NM_007294.4(BRCA1):c.707C>G (p.Thr236Ser) 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:
- RCV000214304.8
Allele description [Variation Report for NM_007294.4(BRCA1):c.707C>G (p.Thr236Ser)]
NM_007294.4(BRCA1):c.707C>G (p.Thr236Ser)
- 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.707C>G (p.Thr236Ser)
- HGVS:
- NC_000017.11:g.43094824G>C
- NG_005905.2:g.123160C>G
- NM_001407571.1:c.494C>G
- NM_001407581.1:c.707C>G
- NM_001407582.1:c.707C>G
- NM_001407583.1:c.707C>G
- NM_001407585.1:c.707C>G
- NM_001407587.1:c.704C>G
- NM_001407590.1:c.704C>G
- NM_001407591.1:c.704C>G
- NM_001407593.1:c.707C>G
- NM_001407594.1:c.707C>G
- NM_001407596.1:c.707C>G
- NM_001407597.1:c.707C>G
- NM_001407598.1:c.707C>G
- NM_001407602.1:c.707C>G
- NM_001407603.1:c.707C>G
- NM_001407605.1:c.707C>G
- NM_001407610.1:c.704C>G
- NM_001407611.1:c.704C>G
- NM_001407612.1:c.704C>G
- NM_001407613.1:c.704C>G
- NM_001407614.1:c.704C>G
- NM_001407615.1:c.704C>G
- NM_001407616.1:c.707C>G
- NM_001407617.1:c.707C>G
- NM_001407618.1:c.707C>G
- NM_001407619.1:c.707C>G
- NM_001407620.1:c.707C>G
- NM_001407621.1:c.707C>G
- NM_001407622.1:c.707C>G
- NM_001407623.1:c.707C>G
- NM_001407624.1:c.707C>G
- NM_001407625.1:c.707C>G
- NM_001407626.1:c.707C>G
- NM_001407627.1:c.704C>G
- NM_001407628.1:c.704C>G
- NM_001407629.1:c.704C>G
- NM_001407630.1:c.704C>G
- NM_001407631.1:c.704C>G
- NM_001407632.1:c.704C>G
- NM_001407633.1:c.704C>G
- NM_001407634.1:c.704C>G
- NM_001407635.1:c.704C>G
- NM_001407636.1:c.704C>G
- NM_001407637.1:c.704C>G
- NM_001407638.1:c.704C>G
- NM_001407639.1:c.707C>G
- NM_001407640.1:c.707C>G
- NM_001407641.1:c.707C>G
- NM_001407642.1:c.707C>G
- NM_001407644.1:c.704C>G
- NM_001407645.1:c.704C>G
- NM_001407646.1:c.698C>G
- NM_001407647.1:c.698C>G
- NM_001407648.1:c.584C>G
- NM_001407649.1:c.581C>G
- NM_001407652.1:c.707C>G
- NM_001407653.1:c.629C>G
- NM_001407654.1:c.629C>G
- NM_001407655.1:c.629C>G
- NM_001407656.1:c.629C>G
- NM_001407657.1:c.629C>G
- NM_001407658.1:c.629C>G
- NM_001407659.1:c.626C>G
- NM_001407660.1:c.626C>G
- NM_001407661.1:c.626C>G
- NM_001407662.1:c.626C>G
- NM_001407663.1:c.629C>G
- NM_001407664.1:c.584C>G
- NM_001407665.1:c.584C>G
- NM_001407666.1:c.584C>G
- NM_001407667.1:c.584C>G
- NM_001407668.1:c.584C>G
- NM_001407669.1:c.584C>G
- NM_001407670.1:c.581C>G
- NM_001407671.1:c.581C>G
- NM_001407672.1:c.581C>G
- NM_001407673.1:c.581C>G
- NM_001407674.1:c.584C>G
- NM_001407675.1:c.584C>G
- NM_001407676.1:c.584C>G
- NM_001407677.1:c.584C>G
- NM_001407678.1:c.584C>G
- NM_001407679.1:c.584C>G
- NM_001407680.1:c.584C>G
- NM_001407681.1:c.584C>G
- NM_001407682.1:c.584C>G
- NM_001407683.1:c.584C>G
- NM_001407684.1:c.707C>G
- NM_001407685.1:c.581C>G
- NM_001407686.1:c.581C>G
- NM_001407687.1:c.581C>G
- NM_001407688.1:c.581C>G
- NM_001407689.1:c.581C>G
- NM_001407690.1:c.581C>G
- NM_001407691.1:c.581C>G
- NM_001407692.1:c.566C>G
- NM_001407694.1:c.566C>G
- NM_001407695.1:c.566C>G
- NM_001407696.1:c.566C>G
- NM_001407697.1:c.566C>G
- NM_001407698.1:c.566C>G
- NM_001407724.1:c.566C>G
- NM_001407725.1:c.566C>G
- NM_001407726.1:c.566C>G
- NM_001407727.1:c.566C>G
- NM_001407728.1:c.566C>G
- NM_001407729.1:c.566C>G
- NM_001407730.1:c.566C>G
- NM_001407731.1:c.566C>G
- NM_001407732.1:c.566C>G
- NM_001407733.1:c.566C>G
- NM_001407734.1:c.566C>G
- NM_001407735.1:c.566C>G
- NM_001407736.1:c.566C>G
- NM_001407737.1:c.566C>G
- NM_001407738.1:c.566C>G
- NM_001407739.1:c.566C>G
- NM_001407740.1:c.563C>G
- NM_001407741.1:c.563C>G
- NM_001407742.1:c.563C>G
- NM_001407743.1:c.563C>G
- NM_001407744.1:c.563C>G
- NM_001407745.1:c.563C>G
- NM_001407746.1:c.563C>G
- NM_001407747.1:c.563C>G
- NM_001407748.1:c.563C>G
- NM_001407749.1:c.563C>G
- NM_001407750.1:c.566C>G
- NM_001407751.1:c.566C>G
- NM_001407752.1:c.566C>G
- NM_001407838.1:c.563C>G
- NM_001407839.1:c.563C>G
- NM_001407841.1:c.563C>G
- NM_001407842.1:c.563C>G
- NM_001407843.1:c.563C>G
- NM_001407844.1:c.563C>G
- NM_001407845.1:c.563C>G
- NM_001407846.1:c.563C>G
- NM_001407847.1:c.563C>G
- NM_001407848.1:c.563C>G
- NM_001407849.1:c.563C>G
- NM_001407850.1:c.566C>G
- NM_001407851.1:c.566C>G
- NM_001407852.1:c.566C>G
- NM_001407853.1:c.494C>G
- NM_001407854.1:c.707C>G
- NM_001407858.1:c.707C>G
- NM_001407859.1:c.707C>G
- NM_001407860.1:c.704C>G
- NM_001407861.1:c.704C>G
- NM_001407862.1:c.506C>G
- NM_001407863.1:c.584C>G
- NM_001407874.1:c.503C>G
- NM_001407875.1:c.503C>G
- NM_001407879.1:c.497C>G
- NM_001407881.1:c.497C>G
- NM_001407882.1:c.497C>G
- NM_001407884.1:c.497C>G
- NM_001407885.1:c.497C>G
- NM_001407886.1:c.497C>G
- NM_001407887.1:c.497C>G
- NM_001407889.1:c.497C>G
- NM_001407894.1:c.494C>G
- NM_001407895.1:c.494C>G
- NM_001407896.1:c.494C>G
- NM_001407897.1:c.494C>G
- NM_001407898.1:c.494C>G
- NM_001407899.1:c.494C>G
- NM_001407900.1:c.497C>G
- NM_001407902.1:c.497C>G
- NM_001407904.1:c.497C>G
- NM_001407906.1:c.497C>G
- NM_001407907.1:c.497C>G
- NM_001407908.1:c.497C>G
- NM_001407909.1:c.497C>G
- NM_001407910.1:c.497C>G
- NM_001407915.1:c.494C>G
- NM_001407916.1:c.494C>G
- NM_001407917.1:c.494C>G
- NM_001407918.1:c.494C>G
- NM_001407919.1:c.584C>G
- NM_001407920.1:c.443C>G
- NM_001407921.1:c.443C>G
- NM_001407922.1:c.443C>G
- NM_001407923.1:c.443C>G
- NM_001407924.1:c.443C>G
- NM_001407925.1:c.443C>G
- NM_001407926.1:c.443C>G
- NM_001407927.1:c.443C>G
- NM_001407928.1:c.443C>G
- NM_001407929.1:c.443C>G
- NM_001407930.1:c.440C>G
- NM_001407931.1:c.440C>G
- NM_001407932.1:c.440C>G
- NM_001407933.1:c.443C>G
- NM_001407934.1:c.440C>G
- NM_001407935.1:c.443C>G
- NM_001407936.1:c.440C>G
- NM_001407937.1:c.584C>G
- NM_001407938.1:c.584C>G
- NM_001407939.1:c.584C>G
- NM_001407940.1:c.581C>G
- NM_001407941.1:c.581C>G
- NM_001407942.1:c.566C>G
- NM_001407943.1:c.563C>G
- NM_001407944.1:c.566C>G
- NM_001407945.1:c.566C>G
- NM_001407946.1:c.374C>G
- NM_001407947.1:c.374C>G
- NM_001407948.1:c.374C>G
- NM_001407949.1:c.374C>G
- NM_001407950.1:c.374C>G
- NM_001407951.1:c.374C>G
- NM_001407952.1:c.374C>G
- NM_001407953.1:c.374C>G
- NM_001407954.1:c.371C>G
- NM_001407955.1:c.371C>G
- NM_001407956.1:c.371C>G
- NM_001407957.1:c.374C>G
- NM_001407958.1:c.371C>G
- NM_001407959.1:c.326C>G
- NM_001407960.1:c.326C>G
- NM_001407962.1:c.323C>G
- NM_001407963.1:c.326C>G
- NM_001407964.1:c.563C>G
- NM_001407965.1:c.203C>G
- NM_001407966.1:c.-182C>G
- NM_001407967.1:c.-182C>G
- NM_001407968.1:c.707C>G
- NM_001407969.1:c.707C>G
- NM_001407970.1:c.707C>G
- NM_001407971.1:c.707C>G
- NM_001407972.1:c.704C>G
- NM_001407973.1:c.707C>G
- NM_001407974.1:c.707C>G
- NM_001407975.1:c.707C>G
- NM_001407976.1:c.707C>G
- NM_001407977.1:c.707C>G
- NM_001407978.1:c.707C>G
- NM_001407979.1:c.707C>G
- NM_001407980.1:c.707C>G
- NM_001407981.1:c.707C>G
- NM_001407982.1:c.707C>G
- NM_001407983.1:c.707C>G
- NM_001407984.1:c.704C>G
- NM_001407985.1:c.704C>G
- NM_001407986.1:c.704C>G
- NM_001407990.1:c.707C>G
- NM_001407991.1:c.704C>G
- NM_001407992.1:c.704C>G
- NM_001407993.1:c.707C>G
- NM_001408392.1:c.704C>G
- NM_001408396.1:c.704C>G
- NM_001408397.1:c.704C>G
- NM_001408398.1:c.704C>G
- NM_001408399.1:c.704C>G
- NM_001408400.1:c.704C>G
- NM_001408401.1:c.704C>G
- NM_001408402.1:c.704C>G
- NM_001408403.1:c.707C>G
- NM_001408404.1:c.707C>G
- NM_001408406.1:c.707C>G
- NM_001408407.1:c.704C>G
- NM_001408408.1:c.698C>G
- NM_001408409.1:c.629C>G
- NM_001408410.1:c.566C>G
- NM_001408411.1:c.629C>G
- NM_001408412.1:c.629C>G
- NM_001408413.1:c.626C>G
- NM_001408414.1:c.629C>G
- NM_001408415.1:c.629C>G
- NM_001408416.1:c.626C>G
- NM_001408425.1:c.584C>G
- NM_001408426.1:c.584C>G
- NM_001408427.1:c.584C>G
- NM_001408428.1:c.584C>G
- NM_001408429.1:c.584C>G
- NM_001408430.1:c.584C>G
- NM_001408432.1:c.581C>G
- NM_001408433.1:c.581C>G
- NM_001408434.1:c.581C>G
- NM_001408435.1:c.581C>G
- NM_001408436.1:c.584C>G
- NM_001408437.1:c.584C>G
- NM_001408438.1:c.584C>G
- NM_001408439.1:c.584C>G
- NM_001408440.1:c.584C>G
- NM_001408441.1:c.584C>G
- NM_001408442.1:c.584C>G
- NM_001408443.1:c.584C>G
- NM_001408444.1:c.584C>G
- NM_001408445.1:c.581C>G
- NM_001408446.1:c.581C>G
- NM_001408447.1:c.581C>G
- NM_001408448.1:c.581C>G
- NM_001408450.1:c.581C>G
- NM_001408451.1:c.572C>G
- NM_001408452.1:c.566C>G
- NM_001408453.1:c.566C>G
- NM_001408454.1:c.566C>G
- NM_001408455.1:c.566C>G
- NM_001408456.1:c.566C>G
- NM_001408457.1:c.566C>G
- NM_001408458.1:c.566C>G
- NM_001408459.1:c.566C>G
- NM_001408460.1:c.566C>G
- NM_001408461.1:c.566C>G
- NM_001408462.1:c.563C>G
- NM_001408463.1:c.563C>G
- NM_001408464.1:c.563C>G
- NM_001408465.1:c.563C>G
- NM_001408466.1:c.566C>G
- NM_001408467.1:c.566C>G
- NM_001408468.1:c.563C>G
- NM_001408469.1:c.566C>G
- NM_001408470.1:c.563C>G
- NM_001408472.1:c.707C>G
- NM_001408473.1:c.704C>G
- NM_001408474.1:c.506C>G
- NM_001408475.1:c.503C>G
- NM_001408476.1:c.506C>G
- NM_001408478.1:c.497C>G
- NM_001408479.1:c.497C>G
- NM_001408480.1:c.497C>G
- NM_001408481.1:c.497C>G
- NM_001408482.1:c.497C>G
- NM_001408483.1:c.497C>G
- NM_001408484.1:c.497C>G
- NM_001408485.1:c.497C>G
- NM_001408489.1:c.497C>G
- NM_001408490.1:c.494C>G
- NM_001408491.1:c.494C>G
- NM_001408492.1:c.497C>G
- NM_001408493.1:c.494C>G
- NM_001408496.1:c.443C>G
- NM_001408497.1:c.443C>G
- NM_001408498.1:c.443C>G
- NM_001408499.1:c.443C>G
- NM_001408500.1:c.443C>G
- NM_001408501.1:c.443C>G
- NM_001408502.1:c.374C>G
- NM_001408503.1:c.440C>G
- NM_001408504.1:c.440C>G
- NM_001408505.1:c.440C>G
- NM_001408508.1:c.371C>G
- NM_001408509.1:c.371C>G
- NM_001408510.1:c.326C>G
- NM_001408512.1:c.203C>G
- NM_001408513.1:c.497C>G
- NM_001408514.1:c.497C>G
- NM_007294.4:c.707C>GMANE SELECT
- NM_007297.4:c.566C>G
- NM_007298.4:c.707C>G
- NM_007299.4:c.707C>G
- NM_007300.4:c.707C>G
- NM_007304.2:c.707C>G
- NP_001394500.1:p.Thr165Ser
- NP_001394510.1:p.Thr236Ser
- NP_001394511.1:p.Thr236Ser
- NP_001394512.1:p.Thr236Ser
- NP_001394514.1:p.Thr236Ser
- NP_001394516.1:p.Thr235Ser
- NP_001394519.1:p.Thr235Ser
- NP_001394520.1:p.Thr235Ser
- NP_001394522.1:p.Thr236Ser
- NP_001394523.1:p.Thr236Ser
- NP_001394525.1:p.Thr236Ser
- NP_001394526.1:p.Thr236Ser
- NP_001394527.1:p.Thr236Ser
- NP_001394531.1:p.Thr236Ser
- NP_001394532.1:p.Thr236Ser
- NP_001394534.1:p.Thr236Ser
- NP_001394539.1:p.Thr235Ser
- NP_001394540.1:p.Thr235Ser
- NP_001394541.1:p.Thr235Ser
- NP_001394542.1:p.Thr235Ser
- NP_001394543.1:p.Thr235Ser
- NP_001394544.1:p.Thr235Ser
- NP_001394545.1:p.Thr236Ser
- NP_001394546.1:p.Thr236Ser
- NP_001394547.1:p.Thr236Ser
- NP_001394548.1:p.Thr236Ser
- NP_001394549.1:p.Thr236Ser
- NP_001394550.1:p.Thr236Ser
- NP_001394551.1:p.Thr236Ser
- NP_001394552.1:p.Thr236Ser
- NP_001394553.1:p.Thr236Ser
- NP_001394554.1:p.Thr236Ser
- NP_001394555.1:p.Thr236Ser
- NP_001394556.1:p.Thr235Ser
- NP_001394557.1:p.Thr235Ser
- NP_001394558.1:p.Thr235Ser
- NP_001394559.1:p.Thr235Ser
- NP_001394560.1:p.Thr235Ser
- NP_001394561.1:p.Thr235Ser
- NP_001394562.1:p.Thr235Ser
- NP_001394563.1:p.Thr235Ser
- NP_001394564.1:p.Thr235Ser
- NP_001394565.1:p.Thr235Ser
- NP_001394566.1:p.Thr235Ser
- NP_001394567.1:p.Thr235Ser
- NP_001394568.1:p.Thr236Ser
- NP_001394569.1:p.Thr236Ser
- NP_001394570.1:p.Thr236Ser
- NP_001394571.1:p.Thr236Ser
- NP_001394573.1:p.Thr235Ser
- NP_001394574.1:p.Thr235Ser
- NP_001394575.1:p.Thr233Ser
- NP_001394576.1:p.Thr233Ser
- NP_001394577.1:p.Thr195Ser
- NP_001394578.1:p.Thr194Ser
- NP_001394581.1:p.Thr236Ser
- NP_001394582.1:p.Thr210Ser
- NP_001394583.1:p.Thr210Ser
- NP_001394584.1:p.Thr210Ser
- NP_001394585.1:p.Thr210Ser
- NP_001394586.1:p.Thr210Ser
- NP_001394587.1:p.Thr210Ser
- NP_001394588.1:p.Thr209Ser
- NP_001394589.1:p.Thr209Ser
- NP_001394590.1:p.Thr209Ser
- NP_001394591.1:p.Thr209Ser
- NP_001394592.1:p.Thr210Ser
- NP_001394593.1:p.Thr195Ser
- NP_001394594.1:p.Thr195Ser
- NP_001394595.1:p.Thr195Ser
- NP_001394596.1:p.Thr195Ser
- NP_001394597.1:p.Thr195Ser
- NP_001394598.1:p.Thr195Ser
- NP_001394599.1:p.Thr194Ser
- NP_001394600.1:p.Thr194Ser
- NP_001394601.1:p.Thr194Ser
- NP_001394602.1:p.Thr194Ser
- NP_001394603.1:p.Thr195Ser
- NP_001394604.1:p.Thr195Ser
- NP_001394605.1:p.Thr195Ser
- NP_001394606.1:p.Thr195Ser
- NP_001394607.1:p.Thr195Ser
- NP_001394608.1:p.Thr195Ser
- NP_001394609.1:p.Thr195Ser
- NP_001394610.1:p.Thr195Ser
- NP_001394611.1:p.Thr195Ser
- NP_001394612.1:p.Thr195Ser
- NP_001394613.1:p.Thr236Ser
- NP_001394614.1:p.Thr194Ser
- NP_001394615.1:p.Thr194Ser
- NP_001394616.1:p.Thr194Ser
- NP_001394617.1:p.Thr194Ser
- NP_001394618.1:p.Thr194Ser
- NP_001394619.1:p.Thr194Ser
- NP_001394620.1:p.Thr194Ser
- NP_001394621.1:p.Thr189Ser
- NP_001394623.1:p.Thr189Ser
- NP_001394624.1:p.Thr189Ser
- NP_001394625.1:p.Thr189Ser
- NP_001394626.1:p.Thr189Ser
- NP_001394627.1:p.Thr189Ser
- NP_001394653.1:p.Thr189Ser
- NP_001394654.1:p.Thr189Ser
- NP_001394655.1:p.Thr189Ser
- NP_001394656.1:p.Thr189Ser
- NP_001394657.1:p.Thr189Ser
- NP_001394658.1:p.Thr189Ser
- NP_001394659.1:p.Thr189Ser
- NP_001394660.1:p.Thr189Ser
- NP_001394661.1:p.Thr189Ser
- NP_001394662.1:p.Thr189Ser
- NP_001394663.1:p.Thr189Ser
- NP_001394664.1:p.Thr189Ser
- NP_001394665.1:p.Thr189Ser
- NP_001394666.1:p.Thr189Ser
- NP_001394667.1:p.Thr189Ser
- NP_001394668.1:p.Thr189Ser
- NP_001394669.1:p.Thr188Ser
- NP_001394670.1:p.Thr188Ser
- NP_001394671.1:p.Thr188Ser
- NP_001394672.1:p.Thr188Ser
- NP_001394673.1:p.Thr188Ser
- NP_001394674.1:p.Thr188Ser
- NP_001394675.1:p.Thr188Ser
- NP_001394676.1:p.Thr188Ser
- NP_001394677.1:p.Thr188Ser
- NP_001394678.1:p.Thr188Ser
- NP_001394679.1:p.Thr189Ser
- NP_001394680.1:p.Thr189Ser
- NP_001394681.1:p.Thr189Ser
- NP_001394767.1:p.Thr188Ser
- NP_001394768.1:p.Thr188Ser
- NP_001394770.1:p.Thr188Ser
- NP_001394771.1:p.Thr188Ser
- NP_001394772.1:p.Thr188Ser
- NP_001394773.1:p.Thr188Ser
- NP_001394774.1:p.Thr188Ser
- NP_001394775.1:p.Thr188Ser
- NP_001394776.1:p.Thr188Ser
- NP_001394777.1:p.Thr188Ser
- NP_001394778.1:p.Thr188Ser
- NP_001394779.1:p.Thr189Ser
- NP_001394780.1:p.Thr189Ser
- NP_001394781.1:p.Thr189Ser
- NP_001394782.1:p.Thr165Ser
- NP_001394783.1:p.Thr236Ser
- NP_001394787.1:p.Thr236Ser
- NP_001394788.1:p.Thr236Ser
- NP_001394789.1:p.Thr235Ser
- NP_001394790.1:p.Thr235Ser
- NP_001394791.1:p.Thr169Ser
- NP_001394792.1:p.Thr195Ser
- NP_001394803.1:p.Thr168Ser
- NP_001394804.1:p.Thr168Ser
- NP_001394808.1:p.Thr166Ser
- NP_001394810.1:p.Thr166Ser
- NP_001394811.1:p.Thr166Ser
- NP_001394813.1:p.Thr166Ser
- NP_001394814.1:p.Thr166Ser
- NP_001394815.1:p.Thr166Ser
- NP_001394816.1:p.Thr166Ser
- NP_001394818.1:p.Thr166Ser
- NP_001394823.1:p.Thr165Ser
- NP_001394824.1:p.Thr165Ser
- NP_001394825.1:p.Thr165Ser
- NP_001394826.1:p.Thr165Ser
- NP_001394827.1:p.Thr165Ser
- NP_001394828.1:p.Thr165Ser
- NP_001394829.1:p.Thr166Ser
- NP_001394831.1:p.Thr166Ser
- NP_001394833.1:p.Thr166Ser
- NP_001394835.1:p.Thr166Ser
- NP_001394836.1:p.Thr166Ser
- NP_001394837.1:p.Thr166Ser
- NP_001394838.1:p.Thr166Ser
- NP_001394839.1:p.Thr166Ser
- NP_001394844.1:p.Thr165Ser
- NP_001394845.1:p.Thr165Ser
- NP_001394846.1:p.Thr165Ser
- NP_001394847.1:p.Thr165Ser
- NP_001394848.1:p.Thr195Ser
- NP_001394849.1:p.Thr148Ser
- NP_001394850.1:p.Thr148Ser
- NP_001394851.1:p.Thr148Ser
- NP_001394852.1:p.Thr148Ser
- NP_001394853.1:p.Thr148Ser
- NP_001394854.1:p.Thr148Ser
- NP_001394855.1:p.Thr148Ser
- NP_001394856.1:p.Thr148Ser
- NP_001394857.1:p.Thr148Ser
- NP_001394858.1:p.Thr148Ser
- NP_001394859.1:p.Thr147Ser
- NP_001394860.1:p.Thr147Ser
- NP_001394861.1:p.Thr147Ser
- NP_001394862.1:p.Thr148Ser
- NP_001394863.1:p.Thr147Ser
- NP_001394864.1:p.Thr148Ser
- NP_001394865.1:p.Thr147Ser
- NP_001394866.1:p.Thr195Ser
- NP_001394867.1:p.Thr195Ser
- NP_001394868.1:p.Thr195Ser
- NP_001394869.1:p.Thr194Ser
- NP_001394870.1:p.Thr194Ser
- NP_001394871.1:p.Thr189Ser
- NP_001394872.1:p.Thr188Ser
- NP_001394873.1:p.Thr189Ser
- NP_001394874.1:p.Thr189Ser
- NP_001394875.1:p.Thr125Ser
- NP_001394876.1:p.Thr125Ser
- NP_001394877.1:p.Thr125Ser
- NP_001394878.1:p.Thr125Ser
- NP_001394879.1:p.Thr125Ser
- NP_001394880.1:p.Thr125Ser
- NP_001394881.1:p.Thr125Ser
- NP_001394882.1:p.Thr125Ser
- NP_001394883.1:p.Thr124Ser
- NP_001394884.1:p.Thr124Ser
- NP_001394885.1:p.Thr124Ser
- NP_001394886.1:p.Thr125Ser
- NP_001394887.1:p.Thr124Ser
- NP_001394888.1:p.Thr109Ser
- NP_001394889.1:p.Thr109Ser
- NP_001394891.1:p.Thr108Ser
- NP_001394892.1:p.Thr109Ser
- NP_001394893.1:p.Thr188Ser
- NP_001394894.1:p.Thr68Ser
- NP_001394897.1:p.Thr236Ser
- NP_001394898.1:p.Thr236Ser
- NP_001394899.1:p.Thr236Ser
- NP_001394900.1:p.Thr236Ser
- NP_001394901.1:p.Thr235Ser
- NP_001394902.1:p.Thr236Ser
- NP_001394903.1:p.Thr236Ser
- NP_001394904.1:p.Thr236Ser
- NP_001394905.1:p.Thr236Ser
- NP_001394906.1:p.Thr236Ser
- NP_001394907.1:p.Thr236Ser
- NP_001394908.1:p.Thr236Ser
- NP_001394909.1:p.Thr236Ser
- NP_001394910.1:p.Thr236Ser
- NP_001394911.1:p.Thr236Ser
- NP_001394912.1:p.Thr236Ser
- NP_001394913.1:p.Thr235Ser
- NP_001394914.1:p.Thr235Ser
- NP_001394915.1:p.Thr235Ser
- NP_001394919.1:p.Thr236Ser
- NP_001394920.1:p.Thr235Ser
- NP_001394921.1:p.Thr235Ser
- NP_001394922.1:p.Thr236Ser
- NP_001395321.1:p.Thr235Ser
- NP_001395325.1:p.Thr235Ser
- NP_001395326.1:p.Thr235Ser
- NP_001395327.1:p.Thr235Ser
- NP_001395328.1:p.Thr235Ser
- NP_001395329.1:p.Thr235Ser
- NP_001395330.1:p.Thr235Ser
- NP_001395331.1:p.Thr235Ser
- NP_001395332.1:p.Thr236Ser
- NP_001395333.1:p.Thr236Ser
- NP_001395335.1:p.Thr236Ser
- NP_001395336.1:p.Thr235Ser
- NP_001395337.1:p.Thr233Ser
- NP_001395338.1:p.Thr210Ser
- NP_001395339.1:p.Thr189Ser
- NP_001395340.1:p.Thr210Ser
- NP_001395341.1:p.Thr210Ser
- NP_001395342.1:p.Thr209Ser
- NP_001395343.1:p.Thr210Ser
- NP_001395344.1:p.Thr210Ser
- NP_001395345.1:p.Thr209Ser
- NP_001395354.1:p.Thr195Ser
- NP_001395355.1:p.Thr195Ser
- NP_001395356.1:p.Thr195Ser
- NP_001395357.1:p.Thr195Ser
- NP_001395358.1:p.Thr195Ser
- NP_001395359.1:p.Thr195Ser
- NP_001395361.1:p.Thr194Ser
- NP_001395362.1:p.Thr194Ser
- NP_001395363.1:p.Thr194Ser
- NP_001395364.1:p.Thr194Ser
- NP_001395365.1:p.Thr195Ser
- NP_001395366.1:p.Thr195Ser
- NP_001395367.1:p.Thr195Ser
- NP_001395368.1:p.Thr195Ser
- NP_001395369.1:p.Thr195Ser
- NP_001395370.1:p.Thr195Ser
- NP_001395371.1:p.Thr195Ser
- NP_001395372.1:p.Thr195Ser
- NP_001395373.1:p.Thr195Ser
- NP_001395374.1:p.Thr194Ser
- NP_001395375.1:p.Thr194Ser
- NP_001395376.1:p.Thr194Ser
- NP_001395377.1:p.Thr194Ser
- NP_001395379.1:p.Thr194Ser
- NP_001395380.1:p.Thr191Ser
- NP_001395381.1:p.Thr189Ser
- NP_001395382.1:p.Thr189Ser
- NP_001395383.1:p.Thr189Ser
- NP_001395384.1:p.Thr189Ser
- NP_001395385.1:p.Thr189Ser
- NP_001395386.1:p.Thr189Ser
- NP_001395387.1:p.Thr189Ser
- NP_001395388.1:p.Thr189Ser
- NP_001395389.1:p.Thr189Ser
- NP_001395390.1:p.Thr189Ser
- NP_001395391.1:p.Thr188Ser
- NP_001395392.1:p.Thr188Ser
- NP_001395393.1:p.Thr188Ser
- NP_001395394.1:p.Thr188Ser
- NP_001395395.1:p.Thr189Ser
- NP_001395396.1:p.Thr189Ser
- NP_001395397.1:p.Thr188Ser
- NP_001395398.1:p.Thr189Ser
- NP_001395399.1:p.Thr188Ser
- NP_001395401.1:p.Thr236Ser
- NP_001395402.1:p.Thr235Ser
- NP_001395403.1:p.Thr169Ser
- NP_001395404.1:p.Thr168Ser
- NP_001395405.1:p.Thr169Ser
- NP_001395407.1:p.Thr166Ser
- NP_001395408.1:p.Thr166Ser
- NP_001395409.1:p.Thr166Ser
- NP_001395410.1:p.Thr166Ser
- NP_001395411.1:p.Thr166Ser
- NP_001395412.1:p.Thr166Ser
- NP_001395413.1:p.Thr166Ser
- NP_001395414.1:p.Thr166Ser
- NP_001395418.1:p.Thr166Ser
- NP_001395419.1:p.Thr165Ser
- NP_001395420.1:p.Thr165Ser
- NP_001395421.1:p.Thr166Ser
- NP_001395422.1:p.Thr165Ser
- NP_001395425.1:p.Thr148Ser
- NP_001395426.1:p.Thr148Ser
- NP_001395427.1:p.Thr148Ser
- NP_001395428.1:p.Thr148Ser
- NP_001395429.1:p.Thr148Ser
- NP_001395430.1:p.Thr148Ser
- NP_001395431.1:p.Thr125Ser
- NP_001395432.1:p.Thr147Ser
- NP_001395433.1:p.Thr147Ser
- NP_001395434.1:p.Thr147Ser
- NP_001395437.1:p.Thr124Ser
- NP_001395438.1:p.Thr124Ser
- NP_001395439.1:p.Thr109Ser
- NP_001395441.1:p.Thr68Ser
- NP_001395442.1:p.Thr166Ser
- NP_001395443.1:p.Thr166Ser
- NP_009225.1:p.Thr236Ser
- NP_009225.1:p.Thr236Ser
- NP_009228.2:p.Thr189Ser
- NP_009229.2:p.Thr236Ser
- NP_009229.2:p.Thr236Ser
- NP_009230.2:p.Thr236Ser
- NP_009231.2:p.Thr236Ser
- NP_009235.2:p.Thr236Ser
- LRG_292t1:c.707C>G
- LRG_292:g.123160C>G
- LRG_292p1:p.Thr236Ser
- NC_000017.10:g.41246841G>C
- NM_007294.3:c.707C>G
- NM_007298.3:c.707C>G
- NR_027676.2:n.884C>G
- U14680.1:n.826C>G
This HGVS expression did not pass validation- Protein change:
- T108S
- Links:
- dbSNP: rs80356990
- NCBI 1000 Genomes Browser:
- rs80356990
- Molecular consequence:
- NM_001407571.1:c.494C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.698C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.698C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.581C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.629C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.629C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.629C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.629C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.629C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.629C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.626C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.626C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.626C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.626C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.629C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.581C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.581C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.581C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.581C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.581C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.581C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.581C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.581C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.581C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.581C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.581C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.494C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.506C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.503C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.503C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.494C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.494C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.494C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.494C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.494C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.494C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.494C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.494C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.494C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.494C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.443C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.443C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.443C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.443C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.443C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.443C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.443C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.443C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.443C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.443C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.440C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.440C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.440C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.443C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.440C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.443C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.440C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.581C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.581C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.374C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.374C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.374C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.374C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.374C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.374C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.374C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.374C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.371C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.371C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.371C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.374C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.371C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.326C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.326C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.323C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.326C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.203C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.698C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.629C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408410.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.629C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.629C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.626C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.629C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.629C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.626C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.581C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.581C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.581C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.581C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.584C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.581C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.581C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.581C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.581C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.581C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408451.1:c.572C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408452.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408453.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408454.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408455.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408456.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408457.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408458.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408459.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408460.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408461.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408462.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408463.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408464.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408465.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408466.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408467.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408468.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408469.1:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408470.1:c.563C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.704C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.506C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.503C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.506C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408478.1:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408479.1:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408480.1:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408481.1:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408482.1:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408483.1:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408484.1:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408485.1:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408489.1:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408490.1:c.494C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408491.1:c.494C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408492.1:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408493.1:c.494C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408496.1:c.443C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408497.1:c.443C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408498.1:c.443C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408499.1:c.443C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408500.1:c.443C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408501.1:c.443C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408502.1:c.374C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408503.1:c.440C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408504.1:c.440C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408505.1:c.440C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408508.1:c.371C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408509.1:c.371C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408510.1:c.326C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408512.1:c.203C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408513.1:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408514.1:c.497C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.566C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.707C>G - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.884C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
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 |
---|---|---|---|---|---|---|
SCV000276927 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (Jul 2, 2015) | germline | clinical testing | |
SCV003848000 | 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
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
Details of each submission
From Ambry Genetics, SCV000276927.5
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The p.T236S variant (also known as c.707C>G and 826C>G), located in coding exon 9 of the BRCA1 gene, results from a C to G substitution at nucleotide position 707. The threonine at codon 236 is replaced by serine, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as rs80356990, but was absent from population-based cohorts in the NHLBI Exome Sequencing Project (ESP) and 1000 Genomes Project databases. This amino acid position is poorly 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 p.T236S 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 University of Washington Department of Laboratory Medicine, University of Washington, SCV003848000.1
# | 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: Jun 2, 2024