U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.3247A>G (p.Met1083Val) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 19, 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:
RCV000473151.13

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)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000549283Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jan 19, 2024) 		germlineclinical testing

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

Help

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000549283.10

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

Description

This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1083 of the BRCA1 protein (p.Met1083Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with breast cancer (PMID: 19996028). This variant is also known as 3366A>G. ClinVar contains an entry for this variant (Variation ID: 185061). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 8, 2024