NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) AND not specified

Germline classification:: Benign (12 submissions)
Last evaluated:: Aug 15, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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

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

Record status:: current
Accession:: RCV000120258.38

Allele description [Variation Report for NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile)]

NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile)

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.4535G>T (p.Ser1512Ile)

Other names:

NP_009225.1:p.Ser1512Ile

HGVS:

NC_000017.11:g.43074471C>A
NG_005905.2:g.143513G>T
NM_001407571.1:c.4322G>T
NM_001407581.1:c.4601G>T
NM_001407582.1:c.4601G>T
NM_001407583.1:c.4598G>T
NM_001407585.1:c.4598G>T
NM_001407587.1:c.4598G>T
NM_001407590.1:c.4595G>T
NM_001407591.1:c.4595G>T
NM_001407593.1:c.4535G>T
NM_001407594.1:c.4535G>T
NM_001407596.1:c.4535G>T
NM_001407597.1:c.4535G>T
NM_001407598.1:c.4535G>T
NM_001407602.1:c.4535G>T
NM_001407603.1:c.4535G>T
NM_001407605.1:c.4535G>T
NM_001407610.1:c.4532G>T
NM_001407611.1:c.4532G>T
NM_001407612.1:c.4532G>T
NM_001407613.1:c.4532G>T
NM_001407614.1:c.4532G>T
NM_001407615.1:c.4532G>T
NM_001407616.1:c.4532G>T
NM_001407617.1:c.4532G>T
NM_001407618.1:c.4532G>T
NM_001407619.1:c.4532G>T
NM_001407620.1:c.4532G>T
NM_001407621.1:c.4532G>T
NM_001407622.1:c.4532G>T
NM_001407623.1:c.4532G>T
NM_001407624.1:c.4532G>T
NM_001407625.1:c.4532G>T
NM_001407626.1:c.4532G>T
NM_001407627.1:c.4529G>T
NM_001407628.1:c.4529G>T
NM_001407629.1:c.4529G>T
NM_001407630.1:c.4529G>T
NM_001407631.1:c.4529G>T
NM_001407632.1:c.4529G>T
NM_001407633.1:c.4529G>T
NM_001407634.1:c.4529G>T
NM_001407635.1:c.4529G>T
NM_001407636.1:c.4529G>T
NM_001407637.1:c.4529G>T
NM_001407638.1:c.4529G>T
NM_001407639.1:c.4529G>T
NM_001407640.1:c.4529G>T
NM_001407641.1:c.4529G>T
NM_001407642.1:c.4529G>T
NM_001407644.1:c.4526G>T
NM_001407645.1:c.4526G>T
NM_001407646.1:c.4523G>T
NM_001407647.1:c.4520G>T
NM_001407648.1:c.4478G>T
NM_001407649.1:c.4475G>T
NM_001407652.1:c.4535G>T
NM_001407653.1:c.4457G>T
NM_001407654.1:c.4457G>T
NM_001407655.1:c.4457G>T
NM_001407656.1:c.4454G>T
NM_001407657.1:c.4454G>T
NM_001407658.1:c.4454G>T
NM_001407659.1:c.4451G>T
NM_001407660.1:c.4451G>T
NM_001407661.1:c.4451G>T
NM_001407662.1:c.4451G>T
NM_001407663.1:c.4451G>T
NM_001407664.1:c.4412G>T
NM_001407665.1:c.4412G>T
NM_001407666.1:c.4412G>T
NM_001407667.1:c.4412G>T
NM_001407668.1:c.4412G>T
NM_001407669.1:c.4412G>T
NM_001407670.1:c.4409G>T
NM_001407671.1:c.4409G>T
NM_001407672.1:c.4409G>T
NM_001407673.1:c.4409G>T
NM_001407674.1:c.4409G>T
NM_001407675.1:c.4409G>T
NM_001407676.1:c.4409G>T
NM_001407677.1:c.4409G>T
NM_001407678.1:c.4409G>T
NM_001407679.1:c.4409G>T
NM_001407680.1:c.4409G>T
NM_001407681.1:c.4406G>T
NM_001407682.1:c.4406G>T
NM_001407683.1:c.4406G>T
NM_001407684.1:c.4535G>T
NM_001407685.1:c.4406G>T
NM_001407686.1:c.4406G>T
NM_001407687.1:c.4406G>T
NM_001407688.1:c.4406G>T
NM_001407689.1:c.4406G>T
NM_001407690.1:c.4403G>T
NM_001407691.1:c.4403G>T
NM_001407692.1:c.4394G>T
NM_001407694.1:c.4394G>T
NM_001407695.1:c.4394G>T
NM_001407696.1:c.4394G>T
NM_001407697.1:c.4394G>T
NM_001407698.1:c.4394G>T
NM_001407724.1:c.4394G>T
NM_001407725.1:c.4394G>T
NM_001407726.1:c.4394G>T
NM_001407727.1:c.4394G>T
NM_001407728.1:c.4394G>T
NM_001407729.1:c.4394G>T
NM_001407730.1:c.4394G>T
NM_001407731.1:c.4394G>T
NM_001407732.1:c.4391G>T
NM_001407733.1:c.4391G>T
NM_001407734.1:c.4391G>T
NM_001407735.1:c.4391G>T
NM_001407736.1:c.4391G>T
NM_001407737.1:c.4391G>T
NM_001407738.1:c.4391G>T
NM_001407739.1:c.4391G>T
NM_001407740.1:c.4391G>T
NM_001407741.1:c.4391G>T
NM_001407742.1:c.4391G>T
NM_001407743.1:c.4391G>T
NM_001407744.1:c.4391G>T
NM_001407745.1:c.4391G>T
NM_001407746.1:c.4391G>T
NM_001407747.1:c.4391G>T
NM_001407748.1:c.4391G>T
NM_001407749.1:c.4391G>T
NM_001407750.1:c.4391G>T
NM_001407751.1:c.4391G>T
NM_001407752.1:c.4391G>T
NM_001407838.1:c.4388G>T
NM_001407839.1:c.4388G>T
NM_001407841.1:c.4388G>T
NM_001407842.1:c.4388G>T
NM_001407843.1:c.4388G>T
NM_001407844.1:c.4388G>T
NM_001407845.1:c.4388G>T
NM_001407846.1:c.4388G>T
NM_001407847.1:c.4388G>T
NM_001407848.1:c.4388G>T
NM_001407849.1:c.4388G>T
NM_001407850.1:c.4388G>T
NM_001407851.1:c.4388G>T
NM_001407852.1:c.4388G>T
NM_001407853.1:c.4388G>T
NM_001407854.1:c.4535G>T
NM_001407858.1:c.4532G>T
NM_001407859.1:c.4532G>T
NM_001407860.1:c.4532G>T
NM_001407861.1:c.4529G>T
NM_001407862.1:c.4334G>T
NM_001407863.1:c.4409G>T
NM_001407874.1:c.4328G>T
NM_001407875.1:c.4328G>T
NM_001407879.1:c.4325G>T
NM_001407881.1:c.4325G>T
NM_001407882.1:c.4325G>T
NM_001407884.1:c.4325G>T
NM_001407885.1:c.4325G>T
NM_001407886.1:c.4325G>T
NM_001407887.1:c.4325G>T
NM_001407889.1:c.4325G>T
NM_001407894.1:c.4322G>T
NM_001407895.1:c.4322G>T
NM_001407896.1:c.4322G>T
NM_001407897.1:c.4322G>T
NM_001407898.1:c.4322G>T
NM_001407899.1:c.4322G>T
NM_001407900.1:c.4322G>T
NM_001407902.1:c.4322G>T
NM_001407904.1:c.4322G>T
NM_001407906.1:c.4322G>T
NM_001407907.1:c.4322G>T
NM_001407908.1:c.4322G>T
NM_001407909.1:c.4322G>T
NM_001407910.1:c.4322G>T
NM_001407915.1:c.4319G>T
NM_001407916.1:c.4319G>T
NM_001407917.1:c.4319G>T
NM_001407918.1:c.4319G>T
NM_001407919.1:c.4412G>T
NM_001407920.1:c.4271G>T
NM_001407921.1:c.4271G>T
NM_001407922.1:c.4271G>T
NM_001407923.1:c.4271G>T
NM_001407924.1:c.4271G>T
NM_001407925.1:c.4271G>T
NM_001407926.1:c.4271G>T
NM_001407927.1:c.4268G>T
NM_001407928.1:c.4268G>T
NM_001407929.1:c.4268G>T
NM_001407930.1:c.4268G>T
NM_001407931.1:c.4268G>T
NM_001407932.1:c.4268G>T
NM_001407933.1:c.4268G>T
NM_001407934.1:c.4265G>T
NM_001407935.1:c.4265G>T
NM_001407936.1:c.4265G>T
NM_001407937.1:c.4412G>T
NM_001407938.1:c.4412G>T
NM_001407939.1:c.4409G>T
NM_001407940.1:c.4409G>T
NM_001407941.1:c.4406G>T
NM_001407942.1:c.4394G>T
NM_001407943.1:c.4391G>T
NM_001407944.1:c.4391G>T
NM_001407945.1:c.4391G>T
NM_001407946.1:c.4202G>T
NM_001407947.1:c.4202G>T
NM_001407948.1:c.4202G>T
NM_001407949.1:c.4202G>T
NM_001407950.1:c.4199G>T
NM_001407951.1:c.4199G>T
NM_001407952.1:c.4199G>T
NM_001407953.1:c.4199G>T
NM_001407954.1:c.4199G>T
NM_001407955.1:c.4199G>T
NM_001407956.1:c.4196G>T
NM_001407957.1:c.4196G>T
NM_001407958.1:c.4196G>T
NM_001407959.1:c.4154G>T
NM_001407960.1:c.4151G>T
NM_001407962.1:c.4151G>T
NM_001407963.1:c.4148G>T
NM_001407965.1:c.4028G>T
NM_001407966.1:c.3647G>T
NM_001407967.1:c.3644G>T
NM_001407968.1:c.1931G>T
NM_001407969.1:c.1928G>T
NM_001407970.1:c.1292G>T
NM_001407971.1:c.1292G>T
NM_001407972.1:c.1289G>T
NM_001407973.1:c.1226G>T
NM_001407974.1:c.1226G>T
NM_001407975.1:c.1226G>T
NM_001407976.1:c.1226G>T
NM_001407977.1:c.1226G>T
NM_001407978.1:c.1226G>T
NM_001407979.1:c.1223G>T
NM_001407980.1:c.1223G>T
NM_001407981.1:c.1223G>T
NM_001407982.1:c.1223G>T
NM_001407983.1:c.1223G>T
NM_001407984.1:c.1223G>T
NM_001407985.1:c.1223G>T
NM_001407986.1:c.1223G>T
NM_001407990.1:c.1223G>T
NM_001407991.1:c.1223G>T
NM_001407992.1:c.1223G>T
NM_001407993.1:c.1223G>T
NM_001408392.1:c.1220G>T
NM_001408396.1:c.1220G>T
NM_001408397.1:c.1220G>T
NM_001408398.1:c.1220G>T
NM_001408399.1:c.1220G>T
NM_001408400.1:c.1220G>T
NM_001408401.1:c.1220G>T
NM_001408402.1:c.1220G>T
NM_001408403.1:c.1220G>T
NM_001408404.1:c.1220G>T
NM_001408406.1:c.1217G>T
NM_001408407.1:c.1217G>T
NM_001408408.1:c.1217G>T
NM_001408409.1:c.1214G>T
NM_001408410.1:c.1151G>T
NM_001408411.1:c.1148G>T
NM_001408412.1:c.1145G>T
NM_001408413.1:c.1145G>T
NM_001408414.1:c.1145G>T
NM_001408415.1:c.1145G>T
NM_001408416.1:c.1145G>T
NM_001408418.1:c.1109G>T
NM_001408419.1:c.1109G>T
NM_001408420.1:c.1109G>T
NM_001408421.1:c.1106G>T
NM_001408422.1:c.1106G>T
NM_001408423.1:c.1106G>T
NM_001408424.1:c.1106G>T
NM_001408425.1:c.1103G>T
NM_001408426.1:c.1103G>T
NM_001408427.1:c.1103G>T
NM_001408428.1:c.1103G>T
NM_001408429.1:c.1103G>T
NM_001408430.1:c.1103G>T
NM_001408431.1:c.1103G>T
NM_001408432.1:c.1100G>T
NM_001408433.1:c.1100G>T
NM_001408434.1:c.1100G>T
NM_001408435.1:c.1100G>T
NM_001408436.1:c.1100G>T
NM_001408437.1:c.1100G>T
NM_001408438.1:c.1100G>T
NM_001408439.1:c.1100G>T
NM_001408440.1:c.1100G>T
NM_001408441.1:c.1100G>T
NM_001408442.1:c.1100G>T
NM_001408443.1:c.1100G>T
NM_001408444.1:c.1100G>T
NM_001408445.1:c.1097G>T
NM_001408446.1:c.1097G>T
NM_001408447.1:c.1097G>T
NM_001408448.1:c.1097G>T
NM_001408450.1:c.1097G>T
NM_001408451.1:c.1091G>T
NM_001408452.1:c.1085G>T
NM_001408453.1:c.1085G>T
NM_001408454.1:c.1085G>T
NM_001408455.1:c.1085G>T
NM_001408456.1:c.1085G>T
NM_001408457.1:c.1085G>T
NM_001408458.1:c.1082G>T
NM_001408459.1:c.1082G>T
NM_001408460.1:c.1082G>T
NM_001408461.1:c.1082G>T
NM_001408462.1:c.1082G>T
NM_001408463.1:c.1082G>T
NM_001408464.1:c.1082G>T
NM_001408465.1:c.1082G>T
NM_001408466.1:c.1082G>T
NM_001408467.1:c.1082G>T
NM_001408468.1:c.1079G>T
NM_001408469.1:c.1079G>T
NM_001408470.1:c.1079G>T
NM_001408472.1:c.1223G>T
NM_001408473.1:c.1220G>T
NM_001408474.1:c.1025G>T
NM_001408475.1:c.1022G>T
NM_001408476.1:c.1022G>T
NM_001408478.1:c.1016G>T
NM_001408479.1:c.1016G>T
NM_001408480.1:c.1016G>T
NM_001408481.1:c.1013G>T
NM_001408482.1:c.1013G>T
NM_001408483.1:c.1013G>T
NM_001408484.1:c.1013G>T
NM_001408485.1:c.1013G>T
NM_001408489.1:c.1013G>T
NM_001408490.1:c.1013G>T
NM_001408491.1:c.1013G>T
NM_001408492.1:c.1010G>T
NM_001408493.1:c.1010G>T
NM_001408494.1:c.986G>T
NM_001408495.1:c.980G>T
NM_001408496.1:c.962G>T
NM_001408497.1:c.962G>T
NM_001408498.1:c.962G>T
NM_001408499.1:c.962G>T
NM_001408500.1:c.962G>T
NM_001408501.1:c.962G>T
NM_001408502.1:c.959G>T
NM_001408503.1:c.959G>T
NM_001408504.1:c.959G>T
NM_001408505.1:c.956G>T
NM_001408506.1:c.899G>T
NM_001408507.1:c.896G>T
NM_001408508.1:c.887G>T
NM_001408509.1:c.884G>T
NM_001408510.1:c.845G>T
NM_001408511.1:c.842G>T
NM_001408512.1:c.722G>T
NM_007294.4:c.4535G>TMANE SELECT
NM_007297.4:c.4394G>T
NM_007298.4:c.1223G>T
NM_007299.4:c.1223G>T
NM_007300.4:c.4598G>T
NM_007304.2:c.1223G>T
NP_001394500.1:p.Ser1441Ile
NP_001394510.1:p.Ser1534Ile
NP_001394511.1:p.Ser1534Ile
NP_001394512.1:p.Ser1533Ile
NP_001394514.1:p.Ser1533Ile
NP_001394516.1:p.Ser1533Ile
NP_001394519.1:p.Ser1532Ile
NP_001394520.1:p.Ser1532Ile
NP_001394522.1:p.Ser1512Ile
NP_001394523.1:p.Ser1512Ile
NP_001394525.1:p.Ser1512Ile
NP_001394526.1:p.Ser1512Ile
NP_001394527.1:p.Ser1512Ile
NP_001394531.1:p.Ser1512Ile
NP_001394532.1:p.Ser1512Ile
NP_001394534.1:p.Ser1512Ile
NP_001394539.1:p.Ser1511Ile
NP_001394540.1:p.Ser1511Ile
NP_001394541.1:p.Ser1511Ile
NP_001394542.1:p.Ser1511Ile
NP_001394543.1:p.Ser1511Ile
NP_001394544.1:p.Ser1511Ile
NP_001394545.1:p.Ser1511Ile
NP_001394546.1:p.Ser1511Ile
NP_001394547.1:p.Ser1511Ile
NP_001394548.1:p.Ser1511Ile
NP_001394549.1:p.Ser1511Ile
NP_001394550.1:p.Ser1511Ile
NP_001394551.1:p.Ser1511Ile
NP_001394552.1:p.Ser1511Ile
NP_001394553.1:p.Ser1511Ile
NP_001394554.1:p.Ser1511Ile
NP_001394555.1:p.Ser1511Ile
NP_001394556.1:p.Ser1510Ile
NP_001394557.1:p.Ser1510Ile
NP_001394558.1:p.Ser1510Ile
NP_001394559.1:p.Ser1510Ile
NP_001394560.1:p.Ser1510Ile
NP_001394561.1:p.Ser1510Ile
NP_001394562.1:p.Ser1510Ile
NP_001394563.1:p.Ser1510Ile
NP_001394564.1:p.Ser1510Ile
NP_001394565.1:p.Ser1510Ile
NP_001394566.1:p.Ser1510Ile
NP_001394567.1:p.Ser1510Ile
NP_001394568.1:p.Ser1510Ile
NP_001394569.1:p.Ser1510Ile
NP_001394570.1:p.Ser1510Ile
NP_001394571.1:p.Ser1510Ile
NP_001394573.1:p.Ser1509Ile
NP_001394574.1:p.Ser1509Ile
NP_001394575.1:p.Ser1508Ile
NP_001394576.1:p.Ser1507Ile
NP_001394577.1:p.Ser1493Ile
NP_001394578.1:p.Ser1492Ile
NP_001394581.1:p.Ser1512Ile
NP_001394582.1:p.Ser1486Ile
NP_001394583.1:p.Ser1486Ile
NP_001394584.1:p.Ser1486Ile
NP_001394585.1:p.Ser1485Ile
NP_001394586.1:p.Ser1485Ile
NP_001394587.1:p.Ser1485Ile
NP_001394588.1:p.Ser1484Ile
NP_001394589.1:p.Ser1484Ile
NP_001394590.1:p.Ser1484Ile
NP_001394591.1:p.Ser1484Ile
NP_001394592.1:p.Ser1484Ile
NP_001394593.1:p.Ser1471Ile
NP_001394594.1:p.Ser1471Ile
NP_001394595.1:p.Ser1471Ile
NP_001394596.1:p.Ser1471Ile
NP_001394597.1:p.Ser1471Ile
NP_001394598.1:p.Ser1471Ile
NP_001394599.1:p.Ser1470Ile
NP_001394600.1:p.Ser1470Ile
NP_001394601.1:p.Ser1470Ile
NP_001394602.1:p.Ser1470Ile
NP_001394603.1:p.Ser1470Ile
NP_001394604.1:p.Ser1470Ile
NP_001394605.1:p.Ser1470Ile
NP_001394606.1:p.Ser1470Ile
NP_001394607.1:p.Ser1470Ile
NP_001394608.1:p.Ser1470Ile
NP_001394609.1:p.Ser1470Ile
NP_001394610.1:p.Ser1469Ile
NP_001394611.1:p.Ser1469Ile
NP_001394612.1:p.Ser1469Ile
NP_001394613.1:p.Ser1512Ile
NP_001394614.1:p.Ser1469Ile
NP_001394615.1:p.Ser1469Ile
NP_001394616.1:p.Ser1469Ile
NP_001394617.1:p.Ser1469Ile
NP_001394618.1:p.Ser1469Ile
NP_001394619.1:p.Ser1468Ile
NP_001394620.1:p.Ser1468Ile
NP_001394621.1:p.Ser1465Ile
NP_001394623.1:p.Ser1465Ile
NP_001394624.1:p.Ser1465Ile
NP_001394625.1:p.Ser1465Ile
NP_001394626.1:p.Ser1465Ile
NP_001394627.1:p.Ser1465Ile
NP_001394653.1:p.Ser1465Ile
NP_001394654.1:p.Ser1465Ile
NP_001394655.1:p.Ser1465Ile
NP_001394656.1:p.Ser1465Ile
NP_001394657.1:p.Ser1465Ile
NP_001394658.1:p.Ser1465Ile
NP_001394659.1:p.Ser1465Ile
NP_001394660.1:p.Ser1465Ile
NP_001394661.1:p.Ser1464Ile
NP_001394662.1:p.Ser1464Ile
NP_001394663.1:p.Ser1464Ile
NP_001394664.1:p.Ser1464Ile
NP_001394665.1:p.Ser1464Ile
NP_001394666.1:p.Ser1464Ile
NP_001394667.1:p.Ser1464Ile
NP_001394668.1:p.Ser1464Ile
NP_001394669.1:p.Ser1464Ile
NP_001394670.1:p.Ser1464Ile
NP_001394671.1:p.Ser1464Ile
NP_001394672.1:p.Ser1464Ile
NP_001394673.1:p.Ser1464Ile
NP_001394674.1:p.Ser1464Ile
NP_001394675.1:p.Ser1464Ile
NP_001394676.1:p.Ser1464Ile
NP_001394677.1:p.Ser1464Ile
NP_001394678.1:p.Ser1464Ile
NP_001394679.1:p.Ser1464Ile
NP_001394680.1:p.Ser1464Ile
NP_001394681.1:p.Ser1464Ile
NP_001394767.1:p.Ser1463Ile
NP_001394768.1:p.Ser1463Ile
NP_001394770.1:p.Ser1463Ile
NP_001394771.1:p.Ser1463Ile
NP_001394772.1:p.Ser1463Ile
NP_001394773.1:p.Ser1463Ile
NP_001394774.1:p.Ser1463Ile
NP_001394775.1:p.Ser1463Ile
NP_001394776.1:p.Ser1463Ile
NP_001394777.1:p.Ser1463Ile
NP_001394778.1:p.Ser1463Ile
NP_001394779.1:p.Ser1463Ile
NP_001394780.1:p.Ser1463Ile
NP_001394781.1:p.Ser1463Ile
NP_001394782.1:p.Ser1463Ile
NP_001394783.1:p.Ser1512Ile
NP_001394787.1:p.Ser1511Ile
NP_001394788.1:p.Ser1511Ile
NP_001394789.1:p.Ser1511Ile
NP_001394790.1:p.Ser1510Ile
NP_001394791.1:p.Ser1445Ile
NP_001394792.1:p.Ser1470Ile
NP_001394803.1:p.Ser1443Ile
NP_001394804.1:p.Ser1443Ile
NP_001394808.1:p.Ser1442Ile
NP_001394810.1:p.Ser1442Ile
NP_001394811.1:p.Ser1442Ile
NP_001394813.1:p.Ser1442Ile
NP_001394814.1:p.Ser1442Ile
NP_001394815.1:p.Ser1442Ile
NP_001394816.1:p.Ser1442Ile
NP_001394818.1:p.Ser1442Ile
NP_001394823.1:p.Ser1441Ile
NP_001394824.1:p.Ser1441Ile
NP_001394825.1:p.Ser1441Ile
NP_001394826.1:p.Ser1441Ile
NP_001394827.1:p.Ser1441Ile
NP_001394828.1:p.Ser1441Ile
NP_001394829.1:p.Ser1441Ile
NP_001394831.1:p.Ser1441Ile
NP_001394833.1:p.Ser1441Ile
NP_001394835.1:p.Ser1441Ile
NP_001394836.1:p.Ser1441Ile
NP_001394837.1:p.Ser1441Ile
NP_001394838.1:p.Ser1441Ile
NP_001394839.1:p.Ser1441Ile
NP_001394844.1:p.Ser1440Ile
NP_001394845.1:p.Ser1440Ile
NP_001394846.1:p.Ser1440Ile
NP_001394847.1:p.Ser1440Ile
NP_001394848.1:p.Ser1471Ile
NP_001394849.1:p.Ser1424Ile
NP_001394850.1:p.Ser1424Ile
NP_001394851.1:p.Ser1424Ile
NP_001394852.1:p.Ser1424Ile
NP_001394853.1:p.Ser1424Ile
NP_001394854.1:p.Ser1424Ile
NP_001394855.1:p.Ser1424Ile
NP_001394856.1:p.Ser1423Ile
NP_001394857.1:p.Ser1423Ile
NP_001394858.1:p.Ser1423Ile
NP_001394859.1:p.Ser1423Ile
NP_001394860.1:p.Ser1423Ile
NP_001394861.1:p.Ser1423Ile
NP_001394862.1:p.Ser1423Ile
NP_001394863.1:p.Ser1422Ile
NP_001394864.1:p.Ser1422Ile
NP_001394865.1:p.Ser1422Ile
NP_001394866.1:p.Ser1471Ile
NP_001394867.1:p.Ser1471Ile
NP_001394868.1:p.Ser1470Ile
NP_001394869.1:p.Ser1470Ile
NP_001394870.1:p.Ser1469Ile
NP_001394871.1:p.Ser1465Ile
NP_001394872.1:p.Ser1464Ile
NP_001394873.1:p.Ser1464Ile
NP_001394874.1:p.Ser1464Ile
NP_001394875.1:p.Ser1401Ile
NP_001394876.1:p.Ser1401Ile
NP_001394877.1:p.Ser1401Ile
NP_001394878.1:p.Ser1401Ile
NP_001394879.1:p.Ser1400Ile
NP_001394880.1:p.Ser1400Ile
NP_001394881.1:p.Ser1400Ile
NP_001394882.1:p.Ser1400Ile
NP_001394883.1:p.Ser1400Ile
NP_001394884.1:p.Ser1400Ile
NP_001394885.1:p.Ser1399Ile
NP_001394886.1:p.Ser1399Ile
NP_001394887.1:p.Ser1399Ile
NP_001394888.1:p.Ser1385Ile
NP_001394889.1:p.Ser1384Ile
NP_001394891.1:p.Ser1384Ile
NP_001394892.1:p.Ser1383Ile
NP_001394894.1:p.Ser1343Ile
NP_001394895.1:p.Ser1216Ile
NP_001394896.1:p.Ser1215Ile
NP_001394897.1:p.Ser644Ile
NP_001394898.1:p.Ser643Ile
NP_001394899.1:p.Ser431Ile
NP_001394900.1:p.Ser431Ile
NP_001394901.1:p.Ser430Ile
NP_001394902.1:p.Ser409Ile
NP_001394903.1:p.Ser409Ile
NP_001394904.1:p.Ser409Ile
NP_001394905.1:p.Ser409Ile
NP_001394906.1:p.Ser409Ile
NP_001394907.1:p.Ser409Ile
NP_001394908.1:p.Ser408Ile
NP_001394909.1:p.Ser408Ile
NP_001394910.1:p.Ser408Ile
NP_001394911.1:p.Ser408Ile
NP_001394912.1:p.Ser408Ile
NP_001394913.1:p.Ser408Ile
NP_001394914.1:p.Ser408Ile
NP_001394915.1:p.Ser408Ile
NP_001394919.1:p.Ser408Ile
NP_001394920.1:p.Ser408Ile
NP_001394921.1:p.Ser408Ile
NP_001394922.1:p.Ser408Ile
NP_001395321.1:p.Ser407Ile
NP_001395325.1:p.Ser407Ile
NP_001395326.1:p.Ser407Ile
NP_001395327.1:p.Ser407Ile
NP_001395328.1:p.Ser407Ile
NP_001395329.1:p.Ser407Ile
NP_001395330.1:p.Ser407Ile
NP_001395331.1:p.Ser407Ile
NP_001395332.1:p.Ser407Ile
NP_001395333.1:p.Ser407Ile
NP_001395335.1:p.Ser406Ile
NP_001395336.1:p.Ser406Ile
NP_001395337.1:p.Ser406Ile
NP_001395338.1:p.Ser405Ile
NP_001395339.1:p.Ser384Ile
NP_001395340.1:p.Ser383Ile
NP_001395341.1:p.Ser382Ile
NP_001395342.1:p.Ser382Ile
NP_001395343.1:p.Ser382Ile
NP_001395344.1:p.Ser382Ile
NP_001395345.1:p.Ser382Ile
NP_001395347.1:p.Ser370Ile
NP_001395348.1:p.Ser370Ile
NP_001395349.1:p.Ser370Ile
NP_001395350.1:p.Ser369Ile
NP_001395351.1:p.Ser369Ile
NP_001395352.1:p.Ser369Ile
NP_001395353.1:p.Ser369Ile
NP_001395354.1:p.Ser368Ile
NP_001395355.1:p.Ser368Ile
NP_001395356.1:p.Ser368Ile
NP_001395357.1:p.Ser368Ile
NP_001395358.1:p.Ser368Ile
NP_001395359.1:p.Ser368Ile
NP_001395360.1:p.Ser368Ile
NP_001395361.1:p.Ser367Ile
NP_001395362.1:p.Ser367Ile
NP_001395363.1:p.Ser367Ile
NP_001395364.1:p.Ser367Ile
NP_001395365.1:p.Ser367Ile
NP_001395366.1:p.Ser367Ile
NP_001395367.1:p.Ser367Ile
NP_001395368.1:p.Ser367Ile
NP_001395369.1:p.Ser367Ile
NP_001395370.1:p.Ser367Ile
NP_001395371.1:p.Ser367Ile
NP_001395372.1:p.Ser367Ile
NP_001395373.1:p.Ser367Ile
NP_001395374.1:p.Ser366Ile
NP_001395375.1:p.Ser366Ile
NP_001395376.1:p.Ser366Ile
NP_001395377.1:p.Ser366Ile
NP_001395379.1:p.Ser366Ile
NP_001395380.1:p.Ser364Ile
NP_001395381.1:p.Ser362Ile
NP_001395382.1:p.Ser362Ile
NP_001395383.1:p.Ser362Ile
NP_001395384.1:p.Ser362Ile
NP_001395385.1:p.Ser362Ile
NP_001395386.1:p.Ser362Ile
NP_001395387.1:p.Ser361Ile
NP_001395388.1:p.Ser361Ile
NP_001395389.1:p.Ser361Ile
NP_001395390.1:p.Ser361Ile
NP_001395391.1:p.Ser361Ile
NP_001395392.1:p.Ser361Ile
NP_001395393.1:p.Ser361Ile
NP_001395394.1:p.Ser361Ile
NP_001395395.1:p.Ser361Ile
NP_001395396.1:p.Ser361Ile
NP_001395397.1:p.Ser360Ile
NP_001395398.1:p.Ser360Ile
NP_001395399.1:p.Ser360Ile
NP_001395401.1:p.Ser408Ile
NP_001395402.1:p.Ser407Ile
NP_001395403.1:p.Ser342Ile
NP_001395404.1:p.Ser341Ile
NP_001395405.1:p.Ser341Ile
NP_001395407.1:p.Ser339Ile
NP_001395408.1:p.Ser339Ile
NP_001395409.1:p.Ser339Ile
NP_001395410.1:p.Ser338Ile
NP_001395411.1:p.Ser338Ile
NP_001395412.1:p.Ser338Ile
NP_001395413.1:p.Ser338Ile
NP_001395414.1:p.Ser338Ile
NP_001395418.1:p.Ser338Ile
NP_001395419.1:p.Ser338Ile
NP_001395420.1:p.Ser338Ile
NP_001395421.1:p.Ser337Ile
NP_001395422.1:p.Ser337Ile
NP_001395423.1:p.Ser329Ile
NP_001395424.1:p.Ser327Ile
NP_001395425.1:p.Ser321Ile
NP_001395426.1:p.Ser321Ile
NP_001395427.1:p.Ser321Ile
NP_001395428.1:p.Ser321Ile
NP_001395429.1:p.Ser321Ile
NP_001395430.1:p.Ser321Ile
NP_001395431.1:p.Ser320Ile
NP_001395432.1:p.Ser320Ile
NP_001395433.1:p.Ser320Ile
NP_001395434.1:p.Ser319Ile
NP_001395435.1:p.Ser300Ile
NP_001395436.1:p.Ser299Ile
NP_001395437.1:p.Ser296Ile
NP_001395438.1:p.Ser295Ile
NP_001395439.1:p.Ser282Ile
NP_001395440.1:p.Ser281Ile
NP_001395441.1:p.Ser241Ile
NP_009225.1:p.Ser1512Ile
NP_009225.1:p.Ser1512Ile
NP_009228.2:p.Ser1465Ile
NP_009229.2:p.Ser408Ile
NP_009229.2:p.Ser408Ile
NP_009230.2:p.Ser408Ile
NP_009231.2:p.Ser1533Ile
NP_009235.2:p.Ser408Ile
LRG_292t1:c.4535G>T
LRG_292:g.143513G>T
LRG_292p1:p.Ser1512Ile
NC_000017.10:g.41226488C>A
NM_007294.2:c.4535G>T
NM_007294.3:c.4535G>T
NM_007294.4:c.4535G>T
NM_007298.3:c.1223G>T
NM_007299.3:c.1223G>T
NM_007300.3:c.4598G>T
NR_027676.2:n.4712G>T
P38398:p.Ser1512Ile
U14680.1:n.4654G>T
p.S1512I

Nucleotide change:

4654G>T

Protein change:

S1215I

Links:

BRCA1-HCI: BRCA1_00016; UniProtKB: P38398#VAR_007788; dbSNP: rs1800744

NCBI 1000 Genomes Browser:

rs1800744

Molecular consequence:

NM_001407571.1:c.4322G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.4601G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.4601G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.4598G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.4598G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.4598G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.4595G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.4595G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.4535G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.4535G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.4535G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.4535G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.4535G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.4535G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.4535G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.4535G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.4532G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.4532G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.4532G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.4532G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.4532G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.4532G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.4532G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.4532G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.4532G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.4532G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.4532G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.4532G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.4532G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.4532G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.4532G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.4532G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.4532G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.4529G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.4529G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.4529G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.4529G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.4529G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.4529G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.4529G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.4529G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.4529G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.4529G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.4529G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.4529G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.4529G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.4529G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.4529G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.4529G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.4526G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.4526G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.4523G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.4520G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.4478G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.4475G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.4535G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.4457G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.4457G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.4457G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.4454G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.4454G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.4454G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.4451G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.4451G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.4451G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.4451G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.4451G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.4412G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.4412G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.4412G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.4412G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.4412G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.4412G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.4409G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.4409G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.4409G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.4409G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.4409G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.4409G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.4409G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.4409G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.4409G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.4409G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.4409G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.4406G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.4406G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.4406G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.4535G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.4406G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.4406G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.4406G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.4406G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.4406G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.4403G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.4403G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.4394G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.4394G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.4394G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.4394G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.4394G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.4394G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.4394G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.4394G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.4394G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.4394G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.4394G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.4394G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.4394G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.4394G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.4391G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.4391G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.4391G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.4391G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.4391G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.4391G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.4391G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.4391G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.4391G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.4391G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.4391G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.4391G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.4391G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.4391G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.4391G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.4391G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.4391G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.4391G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.4391G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.4391G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.4391G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.4388G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.4388G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.4388G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.4388G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.4388G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.4388G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.4388G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.4388G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.4388G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.4388G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.4388G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.4388G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.4388G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.4388G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.4388G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.4535G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.4532G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.4532G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.4532G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.4529G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.4334G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.4409G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.4328G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.4328G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.4325G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.4325G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.4325G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.4325G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.4325G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.4325G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.4325G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.4325G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.4322G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.4322G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.4322G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.4322G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.4322G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.4322G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.4322G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.4322G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.4322G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.4322G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.4322G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.4322G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.4322G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.4322G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.4319G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.4319G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.4319G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.4319G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.4412G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.4271G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.4271G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.4271G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.4271G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.4271G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.4271G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.4271G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.4268G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.4268G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.4268G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.4268G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.4268G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.4268G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.4268G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.4265G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.4265G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.4265G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.4412G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.4412G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.4409G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.4409G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.4406G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.4394G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.4391G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.4391G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.4391G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.4202G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.4202G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.4202G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.4202G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.4199G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.4199G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.4199G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.4199G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.4199G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.4199G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.4196G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.4196G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.4196G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.4154G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.4151G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.4151G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.4148G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.4028G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.3647G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.3644G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407968.1:c.1931G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407969.1:c.1928G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407970.1:c.1292G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407971.1:c.1292G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407972.1:c.1289G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407973.1:c.1226G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407974.1:c.1226G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407975.1:c.1226G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407976.1:c.1226G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407977.1:c.1226G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407978.1:c.1226G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407979.1:c.1223G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407980.1:c.1223G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407981.1:c.1223G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407982.1:c.1223G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407983.1:c.1223G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407984.1:c.1223G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407985.1:c.1223G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407986.1:c.1223G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407990.1:c.1223G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407991.1:c.1223G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407992.1:c.1223G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001407993.1:c.1223G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408392.1:c.1220G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408396.1:c.1220G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408397.1:c.1220G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408398.1:c.1220G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408399.1:c.1220G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408400.1:c.1220G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408401.1:c.1220G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408402.1:c.1220G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408403.1:c.1220G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408404.1:c.1220G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408406.1:c.1217G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408407.1:c.1217G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408408.1:c.1217G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408409.1:c.1214G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408410.1:c.1151G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408411.1:c.1148G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408412.1:c.1145G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408413.1:c.1145G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408414.1:c.1145G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408415.1:c.1145G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408416.1:c.1145G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408418.1:c.1109G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408419.1:c.1109G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408420.1:c.1109G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408421.1:c.1106G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408422.1:c.1106G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408423.1:c.1106G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408424.1:c.1106G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408425.1:c.1103G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408426.1:c.1103G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408427.1:c.1103G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408428.1:c.1103G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408429.1:c.1103G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408430.1:c.1103G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408431.1:c.1103G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408432.1:c.1100G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408433.1:c.1100G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408434.1:c.1100G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408435.1:c.1100G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408436.1:c.1100G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408437.1:c.1100G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408438.1:c.1100G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408439.1:c.1100G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408440.1:c.1100G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408441.1:c.1100G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408442.1:c.1100G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408443.1:c.1100G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408444.1:c.1100G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408445.1:c.1097G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408446.1:c.1097G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408447.1:c.1097G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408448.1:c.1097G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408450.1:c.1097G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408451.1:c.1091G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408452.1:c.1085G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408453.1:c.1085G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408454.1:c.1085G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408455.1:c.1085G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408456.1:c.1085G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408457.1:c.1085G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408458.1:c.1082G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408459.1:c.1082G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408460.1:c.1082G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408461.1:c.1082G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408462.1:c.1082G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408463.1:c.1082G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408464.1:c.1082G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408465.1:c.1082G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408466.1:c.1082G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408467.1:c.1082G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408468.1:c.1079G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408469.1:c.1079G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408470.1:c.1079G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408472.1:c.1223G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408473.1:c.1220G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408474.1:c.1025G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408475.1:c.1022G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408476.1:c.1022G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408478.1:c.1016G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408479.1:c.1016G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408480.1:c.1016G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408481.1:c.1013G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408482.1:c.1013G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408483.1:c.1013G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408484.1:c.1013G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408485.1:c.1013G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408489.1:c.1013G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408490.1:c.1013G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408491.1:c.1013G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408492.1:c.1010G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408493.1:c.1010G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408494.1:c.986G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408495.1:c.980G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408496.1:c.962G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408497.1:c.962G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408498.1:c.962G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408499.1:c.962G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408500.1:c.962G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408501.1:c.962G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408502.1:c.959G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408503.1:c.959G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408504.1:c.959G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408505.1:c.956G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408506.1:c.899G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408507.1:c.896G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408508.1:c.887G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408509.1:c.884G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408510.1:c.845G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408511.1:c.842G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001408512.1:c.722G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.4535G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.4394G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007298.4:c.1223G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007299.4:c.1223G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.4598G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_007304.2:c.1223G>T - missense variant - [Sequence Ontology: SO:0001583]
NR_027676.2:n.4712G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000084410	ITMI	no classification provided	not provided	germline	reference population	PubMed (1) [See all records that cite this PMID]
SCV000226128	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Jul 10, 2014)	germline	clinical testing	Citation Link,
SCV000586900	Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency - The Canadian Open Genetics Repository (COGR)	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Apr 18, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000587407	Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)	no assertion criteria provided	Benign (Jan 31, 2014)	germline	research
SCV000591526	Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR) See additional submitters Franklin by Genoox	no assertion criteria provided	Benign	unknown	clinical testing
SCV000593659	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Dec 9, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000806953	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Nov 7, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001469392	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Benign (Jun 15, 2020)	unknown	clinical testing	PubMed (12) [See all records that cite these PMIDs] 9150149, 9391879, 18680205, 15235020, 15689452, 11389159, 16014699, 9523200, 17279547, 12215251, 21990134, 26467025
SCV001906427	Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing
SCV001953385	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing
SCV002035335	Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing
SCV002550974	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Aug 15, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	4	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing, research
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
African	germline	unknown	not provided	not provided	not provided	43	not provided	reference population
African_European	germline	unknown	not provided	not provided	not provided	46	not provided	reference population
Central_Asian	germline	unknown	not provided	not provided	not provided	50	not provided	reference population
East_Asian	germline	unknown	not provided	not provided	not provided	62	not provided	reference population
European	germline	unknown	not provided	not provided	not provided	331	not provided	reference population
Hispanic	germline	unknown	not provided	not provided	not provided	118	not provided	reference population
Whole_cohort	germline	unknown	not provided	not provided	not provided	681	not provided	reference population

Citations

PubMed

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

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

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

PubMed [citation]

PMID:: 24728327
PMCID:: PMC3984285

BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic. Institut Curie Breast Cancer Group.

Stoppa-Lyonnet D, Laurent-Puig P, Essioux L, Pagès S, Ithier G, Ligot L, Fourquet A, Salmon RJ, Clough KB, Pouillart P, Bonaïti-Pellié C, Thomas G.

Am J Hum Genet. 1997 May;60(5):1021-30.

PubMed [citation]

PMID:: 9150149
PMCID:: PMC1712430

See all PubMed Citations (14)

Details of each submission

From ITMI, SCV000084410.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	43	not provided	discovery		not provided	0	not provided	not provided
2	germline	unknown	46	not provided	discovery		not provided	0	not provided	not provided
3	germline	unknown	50	not provided	discovery		not provided	0	not provided	not provided
4	germline	unknown	62	not provided	discovery		not provided	0	not provided	not provided
5	germline	unknown	331	not provided	discovery		not provided	0.0076	not provided	not provided
6	germline	unknown	118	not provided	discovery		not provided	0	not provided	not provided
7	germline	unknown	681	not provided	discovery		not provided	0.0037	not provided	not provided

From Eurofins Ntd Llc (ga), SCV000226128.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	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		4	not provided	not provided	not provided

From Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency - The Canadian Open Genetics Repository (COGR), SCV000586900.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	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), SCV000587407.1

#	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 Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591526.2

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

Description

The BRCA1, c.4535G>T, p.Ser1512Ile variant has been reported in the literature in 6/2156 proband chromosomes of individuals with HBOC and sporadic breast/ ovarian cancer. It was also identified in 6/1360 of the control chromosomes evaluated (Al-Mulla_2008, Bergthorsson_2001, Young_2009, Wagner_1998, Tavtigian_2006, Phelan_2005, Sanz_2010). The variant has also been previously identified in our laboratory in 6 individuals, and was classified as benign. The variant is reported in the BIC (x58), Exome Server and BOCs databases. It is also listed in the dbSNP database as coming from a "clinical source" (ID#: rs1800744) with a MAF score of 0.001 (1000 Genomes), increasing the likelihood that this is a low frequency benign variant. The residue is not conserved in mammals, and computational analyses (PolyPhen, SIFT, AlignGVGD) provide inconsistent predictions regarding the impact to the protein. However, this information is not very predictive of pathogenicity. Functional studies examining the effect of the variant on transcriptional activation found that the variant levels were equal to or higher than that of wild type BRCA1, suggesting that it does not represent a high risk variant & is likely to have low clinical significance (Phelan_2005). Studies have also reported that p.Ser1512Ile has been found to co-occur with other known BRCA1 pathogenic variants numerous times, increasing the likelihood that this variant does not have clinical significance (Bergthorsson_2001, Tavtigian_2006, Phelan_2005). In summary, based on the above information, this variant is classified as Benign.

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

From Genetic Services Laboratory, University of Chicago, SCV000593659.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From PreventionGenetics, part of Exact Sciences, SCV000806953.1

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

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001469392.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (12)

#	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 Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute - VKGL Data-share Consensus, SCV001906427.1

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

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

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001953385.1

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

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

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV002035335.1

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

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

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV002550974.4

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

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

Last Updated: Nov 24, 2024

Relating variation to medicine