ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.1969C>T (p.Gln657Ter)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.1969C>T (p.Gln657Ter)
Variation ID: 54423 Accession: VCV000054423.14
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43093562 (GRCh38) [ NCBI UCSC ] 17: 41245579 (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 22, 2016 Feb 14, 2024 Oct 18, 2016 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.1969C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Gln657Ter nonsense NM_001407571.1:c.1756C>T NP_001394500.1:p.Gln586Ter nonsense NM_001407581.1:c.1969C>T NP_001394510.1:p.Gln657Ter nonsense NM_001407582.1:c.1969C>T NP_001394511.1:p.Gln657Ter nonsense NM_001407583.1:c.1969C>T NP_001394512.1:p.Gln657Ter nonsense NM_001407585.1:c.1969C>T NP_001394514.1:p.Gln657Ter nonsense NM_001407587.1:c.1966C>T NP_001394516.1:p.Gln656Ter nonsense NM_001407590.1:c.1966C>T NP_001394519.1:p.Gln656Ter nonsense NM_001407591.1:c.1966C>T NP_001394520.1:p.Gln656Ter nonsense NM_001407593.1:c.1969C>T NP_001394522.1:p.Gln657Ter nonsense NM_001407594.1:c.1969C>T NP_001394523.1:p.Gln657Ter nonsense NM_001407596.1:c.1969C>T NP_001394525.1:p.Gln657Ter nonsense NM_001407597.1:c.1969C>T NP_001394526.1:p.Gln657Ter nonsense NM_001407598.1:c.1969C>T NP_001394527.1:p.Gln657Ter nonsense NM_001407602.1:c.1969C>T NP_001394531.1:p.Gln657Ter nonsense NM_001407603.1:c.1969C>T NP_001394532.1:p.Gln657Ter nonsense NM_001407605.1:c.1969C>T NP_001394534.1:p.Gln657Ter nonsense NM_001407610.1:c.1966C>T NP_001394539.1:p.Gln656Ter nonsense NM_001407611.1:c.1966C>T NP_001394540.1:p.Gln656Ter nonsense NM_001407612.1:c.1966C>T NP_001394541.1:p.Gln656Ter nonsense NM_001407613.1:c.1966C>T NP_001394542.1:p.Gln656Ter nonsense NM_001407614.1:c.1966C>T NP_001394543.1:p.Gln656Ter nonsense NM_001407615.1:c.1966C>T NP_001394544.1:p.Gln656Ter nonsense NM_001407616.1:c.1969C>T NP_001394545.1:p.Gln657Ter nonsense NM_001407617.1:c.1969C>T NP_001394546.1:p.Gln657Ter nonsense NM_001407618.1:c.1969C>T NP_001394547.1:p.Gln657Ter nonsense NM_001407619.1:c.1969C>T NP_001394548.1:p.Gln657Ter nonsense NM_001407620.1:c.1969C>T NP_001394549.1:p.Gln657Ter nonsense NM_001407621.1:c.1969C>T NP_001394550.1:p.Gln657Ter nonsense NM_001407622.1:c.1969C>T NP_001394551.1:p.Gln657Ter nonsense NM_001407623.1:c.1969C>T NP_001394552.1:p.Gln657Ter nonsense NM_001407624.1:c.1969C>T NP_001394553.1:p.Gln657Ter nonsense NM_001407625.1:c.1969C>T NP_001394554.1:p.Gln657Ter nonsense NM_001407626.1:c.1969C>T NP_001394555.1:p.Gln657Ter nonsense NM_001407627.1:c.1966C>T NP_001394556.1:p.Gln656Ter nonsense NM_001407628.1:c.1966C>T NP_001394557.1:p.Gln656Ter nonsense NM_001407629.1:c.1966C>T NP_001394558.1:p.Gln656Ter nonsense NM_001407630.1:c.1966C>T NP_001394559.1:p.Gln656Ter nonsense NM_001407631.1:c.1966C>T NP_001394560.1:p.Gln656Ter nonsense NM_001407632.1:c.1966C>T NP_001394561.1:p.Gln656Ter nonsense NM_001407633.1:c.1966C>T NP_001394562.1:p.Gln656Ter nonsense NM_001407634.1:c.1966C>T NP_001394563.1:p.Gln656Ter nonsense NM_001407635.1:c.1966C>T NP_001394564.1:p.Gln656Ter nonsense NM_001407636.1:c.1966C>T NP_001394565.1:p.Gln656Ter nonsense NM_001407637.1:c.1966C>T NP_001394566.1:p.Gln656Ter nonsense NM_001407638.1:c.1966C>T NP_001394567.1:p.Gln656Ter nonsense NM_001407639.1:c.1969C>T NP_001394568.1:p.Gln657Ter nonsense NM_001407640.1:c.1969C>T NP_001394569.1:p.Gln657Ter nonsense NM_001407641.1:c.1969C>T NP_001394570.1:p.Gln657Ter nonsense NM_001407642.1:c.1969C>T NP_001394571.1:p.Gln657Ter nonsense NM_001407644.1:c.1966C>T NP_001394573.1:p.Gln656Ter nonsense NM_001407645.1:c.1966C>T NP_001394574.1:p.Gln656Ter nonsense NM_001407646.1:c.1960C>T NP_001394575.1:p.Gln654Ter nonsense NM_001407647.1:c.1960C>T NP_001394576.1:p.Gln654Ter nonsense NM_001407648.1:c.1846C>T NP_001394577.1:p.Gln616Ter nonsense NM_001407649.1:c.1843C>T NP_001394578.1:p.Gln615Ter nonsense NM_001407652.1:c.1969C>T NP_001394581.1:p.Gln657Ter nonsense NM_001407653.1:c.1891C>T NP_001394582.1:p.Gln631Ter nonsense NM_001407654.1:c.1891C>T NP_001394583.1:p.Gln631Ter nonsense NM_001407655.1:c.1891C>T NP_001394584.1:p.Gln631Ter nonsense NM_001407656.1:c.1891C>T NP_001394585.1:p.Gln631Ter nonsense NM_001407657.1:c.1891C>T NP_001394586.1:p.Gln631Ter nonsense NM_001407658.1:c.1891C>T NP_001394587.1:p.Gln631Ter nonsense NM_001407659.1:c.1888C>T NP_001394588.1:p.Gln630Ter nonsense NM_001407660.1:c.1888C>T NP_001394589.1:p.Gln630Ter nonsense NM_001407661.1:c.1888C>T NP_001394590.1:p.Gln630Ter nonsense NM_001407662.1:c.1888C>T NP_001394591.1:p.Gln630Ter nonsense NM_001407663.1:c.1891C>T NP_001394592.1:p.Gln631Ter nonsense NM_001407664.1:c.1846C>T NP_001394593.1:p.Gln616Ter nonsense NM_001407665.1:c.1846C>T NP_001394594.1:p.Gln616Ter nonsense NM_001407666.1:c.1846C>T NP_001394595.1:p.Gln616Ter nonsense NM_001407667.1:c.1846C>T NP_001394596.1:p.Gln616Ter nonsense NM_001407668.1:c.1846C>T NP_001394597.1:p.Gln616Ter nonsense NM_001407669.1:c.1846C>T NP_001394598.1:p.Gln616Ter nonsense NM_001407670.1:c.1843C>T NP_001394599.1:p.Gln615Ter nonsense NM_001407671.1:c.1843C>T NP_001394600.1:p.Gln615Ter nonsense NM_001407672.1:c.1843C>T NP_001394601.1:p.Gln615Ter nonsense NM_001407673.1:c.1843C>T NP_001394602.1:p.Gln615Ter nonsense NM_001407674.1:c.1846C>T NP_001394603.1:p.Gln616Ter nonsense NM_001407675.1:c.1846C>T NP_001394604.1:p.Gln616Ter nonsense NM_001407676.1:c.1846C>T NP_001394605.1:p.Gln616Ter nonsense NM_001407677.1:c.1846C>T NP_001394606.1:p.Gln616Ter nonsense NM_001407678.1:c.1846C>T NP_001394607.1:p.Gln616Ter nonsense NM_001407679.1:c.1846C>T NP_001394608.1:p.Gln616Ter nonsense NM_001407680.1:c.1846C>T NP_001394609.1:p.Gln616Ter nonsense NM_001407681.1:c.1846C>T NP_001394610.1:p.Gln616Ter nonsense NM_001407682.1:c.1846C>T NP_001394611.1:p.Gln616Ter nonsense NM_001407683.1:c.1846C>T NP_001394612.1:p.Gln616Ter nonsense NM_001407684.1:c.1969C>T NP_001394613.1:p.Gln657Ter nonsense NM_001407685.1:c.1843C>T NP_001394614.1:p.Gln615Ter nonsense NM_001407686.1:c.1843C>T NP_001394615.1:p.Gln615Ter nonsense NM_001407687.1:c.1843C>T NP_001394616.1:p.Gln615Ter nonsense NM_001407688.1:c.1843C>T NP_001394617.1:p.Gln615Ter nonsense NM_001407689.1:c.1843C>T NP_001394618.1:p.Gln615Ter nonsense NM_001407690.1:c.1843C>T NP_001394619.1:p.Gln615Ter nonsense NM_001407691.1:c.1843C>T NP_001394620.1:p.Gln615Ter nonsense NM_001407692.1:c.1828C>T NP_001394621.1:p.Gln610Ter nonsense NM_001407694.1:c.1828C>T NP_001394623.1:p.Gln610Ter nonsense NM_001407695.1:c.1828C>T NP_001394624.1:p.Gln610Ter nonsense NM_001407696.1:c.1828C>T NP_001394625.1:p.Gln610Ter nonsense NM_001407697.1:c.1828C>T NP_001394626.1:p.Gln610Ter nonsense NM_001407698.1:c.1828C>T NP_001394627.1:p.Gln610Ter nonsense NM_001407724.1:c.1828C>T NP_001394653.1:p.Gln610Ter nonsense NM_001407725.1:c.1828C>T NP_001394654.1:p.Gln610Ter nonsense NM_001407726.1:c.1828C>T NP_001394655.1:p.Gln610Ter nonsense NM_001407727.1:c.1828C>T NP_001394656.1:p.Gln610Ter nonsense NM_001407728.1:c.1828C>T NP_001394657.1:p.Gln610Ter nonsense NM_001407729.1:c.1828C>T NP_001394658.1:p.Gln610Ter nonsense NM_001407730.1:c.1828C>T NP_001394659.1:p.Gln610Ter nonsense NM_001407731.1:c.1828C>T NP_001394660.1:p.Gln610Ter nonsense NM_001407732.1:c.1828C>T NP_001394661.1:p.Gln610Ter nonsense NM_001407733.1:c.1828C>T NP_001394662.1:p.Gln610Ter nonsense NM_001407734.1:c.1828C>T NP_001394663.1:p.Gln610Ter nonsense NM_001407735.1:c.1828C>T NP_001394664.1:p.Gln610Ter nonsense NM_001407736.1:c.1828C>T NP_001394665.1:p.Gln610Ter nonsense NM_001407737.1:c.1828C>T NP_001394666.1:p.Gln610Ter nonsense NM_001407738.1:c.1828C>T NP_001394667.1:p.Gln610Ter nonsense NM_001407739.1:c.1828C>T NP_001394668.1:p.Gln610Ter nonsense NM_001407740.1:c.1825C>T NP_001394669.1:p.Gln609Ter nonsense NM_001407741.1:c.1825C>T NP_001394670.1:p.Gln609Ter nonsense NM_001407742.1:c.1825C>T NP_001394671.1:p.Gln609Ter nonsense NM_001407743.1:c.1825C>T NP_001394672.1:p.Gln609Ter nonsense NM_001407744.1:c.1825C>T NP_001394673.1:p.Gln609Ter nonsense NM_001407745.1:c.1825C>T NP_001394674.1:p.Gln609Ter nonsense NM_001407746.1:c.1825C>T NP_001394675.1:p.Gln609Ter nonsense NM_001407747.1:c.1825C>T NP_001394676.1:p.Gln609Ter nonsense NM_001407748.1:c.1825C>T NP_001394677.1:p.Gln609Ter nonsense NM_001407749.1:c.1825C>T NP_001394678.1:p.Gln609Ter nonsense NM_001407750.1:c.1828C>T NP_001394679.1:p.Gln610Ter nonsense NM_001407751.1:c.1828C>T NP_001394680.1:p.Gln610Ter nonsense NM_001407752.1:c.1828C>T NP_001394681.1:p.Gln610Ter nonsense NM_001407838.1:c.1825C>T NP_001394767.1:p.Gln609Ter nonsense NM_001407839.1:c.1825C>T NP_001394768.1:p.Gln609Ter nonsense NM_001407841.1:c.1825C>T NP_001394770.1:p.Gln609Ter nonsense NM_001407842.1:c.1825C>T NP_001394771.1:p.Gln609Ter nonsense NM_001407843.1:c.1825C>T NP_001394772.1:p.Gln609Ter nonsense NM_001407844.1:c.1825C>T NP_001394773.1:p.Gln609Ter nonsense NM_001407845.1:c.1825C>T NP_001394774.1:p.Gln609Ter nonsense NM_001407846.1:c.1825C>T NP_001394775.1:p.Gln609Ter nonsense NM_001407847.1:c.1825C>T NP_001394776.1:p.Gln609Ter nonsense NM_001407848.1:c.1825C>T NP_001394777.1:p.Gln609Ter nonsense NM_001407849.1:c.1825C>T NP_001394778.1:p.Gln609Ter nonsense NM_001407850.1:c.1828C>T NP_001394779.1:p.Gln610Ter nonsense NM_001407851.1:c.1828C>T NP_001394780.1:p.Gln610Ter nonsense NM_001407852.1:c.1828C>T NP_001394781.1:p.Gln610Ter nonsense NM_001407853.1:c.1756C>T NP_001394782.1:p.Gln586Ter nonsense NM_001407854.1:c.1969C>T NP_001394783.1:p.Gln657Ter nonsense NM_001407858.1:c.1969C>T NP_001394787.1:p.Gln657Ter nonsense NM_001407859.1:c.1969C>T NP_001394788.1:p.Gln657Ter nonsense NM_001407860.1:c.1966C>T NP_001394789.1:p.Gln656Ter nonsense NM_001407861.1:c.1966C>T NP_001394790.1:p.Gln656Ter nonsense NM_001407862.1:c.1768C>T NP_001394791.1:p.Gln590Ter nonsense NM_001407863.1:c.1846C>T NP_001394792.1:p.Gln616Ter nonsense NM_001407874.1:c.1765C>T NP_001394803.1:p.Gln589Ter nonsense NM_001407875.1:c.1765C>T NP_001394804.1:p.Gln589Ter nonsense NM_001407879.1:c.1759C>T NP_001394808.1:p.Gln587Ter nonsense NM_001407881.1:c.1759C>T NP_001394810.1:p.Gln587Ter nonsense NM_001407882.1:c.1759C>T NP_001394811.1:p.Gln587Ter nonsense NM_001407884.1:c.1759C>T NP_001394813.1:p.Gln587Ter nonsense NM_001407885.1:c.1759C>T NP_001394814.1:p.Gln587Ter nonsense NM_001407886.1:c.1759C>T NP_001394815.1:p.Gln587Ter nonsense NM_001407887.1:c.1759C>T NP_001394816.1:p.Gln587Ter nonsense NM_001407889.1:c.1759C>T NP_001394818.1:p.Gln587Ter nonsense NM_001407894.1:c.1756C>T NP_001394823.1:p.Gln586Ter nonsense NM_001407895.1:c.1756C>T NP_001394824.1:p.Gln586Ter nonsense NM_001407896.1:c.1756C>T NP_001394825.1:p.Gln586Ter nonsense NM_001407897.1:c.1756C>T NP_001394826.1:p.Gln586Ter nonsense NM_001407898.1:c.1756C>T NP_001394827.1:p.Gln586Ter nonsense NM_001407899.1:c.1756C>T NP_001394828.1:p.Gln586Ter nonsense NM_001407900.1:c.1759C>T NP_001394829.1:p.Gln587Ter nonsense NM_001407902.1:c.1759C>T NP_001394831.1:p.Gln587Ter nonsense NM_001407904.1:c.1759C>T NP_001394833.1:p.Gln587Ter nonsense NM_001407906.1:c.1759C>T NP_001394835.1:p.Gln587Ter nonsense NM_001407907.1:c.1759C>T NP_001394836.1:p.Gln587Ter nonsense NM_001407908.1:c.1759C>T NP_001394837.1:p.Gln587Ter nonsense NM_001407909.1:c.1759C>T NP_001394838.1:p.Gln587Ter nonsense NM_001407910.1:c.1759C>T NP_001394839.1:p.Gln587Ter nonsense NM_001407915.1:c.1756C>T NP_001394844.1:p.Gln586Ter nonsense NM_001407916.1:c.1756C>T NP_001394845.1:p.Gln586Ter nonsense NM_001407917.1:c.1756C>T NP_001394846.1:p.Gln586Ter nonsense NM_001407918.1:c.1756C>T NP_001394847.1:p.Gln586Ter nonsense NM_001407919.1:c.1846C>T NP_001394848.1:p.Gln616Ter nonsense NM_001407920.1:c.1705C>T NP_001394849.1:p.Gln569Ter nonsense NM_001407921.1:c.1705C>T NP_001394850.1:p.Gln569Ter nonsense NM_001407922.1:c.1705C>T NP_001394851.1:p.Gln569Ter nonsense NM_001407923.1:c.1705C>T NP_001394852.1:p.Gln569Ter nonsense NM_001407924.1:c.1705C>T NP_001394853.1:p.Gln569Ter nonsense NM_001407925.1:c.1705C>T NP_001394854.1:p.Gln569Ter nonsense NM_001407926.1:c.1705C>T NP_001394855.1:p.Gln569Ter nonsense NM_001407927.1:c.1705C>T NP_001394856.1:p.Gln569Ter nonsense NM_001407928.1:c.1705C>T NP_001394857.1:p.Gln569Ter nonsense NM_001407929.1:c.1705C>T NP_001394858.1:p.Gln569Ter nonsense NM_001407930.1:c.1702C>T NP_001394859.1:p.Gln568Ter nonsense NM_001407931.1:c.1702C>T NP_001394860.1:p.Gln568Ter nonsense NM_001407932.1:c.1702C>T NP_001394861.1:p.Gln568Ter nonsense NM_001407933.1:c.1705C>T NP_001394862.1:p.Gln569Ter nonsense NM_001407934.1:c.1702C>T NP_001394863.1:p.Gln568Ter nonsense NM_001407935.1:c.1705C>T NP_001394864.1:p.Gln569Ter nonsense NM_001407936.1:c.1702C>T NP_001394865.1:p.Gln568Ter nonsense NM_001407937.1:c.1846C>T NP_001394866.1:p.Gln616Ter nonsense NM_001407938.1:c.1846C>T NP_001394867.1:p.Gln616Ter nonsense NM_001407939.1:c.1846C>T NP_001394868.1:p.Gln616Ter nonsense NM_001407940.1:c.1843C>T NP_001394869.1:p.Gln615Ter nonsense NM_001407941.1:c.1843C>T NP_001394870.1:p.Gln615Ter nonsense NM_001407942.1:c.1828C>T NP_001394871.1:p.Gln610Ter nonsense NM_001407943.1:c.1825C>T NP_001394872.1:p.Gln609Ter nonsense NM_001407944.1:c.1828C>T NP_001394873.1:p.Gln610Ter nonsense NM_001407945.1:c.1828C>T NP_001394874.1:p.Gln610Ter nonsense NM_001407946.1:c.1636C>T NP_001394875.1:p.Gln546Ter nonsense NM_001407947.1:c.1636C>T NP_001394876.1:p.Gln546Ter nonsense NM_001407948.1:c.1636C>T NP_001394877.1:p.Gln546Ter nonsense NM_001407949.1:c.1636C>T NP_001394878.1:p.Gln546Ter nonsense NM_001407950.1:c.1636C>T NP_001394879.1:p.Gln546Ter nonsense NM_001407951.1:c.1636C>T NP_001394880.1:p.Gln546Ter nonsense NM_001407952.1:c.1636C>T NP_001394881.1:p.Gln546Ter nonsense NM_001407953.1:c.1636C>T NP_001394882.1:p.Gln546Ter nonsense NM_001407954.1:c.1633C>T NP_001394883.1:p.Gln545Ter nonsense NM_001407955.1:c.1633C>T NP_001394884.1:p.Gln545Ter nonsense NM_001407956.1:c.1633C>T NP_001394885.1:p.Gln545Ter nonsense NM_001407957.1:c.1636C>T NP_001394886.1:p.Gln546Ter nonsense NM_001407958.1:c.1633C>T NP_001394887.1:p.Gln545Ter nonsense NM_001407959.1:c.1588C>T NP_001394888.1:p.Gln530Ter nonsense NM_001407960.1:c.1588C>T NP_001394889.1:p.Gln530Ter nonsense NM_001407962.1:c.1585C>T NP_001394891.1:p.Gln529Ter nonsense NM_001407963.1:c.1588C>T NP_001394892.1:p.Gln530Ter nonsense NM_001407964.1:c.1825C>T NP_001394893.1:p.Gln609Ter nonsense NM_001407965.1:c.1465C>T NP_001394894.1:p.Gln489Ter nonsense NM_001407966.1:c.1081C>T NP_001394895.1:p.Gln361Ter nonsense NM_001407967.1:c.1081C>T NP_001394896.1:p.Gln361Ter nonsense NM_001407968.1:c.787+1182C>T intron variant NM_001407969.1:c.787+1182C>T intron variant NM_001407970.1:c.787+1182C>T intron variant NM_001407971.1:c.787+1182C>T intron variant NM_001407972.1:c.784+1182C>T intron variant NM_001407973.1:c.787+1182C>T intron variant NM_001407974.1:c.787+1182C>T intron variant NM_001407975.1:c.787+1182C>T intron variant NM_001407976.1:c.787+1182C>T intron variant NM_001407977.1:c.787+1182C>T intron variant NM_001407978.1:c.787+1182C>T intron variant NM_001407979.1:c.787+1182C>T intron variant NM_001407980.1:c.787+1182C>T intron variant NM_001407981.1:c.787+1182C>T intron variant NM_001407982.1:c.787+1182C>T intron variant NM_001407983.1:c.787+1182C>T intron variant NM_001407984.1:c.784+1182C>T intron variant NM_001407985.1:c.784+1182C>T intron variant NM_001407986.1:c.784+1182C>T intron variant NM_001407990.1:c.787+1182C>T intron variant NM_001407991.1:c.784+1182C>T intron variant NM_001407992.1:c.784+1182C>T intron variant NM_001407993.1:c.787+1182C>T intron variant NM_001408392.1:c.784+1182C>T intron variant NM_001408396.1:c.784+1182C>T intron variant NM_001408397.1:c.784+1182C>T intron variant NM_001408398.1:c.784+1182C>T intron variant NM_001408399.1:c.784+1182C>T intron variant NM_001408400.1:c.784+1182C>T intron variant NM_001408401.1:c.784+1182C>T intron variant NM_001408402.1:c.784+1182C>T intron variant NM_001408403.1:c.787+1182C>T intron variant NM_001408404.1:c.787+1182C>T intron variant NM_001408406.1:c.790+1179C>T intron variant NM_001408407.1:c.784+1182C>T intron variant NM_001408408.1:c.778+1182C>T intron variant NM_001408409.1:c.709+1182C>T intron variant NM_001408410.1:c.646+1182C>T intron variant NM_001408411.1:c.709+1182C>T intron variant NM_001408412.1:c.709+1182C>T intron variant NM_001408413.1:c.706+1182C>T intron variant NM_001408414.1:c.709+1182C>T intron variant NM_001408415.1:c.709+1182C>T intron variant NM_001408416.1:c.706+1182C>T intron variant NM_001408418.1:c.670+2284C>T intron variant NM_001408419.1:c.670+2284C>T intron variant NM_001408420.1:c.670+2284C>T intron variant NM_001408421.1:c.667+2284C>T intron variant NM_001408422.1:c.670+2284C>T intron variant NM_001408423.1:c.670+2284C>T intron variant NM_001408424.1:c.667+2284C>T intron variant NM_001408425.1:c.664+1182C>T intron variant NM_001408426.1:c.664+1182C>T intron variant NM_001408427.1:c.664+1182C>T intron variant NM_001408428.1:c.664+1182C>T intron variant NM_001408429.1:c.664+1182C>T intron variant NM_001408430.1:c.664+1182C>T intron variant NM_001408431.1:c.667+2284C>T intron variant NM_001408432.1:c.661+1182C>T intron variant NM_001408433.1:c.661+1182C>T intron variant NM_001408434.1:c.661+1182C>T intron variant NM_001408435.1:c.661+1182C>T intron variant NM_001408436.1:c.664+1182C>T intron variant NM_001408437.1:c.664+1182C>T intron variant NM_001408438.1:c.664+1182C>T intron variant NM_001408439.1:c.664+1182C>T intron variant NM_001408440.1:c.664+1182C>T intron variant NM_001408441.1:c.664+1182C>T intron variant NM_001408442.1:c.664+1182C>T intron variant NM_001408443.1:c.664+1182C>T intron variant NM_001408444.1:c.664+1182C>T intron variant NM_001408445.1:c.661+1182C>T intron variant NM_001408446.1:c.661+1182C>T intron variant NM_001408447.1:c.661+1182C>T intron variant NM_001408448.1:c.661+1182C>T intron variant NM_001408450.1:c.661+1182C>T intron variant NM_001408451.1:c.652+1182C>T intron variant NM_001408452.1:c.646+1182C>T intron variant NM_001408453.1:c.646+1182C>T intron variant NM_001408454.1:c.646+1182C>T intron variant NM_001408455.1:c.646+1182C>T intron variant NM_001408456.1:c.646+1182C>T intron variant NM_001408457.1:c.646+1182C>T intron variant NM_001408458.1:c.646+1182C>T intron variant NM_001408459.1:c.646+1182C>T intron variant NM_001408460.1:c.646+1182C>T intron variant NM_001408461.1:c.646+1182C>T intron variant NM_001408462.1:c.643+1182C>T intron variant NM_001408463.1:c.643+1182C>T intron variant NM_001408464.1:c.643+1182C>T intron variant NM_001408465.1:c.643+1182C>T intron variant NM_001408466.1:c.646+1182C>T intron variant NM_001408467.1:c.646+1182C>T intron variant NM_001408468.1:c.643+1182C>T intron variant NM_001408469.1:c.646+1182C>T intron variant NM_001408470.1:c.643+1182C>T intron variant NM_001408472.1:c.787+1182C>T intron variant NM_001408473.1:c.784+1182C>T intron variant NM_001408474.1:c.586+1182C>T intron variant NM_001408475.1:c.583+1182C>T intron variant NM_001408476.1:c.586+1182C>T intron variant NM_001408478.1:c.577+1182C>T intron variant NM_001408479.1:c.577+1182C>T intron variant NM_001408480.1:c.577+1182C>T intron variant NM_001408481.1:c.577+1182C>T intron variant NM_001408482.1:c.577+1182C>T intron variant NM_001408483.1:c.577+1182C>T intron variant NM_001408484.1:c.577+1182C>T intron variant NM_001408485.1:c.577+1182C>T intron variant NM_001408489.1:c.577+1182C>T intron variant NM_001408490.1:c.574+1182C>T intron variant NM_001408491.1:c.574+1182C>T intron variant NM_001408492.1:c.577+1182C>T intron variant NM_001408493.1:c.574+1182C>T intron variant NM_001408494.1:c.548-2530C>T intron variant NM_001408495.1:c.545-2530C>T intron variant NM_001408496.1:c.523+1182C>T intron variant NM_001408497.1:c.523+1182C>T intron variant NM_001408498.1:c.523+1182C>T intron variant NM_001408499.1:c.523+1182C>T intron variant NM_001408500.1:c.523+1182C>T intron variant NM_001408501.1:c.523+1182C>T intron variant NM_001408502.1:c.454+1182C>T intron variant NM_001408503.1:c.520+1182C>T intron variant NM_001408504.1:c.520+1182C>T intron variant NM_001408505.1:c.520+1182C>T intron variant NM_001408506.1:c.460+2284C>T intron variant NM_001408507.1:c.460+2284C>T intron variant NM_001408508.1:c.451+1182C>T intron variant NM_001408509.1:c.451+1182C>T intron variant NM_001408510.1:c.406+1182C>T intron variant NM_001408511.1:c.404-2530C>T intron variant NM_001408512.1:c.283+1182C>T intron variant NM_001408513.1:c.577+1182C>T intron variant NM_001408514.1:c.577+1182C>T intron variant NM_007297.4:c.1828C>T NP_009228.2:p.Gln610Ter nonsense NM_007298.4:c.787+1182C>T intron variant NM_007299.4:c.787+1182C>T intron variant NM_007300.4:c.1969C>T NP_009231.2:p.Gln657Ter nonsense NR_027676.1:n.2105C>T NC_000017.11:g.43093562G>A NC_000017.10:g.41245579G>A NG_005905.2:g.124422C>T LRG_292:g.124422C>T LRG_292t1:c.1969C>T LRG_292p1:p.Gln657Ter - Protein change
- Q657*, Q610*, Q361*, Q545*, Q569*, Q586*, Q589*, Q615*, Q529*, Q546*, Q609*, Q630*, Q568*, Q587*, Q616*, Q631*, Q654*, Q656*, Q489*, Q530*, Q590*
- Other names
- 2088C>T (Q657X)
- Canonical SPDI
- NC_000017.11:43093561:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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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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Pathogenic (4) |
reviewed by expert panel
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Oct 18, 2016 | RCV000256717.15 | |
Pathogenic (1) |
criteria provided, single submitter
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Oct 24, 2014 | RCV000657568.9 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Nov 7, 2023 | RCV000779889.15 | |
Pathogenic (1) |
no assertion criteria provided
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Sep 12, 2021 | RCV001650885.9 |
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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Pathogenic
(Oct 18, 2016)
|
reviewed by expert panel
Method: curation
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000323383.2
First in ClinVar: Oct 22, 2016 Last updated: Feb 07, 2023 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
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Pathogenic
(Oct 24, 2014)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000779305.2
First in ClinVar: Jul 09, 2018 Last updated: Jul 09, 2018 |
Comment:
This mutation is noted BRCA1 c.1969C>T at the cDNA level and p.Gln657Ter (Q657X) at the protein level. The substitution creates a nonsense variant, which changes … (more)
This mutation is noted BRCA1 c.1969C>T at the cDNA level and p.Gln657Ter (Q657X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in association with hereditary breast cancer and is considered pathogenic (Peixoto 2006). (less)
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Pathogenic
(Apr 25, 2021)
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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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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000916777.2
First in ClinVar: Jun 02, 2019 Last updated: May 21, 2021 |
Comment:
Variant summary: BRCA1 c.1969C>T (p.Gln657X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Variant summary: BRCA1 c.1969C>T (p.Gln657X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251128 control chromosomes. c.1969C>T has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (example, Judkins_2005, Deng_2019, Peixoto_2014, Rebbeck_2018). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One expert panel (ENIGMA) and one consortium (CIMBA) have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Oct 02, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
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Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325205.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Aug 01, 2023)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
unknown
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Unidad Asesoramiento Genetico Oncologico Falp, Instituto Oncologico Fundacion Arturo Lopez Perez
Accession: SCV004024155.1
First in ClinVar: Aug 13, 2023 Last updated: Aug 13, 2023 |
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Pathogenic
(Nov 07, 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: SCV001579950.4
First in ClinVar: May 10, 2021 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Gln657*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein … (more)
This sequence change creates a premature translational stop signal (p.Gln657*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 16826315, 30720863). ClinVar contains an entry for this variant (Variation ID: 54423). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Sep 12, 2021)
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no assertion criteria provided
Method: clinical testing
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Ovarian carcinoma
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences
Accession: SCV001870399.1
First in ClinVar: Sep 19, 2021 Last updated: Sep 19, 2021 |
Sex: female
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Pathogenic
(Mar 02, 2020)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
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BRCAlab, Lund University
Accession: SCV004244107.1
First in ClinVar: Feb 14, 2024 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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Prevalence and clinical outcomes of germline mutations in BRCA1/2 and PALB2 genes in 2769 unselected breast cancer patients in China. | Deng M | International journal of cancer | 2019 | PMID: 30720863 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry. | Peixoto A | Clinical genetics | 2015 | PMID: 24916970 |
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families. | Peixoto A | Familial cancer | 2006 | PMID: 16826315 |
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. | Judkins T | Cancer research | 2005 | PMID: 16267036 |
Text-mined citations for rs397508926 ...
HelpRecord last updated Oct 13, 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.