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NM_007294.4(BRCA1):c.3286C>T (p.Gln1096Ter) AND Malignant tumor of breast

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001356246.9

Allele description

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]

Condition(s)

Name:
Malignant tumor of breast
Synonyms:
Malignant breast neoplasm; Cancer breast
Identifiers:
MONDO: MONDO:0007254; MedGen: C0006142

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001551361Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

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no assertion criteria provided
Pathogenicunknownclinical testing

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001551361.1

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

Description

BRCA1, EXON11, c.3286C>T, p.Gln1096X, Heterozygous, PathogenicrnThe BRCA1 p.Gln1096X variant was identified in 3 of 2880 proband chromosomes (frequency: 0.001) from individuals or families with breast and ovarian cancer and was not identified in 400 control chromosomes from healthy individuals (Liede 2002, Majdak 2005, Wong-Brown 2015). The variant was also identified in the following databases: dbSNP (ID: rs80357485) as "With Pathogenic allele", ClinVar (5x pathogenic), Clinvitae (2x pathogenic), LOVD 3.0 (1x), UMD-LSDB (1x causal), BIC Database (1x pathogenic), and ARUP Laboratories. The variant was not identified in the COGR, Cosmic, MutDB, or the Zhejiang Colon Cancer Database. The variant was identified in control databases in 1 of 245392 chromosomes at a frequency of 0.000004 (Genome Aggregation Database Feb 27, 2017). It was observed in the East Asian population in 1 of 17248 chromosomes (freq: 0.00006), but not in the African, Ashkenazi Jewish, European (Finnish), European (Non-Finnish), Latino, Other, and South Asian populations. The c.3286C>T variant leads to a premature stop codon at position 1096 which is predicted to lead to a truncated or absent protein and loss of function. Loss of function variants of the BRCA1 gene are an established mechanism of disease in hereditary breast and ovarian cancer and is the type of variant expected to cause the disorder. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic.

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

Last Updated: Jun 17, 2024