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

Germline classification:: Pathogenic (8 submissions)
Last evaluated:: Jul 31, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000236906.34

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]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000292513	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jun 17, 2022)	germline	clinical testing	Citation Link,
SCV000296289	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Feb 21, 2023)	unknown	clinical testing	PubMed (14) [See all records that cite these PMIDs] 18465347, 8595428, 20104584, 31263571, 33471991, 33758026, 34657373, 32782288, 22516946, 22811390, 24504028, 29433453, 26467025, 26295337
SCV001447426	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 23, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001449778	Clinical Genetics and Genomics, Karolinska University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 25, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002551018	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 31, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003811755	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 4, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005199736	Clinical Genetics Laboratory, Skane University Hospital Lund	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 4, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005413233	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 23, 2024)	germline	clinical testing	PubMed (12) [See all records that cite these PMIDs] 11391658, 18465347, 22516946, 23199084, 24504028, 29053726, 29339979, 29433453, 33758026, 34981296, 8595428, 25741868

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	18	not provided	not provided	1	not provided	clinical testing
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A, Haile RW, Malone KE, Capanu M, Diep A, Törngren T, Teraoka S, Begg CB, Thomas DC, Concannon P, Mellemkjaer L, Bernstein L, Tellhed L, Xue S, Olson ER, Liang X, Dolle J, Børresen-Dale AL, Bernstein JL.

Hum Mutat. 2010 Mar;31(3):E1200-40. doi: 10.1002/humu.21202.

PubMed [citation]

PMID:: 20104584
PMCID:: PMC2928257

High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer.

Bertelsen B, Tuxen IV, Yde CW, Gabrielaite M, Torp MH, Kinalis S, Oestrup O, Rohrberg K, Spangaard I, Santoni-Rugiu E, Wadt K, Mau-Sorensen M, Lassen U, Nielsen FC.

NPJ Genom Med. 2019;4:13. doi: 10.1038/s41525-019-0087-6.

PubMed [citation]

PMID:: 31263571
PMCID:: PMC6588611

See all PubMed Citations (20)

Details of each submission

From GeneDx, SCV000292513.14

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

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 considered a common founder variant in the Scandinavian population (Plummer 1995, Janaviius 2010, Leongamornlert 2012, Schneegans 2012, Pennington 2013, Cunningham 2014, Maxwell 2017); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Not observed at significant frequency in large population cohorts (gnomAD); Also known as 2594delC; This variant is associated with the following publications: (PMID: 22811390, 22516946, 17694537, 8595428, 23747895, 26833046, 28476184, 29625052, 26689913, 24504028, 22160602, 23199084, 24728189, 23704984, 17688236, 25452441, 18465347, 20104584, 28049106, 28087643, 27798111, 27375368, 28776284, 28831036, 29339979, 29433453, 30720243, 30322717, 32050665, 31263571, 31883735, 11391658, 34399810, 32719484, 33087929)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296289.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (14)

Description

This variant alters the translational reading frame of the BRCA1 mRNA and causes the premature termination of BRCA1 protein synthesis. In the published literature, this variant has been reported in individuals with breast and/or ovarian cancer (PMIDs: 33758026 (2022), 34657373 (2022), 31263571 (2019), 24504028 (2014), 22811390 (2013), 20104584 (2010), 18465347 (2008), 8595428 (1995)), pancreatic cancer (PMID: 29433453 (2018)), renal cancer (PMID: 32782288 (2020)), and prostate cancer (PMID: 22516946 (2012)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001447426.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics and Genomics, Karolinska University Hospital, SCV001449778.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	18	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		18	not provided	not provided	not provided

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV002551018.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV003811755.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics Laboratory, Skane University Hospital Lund, SCV005199736.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV005413233.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (12)

Description

PM5_strong, PVS1

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Nov 24, 2024

Relating variation to medicine