NM_007294.4(BRCA1):c.1367T>C (p.Ile456Thr) AND Hereditary cancer-predisposing syndrome
- 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:
- RCV000130503.15
Allele description [Variation Report for NM_007294.4(BRCA1):c.1367T>C (p.Ile456Thr)]
NM_007294.4(BRCA1):c.1367T>C (p.Ile456Thr)
- Gene:
- BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 17q21.31
- Genomic location:
- Preferred name:
- NM_007294.4(BRCA1):c.1367T>C (p.Ile456Thr)
- HGVS:
- NC_000017.11:g.43094164A>G
- NG_005905.2:g.123820T>C
- NM_001407571.1:c.1154T>C
- NM_001407581.1:c.1367T>C
- NM_001407582.1:c.1367T>C
- NM_001407583.1:c.1367T>C
- NM_001407585.1:c.1367T>C
- NM_001407587.1:c.1364T>C
- NM_001407590.1:c.1364T>C
- NM_001407591.1:c.1364T>C
- NM_001407593.1:c.1367T>C
- NM_001407594.1:c.1367T>C
- NM_001407596.1:c.1367T>C
- NM_001407597.1:c.1367T>C
- NM_001407598.1:c.1367T>C
- NM_001407602.1:c.1367T>C
- NM_001407603.1:c.1367T>C
- NM_001407605.1:c.1367T>C
- NM_001407610.1:c.1364T>C
- NM_001407611.1:c.1364T>C
- NM_001407612.1:c.1364T>C
- NM_001407613.1:c.1364T>C
- NM_001407614.1:c.1364T>C
- NM_001407615.1:c.1364T>C
- NM_001407616.1:c.1367T>C
- NM_001407617.1:c.1367T>C
- NM_001407618.1:c.1367T>C
- NM_001407619.1:c.1367T>C
- NM_001407620.1:c.1367T>C
- NM_001407621.1:c.1367T>C
- NM_001407622.1:c.1367T>C
- NM_001407623.1:c.1367T>C
- NM_001407624.1:c.1367T>C
- NM_001407625.1:c.1367T>C
- NM_001407626.1:c.1367T>C
- NM_001407627.1:c.1364T>C
- NM_001407628.1:c.1364T>C
- NM_001407629.1:c.1364T>C
- NM_001407630.1:c.1364T>C
- NM_001407631.1:c.1364T>C
- NM_001407632.1:c.1364T>C
- NM_001407633.1:c.1364T>C
- NM_001407634.1:c.1364T>C
- NM_001407635.1:c.1364T>C
- NM_001407636.1:c.1364T>C
- NM_001407637.1:c.1364T>C
- NM_001407638.1:c.1364T>C
- NM_001407639.1:c.1367T>C
- NM_001407640.1:c.1367T>C
- NM_001407641.1:c.1367T>C
- NM_001407642.1:c.1367T>C
- NM_001407644.1:c.1364T>C
- NM_001407645.1:c.1364T>C
- NM_001407646.1:c.1358T>C
- NM_001407647.1:c.1358T>C
- NM_001407648.1:c.1244T>C
- NM_001407649.1:c.1241T>C
- NM_001407652.1:c.1367T>C
- NM_001407653.1:c.1289T>C
- NM_001407654.1:c.1289T>C
- NM_001407655.1:c.1289T>C
- NM_001407656.1:c.1289T>C
- NM_001407657.1:c.1289T>C
- NM_001407658.1:c.1289T>C
- NM_001407659.1:c.1286T>C
- NM_001407660.1:c.1286T>C
- NM_001407661.1:c.1286T>C
- NM_001407662.1:c.1286T>C
- NM_001407663.1:c.1289T>C
- NM_001407664.1:c.1244T>C
- NM_001407665.1:c.1244T>C
- NM_001407666.1:c.1244T>C
- NM_001407667.1:c.1244T>C
- NM_001407668.1:c.1244T>C
- NM_001407669.1:c.1244T>C
- NM_001407670.1:c.1241T>C
- NM_001407671.1:c.1241T>C
- NM_001407672.1:c.1241T>C
- NM_001407673.1:c.1241T>C
- NM_001407674.1:c.1244T>C
- NM_001407675.1:c.1244T>C
- NM_001407676.1:c.1244T>C
- NM_001407677.1:c.1244T>C
- NM_001407678.1:c.1244T>C
- NM_001407679.1:c.1244T>C
- NM_001407680.1:c.1244T>C
- NM_001407681.1:c.1244T>C
- NM_001407682.1:c.1244T>C
- NM_001407683.1:c.1244T>C
- NM_001407684.1:c.1367T>C
- NM_001407685.1:c.1241T>C
- NM_001407686.1:c.1241T>C
- NM_001407687.1:c.1241T>C
- NM_001407688.1:c.1241T>C
- NM_001407689.1:c.1241T>C
- NM_001407690.1:c.1241T>C
- NM_001407691.1:c.1241T>C
- NM_001407692.1:c.1226T>C
- NM_001407694.1:c.1226T>C
- NM_001407695.1:c.1226T>C
- NM_001407696.1:c.1226T>C
- NM_001407697.1:c.1226T>C
- NM_001407698.1:c.1226T>C
- NM_001407724.1:c.1226T>C
- NM_001407725.1:c.1226T>C
- NM_001407726.1:c.1226T>C
- NM_001407727.1:c.1226T>C
- NM_001407728.1:c.1226T>C
- NM_001407729.1:c.1226T>C
- NM_001407730.1:c.1226T>C
- NM_001407731.1:c.1226T>C
- NM_001407732.1:c.1226T>C
- NM_001407733.1:c.1226T>C
- NM_001407734.1:c.1226T>C
- NM_001407735.1:c.1226T>C
- NM_001407736.1:c.1226T>C
- NM_001407737.1:c.1226T>C
- NM_001407738.1:c.1226T>C
- NM_001407739.1:c.1226T>C
- NM_001407740.1:c.1223T>C
- NM_001407741.1:c.1223T>C
- NM_001407742.1:c.1223T>C
- NM_001407743.1:c.1223T>C
- NM_001407744.1:c.1223T>C
- NM_001407745.1:c.1223T>C
- NM_001407746.1:c.1223T>C
- NM_001407747.1:c.1223T>C
- NM_001407748.1:c.1223T>C
- NM_001407749.1:c.1223T>C
- NM_001407750.1:c.1226T>C
- NM_001407751.1:c.1226T>C
- NM_001407752.1:c.1226T>C
- NM_001407838.1:c.1223T>C
- NM_001407839.1:c.1223T>C
- NM_001407841.1:c.1223T>C
- NM_001407842.1:c.1223T>C
- NM_001407843.1:c.1223T>C
- NM_001407844.1:c.1223T>C
- NM_001407845.1:c.1223T>C
- NM_001407846.1:c.1223T>C
- NM_001407847.1:c.1223T>C
- NM_001407848.1:c.1223T>C
- NM_001407849.1:c.1223T>C
- NM_001407850.1:c.1226T>C
- NM_001407851.1:c.1226T>C
- NM_001407852.1:c.1226T>C
- NM_001407853.1:c.1154T>C
- NM_001407854.1:c.1367T>C
- NM_001407858.1:c.1367T>C
- NM_001407859.1:c.1367T>C
- NM_001407860.1:c.1364T>C
- NM_001407861.1:c.1364T>C
- NM_001407862.1:c.1166T>C
- NM_001407863.1:c.1244T>C
- NM_001407874.1:c.1163T>C
- NM_001407875.1:c.1163T>C
- NM_001407879.1:c.1157T>C
- NM_001407881.1:c.1157T>C
- NM_001407882.1:c.1157T>C
- NM_001407884.1:c.1157T>C
- NM_001407885.1:c.1157T>C
- NM_001407886.1:c.1157T>C
- NM_001407887.1:c.1157T>C
- NM_001407889.1:c.1157T>C
- NM_001407894.1:c.1154T>C
- NM_001407895.1:c.1154T>C
- NM_001407896.1:c.1154T>C
- NM_001407897.1:c.1154T>C
- NM_001407898.1:c.1154T>C
- NM_001407899.1:c.1154T>C
- NM_001407900.1:c.1157T>C
- NM_001407902.1:c.1157T>C
- NM_001407904.1:c.1157T>C
- NM_001407906.1:c.1157T>C
- NM_001407907.1:c.1157T>C
- NM_001407908.1:c.1157T>C
- NM_001407909.1:c.1157T>C
- NM_001407910.1:c.1157T>C
- NM_001407915.1:c.1154T>C
- NM_001407916.1:c.1154T>C
- NM_001407917.1:c.1154T>C
- NM_001407918.1:c.1154T>C
- NM_001407919.1:c.1244T>C
- NM_001407920.1:c.1103T>C
- NM_001407921.1:c.1103T>C
- NM_001407922.1:c.1103T>C
- NM_001407923.1:c.1103T>C
- NM_001407924.1:c.1103T>C
- NM_001407925.1:c.1103T>C
- NM_001407926.1:c.1103T>C
- NM_001407927.1:c.1103T>C
- NM_001407928.1:c.1103T>C
- NM_001407929.1:c.1103T>C
- NM_001407930.1:c.1100T>C
- NM_001407931.1:c.1100T>C
- NM_001407932.1:c.1100T>C
- NM_001407933.1:c.1103T>C
- NM_001407934.1:c.1100T>C
- NM_001407935.1:c.1103T>C
- NM_001407936.1:c.1100T>C
- NM_001407937.1:c.1244T>C
- NM_001407938.1:c.1244T>C
- NM_001407939.1:c.1244T>C
- NM_001407940.1:c.1241T>C
- NM_001407941.1:c.1241T>C
- NM_001407942.1:c.1226T>C
- NM_001407943.1:c.1223T>C
- NM_001407944.1:c.1226T>C
- NM_001407945.1:c.1226T>C
- NM_001407946.1:c.1034T>C
- NM_001407947.1:c.1034T>C
- NM_001407948.1:c.1034T>C
- NM_001407949.1:c.1034T>C
- NM_001407950.1:c.1034T>C
- NM_001407951.1:c.1034T>C
- NM_001407952.1:c.1034T>C
- NM_001407953.1:c.1034T>C
- NM_001407954.1:c.1031T>C
- NM_001407955.1:c.1031T>C
- NM_001407956.1:c.1031T>C
- NM_001407957.1:c.1034T>C
- NM_001407958.1:c.1031T>C
- NM_001407959.1:c.986T>C
- NM_001407960.1:c.986T>C
- NM_001407962.1:c.983T>C
- NM_001407963.1:c.986T>C
- NM_001407964.1:c.1223T>C
- NM_001407965.1:c.863T>C
- NM_001407966.1:c.479T>C
- NM_001407967.1:c.479T>C
- NM_001407968.1:c.787+580T>C
- NM_001407969.1:c.787+580T>C
- NM_001407970.1:c.787+580T>C
- NM_001407971.1:c.787+580T>C
- NM_001407972.1:c.784+580T>C
- NM_001407973.1:c.787+580T>C
- NM_001407974.1:c.787+580T>C
- NM_001407975.1:c.787+580T>C
- NM_001407976.1:c.787+580T>C
- NM_001407977.1:c.787+580T>C
- NM_001407978.1:c.787+580T>C
- NM_001407979.1:c.787+580T>C
- NM_001407980.1:c.787+580T>C
- NM_001407981.1:c.787+580T>C
- NM_001407982.1:c.787+580T>C
- NM_001407983.1:c.787+580T>C
- NM_001407984.1:c.784+580T>C
- NM_001407985.1:c.784+580T>C
- NM_001407986.1:c.784+580T>C
- NM_001407990.1:c.787+580T>C
- NM_001407991.1:c.784+580T>C
- NM_001407992.1:c.784+580T>C
- NM_001407993.1:c.787+580T>C
- NM_001408392.1:c.784+580T>C
- NM_001408396.1:c.784+580T>C
- NM_001408397.1:c.784+580T>C
- NM_001408398.1:c.784+580T>C
- NM_001408399.1:c.784+580T>C
- NM_001408400.1:c.784+580T>C
- NM_001408401.1:c.784+580T>C
- NM_001408402.1:c.784+580T>C
- NM_001408403.1:c.787+580T>C
- NM_001408404.1:c.787+580T>C
- NM_001408406.1:c.790+577T>C
- NM_001408407.1:c.784+580T>C
- NM_001408408.1:c.778+580T>C
- NM_001408409.1:c.709+580T>C
- NM_001408410.1:c.646+580T>C
- NM_001408411.1:c.709+580T>C
- NM_001408412.1:c.709+580T>C
- NM_001408413.1:c.706+580T>C
- NM_001408414.1:c.709+580T>C
- NM_001408415.1:c.709+580T>C
- NM_001408416.1:c.706+580T>C
- NM_001408418.1:c.670+1682T>C
- NM_001408419.1:c.670+1682T>C
- NM_001408420.1:c.670+1682T>C
- NM_001408421.1:c.667+1682T>C
- NM_001408422.1:c.670+1682T>C
- NM_001408423.1:c.670+1682T>C
- NM_001408424.1:c.667+1682T>C
- NM_001408425.1:c.664+580T>C
- NM_001408426.1:c.664+580T>C
- NM_001408427.1:c.664+580T>C
- NM_001408428.1:c.664+580T>C
- NM_001408429.1:c.664+580T>C
- NM_001408430.1:c.664+580T>C
- NM_001408431.1:c.667+1682T>C
- NM_001408432.1:c.661+580T>C
- NM_001408433.1:c.661+580T>C
- NM_001408434.1:c.661+580T>C
- NM_001408435.1:c.661+580T>C
- NM_001408436.1:c.664+580T>C
- NM_001408437.1:c.664+580T>C
- NM_001408438.1:c.664+580T>C
- NM_001408439.1:c.664+580T>C
- NM_001408440.1:c.664+580T>C
- NM_001408441.1:c.664+580T>C
- NM_001408442.1:c.664+580T>C
- NM_001408443.1:c.664+580T>C
- NM_001408444.1:c.664+580T>C
- NM_001408445.1:c.661+580T>C
- NM_001408446.1:c.661+580T>C
- NM_001408447.1:c.661+580T>C
- NM_001408448.1:c.661+580T>C
- NM_001408450.1:c.661+580T>C
- NM_001408451.1:c.652+580T>C
- NM_001408452.1:c.646+580T>C
- NM_001408453.1:c.646+580T>C
- NM_001408454.1:c.646+580T>C
- NM_001408455.1:c.646+580T>C
- NM_001408456.1:c.646+580T>C
- NM_001408457.1:c.646+580T>C
- NM_001408458.1:c.646+580T>C
- NM_001408459.1:c.646+580T>C
- NM_001408460.1:c.646+580T>C
- NM_001408461.1:c.646+580T>C
- NM_001408462.1:c.643+580T>C
- NM_001408463.1:c.643+580T>C
- NM_001408464.1:c.643+580T>C
- NM_001408465.1:c.643+580T>C
- NM_001408466.1:c.646+580T>C
- NM_001408467.1:c.646+580T>C
- NM_001408468.1:c.643+580T>C
- NM_001408469.1:c.646+580T>C
- NM_001408470.1:c.643+580T>C
- NM_001408472.1:c.787+580T>C
- NM_001408473.1:c.784+580T>C
- NM_001408474.1:c.586+580T>C
- NM_001408475.1:c.583+580T>C
- NM_001408476.1:c.586+580T>C
- NM_001408478.1:c.577+580T>C
- NM_001408479.1:c.577+580T>C
- NM_001408480.1:c.577+580T>C
- NM_001408481.1:c.577+580T>C
- NM_001408482.1:c.577+580T>C
- NM_001408483.1:c.577+580T>C
- NM_001408484.1:c.577+580T>C
- NM_001408485.1:c.577+580T>C
- NM_001408489.1:c.577+580T>C
- NM_001408490.1:c.574+580T>C
- NM_001408491.1:c.574+580T>C
- NM_001408492.1:c.577+580T>C
- NM_001408493.1:c.574+580T>C
- NM_001408494.1:c.548-3132T>C
- NM_001408495.1:c.545-3132T>C
- NM_001408496.1:c.523+580T>C
- NM_001408497.1:c.523+580T>C
- NM_001408498.1:c.523+580T>C
- NM_001408499.1:c.523+580T>C
- NM_001408500.1:c.523+580T>C
- NM_001408501.1:c.523+580T>C
- NM_001408502.1:c.454+580T>C
- NM_001408503.1:c.520+580T>C
- NM_001408504.1:c.520+580T>C
- NM_001408505.1:c.520+580T>C
- NM_001408506.1:c.460+1682T>C
- NM_001408507.1:c.460+1682T>C
- NM_001408508.1:c.451+580T>C
- NM_001408509.1:c.451+580T>C
- NM_001408510.1:c.406+580T>C
- NM_001408511.1:c.404-3132T>C
- NM_001408512.1:c.283+580T>C
- NM_001408513.1:c.577+580T>C
- NM_001408514.1:c.577+580T>C
- NM_007294.4:c.1367T>CMANE SELECT
- NM_007297.4:c.1226T>C
- NM_007298.4:c.787+580T>C
- NM_007299.4:c.787+580T>C
- NM_007300.4:c.1367T>C
- NP_001394500.1:p.Ile385Thr
- NP_001394510.1:p.Ile456Thr
- NP_001394511.1:p.Ile456Thr
- NP_001394512.1:p.Ile456Thr
- NP_001394514.1:p.Ile456Thr
- NP_001394516.1:p.Ile455Thr
- NP_001394519.1:p.Ile455Thr
- NP_001394520.1:p.Ile455Thr
- NP_001394522.1:p.Ile456Thr
- NP_001394523.1:p.Ile456Thr
- NP_001394525.1:p.Ile456Thr
- NP_001394526.1:p.Ile456Thr
- NP_001394527.1:p.Ile456Thr
- NP_001394531.1:p.Ile456Thr
- NP_001394532.1:p.Ile456Thr
- NP_001394534.1:p.Ile456Thr
- NP_001394539.1:p.Ile455Thr
- NP_001394540.1:p.Ile455Thr
- NP_001394541.1:p.Ile455Thr
- NP_001394542.1:p.Ile455Thr
- NP_001394543.1:p.Ile455Thr
- NP_001394544.1:p.Ile455Thr
- NP_001394545.1:p.Ile456Thr
- NP_001394546.1:p.Ile456Thr
- NP_001394547.1:p.Ile456Thr
- NP_001394548.1:p.Ile456Thr
- NP_001394549.1:p.Ile456Thr
- NP_001394550.1:p.Ile456Thr
- NP_001394551.1:p.Ile456Thr
- NP_001394552.1:p.Ile456Thr
- NP_001394553.1:p.Ile456Thr
- NP_001394554.1:p.Ile456Thr
- NP_001394555.1:p.Ile456Thr
- NP_001394556.1:p.Ile455Thr
- NP_001394557.1:p.Ile455Thr
- NP_001394558.1:p.Ile455Thr
- NP_001394559.1:p.Ile455Thr
- NP_001394560.1:p.Ile455Thr
- NP_001394561.1:p.Ile455Thr
- NP_001394562.1:p.Ile455Thr
- NP_001394563.1:p.Ile455Thr
- NP_001394564.1:p.Ile455Thr
- NP_001394565.1:p.Ile455Thr
- NP_001394566.1:p.Ile455Thr
- NP_001394567.1:p.Ile455Thr
- NP_001394568.1:p.Ile456Thr
- NP_001394569.1:p.Ile456Thr
- NP_001394570.1:p.Ile456Thr
- NP_001394571.1:p.Ile456Thr
- NP_001394573.1:p.Ile455Thr
- NP_001394574.1:p.Ile455Thr
- NP_001394575.1:p.Ile453Thr
- NP_001394576.1:p.Ile453Thr
- NP_001394577.1:p.Ile415Thr
- NP_001394578.1:p.Ile414Thr
- NP_001394581.1:p.Ile456Thr
- NP_001394582.1:p.Ile430Thr
- NP_001394583.1:p.Ile430Thr
- NP_001394584.1:p.Ile430Thr
- NP_001394585.1:p.Ile430Thr
- NP_001394586.1:p.Ile430Thr
- NP_001394587.1:p.Ile430Thr
- NP_001394588.1:p.Ile429Thr
- NP_001394589.1:p.Ile429Thr
- NP_001394590.1:p.Ile429Thr
- NP_001394591.1:p.Ile429Thr
- NP_001394592.1:p.Ile430Thr
- NP_001394593.1:p.Ile415Thr
- NP_001394594.1:p.Ile415Thr
- NP_001394595.1:p.Ile415Thr
- NP_001394596.1:p.Ile415Thr
- NP_001394597.1:p.Ile415Thr
- NP_001394598.1:p.Ile415Thr
- NP_001394599.1:p.Ile414Thr
- NP_001394600.1:p.Ile414Thr
- NP_001394601.1:p.Ile414Thr
- NP_001394602.1:p.Ile414Thr
- NP_001394603.1:p.Ile415Thr
- NP_001394604.1:p.Ile415Thr
- NP_001394605.1:p.Ile415Thr
- NP_001394606.1:p.Ile415Thr
- NP_001394607.1:p.Ile415Thr
- NP_001394608.1:p.Ile415Thr
- NP_001394609.1:p.Ile415Thr
- NP_001394610.1:p.Ile415Thr
- NP_001394611.1:p.Ile415Thr
- NP_001394612.1:p.Ile415Thr
- NP_001394613.1:p.Ile456Thr
- NP_001394614.1:p.Ile414Thr
- NP_001394615.1:p.Ile414Thr
- NP_001394616.1:p.Ile414Thr
- NP_001394617.1:p.Ile414Thr
- NP_001394618.1:p.Ile414Thr
- NP_001394619.1:p.Ile414Thr
- NP_001394620.1:p.Ile414Thr
- NP_001394621.1:p.Ile409Thr
- NP_001394623.1:p.Ile409Thr
- NP_001394624.1:p.Ile409Thr
- NP_001394625.1:p.Ile409Thr
- NP_001394626.1:p.Ile409Thr
- NP_001394627.1:p.Ile409Thr
- NP_001394653.1:p.Ile409Thr
- NP_001394654.1:p.Ile409Thr
- NP_001394655.1:p.Ile409Thr
- NP_001394656.1:p.Ile409Thr
- NP_001394657.1:p.Ile409Thr
- NP_001394658.1:p.Ile409Thr
- NP_001394659.1:p.Ile409Thr
- NP_001394660.1:p.Ile409Thr
- NP_001394661.1:p.Ile409Thr
- NP_001394662.1:p.Ile409Thr
- NP_001394663.1:p.Ile409Thr
- NP_001394664.1:p.Ile409Thr
- NP_001394665.1:p.Ile409Thr
- NP_001394666.1:p.Ile409Thr
- NP_001394667.1:p.Ile409Thr
- NP_001394668.1:p.Ile409Thr
- NP_001394669.1:p.Ile408Thr
- NP_001394670.1:p.Ile408Thr
- NP_001394671.1:p.Ile408Thr
- NP_001394672.1:p.Ile408Thr
- NP_001394673.1:p.Ile408Thr
- NP_001394674.1:p.Ile408Thr
- NP_001394675.1:p.Ile408Thr
- NP_001394676.1:p.Ile408Thr
- NP_001394677.1:p.Ile408Thr
- NP_001394678.1:p.Ile408Thr
- NP_001394679.1:p.Ile409Thr
- NP_001394680.1:p.Ile409Thr
- NP_001394681.1:p.Ile409Thr
- NP_001394767.1:p.Ile408Thr
- NP_001394768.1:p.Ile408Thr
- NP_001394770.1:p.Ile408Thr
- NP_001394771.1:p.Ile408Thr
- NP_001394772.1:p.Ile408Thr
- NP_001394773.1:p.Ile408Thr
- NP_001394774.1:p.Ile408Thr
- NP_001394775.1:p.Ile408Thr
- NP_001394776.1:p.Ile408Thr
- NP_001394777.1:p.Ile408Thr
- NP_001394778.1:p.Ile408Thr
- NP_001394779.1:p.Ile409Thr
- NP_001394780.1:p.Ile409Thr
- NP_001394781.1:p.Ile409Thr
- NP_001394782.1:p.Ile385Thr
- NP_001394783.1:p.Ile456Thr
- NP_001394787.1:p.Ile456Thr
- NP_001394788.1:p.Ile456Thr
- NP_001394789.1:p.Ile455Thr
- NP_001394790.1:p.Ile455Thr
- NP_001394791.1:p.Ile389Thr
- NP_001394792.1:p.Ile415Thr
- NP_001394803.1:p.Ile388Thr
- NP_001394804.1:p.Ile388Thr
- NP_001394808.1:p.Ile386Thr
- NP_001394810.1:p.Ile386Thr
- NP_001394811.1:p.Ile386Thr
- NP_001394813.1:p.Ile386Thr
- NP_001394814.1:p.Ile386Thr
- NP_001394815.1:p.Ile386Thr
- NP_001394816.1:p.Ile386Thr
- NP_001394818.1:p.Ile386Thr
- NP_001394823.1:p.Ile385Thr
- NP_001394824.1:p.Ile385Thr
- NP_001394825.1:p.Ile385Thr
- NP_001394826.1:p.Ile385Thr
- NP_001394827.1:p.Ile385Thr
- NP_001394828.1:p.Ile385Thr
- NP_001394829.1:p.Ile386Thr
- NP_001394831.1:p.Ile386Thr
- NP_001394833.1:p.Ile386Thr
- NP_001394835.1:p.Ile386Thr
- NP_001394836.1:p.Ile386Thr
- NP_001394837.1:p.Ile386Thr
- NP_001394838.1:p.Ile386Thr
- NP_001394839.1:p.Ile386Thr
- NP_001394844.1:p.Ile385Thr
- NP_001394845.1:p.Ile385Thr
- NP_001394846.1:p.Ile385Thr
- NP_001394847.1:p.Ile385Thr
- NP_001394848.1:p.Ile415Thr
- NP_001394849.1:p.Ile368Thr
- NP_001394850.1:p.Ile368Thr
- NP_001394851.1:p.Ile368Thr
- NP_001394852.1:p.Ile368Thr
- NP_001394853.1:p.Ile368Thr
- NP_001394854.1:p.Ile368Thr
- NP_001394855.1:p.Ile368Thr
- NP_001394856.1:p.Ile368Thr
- NP_001394857.1:p.Ile368Thr
- NP_001394858.1:p.Ile368Thr
- NP_001394859.1:p.Ile367Thr
- NP_001394860.1:p.Ile367Thr
- NP_001394861.1:p.Ile367Thr
- NP_001394862.1:p.Ile368Thr
- NP_001394863.1:p.Ile367Thr
- NP_001394864.1:p.Ile368Thr
- NP_001394865.1:p.Ile367Thr
- NP_001394866.1:p.Ile415Thr
- NP_001394867.1:p.Ile415Thr
- NP_001394868.1:p.Ile415Thr
- NP_001394869.1:p.Ile414Thr
- NP_001394870.1:p.Ile414Thr
- NP_001394871.1:p.Ile409Thr
- NP_001394872.1:p.Ile408Thr
- NP_001394873.1:p.Ile409Thr
- NP_001394874.1:p.Ile409Thr
- NP_001394875.1:p.Ile345Thr
- NP_001394876.1:p.Ile345Thr
- NP_001394877.1:p.Ile345Thr
- NP_001394878.1:p.Ile345Thr
- NP_001394879.1:p.Ile345Thr
- NP_001394880.1:p.Ile345Thr
- NP_001394881.1:p.Ile345Thr
- NP_001394882.1:p.Ile345Thr
- NP_001394883.1:p.Ile344Thr
- NP_001394884.1:p.Ile344Thr
- NP_001394885.1:p.Ile344Thr
- NP_001394886.1:p.Ile345Thr
- NP_001394887.1:p.Ile344Thr
- NP_001394888.1:p.Ile329Thr
- NP_001394889.1:p.Ile329Thr
- NP_001394891.1:p.Ile328Thr
- NP_001394892.1:p.Ile329Thr
- NP_001394893.1:p.Ile408Thr
- NP_001394894.1:p.Ile288Thr
- NP_001394895.1:p.Ile160Thr
- NP_001394896.1:p.Ile160Thr
- NP_009225.1:p.Ile456Thr
- NP_009225.1:p.Ile456Thr
- NP_009228.2:p.Ile409Thr
- NP_009231.2:p.Ile456Thr
- LRG_292t1:c.1367T>C
- LRG_292:g.123820T>C
- LRG_292p1:p.Ile456Thr
- NC_000017.10:g.41246181A>G
- NM_007294.3:c.1367T>C
- NR_027676.1:n.1503T>C
- U14680.1:n.1486T>C
- p.I456T
This HGVS expression did not pass validation- Protein change:
- I160T
- Links:
- dbSNP: rs80357360
- NCBI 1000 Genomes Browser:
- rs80357360
- Molecular consequence:
- NM_001407968.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407969.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407970.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.790+577T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.778+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.709+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.646+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.709+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.709+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.706+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.709+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.709+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.706+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.670+1682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.670+1682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.670+1682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.667+1682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.670+1682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.670+1682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.667+1682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.667+1682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.661+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.661+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.661+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.661+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.664+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.661+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.661+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.661+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.661+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.661+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.652+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.646+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.646+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.646+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.646+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.646+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.646+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.646+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.646+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.646+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.646+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.643+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.643+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.643+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.643+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.646+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.646+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.643+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.646+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.643+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.784+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.586+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.583+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.586+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.577+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.577+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.577+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.577+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.577+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.577+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.577+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.577+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.577+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.574+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.574+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.577+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.574+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.548-3132T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.545-3132T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.523+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.523+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.523+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.523+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.523+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.523+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.454+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.520+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.520+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.520+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.460+1682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.460+1682T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.451+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.451+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.406+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.404-3132T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.283+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.577+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.577+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.787+580T>C - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407571.1:c.1154T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.1358T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.1358T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.1289T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.1289T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.1289T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.1289T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.1289T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.1289T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.1286T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.1286T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.1286T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.1286T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.1289T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.1154T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.1364T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.1166T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.1163T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.1163T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.1154T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.1154T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.1154T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.1154T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.1154T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.1154T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.1157T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.1154T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.1154T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.1154T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.1154T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.1100T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.1100T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.1100T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.1100T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.1103T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.1100T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.1244T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.1241T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.1034T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.1034T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.1034T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.1034T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.1034T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.1034T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.1034T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.1034T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.1031T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.1031T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.1031T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.1034T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.1031T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.986T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.986T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.983T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.986T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.1223T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.863T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.479T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.479T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.1226T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.1367T>C - missense variant - [Sequence Ontology: SO:0001583]
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
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000185372 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (Feb 26, 2024) | germline | clinical testing | |
SCV000911714 | Color Diagnostics, LLC DBA Color Health | criteria provided, single submitter (ACMG Guidelines, 2015) | Uncertain significance (Jun 21, 2022) | germline | clinical testing | |
SCV003851344 | University of Washington Department of Laboratory Medicine, University of Washington | criteria provided, single submitter (Dines et al. (Genet Med. 2020)) | Likely benign (Mar 23, 2023) | germline | curation |
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, curation |
Citations
PubMed
Momozawa Y, Iwasaki Y, Parsons MT, Kamatani Y, Takahashi A, Tamura C, Katagiri T, Yoshida T, Nakamura S, Sugano K, Miki Y, Hirata M, Matsuda K, Spurdle AB, Kubo M.
Nat Commun. 2018 Oct 4;9(1):4083. doi: 10.1038/s41467-018-06581-8.
- PMID:
- 30287823
- PMCID:
- PMC6172276
Mizukami K, Iwasaki Y, Kawakami E, Hirata M, Kamatani Y, Matsuda K, Endo M, Sugano K, Yoshida T, Murakami Y, Nakagawa H, Spurdle AB, Momozawa Y.
EBioMedicine. 2020 Oct;60:103033. doi: 10.1016/j.ebiom.2020.103033. Epub 2020 Sep 24.
- PMID:
- 32980694
- PMCID:
- PMC7519363
Details of each submission
From Ambry Genetics, SCV000185372.7
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The p.I456T variant (also known as c.1367T>C), located in coding exon 9 of the BRCA1 gene, results from a T to C substitution at nucleotide position 1367. The isoleucine at codon 456 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
# | 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 Color Diagnostics, LLC DBA Color Health, SCV000911714.3
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (4) |
Description
This missense variant replaces isoleucine with threonine at codon 456 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been detected in a breast cancer case-control meta-analysis in 1/60466 cases and 2/53461 unaffected individuals (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA1_000144). This variant also has been reported in two Japanese breast cancer and pancreatic cancer case-control studies in two unaffected individuals in each study and absent in cancer cases (PMID: 30287823, 32980694). This variant has been identified in 2/251050 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
# | 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 University of Washington Department of Laboratory Medicine, University of Washington, SCV003851344.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | curation | PubMed (1) |
Description
Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
# | 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: Oct 8, 2024