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NM_007294.4(BRCA1):c.3247A>C (p.Met1083Leu) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
May 1, 2019
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000590619.4

Allele description [Variation Report for NM_007294.4(BRCA1):c.3247A>C (p.Met1083Leu)]

NM_007294.4(BRCA1):c.3247A>C (p.Met1083Leu)

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>C (p.Met1083Leu)
HGVS:
  • NC_000017.11:g.43092284T>G
  • NG_005905.2:g.125700A>C
  • NG_087068.1:g.1266T>G
  • NM_001407571.1:c.3034A>C
  • NM_001407581.1:c.3247A>C
  • NM_001407582.1:c.3247A>C
  • NM_001407583.1:c.3247A>C
  • NM_001407585.1:c.3247A>C
  • NM_001407587.1:c.3244A>C
  • NM_001407590.1:c.3244A>C
  • NM_001407591.1:c.3244A>C
  • NM_001407593.1:c.3247A>C
  • NM_001407594.1:c.3247A>C
  • NM_001407596.1:c.3247A>C
  • NM_001407597.1:c.3247A>C
  • NM_001407598.1:c.3247A>C
  • NM_001407602.1:c.3247A>C
  • NM_001407603.1:c.3247A>C
  • NM_001407605.1:c.3247A>C
  • NM_001407610.1:c.3244A>C
  • NM_001407611.1:c.3244A>C
  • NM_001407612.1:c.3244A>C
  • NM_001407613.1:c.3244A>C
  • NM_001407614.1:c.3244A>C
  • NM_001407615.1:c.3244A>C
  • NM_001407616.1:c.3247A>C
  • NM_001407617.1:c.3247A>C
  • NM_001407618.1:c.3247A>C
  • NM_001407619.1:c.3247A>C
  • NM_001407620.1:c.3247A>C
  • NM_001407621.1:c.3247A>C
  • NM_001407622.1:c.3247A>C
  • NM_001407623.1:c.3247A>C
  • NM_001407624.1:c.3247A>C
  • NM_001407625.1:c.3247A>C
  • NM_001407626.1:c.3247A>C
  • NM_001407627.1:c.3244A>C
  • NM_001407628.1:c.3244A>C
  • NM_001407629.1:c.3244A>C
  • NM_001407630.1:c.3244A>C
  • NM_001407631.1:c.3244A>C
  • NM_001407632.1:c.3244A>C
  • NM_001407633.1:c.3244A>C
  • NM_001407634.1:c.3244A>C
  • NM_001407635.1:c.3244A>C
  • NM_001407636.1:c.3244A>C
  • NM_001407637.1:c.3244A>C
  • NM_001407638.1:c.3244A>C
  • NM_001407639.1:c.3247A>C
  • NM_001407640.1:c.3247A>C
  • NM_001407641.1:c.3247A>C
  • NM_001407642.1:c.3247A>C
  • NM_001407644.1:c.3244A>C
  • NM_001407645.1:c.3244A>C
  • NM_001407646.1:c.3238A>C
  • NM_001407647.1:c.3238A>C
  • NM_001407648.1:c.3124A>C
  • NM_001407649.1:c.3121A>C
  • NM_001407652.1:c.3247A>C
  • NM_001407653.1:c.3169A>C
  • NM_001407654.1:c.3169A>C
  • NM_001407655.1:c.3169A>C
  • NM_001407656.1:c.3169A>C
  • NM_001407657.1:c.3169A>C
  • NM_001407658.1:c.3169A>C
  • NM_001407659.1:c.3166A>C
  • NM_001407660.1:c.3166A>C
  • NM_001407661.1:c.3166A>C
  • NM_001407662.1:c.3166A>C
  • NM_001407663.1:c.3169A>C
  • NM_001407664.1:c.3124A>C
  • NM_001407665.1:c.3124A>C
  • NM_001407666.1:c.3124A>C
  • NM_001407667.1:c.3124A>C
  • NM_001407668.1:c.3124A>C
  • NM_001407669.1:c.3124A>C
  • NM_001407670.1:c.3121A>C
  • NM_001407671.1:c.3121A>C
  • NM_001407672.1:c.3121A>C
  • NM_001407673.1:c.3121A>C
  • NM_001407674.1:c.3124A>C
  • NM_001407675.1:c.3124A>C
  • NM_001407676.1:c.3124A>C
  • NM_001407677.1:c.3124A>C
  • NM_001407678.1:c.3124A>C
  • NM_001407679.1:c.3124A>C
  • NM_001407680.1:c.3124A>C
  • NM_001407681.1:c.3124A>C
  • NM_001407682.1:c.3124A>C
  • NM_001407683.1:c.3124A>C
  • NM_001407684.1:c.3247A>C
  • NM_001407685.1:c.3121A>C
  • NM_001407686.1:c.3121A>C
  • NM_001407687.1:c.3121A>C
  • NM_001407688.1:c.3121A>C
  • NM_001407689.1:c.3121A>C
  • NM_001407690.1:c.3121A>C
  • NM_001407691.1:c.3121A>C
  • NM_001407692.1:c.3106A>C
  • NM_001407694.1:c.3106A>C
  • NM_001407695.1:c.3106A>C
  • NM_001407696.1:c.3106A>C
  • NM_001407697.1:c.3106A>C
  • NM_001407698.1:c.3106A>C
  • NM_001407724.1:c.3106A>C
  • NM_001407725.1:c.3106A>C
  • NM_001407726.1:c.3106A>C
  • NM_001407727.1:c.3106A>C
  • NM_001407728.1:c.3106A>C
  • NM_001407729.1:c.3106A>C
  • NM_001407730.1:c.3106A>C
  • NM_001407731.1:c.3106A>C
  • NM_001407732.1:c.3106A>C
  • NM_001407733.1:c.3106A>C
  • NM_001407734.1:c.3106A>C
  • NM_001407735.1:c.3106A>C
  • NM_001407736.1:c.3106A>C
  • NM_001407737.1:c.3106A>C
  • NM_001407738.1:c.3106A>C
  • NM_001407739.1:c.3106A>C
  • NM_001407740.1:c.3103A>C
  • NM_001407741.1:c.3103A>C
  • NM_001407742.1:c.3103A>C
  • NM_001407743.1:c.3103A>C
  • NM_001407744.1:c.3103A>C
  • NM_001407745.1:c.3103A>C
  • NM_001407746.1:c.3103A>C
  • NM_001407747.1:c.3103A>C
  • NM_001407748.1:c.3103A>C
  • NM_001407749.1:c.3103A>C
  • NM_001407750.1:c.3106A>C
  • NM_001407751.1:c.3106A>C
  • NM_001407752.1:c.3106A>C
  • NM_001407838.1:c.3103A>C
  • NM_001407839.1:c.3103A>C
  • NM_001407841.1:c.3103A>C
  • NM_001407842.1:c.3103A>C
  • NM_001407843.1:c.3103A>C
  • NM_001407844.1:c.3103A>C
  • NM_001407845.1:c.3103A>C
  • NM_001407846.1:c.3103A>C
  • NM_001407847.1:c.3103A>C
  • NM_001407848.1:c.3103A>C
  • NM_001407849.1:c.3103A>C
  • NM_001407850.1:c.3106A>C
  • NM_001407851.1:c.3106A>C
  • NM_001407852.1:c.3106A>C
  • NM_001407853.1:c.3034A>C
  • NM_001407854.1:c.3247A>C
  • NM_001407858.1:c.3247A>C
  • NM_001407859.1:c.3247A>C
  • NM_001407860.1:c.3244A>C
  • NM_001407861.1:c.3244A>C
  • NM_001407862.1:c.3046A>C
  • NM_001407863.1:c.3124A>C
  • NM_001407874.1:c.3043A>C
  • NM_001407875.1:c.3043A>C
  • NM_001407879.1:c.3037A>C
  • NM_001407881.1:c.3037A>C
  • NM_001407882.1:c.3037A>C
  • NM_001407884.1:c.3037A>C
  • NM_001407885.1:c.3037A>C
  • NM_001407886.1:c.3037A>C
  • NM_001407887.1:c.3037A>C
  • NM_001407889.1:c.3037A>C
  • NM_001407894.1:c.3034A>C
  • NM_001407895.1:c.3034A>C
  • NM_001407896.1:c.3034A>C
  • NM_001407897.1:c.3034A>C
  • NM_001407898.1:c.3034A>C
  • NM_001407899.1:c.3034A>C
  • NM_001407900.1:c.3037A>C
  • NM_001407902.1:c.3037A>C
  • NM_001407904.1:c.3037A>C
  • NM_001407906.1:c.3037A>C
  • NM_001407907.1:c.3037A>C
  • NM_001407908.1:c.3037A>C
  • NM_001407909.1:c.3037A>C
  • NM_001407910.1:c.3037A>C
  • NM_001407915.1:c.3034A>C
  • NM_001407916.1:c.3034A>C
  • NM_001407917.1:c.3034A>C
  • NM_001407918.1:c.3034A>C
  • NM_001407919.1:c.3124A>C
  • NM_001407920.1:c.2983A>C
  • NM_001407921.1:c.2983A>C
  • NM_001407922.1:c.2983A>C
  • NM_001407923.1:c.2983A>C
  • NM_001407924.1:c.2983A>C
  • NM_001407925.1:c.2983A>C
  • NM_001407926.1:c.2983A>C
  • NM_001407927.1:c.2983A>C
  • NM_001407928.1:c.2983A>C
  • NM_001407929.1:c.2983A>C
  • NM_001407930.1:c.2980A>C
  • NM_001407931.1:c.2980A>C
  • NM_001407932.1:c.2980A>C
  • NM_001407933.1:c.2983A>C
  • NM_001407934.1:c.2980A>C
  • NM_001407935.1:c.2983A>C
  • NM_001407936.1:c.2980A>C
  • NM_001407937.1:c.3124A>C
  • NM_001407938.1:c.3124A>C
  • NM_001407939.1:c.3124A>C
  • NM_001407940.1:c.3121A>C
  • NM_001407941.1:c.3121A>C
  • NM_001407942.1:c.3106A>C
  • NM_001407943.1:c.3103A>C
  • NM_001407944.1:c.3106A>C
  • NM_001407945.1:c.3106A>C
  • NM_001407946.1:c.2914A>C
  • NM_001407947.1:c.2914A>C
  • NM_001407948.1:c.2914A>C
  • NM_001407949.1:c.2914A>C
  • NM_001407950.1:c.2914A>C
  • NM_001407951.1:c.2914A>C
  • NM_001407952.1:c.2914A>C
  • NM_001407953.1:c.2914A>C
  • NM_001407954.1:c.2911A>C
  • NM_001407955.1:c.2911A>C
  • NM_001407956.1:c.2911A>C
  • NM_001407957.1:c.2914A>C
  • NM_001407958.1:c.2911A>C
  • NM_001407959.1:c.2866A>C
  • NM_001407960.1:c.2866A>C
  • NM_001407962.1:c.2863A>C
  • NM_001407963.1:c.2866A>C
  • NM_001407964.1:c.3103A>C
  • NM_001407965.1:c.2743A>C
  • NM_001407966.1:c.2359A>C
  • NM_001407967.1:c.2359A>C
  • NM_001407968.1:c.788-145A>C
  • NM_001407969.1:c.788-145A>C
  • NM_001407970.1:c.788-1252A>C
  • NM_001407971.1:c.788-1252A>C
  • NM_001407972.1:c.785-1252A>C
  • NM_001407973.1:c.788-1252A>C
  • NM_001407974.1:c.788-1252A>C
  • NM_001407975.1:c.788-1252A>C
  • NM_001407976.1:c.788-1252A>C
  • NM_001407977.1:c.788-1252A>C
  • NM_001407978.1:c.788-1252A>C
  • NM_001407979.1:c.788-1252A>C
  • NM_001407980.1:c.788-1252A>C
  • NM_001407981.1:c.788-1252A>C
  • NM_001407982.1:c.788-1252A>C
  • NM_001407983.1:c.788-1252A>C
  • NM_001407984.1:c.785-1252A>C
  • NM_001407985.1:c.785-1252A>C
  • NM_001407986.1:c.785-1252A>C
  • NM_001407990.1:c.788-1252A>C
  • NM_001407991.1:c.785-1252A>C
  • NM_001407992.1:c.785-1252A>C
  • NM_001407993.1:c.788-1252A>C
  • NM_001408392.1:c.785-1252A>C
  • NM_001408396.1:c.785-1252A>C
  • NM_001408397.1:c.785-1252A>C
  • NM_001408398.1:c.785-1252A>C
  • NM_001408399.1:c.785-1252A>C
  • NM_001408400.1:c.785-1252A>C
  • NM_001408401.1:c.785-1252A>C
  • NM_001408402.1:c.785-1252A>C
  • NM_001408403.1:c.788-1252A>C
  • NM_001408404.1:c.788-1252A>C
  • NM_001408406.1:c.791-1261A>C
  • NM_001408407.1:c.785-1252A>C
  • NM_001408408.1:c.779-1252A>C
  • NM_001408409.1:c.710-1252A>C
  • NM_001408410.1:c.647-1252A>C
  • NM_001408411.1:c.710-1252A>C
  • NM_001408412.1:c.710-1252A>C
  • NM_001408413.1:c.707-1252A>C
  • NM_001408414.1:c.710-1252A>C
  • NM_001408415.1:c.710-1252A>C
  • NM_001408416.1:c.707-1252A>C
  • NM_001408418.1:c.671-1252A>C
  • NM_001408419.1:c.671-1252A>C
  • NM_001408420.1:c.671-1252A>C
  • NM_001408421.1:c.668-1252A>C
  • NM_001408422.1:c.671-1252A>C
  • NM_001408423.1:c.671-1252A>C
  • NM_001408424.1:c.668-1252A>C
  • NM_001408425.1:c.665-1252A>C
  • NM_001408426.1:c.665-1252A>C
  • NM_001408427.1:c.665-1252A>C
  • NM_001408428.1:c.665-1252A>C
  • NM_001408429.1:c.665-1252A>C
  • NM_001408430.1:c.665-1252A>C
  • NM_001408431.1:c.668-1252A>C
  • NM_001408432.1:c.662-1252A>C
  • NM_001408433.1:c.662-1252A>C
  • NM_001408434.1:c.662-1252A>C
  • NM_001408435.1:c.662-1252A>C
  • NM_001408436.1:c.665-1252A>C
  • NM_001408437.1:c.665-1252A>C
  • NM_001408438.1:c.665-1252A>C
  • NM_001408439.1:c.665-1252A>C
  • NM_001408440.1:c.665-1252A>C
  • NM_001408441.1:c.665-1252A>C
  • NM_001408442.1:c.665-1252A>C
  • NM_001408443.1:c.665-1252A>C
  • NM_001408444.1:c.665-1252A>C
  • NM_001408445.1:c.662-1252A>C
  • NM_001408446.1:c.662-1252A>C
  • NM_001408447.1:c.662-1252A>C
  • NM_001408448.1:c.662-1252A>C
  • NM_001408450.1:c.662-1252A>C
  • NM_001408451.1:c.653-1252A>C
  • NM_001408452.1:c.647-1252A>C
  • NM_001408453.1:c.647-1252A>C
  • NM_001408454.1:c.647-1252A>C
  • NM_001408455.1:c.647-1252A>C
  • NM_001408456.1:c.647-1252A>C
  • NM_001408457.1:c.647-1252A>C
  • NM_001408458.1:c.647-1252A>C
  • NM_001408459.1:c.647-1252A>C
  • NM_001408460.1:c.647-1252A>C
  • NM_001408461.1:c.647-1252A>C
  • NM_001408462.1:c.644-1252A>C
  • NM_001408463.1:c.644-1252A>C
  • NM_001408464.1:c.644-1252A>C
  • NM_001408465.1:c.644-1252A>C
  • NM_001408466.1:c.647-1252A>C
  • NM_001408467.1:c.647-1252A>C
  • NM_001408468.1:c.644-1252A>C
  • NM_001408469.1:c.647-1252A>C
  • NM_001408470.1:c.644-1252A>C
  • NM_001408472.1:c.788-1252A>C
  • NM_001408473.1:c.785-1252A>C
  • NM_001408474.1:c.587-1252A>C
  • NM_001408475.1:c.584-1252A>C
  • NM_001408476.1:c.587-1252A>C
  • NM_001408478.1:c.578-1252A>C
  • NM_001408479.1:c.578-1252A>C
  • NM_001408480.1:c.578-1252A>C
  • NM_001408481.1:c.578-1252A>C
  • NM_001408482.1:c.578-1252A>C
  • NM_001408483.1:c.578-1252A>C
  • NM_001408484.1:c.578-1252A>C
  • NM_001408485.1:c.578-1252A>C
  • NM_001408489.1:c.578-1252A>C
  • NM_001408490.1:c.575-1252A>C
  • NM_001408491.1:c.575-1252A>C
  • NM_001408492.1:c.578-1252A>C
  • NM_001408493.1:c.575-1252A>C
  • NM_001408494.1:c.548-1252A>C
  • NM_001408495.1:c.545-1252A>C
  • NM_001408496.1:c.524-1252A>C
  • NM_001408497.1:c.524-1252A>C
  • NM_001408498.1:c.524-1252A>C
  • NM_001408499.1:c.524-1252A>C
  • NM_001408500.1:c.524-1252A>C
  • NM_001408501.1:c.524-1252A>C
  • NM_001408502.1:c.455-1252A>C
  • NM_001408503.1:c.521-1252A>C
  • NM_001408504.1:c.521-1252A>C
  • NM_001408505.1:c.521-1252A>C
  • NM_001408506.1:c.461-1252A>C
  • NM_001408507.1:c.461-1252A>C
  • NM_001408508.1:c.452-1252A>C
  • NM_001408509.1:c.452-1252A>C
  • NM_001408510.1:c.407-1252A>C
  • NM_001408511.1:c.404-1252A>C
  • NM_001408512.1:c.284-1252A>C
  • NM_001408513.1:c.578-1252A>C
  • NM_001408514.1:c.578-1252A>C
  • NM_007294.4:c.3247A>CMANE SELECT
  • NM_007297.4:c.3106A>C
  • NM_007298.4:c.788-1252A>C
  • NM_007299.4:c.788-1252A>C
  • NM_007300.4:c.3247A>C
  • NP_001394500.1:p.Met1012Leu
  • NP_001394510.1:p.Met1083Leu
  • NP_001394511.1:p.Met1083Leu
  • NP_001394512.1:p.Met1083Leu
  • NP_001394514.1:p.Met1083Leu
  • NP_001394516.1:p.Met1082Leu
  • NP_001394519.1:p.Met1082Leu
  • NP_001394520.1:p.Met1082Leu
  • NP_001394522.1:p.Met1083Leu
  • NP_001394523.1:p.Met1083Leu
  • NP_001394525.1:p.Met1083Leu
  • NP_001394526.1:p.Met1083Leu
  • NP_001394527.1:p.Met1083Leu
  • NP_001394531.1:p.Met1083Leu
  • NP_001394532.1:p.Met1083Leu
  • NP_001394534.1:p.Met1083Leu
  • NP_001394539.1:p.Met1082Leu
  • NP_001394540.1:p.Met1082Leu
  • NP_001394541.1:p.Met1082Leu
  • NP_001394542.1:p.Met1082Leu
  • NP_001394543.1:p.Met1082Leu
  • NP_001394544.1:p.Met1082Leu
  • NP_001394545.1:p.Met1083Leu
  • NP_001394546.1:p.Met1083Leu
  • NP_001394547.1:p.Met1083Leu
  • NP_001394548.1:p.Met1083Leu
  • NP_001394549.1:p.Met1083Leu
  • NP_001394550.1:p.Met1083Leu
  • NP_001394551.1:p.Met1083Leu
  • NP_001394552.1:p.Met1083Leu
  • NP_001394553.1:p.Met1083Leu
  • NP_001394554.1:p.Met1083Leu
  • NP_001394555.1:p.Met1083Leu
  • NP_001394556.1:p.Met1082Leu
  • NP_001394557.1:p.Met1082Leu
  • NP_001394558.1:p.Met1082Leu
  • NP_001394559.1:p.Met1082Leu
  • NP_001394560.1:p.Met1082Leu
  • NP_001394561.1:p.Met1082Leu
  • NP_001394562.1:p.Met1082Leu
  • NP_001394563.1:p.Met1082Leu
  • NP_001394564.1:p.Met1082Leu
  • NP_001394565.1:p.Met1082Leu
  • NP_001394566.1:p.Met1082Leu
  • NP_001394567.1:p.Met1082Leu
  • NP_001394568.1:p.Met1083Leu
  • NP_001394569.1:p.Met1083Leu
  • NP_001394570.1:p.Met1083Leu
  • NP_001394571.1:p.Met1083Leu
  • NP_001394573.1:p.Met1082Leu
  • NP_001394574.1:p.Met1082Leu
  • NP_001394575.1:p.Met1080Leu
  • NP_001394576.1:p.Met1080Leu
  • NP_001394577.1:p.Met1042Leu
  • NP_001394578.1:p.Met1041Leu
  • NP_001394581.1:p.Met1083Leu
  • NP_001394582.1:p.Met1057Leu
  • NP_001394583.1:p.Met1057Leu
  • NP_001394584.1:p.Met1057Leu
  • NP_001394585.1:p.Met1057Leu
  • NP_001394586.1:p.Met1057Leu
  • NP_001394587.1:p.Met1057Leu
  • NP_001394588.1:p.Met1056Leu
  • NP_001394589.1:p.Met1056Leu
  • NP_001394590.1:p.Met1056Leu
  • NP_001394591.1:p.Met1056Leu
  • NP_001394592.1:p.Met1057Leu
  • NP_001394593.1:p.Met1042Leu
  • NP_001394594.1:p.Met1042Leu
  • NP_001394595.1:p.Met1042Leu
  • NP_001394596.1:p.Met1042Leu
  • NP_001394597.1:p.Met1042Leu
  • NP_001394598.1:p.Met1042Leu
  • NP_001394599.1:p.Met1041Leu
  • NP_001394600.1:p.Met1041Leu
  • NP_001394601.1:p.Met1041Leu
  • NP_001394602.1:p.Met1041Leu
  • NP_001394603.1:p.Met1042Leu
  • NP_001394604.1:p.Met1042Leu
  • NP_001394605.1:p.Met1042Leu
  • NP_001394606.1:p.Met1042Leu
  • NP_001394607.1:p.Met1042Leu
  • NP_001394608.1:p.Met1042Leu
  • NP_001394609.1:p.Met1042Leu
  • NP_001394610.1:p.Met1042Leu
  • NP_001394611.1:p.Met1042Leu
  • NP_001394612.1:p.Met1042Leu
  • NP_001394613.1:p.Met1083Leu
  • NP_001394614.1:p.Met1041Leu
  • NP_001394615.1:p.Met1041Leu
  • NP_001394616.1:p.Met1041Leu
  • NP_001394617.1:p.Met1041Leu
  • NP_001394618.1:p.Met1041Leu
  • NP_001394619.1:p.Met1041Leu
  • NP_001394620.1:p.Met1041Leu
  • NP_001394621.1:p.Met1036Leu
  • NP_001394623.1:p.Met1036Leu
  • NP_001394624.1:p.Met1036Leu
  • NP_001394625.1:p.Met1036Leu
  • NP_001394626.1:p.Met1036Leu
  • NP_001394627.1:p.Met1036Leu
  • NP_001394653.1:p.Met1036Leu
  • NP_001394654.1:p.Met1036Leu
  • NP_001394655.1:p.Met1036Leu
  • NP_001394656.1:p.Met1036Leu
  • NP_001394657.1:p.Met1036Leu
  • NP_001394658.1:p.Met1036Leu
  • NP_001394659.1:p.Met1036Leu
  • NP_001394660.1:p.Met1036Leu
  • NP_001394661.1:p.Met1036Leu
  • NP_001394662.1:p.Met1036Leu
  • NP_001394663.1:p.Met1036Leu
  • NP_001394664.1:p.Met1036Leu
  • NP_001394665.1:p.Met1036Leu
  • NP_001394666.1:p.Met1036Leu
  • NP_001394667.1:p.Met1036Leu
  • NP_001394668.1:p.Met1036Leu
  • NP_001394669.1:p.Met1035Leu
  • NP_001394670.1:p.Met1035Leu
  • NP_001394671.1:p.Met1035Leu
  • NP_001394672.1:p.Met1035Leu
  • NP_001394673.1:p.Met1035Leu
  • NP_001394674.1:p.Met1035Leu
  • NP_001394675.1:p.Met1035Leu
  • NP_001394676.1:p.Met1035Leu
  • NP_001394677.1:p.Met1035Leu
  • NP_001394678.1:p.Met1035Leu
  • NP_001394679.1:p.Met1036Leu
  • NP_001394680.1:p.Met1036Leu
  • NP_001394681.1:p.Met1036Leu
  • NP_001394767.1:p.Met1035Leu
  • NP_001394768.1:p.Met1035Leu
  • NP_001394770.1:p.Met1035Leu
  • NP_001394771.1:p.Met1035Leu
  • NP_001394772.1:p.Met1035Leu
  • NP_001394773.1:p.Met1035Leu
  • NP_001394774.1:p.Met1035Leu
  • NP_001394775.1:p.Met1035Leu
  • NP_001394776.1:p.Met1035Leu
  • NP_001394777.1:p.Met1035Leu
  • NP_001394778.1:p.Met1035Leu
  • NP_001394779.1:p.Met1036Leu
  • NP_001394780.1:p.Met1036Leu
  • NP_001394781.1:p.Met1036Leu
  • NP_001394782.1:p.Met1012Leu
  • NP_001394783.1:p.Met1083Leu
  • NP_001394787.1:p.Met1083Leu
  • NP_001394788.1:p.Met1083Leu
  • NP_001394789.1:p.Met1082Leu
  • NP_001394790.1:p.Met1082Leu
  • NP_001394791.1:p.Met1016Leu
  • NP_001394792.1:p.Met1042Leu
  • NP_001394803.1:p.Met1015Leu
  • NP_001394804.1:p.Met1015Leu
  • NP_001394808.1:p.Met1013Leu
  • NP_001394810.1:p.Met1013Leu
  • NP_001394811.1:p.Met1013Leu
  • NP_001394813.1:p.Met1013Leu
  • NP_001394814.1:p.Met1013Leu
  • NP_001394815.1:p.Met1013Leu
  • NP_001394816.1:p.Met1013Leu
  • NP_001394818.1:p.Met1013Leu
  • NP_001394823.1:p.Met1012Leu
  • NP_001394824.1:p.Met1012Leu
  • NP_001394825.1:p.Met1012Leu
  • NP_001394826.1:p.Met1012Leu
  • NP_001394827.1:p.Met1012Leu
  • NP_001394828.1:p.Met1012Leu
  • NP_001394829.1:p.Met1013Leu
  • NP_001394831.1:p.Met1013Leu
  • NP_001394833.1:p.Met1013Leu
  • NP_001394835.1:p.Met1013Leu
  • NP_001394836.1:p.Met1013Leu
  • NP_001394837.1:p.Met1013Leu
  • NP_001394838.1:p.Met1013Leu
  • NP_001394839.1:p.Met1013Leu
  • NP_001394844.1:p.Met1012Leu
  • NP_001394845.1:p.Met1012Leu
  • NP_001394846.1:p.Met1012Leu
  • NP_001394847.1:p.Met1012Leu
  • NP_001394848.1:p.Met1042Leu
  • NP_001394849.1:p.Met995Leu
  • NP_001394850.1:p.Met995Leu
  • NP_001394851.1:p.Met995Leu
  • NP_001394852.1:p.Met995Leu
  • NP_001394853.1:p.Met995Leu
  • NP_001394854.1:p.Met995Leu
  • NP_001394855.1:p.Met995Leu
  • NP_001394856.1:p.Met995Leu
  • NP_001394857.1:p.Met995Leu
  • NP_001394858.1:p.Met995Leu
  • NP_001394859.1:p.Met994Leu
  • NP_001394860.1:p.Met994Leu
  • NP_001394861.1:p.Met994Leu
  • NP_001394862.1:p.Met995Leu
  • NP_001394863.1:p.Met994Leu
  • NP_001394864.1:p.Met995Leu
  • NP_001394865.1:p.Met994Leu
  • NP_001394866.1:p.Met1042Leu
  • NP_001394867.1:p.Met1042Leu
  • NP_001394868.1:p.Met1042Leu
  • NP_001394869.1:p.Met1041Leu
  • NP_001394870.1:p.Met1041Leu
  • NP_001394871.1:p.Met1036Leu
  • NP_001394872.1:p.Met1035Leu
  • NP_001394873.1:p.Met1036Leu
  • NP_001394874.1:p.Met1036Leu
  • NP_001394875.1:p.Met972Leu
  • NP_001394876.1:p.Met972Leu
  • NP_001394877.1:p.Met972Leu
  • NP_001394878.1:p.Met972Leu
  • NP_001394879.1:p.Met972Leu
  • NP_001394880.1:p.Met972Leu
  • NP_001394881.1:p.Met972Leu
  • NP_001394882.1:p.Met972Leu
  • NP_001394883.1:p.Met971Leu
  • NP_001394884.1:p.Met971Leu
  • NP_001394885.1:p.Met971Leu
  • NP_001394886.1:p.Met972Leu
  • NP_001394887.1:p.Met971Leu
  • NP_001394888.1:p.Met956Leu
  • NP_001394889.1:p.Met956Leu
  • NP_001394891.1:p.Met955Leu
  • NP_001394892.1:p.Met956Leu
  • NP_001394893.1:p.Met1035Leu
  • NP_001394894.1:p.Met915Leu
  • NP_001394895.1:p.Met787Leu
  • NP_001394896.1:p.Met787Leu
  • NP_009225.1:p.Met1083Leu
  • NP_009225.1:p.Met1083Leu
  • NP_009228.2:p.Met1036Leu
  • NP_009231.2:p.Met1083Leu
  • LRG_292t1:c.3247A>C
  • LRG_292:g.125700A>C
  • LRG_292p1:p.Met1083Leu
  • NC_000017.10:g.41244301T>G
  • NM_007294.3:c.3247A>C
  • NR_027676.1:n.3383A>C
  • p.M1083L
Nucleotide change:
3366A>C
Protein change:
M1012L
Links:
dbSNP: rs397507213
NCBI 1000 Genomes Browser:
rs397507213
Molecular consequence:
  • NM_001407968.1:c.788-145A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-145A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1261A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1252A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.3034A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.3238A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.3238A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.3121A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.3169A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.3169A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.3169A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.3169A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.3169A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.3169A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.3166A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.3166A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.3166A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.3166A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.3169A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.3121A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.3121A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.3121A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.3121A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.3121A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.3121A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.3121A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.3121A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.3121A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.3121A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.3121A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.3034A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407854.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407858.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407859.1:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407860.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407861.1:c.3244A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.3046A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.3043A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.3043A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.3034A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.3034A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.3034A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.3034A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.3034A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.3034A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.3037A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.3034A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.3034A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.3034A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.3034A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.2983A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.2983A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.2983A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.2983A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.2983A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.2983A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.2983A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.2983A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.2983A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.2983A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.2980A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.2980A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.2980A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.2983A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.2980A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.2983A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.2980A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407937.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407938.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407939.1:c.3124A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407940.1:c.3121A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407941.1:c.3121A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407942.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407943.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407944.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407945.1:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.2914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.2914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.2914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.2914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.2914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.2914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.2914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.2914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.2911A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.2911A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.2911A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.2914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.2911A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.2866A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.2866A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.2863A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.2866A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.3103A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.2743A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.2359A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.2359A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3106A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.3247A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000699009Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Oct 3, 2016) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

LabCorp Variant Classification Summary - May 2015.docx,

Citation Link,

SCV001993608GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(May 1, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Results of a population-based screening for hereditary breast cancer in a region of North-Central Italy: contribution of BRCA1/2 germ-line mutations.

Seymour IJ, Casadei S, Zampiga V, Rosato S, Danesi R, Scarpi E, Falcini F, Strada M, Morini N, Naldoni C, Amadori D, Calistri D.

Breast Cancer Res Treat. 2008 Nov;112(2):343-9. Epub 2007 Dec 20.

PubMed [citation]
PMID:
18092194

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699009.1

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

Description

Variant summary: The BRCA1 c.3247A>C (p.Met1083Leu) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). Met1083 is not conserved across species and is not located in a known functional domain.This variant was found in 2/121344 control chromosomes at a frequency of 0.0000165, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance. Taken together, this variant is classified as VUS.

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

From GeneDx, SCV001993608.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 25186627, 18092194)

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

Last Updated: Oct 8, 2024