NM_007294.4(BRCA1):c.122A>G (p.His41Arg) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Feb 26, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000047383.18

Allele description [Variation Report for NM_007294.4(BRCA1):c.122A>G (p.His41Arg)]

NM_007294.4(BRCA1):c.122A>G (p.His41Arg)

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.122A>G (p.His41Arg)

Other names:

241A>G

HGVS:

NC_000017.11:g.43115738T>C
NG_005905.2:g.102246A>G
NM_001407571.1:c.-67A>G
NM_001407581.1:c.122A>G
NM_001407582.1:c.122A>G
NM_001407583.1:c.122A>G
NM_001407585.1:c.122A>G
NM_001407587.1:c.122A>G
NM_001407590.1:c.122A>G
NM_001407591.1:c.122A>G
NM_001407593.1:c.122A>G
NM_001407594.1:c.122A>G
NM_001407596.1:c.122A>G
NM_001407597.1:c.122A>G
NM_001407598.1:c.122A>G
NM_001407602.1:c.122A>G
NM_001407603.1:c.122A>G
NM_001407605.1:c.122A>G
NM_001407610.1:c.122A>G
NM_001407611.1:c.122A>G
NM_001407612.1:c.122A>G
NM_001407613.1:c.122A>G
NM_001407614.1:c.122A>G
NM_001407615.1:c.122A>G
NM_001407616.1:c.122A>G
NM_001407617.1:c.122A>G
NM_001407618.1:c.122A>G
NM_001407619.1:c.122A>G
NM_001407620.1:c.122A>G
NM_001407621.1:c.122A>G
NM_001407622.1:c.122A>G
NM_001407623.1:c.122A>G
NM_001407624.1:c.122A>G
NM_001407625.1:c.122A>G
NM_001407626.1:c.122A>G
NM_001407627.1:c.122A>G
NM_001407628.1:c.122A>G
NM_001407629.1:c.122A>G
NM_001407630.1:c.122A>G
NM_001407631.1:c.122A>G
NM_001407632.1:c.122A>G
NM_001407633.1:c.122A>G
NM_001407634.1:c.122A>G
NM_001407635.1:c.122A>G
NM_001407636.1:c.122A>G
NM_001407637.1:c.122A>G
NM_001407638.1:c.122A>G
NM_001407639.1:c.122A>G
NM_001407640.1:c.122A>G
NM_001407641.1:c.122A>G
NM_001407642.1:c.122A>G
NM_001407644.1:c.122A>G
NM_001407645.1:c.122A>G
NM_001407646.1:c.122A>G
NM_001407647.1:c.122A>G
NM_001407648.1:c.122A>G
NM_001407649.1:c.122A>G
NM_001407652.1:c.122A>G
NM_001407653.1:c.122A>G
NM_001407654.1:c.122A>G
NM_001407655.1:c.122A>G
NM_001407656.1:c.122A>G
NM_001407657.1:c.122A>G
NM_001407658.1:c.122A>G
NM_001407659.1:c.122A>G
NM_001407660.1:c.122A>G
NM_001407661.1:c.122A>G
NM_001407662.1:c.122A>G
NM_001407663.1:c.122A>G
NM_001407664.1:c.122A>G
NM_001407665.1:c.122A>G
NM_001407666.1:c.122A>G
NM_001407667.1:c.122A>G
NM_001407668.1:c.122A>G
NM_001407669.1:c.122A>G
NM_001407670.1:c.122A>G
NM_001407671.1:c.122A>G
NM_001407672.1:c.122A>G
NM_001407673.1:c.122A>G
NM_001407674.1:c.122A>G
NM_001407675.1:c.122A>G
NM_001407676.1:c.122A>G
NM_001407677.1:c.122A>G
NM_001407678.1:c.122A>G
NM_001407679.1:c.122A>G
NM_001407680.1:c.122A>G
NM_001407681.1:c.122A>G
NM_001407682.1:c.122A>G
NM_001407683.1:c.122A>G
NM_001407684.1:c.122A>G
NM_001407685.1:c.122A>G
NM_001407686.1:c.122A>G
NM_001407687.1:c.122A>G
NM_001407688.1:c.122A>G
NM_001407689.1:c.122A>G
NM_001407690.1:c.122A>G
NM_001407691.1:c.122A>G
NM_001407694.1:c.-136A>G
NM_001407695.1:c.-140A>G
NM_001407696.1:c.-136A>G
NM_001407697.1:c.-20A>G
NM_001407724.1:c.-136A>G
NM_001407725.1:c.-20A>G
NM_001407727.1:c.-136A>G
NM_001407728.1:c.-20A>G
NM_001407729.1:c.-20A>G
NM_001407730.1:c.-20A>G
NM_001407731.1:c.-136A>G
NM_001407733.1:c.-136A>G
NM_001407734.1:c.-20A>G
NM_001407735.1:c.-20A>G
NM_001407737.1:c.-20A>G
NM_001407739.1:c.-20A>G
NM_001407740.1:c.-20A>G
NM_001407741.1:c.-20A>G
NM_001407743.1:c.-20A>G
NM_001407745.1:c.-20A>G
NM_001407746.1:c.-136A>G
NM_001407748.1:c.-20A>G
NM_001407749.1:c.-136A>G
NM_001407752.1:c.-20A>G
NM_001407838.1:c.-20A>G
NM_001407839.1:c.-20A>G
NM_001407841.1:c.-16A>G
NM_001407842.1:c.-136A>G
NM_001407843.1:c.-136A>G
NM_001407844.1:c.-20A>G
NM_001407846.1:c.-20A>G
NM_001407847.1:c.-20A>G
NM_001407848.1:c.-20A>G
NM_001407850.1:c.-20A>G
NM_001407851.1:c.-20A>G
NM_001407853.1:c.-67A>G
NM_001407854.1:c.122A>G
NM_001407858.1:c.122A>G
NM_001407859.1:c.122A>G
NM_001407860.1:c.122A>G
NM_001407861.1:c.122A>G
NM_001407862.1:c.122A>G
NM_001407863.1:c.122A>G
NM_001407874.1:c.122A>G
NM_001407875.1:c.122A>G
NM_001407879.1:c.-67A>G
NM_001407882.1:c.-67A>G
NM_001407884.1:c.-67A>G
NM_001407885.1:c.-67A>G
NM_001407886.1:c.-67A>G
NM_001407887.1:c.-67A>G
NM_001407889.1:c.-183A>G
NM_001407894.1:c.-67A>G
NM_001407895.1:c.-67A>G
NM_001407896.1:c.-67A>G
NM_001407897.1:c.-67A>G
NM_001407899.1:c.-67A>G
NM_001407900.1:c.-183A>G
NM_001407904.1:c.-67A>G
NM_001407906.1:c.-67A>G
NM_001407907.1:c.-67A>G
NM_001407908.1:c.-67A>G
NM_001407909.1:c.-67A>G
NM_001407910.1:c.-67A>G
NM_001407915.1:c.-67A>G
NM_001407916.1:c.-67A>G
NM_001407917.1:c.-67A>G
NM_001407918.1:c.-67A>G
NM_001407919.1:c.122A>G
NM_001407920.1:c.-20A>G
NM_001407921.1:c.-20A>G
NM_001407922.1:c.-20A>G
NM_001407923.1:c.-20A>G
NM_001407926.1:c.-20A>G
NM_001407927.1:c.-20A>G
NM_001407930.1:c.-136A>G
NM_001407933.1:c.-20A>G
NM_001407934.1:c.-20A>G
NM_001407935.1:c.-20A>G
NM_001407937.1:c.122A>G
NM_001407938.1:c.122A>G
NM_001407939.1:c.122A>G
NM_001407940.1:c.122A>G
NM_001407941.1:c.122A>G
NM_001407942.1:c.-136A>G
NM_001407943.1:c.-20A>G
NM_001407944.1:c.-20A>G
NM_001407946.1:c.-67A>G
NM_001407947.1:c.-67A>G
NM_001407948.1:c.-67A>G
NM_001407949.1:c.-67A>G
NM_001407950.1:c.-67A>G
NM_001407951.1:c.-67A>G
NM_001407952.1:c.-67A>G
NM_001407953.1:c.-67A>G
NM_001407954.1:c.-67A>G
NM_001407955.1:c.-67A>G
NM_001407956.1:c.-67A>G
NM_001407957.1:c.-67A>G
NM_001407958.1:c.-67A>G
NM_001407960.1:c.-182A>G
NM_001407962.1:c.-182A>G
NM_001407964.1:c.-20A>G
NM_001407965.1:c.-298A>G
NM_001407968.1:c.122A>G
NM_001407969.1:c.122A>G
NM_001407970.1:c.122A>G
NM_001407971.1:c.122A>G
NM_001407972.1:c.122A>G
NM_001407973.1:c.122A>G
NM_001407974.1:c.122A>G
NM_001407975.1:c.122A>G
NM_001407976.1:c.122A>G
NM_001407977.1:c.122A>G
NM_001407978.1:c.122A>G
NM_001407979.1:c.122A>G
NM_001407980.1:c.122A>G
NM_001407981.1:c.122A>G
NM_001407982.1:c.122A>G
NM_001407983.1:c.122A>G
NM_001407984.1:c.122A>G
NM_001407985.1:c.122A>G
NM_001407986.1:c.122A>G
NM_001407990.1:c.122A>G
NM_001407991.1:c.122A>G
NM_001407992.1:c.122A>G
NM_001407993.1:c.122A>G
NM_001408392.1:c.122A>G
NM_001408396.1:c.122A>G
NM_001408397.1:c.122A>G
NM_001408398.1:c.122A>G
NM_001408399.1:c.122A>G
NM_001408400.1:c.122A>G
NM_001408401.1:c.122A>G
NM_001408402.1:c.122A>G
NM_001408403.1:c.122A>G
NM_001408404.1:c.122A>G
NM_001408406.1:c.122A>G
NM_001408407.1:c.122A>G
NM_001408408.1:c.122A>G
NM_001408409.1:c.122A>G
NM_001408410.1:c.-20A>G
NM_001408411.1:c.122A>G
NM_001408412.1:c.122A>G
NM_001408413.1:c.122A>G
NM_001408414.1:c.122A>G
NM_001408415.1:c.122A>G
NM_001408416.1:c.122A>G
NM_001408418.1:c.122A>G
NM_001408419.1:c.122A>G
NM_001408420.1:c.122A>G
NM_001408421.1:c.122A>G
NM_001408422.1:c.122A>G
NM_001408423.1:c.122A>G
NM_001408424.1:c.122A>G
NM_001408425.1:c.122A>G
NM_001408426.1:c.122A>G
NM_001408427.1:c.122A>G
NM_001408428.1:c.122A>G
NM_001408429.1:c.122A>G
NM_001408430.1:c.122A>G
NM_001408431.1:c.122A>G
NM_001408432.1:c.122A>G
NM_001408433.1:c.122A>G
NM_001408434.1:c.122A>G
NM_001408435.1:c.122A>G
NM_001408436.1:c.122A>G
NM_001408437.1:c.122A>G
NM_001408438.1:c.122A>G
NM_001408439.1:c.122A>G
NM_001408440.1:c.122A>G
NM_001408441.1:c.122A>G
NM_001408442.1:c.122A>G
NM_001408443.1:c.122A>G
NM_001408444.1:c.122A>G
NM_001408445.1:c.122A>G
NM_001408446.1:c.122A>G
NM_001408447.1:c.122A>G
NM_001408448.1:c.122A>G
NM_001408450.1:c.122A>G
NM_001408452.1:c.-20A>G
NM_001408453.1:c.-20A>G
NM_001408455.1:c.-136A>G
NM_001408456.1:c.-136A>G
NM_001408458.1:c.-20A>G
NM_001408462.1:c.-20A>G
NM_001408463.1:c.-20A>G
NM_001408465.1:c.-140A>G
NM_001408466.1:c.-20A>G
NM_001408468.1:c.-136A>G
NM_001408469.1:c.-20A>G
NM_001408470.1:c.-20A>G
NM_001408472.1:c.122A>G
NM_001408473.1:c.122A>G
NM_001408474.1:c.122A>G
NM_001408475.1:c.122A>G
NM_001408476.1:c.122A>G
NM_001408478.1:c.-67A>G
NM_001408479.1:c.-67A>G
NM_001408480.1:c.-67A>G
NM_001408481.1:c.-67A>G
NM_001408482.1:c.-67A>G
NM_001408483.1:c.-67A>G
NM_001408484.1:c.-67A>G
NM_001408485.1:c.-67A>G
NM_001408489.1:c.-67A>G
NM_001408490.1:c.-67A>G
NM_001408491.1:c.-67A>G
NM_001408492.1:c.-183A>G
NM_001408493.1:c.-67A>G
NM_001408494.1:c.122A>G
NM_001408495.1:c.122A>G
NM_001408497.1:c.-20A>G
NM_001408499.1:c.-20A>G
NM_001408500.1:c.-20A>G
NM_001408501.1:c.-136A>G
NM_001408502.1:c.-67A>G
NM_001408503.1:c.-20A>G
NM_001408504.1:c.-20A>G
NM_001408505.1:c.-20A>G
NM_001408506.1:c.-67A>G
NM_001408507.1:c.-67A>G
NM_001408508.1:c.-67A>G
NM_001408509.1:c.-67A>G
NM_001408510.1:c.-182A>G
NM_001408512.1:c.-182A>G
NM_001408513.1:c.-67A>G
NM_001408514.1:c.-67A>G
NM_007294.4:c.122A>GMANE SELECT
NM_007297.4:c.-8+8279A>G
NM_007298.4:c.122A>G
NM_007299.4:c.122A>G
NM_007300.4:c.122A>G
NM_007304.2:c.122A>G
NP_001394510.1:p.His41Arg
NP_001394511.1:p.His41Arg
NP_001394512.1:p.His41Arg
NP_001394514.1:p.His41Arg
NP_001394516.1:p.His41Arg
NP_001394519.1:p.His41Arg
NP_001394520.1:p.His41Arg
NP_001394522.1:p.His41Arg
NP_001394523.1:p.His41Arg
NP_001394525.1:p.His41Arg
NP_001394526.1:p.His41Arg
NP_001394527.1:p.His41Arg
NP_001394531.1:p.His41Arg
NP_001394532.1:p.His41Arg
NP_001394534.1:p.His41Arg
NP_001394539.1:p.His41Arg
NP_001394540.1:p.His41Arg
NP_001394541.1:p.His41Arg
NP_001394542.1:p.His41Arg
NP_001394543.1:p.His41Arg
NP_001394544.1:p.His41Arg
NP_001394545.1:p.His41Arg
NP_001394546.1:p.His41Arg
NP_001394547.1:p.His41Arg
NP_001394548.1:p.His41Arg
NP_001394549.1:p.His41Arg
NP_001394550.1:p.His41Arg
NP_001394551.1:p.His41Arg
NP_001394552.1:p.His41Arg
NP_001394553.1:p.His41Arg
NP_001394554.1:p.His41Arg
NP_001394555.1:p.His41Arg
NP_001394556.1:p.His41Arg
NP_001394557.1:p.His41Arg
NP_001394558.1:p.His41Arg
NP_001394559.1:p.His41Arg
NP_001394560.1:p.His41Arg
NP_001394561.1:p.His41Arg
NP_001394562.1:p.His41Arg
NP_001394563.1:p.His41Arg
NP_001394564.1:p.His41Arg
NP_001394565.1:p.His41Arg
NP_001394566.1:p.His41Arg
NP_001394567.1:p.His41Arg
NP_001394568.1:p.His41Arg
NP_001394569.1:p.His41Arg
NP_001394570.1:p.His41Arg
NP_001394571.1:p.His41Arg
NP_001394573.1:p.His41Arg
NP_001394574.1:p.His41Arg
NP_001394575.1:p.His41Arg
NP_001394576.1:p.His41Arg
NP_001394577.1:p.His41Arg
NP_001394578.1:p.His41Arg
NP_001394581.1:p.His41Arg
NP_001394582.1:p.His41Arg
NP_001394583.1:p.His41Arg
NP_001394584.1:p.His41Arg
NP_001394585.1:p.His41Arg
NP_001394586.1:p.His41Arg
NP_001394587.1:p.His41Arg
NP_001394588.1:p.His41Arg
NP_001394589.1:p.His41Arg
NP_001394590.1:p.His41Arg
NP_001394591.1:p.His41Arg
NP_001394592.1:p.His41Arg
NP_001394593.1:p.His41Arg
NP_001394594.1:p.His41Arg
NP_001394595.1:p.His41Arg
NP_001394596.1:p.His41Arg
NP_001394597.1:p.His41Arg
NP_001394598.1:p.His41Arg
NP_001394599.1:p.His41Arg
NP_001394600.1:p.His41Arg
NP_001394601.1:p.His41Arg
NP_001394602.1:p.His41Arg
NP_001394603.1:p.His41Arg
NP_001394604.1:p.His41Arg
NP_001394605.1:p.His41Arg
NP_001394606.1:p.His41Arg
NP_001394607.1:p.His41Arg
NP_001394608.1:p.His41Arg
NP_001394609.1:p.His41Arg
NP_001394610.1:p.His41Arg
NP_001394611.1:p.His41Arg
NP_001394612.1:p.His41Arg
NP_001394613.1:p.His41Arg
NP_001394614.1:p.His41Arg
NP_001394615.1:p.His41Arg
NP_001394616.1:p.His41Arg
NP_001394617.1:p.His41Arg
NP_001394618.1:p.His41Arg
NP_001394619.1:p.His41Arg
NP_001394620.1:p.His41Arg
NP_001394783.1:p.His41Arg
NP_001394787.1:p.His41Arg
NP_001394788.1:p.His41Arg
NP_001394789.1:p.His41Arg
NP_001394790.1:p.His41Arg
NP_001394791.1:p.His41Arg
NP_001394792.1:p.His41Arg
NP_001394803.1:p.His41Arg
NP_001394804.1:p.His41Arg
NP_001394848.1:p.His41Arg
NP_001394866.1:p.His41Arg
NP_001394867.1:p.His41Arg
NP_001394868.1:p.His41Arg
NP_001394869.1:p.His41Arg
NP_001394870.1:p.His41Arg
NP_001394897.1:p.His41Arg
NP_001394898.1:p.His41Arg
NP_001394899.1:p.His41Arg
NP_001394900.1:p.His41Arg
NP_001394901.1:p.His41Arg
NP_001394902.1:p.His41Arg
NP_001394903.1:p.His41Arg
NP_001394904.1:p.His41Arg
NP_001394905.1:p.His41Arg
NP_001394906.1:p.His41Arg
NP_001394907.1:p.His41Arg
NP_001394908.1:p.His41Arg
NP_001394909.1:p.His41Arg
NP_001394910.1:p.His41Arg
NP_001394911.1:p.His41Arg
NP_001394912.1:p.His41Arg
NP_001394913.1:p.His41Arg
NP_001394914.1:p.His41Arg
NP_001394915.1:p.His41Arg
NP_001394919.1:p.His41Arg
NP_001394920.1:p.His41Arg
NP_001394921.1:p.His41Arg
NP_001394922.1:p.His41Arg
NP_001395321.1:p.His41Arg
NP_001395325.1:p.His41Arg
NP_001395326.1:p.His41Arg
NP_001395327.1:p.His41Arg
NP_001395328.1:p.His41Arg
NP_001395329.1:p.His41Arg
NP_001395330.1:p.His41Arg
NP_001395331.1:p.His41Arg
NP_001395332.1:p.His41Arg
NP_001395333.1:p.His41Arg
NP_001395335.1:p.His41Arg
NP_001395336.1:p.His41Arg
NP_001395337.1:p.His41Arg
NP_001395338.1:p.His41Arg
NP_001395340.1:p.His41Arg
NP_001395341.1:p.His41Arg
NP_001395342.1:p.His41Arg
NP_001395343.1:p.His41Arg
NP_001395344.1:p.His41Arg
NP_001395345.1:p.His41Arg
NP_001395347.1:p.His41Arg
NP_001395348.1:p.His41Arg
NP_001395349.1:p.His41Arg
NP_001395350.1:p.His41Arg
NP_001395351.1:p.His41Arg
NP_001395352.1:p.His41Arg
NP_001395353.1:p.His41Arg
NP_001395354.1:p.His41Arg
NP_001395355.1:p.His41Arg
NP_001395356.1:p.His41Arg
NP_001395357.1:p.His41Arg
NP_001395358.1:p.His41Arg
NP_001395359.1:p.His41Arg
NP_001395360.1:p.His41Arg
NP_001395361.1:p.His41Arg
NP_001395362.1:p.His41Arg
NP_001395363.1:p.His41Arg
NP_001395364.1:p.His41Arg
NP_001395365.1:p.His41Arg
NP_001395366.1:p.His41Arg
NP_001395367.1:p.His41Arg
NP_001395368.1:p.His41Arg
NP_001395369.1:p.His41Arg
NP_001395370.1:p.His41Arg
NP_001395371.1:p.His41Arg
NP_001395372.1:p.His41Arg
NP_001395373.1:p.His41Arg
NP_001395374.1:p.His41Arg
NP_001395375.1:p.His41Arg
NP_001395376.1:p.His41Arg
NP_001395377.1:p.His41Arg
NP_001395379.1:p.His41Arg
NP_001395401.1:p.His41Arg
NP_001395402.1:p.His41Arg
NP_001395403.1:p.His41Arg
NP_001395404.1:p.His41Arg
NP_001395405.1:p.His41Arg
NP_001395423.1:p.His41Arg
NP_001395424.1:p.His41Arg
NP_009225.1:p.His41Arg
NP_009225.1:p.His41Arg
NP_009229.2:p.His41Arg
NP_009229.2:p.His41Arg
NP_009230.2:p.His41Arg
NP_009231.2:p.His41Arg
NP_009235.2:p.His41Arg
LRG_292t1:c.122A>G
LRG_292:g.102246A>G
LRG_292p1:p.His41Arg
NC_000017.10:g.41267755T>C
NM_007294.3:c.122A>G
NM_007298.3:c.122A>G
NR_027676.2:n.324A>G
U14680.1:n.241A>G

Protein change:

H41R

Links:

BRCA1-HCI: BRCA1_00130; dbSNP: rs80357276

NCBI 1000 Genomes Browser:

rs80357276

Molecular consequence:

NM_007297.4:c.-8+8279A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407581.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407968.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407969.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407970.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407971.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407972.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407973.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407974.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407975.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407976.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407977.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407978.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407979.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407980.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407981.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407982.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407983.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407984.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407985.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407986.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407990.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407991.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407992.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407993.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408392.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408396.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408397.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408398.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408399.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408400.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408401.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408402.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408403.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408404.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408406.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408407.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408408.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408409.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408411.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408412.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408413.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408414.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408415.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408416.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408418.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408419.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408420.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408421.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408422.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408423.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408424.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408425.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408426.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408427.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408428.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408429.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408430.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408431.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408432.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408433.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408434.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408435.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408436.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408437.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408438.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408439.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408440.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408441.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408442.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408443.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408444.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408445.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408446.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408447.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408448.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408450.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408472.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408473.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408474.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408475.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408476.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408494.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408495.1:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007298.4:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007299.4:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007304.2:c.122A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_027676.2:n.324A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000075396	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (May 30, 2023)	germline	clinical testing	PubMed (10) [See all records that cite these PMIDs] 16403807, 20103620, 21725363, 22843421, 23161852, 25823446, 30209399, 15168169, 24489791, 28492532
SCV000916704	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Pathogenic (Feb 26, 2024)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 16267036, 23161852, 15168169, 24489791, 16403807, 20103620, 25186627 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000075396

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(May 30, 2023)

germline

clinical testing

PubMed (10)
[See all records that cite these PMIDs]

SCV000916704

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Pathogenic
(Feb 26, 2024)

germline

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

Help

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

Functional differences among BRCA1 missense mutations in the control of centrosome duplication.

Kais Z, Chiba N, Ishioka C, Parvin JD.

Oncogene. 2012 Feb 9;31(6):799-804. doi: 10.1038/onc.2011.271. Epub 2011 Jul 4.

PubMed [citation]

PMID:: 21725363
PMCID:: PMC4222025

Mechanisms of BRCA1 tumor suppression.

Silver DP, Livingston DM.

Cancer Discov. 2012 Aug;2(8):679-84. doi: 10.1158/2159-8290.CD-12-0221. Epub 2012 Jul 27. Review.

PubMed [citation]

PMID:: 22843421
PMCID:: PMC3437262

See all PubMed Citations (12)

Details of each submission

From Invitae, SCV000075396.9

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (10)

Description

For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects BRCA1 function (PMID: 16403807, 20103620, 21725363, 22843421, 23161852, 25823446, 30209399). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is expected to disrupt BRCA1 function. ClinVar contains an entry for this variant (Variation ID: 54166). This missense change has been observed in individual(s) with breast and/or ovarian cancer (PMID: 15168169, 24489791). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 41 of the BRCA1 protein (p.His41Arg).

#	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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000916704.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

Description

Variant summary: BRCA1 c.122A>G (p.His41Arg) results in a non-conservative amino acid change located in the Zinc finger, RING-type (IPR001841) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 250784 control chromosomes. c.122A>G has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (Whiley_2014, Kawahara_2004, Tung_2015). These data indicate that the variant is likely to be associated with disease. Functional studies reported that this variant showed abrogated function in the homology directed repair assay, abrogated ubiquitin ligase and weak BARD1 binding activity (Morris_2006, Towler_2013, Ransburgh_2010). The following publications have been ascertained in the context of this evaluation (PMID: 16267036, 23161852, 15168169, 24489791, 16403807, 20103620, 25186627). ClinVar contains an entry for this variant (Variation ID: 54166). Based on the evidence outlined above, the variant was classified as pathogenic.

#	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: Jun 2, 2024

ClinVar

Relating variation to medicine