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NM_007294.4(BRCA1):c.3282T>G (p.Tyr1094Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003278727.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.3282T>G (p.Tyr1094Ter)]

NM_007294.4(BRCA1):c.3282T>G (p.Tyr1094Ter)

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.3282T>G (p.Tyr1094Ter)
Other names:
3401T>G
HGVS:
  • NC_000017.11:g.43092249A>C
  • NG_005905.2:g.125735T>G
  • NG_087068.1:g.1231A>C
  • NM_001407571.1:c.3069T>G
  • NM_001407581.1:c.3282T>G
  • NM_001407582.1:c.3282T>G
  • NM_001407583.1:c.3282T>G
  • NM_001407585.1:c.3282T>G
  • NM_001407587.1:c.3279T>G
  • NM_001407590.1:c.3279T>G
  • NM_001407591.1:c.3279T>G
  • NM_001407593.1:c.3282T>G
  • NM_001407594.1:c.3282T>G
  • NM_001407596.1:c.3282T>G
  • NM_001407597.1:c.3282T>G
  • NM_001407598.1:c.3282T>G
  • NM_001407602.1:c.3282T>G
  • NM_001407603.1:c.3282T>G
  • NM_001407605.1:c.3282T>G
  • NM_001407610.1:c.3279T>G
  • NM_001407611.1:c.3279T>G
  • NM_001407612.1:c.3279T>G
  • NM_001407613.1:c.3279T>G
  • NM_001407614.1:c.3279T>G
  • NM_001407615.1:c.3279T>G
  • NM_001407616.1:c.3282T>G
  • NM_001407617.1:c.3282T>G
  • NM_001407618.1:c.3282T>G
  • NM_001407619.1:c.3282T>G
  • NM_001407620.1:c.3282T>G
  • NM_001407621.1:c.3282T>G
  • NM_001407622.1:c.3282T>G
  • NM_001407623.1:c.3282T>G
  • NM_001407624.1:c.3282T>G
  • NM_001407625.1:c.3282T>G
  • NM_001407626.1:c.3282T>G
  • NM_001407627.1:c.3279T>G
  • NM_001407628.1:c.3279T>G
  • NM_001407629.1:c.3279T>G
  • NM_001407630.1:c.3279T>G
  • NM_001407631.1:c.3279T>G
  • NM_001407632.1:c.3279T>G
  • NM_001407633.1:c.3279T>G
  • NM_001407634.1:c.3279T>G
  • NM_001407635.1:c.3279T>G
  • NM_001407636.1:c.3279T>G
  • NM_001407637.1:c.3279T>G
  • NM_001407638.1:c.3279T>G
  • NM_001407639.1:c.3282T>G
  • NM_001407640.1:c.3282T>G
  • NM_001407641.1:c.3282T>G
  • NM_001407642.1:c.3282T>G
  • NM_001407644.1:c.3279T>G
  • NM_001407645.1:c.3279T>G
  • NM_001407646.1:c.3273T>G
  • NM_001407647.1:c.3273T>G
  • NM_001407648.1:c.3159T>G
  • NM_001407649.1:c.3156T>G
  • NM_001407652.1:c.3282T>G
  • NM_001407653.1:c.3204T>G
  • NM_001407654.1:c.3204T>G
  • NM_001407655.1:c.3204T>G
  • NM_001407656.1:c.3204T>G
  • NM_001407657.1:c.3204T>G
  • NM_001407658.1:c.3204T>G
  • NM_001407659.1:c.3201T>G
  • NM_001407660.1:c.3201T>G
  • NM_001407661.1:c.3201T>G
  • NM_001407662.1:c.3201T>G
  • NM_001407663.1:c.3204T>G
  • NM_001407664.1:c.3159T>G
  • NM_001407665.1:c.3159T>G
  • NM_001407666.1:c.3159T>G
  • NM_001407667.1:c.3159T>G
  • NM_001407668.1:c.3159T>G
  • NM_001407669.1:c.3159T>G
  • NM_001407670.1:c.3156T>G
  • NM_001407671.1:c.3156T>G
  • NM_001407672.1:c.3156T>G
  • NM_001407673.1:c.3156T>G
  • NM_001407674.1:c.3159T>G
  • NM_001407675.1:c.3159T>G
  • NM_001407676.1:c.3159T>G
  • NM_001407677.1:c.3159T>G
  • NM_001407678.1:c.3159T>G
  • NM_001407679.1:c.3159T>G
  • NM_001407680.1:c.3159T>G
  • NM_001407681.1:c.3159T>G
  • NM_001407682.1:c.3159T>G
  • NM_001407683.1:c.3159T>G
  • NM_001407684.1:c.3282T>G
  • NM_001407685.1:c.3156T>G
  • NM_001407686.1:c.3156T>G
  • NM_001407687.1:c.3156T>G
  • NM_001407688.1:c.3156T>G
  • NM_001407689.1:c.3156T>G
  • NM_001407690.1:c.3156T>G
  • NM_001407691.1:c.3156T>G
  • NM_001407692.1:c.3141T>G
  • NM_001407694.1:c.3141T>G
  • NM_001407695.1:c.3141T>G
  • NM_001407696.1:c.3141T>G
  • NM_001407697.1:c.3141T>G
  • NM_001407698.1:c.3141T>G
  • NM_001407724.1:c.3141T>G
  • NM_001407725.1:c.3141T>G
  • NM_001407726.1:c.3141T>G
  • NM_001407727.1:c.3141T>G
  • NM_001407728.1:c.3141T>G
  • NM_001407729.1:c.3141T>G
  • NM_001407730.1:c.3141T>G
  • NM_001407731.1:c.3141T>G
  • NM_001407732.1:c.3141T>G
  • NM_001407733.1:c.3141T>G
  • NM_001407734.1:c.3141T>G
  • NM_001407735.1:c.3141T>G
  • NM_001407736.1:c.3141T>G
  • NM_001407737.1:c.3141T>G
  • NM_001407738.1:c.3141T>G
  • NM_001407739.1:c.3141T>G
  • NM_001407740.1:c.3138T>G
  • NM_001407741.1:c.3138T>G
  • NM_001407742.1:c.3138T>G
  • NM_001407743.1:c.3138T>G
  • NM_001407744.1:c.3138T>G
  • NM_001407745.1:c.3138T>G
  • NM_001407746.1:c.3138T>G
  • NM_001407747.1:c.3138T>G
  • NM_001407748.1:c.3138T>G
  • NM_001407749.1:c.3138T>G
  • NM_001407750.1:c.3141T>G
  • NM_001407751.1:c.3141T>G
  • NM_001407752.1:c.3141T>G
  • NM_001407838.1:c.3138T>G
  • NM_001407839.1:c.3138T>G
  • NM_001407841.1:c.3138T>G
  • NM_001407842.1:c.3138T>G
  • NM_001407843.1:c.3138T>G
  • NM_001407844.1:c.3138T>G
  • NM_001407845.1:c.3138T>G
  • NM_001407846.1:c.3138T>G
  • NM_001407847.1:c.3138T>G
  • NM_001407848.1:c.3138T>G
  • NM_001407849.1:c.3138T>G
  • NM_001407850.1:c.3141T>G
  • NM_001407851.1:c.3141T>G
  • NM_001407852.1:c.3141T>G
  • NM_001407853.1:c.3069T>G
  • NM_001407854.1:c.3282T>G
  • NM_001407858.1:c.3282T>G
  • NM_001407859.1:c.3282T>G
  • NM_001407860.1:c.3279T>G
  • NM_001407861.1:c.3279T>G
  • NM_001407862.1:c.3081T>G
  • NM_001407863.1:c.3159T>G
  • NM_001407874.1:c.3078T>G
  • NM_001407875.1:c.3078T>G
  • NM_001407879.1:c.3072T>G
  • NM_001407881.1:c.3072T>G
  • NM_001407882.1:c.3072T>G
  • NM_001407884.1:c.3072T>G
  • NM_001407885.1:c.3072T>G
  • NM_001407886.1:c.3072T>G
  • NM_001407887.1:c.3072T>G
  • NM_001407889.1:c.3072T>G
  • NM_001407894.1:c.3069T>G
  • NM_001407895.1:c.3069T>G
  • NM_001407896.1:c.3069T>G
  • NM_001407897.1:c.3069T>G
  • NM_001407898.1:c.3069T>G
  • NM_001407899.1:c.3069T>G
  • NM_001407900.1:c.3072T>G
  • NM_001407902.1:c.3072T>G
  • NM_001407904.1:c.3072T>G
  • NM_001407906.1:c.3072T>G
  • NM_001407907.1:c.3072T>G
  • NM_001407908.1:c.3072T>G
  • NM_001407909.1:c.3072T>G
  • NM_001407910.1:c.3072T>G
  • NM_001407915.1:c.3069T>G
  • NM_001407916.1:c.3069T>G
  • NM_001407917.1:c.3069T>G
  • NM_001407918.1:c.3069T>G
  • NM_001407919.1:c.3159T>G
  • NM_001407920.1:c.3018T>G
  • NM_001407921.1:c.3018T>G
  • NM_001407922.1:c.3018T>G
  • NM_001407923.1:c.3018T>G
  • NM_001407924.1:c.3018T>G
  • NM_001407925.1:c.3018T>G
  • NM_001407926.1:c.3018T>G
  • NM_001407927.1:c.3018T>G
  • NM_001407928.1:c.3018T>G
  • NM_001407929.1:c.3018T>G
  • NM_001407930.1:c.3015T>G
  • NM_001407931.1:c.3015T>G
  • NM_001407932.1:c.3015T>G
  • NM_001407933.1:c.3018T>G
  • NM_001407934.1:c.3015T>G
  • NM_001407935.1:c.3018T>G
  • NM_001407936.1:c.3015T>G
  • NM_001407937.1:c.3159T>G
  • NM_001407938.1:c.3159T>G
  • NM_001407939.1:c.3159T>G
  • NM_001407940.1:c.3156T>G
  • NM_001407941.1:c.3156T>G
  • NM_001407942.1:c.3141T>G
  • NM_001407943.1:c.3138T>G
  • NM_001407944.1:c.3141T>G
  • NM_001407945.1:c.3141T>G
  • NM_001407946.1:c.2949T>G
  • NM_001407947.1:c.2949T>G
  • NM_001407948.1:c.2949T>G
  • NM_001407949.1:c.2949T>G
  • NM_001407950.1:c.2949T>G
  • NM_001407951.1:c.2949T>G
  • NM_001407952.1:c.2949T>G
  • NM_001407953.1:c.2949T>G
  • NM_001407954.1:c.2946T>G
  • NM_001407955.1:c.2946T>G
  • NM_001407956.1:c.2946T>G
  • NM_001407957.1:c.2949T>G
  • NM_001407958.1:c.2946T>G
  • NM_001407959.1:c.2901T>G
  • NM_001407960.1:c.2901T>G
  • NM_001407962.1:c.2898T>G
  • NM_001407963.1:c.2901T>G
  • NM_001407964.1:c.3138T>G
  • NM_001407965.1:c.2778T>G
  • NM_001407966.1:c.2394T>G
  • NM_001407967.1:c.2394T>G
  • NM_001407968.1:c.788-110T>G
  • NM_001407969.1:c.788-110T>G
  • NM_001407970.1:c.788-1217T>G
  • NM_001407971.1:c.788-1217T>G
  • NM_001407972.1:c.785-1217T>G
  • NM_001407973.1:c.788-1217T>G
  • NM_001407974.1:c.788-1217T>G
  • NM_001407975.1:c.788-1217T>G
  • NM_001407976.1:c.788-1217T>G
  • NM_001407977.1:c.788-1217T>G
  • NM_001407978.1:c.788-1217T>G
  • NM_001407979.1:c.788-1217T>G
  • NM_001407980.1:c.788-1217T>G
  • NM_001407981.1:c.788-1217T>G
  • NM_001407982.1:c.788-1217T>G
  • NM_001407983.1:c.788-1217T>G
  • NM_001407984.1:c.785-1217T>G
  • NM_001407985.1:c.785-1217T>G
  • NM_001407986.1:c.785-1217T>G
  • NM_001407990.1:c.788-1217T>G
  • NM_001407991.1:c.785-1217T>G
  • NM_001407992.1:c.785-1217T>G
  • NM_001407993.1:c.788-1217T>G
  • NM_001408392.1:c.785-1217T>G
  • NM_001408396.1:c.785-1217T>G
  • NM_001408397.1:c.785-1217T>G
  • NM_001408398.1:c.785-1217T>G
  • NM_001408399.1:c.785-1217T>G
  • NM_001408400.1:c.785-1217T>G
  • NM_001408401.1:c.785-1217T>G
  • NM_001408402.1:c.785-1217T>G
  • NM_001408403.1:c.788-1217T>G
  • NM_001408404.1:c.788-1217T>G
  • NM_001408406.1:c.791-1226T>G
  • NM_001408407.1:c.785-1217T>G
  • NM_001408408.1:c.779-1217T>G
  • NM_001408409.1:c.710-1217T>G
  • NM_001408410.1:c.647-1217T>G
  • NM_001408411.1:c.710-1217T>G
  • NM_001408412.1:c.710-1217T>G
  • NM_001408413.1:c.707-1217T>G
  • NM_001408414.1:c.710-1217T>G
  • NM_001408415.1:c.710-1217T>G
  • NM_001408416.1:c.707-1217T>G
  • NM_001408418.1:c.671-1217T>G
  • NM_001408419.1:c.671-1217T>G
  • NM_001408420.1:c.671-1217T>G
  • NM_001408421.1:c.668-1217T>G
  • NM_001408422.1:c.671-1217T>G
  • NM_001408423.1:c.671-1217T>G
  • NM_001408424.1:c.668-1217T>G
  • NM_001408425.1:c.665-1217T>G
  • NM_001408426.1:c.665-1217T>G
  • NM_001408427.1:c.665-1217T>G
  • NM_001408428.1:c.665-1217T>G
  • NM_001408429.1:c.665-1217T>G
  • NM_001408430.1:c.665-1217T>G
  • NM_001408431.1:c.668-1217T>G
  • NM_001408432.1:c.662-1217T>G
  • NM_001408433.1:c.662-1217T>G
  • NM_001408434.1:c.662-1217T>G
  • NM_001408435.1:c.662-1217T>G
  • NM_001408436.1:c.665-1217T>G
  • NM_001408437.1:c.665-1217T>G
  • NM_001408438.1:c.665-1217T>G
  • NM_001408439.1:c.665-1217T>G
  • NM_001408440.1:c.665-1217T>G
  • NM_001408441.1:c.665-1217T>G
  • NM_001408442.1:c.665-1217T>G
  • NM_001408443.1:c.665-1217T>G
  • NM_001408444.1:c.665-1217T>G
  • NM_001408445.1:c.662-1217T>G
  • NM_001408446.1:c.662-1217T>G
  • NM_001408447.1:c.662-1217T>G
  • NM_001408448.1:c.662-1217T>G
  • NM_001408450.1:c.662-1217T>G
  • NM_001408451.1:c.653-1217T>G
  • NM_001408452.1:c.647-1217T>G
  • NM_001408453.1:c.647-1217T>G
  • NM_001408454.1:c.647-1217T>G
  • NM_001408455.1:c.647-1217T>G
  • NM_001408456.1:c.647-1217T>G
  • NM_001408457.1:c.647-1217T>G
  • NM_001408458.1:c.647-1217T>G
  • NM_001408459.1:c.647-1217T>G
  • NM_001408460.1:c.647-1217T>G
  • NM_001408461.1:c.647-1217T>G
  • NM_001408462.1:c.644-1217T>G
  • NM_001408463.1:c.644-1217T>G
  • NM_001408464.1:c.644-1217T>G
  • NM_001408465.1:c.644-1217T>G
  • NM_001408466.1:c.647-1217T>G
  • NM_001408467.1:c.647-1217T>G
  • NM_001408468.1:c.644-1217T>G
  • NM_001408469.1:c.647-1217T>G
  • NM_001408470.1:c.644-1217T>G
  • NM_001408472.1:c.788-1217T>G
  • NM_001408473.1:c.785-1217T>G
  • NM_001408474.1:c.587-1217T>G
  • NM_001408475.1:c.584-1217T>G
  • NM_001408476.1:c.587-1217T>G
  • NM_001408478.1:c.578-1217T>G
  • NM_001408479.1:c.578-1217T>G
  • NM_001408480.1:c.578-1217T>G
  • NM_001408481.1:c.578-1217T>G
  • NM_001408482.1:c.578-1217T>G
  • NM_001408483.1:c.578-1217T>G
  • NM_001408484.1:c.578-1217T>G
  • NM_001408485.1:c.578-1217T>G
  • NM_001408489.1:c.578-1217T>G
  • NM_001408490.1:c.575-1217T>G
  • NM_001408491.1:c.575-1217T>G
  • NM_001408492.1:c.578-1217T>G
  • NM_001408493.1:c.575-1217T>G
  • NM_001408494.1:c.548-1217T>G
  • NM_001408495.1:c.545-1217T>G
  • NM_001408496.1:c.524-1217T>G
  • NM_001408497.1:c.524-1217T>G
  • NM_001408498.1:c.524-1217T>G
  • NM_001408499.1:c.524-1217T>G
  • NM_001408500.1:c.524-1217T>G
  • NM_001408501.1:c.524-1217T>G
  • NM_001408502.1:c.455-1217T>G
  • NM_001408503.1:c.521-1217T>G
  • NM_001408504.1:c.521-1217T>G
  • NM_001408505.1:c.521-1217T>G
  • NM_001408506.1:c.461-1217T>G
  • NM_001408507.1:c.461-1217T>G
  • NM_001408508.1:c.452-1217T>G
  • NM_001408509.1:c.452-1217T>G
  • NM_001408510.1:c.407-1217T>G
  • NM_001408511.1:c.404-1217T>G
  • NM_001408512.1:c.284-1217T>G
  • NM_001408513.1:c.578-1217T>G
  • NM_001408514.1:c.578-1217T>G
  • NM_007294.4:c.3282T>GMANE SELECT
  • NM_007297.4:c.3141T>G
  • NM_007298.4:c.788-1217T>G
  • NM_007299.4:c.788-1217T>G
  • NM_007300.4:c.3282T>G
  • NP_001394500.1:p.Tyr1023Ter
  • NP_001394510.1:p.Tyr1094Ter
  • NP_001394511.1:p.Tyr1094Ter
  • NP_001394512.1:p.Tyr1094Ter
  • NP_001394514.1:p.Tyr1094Ter
  • NP_001394516.1:p.Tyr1093Ter
  • NP_001394519.1:p.Tyr1093Ter
  • NP_001394520.1:p.Tyr1093Ter
  • NP_001394522.1:p.Tyr1094Ter
  • NP_001394523.1:p.Tyr1094Ter
  • NP_001394525.1:p.Tyr1094Ter
  • NP_001394526.1:p.Tyr1094Ter
  • NP_001394527.1:p.Tyr1094Ter
  • NP_001394531.1:p.Tyr1094Ter
  • NP_001394532.1:p.Tyr1094Ter
  • NP_001394534.1:p.Tyr1094Ter
  • NP_001394539.1:p.Tyr1093Ter
  • NP_001394540.1:p.Tyr1093Ter
  • NP_001394541.1:p.Tyr1093Ter
  • NP_001394542.1:p.Tyr1093Ter
  • NP_001394543.1:p.Tyr1093Ter
  • NP_001394544.1:p.Tyr1093Ter
  • NP_001394545.1:p.Tyr1094Ter
  • NP_001394546.1:p.Tyr1094Ter
  • NP_001394547.1:p.Tyr1094Ter
  • NP_001394548.1:p.Tyr1094Ter
  • NP_001394549.1:p.Tyr1094Ter
  • NP_001394550.1:p.Tyr1094Ter
  • NP_001394551.1:p.Tyr1094Ter
  • NP_001394552.1:p.Tyr1094Ter
  • NP_001394553.1:p.Tyr1094Ter
  • NP_001394554.1:p.Tyr1094Ter
  • NP_001394555.1:p.Tyr1094Ter
  • NP_001394556.1:p.Tyr1093Ter
  • NP_001394557.1:p.Tyr1093Ter
  • NP_001394558.1:p.Tyr1093Ter
  • NP_001394559.1:p.Tyr1093Ter
  • NP_001394560.1:p.Tyr1093Ter
  • NP_001394561.1:p.Tyr1093Ter
  • NP_001394562.1:p.Tyr1093Ter
  • NP_001394563.1:p.Tyr1093Ter
  • NP_001394564.1:p.Tyr1093Ter
  • NP_001394565.1:p.Tyr1093Ter
  • NP_001394566.1:p.Tyr1093Ter
  • NP_001394567.1:p.Tyr1093Ter
  • NP_001394568.1:p.Tyr1094Ter
  • NP_001394569.1:p.Tyr1094Ter
  • NP_001394570.1:p.Tyr1094Ter
  • NP_001394571.1:p.Tyr1094Ter
  • NP_001394573.1:p.Tyr1093Ter
  • NP_001394574.1:p.Tyr1093Ter
  • NP_001394575.1:p.Tyr1091Ter
  • NP_001394576.1:p.Tyr1091Ter
  • NP_001394577.1:p.Tyr1053Ter
  • NP_001394578.1:p.Tyr1052Ter
  • NP_001394581.1:p.Tyr1094Ter
  • NP_001394582.1:p.Tyr1068Ter
  • NP_001394583.1:p.Tyr1068Ter
  • NP_001394584.1:p.Tyr1068Ter
  • NP_001394585.1:p.Tyr1068Ter
  • NP_001394586.1:p.Tyr1068Ter
  • NP_001394587.1:p.Tyr1068Ter
  • NP_001394588.1:p.Tyr1067Ter
  • NP_001394589.1:p.Tyr1067Ter
  • NP_001394590.1:p.Tyr1067Ter
  • NP_001394591.1:p.Tyr1067Ter
  • NP_001394592.1:p.Tyr1068Ter
  • NP_001394593.1:p.Tyr1053Ter
  • NP_001394594.1:p.Tyr1053Ter
  • NP_001394595.1:p.Tyr1053Ter
  • NP_001394596.1:p.Tyr1053Ter
  • NP_001394597.1:p.Tyr1053Ter
  • NP_001394598.1:p.Tyr1053Ter
  • NP_001394599.1:p.Tyr1052Ter
  • NP_001394600.1:p.Tyr1052Ter
  • NP_001394601.1:p.Tyr1052Ter
  • NP_001394602.1:p.Tyr1052Ter
  • NP_001394603.1:p.Tyr1053Ter
  • NP_001394604.1:p.Tyr1053Ter
  • NP_001394605.1:p.Tyr1053Ter
  • NP_001394606.1:p.Tyr1053Ter
  • NP_001394607.1:p.Tyr1053Ter
  • NP_001394608.1:p.Tyr1053Ter
  • NP_001394609.1:p.Tyr1053Ter
  • NP_001394610.1:p.Tyr1053Ter
  • NP_001394611.1:p.Tyr1053Ter
  • NP_001394612.1:p.Tyr1053Ter
  • NP_001394613.1:p.Tyr1094Ter
  • NP_001394614.1:p.Tyr1052Ter
  • NP_001394615.1:p.Tyr1052Ter
  • NP_001394616.1:p.Tyr1052Ter
  • NP_001394617.1:p.Tyr1052Ter
  • NP_001394618.1:p.Tyr1052Ter
  • NP_001394619.1:p.Tyr1052Ter
  • NP_001394620.1:p.Tyr1052Ter
  • NP_001394621.1:p.Tyr1047Ter
  • NP_001394623.1:p.Tyr1047Ter
  • NP_001394624.1:p.Tyr1047Ter
  • NP_001394625.1:p.Tyr1047Ter
  • NP_001394626.1:p.Tyr1047Ter
  • NP_001394627.1:p.Tyr1047Ter
  • NP_001394653.1:p.Tyr1047Ter
  • NP_001394654.1:p.Tyr1047Ter
  • NP_001394655.1:p.Tyr1047Ter
  • NP_001394656.1:p.Tyr1047Ter
  • NP_001394657.1:p.Tyr1047Ter
  • NP_001394658.1:p.Tyr1047Ter
  • NP_001394659.1:p.Tyr1047Ter
  • NP_001394660.1:p.Tyr1047Ter
  • NP_001394661.1:p.Tyr1047Ter
  • NP_001394662.1:p.Tyr1047Ter
  • NP_001394663.1:p.Tyr1047Ter
  • NP_001394664.1:p.Tyr1047Ter
  • NP_001394665.1:p.Tyr1047Ter
  • NP_001394666.1:p.Tyr1047Ter
  • NP_001394667.1:p.Tyr1047Ter
  • NP_001394668.1:p.Tyr1047Ter
  • NP_001394669.1:p.Tyr1046Ter
  • NP_001394670.1:p.Tyr1046Ter
  • NP_001394671.1:p.Tyr1046Ter
  • NP_001394672.1:p.Tyr1046Ter
  • NP_001394673.1:p.Tyr1046Ter
  • NP_001394674.1:p.Tyr1046Ter
  • NP_001394675.1:p.Tyr1046Ter
  • NP_001394676.1:p.Tyr1046Ter
  • NP_001394677.1:p.Tyr1046Ter
  • NP_001394678.1:p.Tyr1046Ter
  • NP_001394679.1:p.Tyr1047Ter
  • NP_001394680.1:p.Tyr1047Ter
  • NP_001394681.1:p.Tyr1047Ter
  • NP_001394767.1:p.Tyr1046Ter
  • NP_001394768.1:p.Tyr1046Ter
  • NP_001394770.1:p.Tyr1046Ter
  • NP_001394771.1:p.Tyr1046Ter
  • NP_001394772.1:p.Tyr1046Ter
  • NP_001394773.1:p.Tyr1046Ter
  • NP_001394774.1:p.Tyr1046Ter
  • NP_001394775.1:p.Tyr1046Ter
  • NP_001394776.1:p.Tyr1046Ter
  • NP_001394777.1:p.Tyr1046Ter
  • NP_001394778.1:p.Tyr1046Ter
  • NP_001394779.1:p.Tyr1047Ter
  • NP_001394780.1:p.Tyr1047Ter
  • NP_001394781.1:p.Tyr1047Ter
  • NP_001394782.1:p.Tyr1023Ter
  • NP_001394783.1:p.Tyr1094Ter
  • NP_001394787.1:p.Tyr1094Ter
  • NP_001394788.1:p.Tyr1094Ter
  • NP_001394789.1:p.Tyr1093Ter
  • NP_001394790.1:p.Tyr1093Ter
  • NP_001394791.1:p.Tyr1027Ter
  • NP_001394792.1:p.Tyr1053Ter
  • NP_001394803.1:p.Tyr1026Ter
  • NP_001394804.1:p.Tyr1026Ter
  • NP_001394808.1:p.Tyr1024Ter
  • NP_001394810.1:p.Tyr1024Ter
  • NP_001394811.1:p.Tyr1024Ter
  • NP_001394813.1:p.Tyr1024Ter
  • NP_001394814.1:p.Tyr1024Ter
  • NP_001394815.1:p.Tyr1024Ter
  • NP_001394816.1:p.Tyr1024Ter
  • NP_001394818.1:p.Tyr1024Ter
  • NP_001394823.1:p.Tyr1023Ter
  • NP_001394824.1:p.Tyr1023Ter
  • NP_001394825.1:p.Tyr1023Ter
  • NP_001394826.1:p.Tyr1023Ter
  • NP_001394827.1:p.Tyr1023Ter
  • NP_001394828.1:p.Tyr1023Ter
  • NP_001394829.1:p.Tyr1024Ter
  • NP_001394831.1:p.Tyr1024Ter
  • NP_001394833.1:p.Tyr1024Ter
  • NP_001394835.1:p.Tyr1024Ter
  • NP_001394836.1:p.Tyr1024Ter
  • NP_001394837.1:p.Tyr1024Ter
  • NP_001394838.1:p.Tyr1024Ter
  • NP_001394839.1:p.Tyr1024Ter
  • NP_001394844.1:p.Tyr1023Ter
  • NP_001394845.1:p.Tyr1023Ter
  • NP_001394846.1:p.Tyr1023Ter
  • NP_001394847.1:p.Tyr1023Ter
  • NP_001394848.1:p.Tyr1053Ter
  • NP_001394849.1:p.Tyr1006Ter
  • NP_001394850.1:p.Tyr1006Ter
  • NP_001394851.1:p.Tyr1006Ter
  • NP_001394852.1:p.Tyr1006Ter
  • NP_001394853.1:p.Tyr1006Ter
  • NP_001394854.1:p.Tyr1006Ter
  • NP_001394855.1:p.Tyr1006Ter
  • NP_001394856.1:p.Tyr1006Ter
  • NP_001394857.1:p.Tyr1006Ter
  • NP_001394858.1:p.Tyr1006Ter
  • NP_001394859.1:p.Tyr1005Ter
  • NP_001394860.1:p.Tyr1005Ter
  • NP_001394861.1:p.Tyr1005Ter
  • NP_001394862.1:p.Tyr1006Ter
  • NP_001394863.1:p.Tyr1005Ter
  • NP_001394864.1:p.Tyr1006Ter
  • NP_001394865.1:p.Tyr1005Ter
  • NP_001394866.1:p.Tyr1053Ter
  • NP_001394867.1:p.Tyr1053Ter
  • NP_001394868.1:p.Tyr1053Ter
  • NP_001394869.1:p.Tyr1052Ter
  • NP_001394870.1:p.Tyr1052Ter
  • NP_001394871.1:p.Tyr1047Ter
  • NP_001394872.1:p.Tyr1046Ter
  • NP_001394873.1:p.Tyr1047Ter
  • NP_001394874.1:p.Tyr1047Ter
  • NP_001394875.1:p.Tyr983Ter
  • NP_001394876.1:p.Tyr983Ter
  • NP_001394877.1:p.Tyr983Ter
  • NP_001394878.1:p.Tyr983Ter
  • NP_001394879.1:p.Tyr983Ter
  • NP_001394880.1:p.Tyr983Ter
  • NP_001394881.1:p.Tyr983Ter
  • NP_001394882.1:p.Tyr983Ter
  • NP_001394883.1:p.Tyr982Ter
  • NP_001394884.1:p.Tyr982Ter
  • NP_001394885.1:p.Tyr982Ter
  • NP_001394886.1:p.Tyr983Ter
  • NP_001394887.1:p.Tyr982Ter
  • NP_001394888.1:p.Tyr967Ter
  • NP_001394889.1:p.Tyr967Ter
  • NP_001394891.1:p.Tyr966Ter
  • NP_001394892.1:p.Tyr967Ter
  • NP_001394893.1:p.Tyr1046Ter
  • NP_001394894.1:p.Tyr926Ter
  • NP_001394895.1:p.Tyr798Ter
  • NP_001394896.1:p.Tyr798Ter
  • NP_009225.1:p.Tyr1094Ter
  • NP_009225.1:p.Tyr1094Ter
  • NP_009228.2:p.Tyr1047Ter
  • NP_009231.2:p.Tyr1094Ter
  • LRG_292t1:c.3282T>G
  • LRG_292:g.125735T>G
  • LRG_292p1:p.Tyr1094Ter
  • NC_000017.10:g.41244266A>C
  • NM_007294.3:c.3282T>G
  • NR_027676.1:n.3418T>G
  • p.Tyr1094X
Protein change:
Y1005*
Links:
dbSNP: rs886040111
NCBI 1000 Genomes Browser:
rs886040111
Molecular consequence:
  • NM_001407968.1:c.788-110T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-110T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1226T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1217T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3069T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407581.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407582.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407583.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407585.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407587.1:c.3279T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407590.1:c.3279T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407591.1:c.3279T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407593.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407594.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407596.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407597.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407598.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407602.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407603.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407605.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407610.1:c.3279T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407611.1:c.3279T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407612.1:c.3279T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407613.1:c.3279T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407614.1:c.3279T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407615.1:c.3279T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407616.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407617.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407618.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407619.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407620.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407621.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407622.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407623.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407624.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407625.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407626.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407627.1:c.3279T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407628.1:c.3279T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407629.1:c.3279T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407630.1:c.3279T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407631.1:c.3279T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407632.1:c.3279T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407633.1:c.3279T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407634.1:c.3279T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407635.1:c.3279T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407636.1:c.3279T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407637.1:c.3279T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407638.1:c.3279T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407639.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407640.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407641.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407642.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407644.1:c.3279T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407645.1:c.3279T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407646.1:c.3273T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407647.1:c.3273T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407648.1:c.3159T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407649.1:c.3156T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407652.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407653.1:c.3204T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407654.1:c.3204T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407655.1:c.3204T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407656.1:c.3204T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407657.1:c.3204T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407658.1:c.3204T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407659.1:c.3201T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407660.1:c.3201T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407661.1:c.3201T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407662.1:c.3201T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407663.1:c.3204T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407664.1:c.3159T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407665.1:c.3159T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407666.1:c.3159T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407667.1:c.3159T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407668.1:c.3159T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407669.1:c.3159T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407670.1:c.3156T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407671.1:c.3156T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407672.1:c.3156T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407673.1:c.3156T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407674.1:c.3159T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407675.1:c.3159T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407676.1:c.3159T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407677.1:c.3159T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407678.1:c.3159T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407679.1:c.3159T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407680.1:c.3159T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407681.1:c.3159T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407682.1:c.3159T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407683.1:c.3159T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407684.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407685.1:c.3156T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407686.1:c.3156T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407687.1:c.3156T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407688.1:c.3156T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407689.1:c.3156T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407690.1:c.3156T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407691.1:c.3156T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407692.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407694.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407695.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407696.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407697.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407698.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407724.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407725.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407726.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407727.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407728.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407729.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407730.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407731.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407732.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407733.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407734.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407735.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407736.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407737.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407738.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407739.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407740.1:c.3138T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407741.1:c.3138T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407742.1:c.3138T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407743.1:c.3138T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407744.1:c.3138T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407745.1:c.3138T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407746.1:c.3138T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407747.1:c.3138T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407748.1:c.3138T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407749.1:c.3138T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407750.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407751.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407752.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407838.1:c.3138T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407839.1:c.3138T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407841.1:c.3138T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407842.1:c.3138T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407843.1:c.3138T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407844.1:c.3138T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407845.1:c.3138T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407846.1:c.3138T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407847.1:c.3138T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407848.1:c.3138T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407849.1:c.3138T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407850.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407851.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407852.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407853.1:c.3069T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407854.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407858.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407859.1:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407860.1:c.3279T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407861.1:c.3279T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407862.1:c.3081T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407863.1:c.3159T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407874.1:c.3078T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407875.1:c.3078T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407879.1:c.3072T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407881.1:c.3072T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407882.1:c.3072T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407884.1:c.3072T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407885.1:c.3072T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407886.1:c.3072T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407887.1:c.3072T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407889.1:c.3072T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407894.1:c.3069T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407895.1:c.3069T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407896.1:c.3069T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407897.1:c.3069T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407898.1:c.3069T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407899.1:c.3069T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407900.1:c.3072T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407902.1:c.3072T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407904.1:c.3072T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407906.1:c.3072T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407907.1:c.3072T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407908.1:c.3072T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407909.1:c.3072T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407910.1:c.3072T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407915.1:c.3069T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407916.1:c.3069T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407917.1:c.3069T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407918.1:c.3069T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407919.1:c.3159T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407920.1:c.3018T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407921.1:c.3018T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407922.1:c.3018T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407923.1:c.3018T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407924.1:c.3018T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407925.1:c.3018T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407926.1:c.3018T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407927.1:c.3018T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407928.1:c.3018T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407929.1:c.3018T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407930.1:c.3015T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407931.1:c.3015T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407932.1:c.3015T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407933.1:c.3018T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407934.1:c.3015T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407935.1:c.3018T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407936.1:c.3015T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407937.1:c.3159T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407938.1:c.3159T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407939.1:c.3159T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407940.1:c.3156T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407941.1:c.3156T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407942.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407943.1:c.3138T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407944.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407945.1:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407946.1:c.2949T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407947.1:c.2949T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407948.1:c.2949T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407949.1:c.2949T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407950.1:c.2949T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407951.1:c.2949T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407952.1:c.2949T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407953.1:c.2949T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407954.1:c.2946T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407955.1:c.2946T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407956.1:c.2946T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407957.1:c.2949T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407958.1:c.2946T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407959.1:c.2901T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407960.1:c.2901T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407962.1:c.2898T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407963.1:c.2901T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407964.1:c.3138T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407965.1:c.2778T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407966.1:c.2394T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407967.1:c.2394T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007294.4:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007297.4:c.3141T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007300.4:c.3282T>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004004350Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(May 1, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, et al.

Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.

PubMed [citation]
PMID:
29446198
PMCID:
PMC5903938

Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes.

De Talhouet S, Peron J, Vuilleumier A, Friedlaender A, Viassolo V, Ayme A, Bodmer A, Treilleux I, Lang N, Tille JC, Chappuis PO, Buisson A, Giraud S, Lasset C, Bonadona V, Trédan O, Labidi-Galy SI.

Sci Rep. 2020 Apr 27;10(1):7073. doi: 10.1038/s41598-020-63759-1. Erratum in: Sci Rep. 2020 Nov 2;10(1):19248. doi: 10.1038/s41598-020-76385-8.

PubMed [citation]
PMID:
32341426
PMCID:
PMC7184602

Details of each submission

From Ambry Genetics, SCV004004350.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.Y1094* pathogenic mutation (also known as c.3282T>G), located in coding exon 9 of the BRCA1 gene, results from a T to G substitution at nucleotide position 3282. This changes the amino acid from a tyrosine to a stop codon within coding exon 9. This mutation was identified in a cohort of 925 breast cancer patients from either France or Switzerland (De Talhouet S et al. Sci Rep, 2020 Apr;10:7073). This alteration was also identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum Mutat, 2018 May;39:593-620). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: May 1, 2024