NM_007294.4(BRCA1):c.124A>G (p.Ile42Val) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Conflicting interpretations of pathogenicity (5 submissions)
Last evaluated:: Jun 8, 2023
Review status:: criteria provided, conflicting classifications

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:: RCV000083167.17

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)

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000115241	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Uncertain significance (May 1, 2012)	germline	clinical testing
SCV000144379	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Uncertain significance (Mar 24, 1999)	germline	clinical testing
SCV001237892	Brotman Baty Institute, University of Washington	no classification provided	not provided	not applicable	in vitro	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV004019715	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Likely benign (Apr 3, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV004823699	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain Significance (Jun 8, 2023)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 11320250, 21725363, 23161852, 30209399, 30696104, 25741868

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	108544	not provided	clinical testing
not provided	germline	not provided	1	not provided	not provided	1	not provided	clinical testing
not provided	not applicable	not applicable	not provided	not provided	not provided	not provided	not provided	in vitro
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.

Pruss D, Morris B, Hughes E, Eggington JM, Esterling L, Robinson BS, van Kan A, Fernandes PH, Roa BB, Gutin A, Wenstrup RJ, Bowles KR.

Breast Cancer Res Treat. 2014 Aug;147(1):119-32. doi: 10.1007/s10549-014-3065-9. Epub 2014 Aug 2.

PubMed [citation]

PMID:: 25085752

Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity.

Ruffner H, Joazeiro CA, Hemmati D, Hunter T, Verma IM.

Proc Natl Acad Sci U S A. 2001 Apr 24;98(9):5134-9.

PubMed [citation]

PMID:: 11320250
PMCID:: PMC33176

See all PubMed Citations (7)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000115241.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144379.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	not provided

#	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		3	not provided	not provided	not provided

From Brotman Baty Institute, University of Washington, SCV001237892.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	in vitro	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not applicable	not applicable	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Myriad Genetics, Inc., SCV004019715.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant is considered likely benign. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 25085752].

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From All of Us Research Program, National Institutes of Health, SCV004823699.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (6)

Description

This missense variant replaces isoleucine with valine at codon 42 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). Functional studies have reported that this variant does not impact BRCA1 function in a haploid cell proliferation assay, homology-directed DNA repair, ubiquitin ligase assays and in the rescue of cell survival to ionizing radiation in Brca1-null cells (PMID: 11320250, 21725363, 23161852, 30209399, 30696104). To our knowledge, this variant has not been reported in individuals affected with BRCA1-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Although there is a suspicion that this variant may not be associated with disease, additional clinical studies are necessary to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	108544	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 10, 2024

ClinVar

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