NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) AND Breast and/or ovarian cancer

Germline classification:: Likely benign (4 submissions)
Last evaluated:: Nov 15, 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:: RCV000148400.15

Allele description [Variation Report for NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)]

NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)

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.736T>G (p.Leu246Val)

Other names:

p.L246V:TTG>GTG; 855T>G

HGVS:

NC_000017.11:g.43094795A>C
NG_005905.2:g.123189T>G
NM_001407571.1:c.523T>G
NM_001407581.1:c.736T>G
NM_001407582.1:c.736T>G
NM_001407583.1:c.736T>G
NM_001407585.1:c.736T>G
NM_001407587.1:c.733T>G
NM_001407590.1:c.733T>G
NM_001407591.1:c.733T>G
NM_001407593.1:c.736T>G
NM_001407594.1:c.736T>G
NM_001407596.1:c.736T>G
NM_001407597.1:c.736T>G
NM_001407598.1:c.736T>G
NM_001407602.1:c.736T>G
NM_001407603.1:c.736T>G
NM_001407605.1:c.736T>G
NM_001407610.1:c.733T>G
NM_001407611.1:c.733T>G
NM_001407612.1:c.733T>G
NM_001407613.1:c.733T>G
NM_001407614.1:c.733T>G
NM_001407615.1:c.733T>G
NM_001407616.1:c.736T>G
NM_001407617.1:c.736T>G
NM_001407618.1:c.736T>G
NM_001407619.1:c.736T>G
NM_001407620.1:c.736T>G
NM_001407621.1:c.736T>G
NM_001407622.1:c.736T>G
NM_001407623.1:c.736T>G
NM_001407624.1:c.736T>G
NM_001407625.1:c.736T>G
NM_001407626.1:c.736T>G
NM_001407627.1:c.733T>G
NM_001407628.1:c.733T>G
NM_001407629.1:c.733T>G
NM_001407630.1:c.733T>G
NM_001407631.1:c.733T>G
NM_001407632.1:c.733T>G
NM_001407633.1:c.733T>G
NM_001407634.1:c.733T>G
NM_001407635.1:c.733T>G
NM_001407636.1:c.733T>G
NM_001407637.1:c.733T>G
NM_001407638.1:c.733T>G
NM_001407639.1:c.736T>G
NM_001407640.1:c.736T>G
NM_001407641.1:c.736T>G
NM_001407642.1:c.736T>G
NM_001407644.1:c.733T>G
NM_001407645.1:c.733T>G
NM_001407646.1:c.727T>G
NM_001407647.1:c.727T>G
NM_001407648.1:c.613T>G
NM_001407649.1:c.610T>G
NM_001407652.1:c.736T>G
NM_001407653.1:c.658T>G
NM_001407654.1:c.658T>G
NM_001407655.1:c.658T>G
NM_001407656.1:c.658T>G
NM_001407657.1:c.658T>G
NM_001407658.1:c.658T>G
NM_001407659.1:c.655T>G
NM_001407660.1:c.655T>G
NM_001407661.1:c.655T>G
NM_001407662.1:c.655T>G
NM_001407663.1:c.658T>G
NM_001407664.1:c.613T>G
NM_001407665.1:c.613T>G
NM_001407666.1:c.613T>G
NM_001407667.1:c.613T>G
NM_001407668.1:c.613T>G
NM_001407669.1:c.613T>G
NM_001407670.1:c.610T>G
NM_001407671.1:c.610T>G
NM_001407672.1:c.610T>G
NM_001407673.1:c.610T>G
NM_001407674.1:c.613T>G
NM_001407675.1:c.613T>G
NM_001407676.1:c.613T>G
NM_001407677.1:c.613T>G
NM_001407678.1:c.613T>G
NM_001407679.1:c.613T>G
NM_001407680.1:c.613T>G
NM_001407681.1:c.613T>G
NM_001407682.1:c.613T>G
NM_001407683.1:c.613T>G
NM_001407684.1:c.736T>G
NM_001407685.1:c.610T>G
NM_001407686.1:c.610T>G
NM_001407687.1:c.610T>G
NM_001407688.1:c.610T>G
NM_001407689.1:c.610T>G
NM_001407690.1:c.610T>G
NM_001407691.1:c.610T>G
NM_001407692.1:c.595T>G
NM_001407694.1:c.595T>G
NM_001407695.1:c.595T>G
NM_001407696.1:c.595T>G
NM_001407697.1:c.595T>G
NM_001407698.1:c.595T>G
NM_001407724.1:c.595T>G
NM_001407725.1:c.595T>G
NM_001407726.1:c.595T>G
NM_001407727.1:c.595T>G
NM_001407728.1:c.595T>G
NM_001407729.1:c.595T>G
NM_001407730.1:c.595T>G
NM_001407731.1:c.595T>G
NM_001407732.1:c.595T>G
NM_001407733.1:c.595T>G
NM_001407734.1:c.595T>G
NM_001407735.1:c.595T>G
NM_001407736.1:c.595T>G
NM_001407737.1:c.595T>G
NM_001407738.1:c.595T>G
NM_001407739.1:c.595T>G
NM_001407740.1:c.592T>G
NM_001407741.1:c.592T>G
NM_001407742.1:c.592T>G
NM_001407743.1:c.592T>G
NM_001407744.1:c.592T>G
NM_001407745.1:c.592T>G
NM_001407746.1:c.592T>G
NM_001407747.1:c.592T>G
NM_001407748.1:c.592T>G
NM_001407749.1:c.592T>G
NM_001407750.1:c.595T>G
NM_001407751.1:c.595T>G
NM_001407752.1:c.595T>G
NM_001407838.1:c.592T>G
NM_001407839.1:c.592T>G
NM_001407841.1:c.592T>G
NM_001407842.1:c.592T>G
NM_001407843.1:c.592T>G
NM_001407844.1:c.592T>G
NM_001407845.1:c.592T>G
NM_001407846.1:c.592T>G
NM_001407847.1:c.592T>G
NM_001407848.1:c.592T>G
NM_001407849.1:c.592T>G
NM_001407850.1:c.595T>G
NM_001407851.1:c.595T>G
NM_001407852.1:c.595T>G
NM_001407853.1:c.523T>G
NM_001407854.1:c.736T>G
NM_001407858.1:c.736T>G
NM_001407859.1:c.736T>G
NM_001407860.1:c.733T>G
NM_001407861.1:c.733T>G
NM_001407862.1:c.535T>G
NM_001407863.1:c.613T>G
NM_001407874.1:c.532T>G
NM_001407875.1:c.532T>G
NM_001407879.1:c.526T>G
NM_001407881.1:c.526T>G
NM_001407882.1:c.526T>G
NM_001407884.1:c.526T>G
NM_001407885.1:c.526T>G
NM_001407886.1:c.526T>G
NM_001407887.1:c.526T>G
NM_001407889.1:c.526T>G
NM_001407894.1:c.523T>G
NM_001407895.1:c.523T>G
NM_001407896.1:c.523T>G
NM_001407897.1:c.523T>G
NM_001407898.1:c.523T>G
NM_001407899.1:c.523T>G
NM_001407900.1:c.526T>G
NM_001407902.1:c.526T>G
NM_001407904.1:c.526T>G
NM_001407906.1:c.526T>G
NM_001407907.1:c.526T>G
NM_001407908.1:c.526T>G
NM_001407909.1:c.526T>G
NM_001407910.1:c.526T>G
NM_001407915.1:c.523T>G
NM_001407916.1:c.523T>G
NM_001407917.1:c.523T>G
NM_001407918.1:c.523T>G
NM_001407919.1:c.613T>G
NM_001407920.1:c.472T>G
NM_001407921.1:c.472T>G
NM_001407922.1:c.472T>G
NM_001407923.1:c.472T>G
NM_001407924.1:c.472T>G
NM_001407925.1:c.472T>G
NM_001407926.1:c.472T>G
NM_001407927.1:c.472T>G
NM_001407928.1:c.472T>G
NM_001407929.1:c.472T>G
NM_001407930.1:c.469T>G
NM_001407931.1:c.469T>G
NM_001407932.1:c.469T>G
NM_001407933.1:c.472T>G
NM_001407934.1:c.469T>G
NM_001407935.1:c.472T>G
NM_001407936.1:c.469T>G
NM_001407937.1:c.613T>G
NM_001407938.1:c.613T>G
NM_001407939.1:c.613T>G
NM_001407940.1:c.610T>G
NM_001407941.1:c.610T>G
NM_001407942.1:c.595T>G
NM_001407943.1:c.592T>G
NM_001407944.1:c.595T>G
NM_001407945.1:c.595T>G
NM_001407946.1:c.403T>G
NM_001407947.1:c.403T>G
NM_001407948.1:c.403T>G
NM_001407949.1:c.403T>G
NM_001407950.1:c.403T>G
NM_001407951.1:c.403T>G
NM_001407952.1:c.403T>G
NM_001407953.1:c.403T>G
NM_001407954.1:c.400T>G
NM_001407955.1:c.400T>G
NM_001407956.1:c.400T>G
NM_001407957.1:c.403T>G
NM_001407958.1:c.400T>G
NM_001407959.1:c.355T>G
NM_001407960.1:c.355T>G
NM_001407962.1:c.352T>G
NM_001407963.1:c.355T>G
NM_001407964.1:c.592T>G
NM_001407965.1:c.232T>G
NM_001407966.1:c.-153T>G
NM_001407967.1:c.-153T>G
NM_001407968.1:c.736T>G
NM_001407969.1:c.736T>G
NM_001407970.1:c.736T>G
NM_001407971.1:c.736T>G
NM_001407972.1:c.733T>G
NM_001407973.1:c.736T>G
NM_001407974.1:c.736T>G
NM_001407975.1:c.736T>G
NM_001407976.1:c.736T>G
NM_001407977.1:c.736T>G
NM_001407978.1:c.736T>G
NM_001407979.1:c.736T>G
NM_001407980.1:c.736T>G
NM_001407981.1:c.736T>G
NM_001407982.1:c.736T>G
NM_001407983.1:c.736T>G
NM_001407984.1:c.733T>G
NM_001407985.1:c.733T>G
NM_001407986.1:c.733T>G
NM_001407990.1:c.736T>G
NM_001407991.1:c.733T>G
NM_001407992.1:c.733T>G
NM_001407993.1:c.736T>G
NM_001408392.1:c.733T>G
NM_001408396.1:c.733T>G
NM_001408397.1:c.733T>G
NM_001408398.1:c.733T>G
NM_001408399.1:c.733T>G
NM_001408400.1:c.733T>G
NM_001408401.1:c.733T>G
NM_001408402.1:c.733T>G
NM_001408403.1:c.736T>G
NM_001408404.1:c.736T>G
NM_001408406.1:c.736T>G
NM_001408407.1:c.733T>G
NM_001408408.1:c.727T>G
NM_001408409.1:c.658T>G
NM_001408410.1:c.595T>G
NM_001408411.1:c.658T>G
NM_001408412.1:c.658T>G
NM_001408413.1:c.655T>G
NM_001408414.1:c.658T>G
NM_001408415.1:c.658T>G
NM_001408416.1:c.655T>G
NM_001408425.1:c.613T>G
NM_001408426.1:c.613T>G
NM_001408427.1:c.613T>G
NM_001408428.1:c.613T>G
NM_001408429.1:c.613T>G
NM_001408430.1:c.613T>G
NM_001408432.1:c.610T>G
NM_001408433.1:c.610T>G
NM_001408434.1:c.610T>G
NM_001408435.1:c.610T>G
NM_001408436.1:c.613T>G
NM_001408437.1:c.613T>G
NM_001408438.1:c.613T>G
NM_001408439.1:c.613T>G
NM_001408440.1:c.613T>G
NM_001408441.1:c.613T>G
NM_001408442.1:c.613T>G
NM_001408443.1:c.613T>G
NM_001408444.1:c.613T>G
NM_001408445.1:c.610T>G
NM_001408446.1:c.610T>G
NM_001408447.1:c.610T>G
NM_001408448.1:c.610T>G
NM_001408450.1:c.610T>G
NM_001408451.1:c.601T>G
NM_001408452.1:c.595T>G
NM_001408453.1:c.595T>G
NM_001408454.1:c.595T>G
NM_001408455.1:c.595T>G
NM_001408456.1:c.595T>G
NM_001408457.1:c.595T>G
NM_001408458.1:c.595T>G
NM_001408459.1:c.595T>G
NM_001408460.1:c.595T>G
NM_001408461.1:c.595T>G
NM_001408462.1:c.592T>G
NM_001408463.1:c.592T>G
NM_001408464.1:c.592T>G
NM_001408465.1:c.592T>G
NM_001408466.1:c.595T>G
NM_001408467.1:c.595T>G
NM_001408468.1:c.592T>G
NM_001408469.1:c.595T>G
NM_001408470.1:c.592T>G
NM_001408472.1:c.736T>G
NM_001408473.1:c.733T>G
NM_001408474.1:c.535T>G
NM_001408475.1:c.532T>G
NM_001408476.1:c.535T>G
NM_001408478.1:c.526T>G
NM_001408479.1:c.526T>G
NM_001408480.1:c.526T>G
NM_001408481.1:c.526T>G
NM_001408482.1:c.526T>G
NM_001408483.1:c.526T>G
NM_001408484.1:c.526T>G
NM_001408485.1:c.526T>G
NM_001408489.1:c.526T>G
NM_001408490.1:c.523T>G
NM_001408491.1:c.523T>G
NM_001408492.1:c.526T>G
NM_001408493.1:c.523T>G
NM_001408496.1:c.472T>G
NM_001408497.1:c.472T>G
NM_001408498.1:c.472T>G
NM_001408499.1:c.472T>G
NM_001408500.1:c.472T>G
NM_001408501.1:c.472T>G
NM_001408502.1:c.403T>G
NM_001408503.1:c.469T>G
NM_001408504.1:c.469T>G
NM_001408505.1:c.469T>G
NM_001408508.1:c.400T>G
NM_001408509.1:c.400T>G
NM_001408510.1:c.355T>G
NM_001408512.1:c.232T>G
NM_001408513.1:c.526T>G
NM_001408514.1:c.526T>G
NM_007294.4:c.736T>GMANE SELECT
NM_007297.4:c.595T>G
NM_007298.4:c.736T>G
NM_007299.4:c.736T>G
NM_007300.4:c.736T>G
NM_007304.2:c.736T>G
NP_001394500.1:p.Leu175Val
NP_001394510.1:p.Leu246Val
NP_001394511.1:p.Leu246Val
NP_001394512.1:p.Leu246Val
NP_001394514.1:p.Leu246Val
NP_001394516.1:p.Leu245Val
NP_001394519.1:p.Leu245Val
NP_001394520.1:p.Leu245Val
NP_001394522.1:p.Leu246Val
NP_001394523.1:p.Leu246Val
NP_001394525.1:p.Leu246Val
NP_001394526.1:p.Leu246Val
NP_001394527.1:p.Leu246Val
NP_001394531.1:p.Leu246Val
NP_001394532.1:p.Leu246Val
NP_001394534.1:p.Leu246Val
NP_001394539.1:p.Leu245Val
NP_001394540.1:p.Leu245Val
NP_001394541.1:p.Leu245Val
NP_001394542.1:p.Leu245Val
NP_001394543.1:p.Leu245Val
NP_001394544.1:p.Leu245Val
NP_001394545.1:p.Leu246Val
NP_001394546.1:p.Leu246Val
NP_001394547.1:p.Leu246Val
NP_001394548.1:p.Leu246Val
NP_001394549.1:p.Leu246Val
NP_001394550.1:p.Leu246Val
NP_001394551.1:p.Leu246Val
NP_001394552.1:p.Leu246Val
NP_001394553.1:p.Leu246Val
NP_001394554.1:p.Leu246Val
NP_001394555.1:p.Leu246Val
NP_001394556.1:p.Leu245Val
NP_001394557.1:p.Leu245Val
NP_001394558.1:p.Leu245Val
NP_001394559.1:p.Leu245Val
NP_001394560.1:p.Leu245Val
NP_001394561.1:p.Leu245Val
NP_001394562.1:p.Leu245Val
NP_001394563.1:p.Leu245Val
NP_001394564.1:p.Leu245Val
NP_001394565.1:p.Leu245Val
NP_001394566.1:p.Leu245Val
NP_001394567.1:p.Leu245Val
NP_001394568.1:p.Leu246Val
NP_001394569.1:p.Leu246Val
NP_001394570.1:p.Leu246Val
NP_001394571.1:p.Leu246Val
NP_001394573.1:p.Leu245Val
NP_001394574.1:p.Leu245Val
NP_001394575.1:p.Leu243Val
NP_001394576.1:p.Leu243Val
NP_001394577.1:p.Leu205Val
NP_001394578.1:p.Leu204Val
NP_001394581.1:p.Leu246Val
NP_001394582.1:p.Leu220Val
NP_001394583.1:p.Leu220Val
NP_001394584.1:p.Leu220Val
NP_001394585.1:p.Leu220Val
NP_001394586.1:p.Leu220Val
NP_001394587.1:p.Leu220Val
NP_001394588.1:p.Leu219Val
NP_001394589.1:p.Leu219Val
NP_001394590.1:p.Leu219Val
NP_001394591.1:p.Leu219Val
NP_001394592.1:p.Leu220Val
NP_001394593.1:p.Leu205Val
NP_001394594.1:p.Leu205Val
NP_001394595.1:p.Leu205Val
NP_001394596.1:p.Leu205Val
NP_001394597.1:p.Leu205Val
NP_001394598.1:p.Leu205Val
NP_001394599.1:p.Leu204Val
NP_001394600.1:p.Leu204Val
NP_001394601.1:p.Leu204Val
NP_001394602.1:p.Leu204Val
NP_001394603.1:p.Leu205Val
NP_001394604.1:p.Leu205Val
NP_001394605.1:p.Leu205Val
NP_001394606.1:p.Leu205Val
NP_001394607.1:p.Leu205Val
NP_001394608.1:p.Leu205Val
NP_001394609.1:p.Leu205Val
NP_001394610.1:p.Leu205Val
NP_001394611.1:p.Leu205Val
NP_001394612.1:p.Leu205Val
NP_001394613.1:p.Leu246Val
NP_001394614.1:p.Leu204Val
NP_001394615.1:p.Leu204Val
NP_001394616.1:p.Leu204Val
NP_001394617.1:p.Leu204Val
NP_001394618.1:p.Leu204Val
NP_001394619.1:p.Leu204Val
NP_001394620.1:p.Leu204Val
NP_001394621.1:p.Leu199Val
NP_001394623.1:p.Leu199Val
NP_001394624.1:p.Leu199Val
NP_001394625.1:p.Leu199Val
NP_001394626.1:p.Leu199Val
NP_001394627.1:p.Leu199Val
NP_001394653.1:p.Leu199Val
NP_001394654.1:p.Leu199Val
NP_001394655.1:p.Leu199Val
NP_001394656.1:p.Leu199Val
NP_001394657.1:p.Leu199Val
NP_001394658.1:p.Leu199Val
NP_001394659.1:p.Leu199Val
NP_001394660.1:p.Leu199Val
NP_001394661.1:p.Leu199Val
NP_001394662.1:p.Leu199Val
NP_001394663.1:p.Leu199Val
NP_001394664.1:p.Leu199Val
NP_001394665.1:p.Leu199Val
NP_001394666.1:p.Leu199Val
NP_001394667.1:p.Leu199Val
NP_001394668.1:p.Leu199Val
NP_001394669.1:p.Leu198Val
NP_001394670.1:p.Leu198Val
NP_001394671.1:p.Leu198Val
NP_001394672.1:p.Leu198Val
NP_001394673.1:p.Leu198Val
NP_001394674.1:p.Leu198Val
NP_001394675.1:p.Leu198Val
NP_001394676.1:p.Leu198Val
NP_001394677.1:p.Leu198Val
NP_001394678.1:p.Leu198Val
NP_001394679.1:p.Leu199Val
NP_001394680.1:p.Leu199Val
NP_001394681.1:p.Leu199Val
NP_001394767.1:p.Leu198Val
NP_001394768.1:p.Leu198Val
NP_001394770.1:p.Leu198Val
NP_001394771.1:p.Leu198Val
NP_001394772.1:p.Leu198Val
NP_001394773.1:p.Leu198Val
NP_001394774.1:p.Leu198Val
NP_001394775.1:p.Leu198Val
NP_001394776.1:p.Leu198Val
NP_001394777.1:p.Leu198Val
NP_001394778.1:p.Leu198Val
NP_001394779.1:p.Leu199Val
NP_001394780.1:p.Leu199Val
NP_001394781.1:p.Leu199Val
NP_001394782.1:p.Leu175Val
NP_001394783.1:p.Leu246Val
NP_001394787.1:p.Leu246Val
NP_001394788.1:p.Leu246Val
NP_001394789.1:p.Leu245Val
NP_001394790.1:p.Leu245Val
NP_001394791.1:p.Leu179Val
NP_001394792.1:p.Leu205Val
NP_001394803.1:p.Leu178Val
NP_001394804.1:p.Leu178Val
NP_001394808.1:p.Leu176Val
NP_001394810.1:p.Leu176Val
NP_001394811.1:p.Leu176Val
NP_001394813.1:p.Leu176Val
NP_001394814.1:p.Leu176Val
NP_001394815.1:p.Leu176Val
NP_001394816.1:p.Leu176Val
NP_001394818.1:p.Leu176Val
NP_001394823.1:p.Leu175Val
NP_001394824.1:p.Leu175Val
NP_001394825.1:p.Leu175Val
NP_001394826.1:p.Leu175Val
NP_001394827.1:p.Leu175Val
NP_001394828.1:p.Leu175Val
NP_001394829.1:p.Leu176Val
NP_001394831.1:p.Leu176Val
NP_001394833.1:p.Leu176Val
NP_001394835.1:p.Leu176Val
NP_001394836.1:p.Leu176Val
NP_001394837.1:p.Leu176Val
NP_001394838.1:p.Leu176Val
NP_001394839.1:p.Leu176Val
NP_001394844.1:p.Leu175Val
NP_001394845.1:p.Leu175Val
NP_001394846.1:p.Leu175Val
NP_001394847.1:p.Leu175Val
NP_001394848.1:p.Leu205Val
NP_001394849.1:p.Leu158Val
NP_001394850.1:p.Leu158Val
NP_001394851.1:p.Leu158Val
NP_001394852.1:p.Leu158Val
NP_001394853.1:p.Leu158Val
NP_001394854.1:p.Leu158Val
NP_001394855.1:p.Leu158Val
NP_001394856.1:p.Leu158Val
NP_001394857.1:p.Leu158Val
NP_001394858.1:p.Leu158Val
NP_001394859.1:p.Leu157Val
NP_001394860.1:p.Leu157Val
NP_001394861.1:p.Leu157Val
NP_001394862.1:p.Leu158Val
NP_001394863.1:p.Leu157Val
NP_001394864.1:p.Leu158Val
NP_001394865.1:p.Leu157Val
NP_001394866.1:p.Leu205Val
NP_001394867.1:p.Leu205Val
NP_001394868.1:p.Leu205Val
NP_001394869.1:p.Leu204Val
NP_001394870.1:p.Leu204Val
NP_001394871.1:p.Leu199Val
NP_001394872.1:p.Leu198Val
NP_001394873.1:p.Leu199Val
NP_001394874.1:p.Leu199Val
NP_001394875.1:p.Leu135Val
NP_001394876.1:p.Leu135Val
NP_001394877.1:p.Leu135Val
NP_001394878.1:p.Leu135Val
NP_001394879.1:p.Leu135Val
NP_001394880.1:p.Leu135Val
NP_001394881.1:p.Leu135Val
NP_001394882.1:p.Leu135Val
NP_001394883.1:p.Leu134Val
NP_001394884.1:p.Leu134Val
NP_001394885.1:p.Leu134Val
NP_001394886.1:p.Leu135Val
NP_001394887.1:p.Leu134Val
NP_001394888.1:p.Leu119Val
NP_001394889.1:p.Leu119Val
NP_001394891.1:p.Leu118Val
NP_001394892.1:p.Leu119Val
NP_001394893.1:p.Leu198Val
NP_001394894.1:p.Leu78Val
NP_001394897.1:p.Leu246Val
NP_001394898.1:p.Leu246Val
NP_001394899.1:p.Leu246Val
NP_001394900.1:p.Leu246Val
NP_001394901.1:p.Leu245Val
NP_001394902.1:p.Leu246Val
NP_001394903.1:p.Leu246Val
NP_001394904.1:p.Leu246Val
NP_001394905.1:p.Leu246Val
NP_001394906.1:p.Leu246Val
NP_001394907.1:p.Leu246Val
NP_001394908.1:p.Leu246Val
NP_001394909.1:p.Leu246Val
NP_001394910.1:p.Leu246Val
NP_001394911.1:p.Leu246Val
NP_001394912.1:p.Leu246Val
NP_001394913.1:p.Leu245Val
NP_001394914.1:p.Leu245Val
NP_001394915.1:p.Leu245Val
NP_001394919.1:p.Leu246Val
NP_001394920.1:p.Leu245Val
NP_001394921.1:p.Leu245Val
NP_001394922.1:p.Leu246Val
NP_001395321.1:p.Leu245Val
NP_001395325.1:p.Leu245Val
NP_001395326.1:p.Leu245Val
NP_001395327.1:p.Leu245Val
NP_001395328.1:p.Leu245Val
NP_001395329.1:p.Leu245Val
NP_001395330.1:p.Leu245Val
NP_001395331.1:p.Leu245Val
NP_001395332.1:p.Leu246Val
NP_001395333.1:p.Leu246Val
NP_001395335.1:p.Leu246Val
NP_001395336.1:p.Leu245Val
NP_001395337.1:p.Leu243Val
NP_001395338.1:p.Leu220Val
NP_001395339.1:p.Leu199Val
NP_001395340.1:p.Leu220Val
NP_001395341.1:p.Leu220Val
NP_001395342.1:p.Leu219Val
NP_001395343.1:p.Leu220Val
NP_001395344.1:p.Leu220Val
NP_001395345.1:p.Leu219Val
NP_001395354.1:p.Leu205Val
NP_001395355.1:p.Leu205Val
NP_001395356.1:p.Leu205Val
NP_001395357.1:p.Leu205Val
NP_001395358.1:p.Leu205Val
NP_001395359.1:p.Leu205Val
NP_001395361.1:p.Leu204Val
NP_001395362.1:p.Leu204Val
NP_001395363.1:p.Leu204Val
NP_001395364.1:p.Leu204Val
NP_001395365.1:p.Leu205Val
NP_001395366.1:p.Leu205Val
NP_001395367.1:p.Leu205Val
NP_001395368.1:p.Leu205Val
NP_001395369.1:p.Leu205Val
NP_001395370.1:p.Leu205Val
NP_001395371.1:p.Leu205Val
NP_001395372.1:p.Leu205Val
NP_001395373.1:p.Leu205Val
NP_001395374.1:p.Leu204Val
NP_001395375.1:p.Leu204Val
NP_001395376.1:p.Leu204Val
NP_001395377.1:p.Leu204Val
NP_001395379.1:p.Leu204Val
NP_001395380.1:p.Leu201Val
NP_001395381.1:p.Leu199Val
NP_001395382.1:p.Leu199Val
NP_001395383.1:p.Leu199Val
NP_001395384.1:p.Leu199Val
NP_001395385.1:p.Leu199Val
NP_001395386.1:p.Leu199Val
NP_001395387.1:p.Leu199Val
NP_001395388.1:p.Leu199Val
NP_001395389.1:p.Leu199Val
NP_001395390.1:p.Leu199Val
NP_001395391.1:p.Leu198Val
NP_001395392.1:p.Leu198Val
NP_001395393.1:p.Leu198Val
NP_001395394.1:p.Leu198Val
NP_001395395.1:p.Leu199Val
NP_001395396.1:p.Leu199Val
NP_001395397.1:p.Leu198Val
NP_001395398.1:p.Leu199Val
NP_001395399.1:p.Leu198Val
NP_001395401.1:p.Leu246Val
NP_001395402.1:p.Leu245Val
NP_001395403.1:p.Leu179Val
NP_001395404.1:p.Leu178Val
NP_001395405.1:p.Leu179Val
NP_001395407.1:p.Leu176Val
NP_001395408.1:p.Leu176Val
NP_001395409.1:p.Leu176Val
NP_001395410.1:p.Leu176Val
NP_001395411.1:p.Leu176Val
NP_001395412.1:p.Leu176Val
NP_001395413.1:p.Leu176Val
NP_001395414.1:p.Leu176Val
NP_001395418.1:p.Leu176Val
NP_001395419.1:p.Leu175Val
NP_001395420.1:p.Leu175Val
NP_001395421.1:p.Leu176Val
NP_001395422.1:p.Leu175Val
NP_001395425.1:p.Leu158Val
NP_001395426.1:p.Leu158Val
NP_001395427.1:p.Leu158Val
NP_001395428.1:p.Leu158Val
NP_001395429.1:p.Leu158Val
NP_001395430.1:p.Leu158Val
NP_001395431.1:p.Leu135Val
NP_001395432.1:p.Leu157Val
NP_001395433.1:p.Leu157Val
NP_001395434.1:p.Leu157Val
NP_001395437.1:p.Leu134Val
NP_001395438.1:p.Leu134Val
NP_001395439.1:p.Leu119Val
NP_001395441.1:p.Leu78Val
NP_001395442.1:p.Leu176Val
NP_001395443.1:p.Leu176Val
NP_009225.1:p.Leu246Val
NP_009225.1:p.Leu246Val
NP_009228.2:p.Leu199Val
NP_009229.2:p.Leu246Val
NP_009229.2:p.Leu246Val
NP_009230.2:p.Leu246Val
NP_009231.2:p.Leu246Val
NP_009235.2:p.Leu246Val
LRG_292t1:c.736T>G
LRG_292:g.123189T>G
LRG_292p1:p.Leu246Val
NC_000017.10:g.41246812A>C
NM_007294.3:c.736T>G
NM_007298.3:c.736T>G
NM_007299.3:c.736T>G
NM_007300.3:c.736T>G
NR_027676.2:n.913T>G
P38398:p.Leu246Val
U14680.1:n.855T>G
p.L246V

Protein change:

L118V

Links:

BRCA1-HCI: BRCA1_00017; UniProtKB: P38398#VAR_070471; dbSNP: rs28897675

NCBI 1000 Genomes Browser:

rs28897675

Molecular consequence:

NM_001407571.1:c.523T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.727T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.727T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.610T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.658T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.658T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.658T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.658T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.658T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.658T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.655T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.655T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.655T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.655T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.658T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.610T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.610T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.610T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.610T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.610T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.610T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.610T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.610T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.610T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.610T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.610T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.523T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.535T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.532T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.532T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.523T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.523T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.523T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.523T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.523T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.523T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.523T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.523T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.523T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.523T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.472T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.472T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.472T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.472T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.472T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.472T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.472T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.472T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.472T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.472T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.469T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.469T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.469T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.472T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.469T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.472T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.469T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.610T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.610T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.403T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.403T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.403T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.403T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.403T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.403T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.403T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.403T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.400T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.400T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.400T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.403T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.400T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.355T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.355T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.352T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.355T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.232T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407968.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407969.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407970.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407971.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407972.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407973.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407974.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407975.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407976.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407977.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407978.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407979.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407980.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407981.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407982.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407983.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407984.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407985.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407986.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407990.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407991.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407992.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407993.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408392.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408396.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408397.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408398.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408399.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408400.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408401.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408402.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408403.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408404.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408406.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408407.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408408.1:c.727T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408409.1:c.658T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408410.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408411.1:c.658T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408412.1:c.658T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408413.1:c.655T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408414.1:c.658T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408415.1:c.658T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408416.1:c.655T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408425.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408426.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408427.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408428.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408429.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408430.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408432.1:c.610T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408433.1:c.610T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408434.1:c.610T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408435.1:c.610T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408436.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408437.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408438.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408439.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408440.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408441.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408442.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408443.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408444.1:c.613T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408445.1:c.610T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408446.1:c.610T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408447.1:c.610T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408448.1:c.610T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408450.1:c.610T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408451.1:c.601T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408452.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408453.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408454.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408455.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408456.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408457.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408458.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408459.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408460.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408461.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408462.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408463.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408464.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408465.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408466.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408467.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408468.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408469.1:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408470.1:c.592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408472.1:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408473.1:c.733T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408474.1:c.535T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408475.1:c.532T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408476.1:c.535T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408478.1:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408479.1:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408480.1:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408481.1:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408482.1:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408483.1:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408484.1:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408485.1:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408489.1:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408490.1:c.523T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408491.1:c.523T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408492.1:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408493.1:c.523T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408496.1:c.472T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408497.1:c.472T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408498.1:c.472T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408499.1:c.472T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408500.1:c.472T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408501.1:c.472T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408502.1:c.403T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408503.1:c.469T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408504.1:c.469T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408505.1:c.469T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408508.1:c.400T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408509.1:c.400T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408510.1:c.355T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408512.1:c.232T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408513.1:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001408514.1:c.526T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.595T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007298.4:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007299.4:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007304.2:c.736T>G - missense variant - [Sequence Ontology: SO:0001583]
NR_027676.2:n.913T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Breast and/or ovarian cancer
Identifiers:: MedGen: CN221562

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000190099	CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation	no assertion criteria provided	Uncertain significance (Jun 1, 2014)	germline	research
SCV000324818	CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Nov 15, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000863627	Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research - The Canadian Open Genetics Repository (COGR)	no assertion criteria provided	Uncertain significance (Mar 15, 2002)	germline	clinical testing
SCV001333444	CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Jun 7, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

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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, research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation, SCV000190099.1

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

#	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 CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario, SCV000324818.2

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research - The Canadian Open Genetics Repository (COGR), SCV000863627.1

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

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

From CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario, SCV001333444.2

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

ClinVar

Relating variation to medicine