NM_007294.4(BRCA1):c.1214C>T (p.Ser405Leu) 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:
- RCV003157840.4
Allele description [Variation Report for NM_007294.4(BRCA1):c.1214C>T (p.Ser405Leu)]
NM_007294.4(BRCA1):c.1214C>T (p.Ser405Leu)
- 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.1214C>T (p.Ser405Leu)
- HGVS:
- NC_000017.11:g.43094317G>A
- NG_005905.2:g.123667C>T
- NM_001407571.1:c.1001C>T
- NM_001407581.1:c.1214C>T
- NM_001407582.1:c.1214C>T
- NM_001407583.1:c.1214C>T
- NM_001407585.1:c.1214C>T
- NM_001407587.1:c.1211C>T
- NM_001407590.1:c.1211C>T
- NM_001407591.1:c.1211C>T
- NM_001407593.1:c.1214C>T
- NM_001407594.1:c.1214C>T
- NM_001407596.1:c.1214C>T
- NM_001407597.1:c.1214C>T
- NM_001407598.1:c.1214C>T
- NM_001407602.1:c.1214C>T
- NM_001407603.1:c.1214C>T
- NM_001407605.1:c.1214C>T
- NM_001407610.1:c.1211C>T
- NM_001407611.1:c.1211C>T
- NM_001407612.1:c.1211C>T
- NM_001407613.1:c.1211C>T
- NM_001407614.1:c.1211C>T
- NM_001407615.1:c.1211C>T
- NM_001407616.1:c.1214C>T
- NM_001407617.1:c.1214C>T
- NM_001407618.1:c.1214C>T
- NM_001407619.1:c.1214C>T
- NM_001407620.1:c.1214C>T
- NM_001407621.1:c.1214C>T
- NM_001407622.1:c.1214C>T
- NM_001407623.1:c.1214C>T
- NM_001407624.1:c.1214C>T
- NM_001407625.1:c.1214C>T
- NM_001407626.1:c.1214C>T
- NM_001407627.1:c.1211C>T
- NM_001407628.1:c.1211C>T
- NM_001407629.1:c.1211C>T
- NM_001407630.1:c.1211C>T
- NM_001407631.1:c.1211C>T
- NM_001407632.1:c.1211C>T
- NM_001407633.1:c.1211C>T
- NM_001407634.1:c.1211C>T
- NM_001407635.1:c.1211C>T
- NM_001407636.1:c.1211C>T
- NM_001407637.1:c.1211C>T
- NM_001407638.1:c.1211C>T
- NM_001407639.1:c.1214C>T
- NM_001407640.1:c.1214C>T
- NM_001407641.1:c.1214C>T
- NM_001407642.1:c.1214C>T
- NM_001407644.1:c.1211C>T
- NM_001407645.1:c.1211C>T
- NM_001407646.1:c.1205C>T
- NM_001407647.1:c.1205C>T
- NM_001407648.1:c.1091C>T
- NM_001407649.1:c.1088C>T
- NM_001407652.1:c.1214C>T
- NM_001407653.1:c.1136C>T
- NM_001407654.1:c.1136C>T
- NM_001407655.1:c.1136C>T
- NM_001407656.1:c.1136C>T
- NM_001407657.1:c.1136C>T
- NM_001407658.1:c.1136C>T
- NM_001407659.1:c.1133C>T
- NM_001407660.1:c.1133C>T
- NM_001407661.1:c.1133C>T
- NM_001407662.1:c.1133C>T
- NM_001407663.1:c.1136C>T
- NM_001407664.1:c.1091C>T
- NM_001407665.1:c.1091C>T
- NM_001407666.1:c.1091C>T
- NM_001407667.1:c.1091C>T
- NM_001407668.1:c.1091C>T
- NM_001407669.1:c.1091C>T
- NM_001407670.1:c.1088C>T
- NM_001407671.1:c.1088C>T
- NM_001407672.1:c.1088C>T
- NM_001407673.1:c.1088C>T
- NM_001407674.1:c.1091C>T
- NM_001407675.1:c.1091C>T
- NM_001407676.1:c.1091C>T
- NM_001407677.1:c.1091C>T
- NM_001407678.1:c.1091C>T
- NM_001407679.1:c.1091C>T
- NM_001407680.1:c.1091C>T
- NM_001407681.1:c.1091C>T
- NM_001407682.1:c.1091C>T
- NM_001407683.1:c.1091C>T
- NM_001407684.1:c.1214C>T
- NM_001407685.1:c.1088C>T
- NM_001407686.1:c.1088C>T
- NM_001407687.1:c.1088C>T
- NM_001407688.1:c.1088C>T
- NM_001407689.1:c.1088C>T
- NM_001407690.1:c.1088C>T
- NM_001407691.1:c.1088C>T
- NM_001407692.1:c.1073C>T
- NM_001407694.1:c.1073C>T
- NM_001407695.1:c.1073C>T
- NM_001407696.1:c.1073C>T
- NM_001407697.1:c.1073C>T
- NM_001407698.1:c.1073C>T
- NM_001407724.1:c.1073C>T
- NM_001407725.1:c.1073C>T
- NM_001407726.1:c.1073C>T
- NM_001407727.1:c.1073C>T
- NM_001407728.1:c.1073C>T
- NM_001407729.1:c.1073C>T
- NM_001407730.1:c.1073C>T
- NM_001407731.1:c.1073C>T
- NM_001407732.1:c.1073C>T
- NM_001407733.1:c.1073C>T
- NM_001407734.1:c.1073C>T
- NM_001407735.1:c.1073C>T
- NM_001407736.1:c.1073C>T
- NM_001407737.1:c.1073C>T
- NM_001407738.1:c.1073C>T
- NM_001407739.1:c.1073C>T
- NM_001407740.1:c.1070C>T
- NM_001407741.1:c.1070C>T
- NM_001407742.1:c.1070C>T
- NM_001407743.1:c.1070C>T
- NM_001407744.1:c.1070C>T
- NM_001407745.1:c.1070C>T
- NM_001407746.1:c.1070C>T
- NM_001407747.1:c.1070C>T
- NM_001407748.1:c.1070C>T
- NM_001407749.1:c.1070C>T
- NM_001407750.1:c.1073C>T
- NM_001407751.1:c.1073C>T
- NM_001407752.1:c.1073C>T
- NM_001407838.1:c.1070C>T
- NM_001407839.1:c.1070C>T
- NM_001407841.1:c.1070C>T
- NM_001407842.1:c.1070C>T
- NM_001407843.1:c.1070C>T
- NM_001407844.1:c.1070C>T
- NM_001407845.1:c.1070C>T
- NM_001407846.1:c.1070C>T
- NM_001407847.1:c.1070C>T
- NM_001407848.1:c.1070C>T
- NM_001407849.1:c.1070C>T
- NM_001407850.1:c.1073C>T
- NM_001407851.1:c.1073C>T
- NM_001407852.1:c.1073C>T
- NM_001407853.1:c.1001C>T
- NM_001407854.1:c.1214C>T
- NM_001407858.1:c.1214C>T
- NM_001407859.1:c.1214C>T
- NM_001407860.1:c.1211C>T
- NM_001407861.1:c.1211C>T
- NM_001407862.1:c.1013C>T
- NM_001407863.1:c.1091C>T
- NM_001407874.1:c.1010C>T
- NM_001407875.1:c.1010C>T
- NM_001407879.1:c.1004C>T
- NM_001407881.1:c.1004C>T
- NM_001407882.1:c.1004C>T
- NM_001407884.1:c.1004C>T
- NM_001407885.1:c.1004C>T
- NM_001407886.1:c.1004C>T
- NM_001407887.1:c.1004C>T
- NM_001407889.1:c.1004C>T
- NM_001407894.1:c.1001C>T
- NM_001407895.1:c.1001C>T
- NM_001407896.1:c.1001C>T
- NM_001407897.1:c.1001C>T
- NM_001407898.1:c.1001C>T
- NM_001407899.1:c.1001C>T
- NM_001407900.1:c.1004C>T
- NM_001407902.1:c.1004C>T
- NM_001407904.1:c.1004C>T
- NM_001407906.1:c.1004C>T
- NM_001407907.1:c.1004C>T
- NM_001407908.1:c.1004C>T
- NM_001407909.1:c.1004C>T
- NM_001407910.1:c.1004C>T
- NM_001407915.1:c.1001C>T
- NM_001407916.1:c.1001C>T
- NM_001407917.1:c.1001C>T
- NM_001407918.1:c.1001C>T
- NM_001407919.1:c.1091C>T
- NM_001407920.1:c.950C>T
- NM_001407921.1:c.950C>T
- NM_001407922.1:c.950C>T
- NM_001407923.1:c.950C>T
- NM_001407924.1:c.950C>T
- NM_001407925.1:c.950C>T
- NM_001407926.1:c.950C>T
- NM_001407927.1:c.950C>T
- NM_001407928.1:c.950C>T
- NM_001407929.1:c.950C>T
- NM_001407930.1:c.947C>T
- NM_001407931.1:c.947C>T
- NM_001407932.1:c.947C>T
- NM_001407933.1:c.950C>T
- NM_001407934.1:c.947C>T
- NM_001407935.1:c.950C>T
- NM_001407936.1:c.947C>T
- NM_001407937.1:c.1091C>T
- NM_001407938.1:c.1091C>T
- NM_001407939.1:c.1091C>T
- NM_001407940.1:c.1088C>T
- NM_001407941.1:c.1088C>T
- NM_001407942.1:c.1073C>T
- NM_001407943.1:c.1070C>T
- NM_001407944.1:c.1073C>T
- NM_001407945.1:c.1073C>T
- NM_001407946.1:c.881C>T
- NM_001407947.1:c.881C>T
- NM_001407948.1:c.881C>T
- NM_001407949.1:c.881C>T
- NM_001407950.1:c.881C>T
- NM_001407951.1:c.881C>T
- NM_001407952.1:c.881C>T
- NM_001407953.1:c.881C>T
- NM_001407954.1:c.878C>T
- NM_001407955.1:c.878C>T
- NM_001407956.1:c.878C>T
- NM_001407957.1:c.881C>T
- NM_001407958.1:c.878C>T
- NM_001407959.1:c.833C>T
- NM_001407960.1:c.833C>T
- NM_001407962.1:c.830C>T
- NM_001407963.1:c.833C>T
- NM_001407964.1:c.1070C>T
- NM_001407965.1:c.710C>T
- NM_001407966.1:c.326C>T
- NM_001407967.1:c.326C>T
- NM_001407968.1:c.787+427C>T
- NM_001407969.1:c.787+427C>T
- NM_001407970.1:c.787+427C>T
- NM_001407971.1:c.787+427C>T
- NM_001407972.1:c.784+427C>T
- NM_001407973.1:c.787+427C>T
- NM_001407974.1:c.787+427C>T
- NM_001407975.1:c.787+427C>T
- NM_001407976.1:c.787+427C>T
- NM_001407977.1:c.787+427C>T
- NM_001407978.1:c.787+427C>T
- NM_001407979.1:c.787+427C>T
- NM_001407980.1:c.787+427C>T
- NM_001407981.1:c.787+427C>T
- NM_001407982.1:c.787+427C>T
- NM_001407983.1:c.787+427C>T
- NM_001407984.1:c.784+427C>T
- NM_001407985.1:c.784+427C>T
- NM_001407986.1:c.784+427C>T
- NM_001407990.1:c.787+427C>T
- NM_001407991.1:c.784+427C>T
- NM_001407992.1:c.784+427C>T
- NM_001407993.1:c.787+427C>T
- NM_001408392.1:c.784+427C>T
- NM_001408396.1:c.784+427C>T
- NM_001408397.1:c.784+427C>T
- NM_001408398.1:c.784+427C>T
- NM_001408399.1:c.784+427C>T
- NM_001408400.1:c.784+427C>T
- NM_001408401.1:c.784+427C>T
- NM_001408402.1:c.784+427C>T
- NM_001408403.1:c.787+427C>T
- NM_001408404.1:c.787+427C>T
- NM_001408406.1:c.790+424C>T
- NM_001408407.1:c.784+427C>T
- NM_001408408.1:c.778+427C>T
- NM_001408409.1:c.709+427C>T
- NM_001408410.1:c.646+427C>T
- NM_001408411.1:c.709+427C>T
- NM_001408412.1:c.709+427C>T
- NM_001408413.1:c.706+427C>T
- NM_001408414.1:c.709+427C>T
- NM_001408415.1:c.709+427C>T
- NM_001408416.1:c.706+427C>T
- NM_001408418.1:c.670+1529C>T
- NM_001408419.1:c.670+1529C>T
- NM_001408420.1:c.670+1529C>T
- NM_001408421.1:c.667+1529C>T
- NM_001408422.1:c.670+1529C>T
- NM_001408423.1:c.670+1529C>T
- NM_001408424.1:c.667+1529C>T
- NM_001408425.1:c.664+427C>T
- NM_001408426.1:c.664+427C>T
- NM_001408427.1:c.664+427C>T
- NM_001408428.1:c.664+427C>T
- NM_001408429.1:c.664+427C>T
- NM_001408430.1:c.664+427C>T
- NM_001408431.1:c.667+1529C>T
- NM_001408432.1:c.661+427C>T
- NM_001408433.1:c.661+427C>T
- NM_001408434.1:c.661+427C>T
- NM_001408435.1:c.661+427C>T
- NM_001408436.1:c.664+427C>T
- NM_001408437.1:c.664+427C>T
- NM_001408438.1:c.664+427C>T
- NM_001408439.1:c.664+427C>T
- NM_001408440.1:c.664+427C>T
- NM_001408441.1:c.664+427C>T
- NM_001408442.1:c.664+427C>T
- NM_001408443.1:c.664+427C>T
- NM_001408444.1:c.664+427C>T
- NM_001408445.1:c.661+427C>T
- NM_001408446.1:c.661+427C>T
- NM_001408447.1:c.661+427C>T
- NM_001408448.1:c.661+427C>T
- NM_001408450.1:c.661+427C>T
- NM_001408451.1:c.652+427C>T
- NM_001408452.1:c.646+427C>T
- NM_001408453.1:c.646+427C>T
- NM_001408454.1:c.646+427C>T
- NM_001408455.1:c.646+427C>T
- NM_001408456.1:c.646+427C>T
- NM_001408457.1:c.646+427C>T
- NM_001408458.1:c.646+427C>T
- NM_001408459.1:c.646+427C>T
- NM_001408460.1:c.646+427C>T
- NM_001408461.1:c.646+427C>T
- NM_001408462.1:c.643+427C>T
- NM_001408463.1:c.643+427C>T
- NM_001408464.1:c.643+427C>T
- NM_001408465.1:c.643+427C>T
- NM_001408466.1:c.646+427C>T
- NM_001408467.1:c.646+427C>T
- NM_001408468.1:c.643+427C>T
- NM_001408469.1:c.646+427C>T
- NM_001408470.1:c.643+427C>T
- NM_001408472.1:c.787+427C>T
- NM_001408473.1:c.784+427C>T
- NM_001408474.1:c.586+427C>T
- NM_001408475.1:c.583+427C>T
- NM_001408476.1:c.586+427C>T
- NM_001408478.1:c.577+427C>T
- NM_001408479.1:c.577+427C>T
- NM_001408480.1:c.577+427C>T
- NM_001408481.1:c.577+427C>T
- NM_001408482.1:c.577+427C>T
- NM_001408483.1:c.577+427C>T
- NM_001408484.1:c.577+427C>T
- NM_001408485.1:c.577+427C>T
- NM_001408489.1:c.577+427C>T
- NM_001408490.1:c.574+427C>T
- NM_001408491.1:c.574+427C>T
- NM_001408492.1:c.577+427C>T
- NM_001408493.1:c.574+427C>T
- NM_001408494.1:c.548-3285C>T
- NM_001408495.1:c.545-3285C>T
- NM_001408496.1:c.523+427C>T
- NM_001408497.1:c.523+427C>T
- NM_001408498.1:c.523+427C>T
- NM_001408499.1:c.523+427C>T
- NM_001408500.1:c.523+427C>T
- NM_001408501.1:c.523+427C>T
- NM_001408502.1:c.454+427C>T
- NM_001408503.1:c.520+427C>T
- NM_001408504.1:c.520+427C>T
- NM_001408505.1:c.520+427C>T
- NM_001408506.1:c.460+1529C>T
- NM_001408507.1:c.460+1529C>T
- NM_001408508.1:c.451+427C>T
- NM_001408509.1:c.451+427C>T
- NM_001408510.1:c.406+427C>T
- NM_001408511.1:c.404-3285C>T
- NM_001408512.1:c.283+427C>T
- NM_001408513.1:c.577+427C>T
- NM_001408514.1:c.577+427C>T
- NM_007294.4:c.1214C>TMANE SELECT
- NM_007297.4:c.1073C>T
- NM_007298.4:c.787+427C>T
- NM_007299.4:c.787+427C>T
- NM_007300.4:c.1214C>T
- NP_001394500.1:p.Ser334Leu
- NP_001394510.1:p.Ser405Leu
- NP_001394511.1:p.Ser405Leu
- NP_001394512.1:p.Ser405Leu
- NP_001394514.1:p.Ser405Leu
- NP_001394516.1:p.Ser404Leu
- NP_001394519.1:p.Ser404Leu
- NP_001394520.1:p.Ser404Leu
- NP_001394522.1:p.Ser405Leu
- NP_001394523.1:p.Ser405Leu
- NP_001394525.1:p.Ser405Leu
- NP_001394526.1:p.Ser405Leu
- NP_001394527.1:p.Ser405Leu
- NP_001394531.1:p.Ser405Leu
- NP_001394532.1:p.Ser405Leu
- NP_001394534.1:p.Ser405Leu
- NP_001394539.1:p.Ser404Leu
- NP_001394540.1:p.Ser404Leu
- NP_001394541.1:p.Ser404Leu
- NP_001394542.1:p.Ser404Leu
- NP_001394543.1:p.Ser404Leu
- NP_001394544.1:p.Ser404Leu
- NP_001394545.1:p.Ser405Leu
- NP_001394546.1:p.Ser405Leu
- NP_001394547.1:p.Ser405Leu
- NP_001394548.1:p.Ser405Leu
- NP_001394549.1:p.Ser405Leu
- NP_001394550.1:p.Ser405Leu
- NP_001394551.1:p.Ser405Leu
- NP_001394552.1:p.Ser405Leu
- NP_001394553.1:p.Ser405Leu
- NP_001394554.1:p.Ser405Leu
- NP_001394555.1:p.Ser405Leu
- NP_001394556.1:p.Ser404Leu
- NP_001394557.1:p.Ser404Leu
- NP_001394558.1:p.Ser404Leu
- NP_001394559.1:p.Ser404Leu
- NP_001394560.1:p.Ser404Leu
- NP_001394561.1:p.Ser404Leu
- NP_001394562.1:p.Ser404Leu
- NP_001394563.1:p.Ser404Leu
- NP_001394564.1:p.Ser404Leu
- NP_001394565.1:p.Ser404Leu
- NP_001394566.1:p.Ser404Leu
- NP_001394567.1:p.Ser404Leu
- NP_001394568.1:p.Ser405Leu
- NP_001394569.1:p.Ser405Leu
- NP_001394570.1:p.Ser405Leu
- NP_001394571.1:p.Ser405Leu
- NP_001394573.1:p.Ser404Leu
- NP_001394574.1:p.Ser404Leu
- NP_001394575.1:p.Ser402Leu
- NP_001394576.1:p.Ser402Leu
- NP_001394577.1:p.Ser364Leu
- NP_001394578.1:p.Ser363Leu
- NP_001394581.1:p.Ser405Leu
- NP_001394582.1:p.Ser379Leu
- NP_001394583.1:p.Ser379Leu
- NP_001394584.1:p.Ser379Leu
- NP_001394585.1:p.Ser379Leu
- NP_001394586.1:p.Ser379Leu
- NP_001394587.1:p.Ser379Leu
- NP_001394588.1:p.Ser378Leu
- NP_001394589.1:p.Ser378Leu
- NP_001394590.1:p.Ser378Leu
- NP_001394591.1:p.Ser378Leu
- NP_001394592.1:p.Ser379Leu
- NP_001394593.1:p.Ser364Leu
- NP_001394594.1:p.Ser364Leu
- NP_001394595.1:p.Ser364Leu
- NP_001394596.1:p.Ser364Leu
- NP_001394597.1:p.Ser364Leu
- NP_001394598.1:p.Ser364Leu
- NP_001394599.1:p.Ser363Leu
- NP_001394600.1:p.Ser363Leu
- NP_001394601.1:p.Ser363Leu
- NP_001394602.1:p.Ser363Leu
- NP_001394603.1:p.Ser364Leu
- NP_001394604.1:p.Ser364Leu
- NP_001394605.1:p.Ser364Leu
- NP_001394606.1:p.Ser364Leu
- NP_001394607.1:p.Ser364Leu
- NP_001394608.1:p.Ser364Leu
- NP_001394609.1:p.Ser364Leu
- NP_001394610.1:p.Ser364Leu
- NP_001394611.1:p.Ser364Leu
- NP_001394612.1:p.Ser364Leu
- NP_001394613.1:p.Ser405Leu
- NP_001394614.1:p.Ser363Leu
- NP_001394615.1:p.Ser363Leu
- NP_001394616.1:p.Ser363Leu
- NP_001394617.1:p.Ser363Leu
- NP_001394618.1:p.Ser363Leu
- NP_001394619.1:p.Ser363Leu
- NP_001394620.1:p.Ser363Leu
- NP_001394621.1:p.Ser358Leu
- NP_001394623.1:p.Ser358Leu
- NP_001394624.1:p.Ser358Leu
- NP_001394625.1:p.Ser358Leu
- NP_001394626.1:p.Ser358Leu
- NP_001394627.1:p.Ser358Leu
- NP_001394653.1:p.Ser358Leu
- NP_001394654.1:p.Ser358Leu
- NP_001394655.1:p.Ser358Leu
- NP_001394656.1:p.Ser358Leu
- NP_001394657.1:p.Ser358Leu
- NP_001394658.1:p.Ser358Leu
- NP_001394659.1:p.Ser358Leu
- NP_001394660.1:p.Ser358Leu
- NP_001394661.1:p.Ser358Leu
- NP_001394662.1:p.Ser358Leu
- NP_001394663.1:p.Ser358Leu
- NP_001394664.1:p.Ser358Leu
- NP_001394665.1:p.Ser358Leu
- NP_001394666.1:p.Ser358Leu
- NP_001394667.1:p.Ser358Leu
- NP_001394668.1:p.Ser358Leu
- NP_001394669.1:p.Ser357Leu
- NP_001394670.1:p.Ser357Leu
- NP_001394671.1:p.Ser357Leu
- NP_001394672.1:p.Ser357Leu
- NP_001394673.1:p.Ser357Leu
- NP_001394674.1:p.Ser357Leu
- NP_001394675.1:p.Ser357Leu
- NP_001394676.1:p.Ser357Leu
- NP_001394677.1:p.Ser357Leu
- NP_001394678.1:p.Ser357Leu
- NP_001394679.1:p.Ser358Leu
- NP_001394680.1:p.Ser358Leu
- NP_001394681.1:p.Ser358Leu
- NP_001394767.1:p.Ser357Leu
- NP_001394768.1:p.Ser357Leu
- NP_001394770.1:p.Ser357Leu
- NP_001394771.1:p.Ser357Leu
- NP_001394772.1:p.Ser357Leu
- NP_001394773.1:p.Ser357Leu
- NP_001394774.1:p.Ser357Leu
- NP_001394775.1:p.Ser357Leu
- NP_001394776.1:p.Ser357Leu
- NP_001394777.1:p.Ser357Leu
- NP_001394778.1:p.Ser357Leu
- NP_001394779.1:p.Ser358Leu
- NP_001394780.1:p.Ser358Leu
- NP_001394781.1:p.Ser358Leu
- NP_001394782.1:p.Ser334Leu
- NP_001394783.1:p.Ser405Leu
- NP_001394787.1:p.Ser405Leu
- NP_001394788.1:p.Ser405Leu
- NP_001394789.1:p.Ser404Leu
- NP_001394790.1:p.Ser404Leu
- NP_001394791.1:p.Ser338Leu
- NP_001394792.1:p.Ser364Leu
- NP_001394803.1:p.Ser337Leu
- NP_001394804.1:p.Ser337Leu
- NP_001394808.1:p.Ser335Leu
- NP_001394810.1:p.Ser335Leu
- NP_001394811.1:p.Ser335Leu
- NP_001394813.1:p.Ser335Leu
- NP_001394814.1:p.Ser335Leu
- NP_001394815.1:p.Ser335Leu
- NP_001394816.1:p.Ser335Leu
- NP_001394818.1:p.Ser335Leu
- NP_001394823.1:p.Ser334Leu
- NP_001394824.1:p.Ser334Leu
- NP_001394825.1:p.Ser334Leu
- NP_001394826.1:p.Ser334Leu
- NP_001394827.1:p.Ser334Leu
- NP_001394828.1:p.Ser334Leu
- NP_001394829.1:p.Ser335Leu
- NP_001394831.1:p.Ser335Leu
- NP_001394833.1:p.Ser335Leu
- NP_001394835.1:p.Ser335Leu
- NP_001394836.1:p.Ser335Leu
- NP_001394837.1:p.Ser335Leu
- NP_001394838.1:p.Ser335Leu
- NP_001394839.1:p.Ser335Leu
- NP_001394844.1:p.Ser334Leu
- NP_001394845.1:p.Ser334Leu
- NP_001394846.1:p.Ser334Leu
- NP_001394847.1:p.Ser334Leu
- NP_001394848.1:p.Ser364Leu
- NP_001394849.1:p.Ser317Leu
- NP_001394850.1:p.Ser317Leu
- NP_001394851.1:p.Ser317Leu
- NP_001394852.1:p.Ser317Leu
- NP_001394853.1:p.Ser317Leu
- NP_001394854.1:p.Ser317Leu
- NP_001394855.1:p.Ser317Leu
- NP_001394856.1:p.Ser317Leu
- NP_001394857.1:p.Ser317Leu
- NP_001394858.1:p.Ser317Leu
- NP_001394859.1:p.Ser316Leu
- NP_001394860.1:p.Ser316Leu
- NP_001394861.1:p.Ser316Leu
- NP_001394862.1:p.Ser317Leu
- NP_001394863.1:p.Ser316Leu
- NP_001394864.1:p.Ser317Leu
- NP_001394865.1:p.Ser316Leu
- NP_001394866.1:p.Ser364Leu
- NP_001394867.1:p.Ser364Leu
- NP_001394868.1:p.Ser364Leu
- NP_001394869.1:p.Ser363Leu
- NP_001394870.1:p.Ser363Leu
- NP_001394871.1:p.Ser358Leu
- NP_001394872.1:p.Ser357Leu
- NP_001394873.1:p.Ser358Leu
- NP_001394874.1:p.Ser358Leu
- NP_001394875.1:p.Ser294Leu
- NP_001394876.1:p.Ser294Leu
- NP_001394877.1:p.Ser294Leu
- NP_001394878.1:p.Ser294Leu
- NP_001394879.1:p.Ser294Leu
- NP_001394880.1:p.Ser294Leu
- NP_001394881.1:p.Ser294Leu
- NP_001394882.1:p.Ser294Leu
- NP_001394883.1:p.Ser293Leu
- NP_001394884.1:p.Ser293Leu
- NP_001394885.1:p.Ser293Leu
- NP_001394886.1:p.Ser294Leu
- NP_001394887.1:p.Ser293Leu
- NP_001394888.1:p.Ser278Leu
- NP_001394889.1:p.Ser278Leu
- NP_001394891.1:p.Ser277Leu
- NP_001394892.1:p.Ser278Leu
- NP_001394893.1:p.Ser357Leu
- NP_001394894.1:p.Ser237Leu
- NP_001394895.1:p.Ser109Leu
- NP_001394896.1:p.Ser109Leu
- NP_009225.1:p.Ser405Leu
- NP_009225.1:p.Ser405Leu
- NP_009228.2:p.Ser358Leu
- NP_009231.2:p.Ser405Leu
- LRG_292t1:c.1214C>T
- LRG_292:g.123667C>T
- LRG_292p1:p.Ser405Leu
- NC_000017.10:g.41246334G>A
- NM_007294.3:c.1214C>T
- NR_027676.1:n.1350C>T
This HGVS expression did not pass validation- Protein change:
- S109L
- Molecular consequence:
- NM_001407968.1:c.787+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407969.1:c.787+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407970.1:c.787+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407971.1:c.787+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407972.1:c.784+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407973.1:c.787+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407974.1:c.787+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407975.1:c.787+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407976.1:c.787+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407977.1:c.787+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407978.1:c.787+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407979.1:c.787+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407980.1:c.787+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407981.1:c.787+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407982.1:c.787+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407983.1:c.787+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407984.1:c.784+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407985.1:c.784+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407986.1:c.784+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407990.1:c.787+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407991.1:c.784+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407992.1:c.784+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407993.1:c.787+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408392.1:c.784+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408396.1:c.784+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408397.1:c.784+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408398.1:c.784+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408399.1:c.784+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408400.1:c.784+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408401.1:c.784+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408402.1:c.784+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408403.1:c.787+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408404.1:c.787+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408406.1:c.790+424C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408407.1:c.784+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408408.1:c.778+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408409.1:c.709+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408410.1:c.646+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408411.1:c.709+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408412.1:c.709+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408413.1:c.706+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408414.1:c.709+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408415.1:c.709+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408416.1:c.706+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408418.1:c.670+1529C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408419.1:c.670+1529C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408420.1:c.670+1529C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408421.1:c.667+1529C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408422.1:c.670+1529C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408423.1:c.670+1529C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408424.1:c.667+1529C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408425.1:c.664+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408426.1:c.664+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408427.1:c.664+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408428.1:c.664+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408429.1:c.664+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408430.1:c.664+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408431.1:c.667+1529C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408432.1:c.661+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408433.1:c.661+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408434.1:c.661+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408435.1:c.661+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408436.1:c.664+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408437.1:c.664+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408438.1:c.664+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408439.1:c.664+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408440.1:c.664+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408441.1:c.664+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408442.1:c.664+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408443.1:c.664+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408444.1:c.664+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408445.1:c.661+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408446.1:c.661+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408447.1:c.661+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408448.1:c.661+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408450.1:c.661+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408451.1:c.652+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408452.1:c.646+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408453.1:c.646+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408454.1:c.646+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408455.1:c.646+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408456.1:c.646+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408457.1:c.646+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408458.1:c.646+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408459.1:c.646+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408460.1:c.646+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408461.1:c.646+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408462.1:c.643+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408463.1:c.643+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408464.1:c.643+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408465.1:c.643+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408466.1:c.646+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408467.1:c.646+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408468.1:c.643+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408469.1:c.646+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408470.1:c.643+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408472.1:c.787+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408473.1:c.784+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408474.1:c.586+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408475.1:c.583+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408476.1:c.586+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408478.1:c.577+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408479.1:c.577+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408480.1:c.577+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408481.1:c.577+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408482.1:c.577+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408483.1:c.577+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408484.1:c.577+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408485.1:c.577+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408489.1:c.577+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408490.1:c.574+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408491.1:c.574+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408492.1:c.577+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408493.1:c.574+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408494.1:c.548-3285C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408495.1:c.545-3285C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408496.1:c.523+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408497.1:c.523+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408498.1:c.523+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408499.1:c.523+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408500.1:c.523+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408501.1:c.523+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408502.1:c.454+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408503.1:c.520+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408504.1:c.520+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408505.1:c.520+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408506.1:c.460+1529C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408507.1:c.460+1529C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408508.1:c.451+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408509.1:c.451+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408510.1:c.406+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408511.1:c.404-3285C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408512.1:c.283+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408513.1:c.577+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001408514.1:c.577+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_007298.4:c.787+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_007299.4:c.787+427C>T - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407571.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.1205C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.1205C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.1088C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.1136C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.1136C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.1136C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.1136C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.1136C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.1136C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.1133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.1133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.1133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.1133C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.1136C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.1088C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.1088C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.1088C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.1088C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.1088C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.1088C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.1088C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.1088C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.1088C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.1088C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.1088C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.1211C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.1013C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.1010C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.1010C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.1004C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.1004C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.1004C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.1004C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.1004C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.1004C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.1004C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.1004C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.1004C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.1004C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.1004C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.1004C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.1004C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.1004C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.1004C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.1004C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.1001C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.950C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.950C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.950C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.950C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.950C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.950C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.950C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.950C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.950C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.950C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.947C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.947C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.947C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.950C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.947C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.950C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.947C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.1091C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.1088C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.1088C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.881C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.881C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.881C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.881C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.881C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.881C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.881C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.881C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.881C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.878C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.833C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.833C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.830C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.833C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.710C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.326C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.326C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.1214C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.1073C>T - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.1214C>T - 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
-
Accelerated skeletal maturation
Accelerated skeletal maturationMedGen
-
C0545053[conceptid] (1)
MedGen
-
AL632843 XGC-gastrula Xenopus tropicalis cDNA clone TGas020e02 5', mRNA sequence
AL632843 XGC-gastrula Xenopus tropicalis cDNA clone TGas020e02 5', mRNA sequencegi|16602326|gnl|dbEST|10111044|emb| 843.1|Nucleotide
-
AGENCOURT_18144176 XtSt10-30 Xenopus tropicalis cDNA clone IMAGE:7094597 5', mRN...
AGENCOURT_18144176 XtSt10-30 Xenopus tropicalis cDNA clone IMAGE:7094597 5', mRNA sequencegi|41621943|gnl|dbEST|21502387|gb|C 42.1|Nucleotide
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See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV003846096 | 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 | |
SCV004361071 | Color Diagnostics, LLC DBA Color Health | criteria provided, single submitter (ACMG Guidelines, 2015) | Uncertain significance (Sep 30, 2021) | 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 | curation, clinical testing |
Citations
PubMed
Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".
Dines JN, Shirts BH, Slavin TP, Walsh T, King MC, Fowler DM, Pritchard CC.
Genet Med. 2020 May;22(5):825-830. doi: 10.1038/s41436-019-0740-6. Epub 2020 Jan 8.
- PMID:
- 31911673
- PMCID:
- PMC7200594
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
- PMID:
- 25741868
- PMCID:
- PMC4544753
Details of each submission
From University of Washington Department of Laboratory Medicine, University of Washington, SCV003846096.1
# | 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 |
From Color Diagnostics, LLC DBA Color Health, SCV004361071.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
This missense variant replaces serine with leucine at codon 405 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 not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified 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 |
Last Updated: Jul 15, 2024