NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Benign/Likely benign (5 submissions)
Last evaluated:: Feb 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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

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

Record status:: current
Accession:: RCV000048591.30

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)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000076604	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Feb 1, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000494296	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Benign (Jan 24, 2014)	germline	clinical testing	PubMed (12) [See all records that cite these PMIDs] 22703879, 16267036, 16014699, 20104584, 15689452, 21702907, 12215251, 12845657, 18680205, 11149413, 11979449, 12402332 LabCorp Variant Classification Summary - May 2015.docx, Citation Link,
SCV001977041	Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	no assertion criteria provided	Benign (Sep 27, 2021)	germline	clinical testing
SCV002025932	National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Apr 19, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002515214	Genetics Program, Instituto Nacional de Cancer	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Nov 1, 2021)	germline	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 36329109

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing, research

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.

Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

PubMed [citation]

PMID:: 22703879
PMCID:: PMC3397257

See all PubMed Citations (15)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000076604.14

#	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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000494296.2

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

From Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C., SCV001977041.1

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

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

From National Health Laboratory Service, Universitas Academic Hospital and University of the Free State, SCV002025932.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	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		3	not provided	not provided	not provided

From Genetics Program, Instituto Nacional de Cancer, SCV002515214.1

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

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

Last Updated: Nov 24, 2024

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