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NM_007294.4(BRCA1):c.3190A>T (p.Ser1064Cys) AND Hereditary cancer-predisposing syndrome

Germline classification:
Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:
Mar 23, 2023
Review status:
criteria provided, conflicting classifications
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000166720.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.3190A>T (p.Ser1064Cys)]

NM_007294.4(BRCA1):c.3190A>T (p.Ser1064Cys)

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.3190A>T (p.Ser1064Cys)
HGVS:
  • NC_000017.11:g.43092341T>A
  • NG_005905.2:g.125643A>T
  • NG_087068.1:g.1323T>A
  • NM_001407571.1:c.2977A>T
  • NM_001407581.1:c.3190A>T
  • NM_001407582.1:c.3190A>T
  • NM_001407583.1:c.3190A>T
  • NM_001407585.1:c.3190A>T
  • NM_001407587.1:c.3187A>T
  • NM_001407590.1:c.3187A>T
  • NM_001407591.1:c.3187A>T
  • NM_001407593.1:c.3190A>T
  • NM_001407594.1:c.3190A>T
  • NM_001407596.1:c.3190A>T
  • NM_001407597.1:c.3190A>T
  • NM_001407598.1:c.3190A>T
  • NM_001407602.1:c.3190A>T
  • NM_001407603.1:c.3190A>T
  • NM_001407605.1:c.3190A>T
  • NM_001407610.1:c.3187A>T
  • NM_001407611.1:c.3187A>T
  • NM_001407612.1:c.3187A>T
  • NM_001407613.1:c.3187A>T
  • NM_001407614.1:c.3187A>T
  • NM_001407615.1:c.3187A>T
  • NM_001407616.1:c.3190A>T
  • NM_001407617.1:c.3190A>T
  • NM_001407618.1:c.3190A>T
  • NM_001407619.1:c.3190A>T
  • NM_001407620.1:c.3190A>T
  • NM_001407621.1:c.3190A>T
  • NM_001407622.1:c.3190A>T
  • NM_001407623.1:c.3190A>T
  • NM_001407624.1:c.3190A>T
  • NM_001407625.1:c.3190A>T
  • NM_001407626.1:c.3190A>T
  • NM_001407627.1:c.3187A>T
  • NM_001407628.1:c.3187A>T
  • NM_001407629.1:c.3187A>T
  • NM_001407630.1:c.3187A>T
  • NM_001407631.1:c.3187A>T
  • NM_001407632.1:c.3187A>T
  • NM_001407633.1:c.3187A>T
  • NM_001407634.1:c.3187A>T
  • NM_001407635.1:c.3187A>T
  • NM_001407636.1:c.3187A>T
  • NM_001407637.1:c.3187A>T
  • NM_001407638.1:c.3187A>T
  • NM_001407639.1:c.3190A>T
  • NM_001407640.1:c.3190A>T
  • NM_001407641.1:c.3190A>T
  • NM_001407642.1:c.3190A>T
  • NM_001407644.1:c.3187A>T
  • NM_001407645.1:c.3187A>T
  • NM_001407646.1:c.3181A>T
  • NM_001407647.1:c.3181A>T
  • NM_001407648.1:c.3067A>T
  • NM_001407649.1:c.3064A>T
  • NM_001407652.1:c.3190A>T
  • NM_001407653.1:c.3112A>T
  • NM_001407654.1:c.3112A>T
  • NM_001407655.1:c.3112A>T
  • NM_001407656.1:c.3112A>T
  • NM_001407657.1:c.3112A>T
  • NM_001407658.1:c.3112A>T
  • NM_001407659.1:c.3109A>T
  • NM_001407660.1:c.3109A>T
  • NM_001407661.1:c.3109A>T
  • NM_001407662.1:c.3109A>T
  • NM_001407663.1:c.3112A>T
  • NM_001407664.1:c.3067A>T
  • NM_001407665.1:c.3067A>T
  • NM_001407666.1:c.3067A>T
  • NM_001407667.1:c.3067A>T
  • NM_001407668.1:c.3067A>T
  • NM_001407669.1:c.3067A>T
  • NM_001407670.1:c.3064A>T
  • NM_001407671.1:c.3064A>T
  • NM_001407672.1:c.3064A>T
  • NM_001407673.1:c.3064A>T
  • NM_001407674.1:c.3067A>T
  • NM_001407675.1:c.3067A>T
  • NM_001407676.1:c.3067A>T
  • NM_001407677.1:c.3067A>T
  • NM_001407678.1:c.3067A>T
  • NM_001407679.1:c.3067A>T
  • NM_001407680.1:c.3067A>T
  • NM_001407681.1:c.3067A>T
  • NM_001407682.1:c.3067A>T
  • NM_001407683.1:c.3067A>T
  • NM_001407684.1:c.3190A>T
  • NM_001407685.1:c.3064A>T
  • NM_001407686.1:c.3064A>T
  • NM_001407687.1:c.3064A>T
  • NM_001407688.1:c.3064A>T
  • NM_001407689.1:c.3064A>T
  • NM_001407690.1:c.3064A>T
  • NM_001407691.1:c.3064A>T
  • NM_001407692.1:c.3049A>T
  • NM_001407694.1:c.3049A>T
  • NM_001407695.1:c.3049A>T
  • NM_001407696.1:c.3049A>T
  • NM_001407697.1:c.3049A>T
  • NM_001407698.1:c.3049A>T
  • NM_001407724.1:c.3049A>T
  • NM_001407725.1:c.3049A>T
  • NM_001407726.1:c.3049A>T
  • NM_001407727.1:c.3049A>T
  • NM_001407728.1:c.3049A>T
  • NM_001407729.1:c.3049A>T
  • NM_001407730.1:c.3049A>T
  • NM_001407731.1:c.3049A>T
  • NM_001407732.1:c.3049A>T
  • NM_001407733.1:c.3049A>T
  • NM_001407734.1:c.3049A>T
  • NM_001407735.1:c.3049A>T
  • NM_001407736.1:c.3049A>T
  • NM_001407737.1:c.3049A>T
  • NM_001407738.1:c.3049A>T
  • NM_001407739.1:c.3049A>T
  • NM_001407740.1:c.3046A>T
  • NM_001407741.1:c.3046A>T
  • NM_001407742.1:c.3046A>T
  • NM_001407743.1:c.3046A>T
  • NM_001407744.1:c.3046A>T
  • NM_001407745.1:c.3046A>T
  • NM_001407746.1:c.3046A>T
  • NM_001407747.1:c.3046A>T
  • NM_001407748.1:c.3046A>T
  • NM_001407749.1:c.3046A>T
  • NM_001407750.1:c.3049A>T
  • NM_001407751.1:c.3049A>T
  • NM_001407752.1:c.3049A>T
  • NM_001407838.1:c.3046A>T
  • NM_001407839.1:c.3046A>T
  • NM_001407841.1:c.3046A>T
  • NM_001407842.1:c.3046A>T
  • NM_001407843.1:c.3046A>T
  • NM_001407844.1:c.3046A>T
  • NM_001407845.1:c.3046A>T
  • NM_001407846.1:c.3046A>T
  • NM_001407847.1:c.3046A>T
  • NM_001407848.1:c.3046A>T
  • NM_001407849.1:c.3046A>T
  • NM_001407850.1:c.3049A>T
  • NM_001407851.1:c.3049A>T
  • NM_001407852.1:c.3049A>T
  • NM_001407853.1:c.2977A>T
  • NM_001407854.1:c.3190A>T
  • NM_001407858.1:c.3190A>T
  • NM_001407859.1:c.3190A>T
  • NM_001407860.1:c.3187A>T
  • NM_001407861.1:c.3187A>T
  • NM_001407862.1:c.2989A>T
  • NM_001407863.1:c.3067A>T
  • NM_001407874.1:c.2986A>T
  • NM_001407875.1:c.2986A>T
  • NM_001407879.1:c.2980A>T
  • NM_001407881.1:c.2980A>T
  • NM_001407882.1:c.2980A>T
  • NM_001407884.1:c.2980A>T
  • NM_001407885.1:c.2980A>T
  • NM_001407886.1:c.2980A>T
  • NM_001407887.1:c.2980A>T
  • NM_001407889.1:c.2980A>T
  • NM_001407894.1:c.2977A>T
  • NM_001407895.1:c.2977A>T
  • NM_001407896.1:c.2977A>T
  • NM_001407897.1:c.2977A>T
  • NM_001407898.1:c.2977A>T
  • NM_001407899.1:c.2977A>T
  • NM_001407900.1:c.2980A>T
  • NM_001407902.1:c.2980A>T
  • NM_001407904.1:c.2980A>T
  • NM_001407906.1:c.2980A>T
  • NM_001407907.1:c.2980A>T
  • NM_001407908.1:c.2980A>T
  • NM_001407909.1:c.2980A>T
  • NM_001407910.1:c.2980A>T
  • NM_001407915.1:c.2977A>T
  • NM_001407916.1:c.2977A>T
  • NM_001407917.1:c.2977A>T
  • NM_001407918.1:c.2977A>T
  • NM_001407919.1:c.3067A>T
  • NM_001407920.1:c.2926A>T
  • NM_001407921.1:c.2926A>T
  • NM_001407922.1:c.2926A>T
  • NM_001407923.1:c.2926A>T
  • NM_001407924.1:c.2926A>T
  • NM_001407925.1:c.2926A>T
  • NM_001407926.1:c.2926A>T
  • NM_001407927.1:c.2926A>T
  • NM_001407928.1:c.2926A>T
  • NM_001407929.1:c.2926A>T
  • NM_001407930.1:c.2923A>T
  • NM_001407931.1:c.2923A>T
  • NM_001407932.1:c.2923A>T
  • NM_001407933.1:c.2926A>T
  • NM_001407934.1:c.2923A>T
  • NM_001407935.1:c.2926A>T
  • NM_001407936.1:c.2923A>T
  • NM_001407937.1:c.3067A>T
  • NM_001407938.1:c.3067A>T
  • NM_001407939.1:c.3067A>T
  • NM_001407940.1:c.3064A>T
  • NM_001407941.1:c.3064A>T
  • NM_001407942.1:c.3049A>T
  • NM_001407943.1:c.3046A>T
  • NM_001407944.1:c.3049A>T
  • NM_001407945.1:c.3049A>T
  • NM_001407946.1:c.2857A>T
  • NM_001407947.1:c.2857A>T
  • NM_001407948.1:c.2857A>T
  • NM_001407949.1:c.2857A>T
  • NM_001407950.1:c.2857A>T
  • NM_001407951.1:c.2857A>T
  • NM_001407952.1:c.2857A>T
  • NM_001407953.1:c.2857A>T
  • NM_001407954.1:c.2854A>T
  • NM_001407955.1:c.2854A>T
  • NM_001407956.1:c.2854A>T
  • NM_001407957.1:c.2857A>T
  • NM_001407958.1:c.2854A>T
  • NM_001407959.1:c.2809A>T
  • NM_001407960.1:c.2809A>T
  • NM_001407962.1:c.2806A>T
  • NM_001407963.1:c.2809A>T
  • NM_001407964.1:c.3046A>T
  • NM_001407965.1:c.2686A>T
  • NM_001407966.1:c.2302A>T
  • NM_001407967.1:c.2302A>T
  • NM_001407968.1:c.788-202A>T
  • NM_001407969.1:c.788-202A>T
  • NM_001407970.1:c.788-1309A>T
  • NM_001407971.1:c.788-1309A>T
  • NM_001407972.1:c.785-1309A>T
  • NM_001407973.1:c.788-1309A>T
  • NM_001407974.1:c.788-1309A>T
  • NM_001407975.1:c.788-1309A>T
  • NM_001407976.1:c.788-1309A>T
  • NM_001407977.1:c.788-1309A>T
  • NM_001407978.1:c.788-1309A>T
  • NM_001407979.1:c.788-1309A>T
  • NM_001407980.1:c.788-1309A>T
  • NM_001407981.1:c.788-1309A>T
  • NM_001407982.1:c.788-1309A>T
  • NM_001407983.1:c.788-1309A>T
  • NM_001407984.1:c.785-1309A>T
  • NM_001407985.1:c.785-1309A>T
  • NM_001407986.1:c.785-1309A>T
  • NM_001407990.1:c.788-1309A>T
  • NM_001407991.1:c.785-1309A>T
  • NM_001407992.1:c.785-1309A>T
  • NM_001407993.1:c.788-1309A>T
  • NM_001408392.1:c.785-1309A>T
  • NM_001408396.1:c.785-1309A>T
  • NM_001408397.1:c.785-1309A>T
  • NM_001408398.1:c.785-1309A>T
  • NM_001408399.1:c.785-1309A>T
  • NM_001408400.1:c.785-1309A>T
  • NM_001408401.1:c.785-1309A>T
  • NM_001408402.1:c.785-1309A>T
  • NM_001408403.1:c.788-1309A>T
  • NM_001408404.1:c.788-1309A>T
  • NM_001408406.1:c.791-1318A>T
  • NM_001408407.1:c.785-1309A>T
  • NM_001408408.1:c.779-1309A>T
  • NM_001408409.1:c.710-1309A>T
  • NM_001408410.1:c.647-1309A>T
  • NM_001408411.1:c.710-1309A>T
  • NM_001408412.1:c.710-1309A>T
  • NM_001408413.1:c.707-1309A>T
  • NM_001408414.1:c.710-1309A>T
  • NM_001408415.1:c.710-1309A>T
  • NM_001408416.1:c.707-1309A>T
  • NM_001408418.1:c.671-1309A>T
  • NM_001408419.1:c.671-1309A>T
  • NM_001408420.1:c.671-1309A>T
  • NM_001408421.1:c.668-1309A>T
  • NM_001408422.1:c.671-1309A>T
  • NM_001408423.1:c.671-1309A>T
  • NM_001408424.1:c.668-1309A>T
  • NM_001408425.1:c.665-1309A>T
  • NM_001408426.1:c.665-1309A>T
  • NM_001408427.1:c.665-1309A>T
  • NM_001408428.1:c.665-1309A>T
  • NM_001408429.1:c.665-1309A>T
  • NM_001408430.1:c.665-1309A>T
  • NM_001408431.1:c.668-1309A>T
  • NM_001408432.1:c.662-1309A>T
  • NM_001408433.1:c.662-1309A>T
  • NM_001408434.1:c.662-1309A>T
  • NM_001408435.1:c.662-1309A>T
  • NM_001408436.1:c.665-1309A>T
  • NM_001408437.1:c.665-1309A>T
  • NM_001408438.1:c.665-1309A>T
  • NM_001408439.1:c.665-1309A>T
  • NM_001408440.1:c.665-1309A>T
  • NM_001408441.1:c.665-1309A>T
  • NM_001408442.1:c.665-1309A>T
  • NM_001408443.1:c.665-1309A>T
  • NM_001408444.1:c.665-1309A>T
  • NM_001408445.1:c.662-1309A>T
  • NM_001408446.1:c.662-1309A>T
  • NM_001408447.1:c.662-1309A>T
  • NM_001408448.1:c.662-1309A>T
  • NM_001408450.1:c.662-1309A>T
  • NM_001408451.1:c.653-1309A>T
  • NM_001408452.1:c.647-1309A>T
  • NM_001408453.1:c.647-1309A>T
  • NM_001408454.1:c.647-1309A>T
  • NM_001408455.1:c.647-1309A>T
  • NM_001408456.1:c.647-1309A>T
  • NM_001408457.1:c.647-1309A>T
  • NM_001408458.1:c.647-1309A>T
  • NM_001408459.1:c.647-1309A>T
  • NM_001408460.1:c.647-1309A>T
  • NM_001408461.1:c.647-1309A>T
  • NM_001408462.1:c.644-1309A>T
  • NM_001408463.1:c.644-1309A>T
  • NM_001408464.1:c.644-1309A>T
  • NM_001408465.1:c.644-1309A>T
  • NM_001408466.1:c.647-1309A>T
  • NM_001408467.1:c.647-1309A>T
  • NM_001408468.1:c.644-1309A>T
  • NM_001408469.1:c.647-1309A>T
  • NM_001408470.1:c.644-1309A>T
  • NM_001408472.1:c.788-1309A>T
  • NM_001408473.1:c.785-1309A>T
  • NM_001408474.1:c.587-1309A>T
  • NM_001408475.1:c.584-1309A>T
  • NM_001408476.1:c.587-1309A>T
  • NM_001408478.1:c.578-1309A>T
  • NM_001408479.1:c.578-1309A>T
  • NM_001408480.1:c.578-1309A>T
  • NM_001408481.1:c.578-1309A>T
  • NM_001408482.1:c.578-1309A>T
  • NM_001408483.1:c.578-1309A>T
  • NM_001408484.1:c.578-1309A>T
  • NM_001408485.1:c.578-1309A>T
  • NM_001408489.1:c.578-1309A>T
  • NM_001408490.1:c.575-1309A>T
  • NM_001408491.1:c.575-1309A>T
  • NM_001408492.1:c.578-1309A>T
  • NM_001408493.1:c.575-1309A>T
  • NM_001408494.1:c.548-1309A>T
  • NM_001408495.1:c.545-1309A>T
  • NM_001408496.1:c.524-1309A>T
  • NM_001408497.1:c.524-1309A>T
  • NM_001408498.1:c.524-1309A>T
  • NM_001408499.1:c.524-1309A>T
  • NM_001408500.1:c.524-1309A>T
  • NM_001408501.1:c.524-1309A>T
  • NM_001408502.1:c.455-1309A>T
  • NM_001408503.1:c.521-1309A>T
  • NM_001408504.1:c.521-1309A>T
  • NM_001408505.1:c.521-1309A>T
  • NM_001408506.1:c.461-1309A>T
  • NM_001408507.1:c.461-1309A>T
  • NM_001408508.1:c.452-1309A>T
  • NM_001408509.1:c.452-1309A>T
  • NM_001408510.1:c.407-1309A>T
  • NM_001408511.1:c.404-1309A>T
  • NM_001408512.1:c.284-1309A>T
  • NM_001408513.1:c.578-1309A>T
  • NM_001408514.1:c.578-1309A>T
  • NM_007294.4:c.3190A>TMANE SELECT
  • NM_007297.4:c.3049A>T
  • NM_007298.4:c.788-1309A>T
  • NM_007299.4:c.788-1309A>T
  • NM_007300.4:c.3190A>T
  • NP_001394500.1:p.Ser993Cys
  • NP_001394510.1:p.Ser1064Cys
  • NP_001394511.1:p.Ser1064Cys
  • NP_001394512.1:p.Ser1064Cys
  • NP_001394514.1:p.Ser1064Cys
  • NP_001394516.1:p.Ser1063Cys
  • NP_001394519.1:p.Ser1063Cys
  • NP_001394520.1:p.Ser1063Cys
  • NP_001394522.1:p.Ser1064Cys
  • NP_001394523.1:p.Ser1064Cys
  • NP_001394525.1:p.Ser1064Cys
  • NP_001394526.1:p.Ser1064Cys
  • NP_001394527.1:p.Ser1064Cys
  • NP_001394531.1:p.Ser1064Cys
  • NP_001394532.1:p.Ser1064Cys
  • NP_001394534.1:p.Ser1064Cys
  • NP_001394539.1:p.Ser1063Cys
  • NP_001394540.1:p.Ser1063Cys
  • NP_001394541.1:p.Ser1063Cys
  • NP_001394542.1:p.Ser1063Cys
  • NP_001394543.1:p.Ser1063Cys
  • NP_001394544.1:p.Ser1063Cys
  • NP_001394545.1:p.Ser1064Cys
  • NP_001394546.1:p.Ser1064Cys
  • NP_001394547.1:p.Ser1064Cys
  • NP_001394548.1:p.Ser1064Cys
  • NP_001394549.1:p.Ser1064Cys
  • NP_001394550.1:p.Ser1064Cys
  • NP_001394551.1:p.Ser1064Cys
  • NP_001394552.1:p.Ser1064Cys
  • NP_001394553.1:p.Ser1064Cys
  • NP_001394554.1:p.Ser1064Cys
  • NP_001394555.1:p.Ser1064Cys
  • NP_001394556.1:p.Ser1063Cys
  • NP_001394557.1:p.Ser1063Cys
  • NP_001394558.1:p.Ser1063Cys
  • NP_001394559.1:p.Ser1063Cys
  • NP_001394560.1:p.Ser1063Cys
  • NP_001394561.1:p.Ser1063Cys
  • NP_001394562.1:p.Ser1063Cys
  • NP_001394563.1:p.Ser1063Cys
  • NP_001394564.1:p.Ser1063Cys
  • NP_001394565.1:p.Ser1063Cys
  • NP_001394566.1:p.Ser1063Cys
  • NP_001394567.1:p.Ser1063Cys
  • NP_001394568.1:p.Ser1064Cys
  • NP_001394569.1:p.Ser1064Cys
  • NP_001394570.1:p.Ser1064Cys
  • NP_001394571.1:p.Ser1064Cys
  • NP_001394573.1:p.Ser1063Cys
  • NP_001394574.1:p.Ser1063Cys
  • NP_001394575.1:p.Ser1061Cys
  • NP_001394576.1:p.Ser1061Cys
  • NP_001394577.1:p.Ser1023Cys
  • NP_001394578.1:p.Ser1022Cys
  • NP_001394581.1:p.Ser1064Cys
  • NP_001394582.1:p.Ser1038Cys
  • NP_001394583.1:p.Ser1038Cys
  • NP_001394584.1:p.Ser1038Cys
  • NP_001394585.1:p.Ser1038Cys
  • NP_001394586.1:p.Ser1038Cys
  • NP_001394587.1:p.Ser1038Cys
  • NP_001394588.1:p.Ser1037Cys
  • NP_001394589.1:p.Ser1037Cys
  • NP_001394590.1:p.Ser1037Cys
  • NP_001394591.1:p.Ser1037Cys
  • NP_001394592.1:p.Ser1038Cys
  • NP_001394593.1:p.Ser1023Cys
  • NP_001394594.1:p.Ser1023Cys
  • NP_001394595.1:p.Ser1023Cys
  • NP_001394596.1:p.Ser1023Cys
  • NP_001394597.1:p.Ser1023Cys
  • NP_001394598.1:p.Ser1023Cys
  • NP_001394599.1:p.Ser1022Cys
  • NP_001394600.1:p.Ser1022Cys
  • NP_001394601.1:p.Ser1022Cys
  • NP_001394602.1:p.Ser1022Cys
  • NP_001394603.1:p.Ser1023Cys
  • NP_001394604.1:p.Ser1023Cys
  • NP_001394605.1:p.Ser1023Cys
  • NP_001394606.1:p.Ser1023Cys
  • NP_001394607.1:p.Ser1023Cys
  • NP_001394608.1:p.Ser1023Cys
  • NP_001394609.1:p.Ser1023Cys
  • NP_001394610.1:p.Ser1023Cys
  • NP_001394611.1:p.Ser1023Cys
  • NP_001394612.1:p.Ser1023Cys
  • NP_001394613.1:p.Ser1064Cys
  • NP_001394614.1:p.Ser1022Cys
  • NP_001394615.1:p.Ser1022Cys
  • NP_001394616.1:p.Ser1022Cys
  • NP_001394617.1:p.Ser1022Cys
  • NP_001394618.1:p.Ser1022Cys
  • NP_001394619.1:p.Ser1022Cys
  • NP_001394620.1:p.Ser1022Cys
  • NP_001394621.1:p.Ser1017Cys
  • NP_001394623.1:p.Ser1017Cys
  • NP_001394624.1:p.Ser1017Cys
  • NP_001394625.1:p.Ser1017Cys
  • NP_001394626.1:p.Ser1017Cys
  • NP_001394627.1:p.Ser1017Cys
  • NP_001394653.1:p.Ser1017Cys
  • NP_001394654.1:p.Ser1017Cys
  • NP_001394655.1:p.Ser1017Cys
  • NP_001394656.1:p.Ser1017Cys
  • NP_001394657.1:p.Ser1017Cys
  • NP_001394658.1:p.Ser1017Cys
  • NP_001394659.1:p.Ser1017Cys
  • NP_001394660.1:p.Ser1017Cys
  • NP_001394661.1:p.Ser1017Cys
  • NP_001394662.1:p.Ser1017Cys
  • NP_001394663.1:p.Ser1017Cys
  • NP_001394664.1:p.Ser1017Cys
  • NP_001394665.1:p.Ser1017Cys
  • NP_001394666.1:p.Ser1017Cys
  • NP_001394667.1:p.Ser1017Cys
  • NP_001394668.1:p.Ser1017Cys
  • NP_001394669.1:p.Ser1016Cys
  • NP_001394670.1:p.Ser1016Cys
  • NP_001394671.1:p.Ser1016Cys
  • NP_001394672.1:p.Ser1016Cys
  • NP_001394673.1:p.Ser1016Cys
  • NP_001394674.1:p.Ser1016Cys
  • NP_001394675.1:p.Ser1016Cys
  • NP_001394676.1:p.Ser1016Cys
  • NP_001394677.1:p.Ser1016Cys
  • NP_001394678.1:p.Ser1016Cys
  • NP_001394679.1:p.Ser1017Cys
  • NP_001394680.1:p.Ser1017Cys
  • NP_001394681.1:p.Ser1017Cys
  • NP_001394767.1:p.Ser1016Cys
  • NP_001394768.1:p.Ser1016Cys
  • NP_001394770.1:p.Ser1016Cys
  • NP_001394771.1:p.Ser1016Cys
  • NP_001394772.1:p.Ser1016Cys
  • NP_001394773.1:p.Ser1016Cys
  • NP_001394774.1:p.Ser1016Cys
  • NP_001394775.1:p.Ser1016Cys
  • NP_001394776.1:p.Ser1016Cys
  • NP_001394777.1:p.Ser1016Cys
  • NP_001394778.1:p.Ser1016Cys
  • NP_001394779.1:p.Ser1017Cys
  • NP_001394780.1:p.Ser1017Cys
  • NP_001394781.1:p.Ser1017Cys
  • NP_001394782.1:p.Ser993Cys
  • NP_001394783.1:p.Ser1064Cys
  • NP_001394787.1:p.Ser1064Cys
  • NP_001394788.1:p.Ser1064Cys
  • NP_001394789.1:p.Ser1063Cys
  • NP_001394790.1:p.Ser1063Cys
  • NP_001394791.1:p.Ser997Cys
  • NP_001394792.1:p.Ser1023Cys
  • NP_001394803.1:p.Ser996Cys
  • NP_001394804.1:p.Ser996Cys
  • NP_001394808.1:p.Ser994Cys
  • NP_001394810.1:p.Ser994Cys
  • NP_001394811.1:p.Ser994Cys
  • NP_001394813.1:p.Ser994Cys
  • NP_001394814.1:p.Ser994Cys
  • NP_001394815.1:p.Ser994Cys
  • NP_001394816.1:p.Ser994Cys
  • NP_001394818.1:p.Ser994Cys
  • NP_001394823.1:p.Ser993Cys
  • NP_001394824.1:p.Ser993Cys
  • NP_001394825.1:p.Ser993Cys
  • NP_001394826.1:p.Ser993Cys
  • NP_001394827.1:p.Ser993Cys
  • NP_001394828.1:p.Ser993Cys
  • NP_001394829.1:p.Ser994Cys
  • NP_001394831.1:p.Ser994Cys
  • NP_001394833.1:p.Ser994Cys
  • NP_001394835.1:p.Ser994Cys
  • NP_001394836.1:p.Ser994Cys
  • NP_001394837.1:p.Ser994Cys
  • NP_001394838.1:p.Ser994Cys
  • NP_001394839.1:p.Ser994Cys
  • NP_001394844.1:p.Ser993Cys
  • NP_001394845.1:p.Ser993Cys
  • NP_001394846.1:p.Ser993Cys
  • NP_001394847.1:p.Ser993Cys
  • NP_001394848.1:p.Ser1023Cys
  • NP_001394849.1:p.Ser976Cys
  • NP_001394850.1:p.Ser976Cys
  • NP_001394851.1:p.Ser976Cys
  • NP_001394852.1:p.Ser976Cys
  • NP_001394853.1:p.Ser976Cys
  • NP_001394854.1:p.Ser976Cys
  • NP_001394855.1:p.Ser976Cys
  • NP_001394856.1:p.Ser976Cys
  • NP_001394857.1:p.Ser976Cys
  • NP_001394858.1:p.Ser976Cys
  • NP_001394859.1:p.Ser975Cys
  • NP_001394860.1:p.Ser975Cys
  • NP_001394861.1:p.Ser975Cys
  • NP_001394862.1:p.Ser976Cys
  • NP_001394863.1:p.Ser975Cys
  • NP_001394864.1:p.Ser976Cys
  • NP_001394865.1:p.Ser975Cys
  • NP_001394866.1:p.Ser1023Cys
  • NP_001394867.1:p.Ser1023Cys
  • NP_001394868.1:p.Ser1023Cys
  • NP_001394869.1:p.Ser1022Cys
  • NP_001394870.1:p.Ser1022Cys
  • NP_001394871.1:p.Ser1017Cys
  • NP_001394872.1:p.Ser1016Cys
  • NP_001394873.1:p.Ser1017Cys
  • NP_001394874.1:p.Ser1017Cys
  • NP_001394875.1:p.Ser953Cys
  • NP_001394876.1:p.Ser953Cys
  • NP_001394877.1:p.Ser953Cys
  • NP_001394878.1:p.Ser953Cys
  • NP_001394879.1:p.Ser953Cys
  • NP_001394880.1:p.Ser953Cys
  • NP_001394881.1:p.Ser953Cys
  • NP_001394882.1:p.Ser953Cys
  • NP_001394883.1:p.Ser952Cys
  • NP_001394884.1:p.Ser952Cys
  • NP_001394885.1:p.Ser952Cys
  • NP_001394886.1:p.Ser953Cys
  • NP_001394887.1:p.Ser952Cys
  • NP_001394888.1:p.Ser937Cys
  • NP_001394889.1:p.Ser937Cys
  • NP_001394891.1:p.Ser936Cys
  • NP_001394892.1:p.Ser937Cys
  • NP_001394893.1:p.Ser1016Cys
  • NP_001394894.1:p.Ser896Cys
  • NP_001394895.1:p.Ser768Cys
  • NP_001394896.1:p.Ser768Cys
  • NP_009225.1:p.Ser1064Cys
  • NP_009225.1:p.Ser1064Cys
  • NP_009228.2:p.Ser1017Cys
  • NP_009231.2:p.Ser1064Cys
  • LRG_292t1:c.3190A>T
  • LRG_292:g.125643A>T
  • LRG_292p1:p.Ser1064Cys
  • NC_000017.10:g.41244358T>A
  • NM_007294.3:c.3190A>T
  • NR_027676.1:n.3326A>T
  • U14680.1:n.3309A>T
  • p.S1064C
Protein change:
S1016C
Links:
dbSNP: rs273899702
NCBI 1000 Genomes Browser:
rs273899702
Molecular consequence:
  • NM_001407968.1:c.788-202A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-202A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1318A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1309A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.2977A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.3187A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.3187A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.3187A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.3187A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.3187A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.3187A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.3187A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.3187A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.3187A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.3187A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.3187A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.3187A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.3187A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.3187A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.3187A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.3187A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.3187A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.3187A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.3187A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.3187A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.3187A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.3187A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.3187A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.3181A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.3181A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.3067A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.3064A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.3112A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.3112A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.3112A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.3112A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.3112A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.3112A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.3109A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.3109A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.3109A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.3109A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.3112A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.3067A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.3067A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.3067A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.3067A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.3067A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.3067A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.3064A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.3064A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.3064A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.3064A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.3067A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.3067A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.3067A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.3067A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.3067A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.3067A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.3067A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.3067A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.3067A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.3067A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.3064A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.3064A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.3064A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.3064A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.3064A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.3064A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.3064A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.3046A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.3046A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.3046A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.3046A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.3046A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.3046A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.3046A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.3046A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.3046A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.3046A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.3046A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.3046A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.3046A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.3046A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.3046A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.3046A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.3046A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.3046A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.3046A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.3046A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.3046A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.2977A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.3187A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.3187A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.2989A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.3067A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.2986A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.2986A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.2980A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.2980A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.2980A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.2980A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.2980A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.2980A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.2980A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.2980A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.2977A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.2977A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.2977A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.2977A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.2977A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.2977A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.2980A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.2980A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.2980A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.2980A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.2980A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.2980A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.2980A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.2980A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.2977A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.2977A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.2977A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.2977A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.3067A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.2926A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.2926A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.2926A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.2926A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.2926A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.2926A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.2926A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.2926A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.2926A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.2926A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.2923A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.2923A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.2923A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.2926A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.2923A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.2926A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.2923A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.3067A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.3067A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.3067A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.3064A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.3064A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.3046A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.2857A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.2857A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.2857A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.2857A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.2857A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.2857A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.2857A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.2857A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.2854A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.2854A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.2854A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.2857A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.2854A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.2809A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.2809A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.2806A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.2809A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.3046A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.2686A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.2302A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.2302A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.3190A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3049A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.3190A>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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000217531Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 19, 2022) 		germlineclinical testing

Citation Link,

SCV002538190Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Uncertain significance
(Feb 17, 2022) 		germlinecuration

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV003852296University of Washington Department of Laboratory Medicine, University of Washington
criteria provided, single submitter

(Dines et al. (Genet Med. 2020))		Likely benign
(Mar 23, 2023) 		germlinecuration

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing, curation

Citations

PubMed

Twenty Years of BRCA1 and BRCA2 Molecular Analysis at MMCI - Current Developments for the Classification of Variants.

Machackova E, Claes K, Mikova M, Házová J, Sťahlová EH, Vasickova P, Trbusek M, Navrátilová M, Svoboda M, Foretová L.

Klin Onkol. 2019 Summer;32(Supplementum2):51-71. doi: 10.14735/amko2019S51. Review.

PubMed [citation]
PMID:
31409081

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

Li H, LaDuca H, Pesaran T, Chao EC, Dolinsky JS, Parsons M, Spurdle AB, Polley EC, Shimelis H, Hart SN, Hu C, Couch FJ, Goldgar DE.

Genet Med. 2020 Apr;22(4):701-708. doi: 10.1038/s41436-019-0729-1. Epub 2019 Dec 19.

PubMed [citation]
PMID:
31853058
PMCID:
PMC7118020
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000217531.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.S1064C variant (also known as c.3190A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at nucleotide position 3190. The serine at codon 1064 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Sema4, Sema4, SCV002538190.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From University of Washington Department of Laboratory Medicine, University of Washington, SCV003852296.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024