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NM_007294.4(BRCA1):c.3247A>G (p.Met1083Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 24, 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:
RCV001526884.3

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]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001737623Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jun 24, 2024) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot 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 (3)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001737623.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

Variant summary: BRCA1 c.3247A>G (p.Met1083Val) results in a conservative amino acid change in the encoded protein sequence. Four of four in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 250484 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance .c.3247A>G has been reported in the literature in individuals affected with BRCA1-related cancers (e.g. Alkhalaf_2010, Oktay_2010, Dorling_2021, Bisgin_2022). However, these report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. Co-occurrences with other pathogenic variant(s) have been reported (BRCA2 c.9097dupA, p.3033fs*11), providing supporting evidence for a benign role (Bisgin_2022). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 35753294, 33471991, 19996028). ClinVar contains an entry for this variant (Variation ID: 185061). Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Oct 8, 2024