ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.1768A>T (p.Ser590Cys)
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(3); 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.1768A>T (p.Ser590Cys)
Variation ID: 919950 Accession: VCV000919950.14
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43093763 (GRCh38) [ NCBI UCSC ] 17: 41245780 (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 Jun 22, 2020 May 1, 2024 Mar 23, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.1768A>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ser590Cys missense NM_001407571.1:c.1555A>T NP_001394500.1:p.Ser519Cys missense NM_001407581.1:c.1768A>T NP_001394510.1:p.Ser590Cys missense NM_001407582.1:c.1768A>T NP_001394511.1:p.Ser590Cys missense NM_001407583.1:c.1768A>T NP_001394512.1:p.Ser590Cys missense NM_001407585.1:c.1768A>T NP_001394514.1:p.Ser590Cys missense NM_001407587.1:c.1765A>T NP_001394516.1:p.Ser589Cys missense NM_001407590.1:c.1765A>T NP_001394519.1:p.Ser589Cys missense NM_001407591.1:c.1765A>T NP_001394520.1:p.Ser589Cys missense NM_001407593.1:c.1768A>T NP_001394522.1:p.Ser590Cys missense NM_001407594.1:c.1768A>T NP_001394523.1:p.Ser590Cys missense NM_001407596.1:c.1768A>T NP_001394525.1:p.Ser590Cys missense NM_001407597.1:c.1768A>T NP_001394526.1:p.Ser590Cys missense NM_001407598.1:c.1768A>T NP_001394527.1:p.Ser590Cys missense NM_001407602.1:c.1768A>T NP_001394531.1:p.Ser590Cys missense NM_001407603.1:c.1768A>T NP_001394532.1:p.Ser590Cys missense NM_001407605.1:c.1768A>T NP_001394534.1:p.Ser590Cys missense NM_001407610.1:c.1765A>T NP_001394539.1:p.Ser589Cys missense NM_001407611.1:c.1765A>T NP_001394540.1:p.Ser589Cys missense NM_001407612.1:c.1765A>T NP_001394541.1:p.Ser589Cys missense NM_001407613.1:c.1765A>T NP_001394542.1:p.Ser589Cys missense NM_001407614.1:c.1765A>T NP_001394543.1:p.Ser589Cys missense NM_001407615.1:c.1765A>T NP_001394544.1:p.Ser589Cys missense NM_001407616.1:c.1768A>T NP_001394545.1:p.Ser590Cys missense NM_001407617.1:c.1768A>T NP_001394546.1:p.Ser590Cys missense NM_001407618.1:c.1768A>T NP_001394547.1:p.Ser590Cys missense NM_001407619.1:c.1768A>T NP_001394548.1:p.Ser590Cys missense NM_001407620.1:c.1768A>T NP_001394549.1:p.Ser590Cys missense NM_001407621.1:c.1768A>T NP_001394550.1:p.Ser590Cys missense NM_001407622.1:c.1768A>T NP_001394551.1:p.Ser590Cys missense NM_001407623.1:c.1768A>T NP_001394552.1:p.Ser590Cys missense NM_001407624.1:c.1768A>T NP_001394553.1:p.Ser590Cys missense NM_001407625.1:c.1768A>T NP_001394554.1:p.Ser590Cys missense NM_001407626.1:c.1768A>T NP_001394555.1:p.Ser590Cys missense NM_001407627.1:c.1765A>T NP_001394556.1:p.Ser589Cys missense NM_001407628.1:c.1765A>T NP_001394557.1:p.Ser589Cys missense NM_001407629.1:c.1765A>T NP_001394558.1:p.Ser589Cys missense NM_001407630.1:c.1765A>T NP_001394559.1:p.Ser589Cys missense NM_001407631.1:c.1765A>T NP_001394560.1:p.Ser589Cys missense NM_001407632.1:c.1765A>T NP_001394561.1:p.Ser589Cys missense NM_001407633.1:c.1765A>T NP_001394562.1:p.Ser589Cys missense NM_001407634.1:c.1765A>T NP_001394563.1:p.Ser589Cys missense NM_001407635.1:c.1765A>T NP_001394564.1:p.Ser589Cys missense NM_001407636.1:c.1765A>T NP_001394565.1:p.Ser589Cys missense NM_001407637.1:c.1765A>T NP_001394566.1:p.Ser589Cys missense NM_001407638.1:c.1765A>T NP_001394567.1:p.Ser589Cys missense NM_001407639.1:c.1768A>T NP_001394568.1:p.Ser590Cys missense NM_001407640.1:c.1768A>T NP_001394569.1:p.Ser590Cys missense NM_001407641.1:c.1768A>T NP_001394570.1:p.Ser590Cys missense NM_001407642.1:c.1768A>T NP_001394571.1:p.Ser590Cys missense NM_001407644.1:c.1765A>T NP_001394573.1:p.Ser589Cys missense NM_001407645.1:c.1765A>T NP_001394574.1:p.Ser589Cys missense NM_001407646.1:c.1759A>T NP_001394575.1:p.Ser587Cys missense NM_001407647.1:c.1759A>T NP_001394576.1:p.Ser587Cys missense NM_001407648.1:c.1645A>T NP_001394577.1:p.Ser549Cys missense NM_001407649.1:c.1642A>T NP_001394578.1:p.Ser548Cys missense NM_001407652.1:c.1768A>T NP_001394581.1:p.Ser590Cys missense NM_001407653.1:c.1690A>T NP_001394582.1:p.Ser564Cys missense NM_001407654.1:c.1690A>T NP_001394583.1:p.Ser564Cys missense NM_001407655.1:c.1690A>T NP_001394584.1:p.Ser564Cys missense NM_001407656.1:c.1690A>T NP_001394585.1:p.Ser564Cys missense NM_001407657.1:c.1690A>T NP_001394586.1:p.Ser564Cys missense NM_001407658.1:c.1690A>T NP_001394587.1:p.Ser564Cys missense NM_001407659.1:c.1687A>T NP_001394588.1:p.Ser563Cys missense NM_001407660.1:c.1687A>T NP_001394589.1:p.Ser563Cys missense NM_001407661.1:c.1687A>T NP_001394590.1:p.Ser563Cys missense NM_001407662.1:c.1687A>T NP_001394591.1:p.Ser563Cys missense NM_001407663.1:c.1690A>T NP_001394592.1:p.Ser564Cys missense NM_001407664.1:c.1645A>T NP_001394593.1:p.Ser549Cys missense NM_001407665.1:c.1645A>T NP_001394594.1:p.Ser549Cys missense NM_001407666.1:c.1645A>T NP_001394595.1:p.Ser549Cys missense NM_001407667.1:c.1645A>T NP_001394596.1:p.Ser549Cys missense NM_001407668.1:c.1645A>T NP_001394597.1:p.Ser549Cys missense NM_001407669.1:c.1645A>T NP_001394598.1:p.Ser549Cys missense NM_001407670.1:c.1642A>T NP_001394599.1:p.Ser548Cys missense NM_001407671.1:c.1642A>T NP_001394600.1:p.Ser548Cys missense NM_001407672.1:c.1642A>T NP_001394601.1:p.Ser548Cys missense NM_001407673.1:c.1642A>T NP_001394602.1:p.Ser548Cys missense NM_001407674.1:c.1645A>T NP_001394603.1:p.Ser549Cys missense NM_001407675.1:c.1645A>T NP_001394604.1:p.Ser549Cys missense NM_001407676.1:c.1645A>T NP_001394605.1:p.Ser549Cys missense NM_001407677.1:c.1645A>T NP_001394606.1:p.Ser549Cys missense NM_001407678.1:c.1645A>T NP_001394607.1:p.Ser549Cys missense NM_001407679.1:c.1645A>T NP_001394608.1:p.Ser549Cys missense NM_001407680.1:c.1645A>T NP_001394609.1:p.Ser549Cys missense NM_001407681.1:c.1645A>T NP_001394610.1:p.Ser549Cys missense NM_001407682.1:c.1645A>T NP_001394611.1:p.Ser549Cys missense NM_001407683.1:c.1645A>T NP_001394612.1:p.Ser549Cys missense NM_001407684.1:c.1768A>T NP_001394613.1:p.Ser590Cys missense NM_001407685.1:c.1642A>T NP_001394614.1:p.Ser548Cys missense NM_001407686.1:c.1642A>T NP_001394615.1:p.Ser548Cys missense NM_001407687.1:c.1642A>T NP_001394616.1:p.Ser548Cys missense NM_001407688.1:c.1642A>T NP_001394617.1:p.Ser548Cys missense NM_001407689.1:c.1642A>T NP_001394618.1:p.Ser548Cys missense NM_001407690.1:c.1642A>T NP_001394619.1:p.Ser548Cys missense NM_001407691.1:c.1642A>T NP_001394620.1:p.Ser548Cys missense NM_001407692.1:c.1627A>T NP_001394621.1:p.Ser543Cys missense NM_001407694.1:c.1627A>T NP_001394623.1:p.Ser543Cys missense NM_001407695.1:c.1627A>T NP_001394624.1:p.Ser543Cys missense NM_001407696.1:c.1627A>T NP_001394625.1:p.Ser543Cys missense NM_001407697.1:c.1627A>T NP_001394626.1:p.Ser543Cys missense NM_001407698.1:c.1627A>T NP_001394627.1:p.Ser543Cys missense NM_001407724.1:c.1627A>T NP_001394653.1:p.Ser543Cys missense NM_001407725.1:c.1627A>T NP_001394654.1:p.Ser543Cys missense NM_001407726.1:c.1627A>T NP_001394655.1:p.Ser543Cys missense NM_001407727.1:c.1627A>T NP_001394656.1:p.Ser543Cys missense NM_001407728.1:c.1627A>T NP_001394657.1:p.Ser543Cys missense NM_001407729.1:c.1627A>T NP_001394658.1:p.Ser543Cys missense NM_001407730.1:c.1627A>T NP_001394659.1:p.Ser543Cys missense NM_001407731.1:c.1627A>T NP_001394660.1:p.Ser543Cys missense NM_001407732.1:c.1627A>T NP_001394661.1:p.Ser543Cys missense NM_001407733.1:c.1627A>T NP_001394662.1:p.Ser543Cys missense NM_001407734.1:c.1627A>T NP_001394663.1:p.Ser543Cys missense NM_001407735.1:c.1627A>T NP_001394664.1:p.Ser543Cys missense NM_001407736.1:c.1627A>T NP_001394665.1:p.Ser543Cys missense NM_001407737.1:c.1627A>T NP_001394666.1:p.Ser543Cys missense NM_001407738.1:c.1627A>T NP_001394667.1:p.Ser543Cys missense NM_001407739.1:c.1627A>T NP_001394668.1:p.Ser543Cys missense NM_001407740.1:c.1624A>T NP_001394669.1:p.Ser542Cys missense NM_001407741.1:c.1624A>T NP_001394670.1:p.Ser542Cys missense NM_001407742.1:c.1624A>T NP_001394671.1:p.Ser542Cys missense NM_001407743.1:c.1624A>T NP_001394672.1:p.Ser542Cys missense NM_001407744.1:c.1624A>T NP_001394673.1:p.Ser542Cys missense NM_001407745.1:c.1624A>T NP_001394674.1:p.Ser542Cys missense NM_001407746.1:c.1624A>T NP_001394675.1:p.Ser542Cys missense NM_001407747.1:c.1624A>T NP_001394676.1:p.Ser542Cys missense NM_001407748.1:c.1624A>T NP_001394677.1:p.Ser542Cys missense NM_001407749.1:c.1624A>T NP_001394678.1:p.Ser542Cys missense NM_001407750.1:c.1627A>T NP_001394679.1:p.Ser543Cys missense NM_001407751.1:c.1627A>T NP_001394680.1:p.Ser543Cys missense NM_001407752.1:c.1627A>T NP_001394681.1:p.Ser543Cys missense NM_001407838.1:c.1624A>T NP_001394767.1:p.Ser542Cys missense NM_001407839.1:c.1624A>T NP_001394768.1:p.Ser542Cys missense NM_001407841.1:c.1624A>T NP_001394770.1:p.Ser542Cys missense NM_001407842.1:c.1624A>T NP_001394771.1:p.Ser542Cys missense NM_001407843.1:c.1624A>T NP_001394772.1:p.Ser542Cys missense NM_001407844.1:c.1624A>T NP_001394773.1:p.Ser542Cys missense NM_001407845.1:c.1624A>T NP_001394774.1:p.Ser542Cys missense NM_001407846.1:c.1624A>T NP_001394775.1:p.Ser542Cys missense NM_001407847.1:c.1624A>T NP_001394776.1:p.Ser542Cys missense NM_001407848.1:c.1624A>T NP_001394777.1:p.Ser542Cys missense NM_001407849.1:c.1624A>T NP_001394778.1:p.Ser542Cys missense NM_001407850.1:c.1627A>T NP_001394779.1:p.Ser543Cys missense NM_001407851.1:c.1627A>T NP_001394780.1:p.Ser543Cys missense NM_001407852.1:c.1627A>T NP_001394781.1:p.Ser543Cys missense NM_001407853.1:c.1555A>T NP_001394782.1:p.Ser519Cys missense NM_001407854.1:c.1768A>T NP_001394783.1:p.Ser590Cys missense NM_001407858.1:c.1768A>T NP_001394787.1:p.Ser590Cys missense NM_001407859.1:c.1768A>T NP_001394788.1:p.Ser590Cys missense NM_001407860.1:c.1765A>T NP_001394789.1:p.Ser589Cys missense NM_001407861.1:c.1765A>T NP_001394790.1:p.Ser589Cys missense NM_001407862.1:c.1567A>T NP_001394791.1:p.Ser523Cys missense NM_001407863.1:c.1645A>T NP_001394792.1:p.Ser549Cys missense NM_001407874.1:c.1564A>T NP_001394803.1:p.Ser522Cys missense NM_001407875.1:c.1564A>T NP_001394804.1:p.Ser522Cys missense NM_001407879.1:c.1558A>T NP_001394808.1:p.Ser520Cys missense NM_001407881.1:c.1558A>T NP_001394810.1:p.Ser520Cys missense NM_001407882.1:c.1558A>T NP_001394811.1:p.Ser520Cys missense NM_001407884.1:c.1558A>T NP_001394813.1:p.Ser520Cys missense NM_001407885.1:c.1558A>T NP_001394814.1:p.Ser520Cys missense NM_001407886.1:c.1558A>T NP_001394815.1:p.Ser520Cys missense NM_001407887.1:c.1558A>T NP_001394816.1:p.Ser520Cys missense NM_001407889.1:c.1558A>T NP_001394818.1:p.Ser520Cys missense NM_001407894.1:c.1555A>T NP_001394823.1:p.Ser519Cys missense NM_001407895.1:c.1555A>T NP_001394824.1:p.Ser519Cys missense NM_001407896.1:c.1555A>T NP_001394825.1:p.Ser519Cys missense NM_001407897.1:c.1555A>T NP_001394826.1:p.Ser519Cys missense NM_001407898.1:c.1555A>T NP_001394827.1:p.Ser519Cys missense NM_001407899.1:c.1555A>T NP_001394828.1:p.Ser519Cys missense NM_001407900.1:c.1558A>T NP_001394829.1:p.Ser520Cys missense NM_001407902.1:c.1558A>T NP_001394831.1:p.Ser520Cys missense NM_001407904.1:c.1558A>T NP_001394833.1:p.Ser520Cys missense NM_001407906.1:c.1558A>T NP_001394835.1:p.Ser520Cys missense NM_001407907.1:c.1558A>T NP_001394836.1:p.Ser520Cys missense NM_001407908.1:c.1558A>T NP_001394837.1:p.Ser520Cys missense NM_001407909.1:c.1558A>T NP_001394838.1:p.Ser520Cys missense NM_001407910.1:c.1558A>T NP_001394839.1:p.Ser520Cys missense NM_001407915.1:c.1555A>T NP_001394844.1:p.Ser519Cys missense NM_001407916.1:c.1555A>T NP_001394845.1:p.Ser519Cys missense NM_001407917.1:c.1555A>T NP_001394846.1:p.Ser519Cys missense NM_001407918.1:c.1555A>T NP_001394847.1:p.Ser519Cys missense NM_001407919.1:c.1645A>T NP_001394848.1:p.Ser549Cys missense NM_001407920.1:c.1504A>T NP_001394849.1:p.Ser502Cys missense NM_001407921.1:c.1504A>T NP_001394850.1:p.Ser502Cys missense NM_001407922.1:c.1504A>T NP_001394851.1:p.Ser502Cys missense NM_001407923.1:c.1504A>T NP_001394852.1:p.Ser502Cys missense NM_001407924.1:c.1504A>T NP_001394853.1:p.Ser502Cys missense NM_001407925.1:c.1504A>T NP_001394854.1:p.Ser502Cys missense NM_001407926.1:c.1504A>T NP_001394855.1:p.Ser502Cys missense NM_001407927.1:c.1504A>T NP_001394856.1:p.Ser502Cys missense NM_001407928.1:c.1504A>T NP_001394857.1:p.Ser502Cys missense NM_001407929.1:c.1504A>T NP_001394858.1:p.Ser502Cys missense NM_001407930.1:c.1501A>T NP_001394859.1:p.Ser501Cys missense NM_001407931.1:c.1501A>T NP_001394860.1:p.Ser501Cys missense NM_001407932.1:c.1501A>T NP_001394861.1:p.Ser501Cys missense NM_001407933.1:c.1504A>T NP_001394862.1:p.Ser502Cys missense NM_001407934.1:c.1501A>T NP_001394863.1:p.Ser501Cys missense NM_001407935.1:c.1504A>T NP_001394864.1:p.Ser502Cys missense NM_001407936.1:c.1501A>T NP_001394865.1:p.Ser501Cys missense NM_001407937.1:c.1645A>T NP_001394866.1:p.Ser549Cys missense NM_001407938.1:c.1645A>T NP_001394867.1:p.Ser549Cys missense NM_001407939.1:c.1645A>T NP_001394868.1:p.Ser549Cys missense NM_001407940.1:c.1642A>T NP_001394869.1:p.Ser548Cys missense NM_001407941.1:c.1642A>T NP_001394870.1:p.Ser548Cys missense NM_001407942.1:c.1627A>T NP_001394871.1:p.Ser543Cys missense NM_001407943.1:c.1624A>T NP_001394872.1:p.Ser542Cys missense NM_001407944.1:c.1627A>T NP_001394873.1:p.Ser543Cys missense NM_001407945.1:c.1627A>T NP_001394874.1:p.Ser543Cys missense NM_001407946.1:c.1435A>T NP_001394875.1:p.Ser479Cys missense NM_001407947.1:c.1435A>T NP_001394876.1:p.Ser479Cys missense NM_001407948.1:c.1435A>T NP_001394877.1:p.Ser479Cys missense NM_001407949.1:c.1435A>T NP_001394878.1:p.Ser479Cys missense NM_001407950.1:c.1435A>T NP_001394879.1:p.Ser479Cys missense NM_001407951.1:c.1435A>T NP_001394880.1:p.Ser479Cys missense NM_001407952.1:c.1435A>T NP_001394881.1:p.Ser479Cys missense NM_001407953.1:c.1435A>T NP_001394882.1:p.Ser479Cys missense NM_001407954.1:c.1432A>T NP_001394883.1:p.Ser478Cys missense NM_001407955.1:c.1432A>T NP_001394884.1:p.Ser478Cys missense NM_001407956.1:c.1432A>T NP_001394885.1:p.Ser478Cys missense NM_001407957.1:c.1435A>T NP_001394886.1:p.Ser479Cys missense NM_001407958.1:c.1432A>T NP_001394887.1:p.Ser478Cys missense NM_001407959.1:c.1387A>T NP_001394888.1:p.Ser463Cys missense NM_001407960.1:c.1387A>T NP_001394889.1:p.Ser463Cys missense NM_001407962.1:c.1384A>T NP_001394891.1:p.Ser462Cys missense NM_001407963.1:c.1387A>T NP_001394892.1:p.Ser463Cys missense NM_001407964.1:c.1624A>T NP_001394893.1:p.Ser542Cys missense NM_001407965.1:c.1264A>T NP_001394894.1:p.Ser422Cys missense NM_001407966.1:c.880A>T NP_001394895.1:p.Ser294Cys missense NM_001407967.1:c.880A>T NP_001394896.1:p.Ser294Cys missense NM_001407968.1:c.787+981A>T intron variant NM_001407969.1:c.787+981A>T intron variant NM_001407970.1:c.787+981A>T intron variant NM_001407971.1:c.787+981A>T intron variant NM_001407972.1:c.784+981A>T intron variant NM_001407973.1:c.787+981A>T intron variant NM_001407974.1:c.787+981A>T intron variant NM_001407975.1:c.787+981A>T intron variant NM_001407976.1:c.787+981A>T intron variant NM_001407977.1:c.787+981A>T intron variant NM_001407978.1:c.787+981A>T intron variant NM_001407979.1:c.787+981A>T intron variant NM_001407980.1:c.787+981A>T intron variant NM_001407981.1:c.787+981A>T intron variant NM_001407982.1:c.787+981A>T intron variant NM_001407983.1:c.787+981A>T intron variant NM_001407984.1:c.784+981A>T intron variant NM_001407985.1:c.784+981A>T intron variant NM_001407986.1:c.784+981A>T intron variant NM_001407990.1:c.787+981A>T intron variant NM_001407991.1:c.784+981A>T intron variant NM_001407992.1:c.784+981A>T intron variant NM_001407993.1:c.787+981A>T intron variant NM_001408392.1:c.784+981A>T intron variant NM_001408396.1:c.784+981A>T intron variant NM_001408397.1:c.784+981A>T intron variant NM_001408398.1:c.784+981A>T intron variant NM_001408399.1:c.784+981A>T intron variant NM_001408400.1:c.784+981A>T intron variant NM_001408401.1:c.784+981A>T intron variant NM_001408402.1:c.784+981A>T intron variant NM_001408403.1:c.787+981A>T intron variant NM_001408404.1:c.787+981A>T intron variant NM_001408406.1:c.790+978A>T intron variant NM_001408407.1:c.784+981A>T intron variant NM_001408408.1:c.778+981A>T intron variant NM_001408409.1:c.709+981A>T intron variant NM_001408410.1:c.646+981A>T intron variant NM_001408411.1:c.709+981A>T intron variant NM_001408412.1:c.709+981A>T intron variant NM_001408413.1:c.706+981A>T intron variant NM_001408414.1:c.709+981A>T intron variant NM_001408415.1:c.709+981A>T intron variant NM_001408416.1:c.706+981A>T intron variant NM_001408418.1:c.670+2083A>T intron variant NM_001408419.1:c.670+2083A>T intron variant NM_001408420.1:c.670+2083A>T intron variant NM_001408421.1:c.667+2083A>T intron variant NM_001408422.1:c.670+2083A>T intron variant NM_001408423.1:c.670+2083A>T intron variant NM_001408424.1:c.667+2083A>T intron variant NM_001408425.1:c.664+981A>T intron variant NM_001408426.1:c.664+981A>T intron variant NM_001408427.1:c.664+981A>T intron variant NM_001408428.1:c.664+981A>T intron variant NM_001408429.1:c.664+981A>T intron variant NM_001408430.1:c.664+981A>T intron variant NM_001408431.1:c.667+2083A>T intron variant NM_001408432.1:c.661+981A>T intron variant NM_001408433.1:c.661+981A>T intron variant NM_001408434.1:c.661+981A>T intron variant NM_001408435.1:c.661+981A>T intron variant NM_001408436.1:c.664+981A>T intron variant NM_001408437.1:c.664+981A>T intron variant NM_001408438.1:c.664+981A>T intron variant NM_001408439.1:c.664+981A>T intron variant NM_001408440.1:c.664+981A>T intron variant NM_001408441.1:c.664+981A>T intron variant NM_001408442.1:c.664+981A>T intron variant NM_001408443.1:c.664+981A>T intron variant NM_001408444.1:c.664+981A>T intron variant NM_001408445.1:c.661+981A>T intron variant NM_001408446.1:c.661+981A>T intron variant NM_001408447.1:c.661+981A>T intron variant NM_001408448.1:c.661+981A>T intron variant NM_001408450.1:c.661+981A>T intron variant NM_001408451.1:c.652+981A>T intron variant NM_001408452.1:c.646+981A>T intron variant NM_001408453.1:c.646+981A>T intron variant NM_001408454.1:c.646+981A>T intron variant NM_001408455.1:c.646+981A>T intron variant NM_001408456.1:c.646+981A>T intron variant NM_001408457.1:c.646+981A>T intron variant NM_001408458.1:c.646+981A>T intron variant NM_001408459.1:c.646+981A>T intron variant NM_001408460.1:c.646+981A>T intron variant NM_001408461.1:c.646+981A>T intron variant NM_001408462.1:c.643+981A>T intron variant NM_001408463.1:c.643+981A>T intron variant NM_001408464.1:c.643+981A>T intron variant NM_001408465.1:c.643+981A>T intron variant NM_001408466.1:c.646+981A>T intron variant NM_001408467.1:c.646+981A>T intron variant NM_001408468.1:c.643+981A>T intron variant NM_001408469.1:c.646+981A>T intron variant NM_001408470.1:c.643+981A>T intron variant NM_001408472.1:c.787+981A>T intron variant NM_001408473.1:c.784+981A>T intron variant NM_001408474.1:c.586+981A>T intron variant NM_001408475.1:c.583+981A>T intron variant NM_001408476.1:c.586+981A>T intron variant NM_001408478.1:c.577+981A>T intron variant NM_001408479.1:c.577+981A>T intron variant NM_001408480.1:c.577+981A>T intron variant NM_001408481.1:c.577+981A>T intron variant NM_001408482.1:c.577+981A>T intron variant NM_001408483.1:c.577+981A>T intron variant NM_001408484.1:c.577+981A>T intron variant NM_001408485.1:c.577+981A>T intron variant NM_001408489.1:c.577+981A>T intron variant NM_001408490.1:c.574+981A>T intron variant NM_001408491.1:c.574+981A>T intron variant NM_001408492.1:c.577+981A>T intron variant NM_001408493.1:c.574+981A>T intron variant NM_001408494.1:c.548-2731A>T intron variant NM_001408495.1:c.545-2731A>T intron variant NM_001408496.1:c.523+981A>T intron variant NM_001408497.1:c.523+981A>T intron variant NM_001408498.1:c.523+981A>T intron variant NM_001408499.1:c.523+981A>T intron variant NM_001408500.1:c.523+981A>T intron variant NM_001408501.1:c.523+981A>T intron variant NM_001408502.1:c.454+981A>T intron variant NM_001408503.1:c.520+981A>T intron variant NM_001408504.1:c.520+981A>T intron variant NM_001408505.1:c.520+981A>T intron variant NM_001408506.1:c.460+2083A>T intron variant NM_001408507.1:c.460+2083A>T intron variant NM_001408508.1:c.451+981A>T intron variant NM_001408509.1:c.451+981A>T intron variant NM_001408510.1:c.406+981A>T intron variant NM_001408511.1:c.404-2731A>T intron variant NM_001408512.1:c.283+981A>T intron variant NM_001408513.1:c.577+981A>T intron variant NM_001408514.1:c.577+981A>T intron variant NM_007297.4:c.1627A>T NP_009228.2:p.Ser543Cys missense NM_007298.4:c.787+981A>T intron variant NM_007299.4:c.787+981A>T intron variant NM_007300.4:c.1768A>T NP_009231.2:p.Ser590Cys missense NR_027676.1:n.1904A>T NC_000017.11:g.43093763T>A NC_000017.10:g.41245780T>A NG_005905.2:g.124221A>T LRG_292:g.124221A>T LRG_292t1:c.1768A>T LRG_292p1:p.Ser590Cys - Protein change
- S590C, S543C, S422C, S463C, S519C, S523C, S542C, S462C, S501C, S520C, S548C, S549C, S587C, S589C, S294C, S502C, S564C, S478C, S479C, S522C, S563C
- Other names
- -
- Canonical SPDI
- NC_000017.11:43093762:T: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 (3) |
criteria provided, conflicting classifications
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Mar 23, 2023 | RCV001178429.9 | |
Uncertain significance (1) |
criteria provided, single submitter
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Jun 18, 2018 | RCV001305149.8 |
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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Uncertain significance
(Jun 16, 2019)
|
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: SCV001342882.1
First in ClinVar: Jun 22, 2020 Last updated: Jun 22, 2020 |
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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: SCV003851047.1
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
(Jun 18, 2018)
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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: SCV001494471.4
First in ClinVar: Mar 07, 2021 Last updated: Feb 14, 2024 |
Comment:
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 … (more)
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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BRCA1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with cysteine at codon 590 of the BRCA1 protein (p.Ser590Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and cysteine. (less)
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Uncertain significance
(Jun 04, 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: SCV002716811.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The p.S590C variant (also known as c.1768A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at nucleotide … (more)
The p.S590C variant (also known as c.1768A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at nucleotide position 1768. The serine at codon 590 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is well 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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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 rs80357454 ...
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.