NM_007294.4(BRCA1):c.3403C>T (p.Gln1135Ter) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Jan 2, 2025
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000496327.16

Allele description [Variation Report for NM_007294.4(BRCA1):c.3403C>T (p.Gln1135Ter)]

NM_007294.4(BRCA1):c.3403C>T (p.Gln1135Ter)

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.3403C>T (p.Gln1135Ter)

HGVS:

NC_000017.11:g.43092128G>A
NG_005905.2:g.125856C>T
NG_087068.1:g.1110G>A
NM_001407571.1:c.3190C>T
NM_001407581.1:c.3403C>T
NM_001407582.1:c.3403C>T
NM_001407583.1:c.3403C>T
NM_001407585.1:c.3403C>T
NM_001407587.1:c.3400C>T
NM_001407590.1:c.3400C>T
NM_001407591.1:c.3400C>T
NM_001407593.1:c.3403C>T
NM_001407594.1:c.3403C>T
NM_001407596.1:c.3403C>T
NM_001407597.1:c.3403C>T
NM_001407598.1:c.3403C>T
NM_001407602.1:c.3403C>T
NM_001407603.1:c.3403C>T
NM_001407605.1:c.3403C>T
NM_001407610.1:c.3400C>T
NM_001407611.1:c.3400C>T
NM_001407612.1:c.3400C>T
NM_001407613.1:c.3400C>T
NM_001407614.1:c.3400C>T
NM_001407615.1:c.3400C>T
NM_001407616.1:c.3403C>T
NM_001407617.1:c.3403C>T
NM_001407618.1:c.3403C>T
NM_001407619.1:c.3403C>T
NM_001407620.1:c.3403C>T
NM_001407621.1:c.3403C>T
NM_001407622.1:c.3403C>T
NM_001407623.1:c.3403C>T
NM_001407624.1:c.3403C>T
NM_001407625.1:c.3403C>T
NM_001407626.1:c.3403C>T
NM_001407627.1:c.3400C>T
NM_001407628.1:c.3400C>T
NM_001407629.1:c.3400C>T
NM_001407630.1:c.3400C>T
NM_001407631.1:c.3400C>T
NM_001407632.1:c.3400C>T
NM_001407633.1:c.3400C>T
NM_001407634.1:c.3400C>T
NM_001407635.1:c.3400C>T
NM_001407636.1:c.3400C>T
NM_001407637.1:c.3400C>T
NM_001407638.1:c.3400C>T
NM_001407639.1:c.3403C>T
NM_001407640.1:c.3403C>T
NM_001407641.1:c.3403C>T
NM_001407642.1:c.3403C>T
NM_001407644.1:c.3400C>T
NM_001407645.1:c.3400C>T
NM_001407646.1:c.3394C>T
NM_001407647.1:c.3394C>T
NM_001407648.1:c.3280C>T
NM_001407649.1:c.3277C>T
NM_001407652.1:c.3403C>T
NM_001407653.1:c.3325C>T
NM_001407654.1:c.3325C>T
NM_001407655.1:c.3325C>T
NM_001407656.1:c.3325C>T
NM_001407657.1:c.3325C>T
NM_001407658.1:c.3325C>T
NM_001407659.1:c.3322C>T
NM_001407660.1:c.3322C>T
NM_001407661.1:c.3322C>T
NM_001407662.1:c.3322C>T
NM_001407663.1:c.3325C>T
NM_001407664.1:c.3280C>T
NM_001407665.1:c.3280C>T
NM_001407666.1:c.3280C>T
NM_001407667.1:c.3280C>T
NM_001407668.1:c.3280C>T
NM_001407669.1:c.3280C>T
NM_001407670.1:c.3277C>T
NM_001407671.1:c.3277C>T
NM_001407672.1:c.3277C>T
NM_001407673.1:c.3277C>T
NM_001407674.1:c.3280C>T
NM_001407675.1:c.3280C>T
NM_001407676.1:c.3280C>T
NM_001407677.1:c.3280C>T
NM_001407678.1:c.3280C>T
NM_001407679.1:c.3280C>T
NM_001407680.1:c.3280C>T
NM_001407681.1:c.3280C>T
NM_001407682.1:c.3280C>T
NM_001407683.1:c.3280C>T
NM_001407684.1:c.3403C>T
NM_001407685.1:c.3277C>T
NM_001407686.1:c.3277C>T
NM_001407687.1:c.3277C>T
NM_001407688.1:c.3277C>T
NM_001407689.1:c.3277C>T
NM_001407690.1:c.3277C>T
NM_001407691.1:c.3277C>T
NM_001407692.1:c.3262C>T
NM_001407694.1:c.3262C>T
NM_001407695.1:c.3262C>T
NM_001407696.1:c.3262C>T
NM_001407697.1:c.3262C>T
NM_001407698.1:c.3262C>T
NM_001407724.1:c.3262C>T
NM_001407725.1:c.3262C>T
NM_001407726.1:c.3262C>T
NM_001407727.1:c.3262C>T
NM_001407728.1:c.3262C>T
NM_001407729.1:c.3262C>T
NM_001407730.1:c.3262C>T
NM_001407731.1:c.3262C>T
NM_001407732.1:c.3262C>T
NM_001407733.1:c.3262C>T
NM_001407734.1:c.3262C>T
NM_001407735.1:c.3262C>T
NM_001407736.1:c.3262C>T
NM_001407737.1:c.3262C>T
NM_001407738.1:c.3262C>T
NM_001407739.1:c.3262C>T
NM_001407740.1:c.3259C>T
NM_001407741.1:c.3259C>T
NM_001407742.1:c.3259C>T
NM_001407743.1:c.3259C>T
NM_001407744.1:c.3259C>T
NM_001407745.1:c.3259C>T
NM_001407746.1:c.3259C>T
NM_001407747.1:c.3259C>T
NM_001407748.1:c.3259C>T
NM_001407749.1:c.3259C>T
NM_001407750.1:c.3262C>T
NM_001407751.1:c.3262C>T
NM_001407752.1:c.3262C>T
NM_001407838.1:c.3259C>T
NM_001407839.1:c.3259C>T
NM_001407841.1:c.3259C>T
NM_001407842.1:c.3259C>T
NM_001407843.1:c.3259C>T
NM_001407844.1:c.3259C>T
NM_001407845.1:c.3259C>T
NM_001407846.1:c.3259C>T
NM_001407847.1:c.3259C>T
NM_001407848.1:c.3259C>T
NM_001407849.1:c.3259C>T
NM_001407850.1:c.3262C>T
NM_001407851.1:c.3262C>T
NM_001407852.1:c.3262C>T
NM_001407853.1:c.3190C>T
NM_001407854.1:c.3403C>T
NM_001407858.1:c.3403C>T
NM_001407859.1:c.3403C>T
NM_001407860.1:c.3400C>T
NM_001407861.1:c.3400C>T
NM_001407862.1:c.3202C>T
NM_001407863.1:c.3280C>T
NM_001407874.1:c.3199C>T
NM_001407875.1:c.3199C>T
NM_001407879.1:c.3193C>T
NM_001407881.1:c.3193C>T
NM_001407882.1:c.3193C>T
NM_001407884.1:c.3193C>T
NM_001407885.1:c.3193C>T
NM_001407886.1:c.3193C>T
NM_001407887.1:c.3193C>T
NM_001407889.1:c.3193C>T
NM_001407894.1:c.3190C>T
NM_001407895.1:c.3190C>T
NM_001407896.1:c.3190C>T
NM_001407897.1:c.3190C>T
NM_001407898.1:c.3190C>T
NM_001407899.1:c.3190C>T
NM_001407900.1:c.3193C>T
NM_001407902.1:c.3193C>T
NM_001407904.1:c.3193C>T
NM_001407906.1:c.3193C>T
NM_001407907.1:c.3193C>T
NM_001407908.1:c.3193C>T
NM_001407909.1:c.3193C>T
NM_001407910.1:c.3193C>T
NM_001407915.1:c.3190C>T
NM_001407916.1:c.3190C>T
NM_001407917.1:c.3190C>T
NM_001407918.1:c.3190C>T
NM_001407919.1:c.3280C>T
NM_001407920.1:c.3139C>T
NM_001407921.1:c.3139C>T
NM_001407922.1:c.3139C>T
NM_001407923.1:c.3139C>T
NM_001407924.1:c.3139C>T
NM_001407925.1:c.3139C>T
NM_001407926.1:c.3139C>T
NM_001407927.1:c.3139C>T
NM_001407928.1:c.3139C>T
NM_001407929.1:c.3139C>T
NM_001407930.1:c.3136C>T
NM_001407931.1:c.3136C>T
NM_001407932.1:c.3136C>T
NM_001407933.1:c.3139C>T
NM_001407934.1:c.3136C>T
NM_001407935.1:c.3139C>T
NM_001407936.1:c.3136C>T
NM_001407937.1:c.3280C>T
NM_001407938.1:c.3280C>T
NM_001407939.1:c.3280C>T
NM_001407940.1:c.3277C>T
NM_001407941.1:c.3277C>T
NM_001407942.1:c.3262C>T
NM_001407943.1:c.3259C>T
NM_001407944.1:c.3262C>T
NM_001407945.1:c.3262C>T
NM_001407946.1:c.3070C>T
NM_001407947.1:c.3070C>T
NM_001407948.1:c.3070C>T
NM_001407949.1:c.3070C>T
NM_001407950.1:c.3070C>T
NM_001407951.1:c.3070C>T
NM_001407952.1:c.3070C>T
NM_001407953.1:c.3070C>T
NM_001407954.1:c.3067C>T
NM_001407955.1:c.3067C>T
NM_001407956.1:c.3067C>T
NM_001407957.1:c.3070C>T
NM_001407958.1:c.3067C>T
NM_001407959.1:c.3022C>T
NM_001407960.1:c.3022C>T
NM_001407962.1:c.3019C>T
NM_001407963.1:c.3022C>T
NM_001407964.1:c.3259C>T
NM_001407965.1:c.2899C>T
NM_001407966.1:c.2515C>T
NM_001407967.1:c.2515C>T
NM_001407968.1:c.799C>T
NM_001407969.1:c.799C>T
NM_001407970.1:c.788-1096C>T
NM_001407971.1:c.788-1096C>T
NM_001407972.1:c.785-1096C>T
NM_001407973.1:c.788-1096C>T
NM_001407974.1:c.788-1096C>T
NM_001407975.1:c.788-1096C>T
NM_001407976.1:c.788-1096C>T
NM_001407977.1:c.788-1096C>T
NM_001407978.1:c.788-1096C>T
NM_001407979.1:c.788-1096C>T
NM_001407980.1:c.788-1096C>T
NM_001407981.1:c.788-1096C>T
NM_001407982.1:c.788-1096C>T
NM_001407983.1:c.788-1096C>T
NM_001407984.1:c.785-1096C>T
NM_001407985.1:c.785-1096C>T
NM_001407986.1:c.785-1096C>T
NM_001407990.1:c.788-1096C>T
NM_001407991.1:c.785-1096C>T
NM_001407992.1:c.785-1096C>T
NM_001407993.1:c.788-1096C>T
NM_001408392.1:c.785-1096C>T
NM_001408396.1:c.785-1096C>T
NM_001408397.1:c.785-1096C>T
NM_001408398.1:c.785-1096C>T
NM_001408399.1:c.785-1096C>T
NM_001408400.1:c.785-1096C>T
NM_001408401.1:c.785-1096C>T
NM_001408402.1:c.785-1096C>T
NM_001408403.1:c.788-1096C>T
NM_001408404.1:c.788-1096C>T
NM_001408406.1:c.791-1105C>T
NM_001408407.1:c.785-1096C>T
NM_001408408.1:c.779-1096C>T
NM_001408409.1:c.710-1096C>T
NM_001408410.1:c.647-1096C>T
NM_001408411.1:c.710-1096C>T
NM_001408412.1:c.710-1096C>T
NM_001408413.1:c.707-1096C>T
NM_001408414.1:c.710-1096C>T
NM_001408415.1:c.710-1096C>T
NM_001408416.1:c.707-1096C>T
NM_001408418.1:c.671-1096C>T
NM_001408419.1:c.671-1096C>T
NM_001408420.1:c.671-1096C>T
NM_001408421.1:c.668-1096C>T
NM_001408422.1:c.671-1096C>T
NM_001408423.1:c.671-1096C>T
NM_001408424.1:c.668-1096C>T
NM_001408425.1:c.665-1096C>T
NM_001408426.1:c.665-1096C>T
NM_001408427.1:c.665-1096C>T
NM_001408428.1:c.665-1096C>T
NM_001408429.1:c.665-1096C>T
NM_001408430.1:c.665-1096C>T
NM_001408431.1:c.668-1096C>T
NM_001408432.1:c.662-1096C>T
NM_001408433.1:c.662-1096C>T
NM_001408434.1:c.662-1096C>T
NM_001408435.1:c.662-1096C>T
NM_001408436.1:c.665-1096C>T
NM_001408437.1:c.665-1096C>T
NM_001408438.1:c.665-1096C>T
NM_001408439.1:c.665-1096C>T
NM_001408440.1:c.665-1096C>T
NM_001408441.1:c.665-1096C>T
NM_001408442.1:c.665-1096C>T
NM_001408443.1:c.665-1096C>T
NM_001408444.1:c.665-1096C>T
NM_001408445.1:c.662-1096C>T
NM_001408446.1:c.662-1096C>T
NM_001408447.1:c.662-1096C>T
NM_001408448.1:c.662-1096C>T
NM_001408450.1:c.662-1096C>T
NM_001408451.1:c.653-1096C>T
NM_001408452.1:c.647-1096C>T
NM_001408453.1:c.647-1096C>T
NM_001408454.1:c.647-1096C>T
NM_001408455.1:c.647-1096C>T
NM_001408456.1:c.647-1096C>T
NM_001408457.1:c.647-1096C>T
NM_001408458.1:c.647-1096C>T
NM_001408459.1:c.647-1096C>T
NM_001408460.1:c.647-1096C>T
NM_001408461.1:c.647-1096C>T
NM_001408462.1:c.644-1096C>T
NM_001408463.1:c.644-1096C>T
NM_001408464.1:c.644-1096C>T
NM_001408465.1:c.644-1096C>T
NM_001408466.1:c.647-1096C>T
NM_001408467.1:c.647-1096C>T
NM_001408468.1:c.644-1096C>T
NM_001408469.1:c.647-1096C>T
NM_001408470.1:c.644-1096C>T
NM_001408472.1:c.788-1096C>T
NM_001408473.1:c.785-1096C>T
NM_001408474.1:c.587-1096C>T
NM_001408475.1:c.584-1096C>T
NM_001408476.1:c.587-1096C>T
NM_001408478.1:c.578-1096C>T
NM_001408479.1:c.578-1096C>T
NM_001408480.1:c.578-1096C>T
NM_001408481.1:c.578-1096C>T
NM_001408482.1:c.578-1096C>T
NM_001408483.1:c.578-1096C>T
NM_001408484.1:c.578-1096C>T
NM_001408485.1:c.578-1096C>T
NM_001408489.1:c.578-1096C>T
NM_001408490.1:c.575-1096C>T
NM_001408491.1:c.575-1096C>T
NM_001408492.1:c.578-1096C>T
NM_001408493.1:c.575-1096C>T
NM_001408494.1:c.548-1096C>T
NM_001408495.1:c.545-1096C>T
NM_001408496.1:c.524-1096C>T
NM_001408497.1:c.524-1096C>T
NM_001408498.1:c.524-1096C>T
NM_001408499.1:c.524-1096C>T
NM_001408500.1:c.524-1096C>T
NM_001408501.1:c.524-1096C>T
NM_001408502.1:c.455-1096C>T
NM_001408503.1:c.521-1096C>T
NM_001408504.1:c.521-1096C>T
NM_001408505.1:c.521-1096C>T
NM_001408506.1:c.461-1096C>T
NM_001408507.1:c.461-1096C>T
NM_001408508.1:c.452-1096C>T
NM_001408509.1:c.452-1096C>T
NM_001408510.1:c.407-1096C>T
NM_001408511.1:c.404-1096C>T
NM_001408512.1:c.284-1096C>T
NM_001408513.1:c.578-1096C>T
NM_001408514.1:c.578-1096C>T
NM_007294.4:c.3403C>TMANE SELECT
NM_007297.4:c.3262C>T
NM_007298.4:c.788-1096C>T
NM_007299.4:c.788-1096C>T
NM_007300.4:c.3403C>T
NP_001394500.1:p.Gln1064Ter
NP_001394510.1:p.Gln1135Ter
NP_001394511.1:p.Gln1135Ter
NP_001394512.1:p.Gln1135Ter
NP_001394514.1:p.Gln1135Ter
NP_001394516.1:p.Gln1134Ter
NP_001394519.1:p.Gln1134Ter
NP_001394520.1:p.Gln1134Ter
NP_001394522.1:p.Gln1135Ter
NP_001394523.1:p.Gln1135Ter
NP_001394525.1:p.Gln1135Ter
NP_001394526.1:p.Gln1135Ter
NP_001394527.1:p.Gln1135Ter
NP_001394531.1:p.Gln1135Ter
NP_001394532.1:p.Gln1135Ter
NP_001394534.1:p.Gln1135Ter
NP_001394539.1:p.Gln1134Ter
NP_001394540.1:p.Gln1134Ter
NP_001394541.1:p.Gln1134Ter
NP_001394542.1:p.Gln1134Ter
NP_001394543.1:p.Gln1134Ter
NP_001394544.1:p.Gln1134Ter
NP_001394545.1:p.Gln1135Ter
NP_001394546.1:p.Gln1135Ter
NP_001394547.1:p.Gln1135Ter
NP_001394548.1:p.Gln1135Ter
NP_001394549.1:p.Gln1135Ter
NP_001394550.1:p.Gln1135Ter
NP_001394551.1:p.Gln1135Ter
NP_001394552.1:p.Gln1135Ter
NP_001394553.1:p.Gln1135Ter
NP_001394554.1:p.Gln1135Ter
NP_001394555.1:p.Gln1135Ter
NP_001394556.1:p.Gln1134Ter
NP_001394557.1:p.Gln1134Ter
NP_001394558.1:p.Gln1134Ter
NP_001394559.1:p.Gln1134Ter
NP_001394560.1:p.Gln1134Ter
NP_001394561.1:p.Gln1134Ter
NP_001394562.1:p.Gln1134Ter
NP_001394563.1:p.Gln1134Ter
NP_001394564.1:p.Gln1134Ter
NP_001394565.1:p.Gln1134Ter
NP_001394566.1:p.Gln1134Ter
NP_001394567.1:p.Gln1134Ter
NP_001394568.1:p.Gln1135Ter
NP_001394569.1:p.Gln1135Ter
NP_001394570.1:p.Gln1135Ter
NP_001394571.1:p.Gln1135Ter
NP_001394573.1:p.Gln1134Ter
NP_001394574.1:p.Gln1134Ter
NP_001394575.1:p.Gln1132Ter
NP_001394576.1:p.Gln1132Ter
NP_001394577.1:p.Gln1094Ter
NP_001394578.1:p.Gln1093Ter
NP_001394581.1:p.Gln1135Ter
NP_001394582.1:p.Gln1109Ter
NP_001394583.1:p.Gln1109Ter
NP_001394584.1:p.Gln1109Ter
NP_001394585.1:p.Gln1109Ter
NP_001394586.1:p.Gln1109Ter
NP_001394587.1:p.Gln1109Ter
NP_001394588.1:p.Gln1108Ter
NP_001394589.1:p.Gln1108Ter
NP_001394590.1:p.Gln1108Ter
NP_001394591.1:p.Gln1108Ter
NP_001394592.1:p.Gln1109Ter
NP_001394593.1:p.Gln1094Ter
NP_001394594.1:p.Gln1094Ter
NP_001394595.1:p.Gln1094Ter
NP_001394596.1:p.Gln1094Ter
NP_001394597.1:p.Gln1094Ter
NP_001394598.1:p.Gln1094Ter
NP_001394599.1:p.Gln1093Ter
NP_001394600.1:p.Gln1093Ter
NP_001394601.1:p.Gln1093Ter
NP_001394602.1:p.Gln1093Ter
NP_001394603.1:p.Gln1094Ter
NP_001394604.1:p.Gln1094Ter
NP_001394605.1:p.Gln1094Ter
NP_001394606.1:p.Gln1094Ter
NP_001394607.1:p.Gln1094Ter
NP_001394608.1:p.Gln1094Ter
NP_001394609.1:p.Gln1094Ter
NP_001394610.1:p.Gln1094Ter
NP_001394611.1:p.Gln1094Ter
NP_001394612.1:p.Gln1094Ter
NP_001394613.1:p.Gln1135Ter
NP_001394614.1:p.Gln1093Ter
NP_001394615.1:p.Gln1093Ter
NP_001394616.1:p.Gln1093Ter
NP_001394617.1:p.Gln1093Ter
NP_001394618.1:p.Gln1093Ter
NP_001394619.1:p.Gln1093Ter
NP_001394620.1:p.Gln1093Ter
NP_001394621.1:p.Gln1088Ter
NP_001394623.1:p.Gln1088Ter
NP_001394624.1:p.Gln1088Ter
NP_001394625.1:p.Gln1088Ter
NP_001394626.1:p.Gln1088Ter
NP_001394627.1:p.Gln1088Ter
NP_001394653.1:p.Gln1088Ter
NP_001394654.1:p.Gln1088Ter
NP_001394655.1:p.Gln1088Ter
NP_001394656.1:p.Gln1088Ter
NP_001394657.1:p.Gln1088Ter
NP_001394658.1:p.Gln1088Ter
NP_001394659.1:p.Gln1088Ter
NP_001394660.1:p.Gln1088Ter
NP_001394661.1:p.Gln1088Ter
NP_001394662.1:p.Gln1088Ter
NP_001394663.1:p.Gln1088Ter
NP_001394664.1:p.Gln1088Ter
NP_001394665.1:p.Gln1088Ter
NP_001394666.1:p.Gln1088Ter
NP_001394667.1:p.Gln1088Ter
NP_001394668.1:p.Gln1088Ter
NP_001394669.1:p.Gln1087Ter
NP_001394670.1:p.Gln1087Ter
NP_001394671.1:p.Gln1087Ter
NP_001394672.1:p.Gln1087Ter
NP_001394673.1:p.Gln1087Ter
NP_001394674.1:p.Gln1087Ter
NP_001394675.1:p.Gln1087Ter
NP_001394676.1:p.Gln1087Ter
NP_001394677.1:p.Gln1087Ter
NP_001394678.1:p.Gln1087Ter
NP_001394679.1:p.Gln1088Ter
NP_001394680.1:p.Gln1088Ter
NP_001394681.1:p.Gln1088Ter
NP_001394767.1:p.Gln1087Ter
NP_001394768.1:p.Gln1087Ter
NP_001394770.1:p.Gln1087Ter
NP_001394771.1:p.Gln1087Ter
NP_001394772.1:p.Gln1087Ter
NP_001394773.1:p.Gln1087Ter
NP_001394774.1:p.Gln1087Ter
NP_001394775.1:p.Gln1087Ter
NP_001394776.1:p.Gln1087Ter
NP_001394777.1:p.Gln1087Ter
NP_001394778.1:p.Gln1087Ter
NP_001394779.1:p.Gln1088Ter
NP_001394780.1:p.Gln1088Ter
NP_001394781.1:p.Gln1088Ter
NP_001394782.1:p.Gln1064Ter
NP_001394783.1:p.Gln1135Ter
NP_001394787.1:p.Gln1135Ter
NP_001394788.1:p.Gln1135Ter
NP_001394789.1:p.Gln1134Ter
NP_001394790.1:p.Gln1134Ter
NP_001394791.1:p.Gln1068Ter
NP_001394792.1:p.Gln1094Ter
NP_001394803.1:p.Gln1067Ter
NP_001394804.1:p.Gln1067Ter
NP_001394808.1:p.Gln1065Ter
NP_001394810.1:p.Gln1065Ter
NP_001394811.1:p.Gln1065Ter
NP_001394813.1:p.Gln1065Ter
NP_001394814.1:p.Gln1065Ter
NP_001394815.1:p.Gln1065Ter
NP_001394816.1:p.Gln1065Ter
NP_001394818.1:p.Gln1065Ter
NP_001394823.1:p.Gln1064Ter
NP_001394824.1:p.Gln1064Ter
NP_001394825.1:p.Gln1064Ter
NP_001394826.1:p.Gln1064Ter
NP_001394827.1:p.Gln1064Ter
NP_001394828.1:p.Gln1064Ter
NP_001394829.1:p.Gln1065Ter
NP_001394831.1:p.Gln1065Ter
NP_001394833.1:p.Gln1065Ter
NP_001394835.1:p.Gln1065Ter
NP_001394836.1:p.Gln1065Ter
NP_001394837.1:p.Gln1065Ter
NP_001394838.1:p.Gln1065Ter
NP_001394839.1:p.Gln1065Ter
NP_001394844.1:p.Gln1064Ter
NP_001394845.1:p.Gln1064Ter
NP_001394846.1:p.Gln1064Ter
NP_001394847.1:p.Gln1064Ter
NP_001394848.1:p.Gln1094Ter
NP_001394849.1:p.Gln1047Ter
NP_001394850.1:p.Gln1047Ter
NP_001394851.1:p.Gln1047Ter
NP_001394852.1:p.Gln1047Ter
NP_001394853.1:p.Gln1047Ter
NP_001394854.1:p.Gln1047Ter
NP_001394855.1:p.Gln1047Ter
NP_001394856.1:p.Gln1047Ter
NP_001394857.1:p.Gln1047Ter
NP_001394858.1:p.Gln1047Ter
NP_001394859.1:p.Gln1046Ter
NP_001394860.1:p.Gln1046Ter
NP_001394861.1:p.Gln1046Ter
NP_001394862.1:p.Gln1047Ter
NP_001394863.1:p.Gln1046Ter
NP_001394864.1:p.Gln1047Ter
NP_001394865.1:p.Gln1046Ter
NP_001394866.1:p.Gln1094Ter
NP_001394867.1:p.Gln1094Ter
NP_001394868.1:p.Gln1094Ter
NP_001394869.1:p.Gln1093Ter
NP_001394870.1:p.Gln1093Ter
NP_001394871.1:p.Gln1088Ter
NP_001394872.1:p.Gln1087Ter
NP_001394873.1:p.Gln1088Ter
NP_001394874.1:p.Gln1088Ter
NP_001394875.1:p.Gln1024Ter
NP_001394876.1:p.Gln1024Ter
NP_001394877.1:p.Gln1024Ter
NP_001394878.1:p.Gln1024Ter
NP_001394879.1:p.Gln1024Ter
NP_001394880.1:p.Gln1024Ter
NP_001394881.1:p.Gln1024Ter
NP_001394882.1:p.Gln1024Ter
NP_001394883.1:p.Gln1023Ter
NP_001394884.1:p.Gln1023Ter
NP_001394885.1:p.Gln1023Ter
NP_001394886.1:p.Gln1024Ter
NP_001394887.1:p.Gln1023Ter
NP_001394888.1:p.Gln1008Ter
NP_001394889.1:p.Gln1008Ter
NP_001394891.1:p.Gln1007Ter
NP_001394892.1:p.Gln1008Ter
NP_001394893.1:p.Gln1087Ter
NP_001394894.1:p.Gln967Ter
NP_001394895.1:p.Gln839Ter
NP_001394896.1:p.Gln839Ter
NP_001394897.1:p.Gln267Ter
NP_001394898.1:p.Gln267Ter
NP_009225.1:p.Gln1135Ter
NP_009225.1:p.Gln1135Ter
NP_009228.2:p.Gln1088Ter
NP_009231.2:p.Gln1135Ter
LRG_292t1:c.3403C>T
LRG_292:g.125856C>T
LRG_292p1:p.Gln1135Ter
NC_000017.10:g.41244145G>A
NM_007294.3:c.3403C>T
NR_027676.1:n.3539C>T
U14680.1:n.3522C>T

Nucleotide change:

3522C>T

Protein change:

Q1007*

Links:

dbSNP: rs80357136

NCBI 1000 Genomes Browser:

rs80357136

Molecular consequence:

NM_001407970.1:c.788-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1105C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1096C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.3190C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.3400C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.3400C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.3400C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.3400C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.3400C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.3400C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.3400C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.3400C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.3400C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.3400C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.3400C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.3400C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.3400C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.3400C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.3400C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.3400C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.3400C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.3400C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.3400C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.3400C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.3400C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.3400C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.3400C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.3394C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.3394C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.3280C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.3277C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.3325C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.3325C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.3325C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.3325C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.3325C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.3325C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.3322C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.3322C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.3322C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.3322C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.3325C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.3280C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.3280C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.3280C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.3280C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.3280C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.3280C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.3277C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.3277C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.3277C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.3277C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.3280C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.3280C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.3280C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.3280C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.3280C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.3280C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.3280C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.3280C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.3280C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.3280C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.3277C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.3277C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.3277C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.3277C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.3277C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.3277C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.3277C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.3259C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.3259C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.3259C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.3259C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.3259C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.3259C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.3259C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.3259C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.3259C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.3259C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.3259C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.3259C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.3259C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.3259C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.3259C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.3259C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.3259C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.3259C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.3259C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.3259C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.3259C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.3190C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.3400C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.3400C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.3202C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.3280C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.3199C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.3199C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.3193C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.3193C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.3193C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.3193C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.3193C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.3193C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.3193C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.3193C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.3190C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.3190C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.3190C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.3190C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.3190C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.3190C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.3193C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.3193C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.3193C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.3193C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.3193C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.3193C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.3193C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.3193C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.3190C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.3190C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.3190C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.3190C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.3280C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.3139C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.3139C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.3139C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.3139C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.3139C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.3139C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.3139C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.3139C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.3139C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.3139C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.3136C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.3136C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.3136C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.3139C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.3136C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.3139C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.3136C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.3280C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.3280C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.3280C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.3277C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.3277C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407942.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407943.1:c.3259C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407944.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407945.1:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.3070C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.3070C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.3070C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.3070C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.3070C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.3070C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.3070C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.3070C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.3067C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.3067C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.3067C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.3070C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.3067C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.3019C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.3022C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.3259C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.2899C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.2515C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.2515C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407968.1:c.799C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407969.1:c.799C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.3262C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.3403C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000587309	Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)	no assertion criteria provided	Pathogenic (Jan 31, 2014)	germline	research
SCV000918683	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Pathogenic (Feb 19, 2018)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 15781624, 21702907, 16267036, 21120943, 21895635, 11556835, 19377795 Citation Link,
SCV001592385	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 2, 2025)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 20104584, 16267036, 21120943, 21895635, 24448499, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000587309

Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)

no assertion criteria provided

Pathogenic
(Jan 31, 2014)

germline

research

SCV000918683

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

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Pathogenic
(Feb 19, 2018)

germline

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link,

SCV001592385

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 2, 2025)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Loss of the inactive X chromosome and replication of the active X in BRCA1-defective and wild-type breast cancer cells.

Sirchia SM, Ramoscelli L, Grati FR, Barbera F, Coradini D, Rossella F, Porta G, Lesma E, Ruggeri A, Radice P, Simoni G, Miozzo M.

Cancer Res. 2005 Mar 15;65(6):2139-46.

PubMed [citation]

PMID:: 15781624

A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

Hondow HL, Fox SB, Mitchell G, Scott RJ, Beshay V, Wong SQ; kConFab Investigators, Dobrovic A.

BMC Cancer. 2011 Jun 24;11:265. doi: 10.1186/1471-2407-11-265.

PubMed [citation]

PMID:: 21702907
PMCID:: PMC3146935

See all PubMed Citations (10)

Details of each submission

From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587309.1

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

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000918683.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

Description

Variant summary: BRCA1 c.3403C>T (p.Gln1135X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g., p.Ile1159fsX6 and p.Glu1161fsX3). The variant was absent in 245838 control chromosomes. The c.3403C>T variant has been reported in the literature in multiple individuals affected with Hereditary Breast and Ovarian Cancer. These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

#	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 Labcorp Genetics (formerly Invitae), Labcorp, SCV001592385.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

This sequence change creates a premature translational stop signal (p.Gln1135*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 16267036, 21120943, 21895635, 24448499). This variant is also known as 3522C>T. ClinVar contains an entry for this variant (Variation ID: 54868). 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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 12, 2025

ClinVar

Relating variation to medicine