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NM_007294.4(BRCA1):c.2475del (p.Asp825fs) AND not specified

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 25, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001000474.15

Allele description [Variation Report for NM_007294.4(BRCA1):c.2475del (p.Asp825fs)]

NM_007294.4(BRCA1):c.2475del (p.Asp825fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.2475del (p.Asp825fs)
HGVS:
  • NC_000017.11:g.43093056del
  • NG_005905.2:g.124928del
  • NM_001407571.1:c.2262del
  • NM_001407581.1:c.2475del
  • NM_001407582.1:c.2475del
  • NM_001407583.1:c.2475del
  • NM_001407585.1:c.2475del
  • NM_001407587.1:c.2472del
  • NM_001407590.1:c.2472del
  • NM_001407591.1:c.2472del
  • NM_001407593.1:c.2475del
  • NM_001407594.1:c.2475del
  • NM_001407596.1:c.2475del
  • NM_001407597.1:c.2475del
  • NM_001407598.1:c.2475del
  • NM_001407602.1:c.2475del
  • NM_001407603.1:c.2475del
  • NM_001407605.1:c.2475del
  • NM_001407610.1:c.2472del
  • NM_001407611.1:c.2472del
  • NM_001407612.1:c.2472del
  • NM_001407613.1:c.2472del
  • NM_001407614.1:c.2472del
  • NM_001407615.1:c.2472del
  • NM_001407616.1:c.2475del
  • NM_001407617.1:c.2475del
  • NM_001407618.1:c.2475del
  • NM_001407619.1:c.2475del
  • NM_001407620.1:c.2475del
  • NM_001407621.1:c.2475del
  • NM_001407622.1:c.2475del
  • NM_001407623.1:c.2475del
  • NM_001407624.1:c.2475del
  • NM_001407625.1:c.2475del
  • NM_001407626.1:c.2475del
  • NM_001407627.1:c.2472del
  • NM_001407628.1:c.2472del
  • NM_001407629.1:c.2472del
  • NM_001407630.1:c.2472del
  • NM_001407631.1:c.2472del
  • NM_001407632.1:c.2472del
  • NM_001407633.1:c.2472del
  • NM_001407634.1:c.2472del
  • NM_001407635.1:c.2472del
  • NM_001407636.1:c.2472del
  • NM_001407637.1:c.2472del
  • NM_001407638.1:c.2472del
  • NM_001407639.1:c.2475del
  • NM_001407640.1:c.2475del
  • NM_001407641.1:c.2475del
  • NM_001407642.1:c.2475del
  • NM_001407644.1:c.2472del
  • NM_001407645.1:c.2472del
  • NM_001407646.1:c.2466del
  • NM_001407647.1:c.2466del
  • NM_001407648.1:c.2352del
  • NM_001407649.1:c.2349del
  • NM_001407652.1:c.2475del
  • NM_001407653.1:c.2397del
  • NM_001407654.1:c.2397del
  • NM_001407655.1:c.2397del
  • NM_001407656.1:c.2397del
  • NM_001407657.1:c.2397del
  • NM_001407658.1:c.2397del
  • NM_001407659.1:c.2394del
  • NM_001407660.1:c.2394del
  • NM_001407661.1:c.2394del
  • NM_001407662.1:c.2394del
  • NM_001407663.1:c.2397del
  • NM_001407664.1:c.2352del
  • NM_001407665.1:c.2352del
  • NM_001407666.1:c.2352del
  • NM_001407667.1:c.2352del
  • NM_001407668.1:c.2352del
  • NM_001407669.1:c.2352del
  • NM_001407670.1:c.2349del
  • NM_001407671.1:c.2349del
  • NM_001407672.1:c.2349del
  • NM_001407673.1:c.2349del
  • NM_001407674.1:c.2352del
  • NM_001407675.1:c.2352del
  • NM_001407676.1:c.2352del
  • NM_001407677.1:c.2352del
  • NM_001407678.1:c.2352del
  • NM_001407679.1:c.2352del
  • NM_001407680.1:c.2352del
  • NM_001407681.1:c.2352del
  • NM_001407682.1:c.2352del
  • NM_001407683.1:c.2352del
  • NM_001407684.1:c.2475del
  • NM_001407685.1:c.2349del
  • NM_001407686.1:c.2349del
  • NM_001407687.1:c.2349del
  • NM_001407688.1:c.2349del
  • NM_001407689.1:c.2349del
  • NM_001407690.1:c.2349del
  • NM_001407691.1:c.2349del
  • NM_001407692.1:c.2334del
  • NM_001407694.1:c.2334del
  • NM_001407695.1:c.2334del
  • NM_001407696.1:c.2334del
  • NM_001407697.1:c.2334del
  • NM_001407698.1:c.2334del
  • NM_001407724.1:c.2334del
  • NM_001407725.1:c.2334del
  • NM_001407726.1:c.2334del
  • NM_001407727.1:c.2334del
  • NM_001407728.1:c.2334del
  • NM_001407729.1:c.2334del
  • NM_001407730.1:c.2334del
  • NM_001407731.1:c.2334del
  • NM_001407732.1:c.2334del
  • NM_001407733.1:c.2334del
  • NM_001407734.1:c.2334del
  • NM_001407735.1:c.2334del
  • NM_001407736.1:c.2334del
  • NM_001407737.1:c.2334del
  • NM_001407738.1:c.2334del
  • NM_001407739.1:c.2334del
  • NM_001407740.1:c.2331del
  • NM_001407741.1:c.2331del
  • NM_001407742.1:c.2331del
  • NM_001407743.1:c.2331del
  • NM_001407744.1:c.2331del
  • NM_001407745.1:c.2331del
  • NM_001407746.1:c.2331del
  • NM_001407747.1:c.2331del
  • NM_001407748.1:c.2331del
  • NM_001407749.1:c.2331del
  • NM_001407750.1:c.2334del
  • NM_001407751.1:c.2334del
  • NM_001407752.1:c.2334del
  • NM_001407838.1:c.2331del
  • NM_001407839.1:c.2331del
  • NM_001407841.1:c.2331del
  • NM_001407842.1:c.2331del
  • NM_001407843.1:c.2331del
  • NM_001407844.1:c.2331del
  • NM_001407845.1:c.2331del
  • NM_001407846.1:c.2331del
  • NM_001407847.1:c.2331del
  • NM_001407848.1:c.2331del
  • NM_001407849.1:c.2331del
  • NM_001407850.1:c.2334del
  • NM_001407851.1:c.2334del
  • NM_001407852.1:c.2334del
  • NM_001407853.1:c.2262del
  • NM_001407854.1:c.2475del
  • NM_001407858.1:c.2475del
  • NM_001407859.1:c.2475del
  • NM_001407860.1:c.2472del
  • NM_001407861.1:c.2472del
  • NM_001407862.1:c.2274del
  • NM_001407863.1:c.2352del
  • NM_001407874.1:c.2271del
  • NM_001407875.1:c.2271del
  • NM_001407879.1:c.2265del
  • NM_001407881.1:c.2265del
  • NM_001407882.1:c.2265del
  • NM_001407884.1:c.2265del
  • NM_001407885.1:c.2265del
  • NM_001407886.1:c.2265del
  • NM_001407887.1:c.2265del
  • NM_001407889.1:c.2265del
  • NM_001407894.1:c.2262del
  • NM_001407895.1:c.2262del
  • NM_001407896.1:c.2262del
  • NM_001407897.1:c.2262del
  • NM_001407898.1:c.2262del
  • NM_001407899.1:c.2262del
  • NM_001407900.1:c.2265del
  • NM_001407902.1:c.2265del
  • NM_001407904.1:c.2265del
  • NM_001407906.1:c.2265del
  • NM_001407907.1:c.2265del
  • NM_001407908.1:c.2265del
  • NM_001407909.1:c.2265del
  • NM_001407910.1:c.2265del
  • NM_001407915.1:c.2262del
  • NM_001407916.1:c.2262del
  • NM_001407917.1:c.2262del
  • NM_001407918.1:c.2262del
  • NM_001407919.1:c.2352del
  • NM_001407920.1:c.2211del
  • NM_001407921.1:c.2211del
  • NM_001407922.1:c.2211del
  • NM_001407923.1:c.2211del
  • NM_001407924.1:c.2211del
  • NM_001407925.1:c.2211del
  • NM_001407926.1:c.2211del
  • NM_001407927.1:c.2211del
  • NM_001407928.1:c.2211del
  • NM_001407929.1:c.2211del
  • NM_001407930.1:c.2208del
  • NM_001407931.1:c.2208del
  • NM_001407932.1:c.2208del
  • NM_001407933.1:c.2211del
  • NM_001407934.1:c.2208del
  • NM_001407935.1:c.2211del
  • NM_001407936.1:c.2208del
  • NM_001407937.1:c.2352del
  • NM_001407938.1:c.2352del
  • NM_001407939.1:c.2352del
  • NM_001407940.1:c.2349del
  • NM_001407941.1:c.2349del
  • NM_001407942.1:c.2334del
  • NM_001407943.1:c.2331del
  • NM_001407944.1:c.2334del
  • NM_001407945.1:c.2334del
  • NM_001407946.1:c.2142del
  • NM_001407947.1:c.2142del
  • NM_001407948.1:c.2142del
  • NM_001407949.1:c.2142del
  • NM_001407950.1:c.2142del
  • NM_001407951.1:c.2142del
  • NM_001407952.1:c.2142del
  • NM_001407953.1:c.2142del
  • NM_001407954.1:c.2139del
  • NM_001407955.1:c.2139del
  • NM_001407956.1:c.2139del
  • NM_001407957.1:c.2142del
  • NM_001407958.1:c.2139del
  • NM_001407959.1:c.2094del
  • NM_001407960.1:c.2094del
  • NM_001407962.1:c.2091del
  • NM_001407963.1:c.2094del
  • NM_001407964.1:c.2331del
  • NM_001407965.1:c.1971del
  • NM_001407966.1:c.1587del
  • NM_001407967.1:c.1587del
  • NM_001407968.1:c.788-917del
  • NM_001407969.1:c.788-917del
  • NM_001407970.1:c.787+1688del
  • NM_001407971.1:c.787+1688del
  • NM_001407972.1:c.784+1688del
  • NM_001407973.1:c.787+1688del
  • NM_001407974.1:c.787+1688del
  • NM_001407975.1:c.787+1688del
  • NM_001407976.1:c.787+1688del
  • NM_001407977.1:c.787+1688del
  • NM_001407978.1:c.787+1688del
  • NM_001407979.1:c.787+1688del
  • NM_001407980.1:c.787+1688del
  • NM_001407981.1:c.787+1688del
  • NM_001407982.1:c.787+1688del
  • NM_001407983.1:c.787+1688del
  • NM_001407984.1:c.784+1688del
  • NM_001407985.1:c.784+1688del
  • NM_001407986.1:c.784+1688del
  • NM_001407990.1:c.787+1688del
  • NM_001407991.1:c.784+1688del
  • NM_001407992.1:c.784+1688del
  • NM_001407993.1:c.787+1688del
  • NM_001408392.1:c.784+1688del
  • NM_001408396.1:c.784+1688del
  • NM_001408397.1:c.784+1688del
  • NM_001408398.1:c.784+1688del
  • NM_001408399.1:c.784+1688del
  • NM_001408400.1:c.784+1688del
  • NM_001408401.1:c.784+1688del
  • NM_001408402.1:c.784+1688del
  • NM_001408403.1:c.787+1688del
  • NM_001408404.1:c.787+1688del
  • NM_001408406.1:c.790+1685del
  • NM_001408407.1:c.784+1688del
  • NM_001408408.1:c.778+1688del
  • NM_001408409.1:c.709+1688del
  • NM_001408410.1:c.646+1688del
  • NM_001408411.1:c.709+1688del
  • NM_001408412.1:c.709+1688del
  • NM_001408413.1:c.706+1688del
  • NM_001408414.1:c.709+1688del
  • NM_001408415.1:c.709+1688del
  • NM_001408416.1:c.706+1688del
  • NM_001408418.1:c.671-2024del
  • NM_001408419.1:c.671-2024del
  • NM_001408420.1:c.671-2024del
  • NM_001408421.1:c.668-2024del
  • NM_001408422.1:c.671-2024del
  • NM_001408423.1:c.671-2024del
  • NM_001408424.1:c.668-2024del
  • NM_001408425.1:c.664+1688del
  • NM_001408426.1:c.664+1688del
  • NM_001408427.1:c.664+1688del
  • NM_001408428.1:c.664+1688del
  • NM_001408429.1:c.664+1688del
  • NM_001408430.1:c.664+1688del
  • NM_001408431.1:c.668-2024del
  • NM_001408432.1:c.661+1688del
  • NM_001408433.1:c.661+1688del
  • NM_001408434.1:c.661+1688del
  • NM_001408435.1:c.661+1688del
  • NM_001408436.1:c.664+1688del
  • NM_001408437.1:c.664+1688del
  • NM_001408438.1:c.664+1688del
  • NM_001408439.1:c.664+1688del
  • NM_001408440.1:c.664+1688del
  • NM_001408441.1:c.664+1688del
  • NM_001408442.1:c.664+1688del
  • NM_001408443.1:c.664+1688del
  • NM_001408444.1:c.664+1688del
  • NM_001408445.1:c.661+1688del
  • NM_001408446.1:c.661+1688del
  • NM_001408447.1:c.661+1688del
  • NM_001408448.1:c.661+1688del
  • NM_001408450.1:c.661+1688del
  • NM_001408451.1:c.652+1688del
  • NM_001408452.1:c.646+1688del
  • NM_001408453.1:c.646+1688del
  • NM_001408454.1:c.646+1688del
  • NM_001408455.1:c.646+1688del
  • NM_001408456.1:c.646+1688del
  • NM_001408457.1:c.646+1688del
  • NM_001408458.1:c.646+1688del
  • NM_001408459.1:c.646+1688del
  • NM_001408460.1:c.646+1688del
  • NM_001408461.1:c.646+1688del
  • NM_001408462.1:c.643+1688del
  • NM_001408463.1:c.643+1688del
  • NM_001408464.1:c.643+1688del
  • NM_001408465.1:c.643+1688del
  • NM_001408466.1:c.646+1688del
  • NM_001408467.1:c.646+1688del
  • NM_001408468.1:c.643+1688del
  • NM_001408469.1:c.646+1688del
  • NM_001408470.1:c.643+1688del
  • NM_001408472.1:c.787+1688del
  • NM_001408473.1:c.784+1688del
  • NM_001408474.1:c.586+1688del
  • NM_001408475.1:c.583+1688del
  • NM_001408476.1:c.586+1688del
  • NM_001408478.1:c.577+1688del
  • NM_001408479.1:c.577+1688del
  • NM_001408480.1:c.577+1688del
  • NM_001408481.1:c.577+1688del
  • NM_001408482.1:c.577+1688del
  • NM_001408483.1:c.577+1688del
  • NM_001408484.1:c.577+1688del
  • NM_001408485.1:c.577+1688del
  • NM_001408489.1:c.577+1688del
  • NM_001408490.1:c.574+1688del
  • NM_001408491.1:c.574+1688del
  • NM_001408492.1:c.577+1688del
  • NM_001408493.1:c.574+1688del
  • NM_001408494.1:c.548-2024del
  • NM_001408495.1:c.545-2024del
  • NM_001408496.1:c.523+1688del
  • NM_001408497.1:c.523+1688del
  • NM_001408498.1:c.523+1688del
  • NM_001408499.1:c.523+1688del
  • NM_001408500.1:c.523+1688del
  • NM_001408501.1:c.523+1688del
  • NM_001408502.1:c.454+1688del
  • NM_001408503.1:c.520+1688del
  • NM_001408504.1:c.520+1688del
  • NM_001408505.1:c.520+1688del
  • NM_001408506.1:c.461-2024del
  • NM_001408507.1:c.461-2024del
  • NM_001408508.1:c.451+1688del
  • NM_001408509.1:c.451+1688del
  • NM_001408510.1:c.406+1688del
  • NM_001408511.1:c.404-2024del
  • NM_001408512.1:c.283+1688del
  • NM_001408513.1:c.577+1688del
  • NM_001408514.1:c.577+1688del
  • NM_007294.4:c.2475delMANE SELECT
  • NM_007297.4:c.2334del
  • NM_007298.4:c.787+1688del
  • NM_007299.4:c.787+1688del
  • NM_007300.4:c.2475del
  • NP_001394500.1:p.Asp754fs
  • NP_001394510.1:p.Asp825fs
  • NP_001394511.1:p.Asp825fs
  • NP_001394512.1:p.Asp825fs
  • NP_001394514.1:p.Asp825fs
  • NP_001394516.1:p.Asp824fs
  • NP_001394519.1:p.Asp824fs
  • NP_001394520.1:p.Asp824fs
  • NP_001394522.1:p.Asp825fs
  • NP_001394523.1:p.Asp825fs
  • NP_001394525.1:p.Asp825fs
  • NP_001394526.1:p.Asp825fs
  • NP_001394527.1:p.Asp825fs
  • NP_001394531.1:p.Asp825fs
  • NP_001394532.1:p.Asp825fs
  • NP_001394534.1:p.Asp825fs
  • NP_001394539.1:p.Asp824fs
  • NP_001394540.1:p.Asp824fs
  • NP_001394541.1:p.Asp824fs
  • NP_001394542.1:p.Asp824fs
  • NP_001394543.1:p.Asp824fs
  • NP_001394544.1:p.Asp824fs
  • NP_001394545.1:p.Asp825fs
  • NP_001394546.1:p.Asp825fs
  • NP_001394547.1:p.Asp825fs
  • NP_001394548.1:p.Asp825fs
  • NP_001394549.1:p.Asp825fs
  • NP_001394550.1:p.Asp825fs
  • NP_001394551.1:p.Asp825fs
  • NP_001394552.1:p.Asp825fs
  • NP_001394553.1:p.Asp825fs
  • NP_001394554.1:p.Asp825fs
  • NP_001394555.1:p.Asp825fs
  • NP_001394556.1:p.Asp824fs
  • NP_001394557.1:p.Asp824fs
  • NP_001394558.1:p.Asp824fs
  • NP_001394559.1:p.Asp824fs
  • NP_001394560.1:p.Asp824fs
  • NP_001394561.1:p.Asp824fs
  • NP_001394562.1:p.Asp824fs
  • NP_001394563.1:p.Asp824fs
  • NP_001394564.1:p.Asp824fs
  • NP_001394565.1:p.Asp824fs
  • NP_001394566.1:p.Asp824fs
  • NP_001394567.1:p.Asp824fs
  • NP_001394568.1:p.Asp825fs
  • NP_001394569.1:p.Asp825fs
  • NP_001394570.1:p.Asp825fs
  • NP_001394571.1:p.Asp825fs
  • NP_001394573.1:p.Asp824fs
  • NP_001394574.1:p.Asp824fs
  • NP_001394575.1:p.Asp822fs
  • NP_001394576.1:p.Asp822fs
  • NP_001394577.1:p.Asp784fs
  • NP_001394578.1:p.Asp783fs
  • NP_001394581.1:p.Asp825fs
  • NP_001394582.1:p.Asp799fs
  • NP_001394583.1:p.Asp799fs
  • NP_001394584.1:p.Asp799fs
  • NP_001394585.1:p.Asp799fs
  • NP_001394586.1:p.Asp799fs
  • NP_001394587.1:p.Asp799fs
  • NP_001394588.1:p.Asp798fs
  • NP_001394589.1:p.Asp798fs
  • NP_001394590.1:p.Asp798fs
  • NP_001394591.1:p.Asp798fs
  • NP_001394592.1:p.Asp799fs
  • NP_001394593.1:p.Asp784fs
  • NP_001394594.1:p.Asp784fs
  • NP_001394595.1:p.Asp784fs
  • NP_001394596.1:p.Asp784fs
  • NP_001394597.1:p.Asp784fs
  • NP_001394598.1:p.Asp784fs
  • NP_001394599.1:p.Asp783fs
  • NP_001394600.1:p.Asp783fs
  • NP_001394601.1:p.Asp783fs
  • NP_001394602.1:p.Asp783fs
  • NP_001394603.1:p.Asp784fs
  • NP_001394604.1:p.Asp784fs
  • NP_001394605.1:p.Asp784fs
  • NP_001394606.1:p.Asp784fs
  • NP_001394607.1:p.Asp784fs
  • NP_001394608.1:p.Asp784fs
  • NP_001394609.1:p.Asp784fs
  • NP_001394610.1:p.Asp784fs
  • NP_001394611.1:p.Asp784fs
  • NP_001394612.1:p.Asp784fs
  • NP_001394613.1:p.Asp825fs
  • NP_001394614.1:p.Asp783fs
  • NP_001394615.1:p.Asp783fs
  • NP_001394616.1:p.Asp783fs
  • NP_001394617.1:p.Asp783fs
  • NP_001394618.1:p.Asp783fs
  • NP_001394619.1:p.Asp783fs
  • NP_001394620.1:p.Asp783fs
  • NP_001394621.1:p.Asp778fs
  • NP_001394623.1:p.Asp778fs
  • NP_001394624.1:p.Asp778fs
  • NP_001394625.1:p.Asp778fs
  • NP_001394626.1:p.Asp778fs
  • NP_001394627.1:p.Asp778fs
  • NP_001394653.1:p.Asp778fs
  • NP_001394654.1:p.Asp778fs
  • NP_001394655.1:p.Asp778fs
  • NP_001394656.1:p.Asp778fs
  • NP_001394657.1:p.Asp778fs
  • NP_001394658.1:p.Asp778fs
  • NP_001394659.1:p.Asp778fs
  • NP_001394660.1:p.Asp778fs
  • NP_001394661.1:p.Asp778fs
  • NP_001394662.1:p.Asp778fs
  • NP_001394663.1:p.Asp778fs
  • NP_001394664.1:p.Asp778fs
  • NP_001394665.1:p.Asp778fs
  • NP_001394666.1:p.Asp778fs
  • NP_001394667.1:p.Asp778fs
  • NP_001394668.1:p.Asp778fs
  • NP_001394669.1:p.Asp777fs
  • NP_001394670.1:p.Asp777fs
  • NP_001394671.1:p.Asp777fs
  • NP_001394672.1:p.Asp777fs
  • NP_001394673.1:p.Asp777fs
  • NP_001394674.1:p.Asp777fs
  • NP_001394675.1:p.Asp777fs
  • NP_001394676.1:p.Asp777fs
  • NP_001394677.1:p.Asp777fs
  • NP_001394678.1:p.Asp777fs
  • NP_001394679.1:p.Asp778fs
  • NP_001394680.1:p.Asp778fs
  • NP_001394681.1:p.Asp778fs
  • NP_001394767.1:p.Asp777fs
  • NP_001394768.1:p.Asp777fs
  • NP_001394770.1:p.Asp777fs
  • NP_001394771.1:p.Asp777fs
  • NP_001394772.1:p.Asp777fs
  • NP_001394773.1:p.Asp777fs
  • NP_001394774.1:p.Asp777fs
  • NP_001394775.1:p.Asp777fs
  • NP_001394776.1:p.Asp777fs
  • NP_001394777.1:p.Asp777fs
  • NP_001394778.1:p.Asp777fs
  • NP_001394779.1:p.Asp778fs
  • NP_001394780.1:p.Asp778fs
  • NP_001394781.1:p.Asp778fs
  • NP_001394782.1:p.Asp754fs
  • NP_001394783.1:p.Asp825fs
  • NP_001394787.1:p.Asp825fs
  • NP_001394788.1:p.Asp825fs
  • NP_001394789.1:p.Asp824fs
  • NP_001394790.1:p.Asp824fs
  • NP_001394791.1:p.Asp758fs
  • NP_001394792.1:p.Asp784fs
  • NP_001394803.1:p.Asp757fs
  • NP_001394804.1:p.Asp757fs
  • NP_001394808.1:p.Asp755fs
  • NP_001394810.1:p.Asp755fs
  • NP_001394811.1:p.Asp755fs
  • NP_001394813.1:p.Asp755fs
  • NP_001394814.1:p.Asp755fs
  • NP_001394815.1:p.Asp755fs
  • NP_001394816.1:p.Asp755fs
  • NP_001394818.1:p.Asp755fs
  • NP_001394823.1:p.Asp754fs
  • NP_001394824.1:p.Asp754fs
  • NP_001394825.1:p.Asp754fs
  • NP_001394826.1:p.Asp754fs
  • NP_001394827.1:p.Asp754fs
  • NP_001394828.1:p.Asp754fs
  • NP_001394829.1:p.Asp755fs
  • NP_001394831.1:p.Asp755fs
  • NP_001394833.1:p.Asp755fs
  • NP_001394835.1:p.Asp755fs
  • NP_001394836.1:p.Asp755fs
  • NP_001394837.1:p.Asp755fs
  • NP_001394838.1:p.Asp755fs
  • NP_001394839.1:p.Asp755fs
  • NP_001394844.1:p.Asp754fs
  • NP_001394845.1:p.Asp754fs
  • NP_001394846.1:p.Asp754fs
  • NP_001394847.1:p.Asp754fs
  • NP_001394848.1:p.Asp784fs
  • NP_001394849.1:p.Asp737fs
  • NP_001394850.1:p.Asp737fs
  • NP_001394851.1:p.Asp737fs
  • NP_001394852.1:p.Asp737fs
  • NP_001394853.1:p.Asp737fs
  • NP_001394854.1:p.Asp737fs
  • NP_001394855.1:p.Asp737fs
  • NP_001394856.1:p.Asp737fs
  • NP_001394857.1:p.Asp737fs
  • NP_001394858.1:p.Asp737fs
  • NP_001394859.1:p.Asp736fs
  • NP_001394860.1:p.Asp736fs
  • NP_001394861.1:p.Asp736fs
  • NP_001394862.1:p.Asp737fs
  • NP_001394863.1:p.Asp736fs
  • NP_001394864.1:p.Asp737fs
  • NP_001394865.1:p.Asp736fs
  • NP_001394866.1:p.Asp784fs
  • NP_001394867.1:p.Asp784fs
  • NP_001394868.1:p.Asp784fs
  • NP_001394869.1:p.Asp783fs
  • NP_001394870.1:p.Asp783fs
  • NP_001394871.1:p.Asp778fs
  • NP_001394872.1:p.Asp777fs
  • NP_001394873.1:p.Asp778fs
  • NP_001394874.1:p.Asp778fs
  • NP_001394875.1:p.Asp714fs
  • NP_001394876.1:p.Asp714fs
  • NP_001394877.1:p.Asp714fs
  • NP_001394878.1:p.Asp714fs
  • NP_001394879.1:p.Asp714fs
  • NP_001394880.1:p.Asp714fs
  • NP_001394881.1:p.Asp714fs
  • NP_001394882.1:p.Asp714fs
  • NP_001394883.1:p.Asp713fs
  • NP_001394884.1:p.Asp713fs
  • NP_001394885.1:p.Asp713fs
  • NP_001394886.1:p.Asp714fs
  • NP_001394887.1:p.Asp713fs
  • NP_001394888.1:p.Asp698fs
  • NP_001394889.1:p.Asp698fs
  • NP_001394891.1:p.Asp697fs
  • NP_001394892.1:p.Asp698fs
  • NP_001394893.1:p.Asp777fs
  • NP_001394894.1:p.Asp657fs
  • NP_001394895.1:p.Asp529fs
  • NP_001394896.1:p.Asp529fs
  • NP_009225.1:p.Asp825Glufs
  • NP_009225.1:p.Asp825fs
  • NP_009228.2:p.Asp778fs
  • NP_009231.2:p.Asp825fs
  • LRG_292t1:c.2475del
  • LRG_292:g.124928del
  • LRG_292p1:p.Asp825Glufs
  • NC_000017.10:g.41245073del
  • NC_000017.10:g.41245073delG
  • NC_000017.11:g.43093056delG
  • NM_007294.3:c.2475delC
  • NM_007294.3:c.2475delC
  • NM_007294.4:c.2475delC
  • NM_007300.3:c.2475delC
  • NR_027676.1:n.2611delC
  • U14680.1:n.2594delC
  • p.Asp825Glufs*21
  • p.D825EFS*21
Nucleotide change:
2594delC
Protein change:
D529fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 2594&base_change=del C; dbSNP: rs80357970
NCBI 1000 Genomes Browser:
rs80357970
Molecular consequence:
  • NM_001407571.1:c.2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.2472del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.2472del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.2472del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.2472del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.2472del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.2472del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.2472del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.2472del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.2472del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.2472del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.2472del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.2472del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.2472del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.2472del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.2472del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.2472del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.2472del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.2472del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.2472del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.2472del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.2472del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.2472del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.2472del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.2466del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.2466del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.2352del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.2349del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.2397del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.2397del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.2397del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.2397del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.2397del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.2397del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.2394del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.2394del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.2394del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.2394del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.2397del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.2352del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.2352del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.2352del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.2352del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.2352del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.2352del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.2349del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.2349del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.2349del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.2349del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.2352del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.2352del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.2352del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.2352del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.2352del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.2352del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.2352del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.2352del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.2352del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.2352del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.2349del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.2349del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.2349del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.2349del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.2349del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.2349del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.2349del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.2331del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.2331del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.2331del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.2331del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.2331del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.2331del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.2331del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.2331del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.2331del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.2331del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.2331del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.2331del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.2331del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.2331del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.2331del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.2331del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.2331del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.2331del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.2331del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.2331del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.2331del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.2472del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.2472del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.2274del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.2352del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.2271del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.2271del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.2265del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.2262del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.2352del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.2211del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.2208del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.2352del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.2352del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.2352del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.2349del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.2349del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.2331del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.2142del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.2142del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.2142del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.2142del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.2142del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.2142del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.2142del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.2142del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.2139del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.2139del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.2139del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.2142del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.2139del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.2094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.2094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.2091del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.2094del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.2331del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.1971del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.1587del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.1587del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.2334del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.788-917del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-917del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1685del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-2024del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-2024del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-2024del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-2024del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-2024del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-2024del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-2024del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-2024del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2024del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2024del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-2024del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-2024del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2024del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1688del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1688del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001157346ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Pathogenic
(Mar 25, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001157346.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The BRCA1 c.2475delC; p.Asp825fs variant (rs80357970), also known as 2594delC, has been reported in multiple unrelated individuals diagnosed with hereditary breast and ovarian cancer syndrome (Cunningham 2014, Pennington 2013, Schneegans 2012). This variant is classified as pathogenic by multiple laboratories in ClinVar (Variation ID: 37472). It is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. This variant causes a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. REFERENCES Cunningham J et al. Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status. Sci Rep. 2014; 4:4026. Pennington K et al. BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma. Cancer. 2013; 119(2):332-8. Schneegans S et al. Validation of three BRCA1/2 mutation-carrier probability models Myriad, BRCAPRO and BOADICEA in a population-based series of 183 German families. Fam Cancer. 2012; 11(2):181-8.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024