ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.1921dup (p.Ile641fs)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.1921dup (p.Ile641fs)
Variation ID: 37434 Accession: VCV000037434.16
- Type and length
-
Duplication, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43093609-43093610 (GRCh38) [ NCBI UCSC ] 17: 41245626-41245627 (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 Sep 27, 2014 May 1, 2024 Sep 8, 2016 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_007294.4:c.1921dup MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_009225.1:p.Ile641fs frameshift NM_001407571.1:c.1708dup NP_001394500.1:p.Ile570fs frameshift NM_001407581.1:c.1921dup NP_001394510.1:p.Ile641fs frameshift NM_001407582.1:c.1921dup NP_001394511.1:p.Ile641fs frameshift NM_001407583.1:c.1921dup NP_001394512.1:p.Ile641fs frameshift NM_001407585.1:c.1921dup NP_001394514.1:p.Ile641fs frameshift NM_001407587.1:c.1918dup NP_001394516.1:p.Ile640fs frameshift NM_001407590.1:c.1918dup NP_001394519.1:p.Ile640fs frameshift NM_001407591.1:c.1918dup NP_001394520.1:p.Ile640fs frameshift NM_001407593.1:c.1921dup NP_001394522.1:p.Ile641fs frameshift NM_001407594.1:c.1921dup NP_001394523.1:p.Ile641fs frameshift NM_001407596.1:c.1921dup NP_001394525.1:p.Ile641fs frameshift NM_001407597.1:c.1921dup NP_001394526.1:p.Ile641fs frameshift NM_001407598.1:c.1921dup NP_001394527.1:p.Ile641fs frameshift NM_001407602.1:c.1921dup NP_001394531.1:p.Ile641fs frameshift NM_001407603.1:c.1921dup NP_001394532.1:p.Ile641fs frameshift NM_001407605.1:c.1921dup NP_001394534.1:p.Ile641fs frameshift NM_001407610.1:c.1918dup NP_001394539.1:p.Ile640fs frameshift NM_001407611.1:c.1918dup NP_001394540.1:p.Ile640fs frameshift NM_001407612.1:c.1918dup NP_001394541.1:p.Ile640fs frameshift NM_001407613.1:c.1918dup NP_001394542.1:p.Ile640fs frameshift NM_001407614.1:c.1918dup NP_001394543.1:p.Ile640fs frameshift NM_001407615.1:c.1918dup NP_001394544.1:p.Ile640fs frameshift NM_001407616.1:c.1921dup NP_001394545.1:p.Ile641fs frameshift NM_001407617.1:c.1921dup NP_001394546.1:p.Ile641fs frameshift NM_001407618.1:c.1921dup NP_001394547.1:p.Ile641fs frameshift NM_001407619.1:c.1921dup NP_001394548.1:p.Ile641fs frameshift NM_001407620.1:c.1921dup NP_001394549.1:p.Ile641fs frameshift NM_001407621.1:c.1921dup NP_001394550.1:p.Ile641fs frameshift NM_001407622.1:c.1921dup NP_001394551.1:p.Ile641fs frameshift NM_001407623.1:c.1921dup NP_001394552.1:p.Ile641fs frameshift NM_001407624.1:c.1921dup NP_001394553.1:p.Ile641fs frameshift NM_001407625.1:c.1921dup NP_001394554.1:p.Ile641fs frameshift NM_001407626.1:c.1921dup NP_001394555.1:p.Ile641fs frameshift NM_001407627.1:c.1918dup NP_001394556.1:p.Ile640fs frameshift NM_001407628.1:c.1918dup NP_001394557.1:p.Ile640fs frameshift NM_001407629.1:c.1918dup NP_001394558.1:p.Ile640fs frameshift NM_001407630.1:c.1918dup NP_001394559.1:p.Ile640fs frameshift NM_001407631.1:c.1918dup NP_001394560.1:p.Ile640fs frameshift NM_001407632.1:c.1918dup NP_001394561.1:p.Ile640fs frameshift NM_001407633.1:c.1918dup NP_001394562.1:p.Ile640fs frameshift NM_001407634.1:c.1918dup NP_001394563.1:p.Ile640fs frameshift NM_001407635.1:c.1918dup NP_001394564.1:p.Ile640fs frameshift NM_001407636.1:c.1918dup NP_001394565.1:p.Ile640fs frameshift NM_001407637.1:c.1918dup NP_001394566.1:p.Ile640fs frameshift NM_001407638.1:c.1918dup NP_001394567.1:p.Ile640fs frameshift NM_001407639.1:c.1921dup NP_001394568.1:p.Ile641fs frameshift NM_001407640.1:c.1921dup NP_001394569.1:p.Ile641fs frameshift NM_001407641.1:c.1921dup NP_001394570.1:p.Ile641fs frameshift NM_001407642.1:c.1921dup NP_001394571.1:p.Ile641fs frameshift NM_001407644.1:c.1918dup NP_001394573.1:p.Ile640fs frameshift NM_001407645.1:c.1918dup NP_001394574.1:p.Ile640fs frameshift NM_001407646.1:c.1912dup NP_001394575.1:p.Ile638fs frameshift NM_001407647.1:c.1912dup NP_001394576.1:p.Ile638fs frameshift NM_001407648.1:c.1798dup NP_001394577.1:p.Ile600fs frameshift NM_001407649.1:c.1795dup NP_001394578.1:p.Ile599fs frameshift NM_001407652.1:c.1921dup NP_001394581.1:p.Ile641fs frameshift NM_001407653.1:c.1843dup NP_001394582.1:p.Ile615fs frameshift NM_001407654.1:c.1843dup NP_001394583.1:p.Ile615fs frameshift NM_001407655.1:c.1843dup NP_001394584.1:p.Ile615fs frameshift NM_001407656.1:c.1843dup NP_001394585.1:p.Ile615fs frameshift NM_001407657.1:c.1843dup NP_001394586.1:p.Ile615fs frameshift NM_001407658.1:c.1843dup NP_001394587.1:p.Ile615fs frameshift NM_001407659.1:c.1840dup NP_001394588.1:p.Ile614fs frameshift NM_001407660.1:c.1840dup NP_001394589.1:p.Ile614fs frameshift NM_001407661.1:c.1840dup NP_001394590.1:p.Ile614fs frameshift NM_001407662.1:c.1840dup NP_001394591.1:p.Ile614fs frameshift NM_001407663.1:c.1843dup NP_001394592.1:p.Ile615fs frameshift NM_001407664.1:c.1798dup NP_001394593.1:p.Ile600fs frameshift NM_001407665.1:c.1798dup NP_001394594.1:p.Ile600fs frameshift NM_001407666.1:c.1798dup NP_001394595.1:p.Ile600fs frameshift NM_001407667.1:c.1798dup NP_001394596.1:p.Ile600fs frameshift NM_001407668.1:c.1798dup NP_001394597.1:p.Ile600fs frameshift NM_001407669.1:c.1798dup NP_001394598.1:p.Ile600fs frameshift NM_001407670.1:c.1795dup NP_001394599.1:p.Ile599fs frameshift NM_001407671.1:c.1795dup NP_001394600.1:p.Ile599fs frameshift NM_001407672.1:c.1795dup NP_001394601.1:p.Ile599fs frameshift NM_001407673.1:c.1795dup NP_001394602.1:p.Ile599fs frameshift NM_001407674.1:c.1798dup NP_001394603.1:p.Ile600fs frameshift NM_001407675.1:c.1798dup NP_001394604.1:p.Ile600fs frameshift NM_001407676.1:c.1798dup NP_001394605.1:p.Ile600fs frameshift NM_001407677.1:c.1798dup NP_001394606.1:p.Ile600fs frameshift NM_001407678.1:c.1798dup NP_001394607.1:p.Ile600fs frameshift NM_001407679.1:c.1798dup NP_001394608.1:p.Ile600fs frameshift NM_001407680.1:c.1798dup NP_001394609.1:p.Ile600fs frameshift NM_001407681.1:c.1798dup NP_001394610.1:p.Ile600fs frameshift NM_001407682.1:c.1798dup NP_001394611.1:p.Ile600fs frameshift NM_001407683.1:c.1798dup NP_001394612.1:p.Ile600fs frameshift NM_001407684.1:c.1921dup NP_001394613.1:p.Ile641fs frameshift NM_001407685.1:c.1795dup NP_001394614.1:p.Ile599fs frameshift NM_001407686.1:c.1795dup NP_001394615.1:p.Ile599fs frameshift NM_001407687.1:c.1795dup NP_001394616.1:p.Ile599fs frameshift NM_001407688.1:c.1795dup NP_001394617.1:p.Ile599fs frameshift NM_001407689.1:c.1795dup NP_001394618.1:p.Ile599fs frameshift NM_001407690.1:c.1795dup NP_001394619.1:p.Ile599fs frameshift NM_001407691.1:c.1795dup NP_001394620.1:p.Ile599fs frameshift NM_001407692.1:c.1780dup NP_001394621.1:p.Ile594fs frameshift NM_001407694.1:c.1780dup NP_001394623.1:p.Ile594fs frameshift NM_001407695.1:c.1780dup NP_001394624.1:p.Ile594fs frameshift NM_001407696.1:c.1780dup NP_001394625.1:p.Ile594fs frameshift NM_001407697.1:c.1780dup NP_001394626.1:p.Ile594fs frameshift NM_001407698.1:c.1780dup NP_001394627.1:p.Ile594fs frameshift NM_001407724.1:c.1780dup NP_001394653.1:p.Ile594fs frameshift NM_001407725.1:c.1780dup NP_001394654.1:p.Ile594fs frameshift NM_001407726.1:c.1780dup NP_001394655.1:p.Ile594fs frameshift NM_001407727.1:c.1780dup NP_001394656.1:p.Ile594fs frameshift NM_001407728.1:c.1780dup NP_001394657.1:p.Ile594fs frameshift NM_001407729.1:c.1780dup NP_001394658.1:p.Ile594fs frameshift NM_001407730.1:c.1780dup NP_001394659.1:p.Ile594fs frameshift NM_001407731.1:c.1780dup NP_001394660.1:p.Ile594fs frameshift NM_001407732.1:c.1780dup NP_001394661.1:p.Ile594fs frameshift NM_001407733.1:c.1780dup NP_001394662.1:p.Ile594fs frameshift NM_001407734.1:c.1780dup NP_001394663.1:p.Ile594fs frameshift NM_001407735.1:c.1780dup NP_001394664.1:p.Ile594fs frameshift NM_001407736.1:c.1780dup NP_001394665.1:p.Ile594fs frameshift NM_001407737.1:c.1780dup NP_001394666.1:p.Ile594fs frameshift NM_001407738.1:c.1780dup NP_001394667.1:p.Ile594fs frameshift NM_001407739.1:c.1780dup NP_001394668.1:p.Ile594fs frameshift NM_001407740.1:c.1777dup NP_001394669.1:p.Ile593fs frameshift NM_001407741.1:c.1777dup NP_001394670.1:p.Ile593fs frameshift NM_001407742.1:c.1777dup NP_001394671.1:p.Ile593fs frameshift NM_001407743.1:c.1777dup NP_001394672.1:p.Ile593fs frameshift NM_001407744.1:c.1777dup NP_001394673.1:p.Ile593fs frameshift NM_001407745.1:c.1777dup NP_001394674.1:p.Ile593fs frameshift NM_001407746.1:c.1777dup NP_001394675.1:p.Ile593fs frameshift NM_001407747.1:c.1777dup NP_001394676.1:p.Ile593fs frameshift NM_001407748.1:c.1777dup NP_001394677.1:p.Ile593fs frameshift NM_001407749.1:c.1777dup NP_001394678.1:p.Ile593fs frameshift NM_001407750.1:c.1780dup NP_001394679.1:p.Ile594fs frameshift NM_001407751.1:c.1780dup NP_001394680.1:p.Ile594fs frameshift NM_001407752.1:c.1780dup NP_001394681.1:p.Ile594fs frameshift NM_001407838.1:c.1777dup NP_001394767.1:p.Ile593fs frameshift NM_001407839.1:c.1777dup NP_001394768.1:p.Ile593fs frameshift NM_001407841.1:c.1777dup NP_001394770.1:p.Ile593fs frameshift NM_001407842.1:c.1777dup NP_001394771.1:p.Ile593fs frameshift NM_001407843.1:c.1777dup NP_001394772.1:p.Ile593fs frameshift NM_001407844.1:c.1777dup NP_001394773.1:p.Ile593fs frameshift NM_001407845.1:c.1777dup NP_001394774.1:p.Ile593fs frameshift NM_001407846.1:c.1777dup NP_001394775.1:p.Ile593fs frameshift NM_001407847.1:c.1777dup NP_001394776.1:p.Ile593fs frameshift NM_001407848.1:c.1777dup NP_001394777.1:p.Ile593fs frameshift NM_001407849.1:c.1777dup NP_001394778.1:p.Ile593fs frameshift NM_001407850.1:c.1780dup NP_001394779.1:p.Ile594fs frameshift NM_001407851.1:c.1780dup NP_001394780.1:p.Ile594fs frameshift NM_001407852.1:c.1780dup NP_001394781.1:p.Ile594fs frameshift NM_001407853.1:c.1708dup NP_001394782.1:p.Ile570fs frameshift NM_001407854.1:c.1921dup NP_001394783.1:p.Ile641fs frameshift NM_001407858.1:c.1921dup NP_001394787.1:p.Ile641fs frameshift NM_001407859.1:c.1921dup NP_001394788.1:p.Ile641fs frameshift NM_001407860.1:c.1918dup NP_001394789.1:p.Ile640fs frameshift NM_001407861.1:c.1918dup NP_001394790.1:p.Ile640fs frameshift NM_001407862.1:c.1720dup NP_001394791.1:p.Ile574fs frameshift NM_001407863.1:c.1798dup NP_001394792.1:p.Ile600fs frameshift NM_001407874.1:c.1717dup NP_001394803.1:p.Ile573fs frameshift NM_001407875.1:c.1717dup NP_001394804.1:p.Ile573fs frameshift NM_001407879.1:c.1711dup NP_001394808.1:p.Ile571fs frameshift NM_001407881.1:c.1711dup NP_001394810.1:p.Ile571fs frameshift NM_001407882.1:c.1711dup NP_001394811.1:p.Ile571fs frameshift NM_001407884.1:c.1711dup NP_001394813.1:p.Ile571fs frameshift NM_001407885.1:c.1711dup NP_001394814.1:p.Ile571fs frameshift NM_001407886.1:c.1711dup NP_001394815.1:p.Ile571fs frameshift NM_001407887.1:c.1711dup NP_001394816.1:p.Ile571fs frameshift NM_001407889.1:c.1711dup NP_001394818.1:p.Ile571fs frameshift NM_001407894.1:c.1708dup NP_001394823.1:p.Ile570fs frameshift NM_001407895.1:c.1708dup NP_001394824.1:p.Ile570fs frameshift NM_001407896.1:c.1708dup NP_001394825.1:p.Ile570fs frameshift NM_001407897.1:c.1708dup NP_001394826.1:p.Ile570fs frameshift NM_001407898.1:c.1708dup NP_001394827.1:p.Ile570fs frameshift NM_001407899.1:c.1708dup NP_001394828.1:p.Ile570fs frameshift NM_001407900.1:c.1711dup NP_001394829.1:p.Ile571fs frameshift NM_001407902.1:c.1711dup NP_001394831.1:p.Ile571fs frameshift NM_001407904.1:c.1711dup NP_001394833.1:p.Ile571fs frameshift NM_001407906.1:c.1711dup NP_001394835.1:p.Ile571fs frameshift NM_001407907.1:c.1711dup NP_001394836.1:p.Ile571fs frameshift NM_001407908.1:c.1711dup NP_001394837.1:p.Ile571fs frameshift NM_001407909.1:c.1711dup NP_001394838.1:p.Ile571fs frameshift NM_001407910.1:c.1711dup NP_001394839.1:p.Ile571fs frameshift NM_001407915.1:c.1708dup NP_001394844.1:p.Ile570fs frameshift NM_001407916.1:c.1708dup NP_001394845.1:p.Ile570fs frameshift NM_001407917.1:c.1708dup NP_001394846.1:p.Ile570fs frameshift NM_001407918.1:c.1708dup NP_001394847.1:p.Ile570fs frameshift NM_001407919.1:c.1798dup NP_001394848.1:p.Ile600fs frameshift NM_001407920.1:c.1657dup NP_001394849.1:p.Ile553fs frameshift NM_001407921.1:c.1657dup NP_001394850.1:p.Ile553fs frameshift NM_001407922.1:c.1657dup NP_001394851.1:p.Ile553fs frameshift NM_001407923.1:c.1657dup NP_001394852.1:p.Ile553fs frameshift NM_001407924.1:c.1657dup NP_001394853.1:p.Ile553fs frameshift NM_001407925.1:c.1657dup NP_001394854.1:p.Ile553fs frameshift NM_001407926.1:c.1657dup NP_001394855.1:p.Ile553fs frameshift NM_001407927.1:c.1657dup NP_001394856.1:p.Ile553fs frameshift NM_001407928.1:c.1657dup NP_001394857.1:p.Ile553fs frameshift NM_001407929.1:c.1657dup NP_001394858.1:p.Ile553fs frameshift NM_001407930.1:c.1654dup NP_001394859.1:p.Ile552fs frameshift NM_001407931.1:c.1654dup NP_001394860.1:p.Ile552fs frameshift NM_001407932.1:c.1654dup NP_001394861.1:p.Ile552fs frameshift NM_001407933.1:c.1657dup NP_001394862.1:p.Ile553fs frameshift NM_001407934.1:c.1654dup NP_001394863.1:p.Ile552fs frameshift NM_001407935.1:c.1657dup NP_001394864.1:p.Ile553fs frameshift NM_001407936.1:c.1654dup NP_001394865.1:p.Ile552fs frameshift NM_001407937.1:c.1798dup NP_001394866.1:p.Ile600fs frameshift NM_001407938.1:c.1798dup NP_001394867.1:p.Ile600fs frameshift NM_001407939.1:c.1798dup NP_001394868.1:p.Ile600fs frameshift NM_001407940.1:c.1795dup NP_001394869.1:p.Ile599fs frameshift NM_001407941.1:c.1795dup NP_001394870.1:p.Ile599fs frameshift NM_001407942.1:c.1780dup NP_001394871.1:p.Ile594fs frameshift NM_001407943.1:c.1777dup NP_001394872.1:p.Ile593fs frameshift NM_001407944.1:c.1780dup NP_001394873.1:p.Ile594fs frameshift NM_001407945.1:c.1780dup NP_001394874.1:p.Ile594fs frameshift NM_001407946.1:c.1588dup NP_001394875.1:p.Ile530fs frameshift NM_001407947.1:c.1588dup NP_001394876.1:p.Ile530fs frameshift NM_001407948.1:c.1588dup NP_001394877.1:p.Ile530fs frameshift NM_001407949.1:c.1588dup NP_001394878.1:p.Ile530fs frameshift NM_001407950.1:c.1588dup NP_001394879.1:p.Ile530fs frameshift NM_001407951.1:c.1588dup NP_001394880.1:p.Ile530fs frameshift NM_001407952.1:c.1588dup NP_001394881.1:p.Ile530fs frameshift NM_001407953.1:c.1588dup NP_001394882.1:p.Ile530fs frameshift NM_001407954.1:c.1585dup NP_001394883.1:p.Ile529fs frameshift NM_001407955.1:c.1585dup NP_001394884.1:p.Ile529fs frameshift NM_001407956.1:c.1585dup NP_001394885.1:p.Ile529fs frameshift NM_001407957.1:c.1588dup NP_001394886.1:p.Ile530fs frameshift NM_001407958.1:c.1585dup NP_001394887.1:p.Ile529fs frameshift NM_001407959.1:c.1540dup NP_001394888.1:p.Ile514fs frameshift NM_001407960.1:c.1540dup NP_001394889.1:p.Ile514fs frameshift NM_001407962.1:c.1537dup NP_001394891.1:p.Ile513fs frameshift NM_001407963.1:c.1540dup NP_001394892.1:p.Ile514fs frameshift NM_001407964.1:c.1777dup NP_001394893.1:p.Ile593fs frameshift NM_001407965.1:c.1417dup NP_001394894.1:p.Ile473fs frameshift NM_001407966.1:c.1033dup NP_001394895.1:p.Ile345fs frameshift NM_001407967.1:c.1033dup NP_001394896.1:p.Ile345fs frameshift NM_001407968.1:c.787+1134dup intron variant NM_001407969.1:c.787+1134dup intron variant NM_001407970.1:c.787+1134dup intron variant NM_001407971.1:c.787+1134dup intron variant NM_001407972.1:c.784+1134dup intron variant NM_001407973.1:c.787+1134dup intron variant NM_001407974.1:c.787+1134dup intron variant NM_001407975.1:c.787+1134dup intron variant NM_001407976.1:c.787+1134dup intron variant NM_001407977.1:c.787+1134dup intron variant NM_001407978.1:c.787+1134dup intron variant NM_001407979.1:c.787+1134dup intron variant NM_001407980.1:c.787+1134dup intron variant NM_001407981.1:c.787+1134dup intron variant NM_001407982.1:c.787+1134dup intron variant NM_001407983.1:c.787+1134dup intron variant NM_001407984.1:c.784+1134dup intron variant NM_001407985.1:c.784+1134dup intron variant NM_001407986.1:c.784+1134dup intron variant NM_001407990.1:c.787+1134dup intron variant NM_001407991.1:c.784+1134dup intron variant NM_001407992.1:c.784+1134dup intron variant NM_001407993.1:c.787+1134dup intron variant NM_001408392.1:c.784+1134dup intron variant NM_001408396.1:c.784+1134dup intron variant NM_001408397.1:c.784+1134dup intron variant NM_001408398.1:c.784+1134dup intron variant NM_001408399.1:c.784+1134dup intron variant NM_001408400.1:c.784+1134dup intron variant NM_001408401.1:c.784+1134dup intron variant NM_001408402.1:c.784+1134dup intron variant NM_001408403.1:c.787+1134dup intron variant NM_001408404.1:c.787+1134dup intron variant NM_001408406.1:c.790+1131dup intron variant NM_001408407.1:c.784+1134dup intron variant NM_001408408.1:c.778+1134dup intron variant NM_001408409.1:c.709+1134dup intron variant NM_001408410.1:c.646+1134dup intron variant NM_001408411.1:c.709+1134dup intron variant NM_001408412.1:c.709+1134dup intron variant NM_001408413.1:c.706+1134dup intron variant NM_001408414.1:c.709+1134dup intron variant NM_001408415.1:c.709+1134dup intron variant NM_001408416.1:c.706+1134dup intron variant NM_001408418.1:c.670+2236dup intron variant NM_001408419.1:c.670+2236dup intron variant NM_001408420.1:c.670+2236dup intron variant NM_001408421.1:c.667+2236dup intron variant NM_001408422.1:c.670+2236dup intron variant NM_001408423.1:c.670+2236dup intron variant NM_001408424.1:c.667+2236dup intron variant NM_001408425.1:c.664+1134dup intron variant NM_001408426.1:c.664+1134dup intron variant NM_001408427.1:c.664+1134dup intron variant NM_001408428.1:c.664+1134dup intron variant NM_001408429.1:c.664+1134dup intron variant NM_001408430.1:c.664+1134dup intron variant NM_001408431.1:c.667+2236dup intron variant NM_001408432.1:c.661+1134dup intron variant NM_001408433.1:c.661+1134dup intron variant NM_001408434.1:c.661+1134dup intron variant NM_001408435.1:c.661+1134dup intron variant NM_001408436.1:c.664+1134dup intron variant NM_001408437.1:c.664+1134dup intron variant NM_001408438.1:c.664+1134dup intron variant NM_001408439.1:c.664+1134dup intron variant NM_001408440.1:c.664+1134dup intron variant NM_001408441.1:c.664+1134dup intron variant NM_001408442.1:c.664+1134dup intron variant NM_001408443.1:c.664+1134dup intron variant NM_001408444.1:c.664+1134dup intron variant NM_001408445.1:c.661+1134dup intron variant NM_001408446.1:c.661+1134dup intron variant NM_001408447.1:c.661+1134dup intron variant NM_001408448.1:c.661+1134dup intron variant NM_001408450.1:c.661+1134dup intron variant NM_001408451.1:c.652+1134dup intron variant NM_001408452.1:c.646+1134dup intron variant NM_001408453.1:c.646+1134dup intron variant NM_001408454.1:c.646+1134dup intron variant NM_001408455.1:c.646+1134dup intron variant NM_001408456.1:c.646+1134dup intron variant NM_001408457.1:c.646+1134dup intron variant NM_001408458.1:c.646+1134dup intron variant NM_001408459.1:c.646+1134dup intron variant NM_001408460.1:c.646+1134dup intron variant NM_001408461.1:c.646+1134dup intron variant NM_001408462.1:c.643+1134dup intron variant NM_001408463.1:c.643+1134dup intron variant NM_001408464.1:c.643+1134dup intron variant NM_001408465.1:c.643+1134dup intron variant NM_001408466.1:c.646+1134dup intron variant NM_001408467.1:c.646+1134dup intron variant NM_001408468.1:c.643+1134dup intron variant NM_001408469.1:c.646+1134dup intron variant NM_001408470.1:c.643+1134dup intron variant NM_001408472.1:c.787+1134dup intron variant NM_001408473.1:c.784+1134dup intron variant NM_001408474.1:c.586+1134dup intron variant NM_001408475.1:c.583+1134dup intron variant NM_001408476.1:c.586+1134dup intron variant NM_001408478.1:c.577+1134dup intron variant NM_001408479.1:c.577+1134dup intron variant NM_001408480.1:c.577+1134dup intron variant NM_001408481.1:c.577+1134dup intron variant NM_001408482.1:c.577+1134dup intron variant NM_001408483.1:c.577+1134dup intron variant NM_001408484.1:c.577+1134dup intron variant NM_001408485.1:c.577+1134dup intron variant NM_001408489.1:c.577+1134dup intron variant NM_001408490.1:c.574+1134dup intron variant NM_001408491.1:c.574+1134dup intron variant NM_001408492.1:c.577+1134dup intron variant NM_001408493.1:c.574+1134dup intron variant NM_001408494.1:c.548-2578dup intron variant NM_001408495.1:c.545-2578dup intron variant NM_001408496.1:c.523+1134dup intron variant NM_001408497.1:c.523+1134dup intron variant NM_001408498.1:c.523+1134dup intron variant NM_001408499.1:c.523+1134dup intron variant NM_001408500.1:c.523+1134dup intron variant NM_001408501.1:c.523+1134dup intron variant NM_001408502.1:c.454+1134dup intron variant NM_001408503.1:c.520+1134dup intron variant NM_001408504.1:c.520+1134dup intron variant NM_001408505.1:c.520+1134dup intron variant NM_001408506.1:c.460+2236dup intron variant NM_001408507.1:c.460+2236dup intron variant NM_001408508.1:c.451+1134dup intron variant NM_001408509.1:c.451+1134dup intron variant NM_001408510.1:c.406+1134dup intron variant NM_001408511.1:c.404-2578dup intron variant NM_001408512.1:c.283+1134dup intron variant NM_001408513.1:c.577+1134dup intron variant NM_001408514.1:c.577+1134dup intron variant NM_007294.3:c.1921dupA frameshift NM_007297.4:c.1780dup NP_009228.2:p.Ile594fs frameshift NM_007298.4:c.787+1134dup intron variant NM_007299.4:c.787+1134dup intron variant NM_007300.4:c.1921dup NP_009231.2:p.Ile641fs frameshift NR_027676.1:n.2055dup NC_000017.11:g.43093612dup NC_000017.10:g.41245629dup NG_005905.2:g.124374dup LRG_292:g.124374dup LRG_292t1:c.1919dup LRG_292p1:p.Ile641Asnfs - Protein change
- I641fs, I594fs, I530fs, I573fs, I614fs, I615fs, I345fs, I473fs, I514fs, I529fs, I552fs, I570fs, I593fs, I638fs, I574fs, I599fs, I513fs, I553fs, I571fs, I600fs, I640fs
- Other names
- 2040insA
- Canonical SPDI
- NC_000017.11:43093609:TTT:TTTT
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
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 | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13037 | 14843 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Pathogenic (4) |
reviewed by expert panel
|
Sep 8, 2016 | RCV000031015.16 | |
Pathogenic (1) |
criteria provided, single submitter
|
Jun 27, 2023 | RCV000129268.14 | |
Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Dec 8, 2023 | RCV001852615.12 |
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. |
|
---|---|---|---|---|---|
Pathogenic
(Sep 08, 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: SCV000299669.2
First in ClinVar: Sep 24, 2016 Last updated: Sep 24, 2016 |
Comment:
Variant allele predicted to encode a truncated non-functional protein.
|
|
Pathogenic
(Oct 02, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
germline
|
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000325183.4
First in ClinVar: Nov 05, 2016 Last updated: Dec 11, 2022 |
|
|
Pathogenic
(-)
|
criteria provided, single submitter
Method: clinical testing
|
Familial breast-ovarian cancer type 1
Affected status: yes
Allele origin:
germline
|
Centogene AG - the Rare Disease Company
Accession: SCV001424376.1
First in ClinVar: Jul 26, 2020 Last updated: Jul 26, 2020 |
|
|
Pathogenic
(Jul 24, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV004029059.1
First in ClinVar: Aug 26, 2023 Last updated: Aug 26, 2023 |
Comment:
Variant summary: BRCA1 c.1921dupA (p.Ile641AsnfsX2) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is … (more)
Variant summary: BRCA1 c.1921dupA (p.Ile641AsnfsX2) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant was absent in 251006 control chromosomes in gnomAD. c.1921dupA has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (example: Cheema_2020, Kwong_2015). These data indicate that the variant is very likely associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 33083013, 26187060). Four submitters have cited clinical-significance assessments for this variant to ClinVar after 2014 (all Pathogenic). Based on the evidence outlined above, the variant was classified as pathogenic. (less)
|
|
Pathogenic
(Dec 08, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV002127334.3
First in ClinVar: Mar 28, 2022 Last updated: Feb 14, 2024 |
Comment:
This sequence change creates a premature translational stop signal (p.Ile641Asnfs*2) 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.Ile641Asnfs*2) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with high-risk of familial breast and/or ovarian cancer (PMID: 26187060). ClinVar contains an entry for this variant (Variation ID: 37434). For these reasons, this variant has been classified as Pathogenic. (less)
|
|
Pathogenic
(Jun 27, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV000184028.8
First in ClinVar: Aug 06, 2014 Last updated: May 01, 2024 |
Comment:
The c.1921dupA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of A at nucleotide position 1921, causing a … (more)
The c.1921dupA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of A at nucleotide position 1921, causing a translational frameshift with a predicted alternate stop codon (p.I641Nfs*2). This mutation has been detected in breast and/or ovarian cancer patients (Kwong A et al. J Med Genet. 2016 Jan;53(1):15-23; LaDuca H et al. PLoS One. 2017 Feb 2;12(2):e0170843; Rebbeck TR et al. Hum Mutat. 2018 May;39(5):593-620). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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)
|
|
Pathogenic
(Apr 15, 2010)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: not provided
Allele origin:
germline
|
Sharing Clinical Reports Project (SCRP)
Accession: SCV000053608.3
First in ClinVar: Apr 04, 2013 Last updated: Sep 27, 2014 |
|
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 |
---|---|---|---|---|
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility. | Cheema H | NPJ genomic medicine | 2020 | PMID: 33083013 |
Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries. | Kwong A | Journal of medical genetics | 2016 | PMID: 26187060 |
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 |
Text-mined citations for rs397507194 ...
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.