ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.1962dup (p.Tyr655fs)
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.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.1962dup (p.Tyr655fs)
Variation ID: 584953 Accession: VCV000584953.12
- Type and length
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Duplication, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43093568-43093569 (GRCh38) [ NCBI UCSC ] 17: 41245585-41245586 (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 Feb 14, 2024 May 28, 2019 - HGVS
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Nucleotide Protein Molecular
consequenceNM_007294.4:c.1962dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Tyr655fs frameshift NM_001407571.1:c.1749dup NP_001394500.1:p.Tyr584fs frameshift NM_001407581.1:c.1962dup NP_001394510.1:p.Tyr655fs frameshift NM_001407582.1:c.1962dup NP_001394511.1:p.Tyr655fs frameshift NM_001407583.1:c.1962dup NP_001394512.1:p.Tyr655fs frameshift NM_001407585.1:c.1962dup NP_001394514.1:p.Tyr655fs frameshift NM_001407587.1:c.1959dup NP_001394516.1:p.Tyr654fs frameshift NM_001407590.1:c.1959dup NP_001394519.1:p.Tyr654fs frameshift NM_001407591.1:c.1959dup NP_001394520.1:p.Tyr654fs frameshift NM_001407593.1:c.1962dup NP_001394522.1:p.Tyr655fs frameshift NM_001407594.1:c.1962dup NP_001394523.1:p.Tyr655fs frameshift NM_001407596.1:c.1962dup NP_001394525.1:p.Tyr655fs frameshift NM_001407597.1:c.1962dup NP_001394526.1:p.Tyr655fs frameshift NM_001407598.1:c.1962dup NP_001394527.1:p.Tyr655fs frameshift NM_001407602.1:c.1962dup NP_001394531.1:p.Tyr655fs frameshift NM_001407603.1:c.1962dup NP_001394532.1:p.Tyr655fs frameshift NM_001407605.1:c.1962dup NP_001394534.1:p.Tyr655fs frameshift NM_001407610.1:c.1959dup NP_001394539.1:p.Tyr654fs frameshift NM_001407611.1:c.1959dup NP_001394540.1:p.Tyr654fs frameshift NM_001407612.1:c.1959dup NP_001394541.1:p.Tyr654fs frameshift NM_001407613.1:c.1959dup NP_001394542.1:p.Tyr654fs frameshift NM_001407614.1:c.1959dup NP_001394543.1:p.Tyr654fs frameshift NM_001407615.1:c.1959dup NP_001394544.1:p.Tyr654fs frameshift NM_001407616.1:c.1962dup NP_001394545.1:p.Tyr655fs frameshift NM_001407617.1:c.1962dup NP_001394546.1:p.Tyr655fs frameshift NM_001407618.1:c.1962dup NP_001394547.1:p.Tyr655fs frameshift NM_001407619.1:c.1962dup NP_001394548.1:p.Tyr655fs frameshift NM_001407620.1:c.1962dup NP_001394549.1:p.Tyr655fs frameshift NM_001407621.1:c.1962dup NP_001394550.1:p.Tyr655fs frameshift NM_001407622.1:c.1962dup NP_001394551.1:p.Tyr655fs frameshift NM_001407623.1:c.1962dup NP_001394552.1:p.Tyr655fs frameshift NM_001407624.1:c.1962dup NP_001394553.1:p.Tyr655fs frameshift NM_001407625.1:c.1962dup NP_001394554.1:p.Tyr655fs frameshift NM_001407626.1:c.1962dup NP_001394555.1:p.Tyr655fs frameshift NM_001407627.1:c.1959dup NP_001394556.1:p.Tyr654fs frameshift NM_001407628.1:c.1959dup NP_001394557.1:p.Tyr654fs frameshift NM_001407629.1:c.1959dup NP_001394558.1:p.Tyr654fs frameshift NM_001407630.1:c.1959dup NP_001394559.1:p.Tyr654fs frameshift NM_001407631.1:c.1959dup NP_001394560.1:p.Tyr654fs frameshift NM_001407632.1:c.1959dup NP_001394561.1:p.Tyr654fs frameshift NM_001407633.1:c.1959dup NP_001394562.1:p.Tyr654fs frameshift NM_001407634.1:c.1959dup NP_001394563.1:p.Tyr654fs frameshift NM_001407635.1:c.1959dup NP_001394564.1:p.Tyr654fs frameshift NM_001407636.1:c.1959dup NP_001394565.1:p.Tyr654fs frameshift NM_001407637.1:c.1959dup NP_001394566.1:p.Tyr654fs frameshift NM_001407638.1:c.1959dup NP_001394567.1:p.Tyr654fs frameshift NM_001407639.1:c.1962dup NP_001394568.1:p.Tyr655fs frameshift NM_001407640.1:c.1962dup NP_001394569.1:p.Tyr655fs frameshift NM_001407641.1:c.1962dup NP_001394570.1:p.Tyr655fs frameshift NM_001407642.1:c.1962dup NP_001394571.1:p.Tyr655fs frameshift NM_001407644.1:c.1959dup NP_001394573.1:p.Tyr654fs frameshift NM_001407645.1:c.1959dup NP_001394574.1:p.Tyr654fs frameshift NM_001407646.1:c.1953dup NP_001394575.1:p.Tyr652fs frameshift NM_001407647.1:c.1953dup NP_001394576.1:p.Tyr652fs frameshift NM_001407648.1:c.1839dup NP_001394577.1:p.Tyr614fs frameshift NM_001407649.1:c.1836dup NP_001394578.1:p.Tyr613fs frameshift NM_001407652.1:c.1962dup NP_001394581.1:p.Tyr655fs frameshift NM_001407653.1:c.1884dup NP_001394582.1:p.Tyr629fs frameshift NM_001407654.1:c.1884dup NP_001394583.1:p.Tyr629fs frameshift NM_001407655.1:c.1884dup NP_001394584.1:p.Tyr629fs frameshift NM_001407656.1:c.1884dup NP_001394585.1:p.Tyr629fs frameshift NM_001407657.1:c.1884dup NP_001394586.1:p.Tyr629fs frameshift NM_001407658.1:c.1884dup NP_001394587.1:p.Tyr629fs frameshift NM_001407659.1:c.1881dup NP_001394588.1:p.Tyr628fs frameshift NM_001407660.1:c.1881dup NP_001394589.1:p.Tyr628fs frameshift NM_001407661.1:c.1881dup NP_001394590.1:p.Tyr628fs frameshift NM_001407662.1:c.1881dup NP_001394591.1:p.Tyr628fs frameshift NM_001407663.1:c.1884dup NP_001394592.1:p.Tyr629fs frameshift NM_001407664.1:c.1839dup NP_001394593.1:p.Tyr614fs frameshift NM_001407665.1:c.1839dup NP_001394594.1:p.Tyr614fs frameshift NM_001407666.1:c.1839dup NP_001394595.1:p.Tyr614fs frameshift NM_001407667.1:c.1839dup NP_001394596.1:p.Tyr614fs frameshift NM_001407668.1:c.1839dup NP_001394597.1:p.Tyr614fs frameshift NM_001407669.1:c.1839dup NP_001394598.1:p.Tyr614fs frameshift NM_001407670.1:c.1836dup NP_001394599.1:p.Tyr613fs frameshift NM_001407671.1:c.1836dup NP_001394600.1:p.Tyr613fs frameshift NM_001407672.1:c.1836dup NP_001394601.1:p.Tyr613fs frameshift NM_001407673.1:c.1836dup NP_001394602.1:p.Tyr613fs frameshift NM_001407674.1:c.1839dup NP_001394603.1:p.Tyr614fs frameshift NM_001407675.1:c.1839dup NP_001394604.1:p.Tyr614fs frameshift NM_001407676.1:c.1839dup NP_001394605.1:p.Tyr614fs frameshift NM_001407677.1:c.1839dup NP_001394606.1:p.Tyr614fs frameshift NM_001407678.1:c.1839dup NP_001394607.1:p.Tyr614fs frameshift NM_001407679.1:c.1839dup NP_001394608.1:p.Tyr614fs frameshift NM_001407680.1:c.1839dup NP_001394609.1:p.Tyr614fs frameshift NM_001407681.1:c.1839dup NP_001394610.1:p.Tyr614fs frameshift NM_001407682.1:c.1839dup NP_001394611.1:p.Tyr614fs frameshift NM_001407683.1:c.1839dup NP_001394612.1:p.Tyr614fs frameshift NM_001407684.1:c.1962dup NP_001394613.1:p.Tyr655fs frameshift NM_001407685.1:c.1836dup NP_001394614.1:p.Tyr613fs frameshift NM_001407686.1:c.1836dup NP_001394615.1:p.Tyr613fs frameshift NM_001407687.1:c.1836dup NP_001394616.1:p.Tyr613fs frameshift NM_001407688.1:c.1836dup NP_001394617.1:p.Tyr613fs frameshift NM_001407689.1:c.1836dup NP_001394618.1:p.Tyr613fs frameshift NM_001407690.1:c.1836dup NP_001394619.1:p.Tyr613fs frameshift NM_001407691.1:c.1836dup NP_001394620.1:p.Tyr613fs frameshift NM_001407692.1:c.1821dup NP_001394621.1:p.Tyr608fs frameshift NM_001407694.1:c.1821dup NP_001394623.1:p.Tyr608fs frameshift NM_001407695.1:c.1821dup NP_001394624.1:p.Tyr608fs frameshift NM_001407696.1:c.1821dup NP_001394625.1:p.Tyr608fs frameshift NM_001407697.1:c.1821dup NP_001394626.1:p.Tyr608fs frameshift NM_001407698.1:c.1821dup NP_001394627.1:p.Tyr608fs frameshift NM_001407724.1:c.1821dup NP_001394653.1:p.Tyr608fs frameshift NM_001407725.1:c.1821dup NP_001394654.1:p.Tyr608fs frameshift NM_001407726.1:c.1821dup NP_001394655.1:p.Tyr608fs frameshift NM_001407727.1:c.1821dup NP_001394656.1:p.Tyr608fs frameshift NM_001407728.1:c.1821dup NP_001394657.1:p.Tyr608fs frameshift NM_001407729.1:c.1821dup NP_001394658.1:p.Tyr608fs frameshift NM_001407730.1:c.1821dup NP_001394659.1:p.Tyr608fs frameshift NM_001407731.1:c.1821dup NP_001394660.1:p.Tyr608fs frameshift NM_001407732.1:c.1821dup NP_001394661.1:p.Tyr608fs frameshift NM_001407733.1:c.1821dup NP_001394662.1:p.Tyr608fs frameshift NM_001407734.1:c.1821dup NP_001394663.1:p.Tyr608fs frameshift NM_001407735.1:c.1821dup NP_001394664.1:p.Tyr608fs frameshift NM_001407736.1:c.1821dup NP_001394665.1:p.Tyr608fs frameshift NM_001407737.1:c.1821dup NP_001394666.1:p.Tyr608fs frameshift NM_001407738.1:c.1821dup NP_001394667.1:p.Tyr608fs frameshift NM_001407739.1:c.1821dup NP_001394668.1:p.Tyr608fs frameshift NM_001407740.1:c.1818dup NP_001394669.1:p.Tyr607fs frameshift NM_001407741.1:c.1818dup NP_001394670.1:p.Tyr607fs frameshift NM_001407742.1:c.1818dup NP_001394671.1:p.Tyr607fs frameshift NM_001407743.1:c.1818dup NP_001394672.1:p.Tyr607fs frameshift NM_001407744.1:c.1818dup NP_001394673.1:p.Tyr607fs frameshift NM_001407745.1:c.1818dup NP_001394674.1:p.Tyr607fs frameshift NM_001407746.1:c.1818dup NP_001394675.1:p.Tyr607fs frameshift NM_001407747.1:c.1818dup NP_001394676.1:p.Tyr607fs frameshift NM_001407748.1:c.1818dup NP_001394677.1:p.Tyr607fs frameshift NM_001407749.1:c.1818dup NP_001394678.1:p.Tyr607fs frameshift NM_001407750.1:c.1821dup NP_001394679.1:p.Tyr608fs frameshift NM_001407751.1:c.1821dup NP_001394680.1:p.Tyr608fs frameshift NM_001407752.1:c.1821dup NP_001394681.1:p.Tyr608fs frameshift NM_001407838.1:c.1818dup NP_001394767.1:p.Tyr607fs frameshift NM_001407839.1:c.1818dup NP_001394768.1:p.Tyr607fs frameshift NM_001407841.1:c.1818dup NP_001394770.1:p.Tyr607fs frameshift NM_001407842.1:c.1818dup NP_001394771.1:p.Tyr607fs frameshift NM_001407843.1:c.1818dup NP_001394772.1:p.Tyr607fs frameshift NM_001407844.1:c.1818dup NP_001394773.1:p.Tyr607fs frameshift NM_001407845.1:c.1818dup NP_001394774.1:p.Tyr607fs frameshift NM_001407846.1:c.1818dup NP_001394775.1:p.Tyr607fs frameshift NM_001407847.1:c.1818dup NP_001394776.1:p.Tyr607fs frameshift NM_001407848.1:c.1818dup NP_001394777.1:p.Tyr607fs frameshift NM_001407849.1:c.1818dup NP_001394778.1:p.Tyr607fs frameshift NM_001407850.1:c.1821dup NP_001394779.1:p.Tyr608fs frameshift NM_001407851.1:c.1821dup NP_001394780.1:p.Tyr608fs frameshift NM_001407852.1:c.1821dup NP_001394781.1:p.Tyr608fs frameshift NM_001407853.1:c.1749dup NP_001394782.1:p.Tyr584fs frameshift NM_001407854.1:c.1962dup NP_001394783.1:p.Tyr655fs frameshift NM_001407858.1:c.1962dup NP_001394787.1:p.Tyr655fs frameshift NM_001407859.1:c.1962dup NP_001394788.1:p.Tyr655fs frameshift NM_001407860.1:c.1959dup NP_001394789.1:p.Tyr654fs frameshift NM_001407861.1:c.1959dup NP_001394790.1:p.Tyr654fs frameshift NM_001407862.1:c.1761dup NP_001394791.1:p.Tyr588fs frameshift NM_001407863.1:c.1839dup NP_001394792.1:p.Tyr614fs frameshift NM_001407874.1:c.1758dup NP_001394803.1:p.Tyr587fs frameshift NM_001407875.1:c.1758dup NP_001394804.1:p.Tyr587fs frameshift NM_001407879.1:c.1752dup NP_001394808.1:p.Tyr585fs frameshift NM_001407881.1:c.1752dup NP_001394810.1:p.Tyr585fs frameshift NM_001407882.1:c.1752dup NP_001394811.1:p.Tyr585fs frameshift NM_001407884.1:c.1752dup NP_001394813.1:p.Tyr585fs frameshift NM_001407885.1:c.1752dup NP_001394814.1:p.Tyr585fs frameshift NM_001407886.1:c.1752dup NP_001394815.1:p.Tyr585fs frameshift NM_001407887.1:c.1752dup NP_001394816.1:p.Tyr585fs frameshift NM_001407889.1:c.1752dup NP_001394818.1:p.Tyr585fs frameshift NM_001407894.1:c.1749dup NP_001394823.1:p.Tyr584fs frameshift NM_001407895.1:c.1749dup NP_001394824.1:p.Tyr584fs frameshift NM_001407896.1:c.1749dup NP_001394825.1:p.Tyr584fs frameshift NM_001407897.1:c.1749dup NP_001394826.1:p.Tyr584fs frameshift NM_001407898.1:c.1749dup NP_001394827.1:p.Tyr584fs frameshift NM_001407899.1:c.1749dup NP_001394828.1:p.Tyr584fs frameshift NM_001407900.1:c.1752dup NP_001394829.1:p.Tyr585fs frameshift NM_001407902.1:c.1752dup NP_001394831.1:p.Tyr585fs frameshift NM_001407904.1:c.1752dup NP_001394833.1:p.Tyr585fs frameshift NM_001407906.1:c.1752dup NP_001394835.1:p.Tyr585fs frameshift NM_001407907.1:c.1752dup NP_001394836.1:p.Tyr585fs frameshift NM_001407908.1:c.1752dup NP_001394837.1:p.Tyr585fs frameshift NM_001407909.1:c.1752dup NP_001394838.1:p.Tyr585fs frameshift NM_001407910.1:c.1752dup NP_001394839.1:p.Tyr585fs frameshift NM_001407915.1:c.1749dup NP_001394844.1:p.Tyr584fs frameshift NM_001407916.1:c.1749dup NP_001394845.1:p.Tyr584fs frameshift NM_001407917.1:c.1749dup NP_001394846.1:p.Tyr584fs frameshift NM_001407918.1:c.1749dup NP_001394847.1:p.Tyr584fs frameshift NM_001407919.1:c.1839dup NP_001394848.1:p.Tyr614fs frameshift NM_001407920.1:c.1698dup NP_001394849.1:p.Tyr567fs frameshift NM_001407921.1:c.1698dup NP_001394850.1:p.Tyr567fs frameshift NM_001407922.1:c.1698dup NP_001394851.1:p.Tyr567fs frameshift NM_001407923.1:c.1698dup NP_001394852.1:p.Tyr567fs frameshift NM_001407924.1:c.1698dup NP_001394853.1:p.Tyr567fs frameshift NM_001407925.1:c.1698dup NP_001394854.1:p.Tyr567fs frameshift NM_001407926.1:c.1698dup NP_001394855.1:p.Tyr567fs frameshift NM_001407927.1:c.1698dup NP_001394856.1:p.Tyr567fs frameshift NM_001407928.1:c.1698dup NP_001394857.1:p.Tyr567fs frameshift NM_001407929.1:c.1698dup NP_001394858.1:p.Tyr567fs frameshift NM_001407930.1:c.1695dup NP_001394859.1:p.Tyr566fs frameshift NM_001407931.1:c.1695dup NP_001394860.1:p.Tyr566fs frameshift NM_001407932.1:c.1695dup NP_001394861.1:p.Tyr566fs frameshift NM_001407933.1:c.1698dup NP_001394862.1:p.Tyr567fs frameshift NM_001407934.1:c.1695dup NP_001394863.1:p.Tyr566fs frameshift NM_001407935.1:c.1698dup NP_001394864.1:p.Tyr567fs frameshift NM_001407936.1:c.1695dup NP_001394865.1:p.Tyr566fs frameshift NM_001407937.1:c.1839dup NP_001394866.1:p.Tyr614fs frameshift NM_001407938.1:c.1839dup NP_001394867.1:p.Tyr614fs frameshift NM_001407939.1:c.1839dup NP_001394868.1:p.Tyr614fs frameshift NM_001407940.1:c.1836dup NP_001394869.1:p.Tyr613fs frameshift NM_001407941.1:c.1836dup NP_001394870.1:p.Tyr613fs frameshift NM_001407942.1:c.1821dup NP_001394871.1:p.Tyr608fs frameshift NM_001407943.1:c.1818dup NP_001394872.1:p.Tyr607fs frameshift NM_001407944.1:c.1821dup NP_001394873.1:p.Tyr608fs frameshift NM_001407945.1:c.1821dup NP_001394874.1:p.Tyr608fs frameshift NM_001407946.1:c.1629dup NP_001394875.1:p.Tyr544fs frameshift NM_001407947.1:c.1629dup NP_001394876.1:p.Tyr544fs frameshift NM_001407948.1:c.1629dup NP_001394877.1:p.Tyr544fs frameshift NM_001407949.1:c.1629dup NP_001394878.1:p.Tyr544fs frameshift NM_001407950.1:c.1629dup NP_001394879.1:p.Tyr544fs frameshift NM_001407951.1:c.1629dup NP_001394880.1:p.Tyr544fs frameshift NM_001407952.1:c.1629dup NP_001394881.1:p.Tyr544fs frameshift NM_001407953.1:c.1629dup NP_001394882.1:p.Tyr544fs frameshift NM_001407954.1:c.1626dup NP_001394883.1:p.Tyr543fs frameshift NM_001407955.1:c.1626dup NP_001394884.1:p.Tyr543fs frameshift NM_001407956.1:c.1626dup NP_001394885.1:p.Tyr543fs frameshift NM_001407957.1:c.1629dup NP_001394886.1:p.Tyr544fs frameshift NM_001407958.1:c.1626dup NP_001394887.1:p.Tyr543fs frameshift NM_001407959.1:c.1581dup NP_001394888.1:p.Tyr528fs frameshift NM_001407960.1:c.1581dup NP_001394889.1:p.Tyr528fs frameshift NM_001407962.1:c.1578dup NP_001394891.1:p.Tyr527fs frameshift NM_001407963.1:c.1581dup NP_001394892.1:p.Tyr528fs frameshift NM_001407964.1:c.1818dup NP_001394893.1:p.Tyr607fs frameshift NM_001407965.1:c.1458dup NP_001394894.1:p.Tyr487fs frameshift NM_001407966.1:c.1074dup NP_001394895.1:p.Tyr359fs frameshift NM_001407967.1:c.1074dup NP_001394896.1:p.Tyr359fs frameshift NM_001407968.1:c.787+1175dup intron variant NM_001407969.1:c.787+1175dup intron variant NM_001407970.1:c.787+1175dup intron variant NM_001407971.1:c.787+1175dup intron variant NM_001407972.1:c.784+1175dup intron variant NM_001407973.1:c.787+1175dup intron variant NM_001407974.1:c.787+1175dup intron variant NM_001407975.1:c.787+1175dup intron variant NM_001407976.1:c.787+1175dup intron variant NM_001407977.1:c.787+1175dup intron variant NM_001407978.1:c.787+1175dup intron variant NM_001407979.1:c.787+1175dup intron variant NM_001407980.1:c.787+1175dup intron variant NM_001407981.1:c.787+1175dup intron variant NM_001407982.1:c.787+1175dup intron variant NM_001407983.1:c.787+1175dup intron variant NM_001407984.1:c.784+1175dup intron variant NM_001407985.1:c.784+1175dup intron variant NM_001407986.1:c.784+1175dup intron variant NM_001407990.1:c.787+1175dup intron variant NM_001407991.1:c.784+1175dup intron variant NM_001407992.1:c.784+1175dup intron variant NM_001407993.1:c.787+1175dup intron variant NM_001408392.1:c.784+1175dup intron variant NM_001408396.1:c.784+1175dup intron variant NM_001408397.1:c.784+1175dup intron variant NM_001408398.1:c.784+1175dup intron variant NM_001408399.1:c.784+1175dup intron variant NM_001408400.1:c.784+1175dup intron variant NM_001408401.1:c.784+1175dup intron variant NM_001408402.1:c.784+1175dup intron variant NM_001408403.1:c.787+1175dup intron variant NM_001408404.1:c.787+1175dup intron variant NM_001408406.1:c.790+1172dup intron variant NM_001408407.1:c.784+1175dup intron variant NM_001408408.1:c.778+1175dup intron variant NM_001408409.1:c.709+1175dup intron variant NM_001408410.1:c.646+1175dup intron variant NM_001408411.1:c.709+1175dup intron variant NM_001408412.1:c.709+1175dup intron variant NM_001408413.1:c.706+1175dup intron variant NM_001408414.1:c.709+1175dup intron variant NM_001408415.1:c.709+1175dup intron variant NM_001408416.1:c.706+1175dup intron variant NM_001408418.1:c.670+2277dup intron variant NM_001408419.1:c.670+2277dup intron variant NM_001408420.1:c.670+2277dup intron variant NM_001408421.1:c.667+2277dup intron variant NM_001408422.1:c.670+2277dup intron variant NM_001408423.1:c.670+2277dup intron variant NM_001408424.1:c.667+2277dup intron variant NM_001408425.1:c.664+1175dup intron variant NM_001408426.1:c.664+1175dup intron variant NM_001408427.1:c.664+1175dup intron variant NM_001408428.1:c.664+1175dup intron variant NM_001408429.1:c.664+1175dup intron variant NM_001408430.1:c.664+1175dup intron variant NM_001408431.1:c.667+2277dup intron variant NM_001408432.1:c.661+1175dup intron variant NM_001408433.1:c.661+1175dup intron variant NM_001408434.1:c.661+1175dup intron variant NM_001408435.1:c.661+1175dup intron variant NM_001408436.1:c.664+1175dup intron variant NM_001408437.1:c.664+1175dup intron variant NM_001408438.1:c.664+1175dup intron variant NM_001408439.1:c.664+1175dup intron variant NM_001408440.1:c.664+1175dup intron variant NM_001408441.1:c.664+1175dup intron variant NM_001408442.1:c.664+1175dup intron variant NM_001408443.1:c.664+1175dup intron variant NM_001408444.1:c.664+1175dup intron variant NM_001408445.1:c.661+1175dup intron variant NM_001408446.1:c.661+1175dup intron variant NM_001408447.1:c.661+1175dup intron variant NM_001408448.1:c.661+1175dup intron variant NM_001408450.1:c.661+1175dup intron variant NM_001408451.1:c.652+1175dup intron variant NM_001408452.1:c.646+1175dup intron variant NM_001408453.1:c.646+1175dup intron variant NM_001408454.1:c.646+1175dup intron variant NM_001408455.1:c.646+1175dup intron variant NM_001408456.1:c.646+1175dup intron variant NM_001408457.1:c.646+1175dup intron variant NM_001408458.1:c.646+1175dup intron variant NM_001408459.1:c.646+1175dup intron variant NM_001408460.1:c.646+1175dup intron variant NM_001408461.1:c.646+1175dup intron variant NM_001408462.1:c.643+1175dup intron variant NM_001408463.1:c.643+1175dup intron variant NM_001408464.1:c.643+1175dup intron variant NM_001408465.1:c.643+1175dup intron variant NM_001408466.1:c.646+1175dup intron variant NM_001408467.1:c.646+1175dup intron variant NM_001408468.1:c.643+1175dup intron variant NM_001408469.1:c.646+1175dup intron variant NM_001408470.1:c.643+1175dup intron variant NM_001408472.1:c.787+1175dup intron variant NM_001408473.1:c.784+1175dup intron variant NM_001408474.1:c.586+1175dup intron variant NM_001408475.1:c.583+1175dup intron variant NM_001408476.1:c.586+1175dup intron variant NM_001408478.1:c.577+1175dup intron variant NM_001408479.1:c.577+1175dup intron variant NM_001408480.1:c.577+1175dup intron variant NM_001408481.1:c.577+1175dup intron variant NM_001408482.1:c.577+1175dup intron variant NM_001408483.1:c.577+1175dup intron variant NM_001408484.1:c.577+1175dup intron variant NM_001408485.1:c.577+1175dup intron variant NM_001408489.1:c.577+1175dup intron variant NM_001408490.1:c.574+1175dup intron variant NM_001408491.1:c.574+1175dup intron variant NM_001408492.1:c.577+1175dup intron variant NM_001408493.1:c.574+1175dup intron variant NM_001408494.1:c.548-2537dup intron variant NM_001408495.1:c.545-2537dup intron variant NM_001408496.1:c.523+1175dup intron variant NM_001408497.1:c.523+1175dup intron variant NM_001408498.1:c.523+1175dup intron variant NM_001408499.1:c.523+1175dup intron variant NM_001408500.1:c.523+1175dup intron variant NM_001408501.1:c.523+1175dup intron variant NM_001408502.1:c.454+1175dup intron variant NM_001408503.1:c.520+1175dup intron variant NM_001408504.1:c.520+1175dup intron variant NM_001408505.1:c.520+1175dup intron variant NM_001408506.1:c.460+2277dup intron variant NM_001408507.1:c.460+2277dup intron variant NM_001408508.1:c.451+1175dup intron variant NM_001408509.1:c.451+1175dup intron variant NM_001408510.1:c.406+1175dup intron variant NM_001408511.1:c.404-2537dup intron variant NM_001408512.1:c.283+1175dup intron variant NM_001408513.1:c.577+1175dup intron variant NM_001408514.1:c.577+1175dup intron variant NM_007297.4:c.1821dup NP_009228.2:p.Tyr608fs frameshift NM_007298.4:c.787+1175dup intron variant NM_007299.4:c.787+1175dup intron variant NM_007300.4:c.1962dup NP_009231.2:p.Tyr655fs frameshift NR_027676.1:n.2098dup NC_000017.11:g.43093569dup NC_000017.10:g.41245586dup NG_005905.2:g.124415dup LRG_292:g.124415dup LRG_292t1:c.1962dup LRG_292p1:p.Tyr655Valfs - Protein change
- Y608fs, Y655fs, Y359fs, Y544fs, Y567fs, Y588fs, Y614fs, Y543fs, Y584fs, Y607fs, Y628fs, Y487fs, Y527fs, Y566fs, Y585fs, Y587fs, Y654fs, Y528fs, Y613fs, Y629fs, Y652fs
- Other names
- -
- Canonical SPDI
- NC_000017.11:43093568:C:CC
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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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Pathogenic (1) |
criteria provided, single submitter
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May 8, 2018 | RCV000709484.19 | |
Pathogenic (1) |
criteria provided, single submitter
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May 28, 2019 | RCV000989900.9 |
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
(May 28, 2019)
|
criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
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Mendelics
Accession: SCV001140590.1
First in ClinVar: Jan 11, 2020 Last updated: Jan 11, 2020 |
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Pathogenic
(May 08, 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: SCV001590581.4
First in ClinVar: May 10, 2021 Last updated: Feb 14, 2024 |
Comment:
Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This sequence change creates a premature translational stop signal (p.Tyr655Valfs*18) in the BRCA1 gene. … (more)
Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This sequence change creates a premature translational stop signal (p.Tyr655Valfs*18) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with breast cancer (PMID: 27741520). A different variant (c.1961dupA) giving rise to the same protein effect observed here (p.Tyr655Valfs*18) has been reported in individuals with breast, ovarian, and prostate cancer (PMID: 7837387, 21324516, 22516946, 22970155, 21559243). The c.1961dupA variant is also known as 2080insA in the literature. For these reasons, this variant has been classified as Pathogenic. (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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Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry. | Fernandes GC | Oncotarget | 2016 | PMID: 27741520 |
Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis. | Kwong A | PloS one | 2012 | PMID: 22970155 |
Germline BRCA1 mutations increase prostate cancer risk. | Leongamornlert D | British journal of cancer | 2012 | PMID: 22516946 |
Breast and Ovarian Cancer Risk due to Prevalence of BRCA1 and BRCA2 Variants in Pakistani Population: A Pakistani Database Report. | Farooq A | Journal of oncology | 2011 | PMID: 21559243 |
Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. | Zhang S | Gynecologic oncology | 2011 | PMID: 21324516 |
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 |
A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening. | Shattuck-Eidens D | JAMA | 1995 | PMID: 7837387 |
Text-mined citations for rs1567797549 ...
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.