NM_007294.4(BRCA1):c.122A>T (p.His41Leu) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Likely pathogenic (4 submissions)
Last evaluated:: Oct 17, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000238698.8

Allele description [Variation Report for NM_007294.4(BRCA1):c.122A>T (p.His41Leu)]

NM_007294.4(BRCA1):c.122A>T (p.His41Leu)

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>T (p.His41Leu)

HGVS:

NC_000017.11:g.43115738T>A
NG_005905.2:g.102246A>T
NM_001407571.1:c.-67A>T
NM_001407581.1:c.122A>T
NM_001407582.1:c.122A>T
NM_001407583.1:c.122A>T
NM_001407585.1:c.122A>T
NM_001407587.1:c.122A>T
NM_001407590.1:c.122A>T
NM_001407591.1:c.122A>T
NM_001407593.1:c.122A>T
NM_001407594.1:c.122A>T
NM_001407596.1:c.122A>T
NM_001407597.1:c.122A>T
NM_001407598.1:c.122A>T
NM_001407602.1:c.122A>T
NM_001407603.1:c.122A>T
NM_001407605.1:c.122A>T
NM_001407610.1:c.122A>T
NM_001407611.1:c.122A>T
NM_001407612.1:c.122A>T
NM_001407613.1:c.122A>T
NM_001407614.1:c.122A>T
NM_001407615.1:c.122A>T
NM_001407616.1:c.122A>T
NM_001407617.1:c.122A>T
NM_001407618.1:c.122A>T
NM_001407619.1:c.122A>T
NM_001407620.1:c.122A>T
NM_001407621.1:c.122A>T
NM_001407622.1:c.122A>T
NM_001407623.1:c.122A>T
NM_001407624.1:c.122A>T
NM_001407625.1:c.122A>T
NM_001407626.1:c.122A>T
NM_001407627.1:c.122A>T
NM_001407628.1:c.122A>T
NM_001407629.1:c.122A>T
NM_001407630.1:c.122A>T
NM_001407631.1:c.122A>T
NM_001407632.1:c.122A>T
NM_001407633.1:c.122A>T
NM_001407634.1:c.122A>T
NM_001407635.1:c.122A>T
NM_001407636.1:c.122A>T
NM_001407637.1:c.122A>T
NM_001407638.1:c.122A>T
NM_001407639.1:c.122A>T
NM_001407640.1:c.122A>T
NM_001407641.1:c.122A>T
NM_001407642.1:c.122A>T
NM_001407644.1:c.122A>T
NM_001407645.1:c.122A>T
NM_001407646.1:c.122A>T
NM_001407647.1:c.122A>T
NM_001407648.1:c.122A>T
NM_001407649.1:c.122A>T
NM_001407652.1:c.122A>T
NM_001407653.1:c.122A>T
NM_001407654.1:c.122A>T
NM_001407655.1:c.122A>T
NM_001407656.1:c.122A>T
NM_001407657.1:c.122A>T
NM_001407658.1:c.122A>T
NM_001407659.1:c.122A>T
NM_001407660.1:c.122A>T
NM_001407661.1:c.122A>T
NM_001407662.1:c.122A>T
NM_001407663.1:c.122A>T
NM_001407664.1:c.122A>T
NM_001407665.1:c.122A>T
NM_001407666.1:c.122A>T
NM_001407667.1:c.122A>T
NM_001407668.1:c.122A>T
NM_001407669.1:c.122A>T
NM_001407670.1:c.122A>T
NM_001407671.1:c.122A>T
NM_001407672.1:c.122A>T
NM_001407673.1:c.122A>T
NM_001407674.1:c.122A>T
NM_001407675.1:c.122A>T
NM_001407676.1:c.122A>T
NM_001407677.1:c.122A>T
NM_001407678.1:c.122A>T
NM_001407679.1:c.122A>T
NM_001407680.1:c.122A>T
NM_001407681.1:c.122A>T
NM_001407682.1:c.122A>T
NM_001407683.1:c.122A>T
NM_001407684.1:c.122A>T
NM_001407685.1:c.122A>T
NM_001407686.1:c.122A>T
NM_001407687.1:c.122A>T
NM_001407688.1:c.122A>T
NM_001407689.1:c.122A>T
NM_001407690.1:c.122A>T
NM_001407691.1:c.122A>T
NM_001407694.1:c.-136A>T
NM_001407695.1:c.-140A>T
NM_001407696.1:c.-136A>T
NM_001407697.1:c.-20A>T
NM_001407724.1:c.-136A>T
NM_001407725.1:c.-20A>T
NM_001407727.1:c.-136A>T
NM_001407728.1:c.-20A>T
NM_001407729.1:c.-20A>T
NM_001407730.1:c.-20A>T
NM_001407731.1:c.-136A>T
NM_001407733.1:c.-136A>T
NM_001407734.1:c.-20A>T
NM_001407735.1:c.-20A>T
NM_001407737.1:c.-20A>T
NM_001407739.1:c.-20A>T
NM_001407740.1:c.-20A>T
NM_001407741.1:c.-20A>T
NM_001407743.1:c.-20A>T
NM_001407745.1:c.-20A>T
NM_001407746.1:c.-136A>T
NM_001407748.1:c.-20A>T
NM_001407749.1:c.-136A>T
NM_001407752.1:c.-20A>T
NM_001407838.1:c.-20A>T
NM_001407839.1:c.-20A>T
NM_001407841.1:c.-16A>T
NM_001407842.1:c.-136A>T
NM_001407843.1:c.-136A>T
NM_001407844.1:c.-20A>T
NM_001407846.1:c.-20A>T
NM_001407847.1:c.-20A>T
NM_001407848.1:c.-20A>T
NM_001407850.1:c.-20A>T
NM_001407851.1:c.-20A>T
NM_001407853.1:c.-67A>T
NM_001407854.1:c.122A>T
NM_001407858.1:c.122A>T
NM_001407859.1:c.122A>T
NM_001407860.1:c.122A>T
NM_001407861.1:c.122A>T
NM_001407862.1:c.122A>T
NM_001407863.1:c.122A>T
NM_001407874.1:c.122A>T
NM_001407875.1:c.122A>T
NM_001407879.1:c.-67A>T
NM_001407882.1:c.-67A>T
NM_001407884.1:c.-67A>T
NM_001407885.1:c.-67A>T
NM_001407886.1:c.-67A>T
NM_001407887.1:c.-67A>T
NM_001407889.1:c.-183A>T
NM_001407894.1:c.-67A>T
NM_001407895.1:c.-67A>T
NM_001407896.1:c.-67A>T
NM_001407897.1:c.-67A>T
NM_001407899.1:c.-67A>T
NM_001407900.1:c.-183A>T
NM_001407904.1:c.-67A>T
NM_001407906.1:c.-67A>T
NM_001407907.1:c.-67A>T
NM_001407908.1:c.-67A>T
NM_001407909.1:c.-67A>T
NM_001407910.1:c.-67A>T
NM_001407915.1:c.-67A>T
NM_001407916.1:c.-67A>T
NM_001407917.1:c.-67A>T
NM_001407918.1:c.-67A>T
NM_001407919.1:c.122A>T
NM_001407920.1:c.-20A>T
NM_001407921.1:c.-20A>T
NM_001407922.1:c.-20A>T
NM_001407923.1:c.-20A>T
NM_001407926.1:c.-20A>T
NM_001407927.1:c.-20A>T
NM_001407930.1:c.-136A>T
NM_001407933.1:c.-20A>T
NM_001407934.1:c.-20A>T
NM_001407935.1:c.-20A>T
NM_001407937.1:c.122A>T
NM_001407938.1:c.122A>T
NM_001407939.1:c.122A>T
NM_001407940.1:c.122A>T
NM_001407941.1:c.122A>T
NM_001407942.1:c.-136A>T
NM_001407943.1:c.-20A>T
NM_001407944.1:c.-20A>T
NM_001407946.1:c.-67A>T
NM_001407947.1:c.-67A>T
NM_001407948.1:c.-67A>T
NM_001407949.1:c.-67A>T
NM_001407950.1:c.-67A>T
NM_001407951.1:c.-67A>T
NM_001407952.1:c.-67A>T
NM_001407953.1:c.-67A>T
NM_001407954.1:c.-67A>T
NM_001407955.1:c.-67A>T
NM_001407956.1:c.-67A>T
NM_001407957.1:c.-67A>T
NM_001407958.1:c.-67A>T
NM_001407960.1:c.-182A>T
NM_001407962.1:c.-182A>T
NM_001407964.1:c.-20A>T
NM_001407965.1:c.-298A>T
NM_001407968.1:c.122A>T
NM_001407969.1:c.122A>T
NM_001407970.1:c.122A>T
NM_001407971.1:c.122A>T
NM_001407972.1:c.122A>T
NM_001407973.1:c.122A>T
NM_001407974.1:c.122A>T
NM_001407975.1:c.122A>T
NM_001407976.1:c.122A>T
NM_001407977.1:c.122A>T
NM_001407978.1:c.122A>T
NM_001407979.1:c.122A>T
NM_001407980.1:c.122A>T
NM_001407981.1:c.122A>T
NM_001407982.1:c.122A>T
NM_001407983.1:c.122A>T
NM_001407984.1:c.122A>T
NM_001407985.1:c.122A>T
NM_001407986.1:c.122A>T
NM_001407990.1:c.122A>T
NM_001407991.1:c.122A>T
NM_001407992.1:c.122A>T
NM_001407993.1:c.122A>T
NM_001408392.1:c.122A>T
NM_001408396.1:c.122A>T
NM_001408397.1:c.122A>T
NM_001408398.1:c.122A>T
NM_001408399.1:c.122A>T
NM_001408400.1:c.122A>T
NM_001408401.1:c.122A>T
NM_001408402.1:c.122A>T
NM_001408403.1:c.122A>T
NM_001408404.1:c.122A>T
NM_001408406.1:c.122A>T
NM_001408407.1:c.122A>T
NM_001408408.1:c.122A>T
NM_001408409.1:c.122A>T
NM_001408410.1:c.-20A>T
NM_001408411.1:c.122A>T
NM_001408412.1:c.122A>T
NM_001408413.1:c.122A>T
NM_001408414.1:c.122A>T
NM_001408415.1:c.122A>T
NM_001408416.1:c.122A>T
NM_001408418.1:c.122A>T
NM_001408419.1:c.122A>T
NM_001408420.1:c.122A>T
NM_001408421.1:c.122A>T
NM_001408422.1:c.122A>T
NM_001408423.1:c.122A>T
NM_001408424.1:c.122A>T
NM_001408425.1:c.122A>T
NM_001408426.1:c.122A>T
NM_001408427.1:c.122A>T
NM_001408428.1:c.122A>T
NM_001408429.1:c.122A>T
NM_001408430.1:c.122A>T
NM_001408431.1:c.122A>T
NM_001408432.1:c.122A>T
NM_001408433.1:c.122A>T
NM_001408434.1:c.122A>T
NM_001408435.1:c.122A>T
NM_001408436.1:c.122A>T
NM_001408437.1:c.122A>T
NM_001408438.1:c.122A>T
NM_001408439.1:c.122A>T
NM_001408440.1:c.122A>T
NM_001408441.1:c.122A>T
NM_001408442.1:c.122A>T
NM_001408443.1:c.122A>T
NM_001408444.1:c.122A>T
NM_001408445.1:c.122A>T
NM_001408446.1:c.122A>T
NM_001408447.1:c.122A>T
NM_001408448.1:c.122A>T
NM_001408450.1:c.122A>T
NM_001408452.1:c.-20A>T
NM_001408453.1:c.-20A>T
NM_001408455.1:c.-136A>T
NM_001408456.1:c.-136A>T
NM_001408458.1:c.-20A>T
NM_001408462.1:c.-20A>T
NM_001408463.1:c.-20A>T
NM_001408465.1:c.-140A>T
NM_001408466.1:c.-20A>T
NM_001408468.1:c.-136A>T
NM_001408469.1:c.-20A>T
NM_001408470.1:c.-20A>T
NM_001408472.1:c.122A>T
NM_001408473.1:c.122A>T
NM_001408474.1:c.122A>T
NM_001408475.1:c.122A>T
NM_001408476.1:c.122A>T
NM_001408478.1:c.-67A>T
NM_001408479.1:c.-67A>T
NM_001408480.1:c.-67A>T
NM_001408481.1:c.-67A>T
NM_001408482.1:c.-67A>T
NM_001408483.1:c.-67A>T
NM_001408484.1:c.-67A>T
NM_001408485.1:c.-67A>T
NM_001408489.1:c.-67A>T
NM_001408490.1:c.-67A>T
NM_001408491.1:c.-67A>T
NM_001408492.1:c.-183A>T
NM_001408493.1:c.-67A>T
NM_001408494.1:c.122A>T
NM_001408495.1:c.122A>T
NM_001408497.1:c.-20A>T
NM_001408499.1:c.-20A>T
NM_001408500.1:c.-20A>T
NM_001408501.1:c.-136A>T
NM_001408502.1:c.-67A>T
NM_001408503.1:c.-20A>T
NM_001408504.1:c.-20A>T
NM_001408505.1:c.-20A>T
NM_001408506.1:c.-67A>T
NM_001408507.1:c.-67A>T
NM_001408508.1:c.-67A>T
NM_001408509.1:c.-67A>T
NM_001408510.1:c.-182A>T
NM_001408512.1:c.-182A>T
NM_001408513.1:c.-67A>T
NM_001408514.1:c.-67A>T
NM_007294.4:c.122A>TMANE SELECT
NM_007297.4:c.-8+8279A>T
NM_007298.4:c.122A>T
NM_007299.4:c.122A>T
NM_007300.4:c.122A>T
NM_007304.2:c.122A>T
NP_001394510.1:p.His41Leu
NP_001394511.1:p.His41Leu
NP_001394512.1:p.His41Leu
NP_001394514.1:p.His41Leu
NP_001394516.1:p.His41Leu
NP_001394519.1:p.His41Leu
NP_001394520.1:p.His41Leu
NP_001394522.1:p.His41Leu
NP_001394523.1:p.His41Leu
NP_001394525.1:p.His41Leu
NP_001394526.1:p.His41Leu
NP_001394527.1:p.His41Leu
NP_001394531.1:p.His41Leu
NP_001394532.1:p.His41Leu
NP_001394534.1:p.His41Leu
NP_001394539.1:p.His41Leu
NP_001394540.1:p.His41Leu
NP_001394541.1:p.His41Leu
NP_001394542.1:p.His41Leu
NP_001394543.1:p.His41Leu
NP_001394544.1:p.His41Leu
NP_001394545.1:p.His41Leu
NP_001394546.1:p.His41Leu
NP_001394547.1:p.His41Leu
NP_001394548.1:p.His41Leu
NP_001394549.1:p.His41Leu
NP_001394550.1:p.His41Leu
NP_001394551.1:p.His41Leu
NP_001394552.1:p.His41Leu
NP_001394553.1:p.His41Leu
NP_001394554.1:p.His41Leu
NP_001394555.1:p.His41Leu
NP_001394556.1:p.His41Leu
NP_001394557.1:p.His41Leu
NP_001394558.1:p.His41Leu
NP_001394559.1:p.His41Leu
NP_001394560.1:p.His41Leu
NP_001394561.1:p.His41Leu
NP_001394562.1:p.His41Leu
NP_001394563.1:p.His41Leu
NP_001394564.1:p.His41Leu
NP_001394565.1:p.His41Leu
NP_001394566.1:p.His41Leu
NP_001394567.1:p.His41Leu
NP_001394568.1:p.His41Leu
NP_001394569.1:p.His41Leu
NP_001394570.1:p.His41Leu
NP_001394571.1:p.His41Leu
NP_001394573.1:p.His41Leu
NP_001394574.1:p.His41Leu
NP_001394575.1:p.His41Leu
NP_001394576.1:p.His41Leu
NP_001394577.1:p.His41Leu
NP_001394578.1:p.His41Leu
NP_001394581.1:p.His41Leu
NP_001394582.1:p.His41Leu
NP_001394583.1:p.His41Leu
NP_001394584.1:p.His41Leu
NP_001394585.1:p.His41Leu
NP_001394586.1:p.His41Leu
NP_001394587.1:p.His41Leu
NP_001394588.1:p.His41Leu
NP_001394589.1:p.His41Leu
NP_001394590.1:p.His41Leu
NP_001394591.1:p.His41Leu
NP_001394592.1:p.His41Leu
NP_001394593.1:p.His41Leu
NP_001394594.1:p.His41Leu
NP_001394595.1:p.His41Leu
NP_001394596.1:p.His41Leu
NP_001394597.1:p.His41Leu
NP_001394598.1:p.His41Leu
NP_001394599.1:p.His41Leu
NP_001394600.1:p.His41Leu
NP_001394601.1:p.His41Leu
NP_001394602.1:p.His41Leu
NP_001394603.1:p.His41Leu
NP_001394604.1:p.His41Leu
NP_001394605.1:p.His41Leu
NP_001394606.1:p.His41Leu
NP_001394607.1:p.His41Leu
NP_001394608.1:p.His41Leu
NP_001394609.1:p.His41Leu
NP_001394610.1:p.His41Leu
NP_001394611.1:p.His41Leu
NP_001394612.1:p.His41Leu
NP_001394613.1:p.His41Leu
NP_001394614.1:p.His41Leu
NP_001394615.1:p.His41Leu
NP_001394616.1:p.His41Leu
NP_001394617.1:p.His41Leu
NP_001394618.1:p.His41Leu
NP_001394619.1:p.His41Leu
NP_001394620.1:p.His41Leu
NP_001394783.1:p.His41Leu
NP_001394787.1:p.His41Leu
NP_001394788.1:p.His41Leu
NP_001394789.1:p.His41Leu
NP_001394790.1:p.His41Leu
NP_001394791.1:p.His41Leu
NP_001394792.1:p.His41Leu
NP_001394803.1:p.His41Leu
NP_001394804.1:p.His41Leu
NP_001394848.1:p.His41Leu
NP_001394866.1:p.His41Leu
NP_001394867.1:p.His41Leu
NP_001394868.1:p.His41Leu
NP_001394869.1:p.His41Leu
NP_001394870.1:p.His41Leu
NP_001394897.1:p.His41Leu
NP_001394898.1:p.His41Leu
NP_001394899.1:p.His41Leu
NP_001394900.1:p.His41Leu
NP_001394901.1:p.His41Leu
NP_001394902.1:p.His41Leu
NP_001394903.1:p.His41Leu
NP_001394904.1:p.His41Leu
NP_001394905.1:p.His41Leu
NP_001394906.1:p.His41Leu
NP_001394907.1:p.His41Leu
NP_001394908.1:p.His41Leu
NP_001394909.1:p.His41Leu
NP_001394910.1:p.His41Leu
NP_001394911.1:p.His41Leu
NP_001394912.1:p.His41Leu
NP_001394913.1:p.His41Leu
NP_001394914.1:p.His41Leu
NP_001394915.1:p.His41Leu
NP_001394919.1:p.His41Leu
NP_001394920.1:p.His41Leu
NP_001394921.1:p.His41Leu
NP_001394922.1:p.His41Leu
NP_001395321.1:p.His41Leu
NP_001395325.1:p.His41Leu
NP_001395326.1:p.His41Leu
NP_001395327.1:p.His41Leu
NP_001395328.1:p.His41Leu
NP_001395329.1:p.His41Leu
NP_001395330.1:p.His41Leu
NP_001395331.1:p.His41Leu
NP_001395332.1:p.His41Leu
NP_001395333.1:p.His41Leu
NP_001395335.1:p.His41Leu
NP_001395336.1:p.His41Leu
NP_001395337.1:p.His41Leu
NP_001395338.1:p.His41Leu
NP_001395340.1:p.His41Leu
NP_001395341.1:p.His41Leu
NP_001395342.1:p.His41Leu
NP_001395343.1:p.His41Leu
NP_001395344.1:p.His41Leu
NP_001395345.1:p.His41Leu
NP_001395347.1:p.His41Leu
NP_001395348.1:p.His41Leu
NP_001395349.1:p.His41Leu
NP_001395350.1:p.His41Leu
NP_001395351.1:p.His41Leu
NP_001395352.1:p.His41Leu
NP_001395353.1:p.His41Leu
NP_001395354.1:p.His41Leu
NP_001395355.1:p.His41Leu
NP_001395356.1:p.His41Leu
NP_001395357.1:p.His41Leu
NP_001395358.1:p.His41Leu
NP_001395359.1:p.His41Leu
NP_001395360.1:p.His41Leu
NP_001395361.1:p.His41Leu
NP_001395362.1:p.His41Leu
NP_001395363.1:p.His41Leu
NP_001395364.1:p.His41Leu
NP_001395365.1:p.His41Leu
NP_001395366.1:p.His41Leu
NP_001395367.1:p.His41Leu
NP_001395368.1:p.His41Leu
NP_001395369.1:p.His41Leu
NP_001395370.1:p.His41Leu
NP_001395371.1:p.His41Leu
NP_001395372.1:p.His41Leu
NP_001395373.1:p.His41Leu
NP_001395374.1:p.His41Leu
NP_001395375.1:p.His41Leu
NP_001395376.1:p.His41Leu
NP_001395377.1:p.His41Leu
NP_001395379.1:p.His41Leu
NP_001395401.1:p.His41Leu
NP_001395402.1:p.His41Leu
NP_001395403.1:p.His41Leu
NP_001395404.1:p.His41Leu
NP_001395405.1:p.His41Leu
NP_001395423.1:p.His41Leu
NP_001395424.1:p.His41Leu
NP_009225.1:p.His41Leu
NP_009225.1:p.His41Leu
NP_009229.2:p.His41Leu
NP_009229.2:p.His41Leu
NP_009230.2:p.His41Leu
NP_009231.2:p.His41Leu
NP_009235.2:p.His41Leu
LRG_292t1:c.122A>T
LRG_292:g.102246A>T
LRG_292p1:p.His41Leu
NC_000017.10:g.41267755T>A
NM_007294.3:c.122A>T
NM_007298.3:c.122A>T
NR_027676.2:n.324A>T

Protein change:

H41L

Links:

dbSNP: rs80357276

NCBI 1000 Genomes Browser:

rs80357276

Molecular consequence:

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

Functional consequence:

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

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast-ovarian cancer, familial 1; 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
SCV001237887	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,
SCV004216897	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Oct 17, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001237887

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,

SCV004216897

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Oct 17, 2022)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

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
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	not applicable	not applicable	not provided	not provided	not provided	not provided	not provided	in vitro

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory.

Strom CM, Rivera S, Elzinga C, Angeloni T, Rosenthal SH, Goos-Root D, Siaw M, Platt J, Braastadt C, Cheng L, Ross D, Sun W.

PLoS One. 2015;10(8):e0136419. doi: 10.1371/journal.pone.0136419.

PubMed [citation]

PMID:: 26295337
PMCID:: PMC4546651

See all PubMed Citations (6)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296354.2

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

#	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 Counsyl, SCV000784758.2

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

#	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 Brotman Baty Institute, University of Washington, SCV001237887.1

#	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 Baylor Genetics, SCV004216897.1

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

#	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

Flagged submissions

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000296354	Quest Diagnostics Nichols Institute San Juan Capistrano	flagged submission Reason: Outlier claim with insufficient supporting evidence Notes: None (Quest Diagnostics criteria)	Uncertain significance (Apr 12, 2016)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 16403807, 26467025, 26295337
SCV000784758	Counsyl	flagged submission Reason: Outlier claim with insufficient supporting evidence Notes: None (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Nov 21, 2017)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25186627, 16403807 Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000296354

Quest Diagnostics Nichols Institute San Juan Capistrano

flagged submission

Reason: Outlier claim with insufficient supporting evidence

Notes: None

(Quest Diagnostics criteria)

Uncertain significance
(Apr 12, 2016)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV000784758

Counsyl

flagged submission

Reason: Outlier claim with insufficient supporting evidence

Notes: None

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Uncertain significance
(Nov 21, 2017)

unknown

clinical testing

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

Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf

Citation Link

Last Updated: Jul 15, 2024

ClinVar

Relating variation to medicine