- This record was updated by the submitter. Please see the current version.
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 starsno assertion criteria provided
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno 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
This HGVS expression did not pass validation- 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
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001551361 | Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)
| no assertion criteria provided | Pathogenic | unknown | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | unknown | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001551361.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not 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.
# | Sample | Method | Observation | |||||||
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Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Jun 17, 2024