NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (5 submissions)
Last evaluated:: Jan 11, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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

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

Record status:: current
Accession:: RCV000048576.37

Allele description [Variation Report for NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)]

NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)

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.4484G>T (p.Arg1495Met)

Other names:

p.R1495M:AGG>ATG

HGVS:

NC_000017.11:g.43076488C>A
NG_005905.2:g.141496G>T
NM_001407571.1:c.4271G>T
NM_001407581.1:c.4550G>T
NM_001407582.1:c.4550G>T
NM_001407583.1:c.4547G>T
NM_001407585.1:c.4547G>T
NM_001407587.1:c.4547G>T
NM_001407590.1:c.4544G>T
NM_001407591.1:c.4544G>T
NM_001407593.1:c.4484G>T
NM_001407594.1:c.4484G>T
NM_001407596.1:c.4484G>T
NM_001407597.1:c.4484G>T
NM_001407598.1:c.4484G>T
NM_001407602.1:c.4484G>T
NM_001407603.1:c.4484G>T
NM_001407605.1:c.4484G>T
NM_001407610.1:c.4481G>T
NM_001407611.1:c.4481G>T
NM_001407612.1:c.4481G>T
NM_001407613.1:c.4481G>T
NM_001407614.1:c.4481G>T
NM_001407615.1:c.4481G>T
NM_001407616.1:c.4481G>T
NM_001407617.1:c.4481G>T
NM_001407618.1:c.4481G>T
NM_001407619.1:c.4481G>T
NM_001407620.1:c.4481G>T
NM_001407621.1:c.4481G>T
NM_001407622.1:c.4481G>T
NM_001407623.1:c.4481G>T
NM_001407624.1:c.4481G>T
NM_001407625.1:c.4481G>T
NM_001407626.1:c.4481G>T
NM_001407627.1:c.4478G>T
NM_001407628.1:c.4478G>T
NM_001407629.1:c.4478G>T
NM_001407630.1:c.4478G>T
NM_001407631.1:c.4478G>T
NM_001407632.1:c.4478G>T
NM_001407633.1:c.4478G>T
NM_001407634.1:c.4478G>T
NM_001407635.1:c.4478G>T
NM_001407636.1:c.4478G>T
NM_001407637.1:c.4478G>T
NM_001407638.1:c.4478G>T
NM_001407639.1:c.4478G>T
NM_001407640.1:c.4478G>T
NM_001407641.1:c.4478G>T
NM_001407642.1:c.4478G>T
NM_001407644.1:c.4475G>T
NM_001407645.1:c.4475G>T
NM_001407646.1:c.4472G>T
NM_001407647.1:c.4469G>T
NM_001407648.1:c.4427G>T
NM_001407649.1:c.4424G>T
NM_001407652.1:c.4484G>T
NM_001407653.1:c.4406G>T
NM_001407654.1:c.4406G>T
NM_001407655.1:c.4406G>T
NM_001407656.1:c.4403G>T
NM_001407657.1:c.4403G>T
NM_001407658.1:c.4403G>T
NM_001407659.1:c.4400G>T
NM_001407660.1:c.4400G>T
NM_001407661.1:c.4400G>T
NM_001407662.1:c.4400G>T
NM_001407663.1:c.4400G>T
NM_001407664.1:c.4361G>T
NM_001407665.1:c.4361G>T
NM_001407666.1:c.4361G>T
NM_001407667.1:c.4361G>T
NM_001407668.1:c.4361G>T
NM_001407669.1:c.4361G>T
NM_001407670.1:c.4358G>T
NM_001407671.1:c.4358G>T
NM_001407672.1:c.4358G>T
NM_001407673.1:c.4358G>T
NM_001407674.1:c.4358G>T
NM_001407675.1:c.4358G>T
NM_001407676.1:c.4358G>T
NM_001407677.1:c.4358G>T
NM_001407678.1:c.4358G>T
NM_001407679.1:c.4358G>T
NM_001407680.1:c.4358G>T
NM_001407681.1:c.4355G>T
NM_001407682.1:c.4355G>T
NM_001407683.1:c.4355G>T
NM_001407684.1:c.4484G>T
NM_001407685.1:c.4355G>T
NM_001407686.1:c.4355G>T
NM_001407687.1:c.4355G>T
NM_001407688.1:c.4355G>T
NM_001407689.1:c.4355G>T
NM_001407690.1:c.4352G>T
NM_001407691.1:c.4352G>T
NM_001407692.1:c.4343G>T
NM_001407694.1:c.4343G>T
NM_001407695.1:c.4343G>T
NM_001407696.1:c.4343G>T
NM_001407697.1:c.4343G>T
NM_001407698.1:c.4343G>T
NM_001407724.1:c.4343G>T
NM_001407725.1:c.4343G>T
NM_001407726.1:c.4343G>T
NM_001407727.1:c.4343G>T
NM_001407728.1:c.4343G>T
NM_001407729.1:c.4343G>T
NM_001407730.1:c.4343G>T
NM_001407731.1:c.4343G>T
NM_001407732.1:c.4340G>T
NM_001407733.1:c.4340G>T
NM_001407734.1:c.4340G>T
NM_001407735.1:c.4340G>T
NM_001407736.1:c.4340G>T
NM_001407737.1:c.4340G>T
NM_001407738.1:c.4340G>T
NM_001407739.1:c.4340G>T
NM_001407740.1:c.4340G>T
NM_001407741.1:c.4340G>T
NM_001407742.1:c.4340G>T
NM_001407743.1:c.4340G>T
NM_001407744.1:c.4340G>T
NM_001407745.1:c.4340G>T
NM_001407746.1:c.4340G>T
NM_001407747.1:c.4340G>T
NM_001407748.1:c.4340G>T
NM_001407749.1:c.4340G>T
NM_001407750.1:c.4340G>T
NM_001407751.1:c.4340G>T
NM_001407752.1:c.4340G>T
NM_001407838.1:c.4337G>T
NM_001407839.1:c.4337G>T
NM_001407841.1:c.4337G>T
NM_001407842.1:c.4337G>T
NM_001407843.1:c.4337G>T
NM_001407844.1:c.4337G>T
NM_001407845.1:c.4337G>T
NM_001407846.1:c.4337G>T
NM_001407847.1:c.4337G>T
NM_001407848.1:c.4337G>T
NM_001407849.1:c.4337G>T
NM_001407850.1:c.4337G>T
NM_001407851.1:c.4337G>T
NM_001407852.1:c.4337G>T
NM_001407853.1:c.4337G>T
NM_001407854.1:c.4484G>T
NM_001407858.1:c.4481G>T
NM_001407859.1:c.4481G>T
NM_001407860.1:c.4481G>T
NM_001407861.1:c.4478G>T
NM_001407862.1:c.4283G>T
NM_001407863.1:c.4358G>T
NM_001407874.1:c.4277G>T
NM_001407875.1:c.4277G>T
NM_001407879.1:c.4274G>T
NM_001407881.1:c.4274G>T
NM_001407882.1:c.4274G>T
NM_001407884.1:c.4274G>T
NM_001407885.1:c.4274G>T
NM_001407886.1:c.4274G>T
NM_001407887.1:c.4274G>T
NM_001407889.1:c.4274G>T
NM_001407894.1:c.4271G>T
NM_001407895.1:c.4271G>T
NM_001407896.1:c.4271G>T
NM_001407897.1:c.4271G>T
NM_001407898.1:c.4271G>T
NM_001407899.1:c.4271G>T
NM_001407900.1:c.4271G>T
NM_001407902.1:c.4271G>T
NM_001407904.1:c.4271G>T
NM_001407906.1:c.4271G>T
NM_001407907.1:c.4271G>T
NM_001407908.1:c.4271G>T
NM_001407909.1:c.4271G>T
NM_001407910.1:c.4271G>T
NM_001407915.1:c.4268G>T
NM_001407916.1:c.4268G>T
NM_001407917.1:c.4268G>T
NM_001407918.1:c.4268G>T
NM_001407919.1:c.4361G>T
NM_001407920.1:c.4220G>T
NM_001407921.1:c.4220G>T
NM_001407922.1:c.4220G>T
NM_001407923.1:c.4220G>T
NM_001407924.1:c.4220G>T
NM_001407925.1:c.4220G>T
NM_001407926.1:c.4220G>T
NM_001407927.1:c.4217G>T
NM_001407928.1:c.4217G>T
NM_001407929.1:c.4217G>T
NM_001407930.1:c.4217G>T
NM_001407931.1:c.4217G>T
NM_001407932.1:c.4217G>T
NM_001407933.1:c.4217G>T
NM_001407934.1:c.4214G>T
NM_001407935.1:c.4214G>T
NM_001407936.1:c.4214G>T
NM_001407937.1:c.4361G>T
NM_001407938.1:c.4361G>T
NM_001407939.1:c.4358G>T
NM_001407940.1:c.4358G>T
NM_001407941.1:c.4355G>T
NM_001407942.1:c.4343G>T
NM_001407943.1:c.4340G>T
NM_001407944.1:c.4340G>T
NM_001407945.1:c.4340G>T
NM_001407946.1:c.4151G>T
NM_001407947.1:c.4151G>T
NM_001407948.1:c.4151G>T
NM_001407949.1:c.4151G>T
NM_001407950.1:c.4148G>T
NM_001407951.1:c.4148G>T
NM_001407952.1:c.4148G>T
NM_001407953.1:c.4148G>T
NM_001407954.1:c.4148G>T
NM_001407955.1:c.4148G>T
NM_001407956.1:c.4145G>T
NM_001407957.1:c.4145G>T
NM_001407958.1:c.4145G>T
NM_001407959.1:c.4103G>T
NM_001407960.1:c.4100G>T
NM_001407962.1:c.4100G>T
NM_001407963.1:c.4097G>T
NM_001407965.1:c.3977G>T
NM_001407966.1:c.3596G>T
NM_001407967.1:c.3593G>T
NM_001407968.1:c.1880G>T
NM_001407969.1:c.1877G>T
NM_001407970.1:c.1241G>T
NM_001407971.1:c.1241G>T
NM_001407972.1:c.1238G>T
NM_001407973.1:c.1175G>T
NM_001407974.1:c.1175G>T
NM_001407975.1:c.1175G>T
NM_001407976.1:c.1175G>T
NM_001407977.1:c.1175G>T
NM_001407978.1:c.1175G>T
NM_001407979.1:c.1172G>T
NM_001407980.1:c.1172G>T
NM_001407981.1:c.1172G>T
NM_001407982.1:c.1172G>T
NM_001407983.1:c.1172G>T
NM_001407984.1:c.1172G>T
NM_001407985.1:c.1172G>T
NM_001407986.1:c.1172G>T
NM_001407990.1:c.1172G>T
NM_001407991.1:c.1172G>T
NM_001407992.1:c.1172G>T
NM_001407993.1:c.1172G>T
NM_001408392.1:c.1169G>T
NM_001408396.1:c.1169G>T
NM_001408397.1:c.1169G>T
NM_001408398.1:c.1169G>T
NM_001408399.1:c.1169G>T
NM_001408400.1:c.1169G>T
NM_001408401.1:c.1169G>T
NM_001408402.1:c.1169G>T
NM_001408403.1:c.1169G>T
NM_001408404.1:c.1169G>T
NM_001408406.1:c.1166G>T
NM_001408407.1:c.1166G>T
NM_001408408.1:c.1166G>T
NM_001408409.1:c.1163G>T
NM_001408410.1:c.1100G>T
NM_001408411.1:c.1097G>T
NM_001408412.1:c.1094G>T
NM_001408413.1:c.1094G>T
NM_001408414.1:c.1094G>T
NM_001408415.1:c.1094G>T
NM_001408416.1:c.1094G>T
NM_001408418.1:c.1058G>T
NM_001408419.1:c.1058G>T
NM_001408420.1:c.1058G>T
NM_001408421.1:c.1055G>T
NM_001408422.1:c.1055G>T
NM_001408423.1:c.1055G>T
NM_001408424.1:c.1055G>T
NM_001408425.1:c.1052G>T
NM_001408426.1:c.1052G>T
NM_001408427.1:c.1052G>T
NM_001408428.1:c.1052G>T
NM_001408429.1:c.1052G>T
NM_001408430.1:c.1052G>T
NM_001408431.1:c.1052G>T
NM_001408432.1:c.1049G>T
NM_001408433.1:c.1049G>T
NM_001408434.1:c.1049G>T
NM_001408435.1:c.1049G>T
NM_001408436.1:c.1049G>T
NM_001408437.1:c.1049G>T
NM_001408438.1:c.1049G>T
NM_001408439.1:c.1049G>T
NM_001408440.1:c.1049G>T
NM_001408441.1:c.1049G>T
NM_001408442.1:c.1049G>T
NM_001408443.1:c.1049G>T
NM_001408444.1:c.1049G>T
NM_001408445.1:c.1046G>T
NM_001408446.1:c.1046G>T
NM_001408447.1:c.1046G>T
NM_001408448.1:c.1046G>T
NM_001408450.1:c.1046G>T
NM_001408451.1:c.1040G>T
NM_001408452.1:c.1034G>T
NM_001408453.1:c.1034G>T
NM_001408454.1:c.1034G>T
NM_001408455.1:c.1034G>T
NM_001408456.1:c.1034G>T
NM_001408457.1:c.1034G>T
NM_001408458.1:c.1031G>T
NM_001408459.1:c.1031G>T
NM_001408460.1:c.1031G>T
NM_001408461.1:c.1031G>T
NM_001408462.1:c.1031G>T
NM_001408463.1:c.1031G>T
NM_001408464.1:c.1031G>T
NM_001408465.1:c.1031G>T
NM_001408466.1:c.1031G>T
NM_001408467.1:c.1031G>T
NM_001408468.1:c.1028G>T
NM_001408469.1:c.1028G>T
NM_001408470.1:c.1028G>T
NM_001408472.1:c.1172G>T
NM_001408473.1:c.1169G>T
NM_001408474.1:c.974G>T
NM_001408475.1:c.971G>T
NM_001408476.1:c.971G>T
NM_001408478.1:c.965G>T
NM_001408479.1:c.965G>T
NM_001408480.1:c.965G>T
NM_001408481.1:c.962G>T
NM_001408482.1:c.962G>T
NM_001408483.1:c.962G>T
NM_001408484.1:c.962G>T
NM_001408485.1:c.962G>T
NM_001408489.1:c.962G>T
NM_001408490.1:c.962G>T
NM_001408491.1:c.962G>T
NM_001408492.1:c.959G>T
NM_001408493.1:c.959G>T
NM_001408494.1:c.935G>T
NM_001408495.1:c.929G>T
NM_001408496.1:c.911G>T
NM_001408497.1:c.911G>T
NM_001408498.1:c.911G>T
NM_001408499.1:c.911G>T
NM_001408500.1:c.911G>T
NM_001408501.1:c.911G>T
NM_001408502.1:c.908G>T
NM_001408503.1:c.908G>T
NM_001408504.1:c.908G>T
NM_001408505.1:c.905G>T
NM_001408506.1:c.848G>T
NM_001408507.1:c.845G>T
NM_001408508.1:c.836G>T
NM_001408509.1:c.833G>T
NM_001408510.1:c.794G>T
NM_001408511.1:c.791G>T
NM_001408512.1:c.671G>T
NM_007294.4:c.4484G>TMANE SELECT
NM_007297.4:c.4343G>T
NM_007298.4:c.1172G>T
NM_007299.4:c.1172G>T
NM_007300.4:c.4547G>T
NM_007304.2:c.1172G>T
NP_001394500.1:p.Arg1424Met
NP_001394510.1:p.Arg1517Met
NP_001394511.1:p.Arg1517Met
NP_001394512.1:p.Arg1516Met
NP_001394514.1:p.Arg1516Met
NP_001394516.1:p.Arg1516Met
NP_001394519.1:p.Arg1515Met
NP_001394520.1:p.Arg1515Met
NP_001394522.1:p.Arg1495Met
NP_001394523.1:p.Arg1495Met
NP_001394525.1:p.Arg1495Met
NP_001394526.1:p.Arg1495Met
NP_001394527.1:p.Arg1495Met
NP_001394531.1:p.Arg1495Met
NP_001394532.1:p.Arg1495Met
NP_001394534.1:p.Arg1495Met
NP_001394539.1:p.Arg1494Met
NP_001394540.1:p.Arg1494Met
NP_001394541.1:p.Arg1494Met
NP_001394542.1:p.Arg1494Met
NP_001394543.1:p.Arg1494Met
NP_001394544.1:p.Arg1494Met
NP_001394545.1:p.Arg1494Met
NP_001394546.1:p.Arg1494Met
NP_001394547.1:p.Arg1494Met
NP_001394548.1:p.Arg1494Met
NP_001394549.1:p.Arg1494Met
NP_001394550.1:p.Arg1494Met
NP_001394551.1:p.Arg1494Met
NP_001394552.1:p.Arg1494Met
NP_001394553.1:p.Arg1494Met
NP_001394554.1:p.Arg1494Met
NP_001394555.1:p.Arg1494Met
NP_001394556.1:p.Arg1493Met
NP_001394557.1:p.Arg1493Met
NP_001394558.1:p.Arg1493Met
NP_001394559.1:p.Arg1493Met
NP_001394560.1:p.Arg1493Met
NP_001394561.1:p.Arg1493Met
NP_001394562.1:p.Arg1493Met
NP_001394563.1:p.Arg1493Met
NP_001394564.1:p.Arg1493Met
NP_001394565.1:p.Arg1493Met
NP_001394566.1:p.Arg1493Met
NP_001394567.1:p.Arg1493Met
NP_001394568.1:p.Arg1493Met
NP_001394569.1:p.Arg1493Met
NP_001394570.1:p.Arg1493Met
NP_001394571.1:p.Arg1493Met
NP_001394573.1:p.Arg1492Met
NP_001394574.1:p.Arg1492Met
NP_001394575.1:p.Arg1491Met
NP_001394576.1:p.Arg1490Met
NP_001394577.1:p.Arg1476Met
NP_001394578.1:p.Arg1475Met
NP_001394581.1:p.Arg1495Met
NP_001394582.1:p.Arg1469Met
NP_001394583.1:p.Arg1469Met
NP_001394584.1:p.Arg1469Met
NP_001394585.1:p.Arg1468Met
NP_001394586.1:p.Arg1468Met
NP_001394587.1:p.Arg1468Met
NP_001394588.1:p.Arg1467Met
NP_001394589.1:p.Arg1467Met
NP_001394590.1:p.Arg1467Met
NP_001394591.1:p.Arg1467Met
NP_001394592.1:p.Arg1467Met
NP_001394593.1:p.Arg1454Met
NP_001394594.1:p.Arg1454Met
NP_001394595.1:p.Arg1454Met
NP_001394596.1:p.Arg1454Met
NP_001394597.1:p.Arg1454Met
NP_001394598.1:p.Arg1454Met
NP_001394599.1:p.Arg1453Met
NP_001394600.1:p.Arg1453Met
NP_001394601.1:p.Arg1453Met
NP_001394602.1:p.Arg1453Met
NP_001394603.1:p.Arg1453Met
NP_001394604.1:p.Arg1453Met
NP_001394605.1:p.Arg1453Met
NP_001394606.1:p.Arg1453Met
NP_001394607.1:p.Arg1453Met
NP_001394608.1:p.Arg1453Met
NP_001394609.1:p.Arg1453Met
NP_001394610.1:p.Arg1452Met
NP_001394611.1:p.Arg1452Met
NP_001394612.1:p.Arg1452Met
NP_001394613.1:p.Arg1495Met
NP_001394614.1:p.Arg1452Met
NP_001394615.1:p.Arg1452Met
NP_001394616.1:p.Arg1452Met
NP_001394617.1:p.Arg1452Met
NP_001394618.1:p.Arg1452Met
NP_001394619.1:p.Arg1451Met
NP_001394620.1:p.Arg1451Met
NP_001394621.1:p.Arg1448Met
NP_001394623.1:p.Arg1448Met
NP_001394624.1:p.Arg1448Met
NP_001394625.1:p.Arg1448Met
NP_001394626.1:p.Arg1448Met
NP_001394627.1:p.Arg1448Met
NP_001394653.1:p.Arg1448Met
NP_001394654.1:p.Arg1448Met
NP_001394655.1:p.Arg1448Met
NP_001394656.1:p.Arg1448Met
NP_001394657.1:p.Arg1448Met
NP_001394658.1:p.Arg1448Met
NP_001394659.1:p.Arg1448Met
NP_001394660.1:p.Arg1448Met
NP_001394661.1:p.Arg1447Met
NP_001394662.1:p.Arg1447Met
NP_001394663.1:p.Arg1447Met
NP_001394664.1:p.Arg1447Met
NP_001394665.1:p.Arg1447Met
NP_001394666.1:p.Arg1447Met
NP_001394667.1:p.Arg1447Met
NP_001394668.1:p.Arg1447Met
NP_001394669.1:p.Arg1447Met
NP_001394670.1:p.Arg1447Met
NP_001394671.1:p.Arg1447Met
NP_001394672.1:p.Arg1447Met
NP_001394673.1:p.Arg1447Met
NP_001394674.1:p.Arg1447Met
NP_001394675.1:p.Arg1447Met
NP_001394676.1:p.Arg1447Met
NP_001394677.1:p.Arg1447Met
NP_001394678.1:p.Arg1447Met
NP_001394679.1:p.Arg1447Met
NP_001394680.1:p.Arg1447Met
NP_001394681.1:p.Arg1447Met
NP_001394767.1:p.Arg1446Met
NP_001394768.1:p.Arg1446Met
NP_001394770.1:p.Arg1446Met
NP_001394771.1:p.Arg1446Met
NP_001394772.1:p.Arg1446Met
NP_001394773.1:p.Arg1446Met
NP_001394774.1:p.Arg1446Met
NP_001394775.1:p.Arg1446Met
NP_001394776.1:p.Arg1446Met
NP_001394777.1:p.Arg1446Met
NP_001394778.1:p.Arg1446Met
NP_001394779.1:p.Arg1446Met
NP_001394780.1:p.Arg1446Met
NP_001394781.1:p.Arg1446Met
NP_001394782.1:p.Arg1446Met
NP_001394783.1:p.Arg1495Met
NP_001394787.1:p.Arg1494Met
NP_001394788.1:p.Arg1494Met
NP_001394789.1:p.Arg1494Met
NP_001394790.1:p.Arg1493Met
NP_001394791.1:p.Arg1428Met
NP_001394792.1:p.Arg1453Met
NP_001394803.1:p.Arg1426Met
NP_001394804.1:p.Arg1426Met
NP_001394808.1:p.Arg1425Met
NP_001394810.1:p.Arg1425Met
NP_001394811.1:p.Arg1425Met
NP_001394813.1:p.Arg1425Met
NP_001394814.1:p.Arg1425Met
NP_001394815.1:p.Arg1425Met
NP_001394816.1:p.Arg1425Met
NP_001394818.1:p.Arg1425Met
NP_001394823.1:p.Arg1424Met
NP_001394824.1:p.Arg1424Met
NP_001394825.1:p.Arg1424Met
NP_001394826.1:p.Arg1424Met
NP_001394827.1:p.Arg1424Met
NP_001394828.1:p.Arg1424Met
NP_001394829.1:p.Arg1424Met
NP_001394831.1:p.Arg1424Met
NP_001394833.1:p.Arg1424Met
NP_001394835.1:p.Arg1424Met
NP_001394836.1:p.Arg1424Met
NP_001394837.1:p.Arg1424Met
NP_001394838.1:p.Arg1424Met
NP_001394839.1:p.Arg1424Met
NP_001394844.1:p.Arg1423Met
NP_001394845.1:p.Arg1423Met
NP_001394846.1:p.Arg1423Met
NP_001394847.1:p.Arg1423Met
NP_001394848.1:p.Arg1454Met
NP_001394849.1:p.Arg1407Met
NP_001394850.1:p.Arg1407Met
NP_001394851.1:p.Arg1407Met
NP_001394852.1:p.Arg1407Met
NP_001394853.1:p.Arg1407Met
NP_001394854.1:p.Arg1407Met
NP_001394855.1:p.Arg1407Met
NP_001394856.1:p.Arg1406Met
NP_001394857.1:p.Arg1406Met
NP_001394858.1:p.Arg1406Met
NP_001394859.1:p.Arg1406Met
NP_001394860.1:p.Arg1406Met
NP_001394861.1:p.Arg1406Met
NP_001394862.1:p.Arg1406Met
NP_001394863.1:p.Arg1405Met
NP_001394864.1:p.Arg1405Met
NP_001394865.1:p.Arg1405Met
NP_001394866.1:p.Arg1454Met
NP_001394867.1:p.Arg1454Met
NP_001394868.1:p.Arg1453Met
NP_001394869.1:p.Arg1453Met
NP_001394870.1:p.Arg1452Met
NP_001394871.1:p.Arg1448Met
NP_001394872.1:p.Arg1447Met
NP_001394873.1:p.Arg1447Met
NP_001394874.1:p.Arg1447Met
NP_001394875.1:p.Arg1384Met
NP_001394876.1:p.Arg1384Met
NP_001394877.1:p.Arg1384Met
NP_001394878.1:p.Arg1384Met
NP_001394879.1:p.Arg1383Met
NP_001394880.1:p.Arg1383Met
NP_001394881.1:p.Arg1383Met
NP_001394882.1:p.Arg1383Met
NP_001394883.1:p.Arg1383Met
NP_001394884.1:p.Arg1383Met
NP_001394885.1:p.Arg1382Met
NP_001394886.1:p.Arg1382Met
NP_001394887.1:p.Arg1382Met
NP_001394888.1:p.Arg1368Met
NP_001394889.1:p.Arg1367Met
NP_001394891.1:p.Arg1367Met
NP_001394892.1:p.Arg1366Met
NP_001394894.1:p.Arg1326Met
NP_001394895.1:p.Arg1199Met
NP_001394896.1:p.Arg1198Met
NP_001394897.1:p.Arg627Met
NP_001394898.1:p.Arg626Met
NP_001394899.1:p.Arg414Met
NP_001394900.1:p.Arg414Met
NP_001394901.1:p.Arg413Met
NP_001394902.1:p.Arg392Met
NP_001394903.1:p.Arg392Met
NP_001394904.1:p.Arg392Met
NP_001394905.1:p.Arg392Met
NP_001394906.1:p.Arg392Met
NP_001394907.1:p.Arg392Met
NP_001394908.1:p.Arg391Met
NP_001394909.1:p.Arg391Met
NP_001394910.1:p.Arg391Met
NP_001394911.1:p.Arg391Met
NP_001394912.1:p.Arg391Met
NP_001394913.1:p.Arg391Met
NP_001394914.1:p.Arg391Met
NP_001394915.1:p.Arg391Met
NP_001394919.1:p.Arg391Met
NP_001394920.1:p.Arg391Met
NP_001394921.1:p.Arg391Met
NP_001394922.1:p.Arg391Met
NP_001395321.1:p.Arg390Met
NP_001395325.1:p.Arg390Met
NP_001395326.1:p.Arg390Met
NP_001395327.1:p.Arg390Met
NP_001395328.1:p.Arg390Met
NP_001395329.1:p.Arg390Met
NP_001395330.1:p.Arg390Met
NP_001395331.1:p.Arg390Met
NP_001395332.1:p.Arg390Met
NP_001395333.1:p.Arg390Met
NP_001395335.1:p.Arg389Met
NP_001395336.1:p.Arg389Met
NP_001395337.1:p.Arg389Met
NP_001395338.1:p.Arg388Met
NP_001395339.1:p.Arg367Met
NP_001395340.1:p.Arg366Met
NP_001395341.1:p.Arg365Met
NP_001395342.1:p.Arg365Met
NP_001395343.1:p.Arg365Met
NP_001395344.1:p.Arg365Met
NP_001395345.1:p.Arg365Met
NP_001395347.1:p.Arg353Met
NP_001395348.1:p.Arg353Met
NP_001395349.1:p.Arg353Met
NP_001395350.1:p.Arg352Met
NP_001395351.1:p.Arg352Met
NP_001395352.1:p.Arg352Met
NP_001395353.1:p.Arg352Met
NP_001395354.1:p.Arg351Met
NP_001395355.1:p.Arg351Met
NP_001395356.1:p.Arg351Met
NP_001395357.1:p.Arg351Met
NP_001395358.1:p.Arg351Met
NP_001395359.1:p.Arg351Met
NP_001395360.1:p.Arg351Met
NP_001395361.1:p.Arg350Met
NP_001395362.1:p.Arg350Met
NP_001395363.1:p.Arg350Met
NP_001395364.1:p.Arg350Met
NP_001395365.1:p.Arg350Met
NP_001395366.1:p.Arg350Met
NP_001395367.1:p.Arg350Met
NP_001395368.1:p.Arg350Met
NP_001395369.1:p.Arg350Met
NP_001395370.1:p.Arg350Met
NP_001395371.1:p.Arg350Met
NP_001395372.1:p.Arg350Met
NP_001395373.1:p.Arg350Met
NP_001395374.1:p.Arg349Met
NP_001395375.1:p.Arg349Met
NP_001395376.1:p.Arg349Met
NP_001395377.1:p.Arg349Met
NP_001395379.1:p.Arg349Met
NP_001395380.1:p.Arg347Met
NP_001395381.1:p.Arg345Met
NP_001395382.1:p.Arg345Met
NP_001395383.1:p.Arg345Met
NP_001395384.1:p.Arg345Met
NP_001395385.1:p.Arg345Met
NP_001395386.1:p.Arg345Met
NP_001395387.1:p.Arg344Met
NP_001395388.1:p.Arg344Met
NP_001395389.1:p.Arg344Met
NP_001395390.1:p.Arg344Met
NP_001395391.1:p.Arg344Met
NP_001395392.1:p.Arg344Met
NP_001395393.1:p.Arg344Met
NP_001395394.1:p.Arg344Met
NP_001395395.1:p.Arg344Met
NP_001395396.1:p.Arg344Met
NP_001395397.1:p.Arg343Met
NP_001395398.1:p.Arg343Met
NP_001395399.1:p.Arg343Met
NP_001395401.1:p.Arg391Met
NP_001395402.1:p.Arg390Met
NP_001395403.1:p.Arg325Met
NP_001395404.1:p.Arg324Met
NP_001395405.1:p.Arg324Met
NP_001395407.1:p.Arg322Met
NP_001395408.1:p.Arg322Met
NP_001395409.1:p.Arg322Met
NP_001395410.1:p.Arg321Met
NP_001395411.1:p.Arg321Met
NP_001395412.1:p.Arg321Met
NP_001395413.1:p.Arg321Met
NP_001395414.1:p.Arg321Met
NP_001395418.1:p.Arg321Met
NP_001395419.1:p.Arg321Met
NP_001395420.1:p.Arg321Met
NP_001395421.1:p.Arg320Met
NP_001395422.1:p.Arg320Met
NP_001395423.1:p.Arg312Met
NP_001395424.1:p.Arg310Met
NP_001395425.1:p.Arg304Met
NP_001395426.1:p.Arg304Met
NP_001395427.1:p.Arg304Met
NP_001395428.1:p.Arg304Met
NP_001395429.1:p.Arg304Met
NP_001395430.1:p.Arg304Met
NP_001395431.1:p.Arg303Met
NP_001395432.1:p.Arg303Met
NP_001395433.1:p.Arg303Met
NP_001395434.1:p.Arg302Met
NP_001395435.1:p.Arg283Met
NP_001395436.1:p.Arg282Met
NP_001395437.1:p.Arg279Met
NP_001395438.1:p.Arg278Met
NP_001395439.1:p.Arg265Met
NP_001395440.1:p.Arg264Met
NP_001395441.1:p.Arg224Met
NP_009225.1:p.Arg1495Met
NP_009225.1:p.Arg1495Met
NP_009228.2:p.Arg1448Met
NP_009229.2:p.Arg391Met
NP_009229.2:p.Arg391Met
NP_009230.2:p.Arg391Met
NP_009231.2:p.Arg1516Met
NP_009235.2:p.Arg391Met
LRG_292t1:c.4484G>T
LRG_292:g.141496G>T
LRG_292p1:p.Arg1495Met
NC_000017.10:g.41228505C>A
NM_007294.3:c.4484G>T
NM_007298.3:c.1172G>T
NR_027676.2:n.4661G>T
P38398:p.Arg1495Met
U14680.1:n.4603G>T
p.R1495M

Nucleotide change:

4603G>T

Protein change:

R1198M

Links:

Breast Cancer Information Core (BIC) (BRCA1): 4603&base_change=G to T; UniProtKB: P38398#VAR_063900; dbSNP: rs80357389

NCBI 1000 Genomes Browser:

rs80357389

Molecular consequence:

NM_001407571.1:c.4271G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.4550G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.4550G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.4547G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.4547G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.4547G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.4544G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.4544G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.4484G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.4484G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.4484G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.4484G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.4484G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.4484G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.4484G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.4484G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.4481G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.4481G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.4481G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.4481G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.4481G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.4481G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.4481G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.4481G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.4481G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.4481G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.4481G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.4481G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.4481G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.4481G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.4481G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.4481G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.4481G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.4478G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.4478G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.4478G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.4478G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.4478G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.4478G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.4478G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.4478G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.4478G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.4478G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.4478G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.4478G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.4478G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.4478G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.4478G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.4478G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.4475G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.4475G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.4472G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.4469G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.4427G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.4424G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.4484G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.4406G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.4406G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.4406G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.4403G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.4403G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.4403G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.4400G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.4400G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.4400G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.4400G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.4400G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.4361G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.4361G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.4361G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.4361G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.4361G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.4361G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.4358G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.4358G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.4358G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.4358G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.4358G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.4358G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.4358G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.4358G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.4358G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.4358G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.4358G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.4355G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.4355G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.4355G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.4484G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.4355G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.4355G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.4355G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.4355G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.4355G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.4352G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.4352G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.4343G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.4343G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.4343G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.4343G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.4343G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.4343G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.4343G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.4343G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.4343G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.4343G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.4343G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.4343G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.4343G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.4343G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.4340G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.4340G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.4340G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.4340G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.4340G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.4340G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.4340G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.4340G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.4340G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.4340G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.4340G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.4340G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.4340G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.4340G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.4340G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.4340G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.4340G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.4340G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.4340G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.4340G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.4340G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.4337G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.4337G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.4337G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.4337G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.4337G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.4337G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.4337G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.4337G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.4337G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.4337G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.4337G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.4337G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.4337G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.4337G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.4337G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.4484G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.4481G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.4481G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.4481G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.4478G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.4283G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.4358G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.4277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.4277G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.4274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.4274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.4274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.4274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.4274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.4274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.4274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.4274G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.4271G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.4271G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.4271G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.4271G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.4271G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.4271G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.4271G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.4271G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.4271G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.4271G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.4271G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.4271G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.4271G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.4271G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.4268G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.4268G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.4268G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.4268G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.4361G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.4220G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.4220G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.4220G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.4220G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.4220G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.4220G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.4220G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.4217G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.4217G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.4217G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.4217G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.4217G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.4217G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.4217G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.4214G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.4214G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.4214G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.4361G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.4361G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.4358G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.4358G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.4355G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.4343G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.4340G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.4340G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.4340G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.4151G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.4151G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.4151G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.4151G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.4148G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.4148G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.4148G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.4148G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.4148G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.4148G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.4145G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.4145G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.4145G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.4103G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.4100G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.4100G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.4097G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.3977G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.3596G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.3593G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407968.1:c.1880G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407969.1:c.1877G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407970.1:c.1241G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407971.1:c.1241G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407972.1:c.1238G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407973.1:c.1175G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407974.1:c.1175G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407975.1:c.1175G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407976.1:c.1175G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407977.1:c.1175G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407978.1:c.1175G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407979.1:c.1172G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407980.1:c.1172G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407981.1:c.1172G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407982.1:c.1172G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407983.1:c.1172G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407984.1:c.1172G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407985.1:c.1172G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407986.1:c.1172G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407990.1:c.1172G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407991.1:c.1172G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407992.1:c.1172G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407993.1:c.1172G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408392.1:c.1169G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408396.1:c.1169G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408397.1:c.1169G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408398.1:c.1169G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408399.1:c.1169G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408400.1:c.1169G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408401.1:c.1169G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408402.1:c.1169G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408403.1:c.1169G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408404.1:c.1169G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408406.1:c.1166G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408407.1:c.1166G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408408.1:c.1166G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408409.1:c.1163G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408410.1:c.1100G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408411.1:c.1097G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408412.1:c.1094G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408413.1:c.1094G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408414.1:c.1094G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408415.1:c.1094G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408416.1:c.1094G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408418.1:c.1058G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408419.1:c.1058G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408420.1:c.1058G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408421.1:c.1055G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408422.1:c.1055G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408423.1:c.1055G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408424.1:c.1055G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408425.1:c.1052G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408426.1:c.1052G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408427.1:c.1052G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408428.1:c.1052G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408429.1:c.1052G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408430.1:c.1052G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408431.1:c.1052G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408432.1:c.1049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408433.1:c.1049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408434.1:c.1049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408435.1:c.1049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408436.1:c.1049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408437.1:c.1049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408438.1:c.1049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408439.1:c.1049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408440.1:c.1049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408441.1:c.1049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408442.1:c.1049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408443.1:c.1049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408444.1:c.1049G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408445.1:c.1046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408446.1:c.1046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408447.1:c.1046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408448.1:c.1046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408450.1:c.1046G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408451.1:c.1040G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408452.1:c.1034G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408453.1:c.1034G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408454.1:c.1034G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408455.1:c.1034G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408456.1:c.1034G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408457.1:c.1034G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408458.1:c.1031G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408459.1:c.1031G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408460.1:c.1031G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408461.1:c.1031G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408462.1:c.1031G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408463.1:c.1031G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408464.1:c.1031G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408465.1:c.1031G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408466.1:c.1031G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408467.1:c.1031G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408468.1:c.1028G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408469.1:c.1028G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408470.1:c.1028G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408472.1:c.1172G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408473.1:c.1169G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408474.1:c.974G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408475.1:c.971G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408476.1:c.971G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408478.1:c.965G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408479.1:c.965G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408480.1:c.965G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408481.1:c.962G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408482.1:c.962G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408483.1:c.962G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408484.1:c.962G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408485.1:c.962G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408489.1:c.962G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408490.1:c.962G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408491.1:c.962G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408492.1:c.959G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408493.1:c.959G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408494.1:c.935G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408495.1:c.929G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408496.1:c.911G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408497.1:c.911G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408498.1:c.911G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408499.1:c.911G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408500.1:c.911G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408501.1:c.911G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408502.1:c.908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408503.1:c.908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408504.1:c.908G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408505.1:c.905G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408506.1:c.848G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408507.1:c.845G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408508.1:c.836G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408509.1:c.833G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408510.1:c.794G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408511.1:c.791G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408512.1:c.671G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.4484G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.4343G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007298.4:c.1172G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007299.4:c.1172G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.4547G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007304.2:c.1172G>T - missense variant - [Sequence Ontology: SO:0001583]
NR_027676.2:n.4661G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000076589	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 11, 2024)	germline	clinical testing	PubMed (10) [See all records that cite these PMIDs] 10923033, 22144684, 23096355, 17576681, 9536098, 10571952, 12915465, 21120943, 24607278, 28492532
SCV000587401	Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)	no assertion criteria provided	Pathogenic (Jan 31, 2014)	germline	research
SCV000605750	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 15, 2023)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 24607278, 22505045, 23374397, 23451180, 25741868
SCV000699152	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Pathogenic (Jul 31, 2016)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 24607278, 23096355, 21990134, 12915465, 11263928, 22476429, 22505045 LabCorp Variant Classification Summary - May 2015.docx, Citation Link,
SCV002515213	Genetics Program, Instituto Nacional de Cancer	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 1, 2021)	germline	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 36329109

Help

Summary from all submissions

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

Citations

PubMed

The breast cancer information core: database design, structure, and scope.

Szabo C, Masiello A, Ryan JF, Brody LC.

Hum Mutat. 2000;16(2):123-31.

PubMed [citation]

PMID:: 10923033

Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.

Caputo S, Benboudjema L, Sinilnikova O, Rouleau E, Béroud C, Lidereau R; French BRCA GGC Consortium..

Nucleic Acids Res. 2012 Jan;40(Database issue):D992-1002. doi: 10.1093/nar/gkr1160. Epub 2011 Dec 5.

PubMed [citation]

PMID:: 22144684
PMCID:: PMC3245050

See all PubMed Citations (18)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000076589.15

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

Description

This sequence change replaces arginine, which is basic and polar, with methionine, which is neutral and non-polar, at codon 1495 of the BRCA1 protein (p.Arg1495Met). RNA analysis indicates that this missense change induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (rs80357389, gnomAD 0.0009%). This missense change has been observed in individual(s) with breast and ovarian cancer (PMID: 10571952, 10923033, 22144684, 23096355, 24607278). It has also been observed to segregate with disease in related individuals. This variant is also known as 4603G>T and c.4547G>T. ClinVar contains an entry for this variant (Variation ID: 37598). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant¬†is likely to be tolerated. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this missense change results in skipping of exon 13 and introduces a premature termination codon (PMID: 10571952, 12915465, 21120943, 24607278; Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.

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

From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587401.1

#	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	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, SCV000605750.4

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

Description

The p.Arg1495Met variant in BRCA1 has been reported in more than 30 individuals with hereditary breast and ovarian cancer (HBOC) and segregated with disease in at least 4 affected relatives from 2 families (Santos 2014 PMID: 24607278, Ripamonti 2013 PMID: 23374397, Breast Cancer Information Core (BIC) database). This variant has also been reported by other clinical laboratories in ClinVar (Variation ID 37598) and has been identified in 0.0009% (1/113592) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org); however, this frequency is low enough to be consistent with the frequency of HBOC in the general population. This variant is located in the last three bases of the exon, which is part of the 5’ splice region and several in vitro functional studies using patient RNA and minigene splicing assays have shown that the p.Arg1495Met causes skipping of exon 13 (Colombo 2013 PMID: 23451180, Santos 2014 PMID: 24607278, Houdayer 2012 PMID: 22505045), leading to resulting in a frameshift and resulting in a premature termination codon. In addition, additional variants involving this codon (p.Arg1495Thr and p.Arg1495Lys) have been identified in several individuals with HBOC and are classified as pathogenic in ClinVar by the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) and several clinical laboratories, respectively. In summary, the p.Arg1495Met variant meets criteria to be classified as pathogenic for autosomal dominant HBOC. ACMG/AMP Criteria applied: PS4, PM2_Supporting, PM5, PP1, PS3_Moderate.

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699152.1

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

Description

Variant summary: The BRCA1 c.4484G>T (p.Arg1495Met) variant causes a missense change involving a conserved nucleotide, located at the most 3' position, i.e., the last nucleotide of exon 13. It is predicted to disrupt the natural splice donor site and cause abnormal splicing. 5/5 splicing prediction tools, predict alterations to splicing, consistent with the observed functional studies that implicate an affect on splicing. The variant of interest was observed in a large, broad control population, ExAC, with an allele frequency of 1/121358, which does not exceed the estimated maximal expected allele frequency for a pathogenic BRCA1 variant of 1/1000. The variant of interest has been reported in multiple affected individuals via publications, along with multiple reputable databases/clinical laboratories citing the variant as "pathogenic." Therefore, taking all available lines of evidence into consideration, the variant of interest has been classified as Pathogenic.

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

From Genetics Program, Instituto Nacional de Cancer, SCV002515213.1

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

#	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

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine