NM_007294.4(BRCA1):c.3286C>T (p.Gln1096Ter) AND Breast-ovarian cancer, familial, susceptibility to, 1
- Germline classification:
- Pathogenic (5 submissions)
- Last evaluated:
- Sep 8, 2016
- Review status:
- 3 stars out of maximum of 4 starsreviewed by expert panel
- 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:
- RCV000112045.16
Allele description [Variation Report for NM_007294.4(BRCA1):c.3286C>T (p.Gln1096Ter)]
NM_007294.4(BRCA1):c.3286C>T (p.Gln1096Ter)
- Genes:
- BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene] - Variant type:
- single nucleotide variant
- Cytogenetic location:
- 17q21.31
- Genomic location:
- Preferred name:
- NM_007294.4(BRCA1):c.3286C>T (p.Gln1096Ter)
- HGVS:
- NC_000017.11:g.43092245G>A
- NG_005905.2:g.125739C>T
- NG_087068.1:g.1227G>A
- NM_001407571.1:c.3073C>T
- NM_001407581.1:c.3286C>T
- NM_001407582.1:c.3286C>T
- NM_001407583.1:c.3286C>T
- NM_001407585.1:c.3286C>T
- NM_001407587.1:c.3283C>T
- NM_001407590.1:c.3283C>T
- NM_001407591.1:c.3283C>T
- NM_001407593.1:c.3286C>T
- NM_001407594.1:c.3286C>T
- NM_001407596.1:c.3286C>T
- NM_001407597.1:c.3286C>T
- NM_001407598.1:c.3286C>T
- NM_001407602.1:c.3286C>T
- NM_001407603.1:c.3286C>T
- NM_001407605.1:c.3286C>T
- NM_001407610.1:c.3283C>T
- NM_001407611.1:c.3283C>T
- NM_001407612.1:c.3283C>T
- NM_001407613.1:c.3283C>T
- NM_001407614.1:c.3283C>T
- NM_001407615.1:c.3283C>T
- NM_001407616.1:c.3286C>T
- NM_001407617.1:c.3286C>T
- NM_001407618.1:c.3286C>T
- NM_001407619.1:c.3286C>T
- NM_001407620.1:c.3286C>T
- NM_001407621.1:c.3286C>T
- NM_001407622.1:c.3286C>T
- NM_001407623.1:c.3286C>T
- NM_001407624.1:c.3286C>T
- NM_001407625.1:c.3286C>T
- NM_001407626.1:c.3286C>T
- NM_001407627.1:c.3283C>T
- NM_001407628.1:c.3283C>T
- NM_001407629.1:c.3283C>T
- NM_001407630.1:c.3283C>T
- NM_001407631.1:c.3283C>T
- NM_001407632.1:c.3283C>T
- NM_001407633.1:c.3283C>T
- NM_001407634.1:c.3283C>T
- NM_001407635.1:c.3283C>T
- NM_001407636.1:c.3283C>T
- NM_001407637.1:c.3283C>T
- NM_001407638.1:c.3283C>T
- NM_001407639.1:c.3286C>T
- NM_001407640.1:c.3286C>T
- NM_001407641.1:c.3286C>T
- NM_001407642.1:c.3286C>T
- NM_001407644.1:c.3283C>T
- NM_001407645.1:c.3283C>T
- NM_001407646.1:c.3277C>T
- NM_001407647.1:c.3277C>T
- NM_001407648.1:c.3163C>T
- NM_001407649.1:c.3160C>T
- NM_001407652.1:c.3286C>T
- NM_001407653.1:c.3208C>T
- NM_001407654.1:c.3208C>T
- NM_001407655.1:c.3208C>T
- NM_001407656.1:c.3208C>T
- NM_001407657.1:c.3208C>T
- NM_001407658.1:c.3208C>T
- NM_001407659.1:c.3205C>T
- NM_001407660.1:c.3205C>T
- NM_001407661.1:c.3205C>T
- NM_001407662.1:c.3205C>T
- NM_001407663.1:c.3208C>T
- NM_001407664.1:c.3163C>T
- NM_001407665.1:c.3163C>T
- NM_001407666.1:c.3163C>T
- NM_001407667.1:c.3163C>T
- NM_001407668.1:c.3163C>T
- NM_001407669.1:c.3163C>T
- NM_001407670.1:c.3160C>T
- NM_001407671.1:c.3160C>T
- NM_001407672.1:c.3160C>T
- NM_001407673.1:c.3160C>T
- NM_001407674.1:c.3163C>T
- NM_001407675.1:c.3163C>T
- NM_001407676.1:c.3163C>T
- NM_001407677.1:c.3163C>T
- NM_001407678.1:c.3163C>T
- NM_001407679.1:c.3163C>T
- NM_001407680.1:c.3163C>T
- NM_001407681.1:c.3163C>T
- NM_001407682.1:c.3163C>T
- NM_001407683.1:c.3163C>T
- NM_001407684.1:c.3286C>T
- NM_001407685.1:c.3160C>T
- NM_001407686.1:c.3160C>T
- NM_001407687.1:c.3160C>T
- NM_001407688.1:c.3160C>T
- NM_001407689.1:c.3160C>T
- NM_001407690.1:c.3160C>T
- NM_001407691.1:c.3160C>T
- NM_001407692.1:c.3145C>T
- NM_001407694.1:c.3145C>T
- NM_001407695.1:c.3145C>T
- NM_001407696.1:c.3145C>T
- NM_001407697.1:c.3145C>T
- NM_001407698.1:c.3145C>T
- NM_001407724.1:c.3145C>T
- NM_001407725.1:c.3145C>T
- NM_001407726.1:c.3145C>T
- NM_001407727.1:c.3145C>T
- NM_001407728.1:c.3145C>T
- NM_001407729.1:c.3145C>T
- NM_001407730.1:c.3145C>T
- NM_001407731.1:c.3145C>T
- NM_001407732.1:c.3145C>T
- NM_001407733.1:c.3145C>T
- NM_001407734.1:c.3145C>T
- NM_001407735.1:c.3145C>T
- NM_001407736.1:c.3145C>T
- NM_001407737.1:c.3145C>T
- NM_001407738.1:c.3145C>T
- NM_001407739.1:c.3145C>T
- NM_001407740.1:c.3142C>T
- NM_001407741.1:c.3142C>T
- NM_001407742.1:c.3142C>T
- NM_001407743.1:c.3142C>T
- NM_001407744.1:c.3142C>T
- NM_001407745.1:c.3142C>T
- NM_001407746.1:c.3142C>T
- NM_001407747.1:c.3142C>T
- NM_001407748.1:c.3142C>T
- NM_001407749.1:c.3142C>T
- NM_001407750.1:c.3145C>T
- NM_001407751.1:c.3145C>T
- NM_001407752.1:c.3145C>T
- NM_001407838.1:c.3142C>T
- NM_001407839.1:c.3142C>T
- NM_001407841.1:c.3142C>T
- NM_001407842.1:c.3142C>T
- NM_001407843.1:c.3142C>T
- NM_001407844.1:c.3142C>T
- NM_001407845.1:c.3142C>T
- NM_001407846.1:c.3142C>T
- NM_001407847.1:c.3142C>T
- NM_001407848.1:c.3142C>T
- NM_001407849.1:c.3142C>T
- NM_001407850.1:c.3145C>T
- NM_001407851.1:c.3145C>T
- NM_001407852.1:c.3145C>T
- NM_001407853.1:c.3073C>T
- NM_001407854.1:c.3286C>T
- NM_001407858.1:c.3286C>T
- NM_001407859.1:c.3286C>T
- NM_001407860.1:c.3283C>T
- NM_001407861.1:c.3283C>T
- NM_001407862.1:c.3085C>T
- NM_001407863.1:c.3163C>T
- NM_001407874.1:c.3082C>T
- NM_001407875.1:c.3082C>T
- NM_001407879.1:c.3076C>T
- NM_001407881.1:c.3076C>T
- NM_001407882.1:c.3076C>T
- NM_001407884.1:c.3076C>T
- NM_001407885.1:c.3076C>T
- NM_001407886.1:c.3076C>T
- NM_001407887.1:c.3076C>T
- NM_001407889.1:c.3076C>T
- NM_001407894.1:c.3073C>T
- NM_001407895.1:c.3073C>T
- NM_001407896.1:c.3073C>T
- NM_001407897.1:c.3073C>T
- NM_001407898.1:c.3073C>T
- NM_001407899.1:c.3073C>T
- NM_001407900.1:c.3076C>T
- NM_001407902.1:c.3076C>T
- NM_001407904.1:c.3076C>T
- NM_001407906.1:c.3076C>T
- NM_001407907.1:c.3076C>T
- NM_001407908.1:c.3076C>T
- NM_001407909.1:c.3076C>T
- NM_001407910.1:c.3076C>T
- NM_001407915.1:c.3073C>T
- NM_001407916.1:c.3073C>T
- NM_001407917.1:c.3073C>T
- NM_001407918.1:c.3073C>T
- NM_001407919.1:c.3163C>T
- NM_001407920.1:c.3022C>T
- NM_001407921.1:c.3022C>T
- NM_001407922.1:c.3022C>T
- NM_001407923.1:c.3022C>T
- NM_001407924.1:c.3022C>T
- NM_001407925.1:c.3022C>T
- NM_001407926.1:c.3022C>T
- NM_001407927.1:c.3022C>T
- NM_001407928.1:c.3022C>T
- NM_001407929.1:c.3022C>T
- NM_001407930.1:c.3019C>T
- NM_001407931.1:c.3019C>T
- NM_001407932.1:c.3019C>T
- NM_001407933.1:c.3022C>T
- NM_001407934.1:c.3019C>T
- NM_001407935.1:c.3022C>T
- NM_001407936.1:c.3019C>T
- NM_001407937.1:c.3163C>T
- NM_001407938.1:c.3163C>T
- NM_001407939.1:c.3163C>T
- NM_001407940.1:c.3160C>T
- NM_001407941.1:c.3160C>T
- NM_001407942.1:c.3145C>T
- NM_001407943.1:c.3142C>T
- NM_001407944.1:c.3145C>T
- NM_001407945.1:c.3145C>T
- NM_001407946.1:c.2953C>T
- NM_001407947.1:c.2953C>T
- NM_001407948.1:c.2953C>T
- NM_001407949.1:c.2953C>T
- NM_001407950.1:c.2953C>T
- NM_001407951.1:c.2953C>T
- NM_001407952.1:c.2953C>T
- NM_001407953.1:c.2953C>T
- NM_001407954.1:c.2950C>T
- NM_001407955.1:c.2950C>T
- NM_001407956.1:c.2950C>T
- NM_001407957.1:c.2953C>T
- NM_001407958.1:c.2950C>T
- NM_001407959.1:c.2905C>T
- NM_001407960.1:c.2905C>T
- NM_001407962.1:c.2902C>T
- NM_001407963.1:c.2905C>T
- NM_001407964.1:c.3142C>T
- NM_001407965.1:c.2782C>T
- NM_001407966.1:c.2398C>T
- NM_001407967.1:c.2398C>T
- NM_001407968.1:c.788-106C>T
- NM_001407969.1:c.788-106C>T
- NM_001407970.1:c.788-1213C>T
- NM_001407971.1:c.788-1213C>T
- NM_001407972.1:c.785-1213C>T
- NM_001407973.1:c.788-1213C>T
- NM_001407974.1:c.788-1213C>T
- NM_001407975.1:c.788-1213C>T
- NM_001407976.1:c.788-1213C>T
- NM_001407977.1:c.788-1213C>T
- NM_001407978.1:c.788-1213C>T
- NM_001407979.1:c.788-1213C>T
- NM_001407980.1:c.788-1213C>T
- NM_001407981.1:c.788-1213C>T
- NM_001407982.1:c.788-1213C>T
- NM_001407983.1:c.788-1213C>T
- NM_001407984.1:c.785-1213C>T
- NM_001407985.1:c.785-1213C>T
- NM_001407986.1:c.785-1213C>T
- NM_001407990.1:c.788-1213C>T
- NM_001407991.1:c.785-1213C>T
- NM_001407992.1:c.785-1213C>T
- NM_001407993.1:c.788-1213C>T
- NM_001408392.1:c.785-1213C>T
- NM_001408396.1:c.785-1213C>T
- NM_001408397.1:c.785-1213C>T
- NM_001408398.1:c.785-1213C>T
- NM_001408399.1:c.785-1213C>T
- NM_001408400.1:c.785-1213C>T
- NM_001408401.1:c.785-1213C>T
- NM_001408402.1:c.785-1213C>T
- NM_001408403.1:c.788-1213C>T
- NM_001408404.1:c.788-1213C>T
- NM_001408406.1:c.791-1222C>T
- NM_001408407.1:c.785-1213C>T
- NM_001408408.1:c.779-1213C>T
- NM_001408409.1:c.710-1213C>T
- NM_001408410.1:c.647-1213C>T
- NM_001408411.1:c.710-1213C>T
- NM_001408412.1:c.710-1213C>T
- NM_001408413.1:c.707-1213C>T
- NM_001408414.1:c.710-1213C>T
- NM_001408415.1:c.710-1213C>T
- NM_001408416.1:c.707-1213C>T
- NM_001408418.1:c.671-1213C>T
- NM_001408419.1:c.671-1213C>T
- NM_001408420.1:c.671-1213C>T
- NM_001408421.1:c.668-1213C>T
- NM_001408422.1:c.671-1213C>T
- NM_001408423.1:c.671-1213C>T
- NM_001408424.1:c.668-1213C>T
- NM_001408425.1:c.665-1213C>T
- NM_001408426.1:c.665-1213C>T
- NM_001408427.1:c.665-1213C>T
- NM_001408428.1:c.665-1213C>T
- NM_001408429.1:c.665-1213C>T
- NM_001408430.1:c.665-1213C>T
- NM_001408431.1:c.668-1213C>T
- NM_001408432.1:c.662-1213C>T
- NM_001408433.1:c.662-1213C>T
- NM_001408434.1:c.662-1213C>T
- NM_001408435.1:c.662-1213C>T
- NM_001408436.1:c.665-1213C>T
- NM_001408437.1:c.665-1213C>T
- NM_001408438.1:c.665-1213C>T
- NM_001408439.1:c.665-1213C>T
- NM_001408440.1:c.665-1213C>T
- NM_001408441.1:c.665-1213C>T
- NM_001408442.1:c.665-1213C>T
- NM_001408443.1:c.665-1213C>T
- NM_001408444.1:c.665-1213C>T
- NM_001408445.1:c.662-1213C>T
- NM_001408446.1:c.662-1213C>T
- NM_001408447.1:c.662-1213C>T
- NM_001408448.1:c.662-1213C>T
- NM_001408450.1:c.662-1213C>T
- NM_001408451.1:c.653-1213C>T
- NM_001408452.1:c.647-1213C>T
- NM_001408453.1:c.647-1213C>T
- NM_001408454.1:c.647-1213C>T
- NM_001408455.1:c.647-1213C>T
- NM_001408456.1:c.647-1213C>T
- NM_001408457.1:c.647-1213C>T
- NM_001408458.1:c.647-1213C>T
- NM_001408459.1:c.647-1213C>T
- NM_001408460.1:c.647-1213C>T
- NM_001408461.1:c.647-1213C>T
- NM_001408462.1:c.644-1213C>T
- NM_001408463.1:c.644-1213C>T
- NM_001408464.1:c.644-1213C>T
- NM_001408465.1:c.644-1213C>T
- NM_001408466.1:c.647-1213C>T
- NM_001408467.1:c.647-1213C>T
- NM_001408468.1:c.644-1213C>T
- NM_001408469.1:c.647-1213C>T
- NM_001408470.1:c.644-1213C>T
- NM_001408472.1:c.788-1213C>T
- NM_001408473.1:c.785-1213C>T
- NM_001408474.1:c.587-1213C>T
- NM_001408475.1:c.584-1213C>T
- NM_001408476.1:c.587-1213C>T
- NM_001408478.1:c.578-1213C>T
- NM_001408479.1:c.578-1213C>T
- NM_001408480.1:c.578-1213C>T
- NM_001408481.1:c.578-1213C>T
- NM_001408482.1:c.578-1213C>T
- NM_001408483.1:c.578-1213C>T
- NM_001408484.1:c.578-1213C>T
- NM_001408485.1:c.578-1213C>T
- NM_001408489.1:c.578-1213C>T
- NM_001408490.1:c.575-1213C>T
- NM_001408491.1:c.575-1213C>T
- NM_001408492.1:c.578-1213C>T
- NM_001408493.1:c.575-1213C>T
- NM_001408494.1:c.548-1213C>T
- NM_001408495.1:c.545-1213C>T
- NM_001408496.1:c.524-1213C>T
- NM_001408497.1:c.524-1213C>T
- NM_001408498.1:c.524-1213C>T
- NM_001408499.1:c.524-1213C>T
- NM_001408500.1:c.524-1213C>T
- NM_001408501.1:c.524-1213C>T
- NM_001408502.1:c.455-1213C>T
- NM_001408503.1:c.521-1213C>T
- NM_001408504.1:c.521-1213C>T
- NM_001408505.1:c.521-1213C>T
- NM_001408506.1:c.461-1213C>T
- NM_001408507.1:c.461-1213C>T
- NM_001408508.1:c.452-1213C>T
- NM_001408509.1:c.452-1213C>T
- NM_001408510.1:c.407-1213C>T
- NM_001408511.1:c.404-1213C>T
- NM_001408512.1:c.284-1213C>T
- NM_001408513.1:c.578-1213C>T
- NM_001408514.1:c.578-1213C>T
- NM_007294.4:c.3286C>TMANE SELECT
- NM_007297.4:c.3145C>T
- NM_007298.4:c.788-1213C>T
- NM_007299.4:c.788-1213C>T
- NM_007300.4:c.3286C>T
- NP_001394500.1:p.Gln1025Ter
- NP_001394510.1:p.Gln1096Ter
- NP_001394511.1:p.Gln1096Ter
- NP_001394512.1:p.Gln1096Ter
- NP_001394514.1:p.Gln1096Ter
- NP_001394516.1:p.Gln1095Ter
- NP_001394519.1:p.Gln1095Ter
- NP_001394520.1:p.Gln1095Ter
- NP_001394522.1:p.Gln1096Ter
- NP_001394523.1:p.Gln1096Ter
- NP_001394525.1:p.Gln1096Ter
- NP_001394526.1:p.Gln1096Ter
- NP_001394527.1:p.Gln1096Ter
- NP_001394531.1:p.Gln1096Ter
- NP_001394532.1:p.Gln1096Ter
- NP_001394534.1:p.Gln1096Ter
- NP_001394539.1:p.Gln1095Ter
- NP_001394540.1:p.Gln1095Ter
- NP_001394541.1:p.Gln1095Ter
- NP_001394542.1:p.Gln1095Ter
- NP_001394543.1:p.Gln1095Ter
- NP_001394544.1:p.Gln1095Ter
- NP_001394545.1:p.Gln1096Ter
- NP_001394546.1:p.Gln1096Ter
- NP_001394547.1:p.Gln1096Ter
- NP_001394548.1:p.Gln1096Ter
- NP_001394549.1:p.Gln1096Ter
- NP_001394550.1:p.Gln1096Ter
- NP_001394551.1:p.Gln1096Ter
- NP_001394552.1:p.Gln1096Ter
- NP_001394553.1:p.Gln1096Ter
- NP_001394554.1:p.Gln1096Ter
- NP_001394555.1:p.Gln1096Ter
- NP_001394556.1:p.Gln1095Ter
- NP_001394557.1:p.Gln1095Ter
- NP_001394558.1:p.Gln1095Ter
- NP_001394559.1:p.Gln1095Ter
- NP_001394560.1:p.Gln1095Ter
- NP_001394561.1:p.Gln1095Ter
- NP_001394562.1:p.Gln1095Ter
- NP_001394563.1:p.Gln1095Ter
- NP_001394564.1:p.Gln1095Ter
- NP_001394565.1:p.Gln1095Ter
- NP_001394566.1:p.Gln1095Ter
- NP_001394567.1:p.Gln1095Ter
- NP_001394568.1:p.Gln1096Ter
- NP_001394569.1:p.Gln1096Ter
- NP_001394570.1:p.Gln1096Ter
- NP_001394571.1:p.Gln1096Ter
- NP_001394573.1:p.Gln1095Ter
- NP_001394574.1:p.Gln1095Ter
- NP_001394575.1:p.Gln1093Ter
- NP_001394576.1:p.Gln1093Ter
- NP_001394577.1:p.Gln1055Ter
- NP_001394578.1:p.Gln1054Ter
- NP_001394581.1:p.Gln1096Ter
- NP_001394582.1:p.Gln1070Ter
- NP_001394583.1:p.Gln1070Ter
- NP_001394584.1:p.Gln1070Ter
- NP_001394585.1:p.Gln1070Ter
- NP_001394586.1:p.Gln1070Ter
- NP_001394587.1:p.Gln1070Ter
- NP_001394588.1:p.Gln1069Ter
- NP_001394589.1:p.Gln1069Ter
- NP_001394590.1:p.Gln1069Ter
- NP_001394591.1:p.Gln1069Ter
- NP_001394592.1:p.Gln1070Ter
- NP_001394593.1:p.Gln1055Ter
- NP_001394594.1:p.Gln1055Ter
- NP_001394595.1:p.Gln1055Ter
- NP_001394596.1:p.Gln1055Ter
- NP_001394597.1:p.Gln1055Ter
- NP_001394598.1:p.Gln1055Ter
- NP_001394599.1:p.Gln1054Ter
- NP_001394600.1:p.Gln1054Ter
- NP_001394601.1:p.Gln1054Ter
- NP_001394602.1:p.Gln1054Ter
- NP_001394603.1:p.Gln1055Ter
- NP_001394604.1:p.Gln1055Ter
- NP_001394605.1:p.Gln1055Ter
- NP_001394606.1:p.Gln1055Ter
- NP_001394607.1:p.Gln1055Ter
- NP_001394608.1:p.Gln1055Ter
- NP_001394609.1:p.Gln1055Ter
- NP_001394610.1:p.Gln1055Ter
- NP_001394611.1:p.Gln1055Ter
- NP_001394612.1:p.Gln1055Ter
- NP_001394613.1:p.Gln1096Ter
- NP_001394614.1:p.Gln1054Ter
- NP_001394615.1:p.Gln1054Ter
- NP_001394616.1:p.Gln1054Ter
- NP_001394617.1:p.Gln1054Ter
- NP_001394618.1:p.Gln1054Ter
- NP_001394619.1:p.Gln1054Ter
- NP_001394620.1:p.Gln1054Ter
- NP_001394621.1:p.Gln1049Ter
- NP_001394623.1:p.Gln1049Ter
- NP_001394624.1:p.Gln1049Ter
- NP_001394625.1:p.Gln1049Ter
- NP_001394626.1:p.Gln1049Ter
- NP_001394627.1:p.Gln1049Ter
- NP_001394653.1:p.Gln1049Ter
- NP_001394654.1:p.Gln1049Ter
- NP_001394655.1:p.Gln1049Ter
- NP_001394656.1:p.Gln1049Ter
- NP_001394657.1:p.Gln1049Ter
- NP_001394658.1:p.Gln1049Ter
- NP_001394659.1:p.Gln1049Ter
- NP_001394660.1:p.Gln1049Ter
- NP_001394661.1:p.Gln1049Ter
- NP_001394662.1:p.Gln1049Ter
- NP_001394663.1:p.Gln1049Ter
- NP_001394664.1:p.Gln1049Ter
- NP_001394665.1:p.Gln1049Ter
- NP_001394666.1:p.Gln1049Ter
- NP_001394667.1:p.Gln1049Ter
- NP_001394668.1:p.Gln1049Ter
- NP_001394669.1:p.Gln1048Ter
- NP_001394670.1:p.Gln1048Ter
- NP_001394671.1:p.Gln1048Ter
- NP_001394672.1:p.Gln1048Ter
- NP_001394673.1:p.Gln1048Ter
- NP_001394674.1:p.Gln1048Ter
- NP_001394675.1:p.Gln1048Ter
- NP_001394676.1:p.Gln1048Ter
- NP_001394677.1:p.Gln1048Ter
- NP_001394678.1:p.Gln1048Ter
- NP_001394679.1:p.Gln1049Ter
- NP_001394680.1:p.Gln1049Ter
- NP_001394681.1:p.Gln1049Ter
- NP_001394767.1:p.Gln1048Ter
- NP_001394768.1:p.Gln1048Ter
- NP_001394770.1:p.Gln1048Ter
- NP_001394771.1:p.Gln1048Ter
- NP_001394772.1:p.Gln1048Ter
- NP_001394773.1:p.Gln1048Ter
- NP_001394774.1:p.Gln1048Ter
- NP_001394775.1:p.Gln1048Ter
- NP_001394776.1:p.Gln1048Ter
- NP_001394777.1:p.Gln1048Ter
- NP_001394778.1:p.Gln1048Ter
- NP_001394779.1:p.Gln1049Ter
- NP_001394780.1:p.Gln1049Ter
- NP_001394781.1:p.Gln1049Ter
- NP_001394782.1:p.Gln1025Ter
- NP_001394783.1:p.Gln1096Ter
- NP_001394787.1:p.Gln1096Ter
- NP_001394788.1:p.Gln1096Ter
- NP_001394789.1:p.Gln1095Ter
- NP_001394790.1:p.Gln1095Ter
- NP_001394791.1:p.Gln1029Ter
- NP_001394792.1:p.Gln1055Ter
- NP_001394803.1:p.Gln1028Ter
- NP_001394804.1:p.Gln1028Ter
- NP_001394808.1:p.Gln1026Ter
- NP_001394810.1:p.Gln1026Ter
- NP_001394811.1:p.Gln1026Ter
- NP_001394813.1:p.Gln1026Ter
- NP_001394814.1:p.Gln1026Ter
- NP_001394815.1:p.Gln1026Ter
- NP_001394816.1:p.Gln1026Ter
- NP_001394818.1:p.Gln1026Ter
- NP_001394823.1:p.Gln1025Ter
- NP_001394824.1:p.Gln1025Ter
- NP_001394825.1:p.Gln1025Ter
- NP_001394826.1:p.Gln1025Ter
- NP_001394827.1:p.Gln1025Ter
- NP_001394828.1:p.Gln1025Ter
- NP_001394829.1:p.Gln1026Ter
- NP_001394831.1:p.Gln1026Ter
- NP_001394833.1:p.Gln1026Ter
- NP_001394835.1:p.Gln1026Ter
- NP_001394836.1:p.Gln1026Ter
- NP_001394837.1:p.Gln1026Ter
- NP_001394838.1:p.Gln1026Ter
- NP_001394839.1:p.Gln1026Ter
- NP_001394844.1:p.Gln1025Ter
- NP_001394845.1:p.Gln1025Ter
- NP_001394846.1:p.Gln1025Ter
- NP_001394847.1:p.Gln1025Ter
- NP_001394848.1:p.Gln1055Ter
- NP_001394849.1:p.Gln1008Ter
- NP_001394850.1:p.Gln1008Ter
- NP_001394851.1:p.Gln1008Ter
- NP_001394852.1:p.Gln1008Ter
- NP_001394853.1:p.Gln1008Ter
- NP_001394854.1:p.Gln1008Ter
- NP_001394855.1:p.Gln1008Ter
- NP_001394856.1:p.Gln1008Ter
- NP_001394857.1:p.Gln1008Ter
- NP_001394858.1:p.Gln1008Ter
- NP_001394859.1:p.Gln1007Ter
- NP_001394860.1:p.Gln1007Ter
- NP_001394861.1:p.Gln1007Ter
- NP_001394862.1:p.Gln1008Ter
- NP_001394863.1:p.Gln1007Ter
- NP_001394864.1:p.Gln1008Ter
- NP_001394865.1:p.Gln1007Ter
- NP_001394866.1:p.Gln1055Ter
- NP_001394867.1:p.Gln1055Ter
- NP_001394868.1:p.Gln1055Ter
- NP_001394869.1:p.Gln1054Ter
- NP_001394870.1:p.Gln1054Ter
- NP_001394871.1:p.Gln1049Ter
- NP_001394872.1:p.Gln1048Ter
- NP_001394873.1:p.Gln1049Ter
- NP_001394874.1:p.Gln1049Ter
- NP_001394875.1:p.Gln985Ter
- NP_001394876.1:p.Gln985Ter
- NP_001394877.1:p.Gln985Ter
- NP_001394878.1:p.Gln985Ter
- NP_001394879.1:p.Gln985Ter
- NP_001394880.1:p.Gln985Ter
- NP_001394881.1:p.Gln985Ter
- NP_001394882.1:p.Gln985Ter
- NP_001394883.1:p.Gln984Ter
- NP_001394884.1:p.Gln984Ter
- NP_001394885.1:p.Gln984Ter
- NP_001394886.1:p.Gln985Ter
- NP_001394887.1:p.Gln984Ter
- NP_001394888.1:p.Gln969Ter
- NP_001394889.1:p.Gln969Ter
- NP_001394891.1:p.Gln968Ter
- NP_001394892.1:p.Gln969Ter
- NP_001394893.1:p.Gln1048Ter
- NP_001394894.1:p.Gln928Ter
- NP_001394895.1:p.Gln800Ter
- NP_001394896.1:p.Gln800Ter
- NP_009225.1:p.Gln1096Ter
- NP_009225.1:p.Gln1096Ter
- NP_009228.2:p.Gln1049Ter
- NP_009231.2:p.Gln1096Ter
- LRG_292t1:c.3286C>T
- LRG_292:g.125739C>T
- LRG_292p1:p.Gln1096Ter
- NC_000017.10:g.41244262G>A
- NM_007294.3:c.3286C>T
- NM_007300.3:c.3286C>T
- NR_027676.1:n.3422C>T
- U14680.1:n.3405C>T
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]
- Observations:
- 2
Condition(s)
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000144698 | Breast Cancer Information Core (BIC) (BRCA1) | no assertion criteria provided | Pathogenic (May 29, 2002) | germline | clinical testing | |
SCV000299908 | Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) | reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015)) | Pathogenic (Sep 8, 2016) | germline | curation | ENIGMA BRCA1/2 Classification Criteria (2015), |
SCV000325599 | Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge | criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016) | Pathogenic (Oct 2, 2015) | germline | clinical testing | CIMBA_Mutation_Classification_guidelines_May16.pdf, |
SCV002580349 | MGZ Medical Genetics Center | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Oct 1, 2021) | germline | clinical testing | |
SCV003927172 | KCCC/NGS Laboratory, Kuwait Cancer Control Center | no assertion criteria provided | Pathogenic (May 5, 2023) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | yes | 1 | not provided | not provided | not provided | not provided | clinical testing |
not provided | germline | unknown | not provided | 2 | not provided | not provided | not provided | clinical testing, curation |
Pakistani | germline | yes | 1 | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
- PMID:
- 25741868
- PMCID:
- PMC4544753
Borg A, Haile RW, Malone KE, Capanu M, Diep A, Törngren T, Teraoka S, Begg CB, Thomas DC, Concannon P, Mellemkjaer L, Bernstein L, Tellhed L, Xue S, Olson ER, Liang X, Dolle J, Børresen-Dale AL, Bernstein JL.
Hum Mutat. 2010 Mar;31(3):E1200-40. doi: 10.1002/humu.21202.
- PMID:
- 20104584
- PMCID:
- PMC2928257
Details of each submission
From Breast Cancer Information Core (BIC) (BRCA1), SCV000144698.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | Pakistani | 1 | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | 1 | not provided | not provided | not provided |
From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000299908.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | curation | not provided |
Description
Variant allele predicted to encode a truncated non-functional protein.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325599.4
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | 2 | not provided |
From MGZ Medical Genetics Center, SCV002580349.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | 1 | not provided | not provided | not provided |
From KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV003927172.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
A known pathogenic mutation was detected in the BRCA1 gene (c.3286C>T). This sequence change creates a premature translational stop signal (p.Gln1096*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in gnomAD genomes. This variant has been reported in individuals affected with breast and ovarian cancer (PMID: 15617999, 25682074, 27157322). In-silico predictions show pathogenic computational verdict based on 5 pathogenic predictions from BayesDel_addAF, DANN, EIGEN, FATHMM-MKL and MutationTaster vs no benign predictions.This variant is also known as c.3405C>T in the literature. ClinVar contains an entry for this variant (Variation ID: 54818) with 8 submissions all of which describe it as pathogenic, 3 stars, reviewed by expert panel. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Oct 26, 2024