NM_007294.4(BRCA1):c.20G>A (p.Arg7His) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Jul 13, 2022
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:: RCV000588310.6

Allele description [Variation Report for NM_007294.4(BRCA1):c.20G>A (p.Arg7His)]

NM_007294.4(BRCA1):c.20G>A (p.Arg7His)

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.20G>A (p.Arg7His)

HGVS:

NC_000017.11:g.43124077C>T
NG_005905.2:g.93907G>A
NM_001407571.1:c.-169G>A
NM_001407581.1:c.20G>A
NM_001407582.1:c.20G>A
NM_001407583.1:c.20G>A
NM_001407585.1:c.20G>A
NM_001407587.1:c.20G>A
NM_001407590.1:c.20G>A
NM_001407591.1:c.20G>A
NM_001407593.1:c.20G>A
NM_001407594.1:c.20G>A
NM_001407596.1:c.20G>A
NM_001407597.1:c.20G>A
NM_001407598.1:c.20G>A
NM_001407602.1:c.20G>A
NM_001407603.1:c.20G>A
NM_001407605.1:c.20G>A
NM_001407610.1:c.20G>A
NM_001407611.1:c.20G>A
NM_001407612.1:c.20G>A
NM_001407613.1:c.20G>A
NM_001407614.1:c.20G>A
NM_001407615.1:c.20G>A
NM_001407616.1:c.20G>A
NM_001407617.1:c.20G>A
NM_001407618.1:c.20G>A
NM_001407619.1:c.20G>A
NM_001407620.1:c.20G>A
NM_001407621.1:c.20G>A
NM_001407622.1:c.20G>A
NM_001407623.1:c.20G>A
NM_001407624.1:c.20G>A
NM_001407625.1:c.20G>A
NM_001407626.1:c.20G>A
NM_001407627.1:c.20G>A
NM_001407628.1:c.20G>A
NM_001407629.1:c.20G>A
NM_001407630.1:c.20G>A
NM_001407631.1:c.20G>A
NM_001407632.1:c.20G>A
NM_001407633.1:c.20G>A
NM_001407634.1:c.20G>A
NM_001407635.1:c.20G>A
NM_001407636.1:c.20G>A
NM_001407637.1:c.20G>A
NM_001407638.1:c.20G>A
NM_001407639.1:c.20G>A
NM_001407640.1:c.20G>A
NM_001407641.1:c.20G>A
NM_001407642.1:c.20G>A
NM_001407644.1:c.20G>A
NM_001407645.1:c.20G>A
NM_001407646.1:c.20G>A
NM_001407647.1:c.20G>A
NM_001407648.1:c.20G>A
NM_001407649.1:c.20G>A
NM_001407652.1:c.20G>A
NM_001407653.1:c.20G>A
NM_001407654.1:c.20G>A
NM_001407655.1:c.20G>A
NM_001407656.1:c.20G>A
NM_001407657.1:c.20G>A
NM_001407658.1:c.20G>A
NM_001407659.1:c.20G>A
NM_001407660.1:c.20G>A
NM_001407661.1:c.20G>A
NM_001407662.1:c.20G>A
NM_001407663.1:c.20G>A
NM_001407664.1:c.20G>A
NM_001407665.1:c.20G>A
NM_001407666.1:c.20G>A
NM_001407667.1:c.20G>A
NM_001407668.1:c.20G>A
NM_001407669.1:c.20G>A
NM_001407670.1:c.20G>A
NM_001407671.1:c.20G>A
NM_001407672.1:c.20G>A
NM_001407673.1:c.20G>A
NM_001407674.1:c.20G>A
NM_001407675.1:c.20G>A
NM_001407676.1:c.20G>A
NM_001407677.1:c.20G>A
NM_001407678.1:c.20G>A
NM_001407679.1:c.20G>A
NM_001407680.1:c.20G>A
NM_001407681.1:c.20G>A
NM_001407682.1:c.20G>A
NM_001407683.1:c.20G>A
NM_001407684.1:c.20G>A
NM_001407685.1:c.20G>A
NM_001407686.1:c.20G>A
NM_001407687.1:c.20G>A
NM_001407688.1:c.20G>A
NM_001407689.1:c.20G>A
NM_001407690.1:c.20G>A
NM_001407691.1:c.20G>A
NM_001407694.1:c.-238G>A
NM_001407695.1:c.-242G>A
NM_001407696.1:c.-383G>A
NM_001407697.1:c.-267G>A
NM_001407698.1:c.-68G>A
NM_001407724.1:c.-238G>A
NM_001407725.1:c.-241G>A
NM_001407726.1:c.-187G>A
NM_001407727.1:c.-238G>A
NM_001407730.1:c.-241G>A
NM_001407731.1:c.-238G>A
NM_001407732.1:c.-68G>A
NM_001407733.1:c.-238G>A
NM_001407734.1:c.-241G>A
NM_001407736.1:c.-68G>A
NM_001407738.1:c.-68G>A
NM_001407739.1:c.-241G>A
NM_001407740.1:c.-241G>A
NM_001407741.1:c.-245G>A
NM_001407742.1:c.-68G>A
NM_001407744.1:c.-68G>A
NM_001407748.1:c.-241G>A
NM_001407749.1:c.-238G>A
NM_001407750.1:c.-68G>A
NM_001407751.1:c.-187G>A
NM_001407752.1:c.-241G>A
NM_001407838.1:c.-241G>A
NM_001407841.1:c.-118G>A
NM_001407842.1:c.-238G>A
NM_001407843.1:c.-238G>A
NM_001407845.1:c.-68G>A
NM_001407846.1:c.-267G>A
NM_001407847.1:c.-241G>A
NM_001407849.1:c.-68G>A
NM_001407850.1:c.-241G>A
NM_001407852.1:c.-68G>A
NM_001407853.1:c.-169G>A
NM_001407854.1:c.20G>A
NM_001407858.1:c.20G>A
NM_001407859.1:c.20G>A
NM_001407860.1:c.20G>A
NM_001407861.1:c.20G>A
NM_001407862.1:c.20G>A
NM_001407863.1:c.20G>A
NM_001407874.1:c.20G>A
NM_001407875.1:c.20G>A
NM_001407879.1:c.-169G>A
NM_001407881.1:c.-115G>A
NM_001407882.1:c.-169G>A
NM_001407884.1:c.-169G>A
NM_001407886.1:c.-169G>A
NM_001407887.1:c.-169G>A
NM_001407889.1:c.-285G>A
NM_001407894.1:c.-169G>A
NM_001407895.1:c.-169G>A
NM_001407897.1:c.-169G>A
NM_001407898.1:c.-115G>A
NM_001407899.1:c.-169G>A
NM_001407902.1:c.-115G>A
NM_001407904.1:c.-169G>A
NM_001407906.1:c.-169G>A
NM_001407907.1:c.-169G>A
NM_001407908.1:c.-169G>A
NM_001407909.1:c.-169G>A
NM_001407910.1:c.-169G>A
NM_001407915.1:c.-169G>A
NM_001407916.1:c.-169G>A
NM_001407917.1:c.-288G>A
NM_001407918.1:c.-169G>A
NM_001407919.1:c.20G>A
NM_001407920.1:c.-267G>A
NM_001407921.1:c.-241G>A
NM_001407923.1:c.-241G>A
NM_001407924.1:c.-68G>A
NM_001407925.1:c.-68G>A
NM_001407927.1:c.-241G>A
NM_001407928.1:c.-68G>A
NM_001407929.1:c.-68G>A
NM_001407930.1:c.-238G>A
NM_001407932.1:c.-68G>A
NM_001407933.1:c.-241G>A
NM_001407934.1:c.-245G>A
NM_001407936.1:c.-68G>A
NM_001407937.1:c.20G>A
NM_001407938.1:c.20G>A
NM_001407939.1:c.20G>A
NM_001407940.1:c.20G>A
NM_001407941.1:c.20G>A
NM_001407942.1:c.-238G>A
NM_001407943.1:c.-241G>A
NM_001407944.1:c.-241G>A
NM_001407945.1:c.-68G>A
NM_001407946.1:c.-169G>A
NM_001407947.1:c.-169G>A
NM_001407948.1:c.-169G>A
NM_001407949.1:c.-169G>A
NM_001407950.1:c.-169G>A
NM_001407951.1:c.-169G>A
NM_001407952.1:c.-169G>A
NM_001407953.1:c.-169G>A
NM_001407954.1:c.-288G>A
NM_001407955.1:c.-169G>A
NM_001407956.1:c.-169G>A
NM_001407957.1:c.-169G>A
NM_001407958.1:c.-169G>A
NM_001407965.1:c.-400G>A
NM_001407968.1:c.20G>A
NM_001407969.1:c.20G>A
NM_001407970.1:c.20G>A
NM_001407971.1:c.20G>A
NM_001407972.1:c.20G>A
NM_001407973.1:c.20G>A
NM_001407974.1:c.20G>A
NM_001407975.1:c.20G>A
NM_001407976.1:c.20G>A
NM_001407977.1:c.20G>A
NM_001407978.1:c.20G>A
NM_001407979.1:c.20G>A
NM_001407980.1:c.20G>A
NM_001407981.1:c.20G>A
NM_001407982.1:c.20G>A
NM_001407983.1:c.20G>A
NM_001407984.1:c.20G>A
NM_001407985.1:c.20G>A
NM_001407986.1:c.20G>A
NM_001407990.1:c.20G>A
NM_001407991.1:c.20G>A
NM_001407992.1:c.20G>A
NM_001407993.1:c.20G>A
NM_001408392.1:c.20G>A
NM_001408396.1:c.20G>A
NM_001408397.1:c.20G>A
NM_001408398.1:c.20G>A
NM_001408399.1:c.20G>A
NM_001408400.1:c.20G>A
NM_001408401.1:c.20G>A
NM_001408402.1:c.20G>A
NM_001408403.1:c.20G>A
NM_001408404.1:c.20G>A
NM_001408406.1:c.20G>A
NM_001408407.1:c.20G>A
NM_001408408.1:c.20G>A
NM_001408409.1:c.20G>A
NM_001408410.1:c.-241G>A
NM_001408411.1:c.20G>A
NM_001408412.1:c.20G>A
NM_001408413.1:c.20G>A
NM_001408414.1:c.20G>A
NM_001408415.1:c.20G>A
NM_001408416.1:c.20G>A
NM_001408418.1:c.20G>A
NM_001408419.1:c.20G>A
NM_001408420.1:c.20G>A
NM_001408421.1:c.20G>A
NM_001408422.1:c.20G>A
NM_001408423.1:c.20G>A
NM_001408424.1:c.20G>A
NM_001408425.1:c.20G>A
NM_001408426.1:c.20G>A
NM_001408427.1:c.20G>A
NM_001408428.1:c.20G>A
NM_001408429.1:c.20G>A
NM_001408430.1:c.20G>A
NM_001408431.1:c.20G>A
NM_001408432.1:c.20G>A
NM_001408433.1:c.20G>A
NM_001408434.1:c.20G>A
NM_001408435.1:c.20G>A
NM_001408436.1:c.20G>A
NM_001408437.1:c.20G>A
NM_001408438.1:c.20G>A
NM_001408439.1:c.20G>A
NM_001408440.1:c.20G>A
NM_001408441.1:c.20G>A
NM_001408442.1:c.20G>A
NM_001408443.1:c.20G>A
NM_001408444.1:c.20G>A
NM_001408445.1:c.20G>A
NM_001408446.1:c.20G>A
NM_001408447.1:c.20G>A
NM_001408448.1:c.20G>A
NM_001408450.1:c.20G>A
NM_001408451.1:c.20G>A
NM_001408452.1:c.-241G>A
NM_001408454.1:c.-68G>A
NM_001408455.1:c.-238G>A
NM_001408456.1:c.-238G>A
NM_001408459.1:c.-68G>A
NM_001408460.1:c.-68G>A
NM_001408461.1:c.-68G>A
NM_001408462.1:c.-241G>A
NM_001408463.1:c.-241G>A
NM_001408464.1:c.-68G>A
NM_001408465.1:c.-242G>A
NM_001408466.1:c.-241G>A
NM_001408467.1:c.-68G>A
NM_001408468.1:c.-238G>A
NM_001408472.1:c.20G>A
NM_001408473.1:c.20G>A
NM_001408474.1:c.20G>A
NM_001408475.1:c.20G>A
NM_001408476.1:c.20G>A
NM_001408478.1:c.-169G>A
NM_001408479.1:c.-169G>A
NM_001408480.1:c.-169G>A
NM_001408481.1:c.-169G>A
NM_001408482.1:c.-314G>A
NM_001408483.1:c.-169G>A
NM_001408484.1:c.-169G>A
NM_001408485.1:c.-169G>A
NM_001408489.1:c.-169G>A
NM_001408490.1:c.-169G>A
NM_001408491.1:c.-169G>A
NM_001408492.1:c.-285G>A
NM_001408493.1:c.-169G>A
NM_001408494.1:c.20G>A
NM_001408495.1:c.20G>A
NM_001408496.1:c.-68G>A
NM_001408497.1:c.-245G>A
NM_001408498.1:c.-68G>A
NM_001408499.1:c.-241G>A
NM_001408500.1:c.-241G>A
NM_001408501.1:c.-238G>A
NM_001408502.1:c.-169G>A
NM_001408503.1:c.-241G>A
NM_001408504.1:c.-241G>A
NM_001408506.1:c.-169G>A
NM_001408507.1:c.-169G>A
NM_001408508.1:c.-169G>A
NM_001408509.1:c.-169G>A
NM_001408513.1:c.-288G>A
NM_001408514.1:c.-169G>A
NM_007294.4:c.20G>AMANE SELECT
NM_007297.4:c.-68G>A
NM_007298.4:c.20G>A
NM_007299.4:c.20G>A
NM_007300.4:c.20G>A
NM_007304.2:c.20G>A
NP_001394510.1:p.Arg7His
NP_001394511.1:p.Arg7His
NP_001394512.1:p.Arg7His
NP_001394514.1:p.Arg7His
NP_001394516.1:p.Arg7His
NP_001394519.1:p.Arg7His
NP_001394520.1:p.Arg7His
NP_001394522.1:p.Arg7His
NP_001394523.1:p.Arg7His
NP_001394525.1:p.Arg7His
NP_001394526.1:p.Arg7His
NP_001394527.1:p.Arg7His
NP_001394531.1:p.Arg7His
NP_001394532.1:p.Arg7His
NP_001394534.1:p.Arg7His
NP_001394539.1:p.Arg7His
NP_001394540.1:p.Arg7His
NP_001394541.1:p.Arg7His
NP_001394542.1:p.Arg7His
NP_001394543.1:p.Arg7His
NP_001394544.1:p.Arg7His
NP_001394545.1:p.Arg7His
NP_001394546.1:p.Arg7His
NP_001394547.1:p.Arg7His
NP_001394548.1:p.Arg7His
NP_001394549.1:p.Arg7His
NP_001394550.1:p.Arg7His
NP_001394551.1:p.Arg7His
NP_001394552.1:p.Arg7His
NP_001394553.1:p.Arg7His
NP_001394554.1:p.Arg7His
NP_001394555.1:p.Arg7His
NP_001394556.1:p.Arg7His
NP_001394557.1:p.Arg7His
NP_001394558.1:p.Arg7His
NP_001394559.1:p.Arg7His
NP_001394560.1:p.Arg7His
NP_001394561.1:p.Arg7His
NP_001394562.1:p.Arg7His
NP_001394563.1:p.Arg7His
NP_001394564.1:p.Arg7His
NP_001394565.1:p.Arg7His
NP_001394566.1:p.Arg7His
NP_001394567.1:p.Arg7His
NP_001394568.1:p.Arg7His
NP_001394569.1:p.Arg7His
NP_001394570.1:p.Arg7His
NP_001394571.1:p.Arg7His
NP_001394573.1:p.Arg7His
NP_001394574.1:p.Arg7His
NP_001394575.1:p.Arg7His
NP_001394576.1:p.Arg7His
NP_001394577.1:p.Arg7His
NP_001394578.1:p.Arg7His
NP_001394581.1:p.Arg7His
NP_001394582.1:p.Arg7His
NP_001394583.1:p.Arg7His
NP_001394584.1:p.Arg7His
NP_001394585.1:p.Arg7His
NP_001394586.1:p.Arg7His
NP_001394587.1:p.Arg7His
NP_001394588.1:p.Arg7His
NP_001394589.1:p.Arg7His
NP_001394590.1:p.Arg7His
NP_001394591.1:p.Arg7His
NP_001394592.1:p.Arg7His
NP_001394593.1:p.Arg7His
NP_001394594.1:p.Arg7His
NP_001394595.1:p.Arg7His
NP_001394596.1:p.Arg7His
NP_001394597.1:p.Arg7His
NP_001394598.1:p.Arg7His
NP_001394599.1:p.Arg7His
NP_001394600.1:p.Arg7His
NP_001394601.1:p.Arg7His
NP_001394602.1:p.Arg7His
NP_001394603.1:p.Arg7His
NP_001394604.1:p.Arg7His
NP_001394605.1:p.Arg7His
NP_001394606.1:p.Arg7His
NP_001394607.1:p.Arg7His
NP_001394608.1:p.Arg7His
NP_001394609.1:p.Arg7His
NP_001394610.1:p.Arg7His
NP_001394611.1:p.Arg7His
NP_001394612.1:p.Arg7His
NP_001394613.1:p.Arg7His
NP_001394614.1:p.Arg7His
NP_001394615.1:p.Arg7His
NP_001394616.1:p.Arg7His
NP_001394617.1:p.Arg7His
NP_001394618.1:p.Arg7His
NP_001394619.1:p.Arg7His
NP_001394620.1:p.Arg7His
NP_001394783.1:p.Arg7His
NP_001394787.1:p.Arg7His
NP_001394788.1:p.Arg7His
NP_001394789.1:p.Arg7His
NP_001394790.1:p.Arg7His
NP_001394791.1:p.Arg7His
NP_001394792.1:p.Arg7His
NP_001394803.1:p.Arg7His
NP_001394804.1:p.Arg7His
NP_001394848.1:p.Arg7His
NP_001394866.1:p.Arg7His
NP_001394867.1:p.Arg7His
NP_001394868.1:p.Arg7His
NP_001394869.1:p.Arg7His
NP_001394870.1:p.Arg7His
NP_001394897.1:p.Arg7His
NP_001394898.1:p.Arg7His
NP_001394899.1:p.Arg7His
NP_001394900.1:p.Arg7His
NP_001394901.1:p.Arg7His
NP_001394902.1:p.Arg7His
NP_001394903.1:p.Arg7His
NP_001394904.1:p.Arg7His
NP_001394905.1:p.Arg7His
NP_001394906.1:p.Arg7His
NP_001394907.1:p.Arg7His
NP_001394908.1:p.Arg7His
NP_001394909.1:p.Arg7His
NP_001394910.1:p.Arg7His
NP_001394911.1:p.Arg7His
NP_001394912.1:p.Arg7His
NP_001394913.1:p.Arg7His
NP_001394914.1:p.Arg7His
NP_001394915.1:p.Arg7His
NP_001394919.1:p.Arg7His
NP_001394920.1:p.Arg7His
NP_001394921.1:p.Arg7His
NP_001394922.1:p.Arg7His
NP_001395321.1:p.Arg7His
NP_001395325.1:p.Arg7His
NP_001395326.1:p.Arg7His
NP_001395327.1:p.Arg7His
NP_001395328.1:p.Arg7His
NP_001395329.1:p.Arg7His
NP_001395330.1:p.Arg7His
NP_001395331.1:p.Arg7His
NP_001395332.1:p.Arg7His
NP_001395333.1:p.Arg7His
NP_001395335.1:p.Arg7His
NP_001395336.1:p.Arg7His
NP_001395337.1:p.Arg7His
NP_001395338.1:p.Arg7His
NP_001395340.1:p.Arg7His
NP_001395341.1:p.Arg7His
NP_001395342.1:p.Arg7His
NP_001395343.1:p.Arg7His
NP_001395344.1:p.Arg7His
NP_001395345.1:p.Arg7His
NP_001395347.1:p.Arg7His
NP_001395348.1:p.Arg7His
NP_001395349.1:p.Arg7His
NP_001395350.1:p.Arg7His
NP_001395351.1:p.Arg7His
NP_001395352.1:p.Arg7His
NP_001395353.1:p.Arg7His
NP_001395354.1:p.Arg7His
NP_001395355.1:p.Arg7His
NP_001395356.1:p.Arg7His
NP_001395357.1:p.Arg7His
NP_001395358.1:p.Arg7His
NP_001395359.1:p.Arg7His
NP_001395360.1:p.Arg7His
NP_001395361.1:p.Arg7His
NP_001395362.1:p.Arg7His
NP_001395363.1:p.Arg7His
NP_001395364.1:p.Arg7His
NP_001395365.1:p.Arg7His
NP_001395366.1:p.Arg7His
NP_001395367.1:p.Arg7His
NP_001395368.1:p.Arg7His
NP_001395369.1:p.Arg7His
NP_001395370.1:p.Arg7His
NP_001395371.1:p.Arg7His
NP_001395372.1:p.Arg7His
NP_001395373.1:p.Arg7His
NP_001395374.1:p.Arg7His
NP_001395375.1:p.Arg7His
NP_001395376.1:p.Arg7His
NP_001395377.1:p.Arg7His
NP_001395379.1:p.Arg7His
NP_001395380.1:p.Arg7His
NP_001395401.1:p.Arg7His
NP_001395402.1:p.Arg7His
NP_001395403.1:p.Arg7His
NP_001395404.1:p.Arg7His
NP_001395405.1:p.Arg7His
NP_001395423.1:p.Arg7His
NP_001395424.1:p.Arg7His
NP_009225.1:p.Arg7His
NP_009225.1:p.Arg7His
NP_009229.2:p.Arg7His
NP_009229.2:p.Arg7His
NP_009230.2:p.Arg7His
NP_009231.2:p.Arg7His
NP_009235.2:p.Arg7His
LRG_292t1:c.20G>A
LRG_292:g.93907G>A
LRG_292p1:p.Arg7His
NC_000017.10:g.41276094C>T
NM_007294.3:c.20G>A
NM_007298.3:c.20G>A
NR_027676.2:n.222G>A
p.R7H

Protein change:

R7H

Links:

dbSNP: rs144792613

NCBI 1000 Genomes Browser:

rs144792613

Molecular consequence:

NM_007297.4:c.-68G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407581.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407968.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407969.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407970.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407971.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407972.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407973.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407974.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407975.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407976.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407977.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407978.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407979.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407980.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407981.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407982.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407983.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407984.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407985.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407986.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407990.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407991.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407992.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407993.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408392.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408396.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408397.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408398.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408399.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408400.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408401.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408402.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408403.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408404.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408406.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408407.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408408.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408409.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408411.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408412.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408413.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408414.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408415.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408416.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408418.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408419.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408420.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408421.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408422.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408423.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408424.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408425.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408426.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408427.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408428.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408429.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408430.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408431.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408432.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408433.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408434.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408435.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408436.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408437.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408438.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408439.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408440.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408441.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408442.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408443.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408444.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408445.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408446.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408447.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408448.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408450.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408451.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408472.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408473.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408474.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408475.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408476.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408494.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408495.1:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007298.4:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007299.4:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007304.2:c.20G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_027676.2:n.222G>A - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000329116	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Jan 29, 2018)	germline	clinical testing	Citation Link,
SCV000698916	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Aug 3, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 16267036, 25823446 LabCorp Variant Classification Summary - May 2015.docx, Citation Link,
SCV002047271	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely benign (Jul 13, 2022)	unknown	clinical testing	PubMed (5) [See all records that cite these PMIDs] 30209399, 25823446, 16267036, 30287823, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000329116

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Jan 29, 2018)

germline

clinical testing

Citation Link,

SCV000698916

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

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Aug 3, 2017)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

LabCorp Variant Classification Summary - May 2015.docx,

Citation Link,

SCV002047271

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Likely benign
(Jul 13, 2022)

unknown

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.

Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

PubMed [citation]

PMID:: 30209399
PMCID:: PMC6181777

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.

Starita LM, Young DL, Islam M, Kitzman JO, Gullingsrud J, Hause RJ, Fowler DM, Parvin JD, Shendure J, Fields S.

Genetics. 2015 Jun;200(2):413-22. doi: 10.1534/genetics.115.175802. Epub 2015 Mar 30. Erratum in: Genetics. 2017 Dec;207(4):1713. doi: 10.1534/genetics.117.300355.

PubMed [citation]

PMID:: 25823446
PMCID:: PMC4492368

See all PubMed Citations (5)

Details of each submission

From GeneDx, SCV000329116.7

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

Description

This variant is denoted BRCA1 c.20G>A at the cDNA level, p.Arg7His (R7H) at the protein level, and results in the change of an Arginine to a Histidine (CGC>CAC). Using alternate nomenclature, this variant would be defined as BRCA1 139G>A. This variant has been observed in at least one individual referred for BRCA1 testing (Judkins 2005). It was demonstrated to have E3 ligase activity and BARD1 interaction similar to wildtype and was able to rescue homology-directed repair in a cell line lacking endogenous BRCA1 (Starita 2015). BRCA1 Arg7His was not observed in large population cohorts (Lek 2016). This variant is located in the RING domain and a region known to interact with BRD7 (Harte 2010, Borg 2010, Paul 2014). In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether BRCA1 Arg7His is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000698916.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

Variant summary: The BRCA1 c.20G>A (p.Arg7His) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 1/120706 control chromosomes at a frequency of 0.0000083, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). The variant has been reported in at least one patient with HBOC without strong support for pathogenicity (Judkins_2005). A functional study (Starita_2015) reported the variant to be as proficient in homology-directed DNA repair as is the wild type BRCA1 indicating the variant to be in the neutral spectrum. In addition, multiple clinical diagnostic laboratories have classified this variant as uncertain significance. Considering all evidence, the variant was classified as VUS-possibly benign.

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002047271.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

#	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

Last Updated: Oct 8, 2024

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