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NM_007294.4(BRCA1):c.1012A>T (p.Lys338Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 15, 2024
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:
RCV004998163.1

Allele description [Variation Report for NM_007294.4(BRCA1):c.1012A>T (p.Lys338Ter)]

NM_007294.4(BRCA1):c.1012A>T (p.Lys338Ter)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.1012A>T (p.Lys338Ter)
HGVS:
  • NC_000017.11:g.43094519T>A
  • NG_005905.2:g.123465A>T
  • NM_001407571.1:c.799A>T
  • NM_001407581.1:c.1012A>T
  • NM_001407582.1:c.1012A>T
  • NM_001407583.1:c.1012A>T
  • NM_001407585.1:c.1012A>T
  • NM_001407587.1:c.1009A>T
  • NM_001407590.1:c.1009A>T
  • NM_001407591.1:c.1009A>T
  • NM_001407593.1:c.1012A>T
  • NM_001407594.1:c.1012A>T
  • NM_001407596.1:c.1012A>T
  • NM_001407597.1:c.1012A>T
  • NM_001407598.1:c.1012A>T
  • NM_001407602.1:c.1012A>T
  • NM_001407603.1:c.1012A>T
  • NM_001407605.1:c.1012A>T
  • NM_001407610.1:c.1009A>T
  • NM_001407611.1:c.1009A>T
  • NM_001407612.1:c.1009A>T
  • NM_001407613.1:c.1009A>T
  • NM_001407614.1:c.1009A>T
  • NM_001407615.1:c.1009A>T
  • NM_001407616.1:c.1012A>T
  • NM_001407617.1:c.1012A>T
  • NM_001407618.1:c.1012A>T
  • NM_001407619.1:c.1012A>T
  • NM_001407620.1:c.1012A>T
  • NM_001407621.1:c.1012A>T
  • NM_001407622.1:c.1012A>T
  • NM_001407623.1:c.1012A>T
  • NM_001407624.1:c.1012A>T
  • NM_001407625.1:c.1012A>T
  • NM_001407626.1:c.1012A>T
  • NM_001407627.1:c.1009A>T
  • NM_001407628.1:c.1009A>T
  • NM_001407629.1:c.1009A>T
  • NM_001407630.1:c.1009A>T
  • NM_001407631.1:c.1009A>T
  • NM_001407632.1:c.1009A>T
  • NM_001407633.1:c.1009A>T
  • NM_001407634.1:c.1009A>T
  • NM_001407635.1:c.1009A>T
  • NM_001407636.1:c.1009A>T
  • NM_001407637.1:c.1009A>T
  • NM_001407638.1:c.1009A>T
  • NM_001407639.1:c.1012A>T
  • NM_001407640.1:c.1012A>T
  • NM_001407641.1:c.1012A>T
  • NM_001407642.1:c.1012A>T
  • NM_001407644.1:c.1009A>T
  • NM_001407645.1:c.1009A>T
  • NM_001407646.1:c.1003A>T
  • NM_001407647.1:c.1003A>T
  • NM_001407648.1:c.889A>T
  • NM_001407649.1:c.886A>T
  • NM_001407652.1:c.1012A>T
  • NM_001407653.1:c.934A>T
  • NM_001407654.1:c.934A>T
  • NM_001407655.1:c.934A>T
  • NM_001407656.1:c.934A>T
  • NM_001407657.1:c.934A>T
  • NM_001407658.1:c.934A>T
  • NM_001407659.1:c.931A>T
  • NM_001407660.1:c.931A>T
  • NM_001407661.1:c.931A>T
  • NM_001407662.1:c.931A>T
  • NM_001407663.1:c.934A>T
  • NM_001407664.1:c.889A>T
  • NM_001407665.1:c.889A>T
  • NM_001407666.1:c.889A>T
  • NM_001407667.1:c.889A>T
  • NM_001407668.1:c.889A>T
  • NM_001407669.1:c.889A>T
  • NM_001407670.1:c.886A>T
  • NM_001407671.1:c.886A>T
  • NM_001407672.1:c.886A>T
  • NM_001407673.1:c.886A>T
  • NM_001407674.1:c.889A>T
  • NM_001407675.1:c.889A>T
  • NM_001407676.1:c.889A>T
  • NM_001407677.1:c.889A>T
  • NM_001407678.1:c.889A>T
  • NM_001407679.1:c.889A>T
  • NM_001407680.1:c.889A>T
  • NM_001407681.1:c.889A>T
  • NM_001407682.1:c.889A>T
  • NM_001407683.1:c.889A>T
  • NM_001407684.1:c.1012A>T
  • NM_001407685.1:c.886A>T
  • NM_001407686.1:c.886A>T
  • NM_001407687.1:c.886A>T
  • NM_001407688.1:c.886A>T
  • NM_001407689.1:c.886A>T
  • NM_001407690.1:c.886A>T
  • NM_001407691.1:c.886A>T
  • NM_001407692.1:c.871A>T
  • NM_001407694.1:c.871A>T
  • NM_001407695.1:c.871A>T
  • NM_001407696.1:c.871A>T
  • NM_001407697.1:c.871A>T
  • NM_001407698.1:c.871A>T
  • NM_001407724.1:c.871A>T
  • NM_001407725.1:c.871A>T
  • NM_001407726.1:c.871A>T
  • NM_001407727.1:c.871A>T
  • NM_001407728.1:c.871A>T
  • NM_001407729.1:c.871A>T
  • NM_001407730.1:c.871A>T
  • NM_001407731.1:c.871A>T
  • NM_001407732.1:c.871A>T
  • NM_001407733.1:c.871A>T
  • NM_001407734.1:c.871A>T
  • NM_001407735.1:c.871A>T
  • NM_001407736.1:c.871A>T
  • NM_001407737.1:c.871A>T
  • NM_001407738.1:c.871A>T
  • NM_001407739.1:c.871A>T
  • NM_001407740.1:c.868A>T
  • NM_001407741.1:c.868A>T
  • NM_001407742.1:c.868A>T
  • NM_001407743.1:c.868A>T
  • NM_001407744.1:c.868A>T
  • NM_001407745.1:c.868A>T
  • NM_001407746.1:c.868A>T
  • NM_001407747.1:c.868A>T
  • NM_001407748.1:c.868A>T
  • NM_001407749.1:c.868A>T
  • NM_001407750.1:c.871A>T
  • NM_001407751.1:c.871A>T
  • NM_001407752.1:c.871A>T
  • NM_001407838.1:c.868A>T
  • NM_001407839.1:c.868A>T
  • NM_001407841.1:c.868A>T
  • NM_001407842.1:c.868A>T
  • NM_001407843.1:c.868A>T
  • NM_001407844.1:c.868A>T
  • NM_001407845.1:c.868A>T
  • NM_001407846.1:c.868A>T
  • NM_001407847.1:c.868A>T
  • NM_001407848.1:c.868A>T
  • NM_001407849.1:c.868A>T
  • NM_001407850.1:c.871A>T
  • NM_001407851.1:c.871A>T
  • NM_001407852.1:c.871A>T
  • NM_001407853.1:c.799A>T
  • NM_001407854.1:c.1012A>T
  • NM_001407858.1:c.1012A>T
  • NM_001407859.1:c.1012A>T
  • NM_001407860.1:c.1009A>T
  • NM_001407861.1:c.1009A>T
  • NM_001407862.1:c.811A>T
  • NM_001407863.1:c.889A>T
  • NM_001407874.1:c.808A>T
  • NM_001407875.1:c.808A>T
  • NM_001407879.1:c.802A>T
  • NM_001407881.1:c.802A>T
  • NM_001407882.1:c.802A>T
  • NM_001407884.1:c.802A>T
  • NM_001407885.1:c.802A>T
  • NM_001407886.1:c.802A>T
  • NM_001407887.1:c.802A>T
  • NM_001407889.1:c.802A>T
  • NM_001407894.1:c.799A>T
  • NM_001407895.1:c.799A>T
  • NM_001407896.1:c.799A>T
  • NM_001407897.1:c.799A>T
  • NM_001407898.1:c.799A>T
  • NM_001407899.1:c.799A>T
  • NM_001407900.1:c.802A>T
  • NM_001407902.1:c.802A>T
  • NM_001407904.1:c.802A>T
  • NM_001407906.1:c.802A>T
  • NM_001407907.1:c.802A>T
  • NM_001407908.1:c.802A>T
  • NM_001407909.1:c.802A>T
  • NM_001407910.1:c.802A>T
  • NM_001407915.1:c.799A>T
  • NM_001407916.1:c.799A>T
  • NM_001407917.1:c.799A>T
  • NM_001407918.1:c.799A>T
  • NM_001407919.1:c.889A>T
  • NM_001407920.1:c.748A>T
  • NM_001407921.1:c.748A>T
  • NM_001407922.1:c.748A>T
  • NM_001407923.1:c.748A>T
  • NM_001407924.1:c.748A>T
  • NM_001407925.1:c.748A>T
  • NM_001407926.1:c.748A>T
  • NM_001407927.1:c.748A>T
  • NM_001407928.1:c.748A>T
  • NM_001407929.1:c.748A>T
  • NM_001407930.1:c.745A>T
  • NM_001407931.1:c.745A>T
  • NM_001407932.1:c.745A>T
  • NM_001407933.1:c.748A>T
  • NM_001407934.1:c.745A>T
  • NM_001407935.1:c.748A>T
  • NM_001407936.1:c.745A>T
  • NM_001407937.1:c.889A>T
  • NM_001407938.1:c.889A>T
  • NM_001407939.1:c.889A>T
  • NM_001407940.1:c.886A>T
  • NM_001407941.1:c.886A>T
  • NM_001407942.1:c.871A>T
  • NM_001407943.1:c.868A>T
  • NM_001407944.1:c.871A>T
  • NM_001407945.1:c.871A>T
  • NM_001407946.1:c.679A>T
  • NM_001407947.1:c.679A>T
  • NM_001407948.1:c.679A>T
  • NM_001407949.1:c.679A>T
  • NM_001407950.1:c.679A>T
  • NM_001407951.1:c.679A>T
  • NM_001407952.1:c.679A>T
  • NM_001407953.1:c.679A>T
  • NM_001407954.1:c.676A>T
  • NM_001407955.1:c.676A>T
  • NM_001407956.1:c.676A>T
  • NM_001407957.1:c.679A>T
  • NM_001407958.1:c.676A>T
  • NM_001407959.1:c.631A>T
  • NM_001407960.1:c.631A>T
  • NM_001407962.1:c.628A>T
  • NM_001407963.1:c.631A>T
  • NM_001407964.1:c.868A>T
  • NM_001407965.1:c.508A>T
  • NM_001407966.1:c.124A>T
  • NM_001407967.1:c.124A>T
  • NM_001407968.1:c.787+225A>T
  • NM_001407969.1:c.787+225A>T
  • NM_001407970.1:c.787+225A>T
  • NM_001407971.1:c.787+225A>T
  • NM_001407972.1:c.784+225A>T
  • NM_001407973.1:c.787+225A>T
  • NM_001407974.1:c.787+225A>T
  • NM_001407975.1:c.787+225A>T
  • NM_001407976.1:c.787+225A>T
  • NM_001407977.1:c.787+225A>T
  • NM_001407978.1:c.787+225A>T
  • NM_001407979.1:c.787+225A>T
  • NM_001407980.1:c.787+225A>T
  • NM_001407981.1:c.787+225A>T
  • NM_001407982.1:c.787+225A>T
  • NM_001407983.1:c.787+225A>T
  • NM_001407984.1:c.784+225A>T
  • NM_001407985.1:c.784+225A>T
  • NM_001407986.1:c.784+225A>T
  • NM_001407990.1:c.787+225A>T
  • NM_001407991.1:c.784+225A>T
  • NM_001407992.1:c.784+225A>T
  • NM_001407993.1:c.787+225A>T
  • NM_001408392.1:c.784+225A>T
  • NM_001408396.1:c.784+225A>T
  • NM_001408397.1:c.784+225A>T
  • NM_001408398.1:c.784+225A>T
  • NM_001408399.1:c.784+225A>T
  • NM_001408400.1:c.784+225A>T
  • NM_001408401.1:c.784+225A>T
  • NM_001408402.1:c.784+225A>T
  • NM_001408403.1:c.787+225A>T
  • NM_001408404.1:c.787+225A>T
  • NM_001408406.1:c.790+222A>T
  • NM_001408407.1:c.784+225A>T
  • NM_001408408.1:c.778+225A>T
  • NM_001408409.1:c.709+225A>T
  • NM_001408410.1:c.646+225A>T
  • NM_001408411.1:c.709+225A>T
  • NM_001408412.1:c.709+225A>T
  • NM_001408413.1:c.706+225A>T
  • NM_001408414.1:c.709+225A>T
  • NM_001408415.1:c.709+225A>T
  • NM_001408416.1:c.706+225A>T
  • NM_001408418.1:c.670+1327A>T
  • NM_001408419.1:c.670+1327A>T
  • NM_001408420.1:c.670+1327A>T
  • NM_001408421.1:c.667+1327A>T
  • NM_001408422.1:c.670+1327A>T
  • NM_001408423.1:c.670+1327A>T
  • NM_001408424.1:c.667+1327A>T
  • NM_001408425.1:c.664+225A>T
  • NM_001408426.1:c.664+225A>T
  • NM_001408427.1:c.664+225A>T
  • NM_001408428.1:c.664+225A>T
  • NM_001408429.1:c.664+225A>T
  • NM_001408430.1:c.664+225A>T
  • NM_001408431.1:c.667+1327A>T
  • NM_001408432.1:c.661+225A>T
  • NM_001408433.1:c.661+225A>T
  • NM_001408434.1:c.661+225A>T
  • NM_001408435.1:c.661+225A>T
  • NM_001408436.1:c.664+225A>T
  • NM_001408437.1:c.664+225A>T
  • NM_001408438.1:c.664+225A>T
  • NM_001408439.1:c.664+225A>T
  • NM_001408440.1:c.664+225A>T
  • NM_001408441.1:c.664+225A>T
  • NM_001408442.1:c.664+225A>T
  • NM_001408443.1:c.664+225A>T
  • NM_001408444.1:c.664+225A>T
  • NM_001408445.1:c.661+225A>T
  • NM_001408446.1:c.661+225A>T
  • NM_001408447.1:c.661+225A>T
  • NM_001408448.1:c.661+225A>T
  • NM_001408450.1:c.661+225A>T
  • NM_001408451.1:c.652+225A>T
  • NM_001408452.1:c.646+225A>T
  • NM_001408453.1:c.646+225A>T
  • NM_001408454.1:c.646+225A>T
  • NM_001408455.1:c.646+225A>T
  • NM_001408456.1:c.646+225A>T
  • NM_001408457.1:c.646+225A>T
  • NM_001408458.1:c.646+225A>T
  • NM_001408459.1:c.646+225A>T
  • NM_001408460.1:c.646+225A>T
  • NM_001408461.1:c.646+225A>T
  • NM_001408462.1:c.643+225A>T
  • NM_001408463.1:c.643+225A>T
  • NM_001408464.1:c.643+225A>T
  • NM_001408465.1:c.643+225A>T
  • NM_001408466.1:c.646+225A>T
  • NM_001408467.1:c.646+225A>T
  • NM_001408468.1:c.643+225A>T
  • NM_001408469.1:c.646+225A>T
  • NM_001408470.1:c.643+225A>T
  • NM_001408472.1:c.787+225A>T
  • NM_001408473.1:c.784+225A>T
  • NM_001408474.1:c.586+225A>T
  • NM_001408475.1:c.583+225A>T
  • NM_001408476.1:c.586+225A>T
  • NM_001408478.1:c.577+225A>T
  • NM_001408479.1:c.577+225A>T
  • NM_001408480.1:c.577+225A>T
  • NM_001408481.1:c.577+225A>T
  • NM_001408482.1:c.577+225A>T
  • NM_001408483.1:c.577+225A>T
  • NM_001408484.1:c.577+225A>T
  • NM_001408485.1:c.577+225A>T
  • NM_001408489.1:c.577+225A>T
  • NM_001408490.1:c.574+225A>T
  • NM_001408491.1:c.574+225A>T
  • NM_001408492.1:c.577+225A>T
  • NM_001408493.1:c.574+225A>T
  • NM_001408494.1:c.548-3487A>T
  • NM_001408495.1:c.545-3487A>T
  • NM_001408496.1:c.523+225A>T
  • NM_001408497.1:c.523+225A>T
  • NM_001408498.1:c.523+225A>T
  • NM_001408499.1:c.523+225A>T
  • NM_001408500.1:c.523+225A>T
  • NM_001408501.1:c.523+225A>T
  • NM_001408502.1:c.454+225A>T
  • NM_001408503.1:c.520+225A>T
  • NM_001408504.1:c.520+225A>T
  • NM_001408505.1:c.520+225A>T
  • NM_001408506.1:c.460+1327A>T
  • NM_001408507.1:c.460+1327A>T
  • NM_001408508.1:c.451+225A>T
  • NM_001408509.1:c.451+225A>T
  • NM_001408510.1:c.406+225A>T
  • NM_001408511.1:c.404-3487A>T
  • NM_001408512.1:c.283+225A>T
  • NM_001408513.1:c.577+225A>T
  • NM_001408514.1:c.577+225A>T
  • NM_007294.4:c.1012A>TMANE SELECT
  • NM_007297.4:c.871A>T
  • NM_007298.4:c.787+225A>T
  • NM_007299.4:c.787+225A>T
  • NM_007300.4:c.1012A>T
  • NP_001394500.1:p.Lys267Ter
  • NP_001394510.1:p.Lys338Ter
  • NP_001394511.1:p.Lys338Ter
  • NP_001394512.1:p.Lys338Ter
  • NP_001394514.1:p.Lys338Ter
  • NP_001394516.1:p.Lys337Ter
  • NP_001394519.1:p.Lys337Ter
  • NP_001394520.1:p.Lys337Ter
  • NP_001394522.1:p.Lys338Ter
  • NP_001394523.1:p.Lys338Ter
  • NP_001394525.1:p.Lys338Ter
  • NP_001394526.1:p.Lys338Ter
  • NP_001394527.1:p.Lys338Ter
  • NP_001394531.1:p.Lys338Ter
  • NP_001394532.1:p.Lys338Ter
  • NP_001394534.1:p.Lys338Ter
  • NP_001394539.1:p.Lys337Ter
  • NP_001394540.1:p.Lys337Ter
  • NP_001394541.1:p.Lys337Ter
  • NP_001394542.1:p.Lys337Ter
  • NP_001394543.1:p.Lys337Ter
  • NP_001394544.1:p.Lys337Ter
  • NP_001394545.1:p.Lys338Ter
  • NP_001394546.1:p.Lys338Ter
  • NP_001394547.1:p.Lys338Ter
  • NP_001394548.1:p.Lys338Ter
  • NP_001394549.1:p.Lys338Ter
  • NP_001394550.1:p.Lys338Ter
  • NP_001394551.1:p.Lys338Ter
  • NP_001394552.1:p.Lys338Ter
  • NP_001394553.1:p.Lys338Ter
  • NP_001394554.1:p.Lys338Ter
  • NP_001394555.1:p.Lys338Ter
  • NP_001394556.1:p.Lys337Ter
  • NP_001394557.1:p.Lys337Ter
  • NP_001394558.1:p.Lys337Ter
  • NP_001394559.1:p.Lys337Ter
  • NP_001394560.1:p.Lys337Ter
  • NP_001394561.1:p.Lys337Ter
  • NP_001394562.1:p.Lys337Ter
  • NP_001394563.1:p.Lys337Ter
  • NP_001394564.1:p.Lys337Ter
  • NP_001394565.1:p.Lys337Ter
  • NP_001394566.1:p.Lys337Ter
  • NP_001394567.1:p.Lys337Ter
  • NP_001394568.1:p.Lys338Ter
  • NP_001394569.1:p.Lys338Ter
  • NP_001394570.1:p.Lys338Ter
  • NP_001394571.1:p.Lys338Ter
  • NP_001394573.1:p.Lys337Ter
  • NP_001394574.1:p.Lys337Ter
  • NP_001394575.1:p.Lys335Ter
  • NP_001394576.1:p.Lys335Ter
  • NP_001394577.1:p.Lys297Ter
  • NP_001394578.1:p.Lys296Ter
  • NP_001394581.1:p.Lys338Ter
  • NP_001394582.1:p.Lys312Ter
  • NP_001394583.1:p.Lys312Ter
  • NP_001394584.1:p.Lys312Ter
  • NP_001394585.1:p.Lys312Ter
  • NP_001394586.1:p.Lys312Ter
  • NP_001394587.1:p.Lys312Ter
  • NP_001394588.1:p.Lys311Ter
  • NP_001394589.1:p.Lys311Ter
  • NP_001394590.1:p.Lys311Ter
  • NP_001394591.1:p.Lys311Ter
  • NP_001394592.1:p.Lys312Ter
  • NP_001394593.1:p.Lys297Ter
  • NP_001394594.1:p.Lys297Ter
  • NP_001394595.1:p.Lys297Ter
  • NP_001394596.1:p.Lys297Ter
  • NP_001394597.1:p.Lys297Ter
  • NP_001394598.1:p.Lys297Ter
  • NP_001394599.1:p.Lys296Ter
  • NP_001394600.1:p.Lys296Ter
  • NP_001394601.1:p.Lys296Ter
  • NP_001394602.1:p.Lys296Ter
  • NP_001394603.1:p.Lys297Ter
  • NP_001394604.1:p.Lys297Ter
  • NP_001394605.1:p.Lys297Ter
  • NP_001394606.1:p.Lys297Ter
  • NP_001394607.1:p.Lys297Ter
  • NP_001394608.1:p.Lys297Ter
  • NP_001394609.1:p.Lys297Ter
  • NP_001394610.1:p.Lys297Ter
  • NP_001394611.1:p.Lys297Ter
  • NP_001394612.1:p.Lys297Ter
  • NP_001394613.1:p.Lys338Ter
  • NP_001394614.1:p.Lys296Ter
  • NP_001394615.1:p.Lys296Ter
  • NP_001394616.1:p.Lys296Ter
  • NP_001394617.1:p.Lys296Ter
  • NP_001394618.1:p.Lys296Ter
  • NP_001394619.1:p.Lys296Ter
  • NP_001394620.1:p.Lys296Ter
  • NP_001394621.1:p.Lys291Ter
  • NP_001394623.1:p.Lys291Ter
  • NP_001394624.1:p.Lys291Ter
  • NP_001394625.1:p.Lys291Ter
  • NP_001394626.1:p.Lys291Ter
  • NP_001394627.1:p.Lys291Ter
  • NP_001394653.1:p.Lys291Ter
  • NP_001394654.1:p.Lys291Ter
  • NP_001394655.1:p.Lys291Ter
  • NP_001394656.1:p.Lys291Ter
  • NP_001394657.1:p.Lys291Ter
  • NP_001394658.1:p.Lys291Ter
  • NP_001394659.1:p.Lys291Ter
  • NP_001394660.1:p.Lys291Ter
  • NP_001394661.1:p.Lys291Ter
  • NP_001394662.1:p.Lys291Ter
  • NP_001394663.1:p.Lys291Ter
  • NP_001394664.1:p.Lys291Ter
  • NP_001394665.1:p.Lys291Ter
  • NP_001394666.1:p.Lys291Ter
  • NP_001394667.1:p.Lys291Ter
  • NP_001394668.1:p.Lys291Ter
  • NP_001394669.1:p.Lys290Ter
  • NP_001394670.1:p.Lys290Ter
  • NP_001394671.1:p.Lys290Ter
  • NP_001394672.1:p.Lys290Ter
  • NP_001394673.1:p.Lys290Ter
  • NP_001394674.1:p.Lys290Ter
  • NP_001394675.1:p.Lys290Ter
  • NP_001394676.1:p.Lys290Ter
  • NP_001394677.1:p.Lys290Ter
  • NP_001394678.1:p.Lys290Ter
  • NP_001394679.1:p.Lys291Ter
  • NP_001394680.1:p.Lys291Ter
  • NP_001394681.1:p.Lys291Ter
  • NP_001394767.1:p.Lys290Ter
  • NP_001394768.1:p.Lys290Ter
  • NP_001394770.1:p.Lys290Ter
  • NP_001394771.1:p.Lys290Ter
  • NP_001394772.1:p.Lys290Ter
  • NP_001394773.1:p.Lys290Ter
  • NP_001394774.1:p.Lys290Ter
  • NP_001394775.1:p.Lys290Ter
  • NP_001394776.1:p.Lys290Ter
  • NP_001394777.1:p.Lys290Ter
  • NP_001394778.1:p.Lys290Ter
  • NP_001394779.1:p.Lys291Ter
  • NP_001394780.1:p.Lys291Ter
  • NP_001394781.1:p.Lys291Ter
  • NP_001394782.1:p.Lys267Ter
  • NP_001394783.1:p.Lys338Ter
  • NP_001394787.1:p.Lys338Ter
  • NP_001394788.1:p.Lys338Ter
  • NP_001394789.1:p.Lys337Ter
  • NP_001394790.1:p.Lys337Ter
  • NP_001394791.1:p.Lys271Ter
  • NP_001394792.1:p.Lys297Ter
  • NP_001394803.1:p.Lys270Ter
  • NP_001394804.1:p.Lys270Ter
  • NP_001394808.1:p.Lys268Ter
  • NP_001394810.1:p.Lys268Ter
  • NP_001394811.1:p.Lys268Ter
  • NP_001394813.1:p.Lys268Ter
  • NP_001394814.1:p.Lys268Ter
  • NP_001394815.1:p.Lys268Ter
  • NP_001394816.1:p.Lys268Ter
  • NP_001394818.1:p.Lys268Ter
  • NP_001394823.1:p.Lys267Ter
  • NP_001394824.1:p.Lys267Ter
  • NP_001394825.1:p.Lys267Ter
  • NP_001394826.1:p.Lys267Ter
  • NP_001394827.1:p.Lys267Ter
  • NP_001394828.1:p.Lys267Ter
  • NP_001394829.1:p.Lys268Ter
  • NP_001394831.1:p.Lys268Ter
  • NP_001394833.1:p.Lys268Ter
  • NP_001394835.1:p.Lys268Ter
  • NP_001394836.1:p.Lys268Ter
  • NP_001394837.1:p.Lys268Ter
  • NP_001394838.1:p.Lys268Ter
  • NP_001394839.1:p.Lys268Ter
  • NP_001394844.1:p.Lys267Ter
  • NP_001394845.1:p.Lys267Ter
  • NP_001394846.1:p.Lys267Ter
  • NP_001394847.1:p.Lys267Ter
  • NP_001394848.1:p.Lys297Ter
  • NP_001394849.1:p.Lys250Ter
  • NP_001394850.1:p.Lys250Ter
  • NP_001394851.1:p.Lys250Ter
  • NP_001394852.1:p.Lys250Ter
  • NP_001394853.1:p.Lys250Ter
  • NP_001394854.1:p.Lys250Ter
  • NP_001394855.1:p.Lys250Ter
  • NP_001394856.1:p.Lys250Ter
  • NP_001394857.1:p.Lys250Ter
  • NP_001394858.1:p.Lys250Ter
  • NP_001394859.1:p.Lys249Ter
  • NP_001394860.1:p.Lys249Ter
  • NP_001394861.1:p.Lys249Ter
  • NP_001394862.1:p.Lys250Ter
  • NP_001394863.1:p.Lys249Ter
  • NP_001394864.1:p.Lys250Ter
  • NP_001394865.1:p.Lys249Ter
  • NP_001394866.1:p.Lys297Ter
  • NP_001394867.1:p.Lys297Ter
  • NP_001394868.1:p.Lys297Ter
  • NP_001394869.1:p.Lys296Ter
  • NP_001394870.1:p.Lys296Ter
  • NP_001394871.1:p.Lys291Ter
  • NP_001394872.1:p.Lys290Ter
  • NP_001394873.1:p.Lys291Ter
  • NP_001394874.1:p.Lys291Ter
  • NP_001394875.1:p.Lys227Ter
  • NP_001394876.1:p.Lys227Ter
  • NP_001394877.1:p.Lys227Ter
  • NP_001394878.1:p.Lys227Ter
  • NP_001394879.1:p.Lys227Ter
  • NP_001394880.1:p.Lys227Ter
  • NP_001394881.1:p.Lys227Ter
  • NP_001394882.1:p.Lys227Ter
  • NP_001394883.1:p.Lys226Ter
  • NP_001394884.1:p.Lys226Ter
  • NP_001394885.1:p.Lys226Ter
  • NP_001394886.1:p.Lys227Ter
  • NP_001394887.1:p.Lys226Ter
  • NP_001394888.1:p.Lys211Ter
  • NP_001394889.1:p.Lys211Ter
  • NP_001394891.1:p.Lys210Ter
  • NP_001394892.1:p.Lys211Ter
  • NP_001394893.1:p.Lys290Ter
  • NP_001394894.1:p.Lys170Ter
  • NP_001394895.1:p.Lys42Ter
  • NP_001394896.1:p.Lys42Ter
  • NP_009225.1:p.Lys338Ter
  • NP_009225.1:p.Lys338Ter
  • NP_009228.2:p.Lys291Ter
  • NP_009231.2:p.Lys338Ter
  • LRG_292t1:c.1012A>T
  • LRG_292:g.123465A>T
  • LRG_292p1:p.Lys338Ter
  • NC_000017.10:g.41246536T>A
  • NM_007294.3:c.1012A>T
  • NR_027676.1:n.1148A>T
  • p.K338*
Protein change:
K170*
Links:
dbSNP: rs397508826
NCBI 1000 Genomes Browser:
rs397508826
Molecular consequence:
  • NM_001407968.1:c.787+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.787+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+222A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.670+1327A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.670+1327A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.670+1327A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.667+1327A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.670+1327A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.670+1327A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.667+1327A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.667+1327A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-3487A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-3487A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.460+1327A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.460+1327A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-3487A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+225A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.799A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407581.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407582.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407583.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407585.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407587.1:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407590.1:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407591.1:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407593.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407594.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407596.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407597.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407598.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407602.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407603.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407605.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407610.1:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407611.1:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407612.1:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407613.1:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407614.1:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407615.1:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407616.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407617.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407618.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407619.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407620.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407621.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407622.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407623.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407624.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407625.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407626.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407627.1:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407628.1:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407629.1:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407630.1:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407631.1:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407632.1:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407633.1:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407634.1:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407635.1:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407636.1:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407637.1:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407638.1:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407639.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407640.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407641.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407642.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407644.1:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407645.1:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407646.1:c.1003A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407647.1:c.1003A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407648.1:c.889A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407649.1:c.886A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407652.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407653.1:c.934A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407654.1:c.934A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407655.1:c.934A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407656.1:c.934A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407657.1:c.934A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407658.1:c.934A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407659.1:c.931A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407660.1:c.931A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407661.1:c.931A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407662.1:c.931A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407663.1:c.934A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407664.1:c.889A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407665.1:c.889A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407666.1:c.889A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407667.1:c.889A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407668.1:c.889A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407669.1:c.889A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407670.1:c.886A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407671.1:c.886A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407672.1:c.886A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407673.1:c.886A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407674.1:c.889A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407675.1:c.889A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407676.1:c.889A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407677.1:c.889A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407678.1:c.889A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407679.1:c.889A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407680.1:c.889A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407681.1:c.889A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407682.1:c.889A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407683.1:c.889A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407684.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407685.1:c.886A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407686.1:c.886A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407687.1:c.886A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407688.1:c.886A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407689.1:c.886A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407690.1:c.886A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407691.1:c.886A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407692.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407694.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407695.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407696.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407697.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407698.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407724.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407725.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407726.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407727.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407728.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407729.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407730.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407731.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407732.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407733.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407734.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407735.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407736.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407737.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407738.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407739.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407740.1:c.868A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407741.1:c.868A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407742.1:c.868A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407743.1:c.868A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407744.1:c.868A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407745.1:c.868A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407746.1:c.868A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407747.1:c.868A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407748.1:c.868A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407749.1:c.868A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407750.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407751.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407752.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407838.1:c.868A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407839.1:c.868A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407841.1:c.868A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407842.1:c.868A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407843.1:c.868A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407844.1:c.868A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407845.1:c.868A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407846.1:c.868A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407847.1:c.868A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407848.1:c.868A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407849.1:c.868A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407850.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407851.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407852.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407853.1:c.799A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407854.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407858.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407859.1:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407860.1:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407861.1:c.1009A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407862.1:c.811A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407863.1:c.889A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407874.1:c.808A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407875.1:c.808A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407879.1:c.802A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407881.1:c.802A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407882.1:c.802A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407884.1:c.802A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407885.1:c.802A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407886.1:c.802A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407887.1:c.802A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407889.1:c.802A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407894.1:c.799A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407895.1:c.799A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407896.1:c.799A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407897.1:c.799A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407898.1:c.799A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407899.1:c.799A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407900.1:c.802A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407902.1:c.802A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407904.1:c.802A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407906.1:c.802A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407907.1:c.802A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407908.1:c.802A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407909.1:c.802A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407910.1:c.802A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407915.1:c.799A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407916.1:c.799A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407917.1:c.799A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407918.1:c.799A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407919.1:c.889A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407920.1:c.748A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407921.1:c.748A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407922.1:c.748A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407923.1:c.748A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407924.1:c.748A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407925.1:c.748A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407926.1:c.748A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407927.1:c.748A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407928.1:c.748A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407929.1:c.748A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407930.1:c.745A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407931.1:c.745A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407932.1:c.745A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407933.1:c.748A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407934.1:c.745A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407935.1:c.748A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407936.1:c.745A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407937.1:c.889A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407938.1:c.889A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407939.1:c.889A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407940.1:c.886A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407941.1:c.886A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407942.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407943.1:c.868A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407944.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407945.1:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407946.1:c.679A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407947.1:c.679A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407948.1:c.679A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407949.1:c.679A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407950.1:c.679A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407951.1:c.679A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407952.1:c.679A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407953.1:c.679A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407954.1:c.676A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407955.1:c.676A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407956.1:c.676A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407957.1:c.679A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407958.1:c.676A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407959.1:c.631A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407960.1:c.631A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407962.1:c.628A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407963.1:c.631A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407964.1:c.868A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407965.1:c.508A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407966.1:c.124A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001407967.1:c.124A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007294.4:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007297.4:c.871A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007300.4:c.1012A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005625996Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		pathogenic
(Jan 15, 2024) 		unknownclinical testing

PubMed (9)
[See all records that cite these PMIDs]

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Summary from all submissions

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

Citations

PubMed

Genetic diagnosis of familial breast cancer using clonal sequencing.

Morgan JE, Carr IM, Sheridan E, Chu CE, Hayward B, Camm N, Lindsay HA, Mattocks CJ, Markham AF, Bonthron DT, Taylor GR.

Hum Mutat. 2010 Apr;31(4):484-91. doi: 10.1002/humu.21216.

PubMed [citation]
PMID:
20127978

Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population.

Alharbi KK, Aldahmesh MA, Spanakis E, Haddad L, Whittall RA, Chen XH, Rassoulian H, Smith MJ, Sillibourne J, Ball NJ, Graham NJ, Briggs PJ, Simpson IA, Phillips DI, Lawlor DA, Ye S, Humphries SE, Cooper C, Smith GD, Ebrahim S, Eccles DM, Day IN.

Genome Res. 2005 Jul;15(7):967-77.

PubMed [citation]
PMID:
15998910
PMCID:
PMC1172041
See all PubMed Citations (9)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV005625996.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)

Description

The BRCA1 c.1012A>T (p.Lys338*) variant causes the premature termination of BRCA1 protein synthesis. This variant has been reported in the published literature in multiple individuals with breast and/or ovarian cancer (PMIDs: 36169650 (2022), 33654310 (2021), 30972954 (2019), 30078507 (2018), 28176296 (2017)), and observed in screening studies of individuals with BRCA1 and BRCA2 pathogenic variants (PMID: 29446198 (2018), 20127978 (2010), 15998910 (2005)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic.

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

Last Updated: May 16, 2025