NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys) AND not specified

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Jul 31, 2024
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:: RCV000442663.17

Allele description [Variation Report for NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys)]

NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys)

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.3082C>T (p.Arg1028Cys)

Other names:

NM_007294.4(BRCA1):c.3082C>T; p.Arg1028Cys

HGVS:

NC_000017.11:g.43092449G>A
NG_005905.2:g.125535C>T
NM_001407571.1:c.2869C>T
NM_001407581.1:c.3082C>T
NM_001407582.1:c.3082C>T
NM_001407583.1:c.3082C>T
NM_001407585.1:c.3082C>T
NM_001407587.1:c.3079C>T
NM_001407590.1:c.3079C>T
NM_001407591.1:c.3079C>T
NM_001407593.1:c.3082C>T
NM_001407594.1:c.3082C>T
NM_001407596.1:c.3082C>T
NM_001407597.1:c.3082C>T
NM_001407598.1:c.3082C>T
NM_001407602.1:c.3082C>T
NM_001407603.1:c.3082C>T
NM_001407605.1:c.3082C>T
NM_001407610.1:c.3079C>T
NM_001407611.1:c.3079C>T
NM_001407612.1:c.3079C>T
NM_001407613.1:c.3079C>T
NM_001407614.1:c.3079C>T
NM_001407615.1:c.3079C>T
NM_001407616.1:c.3082C>T
NM_001407617.1:c.3082C>T
NM_001407618.1:c.3082C>T
NM_001407619.1:c.3082C>T
NM_001407620.1:c.3082C>T
NM_001407621.1:c.3082C>T
NM_001407622.1:c.3082C>T
NM_001407623.1:c.3082C>T
NM_001407624.1:c.3082C>T
NM_001407625.1:c.3082C>T
NM_001407626.1:c.3082C>T
NM_001407627.1:c.3079C>T
NM_001407628.1:c.3079C>T
NM_001407629.1:c.3079C>T
NM_001407630.1:c.3079C>T
NM_001407631.1:c.3079C>T
NM_001407632.1:c.3079C>T
NM_001407633.1:c.3079C>T
NM_001407634.1:c.3079C>T
NM_001407635.1:c.3079C>T
NM_001407636.1:c.3079C>T
NM_001407637.1:c.3079C>T
NM_001407638.1:c.3079C>T
NM_001407639.1:c.3082C>T
NM_001407640.1:c.3082C>T
NM_001407641.1:c.3082C>T
NM_001407642.1:c.3082C>T
NM_001407644.1:c.3079C>T
NM_001407645.1:c.3079C>T
NM_001407646.1:c.3073C>T
NM_001407647.1:c.3073C>T
NM_001407648.1:c.2959C>T
NM_001407649.1:c.2956C>T
NM_001407652.1:c.3082C>T
NM_001407653.1:c.3004C>T
NM_001407654.1:c.3004C>T
NM_001407655.1:c.3004C>T
NM_001407656.1:c.3004C>T
NM_001407657.1:c.3004C>T
NM_001407658.1:c.3004C>T
NM_001407659.1:c.3001C>T
NM_001407660.1:c.3001C>T
NM_001407661.1:c.3001C>T
NM_001407662.1:c.3001C>T
NM_001407663.1:c.3004C>T
NM_001407664.1:c.2959C>T
NM_001407665.1:c.2959C>T
NM_001407666.1:c.2959C>T
NM_001407667.1:c.2959C>T
NM_001407668.1:c.2959C>T
NM_001407669.1:c.2959C>T
NM_001407670.1:c.2956C>T
NM_001407671.1:c.2956C>T
NM_001407672.1:c.2956C>T
NM_001407673.1:c.2956C>T
NM_001407674.1:c.2959C>T
NM_001407675.1:c.2959C>T
NM_001407676.1:c.2959C>T
NM_001407677.1:c.2959C>T
NM_001407678.1:c.2959C>T
NM_001407679.1:c.2959C>T
NM_001407680.1:c.2959C>T
NM_001407681.1:c.2959C>T
NM_001407682.1:c.2959C>T
NM_001407683.1:c.2959C>T
NM_001407684.1:c.3082C>T
NM_001407685.1:c.2956C>T
NM_001407686.1:c.2956C>T
NM_001407687.1:c.2956C>T
NM_001407688.1:c.2956C>T
NM_001407689.1:c.2956C>T
NM_001407690.1:c.2956C>T
NM_001407691.1:c.2956C>T
NM_001407692.1:c.2941C>T
NM_001407694.1:c.2941C>T
NM_001407695.1:c.2941C>T
NM_001407696.1:c.2941C>T
NM_001407697.1:c.2941C>T
NM_001407698.1:c.2941C>T
NM_001407724.1:c.2941C>T
NM_001407725.1:c.2941C>T
NM_001407726.1:c.2941C>T
NM_001407727.1:c.2941C>T
NM_001407728.1:c.2941C>T
NM_001407729.1:c.2941C>T
NM_001407730.1:c.2941C>T
NM_001407731.1:c.2941C>T
NM_001407732.1:c.2941C>T
NM_001407733.1:c.2941C>T
NM_001407734.1:c.2941C>T
NM_001407735.1:c.2941C>T
NM_001407736.1:c.2941C>T
NM_001407737.1:c.2941C>T
NM_001407738.1:c.2941C>T
NM_001407739.1:c.2941C>T
NM_001407740.1:c.2938C>T
NM_001407741.1:c.2938C>T
NM_001407742.1:c.2938C>T
NM_001407743.1:c.2938C>T
NM_001407744.1:c.2938C>T
NM_001407745.1:c.2938C>T
NM_001407746.1:c.2938C>T
NM_001407747.1:c.2938C>T
NM_001407748.1:c.2938C>T
NM_001407749.1:c.2938C>T
NM_001407750.1:c.2941C>T
NM_001407751.1:c.2941C>T
NM_001407752.1:c.2941C>T
NM_001407838.1:c.2938C>T
NM_001407839.1:c.2938C>T
NM_001407841.1:c.2938C>T
NM_001407842.1:c.2938C>T
NM_001407843.1:c.2938C>T
NM_001407844.1:c.2938C>T
NM_001407845.1:c.2938C>T
NM_001407846.1:c.2938C>T
NM_001407847.1:c.2938C>T
NM_001407848.1:c.2938C>T
NM_001407849.1:c.2938C>T
NM_001407850.1:c.2941C>T
NM_001407851.1:c.2941C>T
NM_001407852.1:c.2941C>T
NM_001407853.1:c.2869C>T
NM_001407854.1:c.3082C>T
NM_001407858.1:c.3082C>T
NM_001407859.1:c.3082C>T
NM_001407860.1:c.3079C>T
NM_001407861.1:c.3079C>T
NM_001407862.1:c.2881C>T
NM_001407863.1:c.2959C>T
NM_001407874.1:c.2878C>T
NM_001407875.1:c.2878C>T
NM_001407879.1:c.2872C>T
NM_001407881.1:c.2872C>T
NM_001407882.1:c.2872C>T
NM_001407884.1:c.2872C>T
NM_001407885.1:c.2872C>T
NM_001407886.1:c.2872C>T
NM_001407887.1:c.2872C>T
NM_001407889.1:c.2872C>T
NM_001407894.1:c.2869C>T
NM_001407895.1:c.2869C>T
NM_001407896.1:c.2869C>T
NM_001407897.1:c.2869C>T
NM_001407898.1:c.2869C>T
NM_001407899.1:c.2869C>T
NM_001407900.1:c.2872C>T
NM_001407902.1:c.2872C>T
NM_001407904.1:c.2872C>T
NM_001407906.1:c.2872C>T
NM_001407907.1:c.2872C>T
NM_001407908.1:c.2872C>T
NM_001407909.1:c.2872C>T
NM_001407910.1:c.2872C>T
NM_001407915.1:c.2869C>T
NM_001407916.1:c.2869C>T
NM_001407917.1:c.2869C>T
NM_001407918.1:c.2869C>T
NM_001407919.1:c.2959C>T
NM_001407920.1:c.2818C>T
NM_001407921.1:c.2818C>T
NM_001407922.1:c.2818C>T
NM_001407923.1:c.2818C>T
NM_001407924.1:c.2818C>T
NM_001407925.1:c.2818C>T
NM_001407926.1:c.2818C>T
NM_001407927.1:c.2818C>T
NM_001407928.1:c.2818C>T
NM_001407929.1:c.2818C>T
NM_001407930.1:c.2815C>T
NM_001407931.1:c.2815C>T
NM_001407932.1:c.2815C>T
NM_001407933.1:c.2818C>T
NM_001407934.1:c.2815C>T
NM_001407935.1:c.2818C>T
NM_001407936.1:c.2815C>T
NM_001407937.1:c.2959C>T
NM_001407938.1:c.2959C>T
NM_001407939.1:c.2959C>T
NM_001407940.1:c.2956C>T
NM_001407941.1:c.2956C>T
NM_001407942.1:c.2941C>T
NM_001407943.1:c.2938C>T
NM_001407944.1:c.2941C>T
NM_001407945.1:c.2941C>T
NM_001407946.1:c.2749C>T
NM_001407947.1:c.2749C>T
NM_001407948.1:c.2749C>T
NM_001407949.1:c.2749C>T
NM_001407950.1:c.2749C>T
NM_001407951.1:c.2749C>T
NM_001407952.1:c.2749C>T
NM_001407953.1:c.2749C>T
NM_001407954.1:c.2746C>T
NM_001407955.1:c.2746C>T
NM_001407956.1:c.2746C>T
NM_001407957.1:c.2749C>T
NM_001407958.1:c.2746C>T
NM_001407959.1:c.2701C>T
NM_001407960.1:c.2701C>T
NM_001407962.1:c.2698C>T
NM_001407963.1:c.2701C>T
NM_001407964.1:c.2938C>T
NM_001407965.1:c.2578C>T
NM_001407966.1:c.2194C>T
NM_001407967.1:c.2194C>T
NM_001407968.1:c.788-310C>T
NM_001407969.1:c.788-310C>T
NM_001407970.1:c.788-1417C>T
NM_001407971.1:c.788-1417C>T
NM_001407972.1:c.785-1417C>T
NM_001407973.1:c.788-1417C>T
NM_001407974.1:c.788-1417C>T
NM_001407975.1:c.788-1417C>T
NM_001407976.1:c.788-1417C>T
NM_001407977.1:c.788-1417C>T
NM_001407978.1:c.788-1417C>T
NM_001407979.1:c.788-1417C>T
NM_001407980.1:c.788-1417C>T
NM_001407981.1:c.788-1417C>T
NM_001407982.1:c.788-1417C>T
NM_001407983.1:c.788-1417C>T
NM_001407984.1:c.785-1417C>T
NM_001407985.1:c.785-1417C>T
NM_001407986.1:c.785-1417C>T
NM_001407990.1:c.788-1417C>T
NM_001407991.1:c.785-1417C>T
NM_001407992.1:c.785-1417C>T
NM_001407993.1:c.788-1417C>T
NM_001408392.1:c.785-1417C>T
NM_001408396.1:c.785-1417C>T
NM_001408397.1:c.785-1417C>T
NM_001408398.1:c.785-1417C>T
NM_001408399.1:c.785-1417C>T
NM_001408400.1:c.785-1417C>T
NM_001408401.1:c.785-1417C>T
NM_001408402.1:c.785-1417C>T
NM_001408403.1:c.788-1417C>T
NM_001408404.1:c.788-1417C>T
NM_001408406.1:c.791-1426C>T
NM_001408407.1:c.785-1417C>T
NM_001408408.1:c.779-1417C>T
NM_001408409.1:c.710-1417C>T
NM_001408410.1:c.647-1417C>T
NM_001408411.1:c.710-1417C>T
NM_001408412.1:c.710-1417C>T
NM_001408413.1:c.707-1417C>T
NM_001408414.1:c.710-1417C>T
NM_001408415.1:c.710-1417C>T
NM_001408416.1:c.707-1417C>T
NM_001408418.1:c.671-1417C>T
NM_001408419.1:c.671-1417C>T
NM_001408420.1:c.671-1417C>T
NM_001408421.1:c.668-1417C>T
NM_001408422.1:c.671-1417C>T
NM_001408423.1:c.671-1417C>T
NM_001408424.1:c.668-1417C>T
NM_001408425.1:c.665-1417C>T
NM_001408426.1:c.665-1417C>T
NM_001408427.1:c.665-1417C>T
NM_001408428.1:c.665-1417C>T
NM_001408429.1:c.665-1417C>T
NM_001408430.1:c.665-1417C>T
NM_001408431.1:c.668-1417C>T
NM_001408432.1:c.662-1417C>T
NM_001408433.1:c.662-1417C>T
NM_001408434.1:c.662-1417C>T
NM_001408435.1:c.662-1417C>T
NM_001408436.1:c.665-1417C>T
NM_001408437.1:c.665-1417C>T
NM_001408438.1:c.665-1417C>T
NM_001408439.1:c.665-1417C>T
NM_001408440.1:c.665-1417C>T
NM_001408441.1:c.665-1417C>T
NM_001408442.1:c.665-1417C>T
NM_001408443.1:c.665-1417C>T
NM_001408444.1:c.665-1417C>T
NM_001408445.1:c.662-1417C>T
NM_001408446.1:c.662-1417C>T
NM_001408447.1:c.662-1417C>T
NM_001408448.1:c.662-1417C>T
NM_001408450.1:c.662-1417C>T
NM_001408451.1:c.653-1417C>T
NM_001408452.1:c.647-1417C>T
NM_001408453.1:c.647-1417C>T
NM_001408454.1:c.647-1417C>T
NM_001408455.1:c.647-1417C>T
NM_001408456.1:c.647-1417C>T
NM_001408457.1:c.647-1417C>T
NM_001408458.1:c.647-1417C>T
NM_001408459.1:c.647-1417C>T
NM_001408460.1:c.647-1417C>T
NM_001408461.1:c.647-1417C>T
NM_001408462.1:c.644-1417C>T
NM_001408463.1:c.644-1417C>T
NM_001408464.1:c.644-1417C>T
NM_001408465.1:c.644-1417C>T
NM_001408466.1:c.647-1417C>T
NM_001408467.1:c.647-1417C>T
NM_001408468.1:c.644-1417C>T
NM_001408469.1:c.647-1417C>T
NM_001408470.1:c.644-1417C>T
NM_001408472.1:c.788-1417C>T
NM_001408473.1:c.785-1417C>T
NM_001408474.1:c.587-1417C>T
NM_001408475.1:c.584-1417C>T
NM_001408476.1:c.587-1417C>T
NM_001408478.1:c.578-1417C>T
NM_001408479.1:c.578-1417C>T
NM_001408480.1:c.578-1417C>T
NM_001408481.1:c.578-1417C>T
NM_001408482.1:c.578-1417C>T
NM_001408483.1:c.578-1417C>T
NM_001408484.1:c.578-1417C>T
NM_001408485.1:c.578-1417C>T
NM_001408489.1:c.578-1417C>T
NM_001408490.1:c.575-1417C>T
NM_001408491.1:c.575-1417C>T
NM_001408492.1:c.578-1417C>T
NM_001408493.1:c.575-1417C>T
NM_001408494.1:c.548-1417C>T
NM_001408495.1:c.545-1417C>T
NM_001408496.1:c.524-1417C>T
NM_001408497.1:c.524-1417C>T
NM_001408498.1:c.524-1417C>T
NM_001408499.1:c.524-1417C>T
NM_001408500.1:c.524-1417C>T
NM_001408501.1:c.524-1417C>T
NM_001408502.1:c.455-1417C>T
NM_001408503.1:c.521-1417C>T
NM_001408504.1:c.521-1417C>T
NM_001408505.1:c.521-1417C>T
NM_001408506.1:c.461-1417C>T
NM_001408507.1:c.461-1417C>T
NM_001408508.1:c.452-1417C>T
NM_001408509.1:c.452-1417C>T
NM_001408510.1:c.407-1417C>T
NM_001408511.1:c.404-1417C>T
NM_001408512.1:c.284-1417C>T
NM_001408513.1:c.578-1417C>T
NM_001408514.1:c.578-1417C>T
NM_007294.4:c.3082C>TMANE SELECT
NM_007297.4:c.2941C>T
NM_007298.4:c.788-1417C>T
NM_007299.4:c.788-1417C>T
NM_007300.4:c.3082C>T
NP_001394500.1:p.Arg957Cys
NP_001394510.1:p.Arg1028Cys
NP_001394511.1:p.Arg1028Cys
NP_001394512.1:p.Arg1028Cys
NP_001394514.1:p.Arg1028Cys
NP_001394516.1:p.Arg1027Cys
NP_001394519.1:p.Arg1027Cys
NP_001394520.1:p.Arg1027Cys
NP_001394522.1:p.Arg1028Cys
NP_001394523.1:p.Arg1028Cys
NP_001394525.1:p.Arg1028Cys
NP_001394526.1:p.Arg1028Cys
NP_001394527.1:p.Arg1028Cys
NP_001394531.1:p.Arg1028Cys
NP_001394532.1:p.Arg1028Cys
NP_001394534.1:p.Arg1028Cys
NP_001394539.1:p.Arg1027Cys
NP_001394540.1:p.Arg1027Cys
NP_001394541.1:p.Arg1027Cys
NP_001394542.1:p.Arg1027Cys
NP_001394543.1:p.Arg1027Cys
NP_001394544.1:p.Arg1027Cys
NP_001394545.1:p.Arg1028Cys
NP_001394546.1:p.Arg1028Cys
NP_001394547.1:p.Arg1028Cys
NP_001394548.1:p.Arg1028Cys
NP_001394549.1:p.Arg1028Cys
NP_001394550.1:p.Arg1028Cys
NP_001394551.1:p.Arg1028Cys
NP_001394552.1:p.Arg1028Cys
NP_001394553.1:p.Arg1028Cys
NP_001394554.1:p.Arg1028Cys
NP_001394555.1:p.Arg1028Cys
NP_001394556.1:p.Arg1027Cys
NP_001394557.1:p.Arg1027Cys
NP_001394558.1:p.Arg1027Cys
NP_001394559.1:p.Arg1027Cys
NP_001394560.1:p.Arg1027Cys
NP_001394561.1:p.Arg1027Cys
NP_001394562.1:p.Arg1027Cys
NP_001394563.1:p.Arg1027Cys
NP_001394564.1:p.Arg1027Cys
NP_001394565.1:p.Arg1027Cys
NP_001394566.1:p.Arg1027Cys
NP_001394567.1:p.Arg1027Cys
NP_001394568.1:p.Arg1028Cys
NP_001394569.1:p.Arg1028Cys
NP_001394570.1:p.Arg1028Cys
NP_001394571.1:p.Arg1028Cys
NP_001394573.1:p.Arg1027Cys
NP_001394574.1:p.Arg1027Cys
NP_001394575.1:p.Arg1025Cys
NP_001394576.1:p.Arg1025Cys
NP_001394577.1:p.Arg987Cys
NP_001394578.1:p.Arg986Cys
NP_001394581.1:p.Arg1028Cys
NP_001394582.1:p.Arg1002Cys
NP_001394583.1:p.Arg1002Cys
NP_001394584.1:p.Arg1002Cys
NP_001394585.1:p.Arg1002Cys
NP_001394586.1:p.Arg1002Cys
NP_001394587.1:p.Arg1002Cys
NP_001394588.1:p.Arg1001Cys
NP_001394589.1:p.Arg1001Cys
NP_001394590.1:p.Arg1001Cys
NP_001394591.1:p.Arg1001Cys
NP_001394592.1:p.Arg1002Cys
NP_001394593.1:p.Arg987Cys
NP_001394594.1:p.Arg987Cys
NP_001394595.1:p.Arg987Cys
NP_001394596.1:p.Arg987Cys
NP_001394597.1:p.Arg987Cys
NP_001394598.1:p.Arg987Cys
NP_001394599.1:p.Arg986Cys
NP_001394600.1:p.Arg986Cys
NP_001394601.1:p.Arg986Cys
NP_001394602.1:p.Arg986Cys
NP_001394603.1:p.Arg987Cys
NP_001394604.1:p.Arg987Cys
NP_001394605.1:p.Arg987Cys
NP_001394606.1:p.Arg987Cys
NP_001394607.1:p.Arg987Cys
NP_001394608.1:p.Arg987Cys
NP_001394609.1:p.Arg987Cys
NP_001394610.1:p.Arg987Cys
NP_001394611.1:p.Arg987Cys
NP_001394612.1:p.Arg987Cys
NP_001394613.1:p.Arg1028Cys
NP_001394614.1:p.Arg986Cys
NP_001394615.1:p.Arg986Cys
NP_001394616.1:p.Arg986Cys
NP_001394617.1:p.Arg986Cys
NP_001394618.1:p.Arg986Cys
NP_001394619.1:p.Arg986Cys
NP_001394620.1:p.Arg986Cys
NP_001394621.1:p.Arg981Cys
NP_001394623.1:p.Arg981Cys
NP_001394624.1:p.Arg981Cys
NP_001394625.1:p.Arg981Cys
NP_001394626.1:p.Arg981Cys
NP_001394627.1:p.Arg981Cys
NP_001394653.1:p.Arg981Cys
NP_001394654.1:p.Arg981Cys
NP_001394655.1:p.Arg981Cys
NP_001394656.1:p.Arg981Cys
NP_001394657.1:p.Arg981Cys
NP_001394658.1:p.Arg981Cys
NP_001394659.1:p.Arg981Cys
NP_001394660.1:p.Arg981Cys
NP_001394661.1:p.Arg981Cys
NP_001394662.1:p.Arg981Cys
NP_001394663.1:p.Arg981Cys
NP_001394664.1:p.Arg981Cys
NP_001394665.1:p.Arg981Cys
NP_001394666.1:p.Arg981Cys
NP_001394667.1:p.Arg981Cys
NP_001394668.1:p.Arg981Cys
NP_001394669.1:p.Arg980Cys
NP_001394670.1:p.Arg980Cys
NP_001394671.1:p.Arg980Cys
NP_001394672.1:p.Arg980Cys
NP_001394673.1:p.Arg980Cys
NP_001394674.1:p.Arg980Cys
NP_001394675.1:p.Arg980Cys
NP_001394676.1:p.Arg980Cys
NP_001394677.1:p.Arg980Cys
NP_001394678.1:p.Arg980Cys
NP_001394679.1:p.Arg981Cys
NP_001394680.1:p.Arg981Cys
NP_001394681.1:p.Arg981Cys
NP_001394767.1:p.Arg980Cys
NP_001394768.1:p.Arg980Cys
NP_001394770.1:p.Arg980Cys
NP_001394771.1:p.Arg980Cys
NP_001394772.1:p.Arg980Cys
NP_001394773.1:p.Arg980Cys
NP_001394774.1:p.Arg980Cys
NP_001394775.1:p.Arg980Cys
NP_001394776.1:p.Arg980Cys
NP_001394777.1:p.Arg980Cys
NP_001394778.1:p.Arg980Cys
NP_001394779.1:p.Arg981Cys
NP_001394780.1:p.Arg981Cys
NP_001394781.1:p.Arg981Cys
NP_001394782.1:p.Arg957Cys
NP_001394783.1:p.Arg1028Cys
NP_001394787.1:p.Arg1028Cys
NP_001394788.1:p.Arg1028Cys
NP_001394789.1:p.Arg1027Cys
NP_001394790.1:p.Arg1027Cys
NP_001394791.1:p.Arg961Cys
NP_001394792.1:p.Arg987Cys
NP_001394803.1:p.Arg960Cys
NP_001394804.1:p.Arg960Cys
NP_001394808.1:p.Arg958Cys
NP_001394810.1:p.Arg958Cys
NP_001394811.1:p.Arg958Cys
NP_001394813.1:p.Arg958Cys
NP_001394814.1:p.Arg958Cys
NP_001394815.1:p.Arg958Cys
NP_001394816.1:p.Arg958Cys
NP_001394818.1:p.Arg958Cys
NP_001394823.1:p.Arg957Cys
NP_001394824.1:p.Arg957Cys
NP_001394825.1:p.Arg957Cys
NP_001394826.1:p.Arg957Cys
NP_001394827.1:p.Arg957Cys
NP_001394828.1:p.Arg957Cys
NP_001394829.1:p.Arg958Cys
NP_001394831.1:p.Arg958Cys
NP_001394833.1:p.Arg958Cys
NP_001394835.1:p.Arg958Cys
NP_001394836.1:p.Arg958Cys
NP_001394837.1:p.Arg958Cys
NP_001394838.1:p.Arg958Cys
NP_001394839.1:p.Arg958Cys
NP_001394844.1:p.Arg957Cys
NP_001394845.1:p.Arg957Cys
NP_001394846.1:p.Arg957Cys
NP_001394847.1:p.Arg957Cys
NP_001394848.1:p.Arg987Cys
NP_001394849.1:p.Arg940Cys
NP_001394850.1:p.Arg940Cys
NP_001394851.1:p.Arg940Cys
NP_001394852.1:p.Arg940Cys
NP_001394853.1:p.Arg940Cys
NP_001394854.1:p.Arg940Cys
NP_001394855.1:p.Arg940Cys
NP_001394856.1:p.Arg940Cys
NP_001394857.1:p.Arg940Cys
NP_001394858.1:p.Arg940Cys
NP_001394859.1:p.Arg939Cys
NP_001394860.1:p.Arg939Cys
NP_001394861.1:p.Arg939Cys
NP_001394862.1:p.Arg940Cys
NP_001394863.1:p.Arg939Cys
NP_001394864.1:p.Arg940Cys
NP_001394865.1:p.Arg939Cys
NP_001394866.1:p.Arg987Cys
NP_001394867.1:p.Arg987Cys
NP_001394868.1:p.Arg987Cys
NP_001394869.1:p.Arg986Cys
NP_001394870.1:p.Arg986Cys
NP_001394871.1:p.Arg981Cys
NP_001394872.1:p.Arg980Cys
NP_001394873.1:p.Arg981Cys
NP_001394874.1:p.Arg981Cys
NP_001394875.1:p.Arg917Cys
NP_001394876.1:p.Arg917Cys
NP_001394877.1:p.Arg917Cys
NP_001394878.1:p.Arg917Cys
NP_001394879.1:p.Arg917Cys
NP_001394880.1:p.Arg917Cys
NP_001394881.1:p.Arg917Cys
NP_001394882.1:p.Arg917Cys
NP_001394883.1:p.Arg916Cys
NP_001394884.1:p.Arg916Cys
NP_001394885.1:p.Arg916Cys
NP_001394886.1:p.Arg917Cys
NP_001394887.1:p.Arg916Cys
NP_001394888.1:p.Arg901Cys
NP_001394889.1:p.Arg901Cys
NP_001394891.1:p.Arg900Cys
NP_001394892.1:p.Arg901Cys
NP_001394893.1:p.Arg980Cys
NP_001394894.1:p.Arg860Cys
NP_001394895.1:p.Arg732Cys
NP_001394896.1:p.Arg732Cys
NP_009225.1:p.Arg1028Cys
NP_009225.1:p.Arg1028Cys
NP_009228.2:p.Arg981Cys
NP_009231.2:p.Arg1028Cys
LRG_292t1:c.3082C>T
LRG_292:g.125535C>T
LRG_292p1:p.Arg1028Cys
NC_000017.10:g.41244466G>A
NM_007294.3:c.3082C>T
NR_027676.1:n.3218C>T
U14680.1:n.3201C>T
p.R1028C

Nucleotide change:

3201C>T

Protein change:

R1001C

Links:

dbSNP: rs80357049

NCBI 1000 Genomes Browser:

rs80357049

Molecular consequence:

NM_001407968.1:c.788-310C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-310C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1426C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1417C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.2869C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.3073C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.3073C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.2956C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.3004C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.3004C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.3004C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.3004C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.3004C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.3004C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.3001C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.3001C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.3001C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.3001C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.3004C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.2956C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.2956C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.2956C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.2956C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.2956C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.2956C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.2956C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.2956C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.2956C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.2956C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.2956C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.2869C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.3079C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.2881C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.2878C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.2878C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.2869C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.2869C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.2869C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.2869C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.2869C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.2869C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.2872C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.2869C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.2869C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.2869C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.2869C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.2818C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.2818C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.2818C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.2818C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.2818C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.2818C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.2818C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.2818C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.2818C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.2818C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.2815C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.2815C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.2815C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.2818C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.2815C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.2818C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.2815C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.2959C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.2956C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.2956C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.2749C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.2749C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.2749C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.2749C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.2749C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.2749C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.2749C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.2749C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.2746C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.2746C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.2746C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.2749C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.2746C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.2701C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.2701C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.2698C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.2701C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.2938C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.2578C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.2194C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.2194C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.2941C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.3082C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

mitochondrial adenyl nucleotide antiporter SLC25A25 isoform a [Homo sapiens]
mitochondrial adenyl nucleotide antiporter SLC25A25 isoform a [Homo sapiens]
gi|56699401|ref|NP_443133.2|

Protein
xl11001F07F_1400379 Xenopus ORFeome version 1.0 library Xenopus laevis cDNA clon...
xl11001F07F_1400379 Xenopus ORFeome version 1.0 library Xenopus laevis cDNA clone xl11001F07 5', mRNA sequence
gi|798017727|gnl|dbEST|79656914|gb| 212.1|

Nucleotide
Tfpi protein [Mus musculus]
Tfpi protein [Mus musculus]
gi|23271605|gb|AAH36146.1|

Protein
gmfg.S glia maturation factor, gamma S homeolog [Xenopus laevis]
gmfg.S glia maturation factor, gamma S homeolog [Xenopus laevis]
Gene ID:414456

Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001361790	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Dec 20, 2019)	germline	clinical testing	PubMed (9) [See all records that cite these PMIDs] 16518693, 15385441, 20858050, 10882858, 25782689, 27376475, 27062684, 29435075, 27997699 Citation Link,
SCV002065817	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Dec 16, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005090350	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Jul 31, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001361790

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Dec 20, 2019)

germline

clinical testing

PubMed (9)
[See all records that cite these PMIDs]

Citation Link,

SCV002065817

Genetic Services Laboratory, University of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Dec 16, 2021)

germline

clinical testing

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

SCV005090350

Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Jul 31, 2024)

germline

clinical testing

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

Help

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
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Natural selection and mammalian BRCA1 sequences: elucidating functionally important sites relevant to breast cancer susceptibility in humans.

Burk-Herrick A, Scally M, Amrine-Madsen H, Stanhope MJ, Springer MS.

Mamm Genome. 2006 Mar;17(3):257-70. Epub 2006 Mar 3.

PubMed [citation]

PMID:: 16518693

Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition.

Pavlicek A, Noskov VN, Kouprina N, Barrett JC, Jurka J, Larionov V.

Hum Mol Genet. 2004 Nov 15;13(22):2737-51. Epub 2004 Sep 22.

PubMed [citation]

PMID:: 15385441

See all PubMed Citations (10)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001361790.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (9)

Description

Variant summary: BRCA1 c.3082C>T (p.Arg1028Cys) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 251110 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.3082C>T has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer (e.g. Klemp_2000, Coulet_2010, Azzollini_2016, Schenkel_2016) and endometrioid cancer (Garcia-Sanz_2016) without strong evidence for causality. These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. The variant has also been found as a homozygous variant in a patient with a history of chronic lymphatic leukemia and breast cancer, but who did not exhibit symptoms typical of Fanconi anemia, as would be expected in a homozygous patient if the variant were pathogenic (Bondavalli_2018). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar (evaluation after 2014) and cited the variant as likley benign (n=4) and uncertain significance (n=1) . Based on the evidence outlined above, the variant was classified as VUS-possibly benign.

#	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 Genetic Services Laboratory, University of Chicago, SCV002065817.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV005090350.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	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: Nov 10, 2024

ClinVar

Relating variation to medicine