NM_007294.4(BRCA1):c.3143G>A (p.Gly1048Asp) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Uncertain significance (4 submissions)
Last evaluated:: Sep 5, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000112008.13

Allele description [Variation Report for NM_007294.4(BRCA1):c.3143G>A (p.Gly1048Asp)]

NM_007294.4(BRCA1):c.3143G>A (p.Gly1048Asp)

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.3143G>A (p.Gly1048Asp)

HGVS:

NC_000017.11:g.43092388C>T
NG_005905.2:g.125596G>A
NG_087068.1:g.1370C>T
NM_001407571.1:c.2930G>A
NM_001407581.1:c.3143G>A
NM_001407582.1:c.3143G>A
NM_001407583.1:c.3143G>A
NM_001407585.1:c.3143G>A
NM_001407587.1:c.3140G>A
NM_001407590.1:c.3140G>A
NM_001407591.1:c.3140G>A
NM_001407593.1:c.3143G>A
NM_001407594.1:c.3143G>A
NM_001407596.1:c.3143G>A
NM_001407597.1:c.3143G>A
NM_001407598.1:c.3143G>A
NM_001407602.1:c.3143G>A
NM_001407603.1:c.3143G>A
NM_001407605.1:c.3143G>A
NM_001407610.1:c.3140G>A
NM_001407611.1:c.3140G>A
NM_001407612.1:c.3140G>A
NM_001407613.1:c.3140G>A
NM_001407614.1:c.3140G>A
NM_001407615.1:c.3140G>A
NM_001407616.1:c.3143G>A
NM_001407617.1:c.3143G>A
NM_001407618.1:c.3143G>A
NM_001407619.1:c.3143G>A
NM_001407620.1:c.3143G>A
NM_001407621.1:c.3143G>A
NM_001407622.1:c.3143G>A
NM_001407623.1:c.3143G>A
NM_001407624.1:c.3143G>A
NM_001407625.1:c.3143G>A
NM_001407626.1:c.3143G>A
NM_001407627.1:c.3140G>A
NM_001407628.1:c.3140G>A
NM_001407629.1:c.3140G>A
NM_001407630.1:c.3140G>A
NM_001407631.1:c.3140G>A
NM_001407632.1:c.3140G>A
NM_001407633.1:c.3140G>A
NM_001407634.1:c.3140G>A
NM_001407635.1:c.3140G>A
NM_001407636.1:c.3140G>A
NM_001407637.1:c.3140G>A
NM_001407638.1:c.3140G>A
NM_001407639.1:c.3143G>A
NM_001407640.1:c.3143G>A
NM_001407641.1:c.3143G>A
NM_001407642.1:c.3143G>A
NM_001407644.1:c.3140G>A
NM_001407645.1:c.3140G>A
NM_001407646.1:c.3134G>A
NM_001407647.1:c.3134G>A
NM_001407648.1:c.3020G>A
NM_001407649.1:c.3017G>A
NM_001407652.1:c.3143G>A
NM_001407653.1:c.3065G>A
NM_001407654.1:c.3065G>A
NM_001407655.1:c.3065G>A
NM_001407656.1:c.3065G>A
NM_001407657.1:c.3065G>A
NM_001407658.1:c.3065G>A
NM_001407659.1:c.3062G>A
NM_001407660.1:c.3062G>A
NM_001407661.1:c.3062G>A
NM_001407662.1:c.3062G>A
NM_001407663.1:c.3065G>A
NM_001407664.1:c.3020G>A
NM_001407665.1:c.3020G>A
NM_001407666.1:c.3020G>A
NM_001407667.1:c.3020G>A
NM_001407668.1:c.3020G>A
NM_001407669.1:c.3020G>A
NM_001407670.1:c.3017G>A
NM_001407671.1:c.3017G>A
NM_001407672.1:c.3017G>A
NM_001407673.1:c.3017G>A
NM_001407674.1:c.3020G>A
NM_001407675.1:c.3020G>A
NM_001407676.1:c.3020G>A
NM_001407677.1:c.3020G>A
NM_001407678.1:c.3020G>A
NM_001407679.1:c.3020G>A
NM_001407680.1:c.3020G>A
NM_001407681.1:c.3020G>A
NM_001407682.1:c.3020G>A
NM_001407683.1:c.3020G>A
NM_001407684.1:c.3143G>A
NM_001407685.1:c.3017G>A
NM_001407686.1:c.3017G>A
NM_001407687.1:c.3017G>A
NM_001407688.1:c.3017G>A
NM_001407689.1:c.3017G>A
NM_001407690.1:c.3017G>A
NM_001407691.1:c.3017G>A
NM_001407692.1:c.3002G>A
NM_001407694.1:c.3002G>A
NM_001407695.1:c.3002G>A
NM_001407696.1:c.3002G>A
NM_001407697.1:c.3002G>A
NM_001407698.1:c.3002G>A
NM_001407724.1:c.3002G>A
NM_001407725.1:c.3002G>A
NM_001407726.1:c.3002G>A
NM_001407727.1:c.3002G>A
NM_001407728.1:c.3002G>A
NM_001407729.1:c.3002G>A
NM_001407730.1:c.3002G>A
NM_001407731.1:c.3002G>A
NM_001407732.1:c.3002G>A
NM_001407733.1:c.3002G>A
NM_001407734.1:c.3002G>A
NM_001407735.1:c.3002G>A
NM_001407736.1:c.3002G>A
NM_001407737.1:c.3002G>A
NM_001407738.1:c.3002G>A
NM_001407739.1:c.3002G>A
NM_001407740.1:c.2999G>A
NM_001407741.1:c.2999G>A
NM_001407742.1:c.2999G>A
NM_001407743.1:c.2999G>A
NM_001407744.1:c.2999G>A
NM_001407745.1:c.2999G>A
NM_001407746.1:c.2999G>A
NM_001407747.1:c.2999G>A
NM_001407748.1:c.2999G>A
NM_001407749.1:c.2999G>A
NM_001407750.1:c.3002G>A
NM_001407751.1:c.3002G>A
NM_001407752.1:c.3002G>A
NM_001407838.1:c.2999G>A
NM_001407839.1:c.2999G>A
NM_001407841.1:c.2999G>A
NM_001407842.1:c.2999G>A
NM_001407843.1:c.2999G>A
NM_001407844.1:c.2999G>A
NM_001407845.1:c.2999G>A
NM_001407846.1:c.2999G>A
NM_001407847.1:c.2999G>A
NM_001407848.1:c.2999G>A
NM_001407849.1:c.2999G>A
NM_001407850.1:c.3002G>A
NM_001407851.1:c.3002G>A
NM_001407852.1:c.3002G>A
NM_001407853.1:c.2930G>A
NM_001407854.1:c.3143G>A
NM_001407858.1:c.3143G>A
NM_001407859.1:c.3143G>A
NM_001407860.1:c.3140G>A
NM_001407861.1:c.3140G>A
NM_001407862.1:c.2942G>A
NM_001407863.1:c.3020G>A
NM_001407874.1:c.2939G>A
NM_001407875.1:c.2939G>A
NM_001407879.1:c.2933G>A
NM_001407881.1:c.2933G>A
NM_001407882.1:c.2933G>A
NM_001407884.1:c.2933G>A
NM_001407885.1:c.2933G>A
NM_001407886.1:c.2933G>A
NM_001407887.1:c.2933G>A
NM_001407889.1:c.2933G>A
NM_001407894.1:c.2930G>A
NM_001407895.1:c.2930G>A
NM_001407896.1:c.2930G>A
NM_001407897.1:c.2930G>A
NM_001407898.1:c.2930G>A
NM_001407899.1:c.2930G>A
NM_001407900.1:c.2933G>A
NM_001407902.1:c.2933G>A
NM_001407904.1:c.2933G>A
NM_001407906.1:c.2933G>A
NM_001407907.1:c.2933G>A
NM_001407908.1:c.2933G>A
NM_001407909.1:c.2933G>A
NM_001407910.1:c.2933G>A
NM_001407915.1:c.2930G>A
NM_001407916.1:c.2930G>A
NM_001407917.1:c.2930G>A
NM_001407918.1:c.2930G>A
NM_001407919.1:c.3020G>A
NM_001407920.1:c.2879G>A
NM_001407921.1:c.2879G>A
NM_001407922.1:c.2879G>A
NM_001407923.1:c.2879G>A
NM_001407924.1:c.2879G>A
NM_001407925.1:c.2879G>A
NM_001407926.1:c.2879G>A
NM_001407927.1:c.2879G>A
NM_001407928.1:c.2879G>A
NM_001407929.1:c.2879G>A
NM_001407930.1:c.2876G>A
NM_001407931.1:c.2876G>A
NM_001407932.1:c.2876G>A
NM_001407933.1:c.2879G>A
NM_001407934.1:c.2876G>A
NM_001407935.1:c.2879G>A
NM_001407936.1:c.2876G>A
NM_001407937.1:c.3020G>A
NM_001407938.1:c.3020G>A
NM_001407939.1:c.3020G>A
NM_001407940.1:c.3017G>A
NM_001407941.1:c.3017G>A
NM_001407942.1:c.3002G>A
NM_001407943.1:c.2999G>A
NM_001407944.1:c.3002G>A
NM_001407945.1:c.3002G>A
NM_001407946.1:c.2810G>A
NM_001407947.1:c.2810G>A
NM_001407948.1:c.2810G>A
NM_001407949.1:c.2810G>A
NM_001407950.1:c.2810G>A
NM_001407951.1:c.2810G>A
NM_001407952.1:c.2810G>A
NM_001407953.1:c.2810G>A
NM_001407954.1:c.2807G>A
NM_001407955.1:c.2807G>A
NM_001407956.1:c.2807G>A
NM_001407957.1:c.2810G>A
NM_001407958.1:c.2807G>A
NM_001407959.1:c.2762G>A
NM_001407960.1:c.2762G>A
NM_001407962.1:c.2759G>A
NM_001407963.1:c.2762G>A
NM_001407964.1:c.2999G>A
NM_001407965.1:c.2639G>A
NM_001407966.1:c.2255G>A
NM_001407967.1:c.2255G>A
NM_001407968.1:c.788-249G>A
NM_001407969.1:c.788-249G>A
NM_001407970.1:c.788-1356G>A
NM_001407971.1:c.788-1356G>A
NM_001407972.1:c.785-1356G>A
NM_001407973.1:c.788-1356G>A
NM_001407974.1:c.788-1356G>A
NM_001407975.1:c.788-1356G>A
NM_001407976.1:c.788-1356G>A
NM_001407977.1:c.788-1356G>A
NM_001407978.1:c.788-1356G>A
NM_001407979.1:c.788-1356G>A
NM_001407980.1:c.788-1356G>A
NM_001407981.1:c.788-1356G>A
NM_001407982.1:c.788-1356G>A
NM_001407983.1:c.788-1356G>A
NM_001407984.1:c.785-1356G>A
NM_001407985.1:c.785-1356G>A
NM_001407986.1:c.785-1356G>A
NM_001407990.1:c.788-1356G>A
NM_001407991.1:c.785-1356G>A
NM_001407992.1:c.785-1356G>A
NM_001407993.1:c.788-1356G>A
NM_001408392.1:c.785-1356G>A
NM_001408396.1:c.785-1356G>A
NM_001408397.1:c.785-1356G>A
NM_001408398.1:c.785-1356G>A
NM_001408399.1:c.785-1356G>A
NM_001408400.1:c.785-1356G>A
NM_001408401.1:c.785-1356G>A
NM_001408402.1:c.785-1356G>A
NM_001408403.1:c.788-1356G>A
NM_001408404.1:c.788-1356G>A
NM_001408406.1:c.791-1365G>A
NM_001408407.1:c.785-1356G>A
NM_001408408.1:c.779-1356G>A
NM_001408409.1:c.710-1356G>A
NM_001408410.1:c.647-1356G>A
NM_001408411.1:c.710-1356G>A
NM_001408412.1:c.710-1356G>A
NM_001408413.1:c.707-1356G>A
NM_001408414.1:c.710-1356G>A
NM_001408415.1:c.710-1356G>A
NM_001408416.1:c.707-1356G>A
NM_001408418.1:c.671-1356G>A
NM_001408419.1:c.671-1356G>A
NM_001408420.1:c.671-1356G>A
NM_001408421.1:c.668-1356G>A
NM_001408422.1:c.671-1356G>A
NM_001408423.1:c.671-1356G>A
NM_001408424.1:c.668-1356G>A
NM_001408425.1:c.665-1356G>A
NM_001408426.1:c.665-1356G>A
NM_001408427.1:c.665-1356G>A
NM_001408428.1:c.665-1356G>A
NM_001408429.1:c.665-1356G>A
NM_001408430.1:c.665-1356G>A
NM_001408431.1:c.668-1356G>A
NM_001408432.1:c.662-1356G>A
NM_001408433.1:c.662-1356G>A
NM_001408434.1:c.662-1356G>A
NM_001408435.1:c.662-1356G>A
NM_001408436.1:c.665-1356G>A
NM_001408437.1:c.665-1356G>A
NM_001408438.1:c.665-1356G>A
NM_001408439.1:c.665-1356G>A
NM_001408440.1:c.665-1356G>A
NM_001408441.1:c.665-1356G>A
NM_001408442.1:c.665-1356G>A
NM_001408443.1:c.665-1356G>A
NM_001408444.1:c.665-1356G>A
NM_001408445.1:c.662-1356G>A
NM_001408446.1:c.662-1356G>A
NM_001408447.1:c.662-1356G>A
NM_001408448.1:c.662-1356G>A
NM_001408450.1:c.662-1356G>A
NM_001408451.1:c.653-1356G>A
NM_001408452.1:c.647-1356G>A
NM_001408453.1:c.647-1356G>A
NM_001408454.1:c.647-1356G>A
NM_001408455.1:c.647-1356G>A
NM_001408456.1:c.647-1356G>A
NM_001408457.1:c.647-1356G>A
NM_001408458.1:c.647-1356G>A
NM_001408459.1:c.647-1356G>A
NM_001408460.1:c.647-1356G>A
NM_001408461.1:c.647-1356G>A
NM_001408462.1:c.644-1356G>A
NM_001408463.1:c.644-1356G>A
NM_001408464.1:c.644-1356G>A
NM_001408465.1:c.644-1356G>A
NM_001408466.1:c.647-1356G>A
NM_001408467.1:c.647-1356G>A
NM_001408468.1:c.644-1356G>A
NM_001408469.1:c.647-1356G>A
NM_001408470.1:c.644-1356G>A
NM_001408472.1:c.788-1356G>A
NM_001408473.1:c.785-1356G>A
NM_001408474.1:c.587-1356G>A
NM_001408475.1:c.584-1356G>A
NM_001408476.1:c.587-1356G>A
NM_001408478.1:c.578-1356G>A
NM_001408479.1:c.578-1356G>A
NM_001408480.1:c.578-1356G>A
NM_001408481.1:c.578-1356G>A
NM_001408482.1:c.578-1356G>A
NM_001408483.1:c.578-1356G>A
NM_001408484.1:c.578-1356G>A
NM_001408485.1:c.578-1356G>A
NM_001408489.1:c.578-1356G>A
NM_001408490.1:c.575-1356G>A
NM_001408491.1:c.575-1356G>A
NM_001408492.1:c.578-1356G>A
NM_001408493.1:c.575-1356G>A
NM_001408494.1:c.548-1356G>A
NM_001408495.1:c.545-1356G>A
NM_001408496.1:c.524-1356G>A
NM_001408497.1:c.524-1356G>A
NM_001408498.1:c.524-1356G>A
NM_001408499.1:c.524-1356G>A
NM_001408500.1:c.524-1356G>A
NM_001408501.1:c.524-1356G>A
NM_001408502.1:c.455-1356G>A
NM_001408503.1:c.521-1356G>A
NM_001408504.1:c.521-1356G>A
NM_001408505.1:c.521-1356G>A
NM_001408506.1:c.461-1356G>A
NM_001408507.1:c.461-1356G>A
NM_001408508.1:c.452-1356G>A
NM_001408509.1:c.452-1356G>A
NM_001408510.1:c.407-1356G>A
NM_001408511.1:c.404-1356G>A
NM_001408512.1:c.284-1356G>A
NM_001408513.1:c.578-1356G>A
NM_001408514.1:c.578-1356G>A
NM_007294.4:c.3143G>AMANE SELECT
NM_007297.4:c.3002G>A
NM_007298.4:c.788-1356G>A
NM_007299.4:c.788-1356G>A
NM_007300.4:c.3143G>A
NP_001394500.1:p.Gly977Asp
NP_001394510.1:p.Gly1048Asp
NP_001394511.1:p.Gly1048Asp
NP_001394512.1:p.Gly1048Asp
NP_001394514.1:p.Gly1048Asp
NP_001394516.1:p.Gly1047Asp
NP_001394519.1:p.Gly1047Asp
NP_001394520.1:p.Gly1047Asp
NP_001394522.1:p.Gly1048Asp
NP_001394523.1:p.Gly1048Asp
NP_001394525.1:p.Gly1048Asp
NP_001394526.1:p.Gly1048Asp
NP_001394527.1:p.Gly1048Asp
NP_001394531.1:p.Gly1048Asp
NP_001394532.1:p.Gly1048Asp
NP_001394534.1:p.Gly1048Asp
NP_001394539.1:p.Gly1047Asp
NP_001394540.1:p.Gly1047Asp
NP_001394541.1:p.Gly1047Asp
NP_001394542.1:p.Gly1047Asp
NP_001394543.1:p.Gly1047Asp
NP_001394544.1:p.Gly1047Asp
NP_001394545.1:p.Gly1048Asp
NP_001394546.1:p.Gly1048Asp
NP_001394547.1:p.Gly1048Asp
NP_001394548.1:p.Gly1048Asp
NP_001394549.1:p.Gly1048Asp
NP_001394550.1:p.Gly1048Asp
NP_001394551.1:p.Gly1048Asp
NP_001394552.1:p.Gly1048Asp
NP_001394553.1:p.Gly1048Asp
NP_001394554.1:p.Gly1048Asp
NP_001394555.1:p.Gly1048Asp
NP_001394556.1:p.Gly1047Asp
NP_001394557.1:p.Gly1047Asp
NP_001394558.1:p.Gly1047Asp
NP_001394559.1:p.Gly1047Asp
NP_001394560.1:p.Gly1047Asp
NP_001394561.1:p.Gly1047Asp
NP_001394562.1:p.Gly1047Asp
NP_001394563.1:p.Gly1047Asp
NP_001394564.1:p.Gly1047Asp
NP_001394565.1:p.Gly1047Asp
NP_001394566.1:p.Gly1047Asp
NP_001394567.1:p.Gly1047Asp
NP_001394568.1:p.Gly1048Asp
NP_001394569.1:p.Gly1048Asp
NP_001394570.1:p.Gly1048Asp
NP_001394571.1:p.Gly1048Asp
NP_001394573.1:p.Gly1047Asp
NP_001394574.1:p.Gly1047Asp
NP_001394575.1:p.Gly1045Asp
NP_001394576.1:p.Gly1045Asp
NP_001394577.1:p.Gly1007Asp
NP_001394578.1:p.Gly1006Asp
NP_001394581.1:p.Gly1048Asp
NP_001394582.1:p.Gly1022Asp
NP_001394583.1:p.Gly1022Asp
NP_001394584.1:p.Gly1022Asp
NP_001394585.1:p.Gly1022Asp
NP_001394586.1:p.Gly1022Asp
NP_001394587.1:p.Gly1022Asp
NP_001394588.1:p.Gly1021Asp
NP_001394589.1:p.Gly1021Asp
NP_001394590.1:p.Gly1021Asp
NP_001394591.1:p.Gly1021Asp
NP_001394592.1:p.Gly1022Asp
NP_001394593.1:p.Gly1007Asp
NP_001394594.1:p.Gly1007Asp
NP_001394595.1:p.Gly1007Asp
NP_001394596.1:p.Gly1007Asp
NP_001394597.1:p.Gly1007Asp
NP_001394598.1:p.Gly1007Asp
NP_001394599.1:p.Gly1006Asp
NP_001394600.1:p.Gly1006Asp
NP_001394601.1:p.Gly1006Asp
NP_001394602.1:p.Gly1006Asp
NP_001394603.1:p.Gly1007Asp
NP_001394604.1:p.Gly1007Asp
NP_001394605.1:p.Gly1007Asp
NP_001394606.1:p.Gly1007Asp
NP_001394607.1:p.Gly1007Asp
NP_001394608.1:p.Gly1007Asp
NP_001394609.1:p.Gly1007Asp
NP_001394610.1:p.Gly1007Asp
NP_001394611.1:p.Gly1007Asp
NP_001394612.1:p.Gly1007Asp
NP_001394613.1:p.Gly1048Asp
NP_001394614.1:p.Gly1006Asp
NP_001394615.1:p.Gly1006Asp
NP_001394616.1:p.Gly1006Asp
NP_001394617.1:p.Gly1006Asp
NP_001394618.1:p.Gly1006Asp
NP_001394619.1:p.Gly1006Asp
NP_001394620.1:p.Gly1006Asp
NP_001394621.1:p.Gly1001Asp
NP_001394623.1:p.Gly1001Asp
NP_001394624.1:p.Gly1001Asp
NP_001394625.1:p.Gly1001Asp
NP_001394626.1:p.Gly1001Asp
NP_001394627.1:p.Gly1001Asp
NP_001394653.1:p.Gly1001Asp
NP_001394654.1:p.Gly1001Asp
NP_001394655.1:p.Gly1001Asp
NP_001394656.1:p.Gly1001Asp
NP_001394657.1:p.Gly1001Asp
NP_001394658.1:p.Gly1001Asp
NP_001394659.1:p.Gly1001Asp
NP_001394660.1:p.Gly1001Asp
NP_001394661.1:p.Gly1001Asp
NP_001394662.1:p.Gly1001Asp
NP_001394663.1:p.Gly1001Asp
NP_001394664.1:p.Gly1001Asp
NP_001394665.1:p.Gly1001Asp
NP_001394666.1:p.Gly1001Asp
NP_001394667.1:p.Gly1001Asp
NP_001394668.1:p.Gly1001Asp
NP_001394669.1:p.Gly1000Asp
NP_001394670.1:p.Gly1000Asp
NP_001394671.1:p.Gly1000Asp
NP_001394672.1:p.Gly1000Asp
NP_001394673.1:p.Gly1000Asp
NP_001394674.1:p.Gly1000Asp
NP_001394675.1:p.Gly1000Asp
NP_001394676.1:p.Gly1000Asp
NP_001394677.1:p.Gly1000Asp
NP_001394678.1:p.Gly1000Asp
NP_001394679.1:p.Gly1001Asp
NP_001394680.1:p.Gly1001Asp
NP_001394681.1:p.Gly1001Asp
NP_001394767.1:p.Gly1000Asp
NP_001394768.1:p.Gly1000Asp
NP_001394770.1:p.Gly1000Asp
NP_001394771.1:p.Gly1000Asp
NP_001394772.1:p.Gly1000Asp
NP_001394773.1:p.Gly1000Asp
NP_001394774.1:p.Gly1000Asp
NP_001394775.1:p.Gly1000Asp
NP_001394776.1:p.Gly1000Asp
NP_001394777.1:p.Gly1000Asp
NP_001394778.1:p.Gly1000Asp
NP_001394779.1:p.Gly1001Asp
NP_001394780.1:p.Gly1001Asp
NP_001394781.1:p.Gly1001Asp
NP_001394782.1:p.Gly977Asp
NP_001394783.1:p.Gly1048Asp
NP_001394787.1:p.Gly1048Asp
NP_001394788.1:p.Gly1048Asp
NP_001394789.1:p.Gly1047Asp
NP_001394790.1:p.Gly1047Asp
NP_001394791.1:p.Gly981Asp
NP_001394792.1:p.Gly1007Asp
NP_001394803.1:p.Gly980Asp
NP_001394804.1:p.Gly980Asp
NP_001394808.1:p.Gly978Asp
NP_001394810.1:p.Gly978Asp
NP_001394811.1:p.Gly978Asp
NP_001394813.1:p.Gly978Asp
NP_001394814.1:p.Gly978Asp
NP_001394815.1:p.Gly978Asp
NP_001394816.1:p.Gly978Asp
NP_001394818.1:p.Gly978Asp
NP_001394823.1:p.Gly977Asp
NP_001394824.1:p.Gly977Asp
NP_001394825.1:p.Gly977Asp
NP_001394826.1:p.Gly977Asp
NP_001394827.1:p.Gly977Asp
NP_001394828.1:p.Gly977Asp
NP_001394829.1:p.Gly978Asp
NP_001394831.1:p.Gly978Asp
NP_001394833.1:p.Gly978Asp
NP_001394835.1:p.Gly978Asp
NP_001394836.1:p.Gly978Asp
NP_001394837.1:p.Gly978Asp
NP_001394838.1:p.Gly978Asp
NP_001394839.1:p.Gly978Asp
NP_001394844.1:p.Gly977Asp
NP_001394845.1:p.Gly977Asp
NP_001394846.1:p.Gly977Asp
NP_001394847.1:p.Gly977Asp
NP_001394848.1:p.Gly1007Asp
NP_001394849.1:p.Gly960Asp
NP_001394850.1:p.Gly960Asp
NP_001394851.1:p.Gly960Asp
NP_001394852.1:p.Gly960Asp
NP_001394853.1:p.Gly960Asp
NP_001394854.1:p.Gly960Asp
NP_001394855.1:p.Gly960Asp
NP_001394856.1:p.Gly960Asp
NP_001394857.1:p.Gly960Asp
NP_001394858.1:p.Gly960Asp
NP_001394859.1:p.Gly959Asp
NP_001394860.1:p.Gly959Asp
NP_001394861.1:p.Gly959Asp
NP_001394862.1:p.Gly960Asp
NP_001394863.1:p.Gly959Asp
NP_001394864.1:p.Gly960Asp
NP_001394865.1:p.Gly959Asp
NP_001394866.1:p.Gly1007Asp
NP_001394867.1:p.Gly1007Asp
NP_001394868.1:p.Gly1007Asp
NP_001394869.1:p.Gly1006Asp
NP_001394870.1:p.Gly1006Asp
NP_001394871.1:p.Gly1001Asp
NP_001394872.1:p.Gly1000Asp
NP_001394873.1:p.Gly1001Asp
NP_001394874.1:p.Gly1001Asp
NP_001394875.1:p.Gly937Asp
NP_001394876.1:p.Gly937Asp
NP_001394877.1:p.Gly937Asp
NP_001394878.1:p.Gly937Asp
NP_001394879.1:p.Gly937Asp
NP_001394880.1:p.Gly937Asp
NP_001394881.1:p.Gly937Asp
NP_001394882.1:p.Gly937Asp
NP_001394883.1:p.Gly936Asp
NP_001394884.1:p.Gly936Asp
NP_001394885.1:p.Gly936Asp
NP_001394886.1:p.Gly937Asp
NP_001394887.1:p.Gly936Asp
NP_001394888.1:p.Gly921Asp
NP_001394889.1:p.Gly921Asp
NP_001394891.1:p.Gly920Asp
NP_001394892.1:p.Gly921Asp
NP_001394893.1:p.Gly1000Asp
NP_001394894.1:p.Gly880Asp
NP_001394895.1:p.Gly752Asp
NP_001394896.1:p.Gly752Asp
NP_009225.1:p.Gly1048Asp
NP_009225.1:p.Gly1048Asp
NP_009228.2:p.Gly1001Asp
NP_009231.2:p.Gly1048Asp
LRG_292t1:c.3143G>A
LRG_292:g.125596G>A
LRG_292p1:p.Gly1048Asp
NC_000017.10:g.41244405C>T
NM_007294.3:c.3143G>A
NR_027676.1:n.3279G>A
U14680.1:n.3262G>A
p.G1048D

Protein change:

G1000D

Links:

dbSNP: rs80356899

NCBI 1000 Genomes Browser:

rs80356899

Molecular consequence:

NM_001407968.1:c.788-249G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-249G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1365G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1356G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.2930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.3140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.3140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.3140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.3140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.3140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.3140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.3140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.3140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.3140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.3140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.3140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.3140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.3140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.3140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.3140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.3140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.3140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.3140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.3140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.3140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.3140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.3140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.3140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.3134G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.3134G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.3020G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.3017G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.3065G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.3065G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.3065G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.3065G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.3065G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.3065G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.3062G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.3062G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.3062G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.3062G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.3065G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.3020G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.3020G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.3020G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.3020G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.3020G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.3020G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.3017G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.3017G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.3017G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.3017G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.3020G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.3020G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.3020G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.3020G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.3020G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.3020G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.3020G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.3020G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.3020G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.3020G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.3017G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.3017G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.3017G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.3017G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.3017G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.3017G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.3017G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.2999G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.2999G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.2999G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.2999G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.2999G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.2999G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.2999G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.2999G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.2999G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.2999G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.2999G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.2999G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.2999G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.2999G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.2999G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.2999G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.2999G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.2999G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.2999G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.2999G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.2999G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.2930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.3140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.3140G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.2942G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.3020G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.2939G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.2939G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.2933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.2933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.2933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.2933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.2933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.2933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.2933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.2933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.2930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.2930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.2930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.2930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.2930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.2930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.2933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.2933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.2933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.2933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.2933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.2933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.2933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.2933G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.2930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.2930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.2930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.2930G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.3020G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.2879G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.2879G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.2879G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.2879G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.2879G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.2879G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.2879G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.2879G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.2879G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.2879G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.2876G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.2876G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.2876G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.2879G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.2876G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.2879G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.2876G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.3020G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.3020G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.3020G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.3017G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.3017G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.2999G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.2810G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.2810G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.2810G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.2810G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.2810G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.2810G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.2810G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.2810G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.2807G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.2807G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.2807G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.2810G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.2807G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.2762G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.2762G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.2759G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.2762G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.2999G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.2639G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.2255G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.2255G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.3002G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.3143G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

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

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SRP056212 (35)
SRA
LOC120392291 [Mauremys reevesii]
LOC120392291 [Mauremys reevesii]
Gene ID:120392291

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000144648	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Uncertain significance (May 29, 2002)	germline	clinical testing
SCV000785538	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Sep 6, 2017)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 9150149, 16267036, 15385441, 18273839 Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf, Citation Link,
SCV001140557	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Uncertain significance (May 28, 2019)	unknown	clinical testing	Citation Link,
SCV004815599	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain Significance (Sep 5, 2023)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 30287823, 31131967, 31214711, 32980694, 25741868

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	5	not provided	not provided	108544	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
African American	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Native American	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic. Institut Curie Breast Cancer Group.

Stoppa-Lyonnet D, Laurent-Puig P, Essioux L, Pagès S, Ithier G, Ligot L, Fourquet A, Salmon RJ, Clough KB, Pouillart P, Bonaïti-Pellié C, Thomas G.

Am J Hum Genet. 1997 May;60(5):1021-30.

PubMed [citation]

PMID:: 9150149
PMCID:: PMC1712430

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, Ward BE, Pruss D, Scholl T.

Cancer Res. 2005 Nov 1;65(21):10096-103.

PubMed [citation]

PMID:: 16267036

See all PubMed Citations (9)

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144648.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided
2	African American	1	not provided	not provided	clinical testing	not provided
3	Native American	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		2	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Counsyl, SCV000785538.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

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

From Mendelics, SCV001140557.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From All of Us Research Program, National Institutes of Health, SCV004815599.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	5	not provided	not provided	clinical testing	PubMed (5)

Description

This missense variant replaces glycine with aspartic acid at codon 1048 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in breast, pancreatic and prostate cancer case-control studies in 1 unaffected individual per study and absent in cancer cases (PMID: 30287823, 31214711, 32980694) and in a multifactorial analysis with co-occurrence and family history likelihood ratios for pathogenicity of 1.1391 and 0.4042, respectively (PMID: 31131967). This variant has been identified in 9/282390 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	108544	not provided	not provided		5	not provided	not provided	not provided

Last Updated: Jun 29, 2024

ClinVar

Relating variation to medicine