NM_007294.4(BRCA1):c.3286C>T (p.Gln1096Ter) 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:: RCV000112045.16

Allele description [Variation Report for NM_007294.4(BRCA1):c.3286C>T (p.Gln1096Ter)]

NM_007294.4(BRCA1):c.3286C>T (p.Gln1096Ter)

Genes:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.3286C>T (p.Gln1096Ter)

HGVS:

NC_000017.11:g.43092245G>A
NG_005905.2:g.125739C>T
NG_087068.1:g.1227G>A
NM_001407571.1:c.3073C>T
NM_001407581.1:c.3286C>T
NM_001407582.1:c.3286C>T
NM_001407583.1:c.3286C>T
NM_001407585.1:c.3286C>T
NM_001407587.1:c.3283C>T
NM_001407590.1:c.3283C>T
NM_001407591.1:c.3283C>T
NM_001407593.1:c.3286C>T
NM_001407594.1:c.3286C>T
NM_001407596.1:c.3286C>T
NM_001407597.1:c.3286C>T
NM_001407598.1:c.3286C>T
NM_001407602.1:c.3286C>T
NM_001407603.1:c.3286C>T
NM_001407605.1:c.3286C>T
NM_001407610.1:c.3283C>T
NM_001407611.1:c.3283C>T
NM_001407612.1:c.3283C>T
NM_001407613.1:c.3283C>T
NM_001407614.1:c.3283C>T
NM_001407615.1:c.3283C>T
NM_001407616.1:c.3286C>T
NM_001407617.1:c.3286C>T
NM_001407618.1:c.3286C>T
NM_001407619.1:c.3286C>T
NM_001407620.1:c.3286C>T
NM_001407621.1:c.3286C>T
NM_001407622.1:c.3286C>T
NM_001407623.1:c.3286C>T
NM_001407624.1:c.3286C>T
NM_001407625.1:c.3286C>T
NM_001407626.1:c.3286C>T
NM_001407627.1:c.3283C>T
NM_001407628.1:c.3283C>T
NM_001407629.1:c.3283C>T
NM_001407630.1:c.3283C>T
NM_001407631.1:c.3283C>T
NM_001407632.1:c.3283C>T
NM_001407633.1:c.3283C>T
NM_001407634.1:c.3283C>T
NM_001407635.1:c.3283C>T
NM_001407636.1:c.3283C>T
NM_001407637.1:c.3283C>T
NM_001407638.1:c.3283C>T
NM_001407639.1:c.3286C>T
NM_001407640.1:c.3286C>T
NM_001407641.1:c.3286C>T
NM_001407642.1:c.3286C>T
NM_001407644.1:c.3283C>T
NM_001407645.1:c.3283C>T
NM_001407646.1:c.3277C>T
NM_001407647.1:c.3277C>T
NM_001407648.1:c.3163C>T
NM_001407649.1:c.3160C>T
NM_001407652.1:c.3286C>T
NM_001407653.1:c.3208C>T
NM_001407654.1:c.3208C>T
NM_001407655.1:c.3208C>T
NM_001407656.1:c.3208C>T
NM_001407657.1:c.3208C>T
NM_001407658.1:c.3208C>T
NM_001407659.1:c.3205C>T
NM_001407660.1:c.3205C>T
NM_001407661.1:c.3205C>T
NM_001407662.1:c.3205C>T
NM_001407663.1:c.3208C>T
NM_001407664.1:c.3163C>T
NM_001407665.1:c.3163C>T
NM_001407666.1:c.3163C>T
NM_001407667.1:c.3163C>T
NM_001407668.1:c.3163C>T
NM_001407669.1:c.3163C>T
NM_001407670.1:c.3160C>T
NM_001407671.1:c.3160C>T
NM_001407672.1:c.3160C>T
NM_001407673.1:c.3160C>T
NM_001407674.1:c.3163C>T
NM_001407675.1:c.3163C>T
NM_001407676.1:c.3163C>T
NM_001407677.1:c.3163C>T
NM_001407678.1:c.3163C>T
NM_001407679.1:c.3163C>T
NM_001407680.1:c.3163C>T
NM_001407681.1:c.3163C>T
NM_001407682.1:c.3163C>T
NM_001407683.1:c.3163C>T
NM_001407684.1:c.3286C>T
NM_001407685.1:c.3160C>T
NM_001407686.1:c.3160C>T
NM_001407687.1:c.3160C>T
NM_001407688.1:c.3160C>T
NM_001407689.1:c.3160C>T
NM_001407690.1:c.3160C>T
NM_001407691.1:c.3160C>T
NM_001407692.1:c.3145C>T
NM_001407694.1:c.3145C>T
NM_001407695.1:c.3145C>T
NM_001407696.1:c.3145C>T
NM_001407697.1:c.3145C>T
NM_001407698.1:c.3145C>T
NM_001407724.1:c.3145C>T
NM_001407725.1:c.3145C>T
NM_001407726.1:c.3145C>T
NM_001407727.1:c.3145C>T
NM_001407728.1:c.3145C>T
NM_001407729.1:c.3145C>T
NM_001407730.1:c.3145C>T
NM_001407731.1:c.3145C>T
NM_001407732.1:c.3145C>T
NM_001407733.1:c.3145C>T
NM_001407734.1:c.3145C>T
NM_001407735.1:c.3145C>T
NM_001407736.1:c.3145C>T
NM_001407737.1:c.3145C>T
NM_001407738.1:c.3145C>T
NM_001407739.1:c.3145C>T
NM_001407740.1:c.3142C>T
NM_001407741.1:c.3142C>T
NM_001407742.1:c.3142C>T
NM_001407743.1:c.3142C>T
NM_001407744.1:c.3142C>T
NM_001407745.1:c.3142C>T
NM_001407746.1:c.3142C>T
NM_001407747.1:c.3142C>T
NM_001407748.1:c.3142C>T
NM_001407749.1:c.3142C>T
NM_001407750.1:c.3145C>T
NM_001407751.1:c.3145C>T
NM_001407752.1:c.3145C>T
NM_001407838.1:c.3142C>T
NM_001407839.1:c.3142C>T
NM_001407841.1:c.3142C>T
NM_001407842.1:c.3142C>T
NM_001407843.1:c.3142C>T
NM_001407844.1:c.3142C>T
NM_001407845.1:c.3142C>T
NM_001407846.1:c.3142C>T
NM_001407847.1:c.3142C>T
NM_001407848.1:c.3142C>T
NM_001407849.1:c.3142C>T
NM_001407850.1:c.3145C>T
NM_001407851.1:c.3145C>T
NM_001407852.1:c.3145C>T
NM_001407853.1:c.3073C>T
NM_001407854.1:c.3286C>T
NM_001407858.1:c.3286C>T
NM_001407859.1:c.3286C>T
NM_001407860.1:c.3283C>T
NM_001407861.1:c.3283C>T
NM_001407862.1:c.3085C>T
NM_001407863.1:c.3163C>T
NM_001407874.1:c.3082C>T
NM_001407875.1:c.3082C>T
NM_001407879.1:c.3076C>T
NM_001407881.1:c.3076C>T
NM_001407882.1:c.3076C>T
NM_001407884.1:c.3076C>T
NM_001407885.1:c.3076C>T
NM_001407886.1:c.3076C>T
NM_001407887.1:c.3076C>T
NM_001407889.1:c.3076C>T
NM_001407894.1:c.3073C>T
NM_001407895.1:c.3073C>T
NM_001407896.1:c.3073C>T
NM_001407897.1:c.3073C>T
NM_001407898.1:c.3073C>T
NM_001407899.1:c.3073C>T
NM_001407900.1:c.3076C>T
NM_001407902.1:c.3076C>T
NM_001407904.1:c.3076C>T
NM_001407906.1:c.3076C>T
NM_001407907.1:c.3076C>T
NM_001407908.1:c.3076C>T
NM_001407909.1:c.3076C>T
NM_001407910.1:c.3076C>T
NM_001407915.1:c.3073C>T
NM_001407916.1:c.3073C>T
NM_001407917.1:c.3073C>T
NM_001407918.1:c.3073C>T
NM_001407919.1:c.3163C>T
NM_001407920.1:c.3022C>T
NM_001407921.1:c.3022C>T
NM_001407922.1:c.3022C>T
NM_001407923.1:c.3022C>T
NM_001407924.1:c.3022C>T
NM_001407925.1:c.3022C>T
NM_001407926.1:c.3022C>T
NM_001407927.1:c.3022C>T
NM_001407928.1:c.3022C>T
NM_001407929.1:c.3022C>T
NM_001407930.1:c.3019C>T
NM_001407931.1:c.3019C>T
NM_001407932.1:c.3019C>T
NM_001407933.1:c.3022C>T
NM_001407934.1:c.3019C>T
NM_001407935.1:c.3022C>T
NM_001407936.1:c.3019C>T
NM_001407937.1:c.3163C>T
NM_001407938.1:c.3163C>T
NM_001407939.1:c.3163C>T
NM_001407940.1:c.3160C>T
NM_001407941.1:c.3160C>T
NM_001407942.1:c.3145C>T
NM_001407943.1:c.3142C>T
NM_001407944.1:c.3145C>T
NM_001407945.1:c.3145C>T
NM_001407946.1:c.2953C>T
NM_001407947.1:c.2953C>T
NM_001407948.1:c.2953C>T
NM_001407949.1:c.2953C>T
NM_001407950.1:c.2953C>T
NM_001407951.1:c.2953C>T
NM_001407952.1:c.2953C>T
NM_001407953.1:c.2953C>T
NM_001407954.1:c.2950C>T
NM_001407955.1:c.2950C>T
NM_001407956.1:c.2950C>T
NM_001407957.1:c.2953C>T
NM_001407958.1:c.2950C>T
NM_001407959.1:c.2905C>T
NM_001407960.1:c.2905C>T
NM_001407962.1:c.2902C>T
NM_001407963.1:c.2905C>T
NM_001407964.1:c.3142C>T
NM_001407965.1:c.2782C>T
NM_001407966.1:c.2398C>T
NM_001407967.1:c.2398C>T
NM_001407968.1:c.788-106C>T
NM_001407969.1:c.788-106C>T
NM_001407970.1:c.788-1213C>T
NM_001407971.1:c.788-1213C>T
NM_001407972.1:c.785-1213C>T
NM_001407973.1:c.788-1213C>T
NM_001407974.1:c.788-1213C>T
NM_001407975.1:c.788-1213C>T
NM_001407976.1:c.788-1213C>T
NM_001407977.1:c.788-1213C>T
NM_001407978.1:c.788-1213C>T
NM_001407979.1:c.788-1213C>T
NM_001407980.1:c.788-1213C>T
NM_001407981.1:c.788-1213C>T
NM_001407982.1:c.788-1213C>T
NM_001407983.1:c.788-1213C>T
NM_001407984.1:c.785-1213C>T
NM_001407985.1:c.785-1213C>T
NM_001407986.1:c.785-1213C>T
NM_001407990.1:c.788-1213C>T
NM_001407991.1:c.785-1213C>T
NM_001407992.1:c.785-1213C>T
NM_001407993.1:c.788-1213C>T
NM_001408392.1:c.785-1213C>T
NM_001408396.1:c.785-1213C>T
NM_001408397.1:c.785-1213C>T
NM_001408398.1:c.785-1213C>T
NM_001408399.1:c.785-1213C>T
NM_001408400.1:c.785-1213C>T
NM_001408401.1:c.785-1213C>T
NM_001408402.1:c.785-1213C>T
NM_001408403.1:c.788-1213C>T
NM_001408404.1:c.788-1213C>T
NM_001408406.1:c.791-1222C>T
NM_001408407.1:c.785-1213C>T
NM_001408408.1:c.779-1213C>T
NM_001408409.1:c.710-1213C>T
NM_001408410.1:c.647-1213C>T
NM_001408411.1:c.710-1213C>T
NM_001408412.1:c.710-1213C>T
NM_001408413.1:c.707-1213C>T
NM_001408414.1:c.710-1213C>T
NM_001408415.1:c.710-1213C>T
NM_001408416.1:c.707-1213C>T
NM_001408418.1:c.671-1213C>T
NM_001408419.1:c.671-1213C>T
NM_001408420.1:c.671-1213C>T
NM_001408421.1:c.668-1213C>T
NM_001408422.1:c.671-1213C>T
NM_001408423.1:c.671-1213C>T
NM_001408424.1:c.668-1213C>T
NM_001408425.1:c.665-1213C>T
NM_001408426.1:c.665-1213C>T
NM_001408427.1:c.665-1213C>T
NM_001408428.1:c.665-1213C>T
NM_001408429.1:c.665-1213C>T
NM_001408430.1:c.665-1213C>T
NM_001408431.1:c.668-1213C>T
NM_001408432.1:c.662-1213C>T
NM_001408433.1:c.662-1213C>T
NM_001408434.1:c.662-1213C>T
NM_001408435.1:c.662-1213C>T
NM_001408436.1:c.665-1213C>T
NM_001408437.1:c.665-1213C>T
NM_001408438.1:c.665-1213C>T
NM_001408439.1:c.665-1213C>T
NM_001408440.1:c.665-1213C>T
NM_001408441.1:c.665-1213C>T
NM_001408442.1:c.665-1213C>T
NM_001408443.1:c.665-1213C>T
NM_001408444.1:c.665-1213C>T
NM_001408445.1:c.662-1213C>T
NM_001408446.1:c.662-1213C>T
NM_001408447.1:c.662-1213C>T
NM_001408448.1:c.662-1213C>T
NM_001408450.1:c.662-1213C>T
NM_001408451.1:c.653-1213C>T
NM_001408452.1:c.647-1213C>T
NM_001408453.1:c.647-1213C>T
NM_001408454.1:c.647-1213C>T
NM_001408455.1:c.647-1213C>T
NM_001408456.1:c.647-1213C>T
NM_001408457.1:c.647-1213C>T
NM_001408458.1:c.647-1213C>T
NM_001408459.1:c.647-1213C>T
NM_001408460.1:c.647-1213C>T
NM_001408461.1:c.647-1213C>T
NM_001408462.1:c.644-1213C>T
NM_001408463.1:c.644-1213C>T
NM_001408464.1:c.644-1213C>T
NM_001408465.1:c.644-1213C>T
NM_001408466.1:c.647-1213C>T
NM_001408467.1:c.647-1213C>T
NM_001408468.1:c.644-1213C>T
NM_001408469.1:c.647-1213C>T
NM_001408470.1:c.644-1213C>T
NM_001408472.1:c.788-1213C>T
NM_001408473.1:c.785-1213C>T
NM_001408474.1:c.587-1213C>T
NM_001408475.1:c.584-1213C>T
NM_001408476.1:c.587-1213C>T
NM_001408478.1:c.578-1213C>T
NM_001408479.1:c.578-1213C>T
NM_001408480.1:c.578-1213C>T
NM_001408481.1:c.578-1213C>T
NM_001408482.1:c.578-1213C>T
NM_001408483.1:c.578-1213C>T
NM_001408484.1:c.578-1213C>T
NM_001408485.1:c.578-1213C>T
NM_001408489.1:c.578-1213C>T
NM_001408490.1:c.575-1213C>T
NM_001408491.1:c.575-1213C>T
NM_001408492.1:c.578-1213C>T
NM_001408493.1:c.575-1213C>T
NM_001408494.1:c.548-1213C>T
NM_001408495.1:c.545-1213C>T
NM_001408496.1:c.524-1213C>T
NM_001408497.1:c.524-1213C>T
NM_001408498.1:c.524-1213C>T
NM_001408499.1:c.524-1213C>T
NM_001408500.1:c.524-1213C>T
NM_001408501.1:c.524-1213C>T
NM_001408502.1:c.455-1213C>T
NM_001408503.1:c.521-1213C>T
NM_001408504.1:c.521-1213C>T
NM_001408505.1:c.521-1213C>T
NM_001408506.1:c.461-1213C>T
NM_001408507.1:c.461-1213C>T
NM_001408508.1:c.452-1213C>T
NM_001408509.1:c.452-1213C>T
NM_001408510.1:c.407-1213C>T
NM_001408511.1:c.404-1213C>T
NM_001408512.1:c.284-1213C>T
NM_001408513.1:c.578-1213C>T
NM_001408514.1:c.578-1213C>T
NM_007294.4:c.3286C>TMANE SELECT
NM_007297.4:c.3145C>T
NM_007298.4:c.788-1213C>T
NM_007299.4:c.788-1213C>T
NM_007300.4:c.3286C>T
NP_001394500.1:p.Gln1025Ter
NP_001394510.1:p.Gln1096Ter
NP_001394511.1:p.Gln1096Ter
NP_001394512.1:p.Gln1096Ter
NP_001394514.1:p.Gln1096Ter
NP_001394516.1:p.Gln1095Ter
NP_001394519.1:p.Gln1095Ter
NP_001394520.1:p.Gln1095Ter
NP_001394522.1:p.Gln1096Ter
NP_001394523.1:p.Gln1096Ter
NP_001394525.1:p.Gln1096Ter
NP_001394526.1:p.Gln1096Ter
NP_001394527.1:p.Gln1096Ter
NP_001394531.1:p.Gln1096Ter
NP_001394532.1:p.Gln1096Ter
NP_001394534.1:p.Gln1096Ter
NP_001394539.1:p.Gln1095Ter
NP_001394540.1:p.Gln1095Ter
NP_001394541.1:p.Gln1095Ter
NP_001394542.1:p.Gln1095Ter
NP_001394543.1:p.Gln1095Ter
NP_001394544.1:p.Gln1095Ter
NP_001394545.1:p.Gln1096Ter
NP_001394546.1:p.Gln1096Ter
NP_001394547.1:p.Gln1096Ter
NP_001394548.1:p.Gln1096Ter
NP_001394549.1:p.Gln1096Ter
NP_001394550.1:p.Gln1096Ter
NP_001394551.1:p.Gln1096Ter
NP_001394552.1:p.Gln1096Ter
NP_001394553.1:p.Gln1096Ter
NP_001394554.1:p.Gln1096Ter
NP_001394555.1:p.Gln1096Ter
NP_001394556.1:p.Gln1095Ter
NP_001394557.1:p.Gln1095Ter
NP_001394558.1:p.Gln1095Ter
NP_001394559.1:p.Gln1095Ter
NP_001394560.1:p.Gln1095Ter
NP_001394561.1:p.Gln1095Ter
NP_001394562.1:p.Gln1095Ter
NP_001394563.1:p.Gln1095Ter
NP_001394564.1:p.Gln1095Ter
NP_001394565.1:p.Gln1095Ter
NP_001394566.1:p.Gln1095Ter
NP_001394567.1:p.Gln1095Ter
NP_001394568.1:p.Gln1096Ter
NP_001394569.1:p.Gln1096Ter
NP_001394570.1:p.Gln1096Ter
NP_001394571.1:p.Gln1096Ter
NP_001394573.1:p.Gln1095Ter
NP_001394574.1:p.Gln1095Ter
NP_001394575.1:p.Gln1093Ter
NP_001394576.1:p.Gln1093Ter
NP_001394577.1:p.Gln1055Ter
NP_001394578.1:p.Gln1054Ter
NP_001394581.1:p.Gln1096Ter
NP_001394582.1:p.Gln1070Ter
NP_001394583.1:p.Gln1070Ter
NP_001394584.1:p.Gln1070Ter
NP_001394585.1:p.Gln1070Ter
NP_001394586.1:p.Gln1070Ter
NP_001394587.1:p.Gln1070Ter
NP_001394588.1:p.Gln1069Ter
NP_001394589.1:p.Gln1069Ter
NP_001394590.1:p.Gln1069Ter
NP_001394591.1:p.Gln1069Ter
NP_001394592.1:p.Gln1070Ter
NP_001394593.1:p.Gln1055Ter
NP_001394594.1:p.Gln1055Ter
NP_001394595.1:p.Gln1055Ter
NP_001394596.1:p.Gln1055Ter
NP_001394597.1:p.Gln1055Ter
NP_001394598.1:p.Gln1055Ter
NP_001394599.1:p.Gln1054Ter
NP_001394600.1:p.Gln1054Ter
NP_001394601.1:p.Gln1054Ter
NP_001394602.1:p.Gln1054Ter
NP_001394603.1:p.Gln1055Ter
NP_001394604.1:p.Gln1055Ter
NP_001394605.1:p.Gln1055Ter
NP_001394606.1:p.Gln1055Ter
NP_001394607.1:p.Gln1055Ter
NP_001394608.1:p.Gln1055Ter
NP_001394609.1:p.Gln1055Ter
NP_001394610.1:p.Gln1055Ter
NP_001394611.1:p.Gln1055Ter
NP_001394612.1:p.Gln1055Ter
NP_001394613.1:p.Gln1096Ter
NP_001394614.1:p.Gln1054Ter
NP_001394615.1:p.Gln1054Ter
NP_001394616.1:p.Gln1054Ter
NP_001394617.1:p.Gln1054Ter
NP_001394618.1:p.Gln1054Ter
NP_001394619.1:p.Gln1054Ter
NP_001394620.1:p.Gln1054Ter
NP_001394621.1:p.Gln1049Ter
NP_001394623.1:p.Gln1049Ter
NP_001394624.1:p.Gln1049Ter
NP_001394625.1:p.Gln1049Ter
NP_001394626.1:p.Gln1049Ter
NP_001394627.1:p.Gln1049Ter
NP_001394653.1:p.Gln1049Ter
NP_001394654.1:p.Gln1049Ter
NP_001394655.1:p.Gln1049Ter
NP_001394656.1:p.Gln1049Ter
NP_001394657.1:p.Gln1049Ter
NP_001394658.1:p.Gln1049Ter
NP_001394659.1:p.Gln1049Ter
NP_001394660.1:p.Gln1049Ter
NP_001394661.1:p.Gln1049Ter
NP_001394662.1:p.Gln1049Ter
NP_001394663.1:p.Gln1049Ter
NP_001394664.1:p.Gln1049Ter
NP_001394665.1:p.Gln1049Ter
NP_001394666.1:p.Gln1049Ter
NP_001394667.1:p.Gln1049Ter
NP_001394668.1:p.Gln1049Ter
NP_001394669.1:p.Gln1048Ter
NP_001394670.1:p.Gln1048Ter
NP_001394671.1:p.Gln1048Ter
NP_001394672.1:p.Gln1048Ter
NP_001394673.1:p.Gln1048Ter
NP_001394674.1:p.Gln1048Ter
NP_001394675.1:p.Gln1048Ter
NP_001394676.1:p.Gln1048Ter
NP_001394677.1:p.Gln1048Ter
NP_001394678.1:p.Gln1048Ter
NP_001394679.1:p.Gln1049Ter
NP_001394680.1:p.Gln1049Ter
NP_001394681.1:p.Gln1049Ter
NP_001394767.1:p.Gln1048Ter
NP_001394768.1:p.Gln1048Ter
NP_001394770.1:p.Gln1048Ter
NP_001394771.1:p.Gln1048Ter
NP_001394772.1:p.Gln1048Ter
NP_001394773.1:p.Gln1048Ter
NP_001394774.1:p.Gln1048Ter
NP_001394775.1:p.Gln1048Ter
NP_001394776.1:p.Gln1048Ter
NP_001394777.1:p.Gln1048Ter
NP_001394778.1:p.Gln1048Ter
NP_001394779.1:p.Gln1049Ter
NP_001394780.1:p.Gln1049Ter
NP_001394781.1:p.Gln1049Ter
NP_001394782.1:p.Gln1025Ter
NP_001394783.1:p.Gln1096Ter
NP_001394787.1:p.Gln1096Ter
NP_001394788.1:p.Gln1096Ter
NP_001394789.1:p.Gln1095Ter
NP_001394790.1:p.Gln1095Ter
NP_001394791.1:p.Gln1029Ter
NP_001394792.1:p.Gln1055Ter
NP_001394803.1:p.Gln1028Ter
NP_001394804.1:p.Gln1028Ter
NP_001394808.1:p.Gln1026Ter
NP_001394810.1:p.Gln1026Ter
NP_001394811.1:p.Gln1026Ter
NP_001394813.1:p.Gln1026Ter
NP_001394814.1:p.Gln1026Ter
NP_001394815.1:p.Gln1026Ter
NP_001394816.1:p.Gln1026Ter
NP_001394818.1:p.Gln1026Ter
NP_001394823.1:p.Gln1025Ter
NP_001394824.1:p.Gln1025Ter
NP_001394825.1:p.Gln1025Ter
NP_001394826.1:p.Gln1025Ter
NP_001394827.1:p.Gln1025Ter
NP_001394828.1:p.Gln1025Ter
NP_001394829.1:p.Gln1026Ter
NP_001394831.1:p.Gln1026Ter
NP_001394833.1:p.Gln1026Ter
NP_001394835.1:p.Gln1026Ter
NP_001394836.1:p.Gln1026Ter
NP_001394837.1:p.Gln1026Ter
NP_001394838.1:p.Gln1026Ter
NP_001394839.1:p.Gln1026Ter
NP_001394844.1:p.Gln1025Ter
NP_001394845.1:p.Gln1025Ter
NP_001394846.1:p.Gln1025Ter
NP_001394847.1:p.Gln1025Ter
NP_001394848.1:p.Gln1055Ter
NP_001394849.1:p.Gln1008Ter
NP_001394850.1:p.Gln1008Ter
NP_001394851.1:p.Gln1008Ter
NP_001394852.1:p.Gln1008Ter
NP_001394853.1:p.Gln1008Ter
NP_001394854.1:p.Gln1008Ter
NP_001394855.1:p.Gln1008Ter
NP_001394856.1:p.Gln1008Ter
NP_001394857.1:p.Gln1008Ter
NP_001394858.1:p.Gln1008Ter
NP_001394859.1:p.Gln1007Ter
NP_001394860.1:p.Gln1007Ter
NP_001394861.1:p.Gln1007Ter
NP_001394862.1:p.Gln1008Ter
NP_001394863.1:p.Gln1007Ter
NP_001394864.1:p.Gln1008Ter
NP_001394865.1:p.Gln1007Ter
NP_001394866.1:p.Gln1055Ter
NP_001394867.1:p.Gln1055Ter
NP_001394868.1:p.Gln1055Ter
NP_001394869.1:p.Gln1054Ter
NP_001394870.1:p.Gln1054Ter
NP_001394871.1:p.Gln1049Ter
NP_001394872.1:p.Gln1048Ter
NP_001394873.1:p.Gln1049Ter
NP_001394874.1:p.Gln1049Ter
NP_001394875.1:p.Gln985Ter
NP_001394876.1:p.Gln985Ter
NP_001394877.1:p.Gln985Ter
NP_001394878.1:p.Gln985Ter
NP_001394879.1:p.Gln985Ter
NP_001394880.1:p.Gln985Ter
NP_001394881.1:p.Gln985Ter
NP_001394882.1:p.Gln985Ter
NP_001394883.1:p.Gln984Ter
NP_001394884.1:p.Gln984Ter
NP_001394885.1:p.Gln984Ter
NP_001394886.1:p.Gln985Ter
NP_001394887.1:p.Gln984Ter
NP_001394888.1:p.Gln969Ter
NP_001394889.1:p.Gln969Ter
NP_001394891.1:p.Gln968Ter
NP_001394892.1:p.Gln969Ter
NP_001394893.1:p.Gln1048Ter
NP_001394894.1:p.Gln928Ter
NP_001394895.1:p.Gln800Ter
NP_001394896.1:p.Gln800Ter
NP_009225.1:p.Gln1096Ter
NP_009225.1:p.Gln1096Ter
NP_009228.2:p.Gln1049Ter
NP_009231.2:p.Gln1096Ter
LRG_292t1:c.3286C>T
LRG_292:g.125739C>T
LRG_292p1:p.Gln1096Ter
NC_000017.10:g.41244262G>A
NM_007294.3:c.3286C>T
NM_007300.3:c.3286C>T
NR_027676.1:n.3422C>T
U14680.1:n.3405C>T

Protein change:

Q1007*

Links:

dbSNP: rs80357485

NCBI 1000 Genomes Browser:

rs80357485

Molecular consequence:

NM_001407968.1:c.788-106C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-106C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1222C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1213C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.3073C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.3277C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.3277C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.3160C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.3208C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.3208C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.3208C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.3208C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.3208C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.3208C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.3205C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.3205C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.3205C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.3205C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.3208C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.3160C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.3160C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.3160C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.3160C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.3160C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.3160C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.3160C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.3160C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.3160C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.3160C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.3160C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.3073C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.3283C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.3085C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.3082C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.3082C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.3073C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.3073C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.3073C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.3073C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.3073C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.3073C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.3076C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.3073C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.3073C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.3073C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.3073C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.3019C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.3019C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.3019C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.3019C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.3019C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.3163C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.3160C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.3160C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407942.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407943.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407944.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407945.1:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.2953C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.2953C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.2953C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.2953C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.2953C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.2953C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.2953C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.2953C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.2950C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.2950C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.2950C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.2953C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.2950C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.2905C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.2905C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.2902C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.2905C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.3142C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.2782C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.2398C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.2398C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.3286C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.3145C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.3286C>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
SCV000144698	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (May 29, 2002)	germline	clinical testing
SCV000299908	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,
SCV000325599	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,
SCV002580349	MGZ Medical Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 1, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003927172	KCCC/NGS Laboratory, Kuwait Cancer Control Center	no assertion criteria provided	Pathogenic (May 5, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	2	not provided	not provided	not provided	clinical testing, curation
Pakistani	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A, Haile RW, Malone KE, Capanu M, Diep A, Törngren T, Teraoka S, Begg CB, Thomas DC, Concannon P, Mellemkjaer L, Bernstein L, Tellhed L, Xue S, Olson ER, Liang X, Dolle J, Børresen-Dale AL, Bernstein JL.

Hum Mutat. 2010 Mar;31(3):E1200-40. doi: 10.1002/humu.21202.

PubMed [citation]

PMID:: 20104584
PMCID:: PMC2928257

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144698.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Pakistani	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), SCV000299908.2

#	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, SCV000325599.4

#	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	2	not provided

From MGZ Medical Genetics Center, SCV002580349.1

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

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

From KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV003927172.1

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

Description

A known pathogenic mutation was detected in the BRCA1 gene (c.3286C>T). This sequence change creates a premature translational stop signal (p.Gln1096*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in gnomAD genomes. This variant has been reported in individuals affected with breast and ovarian cancer (PMID: 15617999, 25682074, 27157322). In-silico predictions show pathogenic computational verdict based on 5 pathogenic predictions from BayesDel_addAF, DANN, EIGEN, FATHMM-MKL and MutationTaster vs no benign predictions.This variant is also known as c.3405C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 54818) with 8 submissions all of which describe it as pathogenic, 3 stars, reviewed by expert panel. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.

#	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	not provided	not provided

Last Updated: Oct 26, 2024

ClinVar

Relating variation to medicine