NM_007294.4(BRCA1):c.124A>G (p.Ile42Val) AND not specified
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 8, 2023
- 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:
- RCV001175357.10
Allele description [Variation Report for NM_007294.4(BRCA1):c.124A>G (p.Ile42Val)]
NM_007294.4(BRCA1):c.124A>G (p.Ile42Val)
- 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.124A>G (p.Ile42Val)
- HGVS:
- NC_000017.11:g.43115736T>C
- NG_005905.2:g.102248A>G
- NM_001407571.1:c.-65A>G
- NM_001407581.1:c.124A>G
- NM_001407582.1:c.124A>G
- NM_001407583.1:c.124A>G
- NM_001407585.1:c.124A>G
- NM_001407587.1:c.124A>G
- NM_001407590.1:c.124A>G
- NM_001407591.1:c.124A>G
- NM_001407593.1:c.124A>G
- NM_001407594.1:c.124A>G
- NM_001407596.1:c.124A>G
- NM_001407597.1:c.124A>G
- NM_001407598.1:c.124A>G
- NM_001407602.1:c.124A>G
- NM_001407603.1:c.124A>G
- NM_001407605.1:c.124A>G
- NM_001407610.1:c.124A>G
- NM_001407611.1:c.124A>G
- NM_001407612.1:c.124A>G
- NM_001407613.1:c.124A>G
- NM_001407614.1:c.124A>G
- NM_001407615.1:c.124A>G
- NM_001407616.1:c.124A>G
- NM_001407617.1:c.124A>G
- NM_001407618.1:c.124A>G
- NM_001407619.1:c.124A>G
- NM_001407620.1:c.124A>G
- NM_001407621.1:c.124A>G
- NM_001407622.1:c.124A>G
- NM_001407623.1:c.124A>G
- NM_001407624.1:c.124A>G
- NM_001407625.1:c.124A>G
- NM_001407626.1:c.124A>G
- NM_001407627.1:c.124A>G
- NM_001407628.1:c.124A>G
- NM_001407629.1:c.124A>G
- NM_001407630.1:c.124A>G
- NM_001407631.1:c.124A>G
- NM_001407632.1:c.124A>G
- NM_001407633.1:c.124A>G
- NM_001407634.1:c.124A>G
- NM_001407635.1:c.124A>G
- NM_001407636.1:c.124A>G
- NM_001407637.1:c.124A>G
- NM_001407638.1:c.124A>G
- NM_001407639.1:c.124A>G
- NM_001407640.1:c.124A>G
- NM_001407641.1:c.124A>G
- NM_001407642.1:c.124A>G
- NM_001407644.1:c.124A>G
- NM_001407645.1:c.124A>G
- NM_001407646.1:c.124A>G
- NM_001407647.1:c.124A>G
- NM_001407648.1:c.124A>G
- NM_001407649.1:c.124A>G
- NM_001407652.1:c.124A>G
- NM_001407653.1:c.124A>G
- NM_001407654.1:c.124A>G
- NM_001407655.1:c.124A>G
- NM_001407656.1:c.124A>G
- NM_001407657.1:c.124A>G
- NM_001407658.1:c.124A>G
- NM_001407659.1:c.124A>G
- NM_001407660.1:c.124A>G
- NM_001407661.1:c.124A>G
- NM_001407662.1:c.124A>G
- NM_001407663.1:c.124A>G
- NM_001407664.1:c.124A>G
- NM_001407665.1:c.124A>G
- NM_001407666.1:c.124A>G
- NM_001407667.1:c.124A>G
- NM_001407668.1:c.124A>G
- NM_001407669.1:c.124A>G
- NM_001407670.1:c.124A>G
- NM_001407671.1:c.124A>G
- NM_001407672.1:c.124A>G
- NM_001407673.1:c.124A>G
- NM_001407674.1:c.124A>G
- NM_001407675.1:c.124A>G
- NM_001407676.1:c.124A>G
- NM_001407677.1:c.124A>G
- NM_001407678.1:c.124A>G
- NM_001407679.1:c.124A>G
- NM_001407680.1:c.124A>G
- NM_001407681.1:c.124A>G
- NM_001407682.1:c.124A>G
- NM_001407683.1:c.124A>G
- NM_001407684.1:c.124A>G
- NM_001407685.1:c.124A>G
- NM_001407686.1:c.124A>G
- NM_001407687.1:c.124A>G
- NM_001407688.1:c.124A>G
- NM_001407689.1:c.124A>G
- NM_001407690.1:c.124A>G
- NM_001407691.1:c.124A>G
- NM_001407694.1:c.-134A>G
- NM_001407695.1:c.-138A>G
- NM_001407696.1:c.-134A>G
- NM_001407697.1:c.-18A>G
- NM_001407724.1:c.-134A>G
- NM_001407725.1:c.-18A>G
- NM_001407727.1:c.-134A>G
- NM_001407728.1:c.-18A>G
- NM_001407729.1:c.-18A>G
- NM_001407730.1:c.-18A>G
- NM_001407731.1:c.-134A>G
- NM_001407733.1:c.-134A>G
- NM_001407734.1:c.-18A>G
- NM_001407735.1:c.-18A>G
- NM_001407737.1:c.-18A>G
- NM_001407739.1:c.-18A>G
- NM_001407740.1:c.-18A>G
- NM_001407741.1:c.-18A>G
- NM_001407743.1:c.-18A>G
- NM_001407745.1:c.-18A>G
- NM_001407746.1:c.-134A>G
- NM_001407748.1:c.-18A>G
- NM_001407749.1:c.-134A>G
- NM_001407752.1:c.-18A>G
- NM_001407838.1:c.-18A>G
- NM_001407839.1:c.-18A>G
- NM_001407841.1:c.-14A>G
- NM_001407842.1:c.-134A>G
- NM_001407843.1:c.-134A>G
- NM_001407844.1:c.-18A>G
- NM_001407846.1:c.-18A>G
- NM_001407847.1:c.-18A>G
- NM_001407848.1:c.-18A>G
- NM_001407850.1:c.-18A>G
- NM_001407851.1:c.-18A>G
- NM_001407853.1:c.-65A>G
- NM_001407854.1:c.124A>G
- NM_001407858.1:c.124A>G
- NM_001407859.1:c.124A>G
- NM_001407860.1:c.124A>G
- NM_001407861.1:c.124A>G
- NM_001407862.1:c.124A>G
- NM_001407863.1:c.124A>G
- NM_001407874.1:c.124A>G
- NM_001407875.1:c.124A>G
- NM_001407879.1:c.-65A>G
- NM_001407882.1:c.-65A>G
- NM_001407884.1:c.-65A>G
- NM_001407885.1:c.-65A>G
- NM_001407886.1:c.-65A>G
- NM_001407887.1:c.-65A>G
- NM_001407889.1:c.-181A>G
- NM_001407894.1:c.-65A>G
- NM_001407895.1:c.-65A>G
- NM_001407896.1:c.-65A>G
- NM_001407897.1:c.-65A>G
- NM_001407899.1:c.-65A>G
- NM_001407900.1:c.-181A>G
- NM_001407904.1:c.-65A>G
- NM_001407906.1:c.-65A>G
- NM_001407907.1:c.-65A>G
- NM_001407908.1:c.-65A>G
- NM_001407909.1:c.-65A>G
- NM_001407910.1:c.-65A>G
- NM_001407915.1:c.-65A>G
- NM_001407916.1:c.-65A>G
- NM_001407917.1:c.-65A>G
- NM_001407918.1:c.-65A>G
- NM_001407919.1:c.124A>G
- NM_001407920.1:c.-18A>G
- NM_001407921.1:c.-18A>G
- NM_001407922.1:c.-18A>G
- NM_001407923.1:c.-18A>G
- NM_001407926.1:c.-18A>G
- NM_001407927.1:c.-18A>G
- NM_001407930.1:c.-134A>G
- NM_001407933.1:c.-18A>G
- NM_001407934.1:c.-18A>G
- NM_001407935.1:c.-18A>G
- NM_001407937.1:c.124A>G
- NM_001407938.1:c.124A>G
- NM_001407939.1:c.124A>G
- NM_001407940.1:c.124A>G
- NM_001407941.1:c.124A>G
- NM_001407942.1:c.-134A>G
- NM_001407943.1:c.-18A>G
- NM_001407944.1:c.-18A>G
- NM_001407946.1:c.-65A>G
- NM_001407947.1:c.-65A>G
- NM_001407948.1:c.-65A>G
- NM_001407949.1:c.-65A>G
- NM_001407950.1:c.-65A>G
- NM_001407951.1:c.-65A>G
- NM_001407952.1:c.-65A>G
- NM_001407953.1:c.-65A>G
- NM_001407954.1:c.-65A>G
- NM_001407955.1:c.-65A>G
- NM_001407956.1:c.-65A>G
- NM_001407957.1:c.-65A>G
- NM_001407958.1:c.-65A>G
- NM_001407960.1:c.-180A>G
- NM_001407962.1:c.-180A>G
- NM_001407964.1:c.-18A>G
- NM_001407965.1:c.-296A>G
- NM_001407968.1:c.124A>G
- NM_001407969.1:c.124A>G
- NM_001407970.1:c.124A>G
- NM_001407971.1:c.124A>G
- NM_001407972.1:c.124A>G
- NM_001407973.1:c.124A>G
- NM_001407974.1:c.124A>G
- NM_001407975.1:c.124A>G
- NM_001407976.1:c.124A>G
- NM_001407977.1:c.124A>G
- NM_001407978.1:c.124A>G
- NM_001407979.1:c.124A>G
- NM_001407980.1:c.124A>G
- NM_001407981.1:c.124A>G
- NM_001407982.1:c.124A>G
- NM_001407983.1:c.124A>G
- NM_001407984.1:c.124A>G
- NM_001407985.1:c.124A>G
- NM_001407986.1:c.124A>G
- NM_001407990.1:c.124A>G
- NM_001407991.1:c.124A>G
- NM_001407992.1:c.124A>G
- NM_001407993.1:c.124A>G
- NM_001408392.1:c.124A>G
- NM_001408396.1:c.124A>G
- NM_001408397.1:c.124A>G
- NM_001408398.1:c.124A>G
- NM_001408399.1:c.124A>G
- NM_001408400.1:c.124A>G
- NM_001408401.1:c.124A>G
- NM_001408402.1:c.124A>G
- NM_001408403.1:c.124A>G
- NM_001408404.1:c.124A>G
- NM_001408406.1:c.124A>G
- NM_001408407.1:c.124A>G
- NM_001408408.1:c.124A>G
- NM_001408409.1:c.124A>G
- NM_001408410.1:c.-18A>G
- NM_001408411.1:c.124A>G
- NM_001408412.1:c.124A>G
- NM_001408413.1:c.124A>G
- NM_001408414.1:c.124A>G
- NM_001408415.1:c.124A>G
- NM_001408416.1:c.124A>G
- NM_001408418.1:c.124A>G
- NM_001408419.1:c.124A>G
- NM_001408420.1:c.124A>G
- NM_001408421.1:c.124A>G
- NM_001408422.1:c.124A>G
- NM_001408423.1:c.124A>G
- NM_001408424.1:c.124A>G
- NM_001408425.1:c.124A>G
- NM_001408426.1:c.124A>G
- NM_001408427.1:c.124A>G
- NM_001408428.1:c.124A>G
- NM_001408429.1:c.124A>G
- NM_001408430.1:c.124A>G
- NM_001408431.1:c.124A>G
- NM_001408432.1:c.124A>G
- NM_001408433.1:c.124A>G
- NM_001408434.1:c.124A>G
- NM_001408435.1:c.124A>G
- NM_001408436.1:c.124A>G
- NM_001408437.1:c.124A>G
- NM_001408438.1:c.124A>G
- NM_001408439.1:c.124A>G
- NM_001408440.1:c.124A>G
- NM_001408441.1:c.124A>G
- NM_001408442.1:c.124A>G
- NM_001408443.1:c.124A>G
- NM_001408444.1:c.124A>G
- NM_001408445.1:c.124A>G
- NM_001408446.1:c.124A>G
- NM_001408447.1:c.124A>G
- NM_001408448.1:c.124A>G
- NM_001408450.1:c.124A>G
- NM_001408452.1:c.-18A>G
- NM_001408453.1:c.-18A>G
- NM_001408455.1:c.-134A>G
- NM_001408456.1:c.-134A>G
- NM_001408458.1:c.-18A>G
- NM_001408462.1:c.-18A>G
- NM_001408463.1:c.-18A>G
- NM_001408465.1:c.-138A>G
- NM_001408466.1:c.-18A>G
- NM_001408468.1:c.-134A>G
- NM_001408469.1:c.-18A>G
- NM_001408470.1:c.-18A>G
- NM_001408472.1:c.124A>G
- NM_001408473.1:c.124A>G
- NM_001408474.1:c.124A>G
- NM_001408475.1:c.124A>G
- NM_001408476.1:c.124A>G
- NM_001408478.1:c.-65A>G
- NM_001408479.1:c.-65A>G
- NM_001408480.1:c.-65A>G
- NM_001408481.1:c.-65A>G
- NM_001408482.1:c.-65A>G
- NM_001408483.1:c.-65A>G
- NM_001408484.1:c.-65A>G
- NM_001408485.1:c.-65A>G
- NM_001408489.1:c.-65A>G
- NM_001408490.1:c.-65A>G
- NM_001408491.1:c.-65A>G
- NM_001408492.1:c.-181A>G
- NM_001408493.1:c.-65A>G
- NM_001408494.1:c.124A>G
- NM_001408495.1:c.124A>G
- NM_001408497.1:c.-18A>G
- NM_001408499.1:c.-18A>G
- NM_001408500.1:c.-18A>G
- NM_001408501.1:c.-134A>G
- NM_001408502.1:c.-65A>G
- NM_001408503.1:c.-18A>G
- NM_001408504.1:c.-18A>G
- NM_001408505.1:c.-18A>G
- NM_001408506.1:c.-65A>G
- NM_001408507.1:c.-65A>G
- NM_001408508.1:c.-65A>G
- NM_001408509.1:c.-65A>G
- NM_001408510.1:c.-180A>G
- NM_001408512.1:c.-180A>G
- NM_001408513.1:c.-65A>G
- NM_001408514.1:c.-65A>G
- NM_007294.4:c.124A>GMANE SELECT
- NM_007297.4:c.-8+8281A>G
- NM_007298.4:c.124A>G
- NM_007299.4:c.124A>G
- NM_007300.4:c.124A>G
- NM_007304.2:c.124A>G
- NP_001394510.1:p.Ile42Val
- NP_001394511.1:p.Ile42Val
- NP_001394512.1:p.Ile42Val
- NP_001394514.1:p.Ile42Val
- NP_001394516.1:p.Ile42Val
- NP_001394519.1:p.Ile42Val
- NP_001394520.1:p.Ile42Val
- NP_001394522.1:p.Ile42Val
- NP_001394523.1:p.Ile42Val
- NP_001394525.1:p.Ile42Val
- NP_001394526.1:p.Ile42Val
- NP_001394527.1:p.Ile42Val
- NP_001394531.1:p.Ile42Val
- NP_001394532.1:p.Ile42Val
- NP_001394534.1:p.Ile42Val
- NP_001394539.1:p.Ile42Val
- NP_001394540.1:p.Ile42Val
- NP_001394541.1:p.Ile42Val
- NP_001394542.1:p.Ile42Val
- NP_001394543.1:p.Ile42Val
- NP_001394544.1:p.Ile42Val
- NP_001394545.1:p.Ile42Val
- NP_001394546.1:p.Ile42Val
- NP_001394547.1:p.Ile42Val
- NP_001394548.1:p.Ile42Val
- NP_001394549.1:p.Ile42Val
- NP_001394550.1:p.Ile42Val
- NP_001394551.1:p.Ile42Val
- NP_001394552.1:p.Ile42Val
- NP_001394553.1:p.Ile42Val
- NP_001394554.1:p.Ile42Val
- NP_001394555.1:p.Ile42Val
- NP_001394556.1:p.Ile42Val
- NP_001394557.1:p.Ile42Val
- NP_001394558.1:p.Ile42Val
- NP_001394559.1:p.Ile42Val
- NP_001394560.1:p.Ile42Val
- NP_001394561.1:p.Ile42Val
- NP_001394562.1:p.Ile42Val
- NP_001394563.1:p.Ile42Val
- NP_001394564.1:p.Ile42Val
- NP_001394565.1:p.Ile42Val
- NP_001394566.1:p.Ile42Val
- NP_001394567.1:p.Ile42Val
- NP_001394568.1:p.Ile42Val
- NP_001394569.1:p.Ile42Val
- NP_001394570.1:p.Ile42Val
- NP_001394571.1:p.Ile42Val
- NP_001394573.1:p.Ile42Val
- NP_001394574.1:p.Ile42Val
- NP_001394575.1:p.Ile42Val
- NP_001394576.1:p.Ile42Val
- NP_001394577.1:p.Ile42Val
- NP_001394578.1:p.Ile42Val
- NP_001394581.1:p.Ile42Val
- NP_001394582.1:p.Ile42Val
- NP_001394583.1:p.Ile42Val
- NP_001394584.1:p.Ile42Val
- NP_001394585.1:p.Ile42Val
- NP_001394586.1:p.Ile42Val
- NP_001394587.1:p.Ile42Val
- NP_001394588.1:p.Ile42Val
- NP_001394589.1:p.Ile42Val
- NP_001394590.1:p.Ile42Val
- NP_001394591.1:p.Ile42Val
- NP_001394592.1:p.Ile42Val
- NP_001394593.1:p.Ile42Val
- NP_001394594.1:p.Ile42Val
- NP_001394595.1:p.Ile42Val
- NP_001394596.1:p.Ile42Val
- NP_001394597.1:p.Ile42Val
- NP_001394598.1:p.Ile42Val
- NP_001394599.1:p.Ile42Val
- NP_001394600.1:p.Ile42Val
- NP_001394601.1:p.Ile42Val
- NP_001394602.1:p.Ile42Val
- NP_001394603.1:p.Ile42Val
- NP_001394604.1:p.Ile42Val
- NP_001394605.1:p.Ile42Val
- NP_001394606.1:p.Ile42Val
- NP_001394607.1:p.Ile42Val
- NP_001394608.1:p.Ile42Val
- NP_001394609.1:p.Ile42Val
- NP_001394610.1:p.Ile42Val
- NP_001394611.1:p.Ile42Val
- NP_001394612.1:p.Ile42Val
- NP_001394613.1:p.Ile42Val
- NP_001394614.1:p.Ile42Val
- NP_001394615.1:p.Ile42Val
- NP_001394616.1:p.Ile42Val
- NP_001394617.1:p.Ile42Val
- NP_001394618.1:p.Ile42Val
- NP_001394619.1:p.Ile42Val
- NP_001394620.1:p.Ile42Val
- NP_001394783.1:p.Ile42Val
- NP_001394787.1:p.Ile42Val
- NP_001394788.1:p.Ile42Val
- NP_001394789.1:p.Ile42Val
- NP_001394790.1:p.Ile42Val
- NP_001394791.1:p.Ile42Val
- NP_001394792.1:p.Ile42Val
- NP_001394803.1:p.Ile42Val
- NP_001394804.1:p.Ile42Val
- NP_001394848.1:p.Ile42Val
- NP_001394866.1:p.Ile42Val
- NP_001394867.1:p.Ile42Val
- NP_001394868.1:p.Ile42Val
- NP_001394869.1:p.Ile42Val
- NP_001394870.1:p.Ile42Val
- NP_001394897.1:p.Ile42Val
- NP_001394898.1:p.Ile42Val
- NP_001394899.1:p.Ile42Val
- NP_001394900.1:p.Ile42Val
- NP_001394901.1:p.Ile42Val
- NP_001394902.1:p.Ile42Val
- NP_001394903.1:p.Ile42Val
- NP_001394904.1:p.Ile42Val
- NP_001394905.1:p.Ile42Val
- NP_001394906.1:p.Ile42Val
- NP_001394907.1:p.Ile42Val
- NP_001394908.1:p.Ile42Val
- NP_001394909.1:p.Ile42Val
- NP_001394910.1:p.Ile42Val
- NP_001394911.1:p.Ile42Val
- NP_001394912.1:p.Ile42Val
- NP_001394913.1:p.Ile42Val
- NP_001394914.1:p.Ile42Val
- NP_001394915.1:p.Ile42Val
- NP_001394919.1:p.Ile42Val
- NP_001394920.1:p.Ile42Val
- NP_001394921.1:p.Ile42Val
- NP_001394922.1:p.Ile42Val
- NP_001395321.1:p.Ile42Val
- NP_001395325.1:p.Ile42Val
- NP_001395326.1:p.Ile42Val
- NP_001395327.1:p.Ile42Val
- NP_001395328.1:p.Ile42Val
- NP_001395329.1:p.Ile42Val
- NP_001395330.1:p.Ile42Val
- NP_001395331.1:p.Ile42Val
- NP_001395332.1:p.Ile42Val
- NP_001395333.1:p.Ile42Val
- NP_001395335.1:p.Ile42Val
- NP_001395336.1:p.Ile42Val
- NP_001395337.1:p.Ile42Val
- NP_001395338.1:p.Ile42Val
- NP_001395340.1:p.Ile42Val
- NP_001395341.1:p.Ile42Val
- NP_001395342.1:p.Ile42Val
- NP_001395343.1:p.Ile42Val
- NP_001395344.1:p.Ile42Val
- NP_001395345.1:p.Ile42Val
- NP_001395347.1:p.Ile42Val
- NP_001395348.1:p.Ile42Val
- NP_001395349.1:p.Ile42Val
- NP_001395350.1:p.Ile42Val
- NP_001395351.1:p.Ile42Val
- NP_001395352.1:p.Ile42Val
- NP_001395353.1:p.Ile42Val
- NP_001395354.1:p.Ile42Val
- NP_001395355.1:p.Ile42Val
- NP_001395356.1:p.Ile42Val
- NP_001395357.1:p.Ile42Val
- NP_001395358.1:p.Ile42Val
- NP_001395359.1:p.Ile42Val
- NP_001395360.1:p.Ile42Val
- NP_001395361.1:p.Ile42Val
- NP_001395362.1:p.Ile42Val
- NP_001395363.1:p.Ile42Val
- NP_001395364.1:p.Ile42Val
- NP_001395365.1:p.Ile42Val
- NP_001395366.1:p.Ile42Val
- NP_001395367.1:p.Ile42Val
- NP_001395368.1:p.Ile42Val
- NP_001395369.1:p.Ile42Val
- NP_001395370.1:p.Ile42Val
- NP_001395371.1:p.Ile42Val
- NP_001395372.1:p.Ile42Val
- NP_001395373.1:p.Ile42Val
- NP_001395374.1:p.Ile42Val
- NP_001395375.1:p.Ile42Val
- NP_001395376.1:p.Ile42Val
- NP_001395377.1:p.Ile42Val
- NP_001395379.1:p.Ile42Val
- NP_001395401.1:p.Ile42Val
- NP_001395402.1:p.Ile42Val
- NP_001395403.1:p.Ile42Val
- NP_001395404.1:p.Ile42Val
- NP_001395405.1:p.Ile42Val
- NP_001395423.1:p.Ile42Val
- NP_001395424.1:p.Ile42Val
- NP_009225.1:p.Ile42Val
- NP_009225.1:p.Ile42Val
- NP_009229.2:p.Ile42Val
- NP_009229.2:p.Ile42Val
- NP_009230.2:p.Ile42Val
- NP_009231.2:p.Ile42Val
- NP_009235.2:p.Ile42Val
- LRG_292t1:c.124A>G
- LRG_292:g.102248A>G
- LRG_292p1:p.Ile42Val
- NC_000017.10:g.41267753T>C
- NM_007294.3:c.124A>G
- NM_007298.3:c.124A>G
- NR_027676.2:n.326A>G
- U14680.1:n.243A>G
This HGVS expression did not pass validation- Protein change:
- I42V
- Links:
- dbSNP: rs80357163
- NCBI 1000 Genomes Browser:
- rs80357163
- Molecular consequence:
- NM_007297.4:c.-8+8281A>G - intron variant - [Sequence Ontology: SO:0001627]
- NM_001407581.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407854.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407858.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407859.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407860.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407861.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407937.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407938.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407939.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407940.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407941.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408472.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408473.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007299.4:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.124A>G - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.326A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- Functional consequence:
- functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.124A>G, a MISSENSE variant, produced a function score of 0.11, corresponding to a functional classification of FUNCTIONAL. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12.
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000698840 | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) | Likely benign (Jun 8, 2023) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.
Abkevich V, Zharkikh A, Deffenbaugh AM, Frank D, Chen Y, Shattuck D, Skolnick MH, Gutin A, Tavtigian SV.
J Med Genet. 2004 Jul;41(7):492-507.
- PMID:
- 15235020
- PMCID:
- PMC1735826
Towler WI, Zhang J, Ransburgh DJ, Toland AE, Ishioka C, Chiba N, Parvin JD.
Hum Mutat. 2013 Mar;34(3):439-45. doi: 10.1002/humu.22251. Epub 2012 Dec 12.
- PMID:
- 23161852
- PMCID:
- PMC3906639
Details of each submission
From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698840.3
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (12) |
Description
Variant summary: BRCA1 c.124A>G (p.Ile42Val) results in a conservative amino acid change located in the RING-type zinc finger domain (IPR001841) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 250738 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.124A>G in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome has been reported. Multiple studies have shown this variant protein retains normal activity (Ransburgh_2010, Starita_2018, Findlay_2018 Caleca_2019). At least one study showed no damaging effect of this variant on homology directed repair (HDR) activity (e.g. Findlay_2018). HDR assays qualify as a recognized gold standard on the basis of updated guidance provided by the ClinGen Sequence Variant Interpretation (SVI) working group. The following publications have been ascertained in the context of this evaluation (PMID: 15235020, 30696104, 30209399, 24411079, 21725363, 24289923, 16403807, 20103620, 11320250, 30219179, 25823446, 23161852). Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as likely benign (n=2) or uncertain significance (n=1). Based on the evidence outlined above, the variant was classified as likely benign.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Sep 8, 2024