NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic/Likely pathogenic (7 submissions)
Last evaluated:: Aug 24, 2022
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:: RCV000031178.20

Allele description [Variation Report for NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys)]

NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys)

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>A (p.Arg1495Lys)

HGVS:

NC_000017.11:g.43076488C>T
NG_005905.2:g.141496G>A
NM_001407571.1:c.4271G>A
NM_001407581.1:c.4550G>A
NM_001407582.1:c.4550G>A
NM_001407583.1:c.4547G>A
NM_001407585.1:c.4547G>A
NM_001407587.1:c.4547G>A
NM_001407590.1:c.4544G>A
NM_001407591.1:c.4544G>A
NM_001407593.1:c.4484G>A
NM_001407594.1:c.4484G>A
NM_001407596.1:c.4484G>A
NM_001407597.1:c.4484G>A
NM_001407598.1:c.4484G>A
NM_001407602.1:c.4484G>A
NM_001407603.1:c.4484G>A
NM_001407605.1:c.4484G>A
NM_001407610.1:c.4481G>A
NM_001407611.1:c.4481G>A
NM_001407612.1:c.4481G>A
NM_001407613.1:c.4481G>A
NM_001407614.1:c.4481G>A
NM_001407615.1:c.4481G>A
NM_001407616.1:c.4481G>A
NM_001407617.1:c.4481G>A
NM_001407618.1:c.4481G>A
NM_001407619.1:c.4481G>A
NM_001407620.1:c.4481G>A
NM_001407621.1:c.4481G>A
NM_001407622.1:c.4481G>A
NM_001407623.1:c.4481G>A
NM_001407624.1:c.4481G>A
NM_001407625.1:c.4481G>A
NM_001407626.1:c.4481G>A
NM_001407627.1:c.4478G>A
NM_001407628.1:c.4478G>A
NM_001407629.1:c.4478G>A
NM_001407630.1:c.4478G>A
NM_001407631.1:c.4478G>A
NM_001407632.1:c.4478G>A
NM_001407633.1:c.4478G>A
NM_001407634.1:c.4478G>A
NM_001407635.1:c.4478G>A
NM_001407636.1:c.4478G>A
NM_001407637.1:c.4478G>A
NM_001407638.1:c.4478G>A
NM_001407639.1:c.4478G>A
NM_001407640.1:c.4478G>A
NM_001407641.1:c.4478G>A
NM_001407642.1:c.4478G>A
NM_001407644.1:c.4475G>A
NM_001407645.1:c.4475G>A
NM_001407646.1:c.4472G>A
NM_001407647.1:c.4469G>A
NM_001407648.1:c.4427G>A
NM_001407649.1:c.4424G>A
NM_001407652.1:c.4484G>A
NM_001407653.1:c.4406G>A
NM_001407654.1:c.4406G>A
NM_001407655.1:c.4406G>A
NM_001407656.1:c.4403G>A
NM_001407657.1:c.4403G>A
NM_001407658.1:c.4403G>A
NM_001407659.1:c.4400G>A
NM_001407660.1:c.4400G>A
NM_001407661.1:c.4400G>A
NM_001407662.1:c.4400G>A
NM_001407663.1:c.4400G>A
NM_001407664.1:c.4361G>A
NM_001407665.1:c.4361G>A
NM_001407666.1:c.4361G>A
NM_001407667.1:c.4361G>A
NM_001407668.1:c.4361G>A
NM_001407669.1:c.4361G>A
NM_001407670.1:c.4358G>A
NM_001407671.1:c.4358G>A
NM_001407672.1:c.4358G>A
NM_001407673.1:c.4358G>A
NM_001407674.1:c.4358G>A
NM_001407675.1:c.4358G>A
NM_001407676.1:c.4358G>A
NM_001407677.1:c.4358G>A
NM_001407678.1:c.4358G>A
NM_001407679.1:c.4358G>A
NM_001407680.1:c.4358G>A
NM_001407681.1:c.4355G>A
NM_001407682.1:c.4355G>A
NM_001407683.1:c.4355G>A
NM_001407684.1:c.4484G>A
NM_001407685.1:c.4355G>A
NM_001407686.1:c.4355G>A
NM_001407687.1:c.4355G>A
NM_001407688.1:c.4355G>A
NM_001407689.1:c.4355G>A
NM_001407690.1:c.4352G>A
NM_001407691.1:c.4352G>A
NM_001407692.1:c.4343G>A
NM_001407694.1:c.4343G>A
NM_001407695.1:c.4343G>A
NM_001407696.1:c.4343G>A
NM_001407697.1:c.4343G>A
NM_001407698.1:c.4343G>A
NM_001407724.1:c.4343G>A
NM_001407725.1:c.4343G>A
NM_001407726.1:c.4343G>A
NM_001407727.1:c.4343G>A
NM_001407728.1:c.4343G>A
NM_001407729.1:c.4343G>A
NM_001407730.1:c.4343G>A
NM_001407731.1:c.4343G>A
NM_001407732.1:c.4340G>A
NM_001407733.1:c.4340G>A
NM_001407734.1:c.4340G>A
NM_001407735.1:c.4340G>A
NM_001407736.1:c.4340G>A
NM_001407737.1:c.4340G>A
NM_001407738.1:c.4340G>A
NM_001407739.1:c.4340G>A
NM_001407740.1:c.4340G>A
NM_001407741.1:c.4340G>A
NM_001407742.1:c.4340G>A
NM_001407743.1:c.4340G>A
NM_001407744.1:c.4340G>A
NM_001407745.1:c.4340G>A
NM_001407746.1:c.4340G>A
NM_001407747.1:c.4340G>A
NM_001407748.1:c.4340G>A
NM_001407749.1:c.4340G>A
NM_001407750.1:c.4340G>A
NM_001407751.1:c.4340G>A
NM_001407752.1:c.4340G>A
NM_001407838.1:c.4337G>A
NM_001407839.1:c.4337G>A
NM_001407841.1:c.4337G>A
NM_001407842.1:c.4337G>A
NM_001407843.1:c.4337G>A
NM_001407844.1:c.4337G>A
NM_001407845.1:c.4337G>A
NM_001407846.1:c.4337G>A
NM_001407847.1:c.4337G>A
NM_001407848.1:c.4337G>A
NM_001407849.1:c.4337G>A
NM_001407850.1:c.4337G>A
NM_001407851.1:c.4337G>A
NM_001407852.1:c.4337G>A
NM_001407853.1:c.4337G>A
NM_001407854.1:c.4484G>A
NM_001407858.1:c.4481G>A
NM_001407859.1:c.4481G>A
NM_001407860.1:c.4481G>A
NM_001407861.1:c.4478G>A
NM_001407862.1:c.4283G>A
NM_001407863.1:c.4358G>A
NM_001407874.1:c.4277G>A
NM_001407875.1:c.4277G>A
NM_001407879.1:c.4274G>A
NM_001407881.1:c.4274G>A
NM_001407882.1:c.4274G>A
NM_001407884.1:c.4274G>A
NM_001407885.1:c.4274G>A
NM_001407886.1:c.4274G>A
NM_001407887.1:c.4274G>A
NM_001407889.1:c.4274G>A
NM_001407894.1:c.4271G>A
NM_001407895.1:c.4271G>A
NM_001407896.1:c.4271G>A
NM_001407897.1:c.4271G>A
NM_001407898.1:c.4271G>A
NM_001407899.1:c.4271G>A
NM_001407900.1:c.4271G>A
NM_001407902.1:c.4271G>A
NM_001407904.1:c.4271G>A
NM_001407906.1:c.4271G>A
NM_001407907.1:c.4271G>A
NM_001407908.1:c.4271G>A
NM_001407909.1:c.4271G>A
NM_001407910.1:c.4271G>A
NM_001407915.1:c.4268G>A
NM_001407916.1:c.4268G>A
NM_001407917.1:c.4268G>A
NM_001407918.1:c.4268G>A
NM_001407919.1:c.4361G>A
NM_001407920.1:c.4220G>A
NM_001407921.1:c.4220G>A
NM_001407922.1:c.4220G>A
NM_001407923.1:c.4220G>A
NM_001407924.1:c.4220G>A
NM_001407925.1:c.4220G>A
NM_001407926.1:c.4220G>A
NM_001407927.1:c.4217G>A
NM_001407928.1:c.4217G>A
NM_001407929.1:c.4217G>A
NM_001407930.1:c.4217G>A
NM_001407931.1:c.4217G>A
NM_001407932.1:c.4217G>A
NM_001407933.1:c.4217G>A
NM_001407934.1:c.4214G>A
NM_001407935.1:c.4214G>A
NM_001407936.1:c.4214G>A
NM_001407937.1:c.4361G>A
NM_001407938.1:c.4361G>A
NM_001407939.1:c.4358G>A
NM_001407940.1:c.4358G>A
NM_001407941.1:c.4355G>A
NM_001407942.1:c.4343G>A
NM_001407943.1:c.4340G>A
NM_001407944.1:c.4340G>A
NM_001407945.1:c.4340G>A
NM_001407946.1:c.4151G>A
NM_001407947.1:c.4151G>A
NM_001407948.1:c.4151G>A
NM_001407949.1:c.4151G>A
NM_001407950.1:c.4148G>A
NM_001407951.1:c.4148G>A
NM_001407952.1:c.4148G>A
NM_001407953.1:c.4148G>A
NM_001407954.1:c.4148G>A
NM_001407955.1:c.4148G>A
NM_001407956.1:c.4145G>A
NM_001407957.1:c.4145G>A
NM_001407958.1:c.4145G>A
NM_001407959.1:c.4103G>A
NM_001407960.1:c.4100G>A
NM_001407962.1:c.4100G>A
NM_001407963.1:c.4097G>A
NM_001407965.1:c.3977G>A
NM_001407966.1:c.3596G>A
NM_001407967.1:c.3593G>A
NM_001407968.1:c.1880G>A
NM_001407969.1:c.1877G>A
NM_001407970.1:c.1241G>A
NM_001407971.1:c.1241G>A
NM_001407972.1:c.1238G>A
NM_001407973.1:c.1175G>A
NM_001407974.1:c.1175G>A
NM_001407975.1:c.1175G>A
NM_001407976.1:c.1175G>A
NM_001407977.1:c.1175G>A
NM_001407978.1:c.1175G>A
NM_001407979.1:c.1172G>A
NM_001407980.1:c.1172G>A
NM_001407981.1:c.1172G>A
NM_001407982.1:c.1172G>A
NM_001407983.1:c.1172G>A
NM_001407984.1:c.1172G>A
NM_001407985.1:c.1172G>A
NM_001407986.1:c.1172G>A
NM_001407990.1:c.1172G>A
NM_001407991.1:c.1172G>A
NM_001407992.1:c.1172G>A
NM_001407993.1:c.1172G>A
NM_001408392.1:c.1169G>A
NM_001408396.1:c.1169G>A
NM_001408397.1:c.1169G>A
NM_001408398.1:c.1169G>A
NM_001408399.1:c.1169G>A
NM_001408400.1:c.1169G>A
NM_001408401.1:c.1169G>A
NM_001408402.1:c.1169G>A
NM_001408403.1:c.1169G>A
NM_001408404.1:c.1169G>A
NM_001408406.1:c.1166G>A
NM_001408407.1:c.1166G>A
NM_001408408.1:c.1166G>A
NM_001408409.1:c.1163G>A
NM_001408410.1:c.1100G>A
NM_001408411.1:c.1097G>A
NM_001408412.1:c.1094G>A
NM_001408413.1:c.1094G>A
NM_001408414.1:c.1094G>A
NM_001408415.1:c.1094G>A
NM_001408416.1:c.1094G>A
NM_001408418.1:c.1058G>A
NM_001408419.1:c.1058G>A
NM_001408420.1:c.1058G>A
NM_001408421.1:c.1055G>A
NM_001408422.1:c.1055G>A
NM_001408423.1:c.1055G>A
NM_001408424.1:c.1055G>A
NM_001408425.1:c.1052G>A
NM_001408426.1:c.1052G>A
NM_001408427.1:c.1052G>A
NM_001408428.1:c.1052G>A
NM_001408429.1:c.1052G>A
NM_001408430.1:c.1052G>A
NM_001408431.1:c.1052G>A
NM_001408432.1:c.1049G>A
NM_001408433.1:c.1049G>A
NM_001408434.1:c.1049G>A
NM_001408435.1:c.1049G>A
NM_001408436.1:c.1049G>A
NM_001408437.1:c.1049G>A
NM_001408438.1:c.1049G>A
NM_001408439.1:c.1049G>A
NM_001408440.1:c.1049G>A
NM_001408441.1:c.1049G>A
NM_001408442.1:c.1049G>A
NM_001408443.1:c.1049G>A
NM_001408444.1:c.1049G>A
NM_001408445.1:c.1046G>A
NM_001408446.1:c.1046G>A
NM_001408447.1:c.1046G>A
NM_001408448.1:c.1046G>A
NM_001408450.1:c.1046G>A
NM_001408451.1:c.1040G>A
NM_001408452.1:c.1034G>A
NM_001408453.1:c.1034G>A
NM_001408454.1:c.1034G>A
NM_001408455.1:c.1034G>A
NM_001408456.1:c.1034G>A
NM_001408457.1:c.1034G>A
NM_001408458.1:c.1031G>A
NM_001408459.1:c.1031G>A
NM_001408460.1:c.1031G>A
NM_001408461.1:c.1031G>A
NM_001408462.1:c.1031G>A
NM_001408463.1:c.1031G>A
NM_001408464.1:c.1031G>A
NM_001408465.1:c.1031G>A
NM_001408466.1:c.1031G>A
NM_001408467.1:c.1031G>A
NM_001408468.1:c.1028G>A
NM_001408469.1:c.1028G>A
NM_001408470.1:c.1028G>A
NM_001408472.1:c.1172G>A
NM_001408473.1:c.1169G>A
NM_001408474.1:c.974G>A
NM_001408475.1:c.971G>A
NM_001408476.1:c.971G>A
NM_001408478.1:c.965G>A
NM_001408479.1:c.965G>A
NM_001408480.1:c.965G>A
NM_001408481.1:c.962G>A
NM_001408482.1:c.962G>A
NM_001408483.1:c.962G>A
NM_001408484.1:c.962G>A
NM_001408485.1:c.962G>A
NM_001408489.1:c.962G>A
NM_001408490.1:c.962G>A
NM_001408491.1:c.962G>A
NM_001408492.1:c.959G>A
NM_001408493.1:c.959G>A
NM_001408494.1:c.935G>A
NM_001408495.1:c.929G>A
NM_001408496.1:c.911G>A
NM_001408497.1:c.911G>A
NM_001408498.1:c.911G>A
NM_001408499.1:c.911G>A
NM_001408500.1:c.911G>A
NM_001408501.1:c.911G>A
NM_001408502.1:c.908G>A
NM_001408503.1:c.908G>A
NM_001408504.1:c.908G>A
NM_001408505.1:c.905G>A
NM_001408506.1:c.848G>A
NM_001408507.1:c.845G>A
NM_001408508.1:c.836G>A
NM_001408509.1:c.833G>A
NM_001408510.1:c.794G>A
NM_001408511.1:c.791G>A
NM_001408512.1:c.671G>A
NM_007294.4:c.4484G>AMANE SELECT
NM_007297.4:c.4343G>A
NM_007298.4:c.1172G>A
NM_007299.4:c.1172G>A
NM_007300.4:c.4547G>A
NM_007304.2:c.1172G>A
NP_001394500.1:p.Arg1424Lys
NP_001394510.1:p.Arg1517Lys
NP_001394511.1:p.Arg1517Lys
NP_001394512.1:p.Arg1516Lys
NP_001394514.1:p.Arg1516Lys
NP_001394516.1:p.Arg1516Lys
NP_001394519.1:p.Arg1515Lys
NP_001394520.1:p.Arg1515Lys
NP_001394522.1:p.Arg1495Lys
NP_001394523.1:p.Arg1495Lys
NP_001394525.1:p.Arg1495Lys
NP_001394526.1:p.Arg1495Lys
NP_001394527.1:p.Arg1495Lys
NP_001394531.1:p.Arg1495Lys
NP_001394532.1:p.Arg1495Lys
NP_001394534.1:p.Arg1495Lys
NP_001394539.1:p.Arg1494Lys
NP_001394540.1:p.Arg1494Lys
NP_001394541.1:p.Arg1494Lys
NP_001394542.1:p.Arg1494Lys
NP_001394543.1:p.Arg1494Lys
NP_001394544.1:p.Arg1494Lys
NP_001394545.1:p.Arg1494Lys
NP_001394546.1:p.Arg1494Lys
NP_001394547.1:p.Arg1494Lys
NP_001394548.1:p.Arg1494Lys
NP_001394549.1:p.Arg1494Lys
NP_001394550.1:p.Arg1494Lys
NP_001394551.1:p.Arg1494Lys
NP_001394552.1:p.Arg1494Lys
NP_001394553.1:p.Arg1494Lys
NP_001394554.1:p.Arg1494Lys
NP_001394555.1:p.Arg1494Lys
NP_001394556.1:p.Arg1493Lys
NP_001394557.1:p.Arg1493Lys
NP_001394558.1:p.Arg1493Lys
NP_001394559.1:p.Arg1493Lys
NP_001394560.1:p.Arg1493Lys
NP_001394561.1:p.Arg1493Lys
NP_001394562.1:p.Arg1493Lys
NP_001394563.1:p.Arg1493Lys
NP_001394564.1:p.Arg1493Lys
NP_001394565.1:p.Arg1493Lys
NP_001394566.1:p.Arg1493Lys
NP_001394567.1:p.Arg1493Lys
NP_001394568.1:p.Arg1493Lys
NP_001394569.1:p.Arg1493Lys
NP_001394570.1:p.Arg1493Lys
NP_001394571.1:p.Arg1493Lys
NP_001394573.1:p.Arg1492Lys
NP_001394574.1:p.Arg1492Lys
NP_001394575.1:p.Arg1491Lys
NP_001394576.1:p.Arg1490Lys
NP_001394577.1:p.Arg1476Lys
NP_001394578.1:p.Arg1475Lys
NP_001394581.1:p.Arg1495Lys
NP_001394582.1:p.Arg1469Lys
NP_001394583.1:p.Arg1469Lys
NP_001394584.1:p.Arg1469Lys
NP_001394585.1:p.Arg1468Lys
NP_001394586.1:p.Arg1468Lys
NP_001394587.1:p.Arg1468Lys
NP_001394588.1:p.Arg1467Lys
NP_001394589.1:p.Arg1467Lys
NP_001394590.1:p.Arg1467Lys
NP_001394591.1:p.Arg1467Lys
NP_001394592.1:p.Arg1467Lys
NP_001394593.1:p.Arg1454Lys
NP_001394594.1:p.Arg1454Lys
NP_001394595.1:p.Arg1454Lys
NP_001394596.1:p.Arg1454Lys
NP_001394597.1:p.Arg1454Lys
NP_001394598.1:p.Arg1454Lys
NP_001394599.1:p.Arg1453Lys
NP_001394600.1:p.Arg1453Lys
NP_001394601.1:p.Arg1453Lys
NP_001394602.1:p.Arg1453Lys
NP_001394603.1:p.Arg1453Lys
NP_001394604.1:p.Arg1453Lys
NP_001394605.1:p.Arg1453Lys
NP_001394606.1:p.Arg1453Lys
NP_001394607.1:p.Arg1453Lys
NP_001394608.1:p.Arg1453Lys
NP_001394609.1:p.Arg1453Lys
NP_001394610.1:p.Arg1452Lys
NP_001394611.1:p.Arg1452Lys
NP_001394612.1:p.Arg1452Lys
NP_001394613.1:p.Arg1495Lys
NP_001394614.1:p.Arg1452Lys
NP_001394615.1:p.Arg1452Lys
NP_001394616.1:p.Arg1452Lys
NP_001394617.1:p.Arg1452Lys
NP_001394618.1:p.Arg1452Lys
NP_001394619.1:p.Arg1451Lys
NP_001394620.1:p.Arg1451Lys
NP_001394621.1:p.Arg1448Lys
NP_001394623.1:p.Arg1448Lys
NP_001394624.1:p.Arg1448Lys
NP_001394625.1:p.Arg1448Lys
NP_001394626.1:p.Arg1448Lys
NP_001394627.1:p.Arg1448Lys
NP_001394653.1:p.Arg1448Lys
NP_001394654.1:p.Arg1448Lys
NP_001394655.1:p.Arg1448Lys
NP_001394656.1:p.Arg1448Lys
NP_001394657.1:p.Arg1448Lys
NP_001394658.1:p.Arg1448Lys
NP_001394659.1:p.Arg1448Lys
NP_001394660.1:p.Arg1448Lys
NP_001394661.1:p.Arg1447Lys
NP_001394662.1:p.Arg1447Lys
NP_001394663.1:p.Arg1447Lys
NP_001394664.1:p.Arg1447Lys
NP_001394665.1:p.Arg1447Lys
NP_001394666.1:p.Arg1447Lys
NP_001394667.1:p.Arg1447Lys
NP_001394668.1:p.Arg1447Lys
NP_001394669.1:p.Arg1447Lys
NP_001394670.1:p.Arg1447Lys
NP_001394671.1:p.Arg1447Lys
NP_001394672.1:p.Arg1447Lys
NP_001394673.1:p.Arg1447Lys
NP_001394674.1:p.Arg1447Lys
NP_001394675.1:p.Arg1447Lys
NP_001394676.1:p.Arg1447Lys
NP_001394677.1:p.Arg1447Lys
NP_001394678.1:p.Arg1447Lys
NP_001394679.1:p.Arg1447Lys
NP_001394680.1:p.Arg1447Lys
NP_001394681.1:p.Arg1447Lys
NP_001394767.1:p.Arg1446Lys
NP_001394768.1:p.Arg1446Lys
NP_001394770.1:p.Arg1446Lys
NP_001394771.1:p.Arg1446Lys
NP_001394772.1:p.Arg1446Lys
NP_001394773.1:p.Arg1446Lys
NP_001394774.1:p.Arg1446Lys
NP_001394775.1:p.Arg1446Lys
NP_001394776.1:p.Arg1446Lys
NP_001394777.1:p.Arg1446Lys
NP_001394778.1:p.Arg1446Lys
NP_001394779.1:p.Arg1446Lys
NP_001394780.1:p.Arg1446Lys
NP_001394781.1:p.Arg1446Lys
NP_001394782.1:p.Arg1446Lys
NP_001394783.1:p.Arg1495Lys
NP_001394787.1:p.Arg1494Lys
NP_001394788.1:p.Arg1494Lys
NP_001394789.1:p.Arg1494Lys
NP_001394790.1:p.Arg1493Lys
NP_001394791.1:p.Arg1428Lys
NP_001394792.1:p.Arg1453Lys
NP_001394803.1:p.Arg1426Lys
NP_001394804.1:p.Arg1426Lys
NP_001394808.1:p.Arg1425Lys
NP_001394810.1:p.Arg1425Lys
NP_001394811.1:p.Arg1425Lys
NP_001394813.1:p.Arg1425Lys
NP_001394814.1:p.Arg1425Lys
NP_001394815.1:p.Arg1425Lys
NP_001394816.1:p.Arg1425Lys
NP_001394818.1:p.Arg1425Lys
NP_001394823.1:p.Arg1424Lys
NP_001394824.1:p.Arg1424Lys
NP_001394825.1:p.Arg1424Lys
NP_001394826.1:p.Arg1424Lys
NP_001394827.1:p.Arg1424Lys
NP_001394828.1:p.Arg1424Lys
NP_001394829.1:p.Arg1424Lys
NP_001394831.1:p.Arg1424Lys
NP_001394833.1:p.Arg1424Lys
NP_001394835.1:p.Arg1424Lys
NP_001394836.1:p.Arg1424Lys
NP_001394837.1:p.Arg1424Lys
NP_001394838.1:p.Arg1424Lys
NP_001394839.1:p.Arg1424Lys
NP_001394844.1:p.Arg1423Lys
NP_001394845.1:p.Arg1423Lys
NP_001394846.1:p.Arg1423Lys
NP_001394847.1:p.Arg1423Lys
NP_001394848.1:p.Arg1454Lys
NP_001394849.1:p.Arg1407Lys
NP_001394850.1:p.Arg1407Lys
NP_001394851.1:p.Arg1407Lys
NP_001394852.1:p.Arg1407Lys
NP_001394853.1:p.Arg1407Lys
NP_001394854.1:p.Arg1407Lys
NP_001394855.1:p.Arg1407Lys
NP_001394856.1:p.Arg1406Lys
NP_001394857.1:p.Arg1406Lys
NP_001394858.1:p.Arg1406Lys
NP_001394859.1:p.Arg1406Lys
NP_001394860.1:p.Arg1406Lys
NP_001394861.1:p.Arg1406Lys
NP_001394862.1:p.Arg1406Lys
NP_001394863.1:p.Arg1405Lys
NP_001394864.1:p.Arg1405Lys
NP_001394865.1:p.Arg1405Lys
NP_001394866.1:p.Arg1454Lys
NP_001394867.1:p.Arg1454Lys
NP_001394868.1:p.Arg1453Lys
NP_001394869.1:p.Arg1453Lys
NP_001394870.1:p.Arg1452Lys
NP_001394871.1:p.Arg1448Lys
NP_001394872.1:p.Arg1447Lys
NP_001394873.1:p.Arg1447Lys
NP_001394874.1:p.Arg1447Lys
NP_001394875.1:p.Arg1384Lys
NP_001394876.1:p.Arg1384Lys
NP_001394877.1:p.Arg1384Lys
NP_001394878.1:p.Arg1384Lys
NP_001394879.1:p.Arg1383Lys
NP_001394880.1:p.Arg1383Lys
NP_001394881.1:p.Arg1383Lys
NP_001394882.1:p.Arg1383Lys
NP_001394883.1:p.Arg1383Lys
NP_001394884.1:p.Arg1383Lys
NP_001394885.1:p.Arg1382Lys
NP_001394886.1:p.Arg1382Lys
NP_001394887.1:p.Arg1382Lys
NP_001394888.1:p.Arg1368Lys
NP_001394889.1:p.Arg1367Lys
NP_001394891.1:p.Arg1367Lys
NP_001394892.1:p.Arg1366Lys
NP_001394894.1:p.Arg1326Lys
NP_001394895.1:p.Arg1199Lys
NP_001394896.1:p.Arg1198Lys
NP_001394897.1:p.Arg627Lys
NP_001394898.1:p.Arg626Lys
NP_001394899.1:p.Arg414Lys
NP_001394900.1:p.Arg414Lys
NP_001394901.1:p.Arg413Lys
NP_001394902.1:p.Arg392Lys
NP_001394903.1:p.Arg392Lys
NP_001394904.1:p.Arg392Lys
NP_001394905.1:p.Arg392Lys
NP_001394906.1:p.Arg392Lys
NP_001394907.1:p.Arg392Lys
NP_001394908.1:p.Arg391Lys
NP_001394909.1:p.Arg391Lys
NP_001394910.1:p.Arg391Lys
NP_001394911.1:p.Arg391Lys
NP_001394912.1:p.Arg391Lys
NP_001394913.1:p.Arg391Lys
NP_001394914.1:p.Arg391Lys
NP_001394915.1:p.Arg391Lys
NP_001394919.1:p.Arg391Lys
NP_001394920.1:p.Arg391Lys
NP_001394921.1:p.Arg391Lys
NP_001394922.1:p.Arg391Lys
NP_001395321.1:p.Arg390Lys
NP_001395325.1:p.Arg390Lys
NP_001395326.1:p.Arg390Lys
NP_001395327.1:p.Arg390Lys
NP_001395328.1:p.Arg390Lys
NP_001395329.1:p.Arg390Lys
NP_001395330.1:p.Arg390Lys
NP_001395331.1:p.Arg390Lys
NP_001395332.1:p.Arg390Lys
NP_001395333.1:p.Arg390Lys
NP_001395335.1:p.Arg389Lys
NP_001395336.1:p.Arg389Lys
NP_001395337.1:p.Arg389Lys
NP_001395338.1:p.Arg388Lys
NP_001395339.1:p.Arg367Lys
NP_001395340.1:p.Arg366Lys
NP_001395341.1:p.Arg365Lys
NP_001395342.1:p.Arg365Lys
NP_001395343.1:p.Arg365Lys
NP_001395344.1:p.Arg365Lys
NP_001395345.1:p.Arg365Lys
NP_001395347.1:p.Arg353Lys
NP_001395348.1:p.Arg353Lys
NP_001395349.1:p.Arg353Lys
NP_001395350.1:p.Arg352Lys
NP_001395351.1:p.Arg352Lys
NP_001395352.1:p.Arg352Lys
NP_001395353.1:p.Arg352Lys
NP_001395354.1:p.Arg351Lys
NP_001395355.1:p.Arg351Lys
NP_001395356.1:p.Arg351Lys
NP_001395357.1:p.Arg351Lys
NP_001395358.1:p.Arg351Lys
NP_001395359.1:p.Arg351Lys
NP_001395360.1:p.Arg351Lys
NP_001395361.1:p.Arg350Lys
NP_001395362.1:p.Arg350Lys
NP_001395363.1:p.Arg350Lys
NP_001395364.1:p.Arg350Lys
NP_001395365.1:p.Arg350Lys
NP_001395366.1:p.Arg350Lys
NP_001395367.1:p.Arg350Lys
NP_001395368.1:p.Arg350Lys
NP_001395369.1:p.Arg350Lys
NP_001395370.1:p.Arg350Lys
NP_001395371.1:p.Arg350Lys
NP_001395372.1:p.Arg350Lys
NP_001395373.1:p.Arg350Lys
NP_001395374.1:p.Arg349Lys
NP_001395375.1:p.Arg349Lys
NP_001395376.1:p.Arg349Lys
NP_001395377.1:p.Arg349Lys
NP_001395379.1:p.Arg349Lys
NP_001395380.1:p.Arg347Lys
NP_001395381.1:p.Arg345Lys
NP_001395382.1:p.Arg345Lys
NP_001395383.1:p.Arg345Lys
NP_001395384.1:p.Arg345Lys
NP_001395385.1:p.Arg345Lys
NP_001395386.1:p.Arg345Lys
NP_001395387.1:p.Arg344Lys
NP_001395388.1:p.Arg344Lys
NP_001395389.1:p.Arg344Lys
NP_001395390.1:p.Arg344Lys
NP_001395391.1:p.Arg344Lys
NP_001395392.1:p.Arg344Lys
NP_001395393.1:p.Arg344Lys
NP_001395394.1:p.Arg344Lys
NP_001395395.1:p.Arg344Lys
NP_001395396.1:p.Arg344Lys
NP_001395397.1:p.Arg343Lys
NP_001395398.1:p.Arg343Lys
NP_001395399.1:p.Arg343Lys
NP_001395401.1:p.Arg391Lys
NP_001395402.1:p.Arg390Lys
NP_001395403.1:p.Arg325Lys
NP_001395404.1:p.Arg324Lys
NP_001395405.1:p.Arg324Lys
NP_001395407.1:p.Arg322Lys
NP_001395408.1:p.Arg322Lys
NP_001395409.1:p.Arg322Lys
NP_001395410.1:p.Arg321Lys
NP_001395411.1:p.Arg321Lys
NP_001395412.1:p.Arg321Lys
NP_001395413.1:p.Arg321Lys
NP_001395414.1:p.Arg321Lys
NP_001395418.1:p.Arg321Lys
NP_001395419.1:p.Arg321Lys
NP_001395420.1:p.Arg321Lys
NP_001395421.1:p.Arg320Lys
NP_001395422.1:p.Arg320Lys
NP_001395423.1:p.Arg312Lys
NP_001395424.1:p.Arg310Lys
NP_001395425.1:p.Arg304Lys
NP_001395426.1:p.Arg304Lys
NP_001395427.1:p.Arg304Lys
NP_001395428.1:p.Arg304Lys
NP_001395429.1:p.Arg304Lys
NP_001395430.1:p.Arg304Lys
NP_001395431.1:p.Arg303Lys
NP_001395432.1:p.Arg303Lys
NP_001395433.1:p.Arg303Lys
NP_001395434.1:p.Arg302Lys
NP_001395435.1:p.Arg283Lys
NP_001395436.1:p.Arg282Lys
NP_001395437.1:p.Arg279Lys
NP_001395438.1:p.Arg278Lys
NP_001395439.1:p.Arg265Lys
NP_001395440.1:p.Arg264Lys
NP_001395441.1:p.Arg224Lys
NP_009225.1:p.Arg1495Lys
NP_009225.1:p.Arg1495Lys
NP_009228.2:p.Arg1448Lys
NP_009229.2:p.Arg391Lys
NP_009229.2:p.Arg391Lys
NP_009230.2:p.Arg391Lys
NP_009231.2:p.Arg1516Lys
NP_009235.2:p.Arg391Lys
LRG_292t1:c.4484G>A
LRG_292:g.141496G>A
LRG_292p1:p.Arg1495Lys
NC_000017.10:g.41228505C>T
NM_007294.3:c.4484G>A
NM_007298.3:c.1172G>A
NR_027676.2:n.4661G>A
U14680.1:n.4603G>A
p.R1495K

Nucleotide change:

4603G>A

Protein change:

R1198K

Links:

dbSNP: rs80357389

NCBI 1000 Genomes Browser:

rs80357389

Molecular consequence:

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

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast-ovarian cancer, familial 1; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000053778	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Uncertain significance (Aug 12, 2008)	germline	clinical testing
SCV000145099	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (Nov 25, 2004)	germline	clinical testing
SCV000325977	Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016)	Pathogenic (Oct 2, 2015)	germline	clinical testing	CIMBA_Mutation_Classification_guidelines_May16.pdf, Citation Link,
SCV000487909	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Likely pathogenic (Dec 10, 2015)	unknown	clinical testing	PubMed (6) [See all records that cite these PMIDs] 23704879, 22762150, 22711857, 22505045, 21523855, 19471317 Counsyl Autosomal Dominant Disease Classification criteria (2015), Citation Link,
SCV000564372	Department of Medical Genetics, Oslo University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 9, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004216921	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 24, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004243987	BRCAlab, Lund University	no assertion criteria provided	Likely pathogenic (Mar 2, 2020)	germline	clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	2	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	2	not provided	not provided	2	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
Latin American, Caribbean	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2.

Tram E, Savas S, Ozcelik H.

PLoS One. 2013 May 21;8(5):e62468. doi: 10.1371/journal.pone.0062468. Print 2013.

PubMed [citation]

PMID:: 23704879
PMCID:: PMC3660339

Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO).

Lecarpentier J, Noguès C, Mouret-Fourme E, Gauthier-Villars M, Lasset C, Fricker JP, Caron O, Stoppa-Lyonnet D, Berthet P, Faivre L, Bonadona V, Buecher B, Coupier I, Gladieff L, Gesta P, Eisinger F, Frénay M, Luporsi E, Lortholary A, Colas C, Dugast C, Longy M, et al.

Breast Cancer Res. 2012 Jul 3;14(4):R99. doi: 10.1186/bcr3218.

PubMed [citation]

PMID:: 22762150
PMCID:: PMC3680948

See all PubMed Citations (7)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000053778.4

#	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	not provided	2	not provided	not provided		not provided	not provided	not provided	See 1

Co-occurrences

#	Zygosity	Alleles	Number of Observations
1	SingleHeterozygote	BRCA1:S643G	1

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145099.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Latin American, Caribbean	1	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		1	not provided	not provided	not provided

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325977.4

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	2	not provided

From Counsyl, SCV000487909.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

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

From Department of Medical Genetics, Oslo University Hospital, SCV000564372.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

From Baylor Genetics, SCV004216921.1

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

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

From BRCAlab, Lund University, SCV004243987.1

#	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

Last Updated: Sep 16, 2024

Relating variation to medicine