661+958C>T intron variant NM_001408451.1:c.652+958C>T intron variant NM_001408452.1:c.646+958C>T intron variant NM_001408453.1:c.646+958C>T intron variant NM_001408454.1:c.646+958C>T intron variant NM_001408455.1:c.646+958C>T intron variant NM_001408456.1:c.646+958C>T intron variant NM_001408457.1:c.646+958C>T intron variant NM_001408458.1:c.646+958C>T intron variant NM_001408459.1:c.646+958C>T intron variant NM_001408460.1:c.646+958C>T intron variant NM_001408461.1:c.646+958C>T intron variant NM_001408462.1:c.643+958C>T intron variant NM_001408463.1:c.643+958C>T intron variant NM_001408464.1:c.643+958C>T intron variant NM_001408465.1:c.643+958C>T intron variant NM_001408466.1:c.646+958C>T intron variant NM_001408467.1:c.646+958C>T intron variant NM_001408468.1:c.643+958C>T intron variant NM_001408469.1:c.646+958C>T intron variant NM_001408470.1:c.643+958C>T intron variant NM_001408472.1:c.787+958C>T intron variant NM_001408473.1:c.784+958C>T intron variant NM_001408474.1:c.586+958C>T intron variant NM_001408475.1:c.583+958C>T intron variant NM_001408476.1:c.586+958C>T intron variant NM_001408478.1:c.577+958C>T intron variant NM_001408479.1:c.577+958C>T intron variant NM_001408480.1:c.577+958C>T intron variant NM_001408481.1:c.577+958C>T intron variant NM_001408482.1:c.577+958C>T intron variant NM_001408483.1:c.577+958C>T intron variant NM_001408484.1:c.577+958C>T intron variant NM_001408485.1:c.577+958C>T intron variant NM_001408489.1:c.577+958C>T intron variant NM_001408490.1:c.574+958C>T intron variant NM_001408491.1:c.574+958C>T intron variant NM_001408492.1:c.577+958C>T intron variant NM_001408493.1:c.574+958C>T intron variant NM_001408494.1:c.548-2754C>T intron variant NM_001408495.1:c.545-2754C>T intron variant NM_001408496.1:c.523+958C>T intron variant NM_001408497.1:c.523+958C>T intron variant NM_001408498.1:c.523+958C>T intron variant NM_001408499.1:c.523+958C>T intron variant NM_001408500.1:c.523+958C>T intron variant NM_001408501.1:c.523+958C>T intron variant NM_001408502.1:c.454+958C>T intron variant NM_001408503.1:c.520+958C>T intron variant NM_001408504.1:c.520+958C>T intron variant NM_001408505.1:c.520+958C>T intron variant NM_001408506.1:c.460+2060C>T intron variant NM_001408507.1:c.460+2060C>T intron variant NM_001408508.1:c.451+958C>T intron variant NM_001408509.1:c.451+958C>T intron variant NM_001408510.1:c.406+958C>T intron variant NM_001408511.1:c.404-2754C>T intron variant NM_001408512.1:c.283+958C>T intron variant NM_001408513.1:c.577+958C>T intron variant NM_001408514.1:c.577+958C>T intron variant NM_007297.4:c.1604C>T NP_009228.2:p.Thr535Met missense NM_007298.4:c.787+958C>T intron variant NM_007299.4:c.787+958C>T intron variant NM_007300.4:c.1745C>T NP_009231.2:p.Thr582Met missense NR_027676.1:n.1881C>T NC_000017.11:g.43093786G>A NC_000017.10:g.41245803G>A NG_005905.2:g.124198C>T LRG_292:g.124198C>T LRG_292t1:c.1745C>T LRG_292p1:p.Thr582Met - Protein change
- T582M, T535M, T493M, T514M, T540M, T555M, T286M, T455M, T470M, T494M, T515M, T579M, T454M, T534M, T556M, T581M, T414M, T511M, T512M, T541M, T471M
- Other names
- -
- Canonical SPDI
- NC_000017.11:43093785:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
The Genome Aggregation Database (gnomAD) 0.00001
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 |
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 (4) |
criteria provided, conflicting classifications
|
Mar 23, 2023 | RCV000165167.16 | |
Likely benign (1) |
criteria provided, single submitter
|
Dec 15, 2023 | RCV000227464.12 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Oct 31, 2018 | RCV000764124.3 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Jun 2, 2022 | RCV001555644.5 | |
Uncertain significance (1) |
criteria provided, single submitter
|
Jan 13, 2018 | RCV001128034.5 |
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
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
University of Washington Department of Laboratory Medicine, University of Washington
Accession: SCV003851067.1
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).
|
|
Uncertain significance
(Nov 07, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000909365.4
First in ClinVar: May 19, 2019 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces threonine with methionine at codon 582 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure … (more)
This missense variant replaces threonine with methionine at codon 582 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in at least two individuals affected with breast and/or ovarian cancer and an unaffected individual (PMID: 27376475, 28364669, 30725392, 33471991). This variant has been identified in 1/31360 chromosomes 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
(Feb 09, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000215879.8
First in ClinVar: Mar 24, 2015 Last updated: May 01, 2024 |
Comment:
The p.T582M variant (also known as c.1745C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide … (more)
The p.T582M variant (also known as c.1745C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide position 1745. The threonine at codon 582 is replaced by methionine, an amino acid with similar properties. This alteration has been identified a patient from a breast/ovarian cancer testing cohort in Korea (Ryu JM et al. Breast, 2017 Jun;33:109-116). In addition, this alteration was reported in 1/200 Italian individuals selected for genetic testing of BRCA1/2 according to NCCN guidelines (Doddato G et al. Front Oncol. 2021 May;11:649435). 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
(Jan 13, 2018)
|
criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV001287418.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. (less)
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Uncertain significance
(Aug 01, 2018)
|
criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: yes
Allele origin:
germline
|
GeneKor MSA
Accession: SCV000821916.1
First in ClinVar: Oct 10, 2018 Last updated: Oct 10, 2018 |
|
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Uncertain significance
(Oct 31, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1 Pancreatic cancer, susceptibility to, 4 Fanconi anemia, complementation group S
Affected status: unknown
Allele origin:
unknown
|
Fulgent Genetics, Fulgent Genetics
Accession: SCV000895097.1
First in ClinVar: Mar 31, 2019 Last updated: Mar 31, 2019 |
|
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Uncertain significance
(Jun 02, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV001777093.3
First in ClinVar: Aug 13, 2021 Last updated: Mar 04, 2023 |
Comment:
Observed in individuals with a personal and/or family history of breast, ovarian, or pancreatic cancer (Schenkel 2016, Ryu 2017, So 2019, Doddato 2021); In silico … (more)
Observed in individuals with a personal and/or family history of breast, ovarian, or pancreatic cancer (Schenkel 2016, Ryu 2017, So 2019, Doddato 2021); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at a significant frequency in large population cohorts (gnomAD); Also known as 1864C>T; This variant is associated with the following publications: (PMID: 25011685, 31159747, 27376475, 26832770, 28364669, 31131967, 30725392, 15343273, 34026625) (less)
|
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Likely benign
(Dec 15, 2023)
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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: SCV000289751.9
First in ClinVar: Jul 01, 2016 Last updated: Feb 14, 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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Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes. | Doddato G | Frontiers in oncology | 2021 | PMID: 34026625 |
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. | Breast Cancer Association Consortium | The New England journal of medicine | 2021 | PMID: 33471991 |
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 |
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations. | Tsaousis GN | BMC cancer | 2019 | PMID: 31159747 |
Reinterpretation of BRCA1 and BRCA2 variants of uncertain significance in patients with hereditary breast/ovarian cancer using the ACMG/AMP 2015 guidelines. | So MK | Breast cancer (Tokyo, Japan) | 2019 | PMID: 30725392 |
Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea. | Ryu JM | Breast (Edinburgh, Scotland) | 2017 | PMID: 28364669 |
Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis. | Schenkel LC | The Journal of molecular diagnostics : JMD | 2016 | PMID: 27376475 |
Text-mined citations for rs786202386 ...
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.