ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.1961del (p.Lys654fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_007294.4(BRCA1):c.1961del (p.Lys654fs)
Variation ID: 37438 Accession: VCV000037438.44
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17q21.31 17: 43093570 (GRCh38) [ NCBI UCSC ] 17: 41245587 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 Apr 1, 2014 Oct 8, 2024 Apr 22, 2016 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.1961del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Lys654fs frameshift NM_001407571.1:c.1748del NP_001394500.1:p.Lys583fs frameshift NM_001407581.1:c.1961del NP_001394510.1:p.Lys654fs frameshift NM_001407582.1:c.1961del NP_001394511.1:p.Lys654fs frameshift NM_001407583.1:c.1961del NP_001394512.1:p.Lys654fs frameshift NM_001407585.1:c.1961del NP_001394514.1:p.Lys654fs frameshift NM_001407587.1:c.1958del NP_001394516.1:p.Lys653fs frameshift NM_001407590.1:c.1958del NP_001394519.1:p.Lys653fs frameshift NM_001407591.1:c.1958del NP_001394520.1:p.Lys653fs frameshift NM_001407593.1:c.1961del NP_001394522.1:p.Lys654fs frameshift NM_001407594.1:c.1961del NP_001394523.1:p.Lys654fs frameshift NM_001407596.1:c.1961del NP_001394525.1:p.Lys654fs frameshift NM_001407597.1:c.1961del NP_001394526.1:p.Lys654fs frameshift NM_001407598.1:c.1961del NP_001394527.1:p.Lys654fs frameshift NM_001407602.1:c.1961del NP_001394531.1:p.Lys654fs frameshift NM_001407603.1:c.1961del NP_001394532.1:p.Lys654fs frameshift NM_001407605.1:c.1961del NP_001394534.1:p.Lys654fs frameshift NM_001407610.1:c.1958del NP_001394539.1:p.Lys653fs frameshift NM_001407611.1:c.1958del NP_001394540.1:p.Lys653fs frameshift NM_001407612.1:c.1958del NP_001394541.1:p.Lys653fs frameshift NM_001407613.1:c.1958del NP_001394542.1:p.Lys653fs frameshift NM_001407614.1:c.1958del NP_001394543.1:p.Lys653fs frameshift NM_001407615.1:c.1958del NP_001394544.1:p.Lys653fs frameshift NM_001407616.1:c.1961del NP_001394545.1:p.Lys654fs frameshift NM_001407617.1:c.1961del NP_001394546.1:p.Lys654fs frameshift NM_001407618.1:c.1961del NP_001394547.1:p.Lys654fs frameshift NM_001407619.1:c.1961del NP_001394548.1:p.Lys654fs frameshift NM_001407620.1:c.1961del NP_001394549.1:p.Lys654fs frameshift NM_001407621.1:c.1961del NP_001394550.1:p.Lys654fs frameshift NM_001407622.1:c.1961del NP_001394551.1:p.Lys654fs frameshift NM_001407623.1:c.1961del NP_001394552.1:p.Lys654fs frameshift NM_001407624.1:c.1961del NP_001394553.1:p.Lys654fs frameshift NM_001407625.1:c.1961del NP_001394554.1:p.Lys654fs frameshift NM_001407626.1:c.1961del NP_001394555.1:p.Lys654fs frameshift NM_001407627.1:c.1958del NP_001394556.1:p.Lys653fs frameshift NM_001407628.1:c.1958del NP_001394557.1:p.Lys653fs frameshift NM_001407629.1:c.1958del NP_001394558.1:p.Lys653fs frameshift NM_001407630.1:c.1958del NP_001394559.1:p.Lys653fs frameshift NM_001407631.1:c.1958del NP_001394560.1:p.Lys653fs frameshift NM_001407632.1:c.1958del NP_001394561.1:p.Lys653fs frameshift NM_001407633.1:c.1958del NP_001394562.1:p.Lys653fs frameshift NM_001407634.1:c.1958del NP_001394563.1:p.Lys653fs frameshift NM_001407635.1:c.1958del NP_001394564.1:p.Lys653fs frameshift NM_001407636.1:c.1958del NP_001394565.1:p.Lys653fs frameshift NM_001407637.1:c.1958del NP_001394566.1:p.Lys653fs frameshift NM_001407638.1:c.1958del NP_001394567.1:p.Lys653fs frameshift NM_001407639.1:c.1961del NP_001394568.1:p.Lys654fs frameshift NM_001407640.1:c.1961del NP_001394569.1:p.Lys654fs frameshift NM_001407641.1:c.1961del NP_001394570.1:p.Lys654fs frameshift NM_001407642.1:c.1961del NP_001394571.1:p.Lys654fs frameshift NM_001407644.1:c.1958del NP_001394573.1:p.Lys653fs frameshift NM_001407645.1:c.1958del NP_001394574.1:p.Lys653fs frameshift NM_001407646.1:c.1952del NP_001394575.1:p.Lys651fs frameshift NM_001407647.1:c.1952del NP_001394576.1:p.Lys651fs frameshift NM_001407648.1:c.1838del NP_001394577.1:p.Lys613fs frameshift NM_001407649.1:c.1835del NP_001394578.1:p.Lys612fs frameshift NM_001407652.1:c.1961del NP_001394581.1:p.Lys654fs frameshift NM_001407653.1:c.1883del NP_001394582.1:p.Lys628fs frameshift NM_001407654.1:c.1883del NP_001394583.1:p.Lys628fs frameshift NM_001407655.1:c.1883del NP_001394584.1:p.Lys628fs frameshift NM_001407656.1:c.1883del NP_001394585.1:p.Lys628fs frameshift NM_001407657.1:c.1883del NP_001394586.1:p.Lys628fs frameshift NM_001407658.1:c.1883del NP_001394587.1:p.Lys628fs frameshift NM_001407659.1:c.1880del NP_001394588.1:p.Lys627fs frameshift NM_001407660.1:c.1880del NP_001394589.1:p.Lys627fs frameshift NM_001407661.1:c.1880del NP_001394590.1:p.Lys627fs frameshift NM_001407662.1:c.1880del NP_001394591.1:p.Lys627fs frameshift NM_001407663.1:c.1883del NP_001394592.1:p.Lys628fs frameshift NM_001407664.1:c.1838del NP_001394593.1:p.Lys613fs frameshift NM_001407665.1:c.1838del NP_001394594.1:p.Lys613fs frameshift NM_001407666.1:c.1838del NP_001394595.1:p.Lys613fs frameshift NM_001407667.1:c.1838del NP_001394596.1:p.Lys613fs frameshift NM_001407668.1:c.1838del NP_001394597.1:p.Lys613fs frameshift NM_001407669.1:c.1838del NP_001394598.1:p.Lys613fs frameshift NM_001407670.1:c.1835del NP_001394599.1:p.Lys612fs frameshift NM_001407671.1:c.1835del NP_001394600.1:p.Lys612fs frameshift NM_001407672.1:c.1835del NP_001394601.1:p.Lys612fs frameshift NM_001407673.1:c.1835del NP_001394602.1:p.Lys612fs frameshift NM_001407674.1:c.1838del NP_001394603.1:p.Lys613fs frameshift NM_001407675.1:c.1838del NP_001394604.1:p.Lys613fs frameshift NM_001407676.1:c.1838del NP_001394605.1:p.Lys613fs frameshift NM_001407677.1:c.1838del NP_001394606.1:p.Lys613fs frameshift NM_001407678.1:c.1838del NP_001394607.1:p.Lys613fs frameshift NM_001407679.1:c.1838del NP_001394608.1:p.Lys613fs frameshift NM_001407680.1:c.1838del NP_001394609.1:p.Lys613fs frameshift NM_001407681.1:c.1838del NP_001394610.1:p.Lys613fs frameshift NM_001407682.1:c.1838del NP_001394611.1:p.Lys613fs frameshift NM_001407683.1:c.1838del NP_001394612.1:p.Lys613fs frameshift NM_001407684.1:c.1961del NP_001394613.1:p.Lys654fs frameshift NM_001407685.1:c.1835del NP_001394614.1:p.Lys612fs frameshift NM_001407686.1:c.1835del NP_001394615.1:p.Lys612fs frameshift NM_001407687.1:c.1835del NP_001394616.1:p.Lys612fs frameshift NM_001407688.1:c.1835del NP_001394617.1:p.Lys612fs frameshift NM_001407689.1:c.1835del NP_001394618.1:p.Lys612fs frameshift NM_001407690.1:c.1835del NP_001394619.1:p.Lys612fs frameshift NM_001407691.1:c.1835del NP_001394620.1:p.Lys612fs frameshift NM_001407692.1:c.1820del NP_001394621.1:p.Lys607fs frameshift NM_001407694.1:c.1820del NP_001394623.1:p.Lys607fs frameshift NM_001407695.1:c.1820del NP_001394624.1:p.Lys607fs frameshift NM_001407696.1:c.1820del NP_001394625.1:p.Lys607fs frameshift NM_001407697.1:c.1820del NP_001394626.1:p.Lys607fs frameshift NM_001407698.1:c.1820del NP_001394627.1:p.Lys607fs frameshift NM_001407724.1:c.1820del NP_001394653.1:p.Lys607fs frameshift NM_001407725.1:c.1820del NP_001394654.1:p.Lys607fs frameshift NM_001407726.1:c.1820del NP_001394655.1:p.Lys607fs frameshift NM_001407727.1:c.1820del NP_001394656.1:p.Lys607fs frameshift NM_001407728.1:c.1820del NP_001394657.1:p.Lys607fs frameshift NM_001407729.1:c.1820del NP_001394658.1:p.Lys607fs frameshift NM_001407730.1:c.1820del NP_001394659.1:p.Lys607fs frameshift NM_001407731.1:c.1820del NP_001394660.1:p.Lys607fs frameshift NM_001407732.1:c.1820del NP_001394661.1:p.Lys607fs frameshift NM_001407733.1:c.1820del NP_001394662.1:p.Lys607fs frameshift NM_001407734.1:c.1820del NP_001394663.1:p.Lys607fs frameshift NM_001407735.1:c.1820del NP_001394664.1:p.Lys607fs frameshift NM_001407736.1:c.1820del NP_001394665.1:p.Lys607fs frameshift NM_001407737.1:c.1820del NP_001394666.1:p.Lys607fs frameshift NM_001407738.1:c.1820del NP_001394667.1:p.Lys607fs frameshift NM_001407739.1:c.1820del NP_001394668.1:p.Lys607fs frameshift NM_001407740.1:c.1817del NP_001394669.1:p.Lys606fs frameshift NM_001407741.1:c.1817del NP_001394670.1:p.Lys606fs frameshift NM_001407742.1:c.1817del NP_001394671.1:p.Lys606fs frameshift NM_001407743.1:c.1817del NP_001394672.1:p.Lys606fs frameshift NM_001407744.1:c.1817del NP_001394673.1:p.Lys606fs frameshift NM_001407745.1:c.1817del NP_001394674.1:p.Lys606fs frameshift NM_001407746.1:c.1817del NP_001394675.1:p.Lys606fs frameshift NM_001407747.1:c.1817del NP_001394676.1:p.Lys606fs frameshift NM_001407748.1:c.1817del NP_001394677.1:p.Lys606fs frameshift NM_001407749.1:c.1817del NP_001394678.1:p.Lys606fs frameshift NM_001407750.1:c.1820del NP_001394679.1:p.Lys607fs frameshift NM_001407751.1:c.1820del NP_001394680.1:p.Lys607fs frameshift NM_001407752.1:c.1820del NP_001394681.1:p.Lys607fs frameshift NM_001407838.1:c.1817del NP_001394767.1:p.Lys606fs frameshift NM_001407839.1:c.1817del NP_001394768.1:p.Lys606fs frameshift NM_001407841.1:c.1817del NP_001394770.1:p.Lys606fs frameshift NM_001407842.1:c.1817del NP_001394771.1:p.Lys606fs frameshift NM_001407843.1:c.1817del NP_001394772.1:p.Lys606fs frameshift NM_001407844.1:c.1817del NP_001394773.1:p.Lys606fs frameshift NM_001407845.1:c.1817del NP_001394774.1:p.Lys606fs frameshift NM_001407846.1:c.1817del NP_001394775.1:p.Lys606fs frameshift NM_001407847.1:c.1817del NP_001394776.1:p.Lys606fs frameshift NM_001407848.1:c.1817del NP_001394777.1:p.Lys606fs frameshift NM_001407849.1:c.1817del NP_001394778.1:p.Lys606fs frameshift NM_001407850.1:c.1820del NP_001394779.1:p.Lys607fs frameshift NM_001407851.1:c.1820del NP_001394780.1:p.Lys607fs frameshift NM_001407852.1:c.1820del NP_001394781.1:p.Lys607fs frameshift NM_001407853.1:c.1748del NP_001394782.1:p.Lys583fs frameshift NM_001407854.1:c.1961del NP_001394783.1:p.Lys654fs frameshift NM_001407858.1:c.1961del NP_001394787.1:p.Lys654fs frameshift NM_001407859.1:c.1961del NP_001394788.1:p.Lys654fs frameshift NM_001407860.1:c.1958del NP_001394789.1:p.Lys653fs frameshift NM_001407861.1:c.1958del NP_001394790.1:p.Lys653fs frameshift NM_001407862.1:c.1760del NP_001394791.1:p.Lys587fs frameshift NM_001407863.1:c.1838del NP_001394792.1:p.Lys613fs frameshift NM_001407874.1:c.1757del NP_001394803.1:p.Lys586fs frameshift NM_001407875.1:c.1757del NP_001394804.1:p.Lys586fs frameshift NM_001407879.1:c.1751del NP_001394808.1:p.Lys584fs frameshift NM_001407881.1:c.1751del NP_001394810.1:p.Lys584fs frameshift NM_001407882.1:c.1751del NP_001394811.1:p.Lys584fs frameshift NM_001407884.1:c.1751del NP_001394813.1:p.Lys584fs frameshift NM_001407885.1:c.1751del NP_001394814.1:p.Lys584fs frameshift NM_001407886.1:c.1751del NP_001394815.1:p.Lys584fs frameshift NM_001407887.1:c.1751del NP_001394816.1:p.Lys584fs frameshift NM_001407889.1:c.1751del NP_001394818.1:p.Lys584fs frameshift NM_001407894.1:c.1748del NP_001394823.1:p.Lys583fs frameshift NM_001407895.1:c.1748del NP_001394824.1:p.Lys583fs frameshift NM_001407896.1:c.1748del NP_001394825.1:p.Lys583fs frameshift NM_001407897.1:c.1748del NP_001394826.1:p.Lys583fs frameshift NM_001407898.1:c.1748del NP_001394827.1:p.Lys583fs frameshift NM_001407899.1:c.1748del NP_001394828.1:p.Lys583fs frameshift NM_001407900.1:c.1751del NP_001394829.1:p.Lys584fs frameshift NM_001407902.1:c.1751del NP_001394831.1:p.Lys584fs frameshift NM_001407904.1:c.1751del NP_001394833.1:p.Lys584fs frameshift NM_001407906.1:c.1751del NP_001394835.1:p.Lys584fs frameshift NM_001407907.1:c.1751del NP_001394836.1:p.Lys584fs frameshift NM_001407908.1:c.1751del NP_001394837.1:p.Lys584fs frameshift NM_001407909.1:c.1751del NP_001394838.1:p.Lys584fs frameshift NM_001407910.1:c.1751del NP_001394839.1:p.Lys584fs frameshift NM_001407915.1:c.1748del NP_001394844.1:p.Lys583fs frameshift NM_001407916.1:c.1748del NP_001394845.1:p.Lys583fs frameshift NM_001407917.1:c.1748del NP_001394846.1:p.Lys583fs frameshift NM_001407918.1:c.1748del NP_001394847.1:p.Lys583fs frameshift NM_001407919.1:c.1838del NP_001394848.1:p.Lys613fs frameshift NM_001407920.1:c.1697del NP_001394849.1:p.Lys566fs frameshift NM_001407921.1:c.1697del NP_001394850.1:p.Lys566fs frameshift NM_001407922.1:c.1697del NP_001394851.1:p.Lys566fs frameshift NM_001407923.1:c.1697del NP_001394852.1:p.Lys566fs frameshift NM_001407924.1:c.1697del NP_001394853.1:p.Lys566fs frameshift NM_001407925.1:c.1697del NP_001394854.1:p.Lys566fs frameshift NM_001407926.1:c.1697del NP_001394855.1:p.Lys566fs frameshift NM_001407927.1:c.1697del NP_001394856.1:p.Lys566fs frameshift NM_001407928.1:c.1697del NP_001394857.1:p.Lys566fs frameshift NM_001407929.1:c.1697del NP_001394858.1:p.Lys566fs frameshift NM_001407930.1:c.1694del NP_001394859.1:p.Lys565fs frameshift NM_001407931.1:c.1694del NP_001394860.1:p.Lys565fs frameshift NM_001407932.1:c.1694del NP_001394861.1:p.Lys565fs frameshift NM_001407933.1:c.1697del NP_001394862.1:p.Lys566fs frameshift NM_001407934.1:c.1694del NP_001394863.1:p.Lys565fs frameshift NM_001407935.1:c.1697del NP_001394864.1:p.Lys566fs frameshift NM_001407936.1:c.1694del NP_001394865.1:p.Lys565fs frameshift NM_001407937.1:c.1838del NP_001394866.1:p.Lys613fs frameshift NM_001407938.1:c.1838del NP_001394867.1:p.Lys613fs frameshift NM_001407939.1:c.1838del NP_001394868.1:p.Lys613fs frameshift NM_001407940.1:c.1835del NP_001394869.1:p.Lys612fs frameshift NM_001407941.1:c.1835del NP_001394870.1:p.Lys612fs frameshift NM_001407942.1:c.1820del NP_001394871.1:p.Lys607fs frameshift NM_001407943.1:c.1817del NP_001394872.1:p.Lys606fs frameshift NM_001407944.1:c.1820del NP_001394873.1:p.Lys607fs frameshift NM_001407945.1:c.1820del NP_001394874.1:p.Lys607fs frameshift NM_001407946.1:c.1628del NP_001394875.1:p.Lys543fs frameshift NM_001407947.1:c.1628del NP_001394876.1:p.Lys543fs frameshift NM_001407948.1:c.1628del NP_001394877.1:p.Lys543fs frameshift NM_001407949.1:c.1628del NP_001394878.1:p.Lys543fs frameshift NM_001407950.1:c.1628del NP_001394879.1:p.Lys543fs frameshift NM_001407951.1:c.1628del NP_001394880.1:p.Lys543fs frameshift NM_001407952.1:c.1628del NP_001394881.1:p.Lys543fs frameshift NM_001407953.1:c.1628del NP_001394882.1:p.Lys543fs frameshift NM_001407954.1:c.1625del NP_001394883.1:p.Lys542fs frameshift NM_001407955.1:c.1625del NP_001394884.1:p.Lys542fs frameshift NM_001407956.1:c.1625del NP_001394885.1:p.Lys542fs frameshift NM_001407957.1:c.1628del NP_001394886.1:p.Lys543fs frameshift NM_001407958.1:c.1625del NP_001394887.1:p.Lys542fs frameshift NM_001407959.1:c.1580del NP_001394888.1:p.Lys527fs frameshift NM_001407960.1:c.1580del NP_001394889.1:p.Lys527fs frameshift NM_001407962.1:c.1577del NP_001394891.1:p.Lys526fs frameshift NM_001407963.1:c.1580del NP_001394892.1:p.Lys527fs frameshift NM_001407964.1:c.1817del NP_001394893.1:p.Lys606fs frameshift NM_001407965.1:c.1457del NP_001394894.1:p.Lys486fs frameshift NM_001407966.1:c.1073del NP_001394895.1:p.Lys358fs frameshift NM_001407967.1:c.1073del NP_001394896.1:p.Lys358fs frameshift NM_001407968.1:c.787+1174del intron variant NM_001407969.1:c.787+1174del intron variant NM_001407970.1:c.787+1174del intron variant NM_001407971.1:c.787+1174del intron variant NM_001407972.1:c.784+1174del intron variant NM_001407973.1:c.787+1174del intron variant NM_001407974.1:c.787+1174del intron variant NM_001407975.1:c.787+1174del intron variant NM_001407976.1:c.787+1174del intron variant NM_001407977.1:c.787+1174del intron variant NM_001407978.1:c.787+1174del intron variant NM_001407979.1:c.787+1174del intron variant NM_001407980.1:c.787+1174del intron variant NM_001407981.1:c.787+1174del intron variant NM_001407982.1:c.787+1174del intron variant NM_001407983.1:c.787+1174del intron variant NM_001407984.1:c.784+1174del intron variant NM_001407985.1:c.784+1174del intron variant NM_001407986.1:c.784+1174del intron variant NM_001407990.1:c.787+1174del intron variant NM_001407991.1:c.784+1174del intron variant NM_001407992.1:c.784+1174del intron variant NM_001407993.1:c.787+1174del intron variant NM_001408392.1:c.784+1174del intron variant NM_001408396.1:c.784+1174del intron variant NM_001408397.1:c.784+1174del intron variant NM_001408398.1:c.784+1174del intron variant NM_001408399.1:c.784+1174del intron variant NM_001408400.1:c.784+1174del intron variant NM_001408401.1:c.784+1174del intron variant NM_001408402.1:c.784+1174del intron variant NM_001408403.1:c.787+1174del intron variant NM_001408404.1:c.787+1174del intron variant NM_001408406.1:c.790+1171del intron variant NM_001408407.1:c.784+1174del intron variant NM_001408408.1:c.778+1174del intron variant NM_001408409.1:c.709+1174del intron variant NM_001408410.1:c.646+1174del intron variant NM_001408411.1:c.709+1174del intron variant NM_001408412.1:c.709+1174del intron variant NM_001408413.1:c.706+1174del intron variant NM_001408414.1:c.709+1174del intron variant NM_001408415.1:c.709+1174del intron variant NM_001408416.1:c.706+1174del intron variant NM_001408418.1:c.670+2276del intron variant NM_001408419.1:c.670+2276del intron variant NM_001408420.1:c.670+2276del intron variant NM_001408421.1:c.667+2276del intron variant NM_001408422.1:c.670+2276del intron variant NM_001408423.1:c.670+2276del intron variant NM_001408424.1:c.667+2276del intron variant NM_001408425.1:c.664+1174del intron variant NM_001408426.1:c.664+1174del intron variant NM_001408427.1:c.664+1174del intron variant NM_001408428.1:c.664+1174del intron variant NM_001408429.1:c.664+1174del intron variant NM_001408430.1:c.664+1174del intron variant NM_001408431.1:c.667+2276del intron variant NM_001408432.1:c.661+1174del intron variant NM_001408433.1:c.661+1174del intron variant NM_001408434.1:c.661+1174del intron variant NM_001408435.1:c.661+1174del intron variant NM_001408436.1:c.664+1174del intron variant NM_001408437.1:c.664+1174del intron variant NM_001408438.1:c.664+1174del intron variant NM_001408439.1:c.664+1174del intron variant NM_001408440.1:c.664+1174del intron variant NM_001408441.1:c.664+1174del intron variant NM_001408442.1:c.664+1174del intron variant NM_001408443.1:c.664+1174del intron variant NM_001408444.1:c.664+1174del intron variant NM_001408445.1:c.661+1174del intron variant NM_001408446.1:c.661+1174del intron variant NM_001408447.1:c.661+1174del intron variant NM_001408448.1:c.661+1174del intron variant NM_001408450.1:c.661+1174del intron variant NM_001408451.1:c.652+1174del intron variant NM_001408452.1:c.646+1174del intron variant NM_001408453.1:c.646+1174del intron variant NM_001408454.1:c.646+1174del intron variant NM_001408455.1:c.646+1174del intron variant NM_001408456.1:c.646+1174del intron variant NM_001408457.1:c.646+1174del intron variant NM_001408458.1:c.646+1174del intron variant NM_001408459.1:c.646+1174del intron variant NM_001408460.1:c.646+1174del intron variant NM_001408461.1:c.646+1174del intron variant NM_001408462.1:c.643+1174del intron variant NM_001408463.1:c.643+1174del intron variant NM_001408464.1:c.643+1174del intron variant NM_001408465.1:c.643+1174del intron variant NM_001408466.1:c.646+1174del intron variant NM_001408467.1:c.646+1174del intron variant NM_001408468.1:c.643+1174del intron variant NM_001408469.1:c.646+1174del intron variant NM_001408470.1:c.643+1174del intron variant NM_001408472.1:c.787+1174del intron variant NM_001408473.1:c.784+1174del intron variant NM_001408474.1:c.586+1174del intron variant NM_001408475.1:c.583+1174del intron variant NM_001408476.1:c.586+1174del intron variant NM_001408478.1:c.577+1174del intron variant NM_001408479.1:c.577+1174del intron variant NM_001408480.1:c.577+1174del intron variant NM_001408481.1:c.577+1174del intron variant NM_001408482.1:c.577+1174del intron variant NM_001408483.1:c.577+1174del intron variant NM_001408484.1:c.577+1174del intron variant NM_001408485.1:c.577+1174del intron variant NM_001408489.1:c.577+1174del intron variant NM_001408490.1:c.574+1174del intron variant NM_001408491.1:c.574+1174del intron variant NM_001408492.1:c.577+1174del intron variant NM_001408493.1:c.574+1174del intron variant NM_001408494.1:c.548-2538del intron variant NM_001408495.1:c.545-2538del intron variant NM_001408496.1:c.523+1174del intron variant NM_001408497.1:c.523+1174del intron variant NM_001408498.1:c.523+1174del intron variant NM_001408499.1:c.523+1174del intron variant NM_001408500.1:c.523+1174del intron variant NM_001408501.1:c.523+1174del intron variant NM_001408502.1:c.454+1174del intron variant NM_001408503.1:c.520+1174del intron variant NM_001408504.1:c.520+1174del intron variant NM_001408505.1:c.520+1174del intron variant NM_001408506.1:c.460+2276del intron variant NM_001408507.1:c.460+2276del intron variant NM_001408508.1:c.451+1174del intron variant NM_001408509.1:c.451+1174del intron variant NM_001408510.1:c.406+1174del intron variant NM_001408511.1:c.404-2538del intron variant NM_001408512.1:c.283+1174del intron variant NM_001408513.1:c.577+1174del intron variant NM_001408514.1:c.577+1174del intron variant NM_007294.3:c.1961_1961delA frameshift NM_007294.3:c.1961delA frameshift NM_007297.4:c.1820del NP_009228.2:p.Lys607fs frameshift NM_007298.4:c.787+1174del intron variant NM_007299.4:c.787+1174del intron variant NM_007300.4:c.1961del NP_009231.2:p.Lys654fs frameshift NR_027676.1:n.2090delA NC_000017.11:g.43093577del NC_000017.10:g.41245594del NG_005905.2:g.124414del LRG_292:g.124414del LRG_292t1:c.1954del LRG_292p1:p.Lys654Serfs U14680.1:n.2080delA - Protein change
- K607fs, K654fs, K486fs, K543fs, K651fs, K565fs, K566fs, K583fs, K586fs, K606fs, K653fs, K526fs, K527fs, K542fs, K584fs, K612fs, K613fs, K627fs, K358fs, K587fs, K628fs
- Other names
- 2080delA
- Canonical SPDI
- NC_000017.11:43093569:TTTTTTTT:TTTTTTT
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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 (14) |
reviewed by expert panel
|
Apr 22, 2016 | RCV000031019.29 | |
Pathogenic (7) |
criteria provided, multiple submitters, no conflicts
|
Jan 18, 2024 | RCV000047660.34 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Jun 21, 2024 | RCV000130764.21 | |
Pathogenic (8) |
criteria provided, multiple submitters, no conflicts
|
May 1, 2024 | RCV000236783.27 | |
Pathogenic (1) |
criteria provided, single submitter
|
- | RCV000414241.9 | |
Pathogenic (1) |
criteria provided, single submitter
|
Sep 14, 2017 | RCV000677808.9 | |
Pathogenic (1) |
no assertion criteria provided
|
- | RCV001353950.10 | |
Pathogenic (1) |
criteria provided, single submitter
|
Nov 30, 2020 | RCV001705613.9 | |
Pathogenic (1) |
no assertion criteria provided
|
- | RCV002250470.9 |
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
(Apr 22, 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: SCV000282269.1
First in ClinVar: Jun 24, 2016 Last updated: Jun 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
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Pathogenic
(Jun 27, 2017)
|
criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000785270.2
First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
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Pathogenic
(Apr 18, 2022)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
|
Revvity Omics, Revvity
Accession: SCV003809191.2
First in ClinVar: Mar 04, 2023 Last updated: Feb 04, 2024 |
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Pathogenic
(Jan 18, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000075673.15
First in ClinVar: Jul 03, 2013 Last updated: Feb 20, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Lys654Serfs*47) 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.Lys654Serfs*47) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with breast, ovarian, and endometrial cancer (PMID: 7493024, 12955716, 17645508, 23633455, 26026974). This variant is also known as 2073delA and 2080delA. ClinVar contains an entry for this variant (Variation ID: 37438). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Jan 11, 2024)
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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:
unknown
|
Baylor Genetics
Accession: SCV004212744.2
First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024 |
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Pathogenic
(Jun 14, 2016)
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criteria provided, single submitter
Method: clinical testing
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Hereditary Breast and Ovarian Cancer
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV000403071.2
First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
Comment:
The c.1961delA (p.Lys654SerfsTer47) variant (also commonly referred to as c.2080delA) results in a frameshift, and is predicted to result in premature termination of the protein. … (more)
The c.1961delA (p.Lys654SerfsTer47) variant (also commonly referred to as c.2080delA) results in a frameshift, and is predicted to result in premature termination of the protein. Across a selection of the available literature, the p.Lys654SerfsTer47 variant has been identified in a heterozygous state in 29 cases of breast or ovarian cancer (Gayther et al. 1995; Risch et al. 2001; Curci et al. 2002; Diez et al. 2003; Martinez-Ferrandis et al. 2003; Ahn et al. 2007; Kwon et al. 2008; Iyevleva et al. 2010; Kim et al. 2012; Kang et al. 2015; de Juan Jiminez et al. 2013; George et al. 2013; Abugattas et al. 2014; Silva et al. 2014). The variant was absent from 100 controls and is reported at a frequency of 0.00002 in the European (Non-Finnish) population of the Exome Aggregation Consortium Project but this is based on one allele so the variant is presumed to be rare. Most variants in the BRCA1 gene that have been shown to be associated with breast and ovarian cancer are frameshift variants resulting in a non-functional protein. Based on the potential impact of frameshift variants and the available evidence, the p.Lys654SerfsTer47 variant is classified as pathogenic for hereditary breast and ovarian cancer syndrome. (less)
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Pathogenic
(-)
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criteria provided, single submitter
Method: research
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Breast Cancer
Affected status: yes
Allele origin:
germline
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A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center
Accession: SCV000492455.1
First in ClinVar: Jan 09, 2017 Last updated: Jan 09, 2017 |
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Pathogenic
(Mar 16, 2017)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV000806905.1
First in ClinVar: Sep 13, 2018 Last updated: Sep 13, 2018 |
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Pathogenic
(Nov 30, 2020)
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criteria provided, single submitter
Method: clinical testing
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Fanconi anemia, complementation group S
Affected status: yes
Allele origin:
unknown
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Institute of Human Genetics, University of Leipzig Medical Center
Accession: SCV001934342.1
First in ClinVar: Sep 25, 2021 Last updated: Sep 25, 2021 |
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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: SCV000325202.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
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Pathogenic
(Aug 03, 2017)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: not provided
Allele origin:
germline
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CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV000324814.2
First in ClinVar: Jul 01, 2016 Last updated: Jan 06, 2024 |
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Pathogenic
(Sep 20, 2023)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV000688356.4
First in ClinVar: Feb 19, 2018 Last updated: Feb 14, 2024 |
Comment:
This variant deletes 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is also known … (more)
This variant deletes 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is also known as 2073delA in the literature. This variant is expected to result in an absent or non-functional protein product. This variant has been observed in over 20 individuals and families affected with breast, ovarian and endometrial cancer (PMID: 7493024, 11179017, 11956590, 14517958, 14760071, 16455195, 17645508, 20727672, 22711857, 22798144, 23479189, 25256238, 28324225, 33471991; Leiden Open Variation Database DB-ID BRCA1_000177) and one individual each affected with prostate cancer (PMID: 31214711) and hemangioblastoma (PMID: 24884479). This variant has been identified in 3/282102 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
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Pathogenic
(Jan 08, 2024)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 1
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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All of Us Research Program, National Institutes of Health
Accession: SCV004818243.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
|
Comment:
This variant deletes 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is also known … (more)
This variant deletes 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is also known as 2073delA in the literature. This variant is expected to result in an absent or non-functional protein product. This variant has been observed in over 20 individuals and families affected with breast, ovarian and endometrial cancer (PMID: 7493024, 11179017, 11956590, 14517958, 14760071, 16455195, 17645508, 20727672, 22711857, 22798144, 23479189, 25256238, 28324225, 33471991; Leiden Open Variation Database DB-ID BRCA1_000177) and one individual each affected with prostate cancer (PMID: 31214711) and hemangioblastoma (PMID: 24884479). This variant has been identified in 3/282102 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. (less)
Number of individuals with the variant: 2
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Pathogenic
(Nov 03, 2014)
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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:
germline
|
Michigan Medical Genetics Laboratories, University of Michigan
Accession: SCV000195897.1
First in ClinVar: May 06, 2016 Last updated: May 06, 2016 |
Tissue: Blood
|
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Pathogenic
(Jan 01, 2017)
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criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: yes
Allele origin:
germline
|
Genologica Medica
Additional submitter:
Servicio Andaluz de Salud, Hospital Universitario Virgen de la Victoria
Accession: SCV000577925.1
First in ClinVar: Nov 05, 2016 Last updated: Nov 05, 2016 |
Family history: yes
Ethnicity/Population group: Causasians
Geographic origin: Spain
Tissue: Blood
Secondary finding: no
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Pathogenic
(Apr 20, 2017)
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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
|
Department of Pathology and Molecular Medicine, Queen's University
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000588035.1 First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
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Pathogenic
(Sep 21, 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: yes
Allele origin:
germline
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Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000744670.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
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Pathogenic
(Sep 14, 2017)
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criteria provided, single submitter
Method: clinical testing
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Invasive Ductal Carcinoma, Not Otherwise Specified
Affected status: yes
Allele origin:
germline
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3DMed Clinical Laboratory Inc
Accession: SCV000803967.1
First in ClinVar: Aug 26, 2018 Last updated: Aug 26, 2018 |
|
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Pathogenic
(Jan 01, 2020)
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criteria provided, single submitter
Method: clinical testing
|
Hereditary breast and ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
GeneKor MSA
Accession: SCV000693514.2
First in ClinVar: Dec 26, 2017 Last updated: May 04, 2020 |
Comment:
This variant is a single base pair deletion at amino acid residue 654 of the BRCA1 gene. It results in a frame-shift, creating a new … (more)
This variant is a single base pair deletion at amino acid residue 654 of the BRCA1 gene. It results in a frame-shift, creating a new stop codon after 47 amino acids, thus resulting in a truncated, non-functional protein. Truncating variants in BRCA1 are known to be pathogenic. This variant is also known as 2073delA and 2080delA and has been reported in the literature in patients affected with breast, ovarian, and endometrial cancer (PMID: 7493024, 12955716, 17645508). The mutation database ClinVar contains entries for this variant (Variation ID: 37438). (less)
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Pathogenic
(Jul 23, 2020)
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criteria provided, single submitter
Method: clinical testing
|
Hereditary breast and ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000698901.2
First in ClinVar: Dec 26, 2017 Last updated: Aug 10, 2020 |
Comment:
Variant summary: BRCA1 c.1961delA (p.Lys654SerfsX47) 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.1961delA (p.Lys654SerfsX47) 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 allele was found at a frequency of 8e-06 in 250730 control chromosomes (gnomAD). c.1961delA has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (e.g. Gayther_1995, Grushko_2004, Alsop_2012, de Juan_2015, Rebbeck_2018). These data indicate that the variant is very likely to be associated with disease. Sixteen ClinVar submitters including an expert panel (ENIGMA) (evaluation after 2014) cite the variant as pathogenic, while one ClinVar submitter (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(May 27, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000296329.4
First in ClinVar: Jun 24, 2016 Last updated: Jan 26, 2021 |
Comment:
The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in … (more)
The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and found in general population data at a frequency that is consistent with pathogenicity. (less)
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Pathogenic
(Apr 02, 2020)
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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:
germline
|
Department of Molecular Diagnostics, Institute of Oncology Ljubljana
Accession: SCV001499619.1
First in ClinVar: Mar 07, 2021 Last updated: Mar 07, 2021 |
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Pathogenic
(Nov 10, 2020)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000292510.12
First in ClinVar: Jul 24, 2016 Last updated: Mar 04, 2023 |
Comment:
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed … (more)
Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed in individuals with a personal or family history consistent with pathogenic variants in this gene, and reported as a recurrent variant in Spanish populations (Gayther 1995, Risch 2001, Diez 2003, de Juan Jimenez 2013, Abugattas 2015, Couch 2015, de Juan 2015, Kang 2015); Not observed at a significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; This variant is associated with the following publications: (PMID: 25452441, 11595708, 27376475, 16455195, 11956590, 26026974, 29310832, 7493024, 23633455, 12955716, 22798144, 11179017, 20727672, 17645508, 14517958, 16234499, 25256238, 25863477, 23479189, 26295337, 27533253, 27167707, 28324225, 29928469, 28831036, 29907814, 30606148, 30720863, 28176296, 30720243, 30014164, 30322717, 31090900, 29625052, 26689913, 30350268, 31214711, 33654310, 32341426, 31825140) (less)
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Pathogenic
(Aug 15, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV004026796.1
First in ClinVar: Aug 19, 2023 Last updated: Aug 19, 2023 |
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Pathogenic
(Jun 21, 2024)
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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: SCV000185656.9
First in ClinVar: Aug 06, 2014 Last updated: Aug 11, 2024 |
Comment:
The c.1961delA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 1961, causing … (more)
The c.1961delA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 1961, causing a translational frameshift with a predicted alternate stop codon (p.K654Sfs*47). This mutation has been reported numerous times in the literature in breast and breast/ovarian cancer families, including in a case of male breast cancer (Gayther SA et al. Nat. Genet. 1995 Dec;11(4):428-33; George J et al. Clin. Cancer Res. 2013 Jul;19(13):3474-84; de Juan Jiménez I et al. Fam. Cancer. 2013 Dec;12(4):767-77; Abugattas J et al. Clin. Genet. 2015 Oct;88(4):371-5; de Juan I et al. Fam. Cancer, 2015 Dec;14:505-13; Meisel C et al. Arch Gynecol Obstet. 2017 May;295(5):1227-1238). Of note, this alteration is also designated as 2080delA in published literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. (less)
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Pathogenic
(May 01, 2024)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV005075093.3
First in ClinVar: Jul 15, 2024 Last updated: Oct 08, 2024 |
Comment:
BRCA1: PVS1, PM2, PS4:Moderate
Number of individuals with the variant: 1
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Pathogenic
(Feb 11, 2015)
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no assertion criteria provided
(clinical testing)
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
|
Institute of Human Genetics, Medical University Innsbruck
Study: BRCA-Tyrol
Accession: SCV000211994.1 First in ClinVar: Mar 03, 2015 Last updated: Mar 03, 2015
Comment:
BRCA-mutation spectrum Western Austria
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Pathogenic
(Jan 08, 2014)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
|
Sharing Clinical Reports Project (SCRP)
Accession: SCV000053612.6
First in ClinVar: Apr 04, 2013 Last updated: Jun 24, 2016 |
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Pathogenic
(May 29, 2002)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
|
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000144262.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 24
Observation 2:
Number of individuals with the variant: 5
Geographic origin: Netherlands
Observation 3:
Number of individuals with the variant: 1
Geographic origin: Western European
Observation 4:
Number of individuals with the variant: 1
Ethnicity/Population group: Slavic
Geographic origin: Russia
Observation 5:
Number of individuals with the variant: 8
Ethnicity/Population group: Western European
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Pathogenic
(-)
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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
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000733652.1 First in ClinVar: Apr 09, 2018 Last updated: Apr 09, 2018 |
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Pathogenic
(Jan 31, 2014)
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no assertion criteria provided
Method: research
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Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
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Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587176.1 First in ClinVar: Dec 06, 2016 Last updated: Dec 06, 2016 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Malignant tumor of breast
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000591357.2 First in ClinVar: Aug 27, 2017 Last updated: Apr 13, 2021 |
Comment:
The BRCA1 p.Lys654Serfs*47 variant was identified in 5 of 1160 proband chromosomes (frequency: 0.004) from individuals or families with breast or ovarian cancer (Al-Mulla 2008, … (more)
The BRCA1 p.Lys654Serfs*47 variant was identified in 5 of 1160 proband chromosomes (frequency: 0.004) from individuals or families with breast or ovarian cancer (Al-Mulla 2008, de Juan 2015, Diez 2003). The variant was also identified in dbSNP (ID: rs80357522), ClinVar (classified as pathogenic by Invitae, GeneDx, Ambry Genetics and sixteen other submitters), and in LOVD 3.0 (58X ).The variant was not identified in UMD-LSDB. The variant was not identified in the following control databases: the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The c.1961del variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 654 and leads to a premature stop codon at position 700. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the BRCA1 gene are an established mechanism of disease in BRCA1 associated cancers and is the type of variant expected to cause the disorder. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic. (less)
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001906400.1 First in ClinVar: Sep 25, 2021 Last updated: Sep 25, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001932662.1 First in ClinVar: Sep 25, 2021 Last updated: Sep 25, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: literature only
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Familial cancer of breast
Affected status: yes
Allele origin:
germline
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Center for Precision Medicine, Meizhou People's Hospital
Accession: SCV002520892.1
First in ClinVar: Jun 05, 2022 Last updated: Jun 05, 2022 |
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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
|
BRCAlab, Lund University
Accession: SCV004244108.1
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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Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. | Breast Cancer Association Consortium | The New England journal of medicine | 2021 | PMID: 33471991 |
Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls. | Momozawa Y | Journal of the National Cancer Institute | 2020 | PMID: 31214711 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study. | Meisel C | Archives of gynecology and obstetrics | 2017 | PMID: 28324225 |
Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory. | Strom CM | PloS one | 2015 | PMID: 26295337 |
BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study. | de Juan I | Familial cancer | 2015 | PMID: 26026974 |
The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study. | Kang E | Breast cancer research and treatment | 2015 | PMID: 25863477 |
Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru. | Abugattas J | Clinical genetics | 2015 | PMID: 25256238 |
Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients. | Silva FC | BMC medical genetics | 2014 | PMID: 24884479 |
Nonequivalent gene expression and copy number alterations in high-grade serous ovarian cancers with BRCA1 and BRCA2 mutations. | George J | Clinical cancer research : an official journal of the American Association for Cancer Research | 2013 | PMID: 23633455 |
Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence. | de Juan Jiménez I | Familial cancer | 2013 | PMID: 23479189 |
Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil. | Carraro DM | PloS one | 2013 | PMID: 23469205 |
Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer. | Kim H | Breast cancer research and treatment | 2012 | PMID: 22798144 |
BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group. | Alsop K | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2012 | PMID: 22711857 |
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. | Hondow HL | BMC cancer | 2011 | PMID: 21702907 |
Non-founder BRCA1 mutations in Russian breast cancer patients. | Iyevleva AG | Cancer letters | 2010 | PMID: 20727672 |
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 |
Prolonged survival among women with BRCA germline mutations and advanced endometrial cancer: a case series. | Kwon JS | International journal of gynecological cancer : official journal of the International Gynecological Cancer Society | 2008 | PMID: 17645508 |
BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations. | Ahn SH | Cancer letters | 2007 | PMID: 16455195 |
Nonsense-mediated mRNA decay: terminating erroneous gene expression. | Baker KE | Current opinion in cell biology | 2004 | PMID: 15145354 |
MYC is amplified in BRCA1-associated breast cancers. | Grushko TA | Clinical cancer research : an official journal of the American Association for Cancer Research | 2004 | PMID: 14760071 |
Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early-onset breast cancer: identification of three novel pathogenic mutations. | Martínez-Ferrandis JI | Human mutation | 2003 | PMID: 14517958 |
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. | Díez O | Human mutation | 2003 | PMID: 12955716 |
BRCA1 and BRCA2 mutations in Scotland and Northern Ireland. | Scottish/Northern Irish BRCAI/BRCA2 Consortium | British journal of cancer | 2003 | PMID: 12698193 |
Characterization of 2 novel and 2 recurring BRCA1 germline mutations in breast and/or ovarian carcinoma patients from the area of Naples. | Curci A | International journal of oncology | 2002 | PMID: 11956590 |
Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. | Risch HA | American journal of human genetics | 2001 | PMID: 11179017 |
Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. | Gayther SA | Nature genetics | 1995 | PMID: 7493024 |
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Text-mined citations for rs80357522 ...
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.