NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) AND not specified

Germline classification:: Benign/Likely benign (10 submissions)
Last evaluated:: Aug 15, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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

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

Record status:: current
Accession:: RCV000120286.36

Allele description [Variation Report for NM_007294.4(BRCA1):c.1487G>A (p.Arg496His)]

NM_007294.4(BRCA1):c.1487G>A (p.Arg496His)

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.1487G>A (p.Arg496His)

Other names:

p.R496H:CGT>CAT; 1606G>A; NP_009225.1:p.Arg496His

HGVS:

NC_000017.11:g.43094044C>T
NG_005905.2:g.123940G>A
NM_001407571.1:c.1274G>A
NM_001407581.1:c.1487G>A
NM_001407582.1:c.1487G>A
NM_001407583.1:c.1487G>A
NM_001407585.1:c.1487G>A
NM_001407587.1:c.1484G>A
NM_001407590.1:c.1484G>A
NM_001407591.1:c.1484G>A
NM_001407593.1:c.1487G>A
NM_001407594.1:c.1487G>A
NM_001407596.1:c.1487G>A
NM_001407597.1:c.1487G>A
NM_001407598.1:c.1487G>A
NM_001407602.1:c.1487G>A
NM_001407603.1:c.1487G>A
NM_001407605.1:c.1487G>A
NM_001407610.1:c.1484G>A
NM_001407611.1:c.1484G>A
NM_001407612.1:c.1484G>A
NM_001407613.1:c.1484G>A
NM_001407614.1:c.1484G>A
NM_001407615.1:c.1484G>A
NM_001407616.1:c.1487G>A
NM_001407617.1:c.1487G>A
NM_001407618.1:c.1487G>A
NM_001407619.1:c.1487G>A
NM_001407620.1:c.1487G>A
NM_001407621.1:c.1487G>A
NM_001407622.1:c.1487G>A
NM_001407623.1:c.1487G>A
NM_001407624.1:c.1487G>A
NM_001407625.1:c.1487G>A
NM_001407626.1:c.1487G>A
NM_001407627.1:c.1484G>A
NM_001407628.1:c.1484G>A
NM_001407629.1:c.1484G>A
NM_001407630.1:c.1484G>A
NM_001407631.1:c.1484G>A
NM_001407632.1:c.1484G>A
NM_001407633.1:c.1484G>A
NM_001407634.1:c.1484G>A
NM_001407635.1:c.1484G>A
NM_001407636.1:c.1484G>A
NM_001407637.1:c.1484G>A
NM_001407638.1:c.1484G>A
NM_001407639.1:c.1487G>A
NM_001407640.1:c.1487G>A
NM_001407641.1:c.1487G>A
NM_001407642.1:c.1487G>A
NM_001407644.1:c.1484G>A
NM_001407645.1:c.1484G>A
NM_001407646.1:c.1478G>A
NM_001407647.1:c.1478G>A
NM_001407648.1:c.1364G>A
NM_001407649.1:c.1361G>A
NM_001407652.1:c.1487G>A
NM_001407653.1:c.1409G>A
NM_001407654.1:c.1409G>A
NM_001407655.1:c.1409G>A
NM_001407656.1:c.1409G>A
NM_001407657.1:c.1409G>A
NM_001407658.1:c.1409G>A
NM_001407659.1:c.1406G>A
NM_001407660.1:c.1406G>A
NM_001407661.1:c.1406G>A
NM_001407662.1:c.1406G>A
NM_001407663.1:c.1409G>A
NM_001407664.1:c.1364G>A
NM_001407665.1:c.1364G>A
NM_001407666.1:c.1364G>A
NM_001407667.1:c.1364G>A
NM_001407668.1:c.1364G>A
NM_001407669.1:c.1364G>A
NM_001407670.1:c.1361G>A
NM_001407671.1:c.1361G>A
NM_001407672.1:c.1361G>A
NM_001407673.1:c.1361G>A
NM_001407674.1:c.1364G>A
NM_001407675.1:c.1364G>A
NM_001407676.1:c.1364G>A
NM_001407677.1:c.1364G>A
NM_001407678.1:c.1364G>A
NM_001407679.1:c.1364G>A
NM_001407680.1:c.1364G>A
NM_001407681.1:c.1364G>A
NM_001407682.1:c.1364G>A
NM_001407683.1:c.1364G>A
NM_001407684.1:c.1487G>A
NM_001407685.1:c.1361G>A
NM_001407686.1:c.1361G>A
NM_001407687.1:c.1361G>A
NM_001407688.1:c.1361G>A
NM_001407689.1:c.1361G>A
NM_001407690.1:c.1361G>A
NM_001407691.1:c.1361G>A
NM_001407692.1:c.1346G>A
NM_001407694.1:c.1346G>A
NM_001407695.1:c.1346G>A
NM_001407696.1:c.1346G>A
NM_001407697.1:c.1346G>A
NM_001407698.1:c.1346G>A
NM_001407724.1:c.1346G>A
NM_001407725.1:c.1346G>A
NM_001407726.1:c.1346G>A
NM_001407727.1:c.1346G>A
NM_001407728.1:c.1346G>A
NM_001407729.1:c.1346G>A
NM_001407730.1:c.1346G>A
NM_001407731.1:c.1346G>A
NM_001407732.1:c.1346G>A
NM_001407733.1:c.1346G>A
NM_001407734.1:c.1346G>A
NM_001407735.1:c.1346G>A
NM_001407736.1:c.1346G>A
NM_001407737.1:c.1346G>A
NM_001407738.1:c.1346G>A
NM_001407739.1:c.1346G>A
NM_001407740.1:c.1343G>A
NM_001407741.1:c.1343G>A
NM_001407742.1:c.1343G>A
NM_001407743.1:c.1343G>A
NM_001407744.1:c.1343G>A
NM_001407745.1:c.1343G>A
NM_001407746.1:c.1343G>A
NM_001407747.1:c.1343G>A
NM_001407748.1:c.1343G>A
NM_001407749.1:c.1343G>A
NM_001407750.1:c.1346G>A
NM_001407751.1:c.1346G>A
NM_001407752.1:c.1346G>A
NM_001407838.1:c.1343G>A
NM_001407839.1:c.1343G>A
NM_001407841.1:c.1343G>A
NM_001407842.1:c.1343G>A
NM_001407843.1:c.1343G>A
NM_001407844.1:c.1343G>A
NM_001407845.1:c.1343G>A
NM_001407846.1:c.1343G>A
NM_001407847.1:c.1343G>A
NM_001407848.1:c.1343G>A
NM_001407849.1:c.1343G>A
NM_001407850.1:c.1346G>A
NM_001407851.1:c.1346G>A
NM_001407852.1:c.1346G>A
NM_001407853.1:c.1274G>A
NM_001407854.1:c.1487G>A
NM_001407858.1:c.1487G>A
NM_001407859.1:c.1487G>A
NM_001407860.1:c.1484G>A
NM_001407861.1:c.1484G>A
NM_001407862.1:c.1286G>A
NM_001407863.1:c.1364G>A
NM_001407874.1:c.1283G>A
NM_001407875.1:c.1283G>A
NM_001407879.1:c.1277G>A
NM_001407881.1:c.1277G>A
NM_001407882.1:c.1277G>A
NM_001407884.1:c.1277G>A
NM_001407885.1:c.1277G>A
NM_001407886.1:c.1277G>A
NM_001407887.1:c.1277G>A
NM_001407889.1:c.1277G>A
NM_001407894.1:c.1274G>A
NM_001407895.1:c.1274G>A
NM_001407896.1:c.1274G>A
NM_001407897.1:c.1274G>A
NM_001407898.1:c.1274G>A
NM_001407899.1:c.1274G>A
NM_001407900.1:c.1277G>A
NM_001407902.1:c.1277G>A
NM_001407904.1:c.1277G>A
NM_001407906.1:c.1277G>A
NM_001407907.1:c.1277G>A
NM_001407908.1:c.1277G>A
NM_001407909.1:c.1277G>A
NM_001407910.1:c.1277G>A
NM_001407915.1:c.1274G>A
NM_001407916.1:c.1274G>A
NM_001407917.1:c.1274G>A
NM_001407918.1:c.1274G>A
NM_001407919.1:c.1364G>A
NM_001407920.1:c.1223G>A
NM_001407921.1:c.1223G>A
NM_001407922.1:c.1223G>A
NM_001407923.1:c.1223G>A
NM_001407924.1:c.1223G>A
NM_001407925.1:c.1223G>A
NM_001407926.1:c.1223G>A
NM_001407927.1:c.1223G>A
NM_001407928.1:c.1223G>A
NM_001407929.1:c.1223G>A
NM_001407930.1:c.1220G>A
NM_001407931.1:c.1220G>A
NM_001407932.1:c.1220G>A
NM_001407933.1:c.1223G>A
NM_001407934.1:c.1220G>A
NM_001407935.1:c.1223G>A
NM_001407936.1:c.1220G>A
NM_001407937.1:c.1364G>A
NM_001407938.1:c.1364G>A
NM_001407939.1:c.1364G>A
NM_001407940.1:c.1361G>A
NM_001407941.1:c.1361G>A
NM_001407942.1:c.1346G>A
NM_001407943.1:c.1343G>A
NM_001407944.1:c.1346G>A
NM_001407945.1:c.1346G>A
NM_001407946.1:c.1154G>A
NM_001407947.1:c.1154G>A
NM_001407948.1:c.1154G>A
NM_001407949.1:c.1154G>A
NM_001407950.1:c.1154G>A
NM_001407951.1:c.1154G>A
NM_001407952.1:c.1154G>A
NM_001407953.1:c.1154G>A
NM_001407954.1:c.1151G>A
NM_001407955.1:c.1151G>A
NM_001407956.1:c.1151G>A
NM_001407957.1:c.1154G>A
NM_001407958.1:c.1151G>A
NM_001407959.1:c.1106G>A
NM_001407960.1:c.1106G>A
NM_001407962.1:c.1103G>A
NM_001407963.1:c.1106G>A
NM_001407964.1:c.1343G>A
NM_001407965.1:c.983G>A
NM_001407966.1:c.599G>A
NM_001407967.1:c.599G>A
NM_001407968.1:c.787+700G>A
NM_001407969.1:c.787+700G>A
NM_001407970.1:c.787+700G>A
NM_001407971.1:c.787+700G>A
NM_001407972.1:c.784+700G>A
NM_001407973.1:c.787+700G>A
NM_001407974.1:c.787+700G>A
NM_001407975.1:c.787+700G>A
NM_001407976.1:c.787+700G>A
NM_001407977.1:c.787+700G>A
NM_001407978.1:c.787+700G>A
NM_001407979.1:c.787+700G>A
NM_001407980.1:c.787+700G>A
NM_001407981.1:c.787+700G>A
NM_001407982.1:c.787+700G>A
NM_001407983.1:c.787+700G>A
NM_001407984.1:c.784+700G>A
NM_001407985.1:c.784+700G>A
NM_001407986.1:c.784+700G>A
NM_001407990.1:c.787+700G>A
NM_001407991.1:c.784+700G>A
NM_001407992.1:c.784+700G>A
NM_001407993.1:c.787+700G>A
NM_001408392.1:c.784+700G>A
NM_001408396.1:c.784+700G>A
NM_001408397.1:c.784+700G>A
NM_001408398.1:c.784+700G>A
NM_001408399.1:c.784+700G>A
NM_001408400.1:c.784+700G>A
NM_001408401.1:c.784+700G>A
NM_001408402.1:c.784+700G>A
NM_001408403.1:c.787+700G>A
NM_001408404.1:c.787+700G>A
NM_001408406.1:c.790+697G>A
NM_001408407.1:c.784+700G>A
NM_001408408.1:c.778+700G>A
NM_001408409.1:c.709+700G>A
NM_001408410.1:c.646+700G>A
NM_001408411.1:c.709+700G>A
NM_001408412.1:c.709+700G>A
NM_001408413.1:c.706+700G>A
NM_001408414.1:c.709+700G>A
NM_001408415.1:c.709+700G>A
NM_001408416.1:c.706+700G>A
NM_001408418.1:c.670+1802G>A
NM_001408419.1:c.670+1802G>A
NM_001408420.1:c.670+1802G>A
NM_001408421.1:c.667+1802G>A
NM_001408422.1:c.670+1802G>A
NM_001408423.1:c.670+1802G>A
NM_001408424.1:c.667+1802G>A
NM_001408425.1:c.664+700G>A
NM_001408426.1:c.664+700G>A
NM_001408427.1:c.664+700G>A
NM_001408428.1:c.664+700G>A
NM_001408429.1:c.664+700G>A
NM_001408430.1:c.664+700G>A
NM_001408431.1:c.667+1802G>A
NM_001408432.1:c.661+700G>A
NM_001408433.1:c.661+700G>A
NM_001408434.1:c.661+700G>A
NM_001408435.1:c.661+700G>A
NM_001408436.1:c.664+700G>A
NM_001408437.1:c.664+700G>A
NM_001408438.1:c.664+700G>A
NM_001408439.1:c.664+700G>A
NM_001408440.1:c.664+700G>A
NM_001408441.1:c.664+700G>A
NM_001408442.1:c.664+700G>A
NM_001408443.1:c.664+700G>A
NM_001408444.1:c.664+700G>A
NM_001408445.1:c.661+700G>A
NM_001408446.1:c.661+700G>A
NM_001408447.1:c.661+700G>A
NM_001408448.1:c.661+700G>A
NM_001408450.1:c.661+700G>A
NM_001408451.1:c.652+700G>A
NM_001408452.1:c.646+700G>A
NM_001408453.1:c.646+700G>A
NM_001408454.1:c.646+700G>A
NM_001408455.1:c.646+700G>A
NM_001408456.1:c.646+700G>A
NM_001408457.1:c.646+700G>A
NM_001408458.1:c.646+700G>A
NM_001408459.1:c.646+700G>A
NM_001408460.1:c.646+700G>A
NM_001408461.1:c.646+700G>A
NM_001408462.1:c.643+700G>A
NM_001408463.1:c.643+700G>A
NM_001408464.1:c.643+700G>A
NM_001408465.1:c.643+700G>A
NM_001408466.1:c.646+700G>A
NM_001408467.1:c.646+700G>A
NM_001408468.1:c.643+700G>A
NM_001408469.1:c.646+700G>A
NM_001408470.1:c.643+700G>A
NM_001408472.1:c.787+700G>A
NM_001408473.1:c.784+700G>A
NM_001408474.1:c.586+700G>A
NM_001408475.1:c.583+700G>A
NM_001408476.1:c.586+700G>A
NM_001408478.1:c.577+700G>A
NM_001408479.1:c.577+700G>A
NM_001408480.1:c.577+700G>A
NM_001408481.1:c.577+700G>A
NM_001408482.1:c.577+700G>A
NM_001408483.1:c.577+700G>A
NM_001408484.1:c.577+700G>A
NM_001408485.1:c.577+700G>A
NM_001408489.1:c.577+700G>A
NM_001408490.1:c.574+700G>A
NM_001408491.1:c.574+700G>A
NM_001408492.1:c.577+700G>A
NM_001408493.1:c.574+700G>A
NM_001408494.1:c.548-3012G>A
NM_001408495.1:c.545-3012G>A
NM_001408496.1:c.523+700G>A
NM_001408497.1:c.523+700G>A
NM_001408498.1:c.523+700G>A
NM_001408499.1:c.523+700G>A
NM_001408500.1:c.523+700G>A
NM_001408501.1:c.523+700G>A
NM_001408502.1:c.454+700G>A
NM_001408503.1:c.520+700G>A
NM_001408504.1:c.520+700G>A
NM_001408505.1:c.520+700G>A
NM_001408506.1:c.460+1802G>A
NM_001408507.1:c.460+1802G>A
NM_001408508.1:c.451+700G>A
NM_001408509.1:c.451+700G>A
NM_001408510.1:c.406+700G>A
NM_001408511.1:c.404-3012G>A
NM_001408512.1:c.283+700G>A
NM_001408513.1:c.577+700G>A
NM_001408514.1:c.577+700G>A
NM_007294.4:c.1487G>AMANE SELECT
NM_007297.4:c.1346G>A
NM_007298.4:c.787+700G>A
NM_007299.4:c.787+700G>A
NM_007300.4:c.1487G>A
NP_001394500.1:p.Arg425His
NP_001394510.1:p.Arg496His
NP_001394511.1:p.Arg496His
NP_001394512.1:p.Arg496His
NP_001394514.1:p.Arg496His
NP_001394516.1:p.Arg495His
NP_001394519.1:p.Arg495His
NP_001394520.1:p.Arg495His
NP_001394522.1:p.Arg496His
NP_001394523.1:p.Arg496His
NP_001394525.1:p.Arg496His
NP_001394526.1:p.Arg496His
NP_001394527.1:p.Arg496His
NP_001394531.1:p.Arg496His
NP_001394532.1:p.Arg496His
NP_001394534.1:p.Arg496His
NP_001394539.1:p.Arg495His
NP_001394540.1:p.Arg495His
NP_001394541.1:p.Arg495His
NP_001394542.1:p.Arg495His
NP_001394543.1:p.Arg495His
NP_001394544.1:p.Arg495His
NP_001394545.1:p.Arg496His
NP_001394546.1:p.Arg496His
NP_001394547.1:p.Arg496His
NP_001394548.1:p.Arg496His
NP_001394549.1:p.Arg496His
NP_001394550.1:p.Arg496His
NP_001394551.1:p.Arg496His
NP_001394552.1:p.Arg496His
NP_001394553.1:p.Arg496His
NP_001394554.1:p.Arg496His
NP_001394555.1:p.Arg496His
NP_001394556.1:p.Arg495His
NP_001394557.1:p.Arg495His
NP_001394558.1:p.Arg495His
NP_001394559.1:p.Arg495His
NP_001394560.1:p.Arg495His
NP_001394561.1:p.Arg495His
NP_001394562.1:p.Arg495His
NP_001394563.1:p.Arg495His
NP_001394564.1:p.Arg495His
NP_001394565.1:p.Arg495His
NP_001394566.1:p.Arg495His
NP_001394567.1:p.Arg495His
NP_001394568.1:p.Arg496His
NP_001394569.1:p.Arg496His
NP_001394570.1:p.Arg496His
NP_001394571.1:p.Arg496His
NP_001394573.1:p.Arg495His
NP_001394574.1:p.Arg495His
NP_001394575.1:p.Arg493His
NP_001394576.1:p.Arg493His
NP_001394577.1:p.Arg455His
NP_001394578.1:p.Arg454His
NP_001394581.1:p.Arg496His
NP_001394582.1:p.Arg470His
NP_001394583.1:p.Arg470His
NP_001394584.1:p.Arg470His
NP_001394585.1:p.Arg470His
NP_001394586.1:p.Arg470His
NP_001394587.1:p.Arg470His
NP_001394588.1:p.Arg469His
NP_001394589.1:p.Arg469His
NP_001394590.1:p.Arg469His
NP_001394591.1:p.Arg469His
NP_001394592.1:p.Arg470His
NP_001394593.1:p.Arg455His
NP_001394594.1:p.Arg455His
NP_001394595.1:p.Arg455His
NP_001394596.1:p.Arg455His
NP_001394597.1:p.Arg455His
NP_001394598.1:p.Arg455His
NP_001394599.1:p.Arg454His
NP_001394600.1:p.Arg454His
NP_001394601.1:p.Arg454His
NP_001394602.1:p.Arg454His
NP_001394603.1:p.Arg455His
NP_001394604.1:p.Arg455His
NP_001394605.1:p.Arg455His
NP_001394606.1:p.Arg455His
NP_001394607.1:p.Arg455His
NP_001394608.1:p.Arg455His
NP_001394609.1:p.Arg455His
NP_001394610.1:p.Arg455His
NP_001394611.1:p.Arg455His
NP_001394612.1:p.Arg455His
NP_001394613.1:p.Arg496His
NP_001394614.1:p.Arg454His
NP_001394615.1:p.Arg454His
NP_001394616.1:p.Arg454His
NP_001394617.1:p.Arg454His
NP_001394618.1:p.Arg454His
NP_001394619.1:p.Arg454His
NP_001394620.1:p.Arg454His
NP_001394621.1:p.Arg449His
NP_001394623.1:p.Arg449His
NP_001394624.1:p.Arg449His
NP_001394625.1:p.Arg449His
NP_001394626.1:p.Arg449His
NP_001394627.1:p.Arg449His
NP_001394653.1:p.Arg449His
NP_001394654.1:p.Arg449His
NP_001394655.1:p.Arg449His
NP_001394656.1:p.Arg449His
NP_001394657.1:p.Arg449His
NP_001394658.1:p.Arg449His
NP_001394659.1:p.Arg449His
NP_001394660.1:p.Arg449His
NP_001394661.1:p.Arg449His
NP_001394662.1:p.Arg449His
NP_001394663.1:p.Arg449His
NP_001394664.1:p.Arg449His
NP_001394665.1:p.Arg449His
NP_001394666.1:p.Arg449His
NP_001394667.1:p.Arg449His
NP_001394668.1:p.Arg449His
NP_001394669.1:p.Arg448His
NP_001394670.1:p.Arg448His
NP_001394671.1:p.Arg448His
NP_001394672.1:p.Arg448His
NP_001394673.1:p.Arg448His
NP_001394674.1:p.Arg448His
NP_001394675.1:p.Arg448His
NP_001394676.1:p.Arg448His
NP_001394677.1:p.Arg448His
NP_001394678.1:p.Arg448His
NP_001394679.1:p.Arg449His
NP_001394680.1:p.Arg449His
NP_001394681.1:p.Arg449His
NP_001394767.1:p.Arg448His
NP_001394768.1:p.Arg448His
NP_001394770.1:p.Arg448His
NP_001394771.1:p.Arg448His
NP_001394772.1:p.Arg448His
NP_001394773.1:p.Arg448His
NP_001394774.1:p.Arg448His
NP_001394775.1:p.Arg448His
NP_001394776.1:p.Arg448His
NP_001394777.1:p.Arg448His
NP_001394778.1:p.Arg448His
NP_001394779.1:p.Arg449His
NP_001394780.1:p.Arg449His
NP_001394781.1:p.Arg449His
NP_001394782.1:p.Arg425His
NP_001394783.1:p.Arg496His
NP_001394787.1:p.Arg496His
NP_001394788.1:p.Arg496His
NP_001394789.1:p.Arg495His
NP_001394790.1:p.Arg495His
NP_001394791.1:p.Arg429His
NP_001394792.1:p.Arg455His
NP_001394803.1:p.Arg428His
NP_001394804.1:p.Arg428His
NP_001394808.1:p.Arg426His
NP_001394810.1:p.Arg426His
NP_001394811.1:p.Arg426His
NP_001394813.1:p.Arg426His
NP_001394814.1:p.Arg426His
NP_001394815.1:p.Arg426His
NP_001394816.1:p.Arg426His
NP_001394818.1:p.Arg426His
NP_001394823.1:p.Arg425His
NP_001394824.1:p.Arg425His
NP_001394825.1:p.Arg425His
NP_001394826.1:p.Arg425His
NP_001394827.1:p.Arg425His
NP_001394828.1:p.Arg425His
NP_001394829.1:p.Arg426His
NP_001394831.1:p.Arg426His
NP_001394833.1:p.Arg426His
NP_001394835.1:p.Arg426His
NP_001394836.1:p.Arg426His
NP_001394837.1:p.Arg426His
NP_001394838.1:p.Arg426His
NP_001394839.1:p.Arg426His
NP_001394844.1:p.Arg425His
NP_001394845.1:p.Arg425His
NP_001394846.1:p.Arg425His
NP_001394847.1:p.Arg425His
NP_001394848.1:p.Arg455His
NP_001394849.1:p.Arg408His
NP_001394850.1:p.Arg408His
NP_001394851.1:p.Arg408His
NP_001394852.1:p.Arg408His
NP_001394853.1:p.Arg408His
NP_001394854.1:p.Arg408His
NP_001394855.1:p.Arg408His
NP_001394856.1:p.Arg408His
NP_001394857.1:p.Arg408His
NP_001394858.1:p.Arg408His
NP_001394859.1:p.Arg407His
NP_001394860.1:p.Arg407His
NP_001394861.1:p.Arg407His
NP_001394862.1:p.Arg408His
NP_001394863.1:p.Arg407His
NP_001394864.1:p.Arg408His
NP_001394865.1:p.Arg407His
NP_001394866.1:p.Arg455His
NP_001394867.1:p.Arg455His
NP_001394868.1:p.Arg455His
NP_001394869.1:p.Arg454His
NP_001394870.1:p.Arg454His
NP_001394871.1:p.Arg449His
NP_001394872.1:p.Arg448His
NP_001394873.1:p.Arg449His
NP_001394874.1:p.Arg449His
NP_001394875.1:p.Arg385His
NP_001394876.1:p.Arg385His
NP_001394877.1:p.Arg385His
NP_001394878.1:p.Arg385His
NP_001394879.1:p.Arg385His
NP_001394880.1:p.Arg385His
NP_001394881.1:p.Arg385His
NP_001394882.1:p.Arg385His
NP_001394883.1:p.Arg384His
NP_001394884.1:p.Arg384His
NP_001394885.1:p.Arg384His
NP_001394886.1:p.Arg385His
NP_001394887.1:p.Arg384His
NP_001394888.1:p.Arg369His
NP_001394889.1:p.Arg369His
NP_001394891.1:p.Arg368His
NP_001394892.1:p.Arg369His
NP_001394893.1:p.Arg448His
NP_001394894.1:p.Arg328His
NP_001394895.1:p.Arg200His
NP_001394896.1:p.Arg200His
NP_009225.1:p.Arg496His
NP_009225.1:p.Arg496His
NP_009228.2:p.Arg449His
NP_009231.2:p.Arg496His
LRG_292t1:c.1487G>A
LRG_292:g.123940G>A
LRG_292p1:p.Arg496His
NC_000017.10:g.41246061C>T
NM_007294.2:c.1487G>A
NM_007294.3:c.1487G>A
NM_007294.4:c.1487G>A
NM_007299.3:c.787+700G>A
NM_007300.3:c.1487G>A
NR_027676.1:n.1623G>A
U14680.1:n.1606G>A
p.R496H

Protein change:

R200H

Links:

BRCA1-HCI: BRCA1_00018; dbSNP: rs28897677

NCBI 1000 Genomes Browser:

rs28897677

Molecular consequence:

NM_001407968.1:c.787+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.787+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.787+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.787+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.784+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.787+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.787+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.787+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.787+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.787+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.787+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.787+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.787+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.787+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.787+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.787+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.784+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.784+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.784+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.787+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.784+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.784+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.787+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.784+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.784+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.784+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.784+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.784+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.784+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.784+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.784+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.787+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.787+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.790+697G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.784+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.778+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.709+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.646+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.709+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.709+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.706+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.709+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.709+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.706+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.670+1802G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.670+1802G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.670+1802G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.667+1802G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.670+1802G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.670+1802G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.667+1802G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.664+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.664+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.664+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.664+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.664+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.664+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.667+1802G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.661+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.661+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.661+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.661+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.664+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.664+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.664+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.664+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.664+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.664+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.664+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.664+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.664+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.661+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.661+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.661+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.661+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.661+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.652+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.646+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.646+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.646+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.646+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.646+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.646+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.646+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.646+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.646+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.646+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.643+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.643+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.643+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.643+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.646+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.646+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.643+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.646+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.643+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.787+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.784+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.586+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.583+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.586+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.577+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.577+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.577+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.577+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.577+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.577+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.577+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.577+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.577+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.574+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.574+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.577+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.574+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-3012G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-3012G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.523+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.523+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.523+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.523+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.523+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.523+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.454+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.520+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.520+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.520+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.460+1802G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.460+1802G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.451+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.451+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.406+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-3012G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.283+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.577+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.577+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.787+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.787+700G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.1478G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.1478G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.1364G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.1361G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.1409G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.1409G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.1409G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.1409G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.1409G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.1409G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.1406G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.1406G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.1406G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.1406G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.1409G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.1364G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.1364G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.1364G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.1364G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.1364G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.1364G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.1361G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.1361G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.1361G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.1361G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.1364G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.1364G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.1364G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.1364G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.1364G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.1364G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.1364G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.1364G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.1364G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.1364G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.1361G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.1361G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.1361G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.1361G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.1361G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.1361G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.1361G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.1484G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.1286G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.1364G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.1283G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.1283G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.1277G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.1277G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.1277G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.1277G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.1277G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.1277G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.1277G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.1277G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.1277G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.1277G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.1277G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.1277G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.1277G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.1277G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.1277G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.1277G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.1274G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.1364G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.1223G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.1223G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.1223G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.1223G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.1223G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.1223G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.1223G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.1223G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.1223G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.1223G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.1220G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.1220G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.1220G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.1223G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.1220G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.1223G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.1220G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.1364G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.1364G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.1364G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.1361G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.1361G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.1154G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.1154G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.1154G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.1154G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.1154G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.1154G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.1154G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.1154G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.1151G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.1151G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.1151G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.1154G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.1151G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.1106G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.1106G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.1103G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.1106G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407964.1:c.1343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.983G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.599G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.599G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.1346G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.1487G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000084438	ITMI	no classification provided	not provided	germline	reference population	PubMed (1) [See all records that cite this PMID]
SCV000167242	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Dec 12, 2013)	germline	clinical testing	Citation Link,
SCV000538438	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Mar 29, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000593685	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Mar 29, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001905721	Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing
SCV001926393	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing
SCV001955904	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing
SCV001970056	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing
SCV002036615	Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing
SCV002551035	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Aug 15, 2023)	germline	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	no	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
African	germline	unknown	not provided	not provided	not provided	43	not provided	reference population
African_European	germline	unknown	not provided	not provided	not provided	46	not provided	reference population
Central_Asian	germline	unknown	not provided	not provided	not provided	50	not provided	reference population
East_Asian	germline	unknown	not provided	not provided	not provided	62	not provided	reference population
European	germline	unknown	not provided	not provided	not provided	331	not provided	reference population
Hispanic	germline	unknown	not provided	not provided	not provided	118	not provided	reference population
Whole_cohort	germline	unknown	not provided	not provided	not provided	681	not provided	reference population

Citations

PubMed

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL, McCutcheon JN, Kothiyal P, Huddleston KC, Iyer RK, Vockley JG, Niederhuber JE.

PLoS One. 2014;9(4):e94554. doi: 10.1371/journal.pone.0094554.

PubMed [citation]

PMID:: 24728327
PMCID:: PMC3984285

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

See all PubMed Citations (3)

Details of each submission

From ITMI, SCV000084438.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	African	not provided	not provided	not provided	reference population	PubMed (1)
2	African_European	not provided	not provided	not provided	reference population	PubMed (1)
3	Central_Asian	not provided	not provided	not provided	reference population	PubMed (1)
4	East_Asian	not provided	not provided	not provided	reference population	PubMed (1)
5	European	not provided	not provided	not provided	reference population	PubMed (1)
6	Hispanic	not provided	not provided	not provided	reference population	PubMed (1)
7	Whole_cohort	not provided	not provided	not provided	reference population	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	43	not provided	discovery		not provided	0	not provided	not provided
2	germline	unknown	46	not provided	discovery		not provided	0	not provided	not provided
3	germline	unknown	50	not provided	discovery		not provided	0	not provided	not provided
4	germline	unknown	62	not provided	discovery		not provided	0	not provided	not provided
5	germline	unknown	331	not provided	discovery		not provided	0.003	not provided	not provided
6	germline	unknown	118	not provided	discovery		not provided	0	not provided	not provided
7	germline	unknown	681	not provided	discovery		not provided	0.0015	not provided	not provided

From GeneDx, SCV000167242.11

#	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 considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	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 Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000538438.1

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

Description

Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC: 0.1% (51/66708) European; ClinVar: 5 B/LB, 3 VUS

#	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 Genetic Services Laboratory, University of Chicago, SCV000593685.1

#	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	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute - VKGL Data-share Consensus, SCV001905721.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001926393.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001955904.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001970056.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV002036615.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV002551035.4

#	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: Dec 22, 2024

Relating variation to medicine