NM_007294.4(BRCA1):c.3049G>T (p.Glu1017Ter) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (5 submissions)
Last evaluated:: Sep 8, 2016
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000111993.16

Allele description [Variation Report for NM_007294.4(BRCA1):c.3049G>T (p.Glu1017Ter)]

NM_007294.4(BRCA1):c.3049G>T (p.Glu1017Ter)

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.3049G>T (p.Glu1017Ter)

HGVS:

NC_000017.11:g.43092482C>A
NG_005905.2:g.125502G>T
NM_001407571.1:c.2836G>T
NM_001407581.1:c.3049G>T
NM_001407582.1:c.3049G>T
NM_001407583.1:c.3049G>T
NM_001407585.1:c.3049G>T
NM_001407587.1:c.3046G>T
NM_001407590.1:c.3046G>T
NM_001407591.1:c.3046G>T
NM_001407593.1:c.3049G>T
NM_001407594.1:c.3049G>T
NM_001407596.1:c.3049G>T
NM_001407597.1:c.3049G>T
NM_001407598.1:c.3049G>T
NM_001407602.1:c.3049G>T
NM_001407603.1:c.3049G>T
NM_001407605.1:c.3049G>T
NM_001407610.1:c.3046G>T
NM_001407611.1:c.3046G>T
NM_001407612.1:c.3046G>T
NM_001407613.1:c.3046G>T
NM_001407614.1:c.3046G>T
NM_001407615.1:c.3046G>T
NM_001407616.1:c.3049G>T
NM_001407617.1:c.3049G>T
NM_001407618.1:c.3049G>T
NM_001407619.1:c.3049G>T
NM_001407620.1:c.3049G>T
NM_001407621.1:c.3049G>T
NM_001407622.1:c.3049G>T
NM_001407623.1:c.3049G>T
NM_001407624.1:c.3049G>T
NM_001407625.1:c.3049G>T
NM_001407626.1:c.3049G>T
NM_001407627.1:c.3046G>T
NM_001407628.1:c.3046G>T
NM_001407629.1:c.3046G>T
NM_001407630.1:c.3046G>T
NM_001407631.1:c.3046G>T
NM_001407632.1:c.3046G>T
NM_001407633.1:c.3046G>T
NM_001407634.1:c.3046G>T
NM_001407635.1:c.3046G>T
NM_001407636.1:c.3046G>T
NM_001407637.1:c.3046G>T
NM_001407638.1:c.3046G>T
NM_001407639.1:c.3049G>T
NM_001407640.1:c.3049G>T
NM_001407641.1:c.3049G>T
NM_001407642.1:c.3049G>T
NM_001407644.1:c.3046G>T
NM_001407645.1:c.3046G>T
NM_001407646.1:c.3040G>T
NM_001407647.1:c.3040G>T
NM_001407648.1:c.2926G>T
NM_001407649.1:c.2923G>T
NM_001407652.1:c.3049G>T
NM_001407653.1:c.2971G>T
NM_001407654.1:c.2971G>T
NM_001407655.1:c.2971G>T
NM_001407656.1:c.2971G>T
NM_001407657.1:c.2971G>T
NM_001407658.1:c.2971G>T
NM_001407659.1:c.2968G>T
NM_001407660.1:c.2968G>T
NM_001407661.1:c.2968G>T
NM_001407662.1:c.2968G>T
NM_001407663.1:c.2971G>T
NM_001407664.1:c.2926G>T
NM_001407665.1:c.2926G>T
NM_001407666.1:c.2926G>T
NM_001407667.1:c.2926G>T
NM_001407668.1:c.2926G>T
NM_001407669.1:c.2926G>T
NM_001407670.1:c.2923G>T
NM_001407671.1:c.2923G>T
NM_001407672.1:c.2923G>T
NM_001407673.1:c.2923G>T
NM_001407674.1:c.2926G>T
NM_001407675.1:c.2926G>T
NM_001407676.1:c.2926G>T
NM_001407677.1:c.2926G>T
NM_001407678.1:c.2926G>T
NM_001407679.1:c.2926G>T
NM_001407680.1:c.2926G>T
NM_001407681.1:c.2926G>T
NM_001407682.1:c.2926G>T
NM_001407683.1:c.2926G>T
NM_001407684.1:c.3049G>T
NM_001407685.1:c.2923G>T
NM_001407686.1:c.2923G>T
NM_001407687.1:c.2923G>T
NM_001407688.1:c.2923G>T
NM_001407689.1:c.2923G>T
NM_001407690.1:c.2923G>T
NM_001407691.1:c.2923G>T
NM_001407692.1:c.2908G>T
NM_001407694.1:c.2908G>T
NM_001407695.1:c.2908G>T
NM_001407696.1:c.2908G>T
NM_001407697.1:c.2908G>T
NM_001407698.1:c.2908G>T
NM_001407724.1:c.2908G>T
NM_001407725.1:c.2908G>T
NM_001407726.1:c.2908G>T
NM_001407727.1:c.2908G>T
NM_001407728.1:c.2908G>T
NM_001407729.1:c.2908G>T
NM_001407730.1:c.2908G>T
NM_001407731.1:c.2908G>T
NM_001407732.1:c.2908G>T
NM_001407733.1:c.2908G>T
NM_001407734.1:c.2908G>T
NM_001407735.1:c.2908G>T
NM_001407736.1:c.2908G>T
NM_001407737.1:c.2908G>T
NM_001407738.1:c.2908G>T
NM_001407739.1:c.2908G>T
NM_001407740.1:c.2905G>T
NM_001407741.1:c.2905G>T
NM_001407742.1:c.2905G>T
NM_001407743.1:c.2905G>T
NM_001407744.1:c.2905G>T
NM_001407745.1:c.2905G>T
NM_001407746.1:c.2905G>T
NM_001407747.1:c.2905G>T
NM_001407748.1:c.2905G>T
NM_001407749.1:c.2905G>T
NM_001407750.1:c.2908G>T
NM_001407751.1:c.2908G>T
NM_001407752.1:c.2908G>T
NM_001407838.1:c.2905G>T
NM_001407839.1:c.2905G>T
NM_001407841.1:c.2905G>T
NM_001407842.1:c.2905G>T
NM_001407843.1:c.2905G>T
NM_001407844.1:c.2905G>T
NM_001407845.1:c.2905G>T
NM_001407846.1:c.2905G>T
NM_001407847.1:c.2905G>T
NM_001407848.1:c.2905G>T
NM_001407849.1:c.2905G>T
NM_001407850.1:c.2908G>T
NM_001407851.1:c.2908G>T
NM_001407852.1:c.2908G>T
NM_001407853.1:c.2836G>T
NM_001407854.1:c.3049G>T
NM_001407858.1:c.3049G>T
NM_001407859.1:c.3049G>T
NM_001407860.1:c.3046G>T
NM_001407861.1:c.3046G>T
NM_001407862.1:c.2848G>T
NM_001407863.1:c.2926G>T
NM_001407874.1:c.2845G>T
NM_001407875.1:c.2845G>T
NM_001407879.1:c.2839G>T
NM_001407881.1:c.2839G>T
NM_001407882.1:c.2839G>T
NM_001407884.1:c.2839G>T
NM_001407885.1:c.2839G>T
NM_001407886.1:c.2839G>T
NM_001407887.1:c.2839G>T
NM_001407889.1:c.2839G>T
NM_001407894.1:c.2836G>T
NM_001407895.1:c.2836G>T
NM_001407896.1:c.2836G>T
NM_001407897.1:c.2836G>T
NM_001407898.1:c.2836G>T
NM_001407899.1:c.2836G>T
NM_001407900.1:c.2839G>T
NM_001407902.1:c.2839G>T
NM_001407904.1:c.2839G>T
NM_001407906.1:c.2839G>T
NM_001407907.1:c.2839G>T
NM_001407908.1:c.2839G>T
NM_001407909.1:c.2839G>T
NM_001407910.1:c.2839G>T
NM_001407915.1:c.2836G>T
NM_001407916.1:c.2836G>T
NM_001407917.1:c.2836G>T
NM_001407918.1:c.2836G>T
NM_001407919.1:c.2926G>T
NM_001407920.1:c.2785G>T
NM_001407921.1:c.2785G>T
NM_001407922.1:c.2785G>T
NM_001407923.1:c.2785G>T
NM_001407924.1:c.2785G>T
NM_001407925.1:c.2785G>T
NM_001407926.1:c.2785G>T
NM_001407927.1:c.2785G>T
NM_001407928.1:c.2785G>T
NM_001407929.1:c.2785G>T
NM_001407930.1:c.2782G>T
NM_001407931.1:c.2782G>T
NM_001407932.1:c.2782G>T
NM_001407933.1:c.2785G>T
NM_001407934.1:c.2782G>T
NM_001407935.1:c.2785G>T
NM_001407936.1:c.2782G>T
NM_001407937.1:c.2926G>T
NM_001407938.1:c.2926G>T
NM_001407939.1:c.2926G>T
NM_001407940.1:c.2923G>T
NM_001407941.1:c.2923G>T
NM_001407942.1:c.2908G>T
NM_001407943.1:c.2905G>T
NM_001407944.1:c.2908G>T
NM_001407945.1:c.2908G>T
NM_001407946.1:c.2716G>T
NM_001407947.1:c.2716G>T
NM_001407948.1:c.2716G>T
NM_001407949.1:c.2716G>T
NM_001407950.1:c.2716G>T
NM_001407951.1:c.2716G>T
NM_001407952.1:c.2716G>T
NM_001407953.1:c.2716G>T
NM_001407954.1:c.2713G>T
NM_001407955.1:c.2713G>T
NM_001407956.1:c.2713G>T
NM_001407957.1:c.2716G>T
NM_001407958.1:c.2713G>T
NM_001407959.1:c.2668G>T
NM_001407960.1:c.2668G>T
NM_001407962.1:c.2665G>T
NM_001407963.1:c.2668G>T
NM_001407964.1:c.2905G>T
NM_001407965.1:c.2545G>T
NM_001407966.1:c.2161G>T
NM_001407967.1:c.2161G>T
NM_001407968.1:c.788-343G>T
NM_001407969.1:c.788-343G>T
NM_001407970.1:c.788-1450G>T
NM_001407971.1:c.788-1450G>T
NM_001407972.1:c.785-1450G>T
NM_001407973.1:c.788-1450G>T
NM_001407974.1:c.788-1450G>T
NM_001407975.1:c.788-1450G>T
NM_001407976.1:c.788-1450G>T
NM_001407977.1:c.788-1450G>T
NM_001407978.1:c.788-1450G>T
NM_001407979.1:c.788-1450G>T
NM_001407980.1:c.788-1450G>T
NM_001407981.1:c.788-1450G>T
NM_001407982.1:c.788-1450G>T
NM_001407983.1:c.788-1450G>T
NM_001407984.1:c.785-1450G>T
NM_001407985.1:c.785-1450G>T
NM_001407986.1:c.785-1450G>T
NM_001407990.1:c.788-1450G>T
NM_001407991.1:c.785-1450G>T
NM_001407992.1:c.785-1450G>T
NM_001407993.1:c.788-1450G>T
NM_001408392.1:c.785-1450G>T
NM_001408396.1:c.785-1450G>T
NM_001408397.1:c.785-1450G>T
NM_001408398.1:c.785-1450G>T
NM_001408399.1:c.785-1450G>T
NM_001408400.1:c.785-1450G>T
NM_001408401.1:c.785-1450G>T
NM_001408402.1:c.785-1450G>T
NM_001408403.1:c.788-1450G>T
NM_001408404.1:c.788-1450G>T
NM_001408406.1:c.791-1459G>T
NM_001408407.1:c.785-1450G>T
NM_001408408.1:c.779-1450G>T
NM_001408409.1:c.710-1450G>T
NM_001408410.1:c.647-1450G>T
NM_001408411.1:c.710-1450G>T
NM_001408412.1:c.710-1450G>T
NM_001408413.1:c.707-1450G>T
NM_001408414.1:c.710-1450G>T
NM_001408415.1:c.710-1450G>T
NM_001408416.1:c.707-1450G>T
NM_001408418.1:c.671-1450G>T
NM_001408419.1:c.671-1450G>T
NM_001408420.1:c.671-1450G>T
NM_001408421.1:c.668-1450G>T
NM_001408422.1:c.671-1450G>T
NM_001408423.1:c.671-1450G>T
NM_001408424.1:c.668-1450G>T
NM_001408425.1:c.665-1450G>T
NM_001408426.1:c.665-1450G>T
NM_001408427.1:c.665-1450G>T
NM_001408428.1:c.665-1450G>T
NM_001408429.1:c.665-1450G>T
NM_001408430.1:c.665-1450G>T
NM_001408431.1:c.668-1450G>T
NM_001408432.1:c.662-1450G>T
NM_001408433.1:c.662-1450G>T
NM_001408434.1:c.662-1450G>T
NM_001408435.1:c.662-1450G>T
NM_001408436.1:c.665-1450G>T
NM_001408437.1:c.665-1450G>T
NM_001408438.1:c.665-1450G>T
NM_001408439.1:c.665-1450G>T
NM_001408440.1:c.665-1450G>T
NM_001408441.1:c.665-1450G>T
NM_001408442.1:c.665-1450G>T
NM_001408443.1:c.665-1450G>T
NM_001408444.1:c.665-1450G>T
NM_001408445.1:c.662-1450G>T
NM_001408446.1:c.662-1450G>T
NM_001408447.1:c.662-1450G>T
NM_001408448.1:c.662-1450G>T
NM_001408450.1:c.662-1450G>T
NM_001408451.1:c.653-1450G>T
NM_001408452.1:c.647-1450G>T
NM_001408453.1:c.647-1450G>T
NM_001408454.1:c.647-1450G>T
NM_001408455.1:c.647-1450G>T
NM_001408456.1:c.647-1450G>T
NM_001408457.1:c.647-1450G>T
NM_001408458.1:c.647-1450G>T
NM_001408459.1:c.647-1450G>T
NM_001408460.1:c.647-1450G>T
NM_001408461.1:c.647-1450G>T
NM_001408462.1:c.644-1450G>T
NM_001408463.1:c.644-1450G>T
NM_001408464.1:c.644-1450G>T
NM_001408465.1:c.644-1450G>T
NM_001408466.1:c.647-1450G>T
NM_001408467.1:c.647-1450G>T
NM_001408468.1:c.644-1450G>T
NM_001408469.1:c.647-1450G>T
NM_001408470.1:c.644-1450G>T
NM_001408472.1:c.788-1450G>T
NM_001408473.1:c.785-1450G>T
NM_001408474.1:c.587-1450G>T
NM_001408475.1:c.584-1450G>T
NM_001408476.1:c.587-1450G>T
NM_001408478.1:c.578-1450G>T
NM_001408479.1:c.578-1450G>T
NM_001408480.1:c.578-1450G>T
NM_001408481.1:c.578-1450G>T
NM_001408482.1:c.578-1450G>T
NM_001408483.1:c.578-1450G>T
NM_001408484.1:c.578-1450G>T
NM_001408485.1:c.578-1450G>T
NM_001408489.1:c.578-1450G>T
NM_001408490.1:c.575-1450G>T
NM_001408491.1:c.575-1450G>T
NM_001408492.1:c.578-1450G>T
NM_001408493.1:c.575-1450G>T
NM_001408494.1:c.548-1450G>T
NM_001408495.1:c.545-1450G>T
NM_001408496.1:c.524-1450G>T
NM_001408497.1:c.524-1450G>T
NM_001408498.1:c.524-1450G>T
NM_001408499.1:c.524-1450G>T
NM_001408500.1:c.524-1450G>T
NM_001408501.1:c.524-1450G>T
NM_001408502.1:c.455-1450G>T
NM_001408503.1:c.521-1450G>T
NM_001408504.1:c.521-1450G>T
NM_001408505.1:c.521-1450G>T
NM_001408506.1:c.461-1450G>T
NM_001408507.1:c.461-1450G>T
NM_001408508.1:c.452-1450G>T
NM_001408509.1:c.452-1450G>T
NM_001408510.1:c.407-1450G>T
NM_001408511.1:c.404-1450G>T
NM_001408512.1:c.284-1450G>T
NM_001408513.1:c.578-1450G>T
NM_001408514.1:c.578-1450G>T
NM_007294.4:c.3049G>TMANE SELECT
NM_007297.4:c.2908G>T
NM_007298.4:c.788-1450G>T
NM_007299.4:c.788-1450G>T
NM_007300.4:c.3049G>T
NP_001394500.1:p.Glu946Ter
NP_001394510.1:p.Glu1017Ter
NP_001394511.1:p.Glu1017Ter
NP_001394512.1:p.Glu1017Ter
NP_001394514.1:p.Glu1017Ter
NP_001394516.1:p.Glu1016Ter
NP_001394519.1:p.Glu1016Ter
NP_001394520.1:p.Glu1016Ter
NP_001394522.1:p.Glu1017Ter
NP_001394523.1:p.Glu1017Ter
NP_001394525.1:p.Glu1017Ter
NP_001394526.1:p.Glu1017Ter
NP_001394527.1:p.Glu1017Ter
NP_001394531.1:p.Glu1017Ter
NP_001394532.1:p.Glu1017Ter
NP_001394534.1:p.Glu1017Ter
NP_001394539.1:p.Glu1016Ter
NP_001394540.1:p.Glu1016Ter
NP_001394541.1:p.Glu1016Ter
NP_001394542.1:p.Glu1016Ter
NP_001394543.1:p.Glu1016Ter
NP_001394544.1:p.Glu1016Ter
NP_001394545.1:p.Glu1017Ter
NP_001394546.1:p.Glu1017Ter
NP_001394547.1:p.Glu1017Ter
NP_001394548.1:p.Glu1017Ter
NP_001394549.1:p.Glu1017Ter
NP_001394550.1:p.Glu1017Ter
NP_001394551.1:p.Glu1017Ter
NP_001394552.1:p.Glu1017Ter
NP_001394553.1:p.Glu1017Ter
NP_001394554.1:p.Glu1017Ter
NP_001394555.1:p.Glu1017Ter
NP_001394556.1:p.Glu1016Ter
NP_001394557.1:p.Glu1016Ter
NP_001394558.1:p.Glu1016Ter
NP_001394559.1:p.Glu1016Ter
NP_001394560.1:p.Glu1016Ter
NP_001394561.1:p.Glu1016Ter
NP_001394562.1:p.Glu1016Ter
NP_001394563.1:p.Glu1016Ter
NP_001394564.1:p.Glu1016Ter
NP_001394565.1:p.Glu1016Ter
NP_001394566.1:p.Glu1016Ter
NP_001394567.1:p.Glu1016Ter
NP_001394568.1:p.Glu1017Ter
NP_001394569.1:p.Glu1017Ter
NP_001394570.1:p.Glu1017Ter
NP_001394571.1:p.Glu1017Ter
NP_001394573.1:p.Glu1016Ter
NP_001394574.1:p.Glu1016Ter
NP_001394575.1:p.Glu1014Ter
NP_001394576.1:p.Glu1014Ter
NP_001394577.1:p.Glu976Ter
NP_001394578.1:p.Glu975Ter
NP_001394581.1:p.Glu1017Ter
NP_001394582.1:p.Glu991Ter
NP_001394583.1:p.Glu991Ter
NP_001394584.1:p.Glu991Ter
NP_001394585.1:p.Glu991Ter
NP_001394586.1:p.Glu991Ter
NP_001394587.1:p.Glu991Ter
NP_001394588.1:p.Glu990Ter
NP_001394589.1:p.Glu990Ter
NP_001394590.1:p.Glu990Ter
NP_001394591.1:p.Glu990Ter
NP_001394592.1:p.Glu991Ter
NP_001394593.1:p.Glu976Ter
NP_001394594.1:p.Glu976Ter
NP_001394595.1:p.Glu976Ter
NP_001394596.1:p.Glu976Ter
NP_001394597.1:p.Glu976Ter
NP_001394598.1:p.Glu976Ter
NP_001394599.1:p.Glu975Ter
NP_001394600.1:p.Glu975Ter
NP_001394601.1:p.Glu975Ter
NP_001394602.1:p.Glu975Ter
NP_001394603.1:p.Glu976Ter
NP_001394604.1:p.Glu976Ter
NP_001394605.1:p.Glu976Ter
NP_001394606.1:p.Glu976Ter
NP_001394607.1:p.Glu976Ter
NP_001394608.1:p.Glu976Ter
NP_001394609.1:p.Glu976Ter
NP_001394610.1:p.Glu976Ter
NP_001394611.1:p.Glu976Ter
NP_001394612.1:p.Glu976Ter
NP_001394613.1:p.Glu1017Ter
NP_001394614.1:p.Glu975Ter
NP_001394615.1:p.Glu975Ter
NP_001394616.1:p.Glu975Ter
NP_001394617.1:p.Glu975Ter
NP_001394618.1:p.Glu975Ter
NP_001394619.1:p.Glu975Ter
NP_001394620.1:p.Glu975Ter
NP_001394621.1:p.Glu970Ter
NP_001394623.1:p.Glu970Ter
NP_001394624.1:p.Glu970Ter
NP_001394625.1:p.Glu970Ter
NP_001394626.1:p.Glu970Ter
NP_001394627.1:p.Glu970Ter
NP_001394653.1:p.Glu970Ter
NP_001394654.1:p.Glu970Ter
NP_001394655.1:p.Glu970Ter
NP_001394656.1:p.Glu970Ter
NP_001394657.1:p.Glu970Ter
NP_001394658.1:p.Glu970Ter
NP_001394659.1:p.Glu970Ter
NP_001394660.1:p.Glu970Ter
NP_001394661.1:p.Glu970Ter
NP_001394662.1:p.Glu970Ter
NP_001394663.1:p.Glu970Ter
NP_001394664.1:p.Glu970Ter
NP_001394665.1:p.Glu970Ter
NP_001394666.1:p.Glu970Ter
NP_001394667.1:p.Glu970Ter
NP_001394668.1:p.Glu970Ter
NP_001394669.1:p.Glu969Ter
NP_001394670.1:p.Glu969Ter
NP_001394671.1:p.Glu969Ter
NP_001394672.1:p.Glu969Ter
NP_001394673.1:p.Glu969Ter
NP_001394674.1:p.Glu969Ter
NP_001394675.1:p.Glu969Ter
NP_001394676.1:p.Glu969Ter
NP_001394677.1:p.Glu969Ter
NP_001394678.1:p.Glu969Ter
NP_001394679.1:p.Glu970Ter
NP_001394680.1:p.Glu970Ter
NP_001394681.1:p.Glu970Ter
NP_001394767.1:p.Glu969Ter
NP_001394768.1:p.Glu969Ter
NP_001394770.1:p.Glu969Ter
NP_001394771.1:p.Glu969Ter
NP_001394772.1:p.Glu969Ter
NP_001394773.1:p.Glu969Ter
NP_001394774.1:p.Glu969Ter
NP_001394775.1:p.Glu969Ter
NP_001394776.1:p.Glu969Ter
NP_001394777.1:p.Glu969Ter
NP_001394778.1:p.Glu969Ter
NP_001394779.1:p.Glu970Ter
NP_001394780.1:p.Glu970Ter
NP_001394781.1:p.Glu970Ter
NP_001394782.1:p.Glu946Ter
NP_001394783.1:p.Glu1017Ter
NP_001394787.1:p.Glu1017Ter
NP_001394788.1:p.Glu1017Ter
NP_001394789.1:p.Glu1016Ter
NP_001394790.1:p.Glu1016Ter
NP_001394791.1:p.Glu950Ter
NP_001394792.1:p.Glu976Ter
NP_001394803.1:p.Glu949Ter
NP_001394804.1:p.Glu949Ter
NP_001394808.1:p.Glu947Ter
NP_001394810.1:p.Glu947Ter
NP_001394811.1:p.Glu947Ter
NP_001394813.1:p.Glu947Ter
NP_001394814.1:p.Glu947Ter
NP_001394815.1:p.Glu947Ter
NP_001394816.1:p.Glu947Ter
NP_001394818.1:p.Glu947Ter
NP_001394823.1:p.Glu946Ter
NP_001394824.1:p.Glu946Ter
NP_001394825.1:p.Glu946Ter
NP_001394826.1:p.Glu946Ter
NP_001394827.1:p.Glu946Ter
NP_001394828.1:p.Glu946Ter
NP_001394829.1:p.Glu947Ter
NP_001394831.1:p.Glu947Ter
NP_001394833.1:p.Glu947Ter
NP_001394835.1:p.Glu947Ter
NP_001394836.1:p.Glu947Ter
NP_001394837.1:p.Glu947Ter
NP_001394838.1:p.Glu947Ter
NP_001394839.1:p.Glu947Ter
NP_001394844.1:p.Glu946Ter
NP_001394845.1:p.Glu946Ter
NP_001394846.1:p.Glu946Ter
NP_001394847.1:p.Glu946Ter
NP_001394848.1:p.Glu976Ter
NP_001394849.1:p.Glu929Ter
NP_001394850.1:p.Glu929Ter
NP_001394851.1:p.Glu929Ter
NP_001394852.1:p.Glu929Ter
NP_001394853.1:p.Glu929Ter
NP_001394854.1:p.Glu929Ter
NP_001394855.1:p.Glu929Ter
NP_001394856.1:p.Glu929Ter
NP_001394857.1:p.Glu929Ter
NP_001394858.1:p.Glu929Ter
NP_001394859.1:p.Glu928Ter
NP_001394860.1:p.Glu928Ter
NP_001394861.1:p.Glu928Ter
NP_001394862.1:p.Glu929Ter
NP_001394863.1:p.Glu928Ter
NP_001394864.1:p.Glu929Ter
NP_001394865.1:p.Glu928Ter
NP_001394866.1:p.Glu976Ter
NP_001394867.1:p.Glu976Ter
NP_001394868.1:p.Glu976Ter
NP_001394869.1:p.Glu975Ter
NP_001394870.1:p.Glu975Ter
NP_001394871.1:p.Glu970Ter
NP_001394872.1:p.Glu969Ter
NP_001394873.1:p.Glu970Ter
NP_001394874.1:p.Glu970Ter
NP_001394875.1:p.Glu906Ter
NP_001394876.1:p.Glu906Ter
NP_001394877.1:p.Glu906Ter
NP_001394878.1:p.Glu906Ter
NP_001394879.1:p.Glu906Ter
NP_001394880.1:p.Glu906Ter
NP_001394881.1:p.Glu906Ter
NP_001394882.1:p.Glu906Ter
NP_001394883.1:p.Glu905Ter
NP_001394884.1:p.Glu905Ter
NP_001394885.1:p.Glu905Ter
NP_001394886.1:p.Glu906Ter
NP_001394887.1:p.Glu905Ter
NP_001394888.1:p.Glu890Ter
NP_001394889.1:p.Glu890Ter
NP_001394891.1:p.Glu889Ter
NP_001394892.1:p.Glu890Ter
NP_001394893.1:p.Glu969Ter
NP_001394894.1:p.Glu849Ter
NP_001394895.1:p.Glu721Ter
NP_001394896.1:p.Glu721Ter
NP_009225.1:p.Glu1017Ter
NP_009225.1:p.Glu1017Ter
NP_009228.2:p.Glu970Ter
NP_009231.2:p.Glu1017Ter
LRG_292t1:c.3049G>T
LRG_292:g.125502G>T
LRG_292p1:p.Glu1017Ter
NC_000017.10:g.41244499C>A
NM_007294.3:c.3049G>T
NR_027676.1:n.3185G>T
U14680.1:n.3168G>T

Protein change:

E1014*

Links:

dbSNP: rs80357004

NCBI 1000 Genomes Browser:

rs80357004

Molecular consequence:

NM_001407968.1:c.788-343G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-343G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1459G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1450G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.2836G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.3046G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.3046G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.3046G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.3046G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.3046G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.3046G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.3046G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.3046G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.3046G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.3046G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.3046G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.3046G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.3046G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.3046G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.3046G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.3046G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.3046G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.3046G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.3046G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.3046G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.3046G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.3046G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.3046G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.3040G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.3040G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.2926G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.2923G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.2971G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.2971G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.2971G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.2971G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.2971G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.2971G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.2968G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.2968G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.2968G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.2968G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.2971G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.2926G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.2926G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.2926G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.2926G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.2926G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.2926G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.2923G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.2923G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.2923G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.2923G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.2926G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.2926G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.2926G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.2926G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.2926G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.2926G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.2926G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.2926G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.2926G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.2926G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.2923G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.2923G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.2923G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.2923G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.2923G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.2923G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.2923G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.2905G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.2905G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.2905G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.2905G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.2905G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.2905G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.2905G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.2905G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.2905G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.2905G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.2905G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.2905G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.2905G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.2905G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.2905G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.2905G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.2905G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.2905G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.2905G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.2905G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.2905G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.2836G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.3046G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.3046G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.2848G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.2926G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.2845G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.2845G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.2839G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.2839G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.2839G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.2839G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.2839G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.2839G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.2839G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.2839G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.2836G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.2836G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.2836G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.2836G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.2836G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.2836G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.2839G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.2839G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.2839G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.2839G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.2839G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.2839G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.2839G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.2839G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.2836G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.2836G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.2836G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.2836G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.2926G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.2785G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.2785G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.2785G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.2785G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.2785G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.2785G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.2785G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.2785G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.2785G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.2785G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.2782G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.2782G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.2782G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.2785G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.2782G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.2785G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.2782G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.2926G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.2926G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.2926G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.2923G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.2923G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407942.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407943.1:c.2905G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407944.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407945.1:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.2716G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.2716G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.2716G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.2716G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.2716G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.2716G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.2716G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.2716G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.2713G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.2713G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.2713G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.2716G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.2713G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.2668G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.2668G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.2665G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.2668G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.2905G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.2545G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.2161G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.2161G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.2908G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.3049G>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000144623	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (Dec 23, 2003)	germline	clinical testing
SCV000299879	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Sep 8, 2016)	germline	curation	ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000325546	Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016)	Pathogenic (Oct 2, 2015)	germline	clinical testing	CIMBA_Mutation_Classification_guidelines_May16.pdf, Citation Link,
SCV001519671	Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 28294317, 25741868
SCV002589101	BRCAlab, Lund University	no assertion criteria provided	Pathogenic (Aug 26, 2022)	germline	clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	1	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	4	not provided	not provided	not provided	clinical testing, curation
Western European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next-generation sequencing.

Lang GT, Shi JX, Hu X, Zhang CH, Shan L, Song CG, Zhuang ZG, Cao AY, Ling H, Yu KD, Li S, Sun MH, Zhou XY, Huang W, Shao ZM.

Int J Cancer. 2017 Jul 1;141(1):129-142. doi: 10.1002/ijc.30692. Epub 2017 Apr 25.

PubMed [citation]

PMID:: 28294317

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144623.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Western European	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000299879.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

Variant allele predicted to encode a truncated non-functional protein.

#	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 Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325546.4

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

#	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	4	not provided

From Biomedical Genomics and Oncogenetics Laboratory, Institut Pasteur de Tunis, University Tunis El Manar, SCV001519671.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From BRCAlab, Lund University, SCV002589101.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	1	not provided

Last Updated: Nov 3, 2024

ClinVar

Relating variation to medicine