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NM_007294.4(BRCA1):c.3247A>G (p.Met1083Val) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 5, 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:
RCV003995341.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.3247A>G (p.Met1083Val)]

NM_007294.4(BRCA1):c.3247A>G (p.Met1083Val)

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.3247A>G (p.Met1083Val)
HGVS:
  • NC_000017.11:g.43092284T>C
  • NG_005905.2:g.125700A>G
  • NG_087068.1:g.1266T>C
  • NM_001407571.1:c.3034A>G
  • NM_001407581.1:c.3247A>G
  • NM_001407582.1:c.3247A>G
  • NM_001407583.1:c.3247A>G
  • NM_001407585.1:c.3247A>G
  • NM_001407587.1:c.3244A>G
  • NM_001407590.1:c.3244A>G
  • NM_001407591.1:c.3244A>G
  • NM_001407593.1:c.3247A>G
  • NM_001407594.1:c.3247A>G
  • NM_001407596.1:c.3247A>G
  • NM_001407597.1:c.3247A>G
  • NM_001407598.1:c.3247A>G
  • NM_001407602.1:c.3247A>G
  • NM_001407603.1:c.3247A>G
  • NM_001407605.1:c.3247A>G
  • NM_001407610.1:c.3244A>G
  • NM_001407611.1:c.3244A>G
  • NM_001407612.1:c.3244A>G
  • NM_001407613.1:c.3244A>G
  • NM_001407614.1:c.3244A>G
  • NM_001407615.1:c.3244A>G
  • NM_001407616.1:c.3247A>G
  • NM_001407617.1:c.3247A>G
  • NM_001407618.1:c.3247A>G
  • NM_001407619.1:c.3247A>G
  • NM_001407620.1:c.3247A>G
  • NM_001407621.1:c.3247A>G
  • NM_001407622.1:c.3247A>G
  • NM_001407623.1:c.3247A>G
  • NM_001407624.1:c.3247A>G
  • NM_001407625.1:c.3247A>G
  • NM_001407626.1:c.3247A>G
  • NM_001407627.1:c.3244A>G
  • NM_001407628.1:c.3244A>G
  • NM_001407629.1:c.3244A>G
  • NM_001407630.1:c.3244A>G
  • NM_001407631.1:c.3244A>G
  • NM_001407632.1:c.3244A>G
  • NM_001407633.1:c.3244A>G
  • NM_001407634.1:c.3244A>G
  • NM_001407635.1:c.3244A>G
  • NM_001407636.1:c.3244A>G
  • NM_001407637.1:c.3244A>G
  • NM_001407638.1:c.3244A>G
  • NM_001407639.1:c.3247A>G
  • NM_001407640.1:c.3247A>G
  • NM_001407641.1:c.3247A>G
  • NM_001407642.1:c.3247A>G
  • NM_001407644.1:c.3244A>G
  • NM_001407645.1:c.3244A>G
  • NM_001407646.1:c.3238A>G
  • NM_001407647.1:c.3238A>G
  • NM_001407648.1:c.3124A>G
  • NM_001407649.1:c.3121A>G
  • NM_001407652.1:c.3247A>G
  • NM_001407653.1:c.3169A>G
  • NM_001407654.1:c.3169A>G
  • NM_001407655.1:c.3169A>G
  • NM_001407656.1:c.3169A>G
  • NM_001407657.1:c.3169A>G
  • NM_001407658.1:c.3169A>G
  • NM_001407659.1:c.3166A>G
  • NM_001407660.1:c.3166A>G
  • NM_001407661.1:c.3166A>G
  • NM_001407662.1:c.3166A>G
  • NM_001407663.1:c.3169A>G
  • NM_001407664.1:c.3124A>G
  • NM_001407665.1:c.3124A>G
  • NM_001407666.1:c.3124A>G
  • NM_001407667.1:c.3124A>G
  • NM_001407668.1:c.3124A>G
  • NM_001407669.1:c.3124A>G
  • NM_001407670.1:c.3121A>G
  • NM_001407671.1:c.3121A>G
  • NM_001407672.1:c.3121A>G
  • NM_001407673.1:c.3121A>G
  • NM_001407674.1:c.3124A>G
  • NM_001407675.1:c.3124A>G
  • NM_001407676.1:c.3124A>G
  • NM_001407677.1:c.3124A>G
  • NM_001407678.1:c.3124A>G
  • NM_001407679.1:c.3124A>G
  • NM_001407680.1:c.3124A>G
  • NM_001407681.1:c.3124A>G
  • NM_001407682.1:c.3124A>G
  • NM_001407683.1:c.3124A>G
  • NM_001407684.1:c.3247A>G
  • NM_001407685.1:c.3121A>G
  • NM_001407686.1:c.3121A>G
  • NM_001407687.1:c.3121A>G
  • NM_001407688.1:c.3121A>G
  • NM_001407689.1:c.3121A>G
  • NM_001407690.1:c.3121A>G
  • NM_001407691.1:c.3121A>G
  • NM_001407692.1:c.3106A>G
  • NM_001407694.1:c.3106A>G
  • NM_001407695.1:c.3106A>G
  • NM_001407696.1:c.3106A>G
  • NM_001407697.1:c.3106A>G
  • NM_001407698.1:c.3106A>G
  • NM_001407724.1:c.3106A>G
  • NM_001407725.1:c.3106A>G
  • NM_001407726.1:c.3106A>G
  • NM_001407727.1:c.3106A>G
  • NM_001407728.1:c.3106A>G
  • NM_001407729.1:c.3106A>G
  • NM_001407730.1:c.3106A>G
  • NM_001407731.1:c.3106A>G
  • NM_001407732.1:c.3106A>G
  • NM_001407733.1:c.3106A>G
  • NM_001407734.1:c.3106A>G
  • NM_001407735.1:c.3106A>G
  • NM_001407736.1:c.3106A>G
  • NM_001407737.1:c.3106A>G
  • NM_001407738.1:c.3106A>G
  • NM_001407739.1:c.3106A>G
  • NM_001407740.1:c.3103A>G
  • NM_001407741.1:c.3103A>G
  • NM_001407742.1:c.3103A>G
  • NM_001407743.1:c.3103A>G
  • NM_001407744.1:c.3103A>G
  • NM_001407745.1:c.3103A>G
  • NM_001407746.1:c.3103A>G
  • NM_001407747.1:c.3103A>G
  • NM_001407748.1:c.3103A>G
  • NM_001407749.1:c.3103A>G
  • NM_001407750.1:c.3106A>G
  • NM_001407751.1:c.3106A>G
  • NM_001407752.1:c.3106A>G
  • NM_001407838.1:c.3103A>G
  • NM_001407839.1:c.3103A>G
  • NM_001407841.1:c.3103A>G
  • NM_001407842.1:c.3103A>G
  • NM_001407843.1:c.3103A>G
  • NM_001407844.1:c.3103A>G
  • NM_001407845.1:c.3103A>G
  • NM_001407846.1:c.3103A>G
  • NM_001407847.1:c.3103A>G
  • NM_001407848.1:c.3103A>G
  • NM_001407849.1:c.3103A>G
  • NM_001407850.1:c.3106A>G
  • NM_001407851.1:c.3106A>G
  • NM_001407852.1:c.3106A>G
  • NM_001407853.1:c.3034A>G
  • NM_001407854.1:c.3247A>G
  • NM_001407858.1:c.3247A>G
  • NM_001407859.1:c.3247A>G
  • NM_001407860.1:c.3244A>G
  • NM_001407861.1:c.3244A>G
  • NM_001407862.1:c.3046A>G
  • NM_001407863.1:c.3124A>G
  • NM_001407874.1:c.3043A>G
  • NM_001407875.1:c.3043A>G
  • NM_001407879.1:c.3037A>G
  • NM_001407881.1:c.3037A>G
  • NM_001407882.1:c.3037A>G
  • NM_001407884.1:c.3037A>G
  • NM_001407885.1:c.3037A>G
  • NM_001407886.1:c.3037A>G
  • NM_001407887.1:c.3037A>G
  • NM_001407889.1:c.3037A>G
  • NM_001407894.1:c.3034A>G
  • NM_001407895.1:c.3034A>G
  • NM_001407896.1:c.3034A>G
  • NM_001407897.1:c.3034A>G
  • NM_001407898.1:c.3034A>G
  • NM_001407899.1:c.3034A>G
  • NM_001407900.1:c.3037A>G
  • NM_001407902.1:c.3037A>G
  • NM_001407904.1:c.3037A>G
  • NM_001407906.1:c.3037A>G
  • NM_001407907.1:c.3037A>G
  • NM_001407908.1:c.3037A>G
  • NM_001407909.1:c.3037A>G
  • NM_001407910.1:c.3037A>G
  • NM_001407915.1:c.3034A>G
  • NM_001407916.1:c.3034A>G
  • NM_001407917.1:c.3034A>G
  • NM_001407918.1:c.3034A>G
  • NM_001407919.1:c.3124A>G
  • NM_001407920.1:c.2983A>G
  • NM_001407921.1:c.2983A>G
  • NM_001407922.1:c.2983A>G
  • NM_001407923.1:c.2983A>G
  • NM_001407924.1:c.2983A>G
  • NM_001407925.1:c.2983A>G
  • NM_001407926.1:c.2983A>G
  • NM_001407927.1:c.2983A>G
  • NM_001407928.1:c.2983A>G
  • NM_001407929.1:c.2983A>G
  • NM_001407930.1:c.2980A>G
  • NM_001407931.1:c.2980A>G
  • NM_001407932.1:c.2980A>G
  • NM_001407933.1:c.2983A>G
  • NM_001407934.1:c.2980A>G
  • NM_001407935.1:c.2983A>G
  • NM_001407936.1:c.2980A>G
  • NM_001407937.1:c.3124A>G
  • NM_001407938.1:c.3124A>G
  • NM_001407939.1:c.3124A>G
  • NM_001407940.1:c.3121A>G
  • NM_001407941.1:c.3121A>G
  • NM_001407942.1:c.3106A>G
  • NM_001407943.1:c.3103A>G
  • NM_001407944.1:c.3106A>G
  • NM_001407945.1:c.3106A>G
  • NM_001407946.1:c.2914A>G
  • NM_001407947.1:c.2914A>G
  • NM_001407948.1:c.2914A>G
  • NM_001407949.1:c.2914A>G
  • NM_001407950.1:c.2914A>G
  • NM_001407951.1:c.2914A>G
  • NM_001407952.1:c.2914A>G
  • NM_001407953.1:c.2914A>G
  • NM_001407954.1:c.2911A>G
  • NM_001407955.1:c.2911A>G
  • NM_001407956.1:c.2911A>G
  • NM_001407957.1:c.2914A>G
  • NM_001407958.1:c.2911A>G
  • NM_001407959.1:c.2866A>G
  • NM_001407960.1:c.2866A>G
  • NM_001407962.1:c.2863A>G
  • NM_001407963.1:c.2866A>G
  • NM_001407964.1:c.3103A>G
  • NM_001407965.1:c.2743A>G
  • NM_001407966.1:c.2359A>G
  • NM_001407967.1:c.2359A>G
  • NM_001407968.1:c.788-145A>G
  • NM_001407969.1:c.788-145A>G
  • NM_001407970.1:c.788-1252A>G
  • NM_001407971.1:c.788-1252A>G
  • NM_001407972.1:c.785-1252A>G
  • NM_001407973.1:c.788-1252A>G
  • NM_001407974.1:c.788-1252A>G
  • NM_001407975.1:c.788-1252A>G
  • NM_001407976.1:c.788-1252A>G
  • NM_001407977.1:c.788-1252A>G
  • NM_001407978.1:c.788-1252A>G
  • NM_001407979.1:c.788-1252A>G
  • NM_001407980.1:c.788-1252A>G
  • NM_001407981.1:c.788-1252A>G
  • NM_001407982.1:c.788-1252A>G
  • NM_001407983.1:c.788-1252A>G
  • NM_001407984.1:c.785-1252A>G
  • NM_001407985.1:c.785-1252A>G
  • NM_001407986.1:c.785-1252A>G
  • NM_001407990.1:c.788-1252A>G
  • NM_001407991.1:c.785-1252A>G
  • NM_001407992.1:c.785-1252A>G
  • NM_001407993.1:c.788-1252A>G
  • NM_001408392.1:c.785-1252A>G
  • NM_001408396.1:c.785-1252A>G
  • NM_001408397.1:c.785-1252A>G
  • NM_001408398.1:c.785-1252A>G
  • NM_001408399.1:c.785-1252A>G
  • NM_001408400.1:c.785-1252A>G
  • NM_001408401.1:c.785-1252A>G
  • NM_001408402.1:c.785-1252A>G
  • NM_001408403.1:c.788-1252A>G
  • NM_001408404.1:c.788-1252A>G
  • NM_001408406.1:c.791-1261A>G
  • NM_001408407.1:c.785-1252A>G
  • NM_001408408.1:c.779-1252A>G
  • NM_001408409.1:c.710-1252A>G
  • NM_001408410.1:c.647-1252A>G
  • NM_001408411.1:c.710-1252A>G
  • NM_001408412.1:c.710-1252A>G
  • NM_001408413.1:c.707-1252A>G
  • NM_001408414.1:c.710-1252A>G
  • NM_001408415.1:c.710-1252A>G
  • NM_001408416.1:c.707-1252A>G
  • NM_001408418.1:c.671-1252A>G
  • NM_001408419.1:c.671-1252A>G
  • NM_001408420.1:c.671-1252A>G
  • NM_001408421.1:c.668-1252A>G
  • NM_001408422.1:c.671-1252A>G
  • NM_001408423.1:c.671-1252A>G
  • NM_001408424.1:c.668-1252A>G
  • NM_001408425.1:c.665-1252A>G
  • NM_001408426.1:c.665-1252A>G
  • NM_001408427.1:c.665-1252A>G
  • NM_001408428.1:c.665-1252A>G
  • NM_001408429.1:c.665-1252A>G
  • NM_001408430.1:c.665-1252A>G
  • NM_001408431.1:c.668-1252A>G
  • NM_001408432.1:c.662-1252A>G
  • NM_001408433.1:c.662-1252A>G
  • NM_001408434.1:c.662-1252A>G
  • NM_001408435.1:c.662-1252A>G
  • NM_001408436.1:c.665-1252A>G
  • NM_001408437.1:c.665-1252A>G
  • NM_001408438.1:c.665-1252A>G
  • NM_001408439.1:c.665-1252A>G
  • NM_001408440.1:c.665-1252A>G
  • NM_001408441.1:c.665-1252A>G
  • NM_001408442.1:c.665-1252A>G
  • NM_001408443.1:c.665-1252A>G
  • NM_001408444.1:c.665-1252A>G
  • NM_001408445.1:c.662-1252A>G
  • NM_001408446.1:c.662-1252A>G
  • NM_001408447.1:c.662-1252A>G
  • NM_001408448.1:c.662-1252A>G
  • NM_001408450.1:c.662-1252A>G
  • NM_001408451.1:c.653-1252A>G
  • NM_001408452.1:c.647-1252A>G
  • NM_001408453.1:c.647-1252A>G
  • NM_001408454.1:c.647-1252A>G
  • NM_001408455.1:c.647-1252A>G
  • NM_001408456.1:c.647-1252A>G
  • NM_001408457.1:c.647-1252A>G
  • NM_001408458.1:c.647-1252A>G
  • NM_001408459.1:c.647-1252A>G
  • NM_001408460.1:c.647-1252A>G
  • NM_001408461.1:c.647-1252A>G
  • NM_001408462.1:c.644-1252A>G
  • NM_001408463.1:c.644-1252A>G
  • NM_001408464.1:c.644-1252A>G
  • NM_001408465.1:c.644-1252A>G
  • NM_001408466.1:c.647-1252A>G
  • NM_001408467.1:c.647-1252A>G
  • NM_001408468.1:c.644-1252A>G
  • NM_001408469.1:c.647-1252A>G
  • NM_001408470.1:c.644-1252A>G
  • NM_001408472.1:c.788-1252A>G
  • NM_001408473.1:c.785-1252A>G
  • NM_001408474.1:c.587-1252A>G
  • NM_001408475.1:c.584-1252A>G
  • NM_001408476.1:c.587-1252A>G
  • NM_001408478.1:c.578-1252A>G
  • NM_001408479.1:c.578-1252A>G
  • NM_001408480.1:c.578-1252A>G
  • NM_001408481.1:c.578-1252A>G
  • NM_001408482.1:c.578-1252A>G
  • NM_001408483.1:c.578-1252A>G
  • NM_001408484.1:c.578-1252A>G
  • NM_001408485.1:c.578-1252A>G
  • NM_001408489.1:c.578-1252A>G
  • NM_001408490.1:c.575-1252A>G
  • NM_001408491.1:c.575-1252A>G
  • NM_001408492.1:c.578-1252A>G
  • NM_001408493.1:c.575-1252A>G
  • NM_001408494.1:c.548-1252A>G
  • NM_001408495.1:c.545-1252A>G
  • NM_001408496.1:c.524-1252A>G
  • NM_001408497.1:c.524-1252A>G
  • NM_001408498.1:c.524-1252A>G
  • NM_001408499.1:c.524-1252A>G
  • NM_001408500.1:c.524-1252A>G
  • NM_001408501.1:c.524-1252A>G
  • NM_001408502.1:c.455-1252A>G
  • NM_001408503.1:c.521-1252A>G
  • NM_001408504.1:c.521-1252A>G
  • NM_001408505.1:c.521-1252A>G
  • NM_001408506.1:c.461-1252A>G
  • NM_001408507.1:c.461-1252A>G
  • NM_001408508.1:c.452-1252A>G
  • NM_001408509.1:c.452-1252A>G
  • NM_001408510.1:c.407-1252A>G
  • NM_001408511.1:c.404-1252A>G
  • NM_001408512.1:c.284-1252A>G
  • NM_001408513.1:c.578-1252A>G
  • NM_001408514.1:c.578-1252A>G
  • NM_007294.4:c.3247A>GMANE SELECT
  • NM_007297.4:c.3106A>G
  • NM_007298.4:c.788-1252A>G
  • NM_007299.4:c.788-1252A>G
  • NM_007300.4:c.3247A>G
  • NP_001394500.1:p.Met1012Val
  • NP_001394510.1:p.Met1083Val
  • NP_001394511.1:p.Met1083Val
  • NP_001394512.1:p.Met1083Val
  • NP_001394514.1:p.Met1083Val
  • NP_001394516.1:p.Met1082Val
  • NP_001394519.1:p.Met1082Val
  • NP_001394520.1:p.Met1082Val
  • NP_001394522.1:p.Met1083Val
  • NP_001394523.1:p.Met1083Val
  • NP_001394525.1:p.Met1083Val
  • NP_001394526.1:p.Met1083Val
  • NP_001394527.1:p.Met1083Val
  • NP_001394531.1:p.Met1083Val
  • NP_001394532.1:p.Met1083Val
  • NP_001394534.1:p.Met1083Val
  • NP_001394539.1:p.Met1082Val
  • NP_001394540.1:p.Met1082Val
  • NP_001394541.1:p.Met1082Val
  • NP_001394542.1:p.Met1082Val
  • NP_001394543.1:p.Met1082Val
  • NP_001394544.1:p.Met1082Val
  • NP_001394545.1:p.Met1083Val
  • NP_001394546.1:p.Met1083Val
  • NP_001394547.1:p.Met1083Val
  • NP_001394548.1:p.Met1083Val
  • NP_001394549.1:p.Met1083Val
  • NP_001394550.1:p.Met1083Val
  • NP_001394551.1:p.Met1083Val
  • NP_001394552.1:p.Met1083Val
  • NP_001394553.1:p.Met1083Val
  • NP_001394554.1:p.Met1083Val
  • NP_001394555.1:p.Met1083Val
  • NP_001394556.1:p.Met1082Val
  • NP_001394557.1:p.Met1082Val
  • NP_001394558.1:p.Met1082Val
  • NP_001394559.1:p.Met1082Val
  • NP_001394560.1:p.Met1082Val
  • NP_001394561.1:p.Met1082Val
  • NP_001394562.1:p.Met1082Val
  • NP_001394563.1:p.Met1082Val
  • NP_001394564.1:p.Met1082Val
  • NP_001394565.1:p.Met1082Val
  • NP_001394566.1:p.Met1082Val
  • NP_001394567.1:p.Met1082Val
  • NP_001394568.1:p.Met1083Val
  • NP_001394569.1:p.Met1083Val
  • NP_001394570.1:p.Met1083Val
  • NP_001394571.1:p.Met1083Val
  • NP_001394573.1:p.Met1082Val
  • NP_001394574.1:p.Met1082Val
  • NP_001394575.1:p.Met1080Val
  • NP_001394576.1:p.Met1080Val
  • NP_001394577.1:p.Met1042Val
  • NP_001394578.1:p.Met1041Val
  • NP_001394581.1:p.Met1083Val
  • NP_001394582.1:p.Met1057Val
  • NP_001394583.1:p.Met1057Val
  • NP_001394584.1:p.Met1057Val
  • NP_001394585.1:p.Met1057Val
  • NP_001394586.1:p.Met1057Val
  • NP_001394587.1:p.Met1057Val
  • NP_001394588.1:p.Met1056Val
  • NP_001394589.1:p.Met1056Val
  • NP_001394590.1:p.Met1056Val
  • NP_001394591.1:p.Met1056Val
  • NP_001394592.1:p.Met1057Val
  • NP_001394593.1:p.Met1042Val
  • NP_001394594.1:p.Met1042Val
  • NP_001394595.1:p.Met1042Val
  • NP_001394596.1:p.Met1042Val
  • NP_001394597.1:p.Met1042Val
  • NP_001394598.1:p.Met1042Val
  • NP_001394599.1:p.Met1041Val
  • NP_001394600.1:p.Met1041Val
  • NP_001394601.1:p.Met1041Val
  • NP_001394602.1:p.Met1041Val
  • NP_001394603.1:p.Met1042Val
  • NP_001394604.1:p.Met1042Val
  • NP_001394605.1:p.Met1042Val
  • NP_001394606.1:p.Met1042Val
  • NP_001394607.1:p.Met1042Val
  • NP_001394608.1:p.Met1042Val
  • NP_001394609.1:p.Met1042Val
  • NP_001394610.1:p.Met1042Val
  • NP_001394611.1:p.Met1042Val
  • NP_001394612.1:p.Met1042Val
  • NP_001394613.1:p.Met1083Val
  • NP_001394614.1:p.Met1041Val
  • NP_001394615.1:p.Met1041Val
  • NP_001394616.1:p.Met1041Val
  • NP_001394617.1:p.Met1041Val
  • NP_001394618.1:p.Met1041Val
  • NP_001394619.1:p.Met1041Val
  • NP_001394620.1:p.Met1041Val
  • NP_001394621.1:p.Met1036Val
  • NP_001394623.1:p.Met1036Val
  • NP_001394624.1:p.Met1036Val
  • NP_001394625.1:p.Met1036Val
  • NP_001394626.1:p.Met1036Val
  • NP_001394627.1:p.Met1036Val
  • NP_001394653.1:p.Met1036Val
  • NP_001394654.1:p.Met1036Val
  • NP_001394655.1:p.Met1036Val
  • NP_001394656.1:p.Met1036Val
  • NP_001394657.1:p.Met1036Val
  • NP_001394658.1:p.Met1036Val
  • NP_001394659.1:p.Met1036Val
  • NP_001394660.1:p.Met1036Val
  • NP_001394661.1:p.Met1036Val
  • NP_001394662.1:p.Met1036Val
  • NP_001394663.1:p.Met1036Val
  • NP_001394664.1:p.Met1036Val
  • NP_001394665.1:p.Met1036Val
  • NP_001394666.1:p.Met1036Val
  • NP_001394667.1:p.Met1036Val
  • NP_001394668.1:p.Met1036Val
  • NP_001394669.1:p.Met1035Val
  • NP_001394670.1:p.Met1035Val
  • NP_001394671.1:p.Met1035Val
  • NP_001394672.1:p.Met1035Val
  • NP_001394673.1:p.Met1035Val
  • NP_001394674.1:p.Met1035Val
  • NP_001394675.1:p.Met1035Val
  • NP_001394676.1:p.Met1035Val
  • NP_001394677.1:p.Met1035Val
  • NP_001394678.1:p.Met1035Val
  • NP_001394679.1:p.Met1036Val
  • NP_001394680.1:p.Met1036Val
  • NP_001394681.1:p.Met1036Val
  • NP_001394767.1:p.Met1035Val
  • NP_001394768.1:p.Met1035Val
  • NP_001394770.1:p.Met1035Val
  • NP_001394771.1:p.Met1035Val
  • NP_001394772.1:p.Met1035Val
  • NP_001394773.1:p.Met1035Val
  • NP_001394774.1:p.Met1035Val
  • NP_001394775.1:p.Met1035Val
  • NP_001394776.1:p.Met1035Val
  • NP_001394777.1:p.Met1035Val
  • NP_001394778.1:p.Met1035Val
  • NP_001394779.1:p.Met1036Val
  • NP_001394780.1:p.Met1036Val
  • NP_001394781.1:p.Met1036Val
  • NP_001394782.1:p.Met1012Val
  • NP_001394783.1:p.Met1083Val
  • NP_001394787.1:p.Met1083Val
  • NP_001394788.1:p.Met1083Val
  • NP_001394789.1:p.Met1082Val
  • NP_001394790.1:p.Met1082Val
  • NP_001394791.1:p.Met1016Val
  • NP_001394792.1:p.Met1042Val
  • NP_001394803.1:p.Met1015Val
  • NP_001394804.1:p.Met1015Val
  • NP_001394808.1:p.Met1013Val
  • NP_001394810.1:p.Met1013Val
  • NP_001394811.1:p.Met1013Val
  • NP_001394813.1:p.Met1013Val
  • NP_001394814.1:p.Met1013Val
  • NP_001394815.1:p.Met1013Val
  • NP_001394816.1:p.Met1013Val
  • NP_001394818.1:p.Met1013Val
  • NP_001394823.1:p.Met1012Val
  • NP_001394824.1:p.Met1012Val
  • NP_001394825.1:p.Met1012Val
  • NP_001394826.1:p.Met1012Val
  • NP_001394827.1:p.Met1012Val
  • NP_001394828.1:p.Met1012Val
  • NP_001394829.1:p.Met1013Val
  • NP_001394831.1:p.Met1013Val
  • NP_001394833.1:p.Met1013Val
  • NP_001394835.1:p.Met1013Val
  • NP_001394836.1:p.Met1013Val
  • NP_001394837.1:p.Met1013Val
  • NP_001394838.1:p.Met1013Val
  • NP_001394839.1:p.Met1013Val
  • NP_001394844.1:p.Met1012Val
  • NP_001394845.1:p.Met1012Val
  • NP_001394846.1:p.Met1012Val
  • NP_001394847.1:p.Met1012Val
  • NP_001394848.1:p.Met1042Val
  • NP_001394849.1:p.Met995Val
  • NP_001394850.1:p.Met995Val
  • NP_001394851.1:p.Met995Val
  • NP_001394852.1:p.Met995Val
  • NP_001394853.1:p.Met995Val
  • NP_001394854.1:p.Met995Val
  • NP_001394855.1:p.Met995Val
  • NP_001394856.1:p.Met995Val
  • NP_001394857.1:p.Met995Val
  • NP_001394858.1:p.Met995Val
  • NP_001394859.1:p.Met994Val
  • NP_001394860.1:p.Met994Val
  • NP_001394861.1:p.Met994Val
  • NP_001394862.1:p.Met995Val
  • NP_001394863.1:p.Met994Val
  • NP_001394864.1:p.Met995Val
  • NP_001394865.1:p.Met994Val
  • NP_001394866.1:p.Met1042Val
  • NP_001394867.1:p.Met1042Val
  • NP_001394868.1:p.Met1042Val
  • NP_001394869.1:p.Met1041Val
  • NP_001394870.1:p.Met1041Val
  • NP_001394871.1:p.Met1036Val
  • NP_001394872.1:p.Met1035Val
  • NP_001394873.1:p.Met1036Val
  • NP_001394874.1:p.Met1036Val
  • NP_001394875.1:p.Met972Val
  • NP_001394876.1:p.Met972Val
  • NP_001394877.1:p.Met972Val
  • NP_001394878.1:p.Met972Val
  • NP_001394879.1:p.Met972Val
  • NP_001394880.1:p.Met972Val
  • NP_001394881.1:p.Met972Val
  • NP_001394882.1:p.Met972Val
  • NP_001394883.1:p.Met971Val
  • NP_001394884.1:p.Met971Val
  • NP_001394885.1:p.Met971Val
  • NP_001394886.1:p.Met972Val
  • NP_001394887.1:p.Met971Val
  • NP_001394888.1:p.Met956Val
  • NP_001394889.1:p.Met956Val
  • NP_001394891.1:p.Met955Val
  • NP_001394892.1:p.Met956Val
  • NP_001394893.1:p.Met1035Val
  • NP_001394894.1:p.Met915Val
  • NP_001394895.1:p.Met787Val
  • NP_001394896.1:p.Met787Val
  • NP_009225.1:p.Met1083Val
  • NP_009225.1:p.Met1083Val
  • NP_009228.2:p.Met1036Val
  • NP_009231.2:p.Met1083Val
  • LRG_292t1:c.3247A>G
  • LRG_292:g.125700A>G
  • LRG_292p1:p.Met1083Val
  • NC_000017.10:g.41244301T>C
  • NM_007294.3:c.3247A>G
  • NR_027676.1:n.3383A>G
  • p.M1083V
Protein change:
M1012V
Links:
dbSNP: rs397507213
NCBI 1000 Genomes Browser:
rs397507213
Molecular consequence:
  • NM_001407968.1:c.788-145A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-145A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1261A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1252A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3034A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.3244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.3244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.3244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.3244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.3244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.3244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.3244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.3244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.3244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.3244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.3244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.3244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.3244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.3244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.3244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.3244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.3244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.3244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.3244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.3244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.3244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.3244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.3244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.3238A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.3238A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.3124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.3121A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.3169A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.3169A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.3169A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.3169A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.3169A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.3169A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.3166A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.3166A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.3166A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.3166A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.3169A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.3124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.3124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.3124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.3124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.3124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.3124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.3121A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.3121A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.3121A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.3121A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.3124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.3124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.3124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.3124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.3124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.3124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.3124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.3124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.3124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.3124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.3121A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.3121A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.3121A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.3121A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.3121A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.3121A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.3121A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.3103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.3103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.3103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.3103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.3103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.3103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.3103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.3103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.3103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.3103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.3103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.3103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.3103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.3103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.3103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.3103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.3103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.3103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.3103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.3103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.3103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.3034A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.3244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.3244A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.3046A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.3124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.3043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.3043A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.3037A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.3037A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.3037A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.3037A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.3037A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.3037A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.3037A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.3037A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.3034A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.3034A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.3034A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.3034A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.3034A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.3034A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.3037A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.3037A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.3037A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.3037A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.3037A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.3037A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.3037A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.3037A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3034A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.3034A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.3034A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.3034A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.3124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.2983A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.2983A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.2983A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.2983A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.2983A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.2983A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.2983A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.2983A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.2983A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.2983A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.2980A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.2980A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.2980A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.2983A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.2980A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.2983A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.2980A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.3124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.3124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.3124A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.3121A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.3121A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.3103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.2914A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.2911A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.2866A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.2866A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.2863A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.2866A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.3103A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.2743A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.2359A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.2359A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3106A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.3247A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004815583All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain Significance
(Sep 5, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided108544not providedclinical testing

Citations

PubMed

Association of BRCA1 mutations with occult primary ovarian insufficiency: a possible explanation for the link between infertility and breast/ovarian cancer risks.

Oktay K, Kim JY, Barad D, Babayev SN.

J Clin Oncol. 2010 Jan 10;28(2):240-4. doi: 10.1200/JCO.2009.24.2057. Epub 2009 Dec 7. Erratum in: J Clin Oncol. 2010 Oct 20;28(30):4664.

PubMed [citation]
PMID:
19996028
PMCID:
PMC3040011

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

Breast Cancer Association Consortium., Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C, Wahlström C, Pooley KA, Parsons MT, Fortuno C, Wang Q, Bolla MK, Dennis J, Keeman R, Alonso MR, Álvarez N, Herraez B, Fernandez V, Núñez-Torres R, Osorio A, Valcich J, Li M, et al.

N Engl J Med. 2021 Feb 4;384(5):428-439. doi: 10.1056/NEJMoa1913948. Epub 2021 Jan 20.

PubMed [citation]
PMID:
33471991
PMCID:
PMC7611105
See all PubMed Citations (4)

Details of each submission

From All of Us Research Program, National Institutes of Health, SCV004815583.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)

Description

This missense variant replaces methionine with valine at codon 1083 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in at least one individual affected with breast cancer (PMID: 19996028, 33471991) and an individual with personal or family history of breast, ovarian or related cancer (PMID: 35753294). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024