NM_007294.4(BRCA1):c.2193dup (p.Glu732fs) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 10, 2023
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV003288412.2
Allele description [Variation Report for NM_007294.4(BRCA1):c.2193dup (p.Glu732fs)]
NM_007294.4(BRCA1):c.2193dup (p.Glu732fs)
- Gene:
- BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
- Variant type:
- Duplication
- Cytogenetic location:
- 17q21.31
- Genomic location:
- Preferred name:
- NM_007294.4(BRCA1):c.2193dup (p.Glu732fs)
- HGVS:
- NC_000017.11:g.43093342dup
- NG_005905.2:g.124646dup
- NM_001407571.1:c.1980dup
- NM_001407581.1:c.2193dup
- NM_001407582.1:c.2193dup
- NM_001407583.1:c.2193dup
- NM_001407585.1:c.2193dup
- NM_001407587.1:c.2190dup
- NM_001407590.1:c.2190dup
- NM_001407591.1:c.2190dup
- NM_001407593.1:c.2193dup
- NM_001407594.1:c.2193dup
- NM_001407596.1:c.2193dup
- NM_001407597.1:c.2193dup
- NM_001407598.1:c.2193dup
- NM_001407602.1:c.2193dup
- NM_001407603.1:c.2193dup
- NM_001407605.1:c.2193dup
- NM_001407610.1:c.2190dup
- NM_001407611.1:c.2190dup
- NM_001407612.1:c.2190dup
- NM_001407613.1:c.2190dup
- NM_001407614.1:c.2190dup
- NM_001407615.1:c.2190dup
- NM_001407616.1:c.2193dup
- NM_001407617.1:c.2193dup
- NM_001407618.1:c.2193dup
- NM_001407619.1:c.2193dup
- NM_001407620.1:c.2193dup
- NM_001407621.1:c.2193dup
- NM_001407622.1:c.2193dup
- NM_001407623.1:c.2193dup
- NM_001407624.1:c.2193dup
- NM_001407625.1:c.2193dup
- NM_001407626.1:c.2193dup
- NM_001407627.1:c.2190dup
- NM_001407628.1:c.2190dup
- NM_001407629.1:c.2190dup
- NM_001407630.1:c.2190dup
- NM_001407631.1:c.2190dup
- NM_001407632.1:c.2190dup
- NM_001407633.1:c.2190dup
- NM_001407634.1:c.2190dup
- NM_001407635.1:c.2190dup
- NM_001407636.1:c.2190dup
- NM_001407637.1:c.2190dup
- NM_001407638.1:c.2190dup
- NM_001407639.1:c.2193dup
- NM_001407640.1:c.2193dup
- NM_001407641.1:c.2193dup
- NM_001407642.1:c.2193dup
- NM_001407644.1:c.2190dup
- NM_001407645.1:c.2190dup
- NM_001407646.1:c.2184dup
- NM_001407647.1:c.2184dup
- NM_001407648.1:c.2070dup
- NM_001407649.1:c.2067dup
- NM_001407652.1:c.2193dup
- NM_001407653.1:c.2115dup
- NM_001407654.1:c.2115dup
- NM_001407655.1:c.2115dup
- NM_001407656.1:c.2115dup
- NM_001407657.1:c.2115dup
- NM_001407658.1:c.2115dup
- NM_001407659.1:c.2112dup
- NM_001407660.1:c.2112dup
- NM_001407661.1:c.2112dup
- NM_001407662.1:c.2112dup
- NM_001407663.1:c.2115dup
- NM_001407664.1:c.2070dup
- NM_001407665.1:c.2070dup
- NM_001407666.1:c.2070dup
- NM_001407667.1:c.2070dup
- NM_001407668.1:c.2070dup
- NM_001407669.1:c.2070dup
- NM_001407670.1:c.2067dup
- NM_001407671.1:c.2067dup
- NM_001407672.1:c.2067dup
- NM_001407673.1:c.2067dup
- NM_001407674.1:c.2070dup
- NM_001407675.1:c.2070dup
- NM_001407676.1:c.2070dup
- NM_001407677.1:c.2070dup
- NM_001407678.1:c.2070dup
- NM_001407679.1:c.2070dup
- NM_001407680.1:c.2070dup
- NM_001407681.1:c.2070dup
- NM_001407682.1:c.2070dup
- NM_001407683.1:c.2070dup
- NM_001407684.1:c.2193dup
- NM_001407685.1:c.2067dup
- NM_001407686.1:c.2067dup
- NM_001407687.1:c.2067dup
- NM_001407688.1:c.2067dup
- NM_001407689.1:c.2067dup
- NM_001407690.1:c.2067dup
- NM_001407691.1:c.2067dup
- NM_001407692.1:c.2052dup
- NM_001407694.1:c.2052dup
- NM_001407695.1:c.2052dup
- NM_001407696.1:c.2052dup
- NM_001407697.1:c.2052dup
- NM_001407698.1:c.2052dup
- NM_001407724.1:c.2052dup
- NM_001407725.1:c.2052dup
- NM_001407726.1:c.2052dup
- NM_001407727.1:c.2052dup
- NM_001407728.1:c.2052dup
- NM_001407729.1:c.2052dup
- NM_001407730.1:c.2052dup
- NM_001407731.1:c.2052dup
- NM_001407732.1:c.2052dup
- NM_001407733.1:c.2052dup
- NM_001407734.1:c.2052dup
- NM_001407735.1:c.2052dup
- NM_001407736.1:c.2052dup
- NM_001407737.1:c.2052dup
- NM_001407738.1:c.2052dup
- NM_001407739.1:c.2052dup
- NM_001407740.1:c.2049dup
- NM_001407741.1:c.2049dup
- NM_001407742.1:c.2049dup
- NM_001407743.1:c.2049dup
- NM_001407744.1:c.2049dup
- NM_001407745.1:c.2049dup
- NM_001407746.1:c.2049dup
- NM_001407747.1:c.2049dup
- NM_001407748.1:c.2049dup
- NM_001407749.1:c.2049dup
- NM_001407750.1:c.2052dup
- NM_001407751.1:c.2052dup
- NM_001407752.1:c.2052dup
- NM_001407838.1:c.2049dup
- NM_001407839.1:c.2049dup
- NM_001407841.1:c.2049dup
- NM_001407842.1:c.2049dup
- NM_001407843.1:c.2049dup
- NM_001407844.1:c.2049dup
- NM_001407845.1:c.2049dup
- NM_001407846.1:c.2049dup
- NM_001407847.1:c.2049dup
- NM_001407848.1:c.2049dup
- NM_001407849.1:c.2049dup
- NM_001407850.1:c.2052dup
- NM_001407851.1:c.2052dup
- NM_001407852.1:c.2052dup
- NM_001407853.1:c.1980dup
- NM_001407854.1:c.2193dup
- NM_001407858.1:c.2193dup
- NM_001407859.1:c.2193dup
- NM_001407860.1:c.2190dup
- NM_001407861.1:c.2190dup
- NM_001407862.1:c.1992dup
- NM_001407863.1:c.2070dup
- NM_001407874.1:c.1989dup
- NM_001407875.1:c.1989dup
- NM_001407879.1:c.1983dup
- NM_001407881.1:c.1983dup
- NM_001407882.1:c.1983dup
- NM_001407884.1:c.1983dup
- NM_001407885.1:c.1983dup
- NM_001407886.1:c.1983dup
- NM_001407887.1:c.1983dup
- NM_001407889.1:c.1983dup
- NM_001407894.1:c.1980dup
- NM_001407895.1:c.1980dup
- NM_001407896.1:c.1980dup
- NM_001407897.1:c.1980dup
- NM_001407898.1:c.1980dup
- NM_001407899.1:c.1980dup
- NM_001407900.1:c.1983dup
- NM_001407902.1:c.1983dup
- NM_001407904.1:c.1983dup
- NM_001407906.1:c.1983dup
- NM_001407907.1:c.1983dup
- NM_001407908.1:c.1983dup
- NM_001407909.1:c.1983dup
- NM_001407910.1:c.1983dup
- NM_001407915.1:c.1980dup
- NM_001407916.1:c.1980dup
- NM_001407917.1:c.1980dup
- NM_001407918.1:c.1980dup
- NM_001407919.1:c.2070dup
- NM_001407920.1:c.1929dup
- NM_001407921.1:c.1929dup
- NM_001407922.1:c.1929dup
- NM_001407923.1:c.1929dup
- NM_001407924.1:c.1929dup
- NM_001407925.1:c.1929dup
- NM_001407926.1:c.1929dup
- NM_001407927.1:c.1929dup
- NM_001407928.1:c.1929dup
- NM_001407929.1:c.1929dup
- NM_001407930.1:c.1926dup
- NM_001407931.1:c.1926dup
- NM_001407932.1:c.1926dup
- NM_001407933.1:c.1929dup
- NM_001407934.1:c.1926dup
- NM_001407935.1:c.1929dup
- NM_001407936.1:c.1926dup
- NM_001407937.1:c.2070dup
- NM_001407938.1:c.2070dup
- NM_001407939.1:c.2070dup
- NM_001407940.1:c.2067dup
- NM_001407941.1:c.2067dup
- NM_001407942.1:c.2052dup
- NM_001407943.1:c.2049dup
- NM_001407944.1:c.2052dup
- NM_001407945.1:c.2052dup
- NM_001407946.1:c.1860dup
- NM_001407947.1:c.1860dup
- NM_001407948.1:c.1860dup
- NM_001407949.1:c.1860dup
- NM_001407950.1:c.1860dup
- NM_001407951.1:c.1860dup
- NM_001407952.1:c.1860dup
- NM_001407953.1:c.1860dup
- NM_001407954.1:c.1857dup
- NM_001407955.1:c.1857dup
- NM_001407956.1:c.1857dup
- NM_001407957.1:c.1860dup
- NM_001407958.1:c.1857dup
- NM_001407959.1:c.1812dup
- NM_001407960.1:c.1812dup
- NM_001407962.1:c.1809dup
- NM_001407963.1:c.1812dup
- NM_001407964.1:c.2049dup
- NM_001407965.1:c.1689dup
- NM_001407966.1:c.1305dup
- NM_001407967.1:c.1305dup
- NM_001407968.1:c.788-1199dup
- NM_001407969.1:c.788-1199dup
- NM_001407970.1:c.787+1406dup
- NM_001407971.1:c.787+1406dup
- NM_001407972.1:c.784+1406dup
- NM_001407973.1:c.787+1406dup
- NM_001407974.1:c.787+1406dup
- NM_001407975.1:c.787+1406dup
- NM_001407976.1:c.787+1406dup
- NM_001407977.1:c.787+1406dup
- NM_001407978.1:c.787+1406dup
- NM_001407979.1:c.787+1406dup
- NM_001407980.1:c.787+1406dup
- NM_001407981.1:c.787+1406dup
- NM_001407982.1:c.787+1406dup
- NM_001407983.1:c.787+1406dup
- NM_001407984.1:c.784+1406dup
- NM_001407985.1:c.784+1406dup
- NM_001407986.1:c.784+1406dup
- NM_001407990.1:c.787+1406dup
- NM_001407991.1:c.784+1406dup
- NM_001407992.1:c.784+1406dup
- NM_001407993.1:c.787+1406dup
- NM_001408392.1:c.784+1406dup
- NM_001408396.1:c.784+1406dup
- NM_001408397.1:c.784+1406dup
- NM_001408398.1:c.784+1406dup
- NM_001408399.1:c.784+1406dup
- NM_001408400.1:c.784+1406dup
- NM_001408401.1:c.784+1406dup
- NM_001408402.1:c.784+1406dup
- NM_001408403.1:c.787+1406dup
- NM_001408404.1:c.787+1406dup
- NM_001408406.1:c.790+1403dup
- NM_001408407.1:c.784+1406dup
- NM_001408408.1:c.778+1406dup
- NM_001408409.1:c.709+1406dup
- NM_001408410.1:c.646+1406dup
- NM_001408411.1:c.709+1406dup
- NM_001408412.1:c.709+1406dup
- NM_001408413.1:c.706+1406dup
- NM_001408414.1:c.709+1406dup
- NM_001408415.1:c.709+1406dup
- NM_001408416.1:c.706+1406dup
- NM_001408418.1:c.671-2306dup
- NM_001408419.1:c.671-2306dup
- NM_001408420.1:c.671-2306dup
- NM_001408421.1:c.668-2306dup
- NM_001408422.1:c.671-2306dup
- NM_001408423.1:c.671-2306dup
- NM_001408424.1:c.668-2306dup
- NM_001408425.1:c.664+1406dup
- NM_001408426.1:c.664+1406dup
- NM_001408427.1:c.664+1406dup
- NM_001408428.1:c.664+1406dup
- NM_001408429.1:c.664+1406dup
- NM_001408430.1:c.664+1406dup
- NM_001408431.1:c.668-2306dup
- NM_001408432.1:c.661+1406dup
- NM_001408433.1:c.661+1406dup
- NM_001408434.1:c.661+1406dup
- NM_001408435.1:c.661+1406dup
- NM_001408436.1:c.664+1406dup
- NM_001408437.1:c.664+1406dup
- NM_001408438.1:c.664+1406dup
- NM_001408439.1:c.664+1406dup
- NM_001408440.1:c.664+1406dup
- NM_001408441.1:c.664+1406dup
- NM_001408442.1:c.664+1406dup
- NM_001408443.1:c.664+1406dup
- NM_001408444.1:c.664+1406dup
- NM_001408445.1:c.661+1406dup
- NM_001408446.1:c.661+1406dup
- NM_001408447.1:c.661+1406dup
- NM_001408448.1:c.661+1406dup
- NM_001408450.1:c.661+1406dup
- NM_001408451.1:c.652+1406dup
- NM_001408452.1:c.646+1406dup
- NM_001408453.1:c.646+1406dup
- NM_001408454.1:c.646+1406dup
- NM_001408455.1:c.646+1406dup
- NM_001408456.1:c.646+1406dup
- NM_001408457.1:c.646+1406dup
- NM_001408458.1:c.646+1406dup
- NM_001408459.1:c.646+1406dup
- NM_001408460.1:c.646+1406dup
- NM_001408461.1:c.646+1406dup
- NM_001408462.1:c.643+1406dup
- NM_001408463.1:c.643+1406dup
- NM_001408464.1:c.643+1406dup
- NM_001408465.1:c.643+1406dup
- NM_001408466.1:c.646+1406dup
- NM_001408467.1:c.646+1406dup
- NM_001408468.1:c.643+1406dup
- NM_001408469.1:c.646+1406dup
- NM_001408470.1:c.643+1406dup
- NM_001408472.1:c.787+1406dup
- NM_001408473.1:c.784+1406dup
- NM_001408474.1:c.586+1406dup
- NM_001408475.1:c.583+1406dup
- NM_001408476.1:c.586+1406dup
- NM_001408478.1:c.577+1406dup
- NM_001408479.1:c.577+1406dup
- NM_001408480.1:c.577+1406dup
- NM_001408481.1:c.577+1406dup
- NM_001408482.1:c.577+1406dup
- NM_001408483.1:c.577+1406dup
- NM_001408484.1:c.577+1406dup
- NM_001408485.1:c.577+1406dup
- NM_001408489.1:c.577+1406dup
- NM_001408490.1:c.574+1406dup
- NM_001408491.1:c.574+1406dup
- NM_001408492.1:c.577+1406dup
- NM_001408493.1:c.574+1406dup
- NM_001408494.1:c.548-2306dup
- NM_001408495.1:c.545-2306dup
- NM_001408496.1:c.523+1406dup
- NM_001408497.1:c.523+1406dup
- NM_001408498.1:c.523+1406dup
- NM_001408499.1:c.523+1406dup
- NM_001408500.1:c.523+1406dup
- NM_001408501.1:c.523+1406dup
- NM_001408502.1:c.454+1406dup
- NM_001408503.1:c.520+1406dup
- NM_001408504.1:c.520+1406dup
- NM_001408505.1:c.520+1406dup
- NM_001408506.1:c.461-2306dup
- NM_001408507.1:c.461-2306dup
- NM_001408508.1:c.451+1406dup
- NM_001408509.1:c.451+1406dup
- NM_001408510.1:c.406+1406dup
- NM_001408511.1:c.404-2306dup
- NM_001408512.1:c.283+1406dup
- NM_001408513.1:c.577+1406dup
- NM_001408514.1:c.577+1406dup
- NM_007294.4:c.2193dupMANE SELECT
- NM_007297.4:c.2052dup
- NM_007298.4:c.787+1406dup
- NM_007299.4:c.787+1406dup
- NM_007300.4:c.2193dup
- NP_001394500.1:p.Glu661fs
- NP_001394510.1:p.Glu732fs
- NP_001394511.1:p.Glu732fs
- NP_001394512.1:p.Glu732fs
- NP_001394514.1:p.Glu732fs
- NP_001394516.1:p.Glu731fs
- NP_001394519.1:p.Glu731fs
- NP_001394520.1:p.Glu731fs
- NP_001394522.1:p.Glu732fs
- NP_001394523.1:p.Glu732fs
- NP_001394525.1:p.Glu732fs
- NP_001394526.1:p.Glu732fs
- NP_001394527.1:p.Glu732fs
- NP_001394531.1:p.Glu732fs
- NP_001394532.1:p.Glu732fs
- NP_001394534.1:p.Glu732fs
- NP_001394539.1:p.Glu731fs
- NP_001394540.1:p.Glu731fs
- NP_001394541.1:p.Glu731fs
- NP_001394542.1:p.Glu731fs
- NP_001394543.1:p.Glu731fs
- NP_001394544.1:p.Glu731fs
- NP_001394545.1:p.Glu732fs
- NP_001394546.1:p.Glu732fs
- NP_001394547.1:p.Glu732fs
- NP_001394548.1:p.Glu732fs
- NP_001394549.1:p.Glu732fs
- NP_001394550.1:p.Glu732fs
- NP_001394551.1:p.Glu732fs
- NP_001394552.1:p.Glu732fs
- NP_001394553.1:p.Glu732fs
- NP_001394554.1:p.Glu732fs
- NP_001394555.1:p.Glu732fs
- NP_001394556.1:p.Glu731fs
- NP_001394557.1:p.Glu731fs
- NP_001394558.1:p.Glu731fs
- NP_001394559.1:p.Glu731fs
- NP_001394560.1:p.Glu731fs
- NP_001394561.1:p.Glu731fs
- NP_001394562.1:p.Glu731fs
- NP_001394563.1:p.Glu731fs
- NP_001394564.1:p.Glu731fs
- NP_001394565.1:p.Glu731fs
- NP_001394566.1:p.Glu731fs
- NP_001394567.1:p.Glu731fs
- NP_001394568.1:p.Glu732fs
- NP_001394569.1:p.Glu732fs
- NP_001394570.1:p.Glu732fs
- NP_001394571.1:p.Glu732fs
- NP_001394573.1:p.Glu731fs
- NP_001394574.1:p.Glu731fs
- NP_001394575.1:p.Glu729fs
- NP_001394576.1:p.Glu729fs
- NP_001394577.1:p.Glu691fs
- NP_001394578.1:p.Glu690fs
- NP_001394581.1:p.Glu732fs
- NP_001394582.1:p.Glu706fs
- NP_001394583.1:p.Glu706fs
- NP_001394584.1:p.Glu706fs
- NP_001394585.1:p.Glu706fs
- NP_001394586.1:p.Glu706fs
- NP_001394587.1:p.Glu706fs
- NP_001394588.1:p.Glu705fs
- NP_001394589.1:p.Glu705fs
- NP_001394590.1:p.Glu705fs
- NP_001394591.1:p.Glu705fs
- NP_001394592.1:p.Glu706fs
- NP_001394593.1:p.Glu691fs
- NP_001394594.1:p.Glu691fs
- NP_001394595.1:p.Glu691fs
- NP_001394596.1:p.Glu691fs
- NP_001394597.1:p.Glu691fs
- NP_001394598.1:p.Glu691fs
- NP_001394599.1:p.Glu690fs
- NP_001394600.1:p.Glu690fs
- NP_001394601.1:p.Glu690fs
- NP_001394602.1:p.Glu690fs
- NP_001394603.1:p.Glu691fs
- NP_001394604.1:p.Glu691fs
- NP_001394605.1:p.Glu691fs
- NP_001394606.1:p.Glu691fs
- NP_001394607.1:p.Glu691fs
- NP_001394608.1:p.Glu691fs
- NP_001394609.1:p.Glu691fs
- NP_001394610.1:p.Glu691fs
- NP_001394611.1:p.Glu691fs
- NP_001394612.1:p.Glu691fs
- NP_001394613.1:p.Glu732fs
- NP_001394614.1:p.Glu690fs
- NP_001394615.1:p.Glu690fs
- NP_001394616.1:p.Glu690fs
- NP_001394617.1:p.Glu690fs
- NP_001394618.1:p.Glu690fs
- NP_001394619.1:p.Glu690fs
- NP_001394620.1:p.Glu690fs
- NP_001394621.1:p.Glu685fs
- NP_001394623.1:p.Glu685fs
- NP_001394624.1:p.Glu685fs
- NP_001394625.1:p.Glu685fs
- NP_001394626.1:p.Glu685fs
- NP_001394627.1:p.Glu685fs
- NP_001394653.1:p.Glu685fs
- NP_001394654.1:p.Glu685fs
- NP_001394655.1:p.Glu685fs
- NP_001394656.1:p.Glu685fs
- NP_001394657.1:p.Glu685fs
- NP_001394658.1:p.Glu685fs
- NP_001394659.1:p.Glu685fs
- NP_001394660.1:p.Glu685fs
- NP_001394661.1:p.Glu685fs
- NP_001394662.1:p.Glu685fs
- NP_001394663.1:p.Glu685fs
- NP_001394664.1:p.Glu685fs
- NP_001394665.1:p.Glu685fs
- NP_001394666.1:p.Glu685fs
- NP_001394667.1:p.Glu685fs
- NP_001394668.1:p.Glu685fs
- NP_001394669.1:p.Glu684fs
- NP_001394670.1:p.Glu684fs
- NP_001394671.1:p.Glu684fs
- NP_001394672.1:p.Glu684fs
- NP_001394673.1:p.Glu684fs
- NP_001394674.1:p.Glu684fs
- NP_001394675.1:p.Glu684fs
- NP_001394676.1:p.Glu684fs
- NP_001394677.1:p.Glu684fs
- NP_001394678.1:p.Glu684fs
- NP_001394679.1:p.Glu685fs
- NP_001394680.1:p.Glu685fs
- NP_001394681.1:p.Glu685fs
- NP_001394767.1:p.Glu684fs
- NP_001394768.1:p.Glu684fs
- NP_001394770.1:p.Glu684fs
- NP_001394771.1:p.Glu684fs
- NP_001394772.1:p.Glu684fs
- NP_001394773.1:p.Glu684fs
- NP_001394774.1:p.Glu684fs
- NP_001394775.1:p.Glu684fs
- NP_001394776.1:p.Glu684fs
- NP_001394777.1:p.Glu684fs
- NP_001394778.1:p.Glu684fs
- NP_001394779.1:p.Glu685fs
- NP_001394780.1:p.Glu685fs
- NP_001394781.1:p.Glu685fs
- NP_001394782.1:p.Glu661fs
- NP_001394783.1:p.Glu732fs
- NP_001394787.1:p.Glu732fs
- NP_001394788.1:p.Glu732fs
- NP_001394789.1:p.Glu731fs
- NP_001394790.1:p.Glu731fs
- NP_001394791.1:p.Glu665fs
- NP_001394792.1:p.Glu691fs
- NP_001394803.1:p.Glu664fs
- NP_001394804.1:p.Glu664fs
- NP_001394808.1:p.Glu662fs
- NP_001394810.1:p.Glu662fs
- NP_001394811.1:p.Glu662fs
- NP_001394813.1:p.Glu662fs
- NP_001394814.1:p.Glu662fs
- NP_001394815.1:p.Glu662fs
- NP_001394816.1:p.Glu662fs
- NP_001394818.1:p.Glu662fs
- NP_001394823.1:p.Glu661fs
- NP_001394824.1:p.Glu661fs
- NP_001394825.1:p.Glu661fs
- NP_001394826.1:p.Glu661fs
- NP_001394827.1:p.Glu661fs
- NP_001394828.1:p.Glu661fs
- NP_001394829.1:p.Glu662fs
- NP_001394831.1:p.Glu662fs
- NP_001394833.1:p.Glu662fs
- NP_001394835.1:p.Glu662fs
- NP_001394836.1:p.Glu662fs
- NP_001394837.1:p.Glu662fs
- NP_001394838.1:p.Glu662fs
- NP_001394839.1:p.Glu662fs
- NP_001394844.1:p.Glu661fs
- NP_001394845.1:p.Glu661fs
- NP_001394846.1:p.Glu661fs
- NP_001394847.1:p.Glu661fs
- NP_001394848.1:p.Glu691fs
- NP_001394849.1:p.Glu644fs
- NP_001394850.1:p.Glu644fs
- NP_001394851.1:p.Glu644fs
- NP_001394852.1:p.Glu644fs
- NP_001394853.1:p.Glu644fs
- NP_001394854.1:p.Glu644fs
- NP_001394855.1:p.Glu644fs
- NP_001394856.1:p.Glu644fs
- NP_001394857.1:p.Glu644fs
- NP_001394858.1:p.Glu644fs
- NP_001394859.1:p.Glu643fs
- NP_001394860.1:p.Glu643fs
- NP_001394861.1:p.Glu643fs
- NP_001394862.1:p.Glu644fs
- NP_001394863.1:p.Glu643fs
- NP_001394864.1:p.Glu644fs
- NP_001394865.1:p.Glu643fs
- NP_001394866.1:p.Glu691fs
- NP_001394867.1:p.Glu691fs
- NP_001394868.1:p.Glu691fs
- NP_001394869.1:p.Glu690fs
- NP_001394870.1:p.Glu690fs
- NP_001394871.1:p.Glu685fs
- NP_001394872.1:p.Glu684fs
- NP_001394873.1:p.Glu685fs
- NP_001394874.1:p.Glu685fs
- NP_001394875.1:p.Glu621fs
- NP_001394876.1:p.Glu621fs
- NP_001394877.1:p.Glu621fs
- NP_001394878.1:p.Glu621fs
- NP_001394879.1:p.Glu621fs
- NP_001394880.1:p.Glu621fs
- NP_001394881.1:p.Glu621fs
- NP_001394882.1:p.Glu621fs
- NP_001394883.1:p.Glu620fs
- NP_001394884.1:p.Glu620fs
- NP_001394885.1:p.Glu620fs
- NP_001394886.1:p.Glu621fs
- NP_001394887.1:p.Glu620fs
- NP_001394888.1:p.Glu605fs
- NP_001394889.1:p.Glu605fs
- NP_001394891.1:p.Glu604fs
- NP_001394892.1:p.Glu605fs
- NP_001394893.1:p.Glu684fs
- NP_001394894.1:p.Glu564fs
- NP_001394895.1:p.Glu436fs
- NP_001394896.1:p.Glu436fs
- NP_009225.1:p.Glu732Argfs
- NP_009225.1:p.Glu732fs
- NP_009228.2:p.Glu685fs
- NP_009231.2:p.Glu732fs
- LRG_292t1:c.2189dup
- LRG_292:g.124646dup
- LRG_292p1:p.Glu732Argfs
- NC_000017.10:g.41245359dup
- NM_007294.3:c.2189dup
- NM_007294.3:c.2193dupA
- NR_027676.2:n.2366dup
This HGVS expression did not pass validation- Protein change:
- E436fs
- Molecular consequence:
- NM_001407571.1:c.1980dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407581.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407582.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407583.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407585.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407587.1:c.2190dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407590.1:c.2190dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407591.1:c.2190dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407593.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407594.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407596.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407597.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407598.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407602.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407603.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407605.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407610.1:c.2190dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407611.1:c.2190dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407612.1:c.2190dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407613.1:c.2190dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407614.1:c.2190dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407615.1:c.2190dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407616.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407617.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407618.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407619.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407620.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407621.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407622.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407623.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407624.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407625.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407626.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407627.1:c.2190dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407628.1:c.2190dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407629.1:c.2190dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407630.1:c.2190dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407631.1:c.2190dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407632.1:c.2190dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407633.1:c.2190dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407634.1:c.2190dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407635.1:c.2190dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407636.1:c.2190dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407637.1:c.2190dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407638.1:c.2190dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407639.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407640.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407641.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407642.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407644.1:c.2190dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407645.1:c.2190dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407646.1:c.2184dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407647.1:c.2184dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407648.1:c.2070dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407649.1:c.2067dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407652.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407653.1:c.2115dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407654.1:c.2115dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407655.1:c.2115dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407656.1:c.2115dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407657.1:c.2115dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407658.1:c.2115dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407659.1:c.2112dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407660.1:c.2112dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407661.1:c.2112dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407662.1:c.2112dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407663.1:c.2115dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407664.1:c.2070dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407665.1:c.2070dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407666.1:c.2070dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407667.1:c.2070dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407668.1:c.2070dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407669.1:c.2070dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407670.1:c.2067dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407671.1:c.2067dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407672.1:c.2067dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407673.1:c.2067dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407674.1:c.2070dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407675.1:c.2070dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407676.1:c.2070dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407677.1:c.2070dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407678.1:c.2070dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407679.1:c.2070dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407680.1:c.2070dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407681.1:c.2070dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407682.1:c.2070dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407683.1:c.2070dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407684.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407685.1:c.2067dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407686.1:c.2067dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407687.1:c.2067dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407688.1:c.2067dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407689.1:c.2067dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407690.1:c.2067dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407691.1:c.2067dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407692.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407694.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407695.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407696.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407697.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407698.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407724.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407725.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407726.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407727.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407728.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407729.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407730.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407731.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407732.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407733.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407734.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407735.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407736.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407737.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407738.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407739.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407740.1:c.2049dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407741.1:c.2049dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407742.1:c.2049dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407743.1:c.2049dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407744.1:c.2049dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407745.1:c.2049dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407746.1:c.2049dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407747.1:c.2049dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407748.1:c.2049dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407749.1:c.2049dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407750.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407751.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407752.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407838.1:c.2049dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407839.1:c.2049dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407841.1:c.2049dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407842.1:c.2049dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407843.1:c.2049dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407844.1:c.2049dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407845.1:c.2049dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407846.1:c.2049dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407847.1:c.2049dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407848.1:c.2049dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407849.1:c.2049dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407850.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407851.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407852.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407853.1:c.1980dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407854.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407858.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407859.1:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407860.1:c.2190dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407861.1:c.2190dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407862.1:c.1992dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407863.1:c.2070dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407874.1:c.1989dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407875.1:c.1989dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407879.1:c.1983dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407881.1:c.1983dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407882.1:c.1983dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407884.1:c.1983dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407885.1:c.1983dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407886.1:c.1983dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407887.1:c.1983dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407889.1:c.1983dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407894.1:c.1980dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407895.1:c.1980dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407896.1:c.1980dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407897.1:c.1980dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407898.1:c.1980dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407899.1:c.1980dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407900.1:c.1983dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407902.1:c.1983dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407904.1:c.1983dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407906.1:c.1983dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407907.1:c.1983dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407908.1:c.1983dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407909.1:c.1983dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407910.1:c.1983dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407915.1:c.1980dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407916.1:c.1980dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407917.1:c.1980dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407918.1:c.1980dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407919.1:c.2070dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407920.1:c.1929dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407921.1:c.1929dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407922.1:c.1929dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407923.1:c.1929dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407924.1:c.1929dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407925.1:c.1929dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407926.1:c.1929dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407927.1:c.1929dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407928.1:c.1929dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407929.1:c.1929dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407930.1:c.1926dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407931.1:c.1926dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407932.1:c.1926dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407933.1:c.1929dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407934.1:c.1926dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407935.1:c.1929dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407936.1:c.1926dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407937.1:c.2070dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407938.1:c.2070dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407939.1:c.2070dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407940.1:c.2067dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407941.1:c.2067dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407942.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407943.1:c.2049dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407944.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407945.1:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407946.1:c.1860dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407947.1:c.1860dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407948.1:c.1860dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407949.1:c.1860dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407950.1:c.1860dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407951.1:c.1860dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407952.1:c.1860dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407953.1:c.1860dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407954.1:c.1857dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407955.1:c.1857dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407956.1:c.1857dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407957.1:c.1860dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407958.1:c.1857dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407959.1:c.1812dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407960.1:c.1812dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407962.1:c.1809dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407963.1:c.1812dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407964.1:c.2049dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407965.1:c.1689dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407966.1:c.1305dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407967.1:c.1305dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_007294.4:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_007297.4:c.2052dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_007300.4:c.2193dup - frameshift variant - [Sequence Ontology: SO:0001589]
- NM_001407968.1:c.788-1199dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407969.1:c.788-1199dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407970.1:c.787+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.787+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.784+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.787+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.787+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.787+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.787+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.787+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.787+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.787+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.787+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.787+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.787+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.787+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.784+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.784+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.784+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.787+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.784+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.784+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.787+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.784+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.784+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.784+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.784+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.784+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.784+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.784+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.784+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.787+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.787+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.790+1403dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.784+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.778+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.709+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.646+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.709+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.709+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.706+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.709+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.709+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.706+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.671-2306dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.671-2306dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.671-2306dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.668-2306dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.671-2306dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.671-2306dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.668-2306dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.664+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.664+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.664+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.664+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.664+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.664+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.668-2306dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.661+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.661+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.661+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.661+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.664+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.664+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.664+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.664+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.664+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.664+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.664+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.664+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.664+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.661+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.661+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.661+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.661+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.661+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.652+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.646+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.646+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.646+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.646+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.646+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.646+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.646+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.646+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.646+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.646+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.643+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.643+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.643+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.643+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.646+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.646+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.643+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.646+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.643+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.787+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.784+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.586+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.583+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.586+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.577+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.577+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.577+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.577+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.577+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.577+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.577+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.577+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.577+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.574+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.574+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.577+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.574+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.548-2306dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.545-2306dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.523+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.523+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.523+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.523+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.523+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.523+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.454+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.520+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.520+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.520+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.461-2306dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.461-2306dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.451+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.451+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.406+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.404-2306dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.283+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.577+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.577+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.787+1406dup - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.787+1406dup - intron variant - [Sequence Ontology: SO:0001627]
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
-
Homo sapiens coiled-coil domain containing 50 (CCDC50), transcript variant 2, mR...
Homo sapiens coiled-coil domain containing 50 (CCDC50), transcript variant 2, mRNAgi|201025400|ref|NM_178335.2|Nucleotide
-
LOC127820281 [Homo sapiens]
LOC127820281 [Homo sapiens]Gene ID:127820281Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV004004312 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Pathogenic (Apr 10, 2023) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Ambry Genetics, SCV004004312.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The c.2193dupA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of A at nucleotide position 2193, causing a translational frameshift with a predicted alternate stop codon (p.E732Rfs*8). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
# | 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 |
Last Updated: May 1, 2024