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NM_007294.4(BRCA1):c.124A>G (p.Ile42Val) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 16, 2023
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:
RCV003476945.1

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
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)

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004222555Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Feb 16, 2023) 		unknownclinical testing

PubMed (12)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes.

Caleca L, Colombo M, van Overeem Hansen T, Lázaro C, Manoukian S, Parsons MT, Spurdle AB, Radice P.

Cancers (Basel). 2019 Jan 28;11(2). doi:pii: E151. 10.3390/cancers11020151.

PubMed [citation]
PMID:
30696104
PMCID:
PMC6406614

A Multiplex Homology-Directed DNA Repair Assay Reveals the Impact of More Than 1,000 BRCA1 Missense Substitution Variants on Protein Function.

Starita LM, Islam MM, Banerjee T, Adamovich AI, Gullingsrud J, Fields S, Shendure J, Parvin JD.

Am J Hum Genet. 2018 Oct 4;103(4):498-508. doi: 10.1016/j.ajhg.2018.07.016. Epub 2018 Sep 12.

PubMed [citation]
PMID:
30219179
PMCID:
PMC6174279
See all PubMed Citations (12)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004222555.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (12)

Description

The frequency of this variant in the general population, 0.00021 (1/4830 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Published functional studies have shown that this variant does not affect the BRCA1 function of DNA double-strand break repair (PMIDs: 30696104 (2018), 30219179 (2018), 30209399 (2018), 25823446 (2015), 23161852 (2013), 11320250 (2001), 15235020 (2004), 21725363 (2012), 20103620 (2010), 16403807 (2006)), but is deficient in the function of regulating centrosome number (PMIDs: 24288923 (2013), 23161852 (2013)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is benign or damaging. Based on the available information, we are unable to determine the clinical significance of this variant.

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

Last Updated: Nov 10, 2024