NM_007294.4(BRCA1):c.373A>G (p.Ile125Val) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 12, 2015
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000484624.2
Allele description [Variation Report for NM_007294.4(BRCA1):c.373A>G (p.Ile125Val)]
NM_007294.4(BRCA1):c.373A>G (p.Ile125Val)
- Gene:
- BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
- Variant type:
- single nucleotide variant
- Cytogenetic location:
- 17q21.31
- Genomic location:
- Preferred name:
- NM_007294.4(BRCA1):c.373A>G (p.Ile125Val)
- HGVS:
- NC_000017.11:g.43104190T>C
- NG_005905.2:g.113794A>G
- NM_001407571.1:c.163A>G
- NM_001407581.1:c.373A>G
- NM_001407582.1:c.373A>G
- NM_001407583.1:c.373A>G
- NM_001407585.1:c.373A>G
- NM_001407587.1:c.373A>G
- NM_001407590.1:c.373A>G
- NM_001407591.1:c.373A>G
- NM_001407593.1:c.373A>G
- NM_001407594.1:c.373A>G
- NM_001407596.1:c.373A>G
- NM_001407597.1:c.373A>G
- NM_001407598.1:c.373A>G
- NM_001407602.1:c.373A>G
- NM_001407603.1:c.373A>G
- NM_001407605.1:c.373A>G
- NM_001407610.1:c.373A>G
- NM_001407611.1:c.373A>G
- NM_001407612.1:c.373A>G
- NM_001407613.1:c.373A>G
- NM_001407614.1:c.373A>G
- NM_001407615.1:c.373A>G
- NM_001407616.1:c.373A>G
- NM_001407617.1:c.373A>G
- NM_001407618.1:c.373A>G
- NM_001407619.1:c.373A>G
- NM_001407620.1:c.373A>G
- NM_001407621.1:c.373A>G
- NM_001407622.1:c.373A>G
- NM_001407623.1:c.373A>G
- NM_001407624.1:c.373A>G
- NM_001407625.1:c.373A>G
- NM_001407626.1:c.373A>G
- NM_001407627.1:c.373A>G
- NM_001407628.1:c.373A>G
- NM_001407629.1:c.373A>G
- NM_001407630.1:c.373A>G
- NM_001407631.1:c.373A>G
- NM_001407632.1:c.373A>G
- NM_001407633.1:c.373A>G
- NM_001407634.1:c.373A>G
- NM_001407635.1:c.373A>G
- NM_001407636.1:c.373A>G
- NM_001407637.1:c.373A>G
- NM_001407638.1:c.373A>G
- NM_001407639.1:c.373A>G
- NM_001407640.1:c.373A>G
- NM_001407641.1:c.373A>G
- NM_001407642.1:c.373A>G
- NM_001407644.1:c.373A>G
- NM_001407645.1:c.373A>G
- NM_001407646.1:c.364A>G
- NM_001407647.1:c.364A>G
- NM_001407648.1:c.373A>G
- NM_001407649.1:c.373A>G
- NM_001407652.1:c.373A>G
- NM_001407653.1:c.295A>G
- NM_001407654.1:c.295A>G
- NM_001407655.1:c.295A>G
- NM_001407656.1:c.295A>G
- NM_001407657.1:c.295A>G
- NM_001407658.1:c.295A>G
- NM_001407659.1:c.295A>G
- NM_001407660.1:c.295A>G
- NM_001407661.1:c.295A>G
- NM_001407662.1:c.295A>G
- NM_001407663.1:c.295A>G
- NM_001407664.1:c.373A>G
- NM_001407665.1:c.373A>G
- NM_001407666.1:c.373A>G
- NM_001407667.1:c.373A>G
- NM_001407668.1:c.373A>G
- NM_001407669.1:c.373A>G
- NM_001407670.1:c.373A>G
- NM_001407671.1:c.373A>G
- NM_001407672.1:c.373A>G
- NM_001407673.1:c.373A>G
- NM_001407674.1:c.373A>G
- NM_001407675.1:c.373A>G
- NM_001407676.1:c.373A>G
- NM_001407677.1:c.373A>G
- NM_001407678.1:c.373A>G
- NM_001407679.1:c.373A>G
- NM_001407680.1:c.373A>G
- NM_001407681.1:c.373A>G
- NM_001407682.1:c.373A>G
- NM_001407683.1:c.373A>G
- NM_001407684.1:c.373A>G
- NM_001407685.1:c.373A>G
- NM_001407686.1:c.373A>G
- NM_001407687.1:c.373A>G
- NM_001407688.1:c.373A>G
- NM_001407689.1:c.373A>G
- NM_001407690.1:c.373A>G
- NM_001407691.1:c.373A>G
- NM_001407692.1:c.232A>G
- NM_001407694.1:c.232A>G
- NM_001407695.1:c.232A>G
- NM_001407696.1:c.232A>G
- NM_001407697.1:c.232A>G
- NM_001407698.1:c.232A>G
- NM_001407724.1:c.232A>G
- NM_001407725.1:c.232A>G
- NM_001407726.1:c.232A>G
- NM_001407727.1:c.232A>G
- NM_001407728.1:c.232A>G
- NM_001407729.1:c.232A>G
- NM_001407730.1:c.232A>G
- NM_001407731.1:c.232A>G
- NM_001407732.1:c.232A>G
- NM_001407733.1:c.232A>G
- NM_001407734.1:c.232A>G
- NM_001407735.1:c.232A>G
- NM_001407736.1:c.232A>G
- NM_001407737.1:c.232A>G
- NM_001407738.1:c.232A>G
- NM_001407739.1:c.232A>G
- NM_001407740.1:c.232A>G
- NM_001407741.1:c.232A>G
- NM_001407742.1:c.232A>G
- NM_001407743.1:c.232A>G
- NM_001407744.1:c.232A>G
- NM_001407745.1:c.232A>G
- NM_001407746.1:c.232A>G
- NM_001407747.1:c.232A>G
- NM_001407748.1:c.232A>G
- NM_001407749.1:c.232A>G
- NM_001407750.1:c.232A>G
- NM_001407751.1:c.232A>G
- NM_001407752.1:c.232A>G
- NM_001407838.1:c.232A>G
- NM_001407839.1:c.232A>G
- NM_001407841.1:c.232A>G
- NM_001407842.1:c.232A>G
- NM_001407843.1:c.232A>G
- NM_001407844.1:c.232A>G
- NM_001407845.1:c.232A>G
- NM_001407846.1:c.232A>G
- NM_001407847.1:c.232A>G
- NM_001407848.1:c.232A>G
- NM_001407849.1:c.232A>G
- NM_001407850.1:c.232A>G
- NM_001407851.1:c.232A>G
- NM_001407852.1:c.232A>G
- NM_001407853.1:c.163A>G
- NM_001407854.1:c.373A>G
- NM_001407858.1:c.373A>G
- NM_001407859.1:c.373A>G
- NM_001407860.1:c.373A>G
- NM_001407861.1:c.373A>G
- NM_001407862.1:c.295A>G
- NM_001407863.1:c.373A>G
- NM_001407874.1:c.295A>G
- NM_001407875.1:c.295A>G
- NM_001407879.1:c.163A>G
- NM_001407881.1:c.163A>G
- NM_001407882.1:c.163A>G
- NM_001407884.1:c.163A>G
- NM_001407885.1:c.163A>G
- NM_001407886.1:c.163A>G
- NM_001407887.1:c.163A>G
- NM_001407889.1:c.163A>G
- NM_001407894.1:c.163A>G
- NM_001407895.1:c.163A>G
- NM_001407896.1:c.163A>G
- NM_001407897.1:c.163A>G
- NM_001407898.1:c.163A>G
- NM_001407899.1:c.163A>G
- NM_001407900.1:c.163A>G
- NM_001407902.1:c.163A>G
- NM_001407904.1:c.163A>G
- NM_001407906.1:c.163A>G
- NM_001407907.1:c.163A>G
- NM_001407908.1:c.163A>G
- NM_001407909.1:c.163A>G
- NM_001407910.1:c.163A>G
- NM_001407915.1:c.163A>G
- NM_001407916.1:c.163A>G
- NM_001407917.1:c.163A>G
- NM_001407918.1:c.163A>G
- NM_001407919.1:c.373A>G
- NM_001407920.1:c.232A>G
- NM_001407921.1:c.232A>G
- NM_001407922.1:c.232A>G
- NM_001407923.1:c.232A>G
- NM_001407924.1:c.232A>G
- NM_001407925.1:c.232A>G
- NM_001407926.1:c.232A>G
- NM_001407927.1:c.232A>G
- NM_001407928.1:c.232A>G
- NM_001407929.1:c.232A>G
- NM_001407930.1:c.232A>G
- NM_001407931.1:c.232A>G
- NM_001407932.1:c.232A>G
- NM_001407933.1:c.232A>G
- NM_001407934.1:c.232A>G
- NM_001407935.1:c.232A>G
- NM_001407936.1:c.232A>G
- NM_001407937.1:c.373A>G
- NM_001407938.1:c.373A>G
- NM_001407939.1:c.373A>G
- NM_001407940.1:c.373A>G
- NM_001407941.1:c.373A>G
- NM_001407942.1:c.232A>G
- NM_001407943.1:c.232A>G
- NM_001407944.1:c.232A>G
- NM_001407945.1:c.232A>G
- NM_001407946.1:c.163A>G
- NM_001407947.1:c.163A>G
- NM_001407948.1:c.163A>G
- NM_001407949.1:c.163A>G
- NM_001407950.1:c.163A>G
- NM_001407951.1:c.163A>G
- NM_001407952.1:c.163A>G
- NM_001407953.1:c.163A>G
- NM_001407954.1:c.163A>G
- NM_001407955.1:c.163A>G
- NM_001407956.1:c.163A>G
- NM_001407957.1:c.163A>G
- NM_001407958.1:c.163A>G
- NM_001407959.1:c.-9A>G
- NM_001407960.1:c.-9A>G
- NM_001407962.1:c.-9A>G
- NM_001407963.1:c.-9A>G
- NM_001407964.1:c.232A>G
- NM_001407965.1:c.-9A>G
- NM_001407968.1:c.373A>G
- NM_001407969.1:c.373A>G
- NM_001407970.1:c.373A>G
- NM_001407971.1:c.373A>G
- NM_001407972.1:c.373A>G
- NM_001407973.1:c.373A>G
- NM_001407974.1:c.373A>G
- NM_001407975.1:c.373A>G
- NM_001407976.1:c.373A>G
- NM_001407977.1:c.373A>G
- NM_001407978.1:c.373A>G
- NM_001407979.1:c.373A>G
- NM_001407980.1:c.373A>G
- NM_001407981.1:c.373A>G
- NM_001407982.1:c.373A>G
- NM_001407983.1:c.373A>G
- NM_001407984.1:c.373A>G
- NM_001407985.1:c.373A>G
- NM_001407986.1:c.373A>G
- NM_001407990.1:c.373A>G
- NM_001407991.1:c.373A>G
- NM_001407992.1:c.373A>G
- NM_001407993.1:c.373A>G
- NM_001408392.1:c.373A>G
- NM_001408396.1:c.373A>G
- NM_001408397.1:c.373A>G
- NM_001408398.1:c.373A>G
- NM_001408399.1:c.373A>G
- NM_001408400.1:c.373A>G
- NM_001408401.1:c.373A>G
- NM_001408402.1:c.373A>G
- NM_001408403.1:c.373A>G
- NM_001408404.1:c.373A>G
- NM_001408406.1:c.373A>G
- NM_001408407.1:c.373A>G
- NM_001408408.1:c.364A>G
- NM_001408409.1:c.295A>G
- NM_001408410.1:c.232A>G
- NM_001408411.1:c.295A>G
- NM_001408412.1:c.295A>G
- NM_001408413.1:c.295A>G
- NM_001408414.1:c.295A>G
- NM_001408415.1:c.295A>G
- NM_001408416.1:c.295A>G
- NM_001408418.1:c.373A>G
- NM_001408419.1:c.373A>G
- NM_001408420.1:c.373A>G
- NM_001408421.1:c.373A>G
- NM_001408422.1:c.373A>G
- NM_001408423.1:c.373A>G
- NM_001408424.1:c.373A>G
- NM_001408425.1:c.373A>G
- NM_001408426.1:c.373A>G
- NM_001408427.1:c.373A>G
- NM_001408428.1:c.373A>G
- NM_001408429.1:c.373A>G
- NM_001408430.1:c.373A>G
- NM_001408431.1:c.373A>G
- NM_001408432.1:c.373A>G
- NM_001408433.1:c.373A>G
- NM_001408434.1:c.373A>G
- NM_001408435.1:c.373A>G
- NM_001408436.1:c.373A>G
- NM_001408437.1:c.373A>G
- NM_001408438.1:c.373A>G
- NM_001408439.1:c.373A>G
- NM_001408440.1:c.373A>G
- NM_001408441.1:c.373A>G
- NM_001408442.1:c.373A>G
- NM_001408443.1:c.373A>G
- NM_001408444.1:c.373A>G
- NM_001408445.1:c.373A>G
- NM_001408446.1:c.373A>G
- NM_001408447.1:c.373A>G
- NM_001408448.1:c.373A>G
- NM_001408450.1:c.373A>G
- NM_001408451.1:c.241A>G
- NM_001408452.1:c.232A>G
- NM_001408453.1:c.232A>G
- NM_001408454.1:c.232A>G
- NM_001408455.1:c.232A>G
- NM_001408456.1:c.232A>G
- NM_001408457.1:c.232A>G
- NM_001408458.1:c.232A>G
- NM_001408459.1:c.232A>G
- NM_001408460.1:c.232A>G
- NM_001408461.1:c.232A>G
- NM_001408462.1:c.232A>G
- NM_001408463.1:c.232A>G
- NM_001408464.1:c.232A>G
- NM_001408465.1:c.232A>G
- NM_001408466.1:c.232A>G
- NM_001408467.1:c.232A>G
- NM_001408468.1:c.232A>G
- NM_001408469.1:c.232A>G
- NM_001408470.1:c.232A>G
- NM_001408472.1:c.373A>G
- NM_001408473.1:c.373A>G
- NM_001408474.1:c.295A>G
- NM_001408475.1:c.295A>G
- NM_001408476.1:c.295A>G
- NM_001408478.1:c.163A>G
- NM_001408479.1:c.163A>G
- NM_001408480.1:c.163A>G
- NM_001408481.1:c.163A>G
- NM_001408482.1:c.163A>G
- NM_001408483.1:c.163A>G
- NM_001408484.1:c.163A>G
- NM_001408485.1:c.163A>G
- NM_001408489.1:c.163A>G
- NM_001408490.1:c.163A>G
- NM_001408491.1:c.163A>G
- NM_001408492.1:c.163A>G
- NM_001408493.1:c.163A>G
- NM_001408494.1:c.373A>G
- NM_001408495.1:c.373A>G
- NM_001408496.1:c.232A>G
- NM_001408497.1:c.232A>G
- NM_001408498.1:c.232A>G
- NM_001408499.1:c.232A>G
- NM_001408500.1:c.232A>G
- NM_001408501.1:c.232A>G
- NM_001408502.1:c.163A>G
- NM_001408503.1:c.232A>G
- NM_001408504.1:c.232A>G
- NM_001408505.1:c.232A>G
- NM_001408506.1:c.163A>G
- NM_001408507.1:c.163A>G
- NM_001408508.1:c.163A>G
- NM_001408509.1:c.163A>G
- NM_001408510.1:c.-9A>G
- NM_001408511.1:c.232A>G
- NM_001408512.1:c.-9A>G
- NM_001408513.1:c.163A>G
- NM_001408514.1:c.163A>G
- NM_007294.4:c.373A>GMANE SELECT
- NM_007297.4:c.232A>G
- NM_007298.4:c.373A>G
- NM_007299.4:c.373A>G
- NM_007300.4:c.373A>G
- NM_007304.2:c.373A>G
- NP_001394500.1:p.Ile55Val
- NP_001394510.1:p.Ile125Val
- NP_001394511.1:p.Ile125Val
- NP_001394512.1:p.Ile125Val
- NP_001394514.1:p.Ile125Val
- NP_001394516.1:p.Ile125Val
- NP_001394519.1:p.Ile125Val
- NP_001394520.1:p.Ile125Val
- NP_001394522.1:p.Ile125Val
- NP_001394523.1:p.Ile125Val
- NP_001394525.1:p.Ile125Val
- NP_001394526.1:p.Ile125Val
- NP_001394527.1:p.Ile125Val
- NP_001394531.1:p.Ile125Val
- NP_001394532.1:p.Ile125Val
- NP_001394534.1:p.Ile125Val
- NP_001394539.1:p.Ile125Val
- NP_001394540.1:p.Ile125Val
- NP_001394541.1:p.Ile125Val
- NP_001394542.1:p.Ile125Val
- NP_001394543.1:p.Ile125Val
- NP_001394544.1:p.Ile125Val
- NP_001394545.1:p.Ile125Val
- NP_001394546.1:p.Ile125Val
- NP_001394547.1:p.Ile125Val
- NP_001394548.1:p.Ile125Val
- NP_001394549.1:p.Ile125Val
- NP_001394550.1:p.Ile125Val
- NP_001394551.1:p.Ile125Val
- NP_001394552.1:p.Ile125Val
- NP_001394553.1:p.Ile125Val
- NP_001394554.1:p.Ile125Val
- NP_001394555.1:p.Ile125Val
- NP_001394556.1:p.Ile125Val
- NP_001394557.1:p.Ile125Val
- NP_001394558.1:p.Ile125Val
- NP_001394559.1:p.Ile125Val
- NP_001394560.1:p.Ile125Val
- NP_001394561.1:p.Ile125Val
- NP_001394562.1:p.Ile125Val
- NP_001394563.1:p.Ile125Val
- NP_001394564.1:p.Ile125Val
- NP_001394565.1:p.Ile125Val
- NP_001394566.1:p.Ile125Val
- NP_001394567.1:p.Ile125Val
- NP_001394568.1:p.Ile125Val
- NP_001394569.1:p.Ile125Val
- NP_001394570.1:p.Ile125Val
- NP_001394571.1:p.Ile125Val
- NP_001394573.1:p.Ile125Val
- NP_001394574.1:p.Ile125Val
- NP_001394575.1:p.Ile122Val
- NP_001394576.1:p.Ile122Val
- NP_001394577.1:p.Ile125Val
- NP_001394578.1:p.Ile125Val
- NP_001394581.1:p.Ile125Val
- NP_001394582.1:p.Ile99Val
- NP_001394583.1:p.Ile99Val
- NP_001394584.1:p.Ile99Val
- NP_001394585.1:p.Ile99Val
- NP_001394586.1:p.Ile99Val
- NP_001394587.1:p.Ile99Val
- NP_001394588.1:p.Ile99Val
- NP_001394589.1:p.Ile99Val
- NP_001394590.1:p.Ile99Val
- NP_001394591.1:p.Ile99Val
- NP_001394592.1:p.Ile99Val
- NP_001394593.1:p.Ile125Val
- NP_001394594.1:p.Ile125Val
- NP_001394595.1:p.Ile125Val
- NP_001394596.1:p.Ile125Val
- NP_001394597.1:p.Ile125Val
- NP_001394598.1:p.Ile125Val
- NP_001394599.1:p.Ile125Val
- NP_001394600.1:p.Ile125Val
- NP_001394601.1:p.Ile125Val
- NP_001394602.1:p.Ile125Val
- NP_001394603.1:p.Ile125Val
- NP_001394604.1:p.Ile125Val
- NP_001394605.1:p.Ile125Val
- NP_001394606.1:p.Ile125Val
- NP_001394607.1:p.Ile125Val
- NP_001394608.1:p.Ile125Val
- NP_001394609.1:p.Ile125Val
- NP_001394610.1:p.Ile125Val
- NP_001394611.1:p.Ile125Val
- NP_001394612.1:p.Ile125Val
- NP_001394613.1:p.Ile125Val
- NP_001394614.1:p.Ile125Val
- NP_001394615.1:p.Ile125Val
- NP_001394616.1:p.Ile125Val
- NP_001394617.1:p.Ile125Val
- NP_001394618.1:p.Ile125Val
- NP_001394619.1:p.Ile125Val
- NP_001394620.1:p.Ile125Val
- NP_001394621.1:p.Ile78Val
- NP_001394623.1:p.Ile78Val
- NP_001394624.1:p.Ile78Val
- NP_001394625.1:p.Ile78Val
- NP_001394626.1:p.Ile78Val
- NP_001394627.1:p.Ile78Val
- NP_001394653.1:p.Ile78Val
- NP_001394654.1:p.Ile78Val
- NP_001394655.1:p.Ile78Val
- NP_001394656.1:p.Ile78Val
- NP_001394657.1:p.Ile78Val
- NP_001394658.1:p.Ile78Val
- NP_001394659.1:p.Ile78Val
- NP_001394660.1:p.Ile78Val
- NP_001394661.1:p.Ile78Val
- NP_001394662.1:p.Ile78Val
- NP_001394663.1:p.Ile78Val
- NP_001394664.1:p.Ile78Val
- NP_001394665.1:p.Ile78Val
- NP_001394666.1:p.Ile78Val
- NP_001394667.1:p.Ile78Val
- NP_001394668.1:p.Ile78Val
- NP_001394669.1:p.Ile78Val
- NP_001394670.1:p.Ile78Val
- NP_001394671.1:p.Ile78Val
- NP_001394672.1:p.Ile78Val
- NP_001394673.1:p.Ile78Val
- NP_001394674.1:p.Ile78Val
- NP_001394675.1:p.Ile78Val
- NP_001394676.1:p.Ile78Val
- NP_001394677.1:p.Ile78Val
- NP_001394678.1:p.Ile78Val
- NP_001394679.1:p.Ile78Val
- NP_001394680.1:p.Ile78Val
- NP_001394681.1:p.Ile78Val
- NP_001394767.1:p.Ile78Val
- NP_001394768.1:p.Ile78Val
- NP_001394770.1:p.Ile78Val
- NP_001394771.1:p.Ile78Val
- NP_001394772.1:p.Ile78Val
- NP_001394773.1:p.Ile78Val
- NP_001394774.1:p.Ile78Val
- NP_001394775.1:p.Ile78Val
- NP_001394776.1:p.Ile78Val
- NP_001394777.1:p.Ile78Val
- NP_001394778.1:p.Ile78Val
- NP_001394779.1:p.Ile78Val
- NP_001394780.1:p.Ile78Val
- NP_001394781.1:p.Ile78Val
- NP_001394782.1:p.Ile55Val
- NP_001394783.1:p.Ile125Val
- NP_001394787.1:p.Ile125Val
- NP_001394788.1:p.Ile125Val
- NP_001394789.1:p.Ile125Val
- NP_001394790.1:p.Ile125Val
- NP_001394791.1:p.Ile99Val
- NP_001394792.1:p.Ile125Val
- NP_001394803.1:p.Ile99Val
- NP_001394804.1:p.Ile99Val
- NP_001394808.1:p.Ile55Val
- NP_001394810.1:p.Ile55Val
- NP_001394811.1:p.Ile55Val
- NP_001394813.1:p.Ile55Val
- NP_001394814.1:p.Ile55Val
- NP_001394815.1:p.Ile55Val
- NP_001394816.1:p.Ile55Val
- NP_001394818.1:p.Ile55Val
- NP_001394823.1:p.Ile55Val
- NP_001394824.1:p.Ile55Val
- NP_001394825.1:p.Ile55Val
- NP_001394826.1:p.Ile55Val
- NP_001394827.1:p.Ile55Val
- NP_001394828.1:p.Ile55Val
- NP_001394829.1:p.Ile55Val
- NP_001394831.1:p.Ile55Val
- NP_001394833.1:p.Ile55Val
- NP_001394835.1:p.Ile55Val
- NP_001394836.1:p.Ile55Val
- NP_001394837.1:p.Ile55Val
- NP_001394838.1:p.Ile55Val
- NP_001394839.1:p.Ile55Val
- NP_001394844.1:p.Ile55Val
- NP_001394845.1:p.Ile55Val
- NP_001394846.1:p.Ile55Val
- NP_001394847.1:p.Ile55Val
- NP_001394848.1:p.Ile125Val
- NP_001394849.1:p.Ile78Val
- NP_001394850.1:p.Ile78Val
- NP_001394851.1:p.Ile78Val
- NP_001394852.1:p.Ile78Val
- NP_001394853.1:p.Ile78Val
- NP_001394854.1:p.Ile78Val
- NP_001394855.1:p.Ile78Val
- NP_001394856.1:p.Ile78Val
- NP_001394857.1:p.Ile78Val
- NP_001394858.1:p.Ile78Val
- NP_001394859.1:p.Ile78Val
- NP_001394860.1:p.Ile78Val
- NP_001394861.1:p.Ile78Val
- NP_001394862.1:p.Ile78Val
- NP_001394863.1:p.Ile78Val
- NP_001394864.1:p.Ile78Val
- NP_001394865.1:p.Ile78Val
- NP_001394866.1:p.Ile125Val
- NP_001394867.1:p.Ile125Val
- NP_001394868.1:p.Ile125Val
- NP_001394869.1:p.Ile125Val
- NP_001394870.1:p.Ile125Val
- NP_001394871.1:p.Ile78Val
- NP_001394872.1:p.Ile78Val
- NP_001394873.1:p.Ile78Val
- NP_001394874.1:p.Ile78Val
- NP_001394875.1:p.Ile55Val
- NP_001394876.1:p.Ile55Val
- NP_001394877.1:p.Ile55Val
- NP_001394878.1:p.Ile55Val
- NP_001394879.1:p.Ile55Val
- NP_001394880.1:p.Ile55Val
- NP_001394881.1:p.Ile55Val
- NP_001394882.1:p.Ile55Val
- NP_001394883.1:p.Ile55Val
- NP_001394884.1:p.Ile55Val
- NP_001394885.1:p.Ile55Val
- NP_001394886.1:p.Ile55Val
- NP_001394887.1:p.Ile55Val
- NP_001394893.1:p.Ile78Val
- NP_001394897.1:p.Ile125Val
- NP_001394898.1:p.Ile125Val
- NP_001394899.1:p.Ile125Val
- NP_001394900.1:p.Ile125Val
- NP_001394901.1:p.Ile125Val
- NP_001394902.1:p.Ile125Val
- NP_001394903.1:p.Ile125Val
- NP_001394904.1:p.Ile125Val
- NP_001394905.1:p.Ile125Val
- NP_001394906.1:p.Ile125Val
- NP_001394907.1:p.Ile125Val
- NP_001394908.1:p.Ile125Val
- NP_001394909.1:p.Ile125Val
- NP_001394910.1:p.Ile125Val
- NP_001394911.1:p.Ile125Val
- NP_001394912.1:p.Ile125Val
- NP_001394913.1:p.Ile125Val
- NP_001394914.1:p.Ile125Val
- NP_001394915.1:p.Ile125Val
- NP_001394919.1:p.Ile125Val
- NP_001394920.1:p.Ile125Val
- NP_001394921.1:p.Ile125Val
- NP_001394922.1:p.Ile125Val
- NP_001395321.1:p.Ile125Val
- NP_001395325.1:p.Ile125Val
- NP_001395326.1:p.Ile125Val
- NP_001395327.1:p.Ile125Val
- NP_001395328.1:p.Ile125Val
- NP_001395329.1:p.Ile125Val
- NP_001395330.1:p.Ile125Val
- NP_001395331.1:p.Ile125Val
- NP_001395332.1:p.Ile125Val
- NP_001395333.1:p.Ile125Val
- NP_001395335.1:p.Ile125Val
- NP_001395336.1:p.Ile125Val
- NP_001395337.1:p.Ile122Val
- NP_001395338.1:p.Ile99Val
- NP_001395339.1:p.Ile78Val
- NP_001395340.1:p.Ile99Val
- NP_001395341.1:p.Ile99Val
- NP_001395342.1:p.Ile99Val
- NP_001395343.1:p.Ile99Val
- NP_001395344.1:p.Ile99Val
- NP_001395345.1:p.Ile99Val
- NP_001395347.1:p.Ile125Val
- NP_001395348.1:p.Ile125Val
- NP_001395349.1:p.Ile125Val
- NP_001395350.1:p.Ile125Val
- NP_001395351.1:p.Ile125Val
- NP_001395352.1:p.Ile125Val
- NP_001395353.1:p.Ile125Val
- NP_001395354.1:p.Ile125Val
- NP_001395355.1:p.Ile125Val
- NP_001395356.1:p.Ile125Val
- NP_001395357.1:p.Ile125Val
- NP_001395358.1:p.Ile125Val
- NP_001395359.1:p.Ile125Val
- NP_001395360.1:p.Ile125Val
- NP_001395361.1:p.Ile125Val
- NP_001395362.1:p.Ile125Val
- NP_001395363.1:p.Ile125Val
- NP_001395364.1:p.Ile125Val
- NP_001395365.1:p.Ile125Val
- NP_001395366.1:p.Ile125Val
- NP_001395367.1:p.Ile125Val
- NP_001395368.1:p.Ile125Val
- NP_001395369.1:p.Ile125Val
- NP_001395370.1:p.Ile125Val
- NP_001395371.1:p.Ile125Val
- NP_001395372.1:p.Ile125Val
- NP_001395373.1:p.Ile125Val
- NP_001395374.1:p.Ile125Val
- NP_001395375.1:p.Ile125Val
- NP_001395376.1:p.Ile125Val
- NP_001395377.1:p.Ile125Val
- NP_001395379.1:p.Ile125Val
- NP_001395380.1:p.Ile81Val
- NP_001395381.1:p.Ile78Val
- NP_001395382.1:p.Ile78Val
- NP_001395383.1:p.Ile78Val
- NP_001395384.1:p.Ile78Val
- NP_001395385.1:p.Ile78Val
- NP_001395386.1:p.Ile78Val
- NP_001395387.1:p.Ile78Val
- NP_001395388.1:p.Ile78Val
- NP_001395389.1:p.Ile78Val
- NP_001395390.1:p.Ile78Val
- NP_001395391.1:p.Ile78Val
- NP_001395392.1:p.Ile78Val
- NP_001395393.1:p.Ile78Val
- NP_001395394.1:p.Ile78Val
- NP_001395395.1:p.Ile78Val
- NP_001395396.1:p.Ile78Val
- NP_001395397.1:p.Ile78Val
- NP_001395398.1:p.Ile78Val
- NP_001395399.1:p.Ile78Val
- NP_001395401.1:p.Ile125Val
- NP_001395402.1:p.Ile125Val
- NP_001395403.1:p.Ile99Val
- NP_001395404.1:p.Ile99Val
- NP_001395405.1:p.Ile99Val
- NP_001395407.1:p.Ile55Val
- NP_001395408.1:p.Ile55Val
- NP_001395409.1:p.Ile55Val
- NP_001395410.1:p.Ile55Val
- NP_001395411.1:p.Ile55Val
- NP_001395412.1:p.Ile55Val
- NP_001395413.1:p.Ile55Val
- NP_001395414.1:p.Ile55Val
- NP_001395418.1:p.Ile55Val
- NP_001395419.1:p.Ile55Val
- NP_001395420.1:p.Ile55Val
- NP_001395421.1:p.Ile55Val
- NP_001395422.1:p.Ile55Val
- NP_001395423.1:p.Ile125Val
- NP_001395424.1:p.Ile125Val
- NP_001395425.1:p.Ile78Val
- NP_001395426.1:p.Ile78Val
- NP_001395427.1:p.Ile78Val
- NP_001395428.1:p.Ile78Val
- NP_001395429.1:p.Ile78Val
- NP_001395430.1:p.Ile78Val
- NP_001395431.1:p.Ile55Val
- NP_001395432.1:p.Ile78Val
- NP_001395433.1:p.Ile78Val
- NP_001395434.1:p.Ile78Val
- NP_001395435.1:p.Ile55Val
- NP_001395436.1:p.Ile55Val
- NP_001395437.1:p.Ile55Val
- NP_001395438.1:p.Ile55Val
- NP_001395440.1:p.Ile78Val
- NP_001395442.1:p.Ile55Val
- NP_001395443.1:p.Ile55Val
- NP_009225.1:p.Ile125Val
- NP_009225.1:p.Ile125Val
- NP_009228.2:p.Ile78Val
- NP_009229.2:p.Ile125Val
- NP_009229.2:p.Ile125Val
- NP_009230.2:p.Ile125Val
- NP_009231.2:p.Ile125Val
- NP_009235.2:p.Ile125Val
- LRG_292t1:c.373A>G
- LRG_292:g.113794A>G
- LRG_292p1:p.Ile125Val
- NC_000017.10:g.41256207T>C
- NM_007294.3:c.373A>G
- NM_007298.3:c.373A>G
- NR_027676.2:n.553A>G
This HGVS expression did not pass validation- Nucleotide change:
- 492A>G
- Protein change:
- I122V
- Links:
- dbSNP: rs587776489
- NCBI 1000 Genomes Browser:
- rs587776489
- Molecular consequence:
- NM_001407571.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.364A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.364A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407942.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407943.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407944.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407945.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.364A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408410.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408451.1:c.241A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408452.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408453.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408454.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408455.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408456.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408457.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408458.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408459.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408460.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408461.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408462.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408463.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408464.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408465.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408466.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408467.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408468.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408469.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408470.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.295A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408478.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408479.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408480.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408481.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408482.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408483.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408484.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408485.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408489.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408490.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408491.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408492.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408493.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408496.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408497.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408498.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408499.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408500.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408501.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408502.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408503.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408504.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408505.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408506.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408507.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408508.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408509.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408511.1:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408513.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408514.1:c.163A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.232A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.373A>G - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.553A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000564713 | GeneDx | criteria provided, single submitter (GeneDx Variant Classification (06012015)) | Uncertain significance (Feb 12, 2015) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
Details of each submission
From GeneDx, SCV000564713.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
This variant is denoted BRCA1 c.373A>G at the cDNA level, p.Ile125Val (I125V) at the protein level, and results in the change of an Isoleucine to a Valine (ATC>GTC). Using alternate nomenclature, this variant would be defined as BRCA1 492A>G. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 Ile125Val was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Isoleucine and Valine share similar properties, this is considered a conservative amino acid substitution. BRCA1 Ile125Val occurs at a position that is conserved across species and is not located in a known functional domain. In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether BRCA1 Ile125Val is pathogenic or benign. We consider it to be a variant of uncertain significance.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Mar 30, 2024