NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Benign (9 submissions)
Last evaluated:: Aug 10, 2015
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000112369.22

Allele description [Variation Report for NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn)]

NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn)

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.4636G>A (p.Asp1546Asn)

Other names:

p.D1546N:GAT>AAT; 4755G>A; NP_009225.1:p.Asp1546Asn

HGVS:

NC_000017.11:g.43074370C>T
NG_005905.2:g.143614G>A
NM_001407571.1:c.4423G>A
NM_001407581.1:c.4702G>A
NM_001407582.1:c.4702G>A
NM_001407583.1:c.4699G>A
NM_001407585.1:c.4699G>A
NM_001407587.1:c.4699G>A
NM_001407590.1:c.4696G>A
NM_001407591.1:c.4696G>A
NM_001407593.1:c.4636G>A
NM_001407594.1:c.4636G>A
NM_001407596.1:c.4636G>A
NM_001407597.1:c.4636G>A
NM_001407598.1:c.4636G>A
NM_001407602.1:c.4636G>A
NM_001407603.1:c.4636G>A
NM_001407605.1:c.4636G>A
NM_001407610.1:c.4633G>A
NM_001407611.1:c.4633G>A
NM_001407612.1:c.4633G>A
NM_001407613.1:c.4633G>A
NM_001407614.1:c.4633G>A
NM_001407615.1:c.4633G>A
NM_001407616.1:c.4633G>A
NM_001407617.1:c.4633G>A
NM_001407618.1:c.4633G>A
NM_001407619.1:c.4633G>A
NM_001407620.1:c.4633G>A
NM_001407621.1:c.4633G>A
NM_001407622.1:c.4633G>A
NM_001407623.1:c.4633G>A
NM_001407624.1:c.4633G>A
NM_001407625.1:c.4633G>A
NM_001407626.1:c.4633G>A
NM_001407627.1:c.4630G>A
NM_001407628.1:c.4630G>A
NM_001407629.1:c.4630G>A
NM_001407630.1:c.4630G>A
NM_001407631.1:c.4630G>A
NM_001407632.1:c.4630G>A
NM_001407633.1:c.4630G>A
NM_001407634.1:c.4630G>A
NM_001407635.1:c.4630G>A
NM_001407636.1:c.4630G>A
NM_001407637.1:c.4630G>A
NM_001407638.1:c.4630G>A
NM_001407639.1:c.4630G>A
NM_001407640.1:c.4630G>A
NM_001407641.1:c.4630G>A
NM_001407642.1:c.4630G>A
NM_001407644.1:c.4627G>A
NM_001407645.1:c.4627G>A
NM_001407646.1:c.4624G>A
NM_001407647.1:c.4621G>A
NM_001407648.1:c.4579G>A
NM_001407649.1:c.4576G>A
NM_001407652.1:c.4636G>A
NM_001407653.1:c.4558G>A
NM_001407654.1:c.4558G>A
NM_001407655.1:c.4558G>A
NM_001407656.1:c.4555G>A
NM_001407657.1:c.4555G>A
NM_001407658.1:c.4555G>A
NM_001407659.1:c.4552G>A
NM_001407660.1:c.4552G>A
NM_001407661.1:c.4552G>A
NM_001407662.1:c.4552G>A
NM_001407663.1:c.4552G>A
NM_001407664.1:c.4513G>A
NM_001407665.1:c.4513G>A
NM_001407666.1:c.4513G>A
NM_001407667.1:c.4513G>A
NM_001407668.1:c.4513G>A
NM_001407669.1:c.4513G>A
NM_001407670.1:c.4510G>A
NM_001407671.1:c.4510G>A
NM_001407672.1:c.4510G>A
NM_001407673.1:c.4510G>A
NM_001407674.1:c.4510G>A
NM_001407675.1:c.4510G>A
NM_001407676.1:c.4510G>A
NM_001407677.1:c.4510G>A
NM_001407678.1:c.4510G>A
NM_001407679.1:c.4510G>A
NM_001407680.1:c.4510G>A
NM_001407681.1:c.4507G>A
NM_001407682.1:c.4507G>A
NM_001407683.1:c.4507G>A
NM_001407684.1:c.4636G>A
NM_001407685.1:c.4507G>A
NM_001407686.1:c.4507G>A
NM_001407687.1:c.4507G>A
NM_001407688.1:c.4507G>A
NM_001407689.1:c.4507G>A
NM_001407690.1:c.4504G>A
NM_001407691.1:c.4504G>A
NM_001407692.1:c.4495G>A
NM_001407694.1:c.4495G>A
NM_001407695.1:c.4495G>A
NM_001407696.1:c.4495G>A
NM_001407697.1:c.4495G>A
NM_001407698.1:c.4495G>A
NM_001407724.1:c.4495G>A
NM_001407725.1:c.4495G>A
NM_001407726.1:c.4495G>A
NM_001407727.1:c.4495G>A
NM_001407728.1:c.4495G>A
NM_001407729.1:c.4495G>A
NM_001407730.1:c.4495G>A
NM_001407731.1:c.4495G>A
NM_001407732.1:c.4492G>A
NM_001407733.1:c.4492G>A
NM_001407734.1:c.4492G>A
NM_001407735.1:c.4492G>A
NM_001407736.1:c.4492G>A
NM_001407737.1:c.4492G>A
NM_001407738.1:c.4492G>A
NM_001407739.1:c.4492G>A
NM_001407740.1:c.4492G>A
NM_001407741.1:c.4492G>A
NM_001407742.1:c.4492G>A
NM_001407743.1:c.4492G>A
NM_001407744.1:c.4492G>A
NM_001407745.1:c.4492G>A
NM_001407746.1:c.4492G>A
NM_001407747.1:c.4492G>A
NM_001407748.1:c.4492G>A
NM_001407749.1:c.4492G>A
NM_001407750.1:c.4492G>A
NM_001407751.1:c.4492G>A
NM_001407752.1:c.4492G>A
NM_001407838.1:c.4489G>A
NM_001407839.1:c.4489G>A
NM_001407841.1:c.4489G>A
NM_001407842.1:c.4489G>A
NM_001407843.1:c.4489G>A
NM_001407844.1:c.4489G>A
NM_001407845.1:c.4489G>A
NM_001407846.1:c.4489G>A
NM_001407847.1:c.4489G>A
NM_001407848.1:c.4489G>A
NM_001407849.1:c.4489G>A
NM_001407850.1:c.4489G>A
NM_001407851.1:c.4489G>A
NM_001407852.1:c.4489G>A
NM_001407853.1:c.4489G>A
NM_001407854.1:c.4636G>A
NM_001407858.1:c.4633G>A
NM_001407859.1:c.4633G>A
NM_001407860.1:c.4633G>A
NM_001407861.1:c.4630G>A
NM_001407862.1:c.4435G>A
NM_001407863.1:c.4510G>A
NM_001407874.1:c.4429G>A
NM_001407875.1:c.4429G>A
NM_001407879.1:c.4426G>A
NM_001407881.1:c.4426G>A
NM_001407882.1:c.4426G>A
NM_001407884.1:c.4426G>A
NM_001407885.1:c.4426G>A
NM_001407886.1:c.4426G>A
NM_001407887.1:c.4426G>A
NM_001407889.1:c.4426G>A
NM_001407894.1:c.4423G>A
NM_001407895.1:c.4423G>A
NM_001407896.1:c.4423G>A
NM_001407897.1:c.4423G>A
NM_001407898.1:c.4423G>A
NM_001407899.1:c.4423G>A
NM_001407900.1:c.4423G>A
NM_001407902.1:c.4423G>A
NM_001407904.1:c.4423G>A
NM_001407906.1:c.4423G>A
NM_001407907.1:c.4423G>A
NM_001407908.1:c.4423G>A
NM_001407909.1:c.4423G>A
NM_001407910.1:c.4423G>A
NM_001407915.1:c.4420G>A
NM_001407916.1:c.4420G>A
NM_001407917.1:c.4420G>A
NM_001407918.1:c.4420G>A
NM_001407919.1:c.4513G>A
NM_001407920.1:c.4372G>A
NM_001407921.1:c.4372G>A
NM_001407922.1:c.4372G>A
NM_001407923.1:c.4372G>A
NM_001407924.1:c.4372G>A
NM_001407925.1:c.4372G>A
NM_001407926.1:c.4372G>A
NM_001407927.1:c.4369G>A
NM_001407928.1:c.4369G>A
NM_001407929.1:c.4369G>A
NM_001407930.1:c.4369G>A
NM_001407931.1:c.4369G>A
NM_001407932.1:c.4369G>A
NM_001407933.1:c.4369G>A
NM_001407934.1:c.4366G>A
NM_001407935.1:c.4366G>A
NM_001407936.1:c.4366G>A
NM_001407937.1:c.4513G>A
NM_001407938.1:c.4513G>A
NM_001407939.1:c.4510G>A
NM_001407940.1:c.4510G>A
NM_001407941.1:c.4507G>A
NM_001407942.1:c.4495G>A
NM_001407943.1:c.4492G>A
NM_001407944.1:c.4492G>A
NM_001407945.1:c.4492G>A
NM_001407946.1:c.4303G>A
NM_001407947.1:c.4303G>A
NM_001407948.1:c.4303G>A
NM_001407949.1:c.4303G>A
NM_001407950.1:c.4300G>A
NM_001407951.1:c.4300G>A
NM_001407952.1:c.4300G>A
NM_001407953.1:c.4300G>A
NM_001407954.1:c.4300G>A
NM_001407955.1:c.4300G>A
NM_001407956.1:c.4297G>A
NM_001407957.1:c.4297G>A
NM_001407958.1:c.4297G>A
NM_001407959.1:c.4255G>A
NM_001407960.1:c.4252G>A
NM_001407962.1:c.4252G>A
NM_001407963.1:c.4249G>A
NM_001407965.1:c.4129G>A
NM_001407966.1:c.3748G>A
NM_001407967.1:c.3745G>A
NM_001407968.1:c.2032G>A
NM_001407969.1:c.2029G>A
NM_001407970.1:c.1393G>A
NM_001407971.1:c.1393G>A
NM_001407972.1:c.1390G>A
NM_001407973.1:c.1327G>A
NM_001407974.1:c.1327G>A
NM_001407975.1:c.1327G>A
NM_001407976.1:c.1327G>A
NM_001407977.1:c.1327G>A
NM_001407978.1:c.1327G>A
NM_001407979.1:c.1324G>A
NM_001407980.1:c.1324G>A
NM_001407981.1:c.1324G>A
NM_001407982.1:c.1324G>A
NM_001407983.1:c.1324G>A
NM_001407984.1:c.1324G>A
NM_001407985.1:c.1324G>A
NM_001407986.1:c.1324G>A
NM_001407990.1:c.1324G>A
NM_001407991.1:c.1324G>A
NM_001407992.1:c.1324G>A
NM_001407993.1:c.1324G>A
NM_001408392.1:c.1321G>A
NM_001408396.1:c.1321G>A
NM_001408397.1:c.1321G>A
NM_001408398.1:c.1321G>A
NM_001408399.1:c.1321G>A
NM_001408400.1:c.1321G>A
NM_001408401.1:c.1321G>A
NM_001408402.1:c.1321G>A
NM_001408403.1:c.1321G>A
NM_001408404.1:c.1321G>A
NM_001408406.1:c.1318G>A
NM_001408407.1:c.1318G>A
NM_001408408.1:c.1318G>A
NM_001408409.1:c.1315G>A
NM_001408410.1:c.1252G>A
NM_001408411.1:c.1249G>A
NM_001408412.1:c.1246G>A
NM_001408413.1:c.1246G>A
NM_001408414.1:c.1246G>A
NM_001408415.1:c.1246G>A
NM_001408416.1:c.1246G>A
NM_001408418.1:c.1210G>A
NM_001408419.1:c.1210G>A
NM_001408420.1:c.1210G>A
NM_001408421.1:c.1207G>A
NM_001408422.1:c.1207G>A
NM_001408423.1:c.1207G>A
NM_001408424.1:c.1207G>A
NM_001408425.1:c.1204G>A
NM_001408426.1:c.1204G>A
NM_001408427.1:c.1204G>A
NM_001408428.1:c.1204G>A
NM_001408429.1:c.1204G>A
NM_001408430.1:c.1204G>A
NM_001408431.1:c.1204G>A
NM_001408432.1:c.1201G>A
NM_001408433.1:c.1201G>A
NM_001408434.1:c.1201G>A
NM_001408435.1:c.1201G>A
NM_001408436.1:c.1201G>A
NM_001408437.1:c.1201G>A
NM_001408438.1:c.1201G>A
NM_001408439.1:c.1201G>A
NM_001408440.1:c.1201G>A
NM_001408441.1:c.1201G>A
NM_001408442.1:c.1201G>A
NM_001408443.1:c.1201G>A
NM_001408444.1:c.1201G>A
NM_001408445.1:c.1198G>A
NM_001408446.1:c.1198G>A
NM_001408447.1:c.1198G>A
NM_001408448.1:c.1198G>A
NM_001408450.1:c.1198G>A
NM_001408451.1:c.1192G>A
NM_001408452.1:c.1186G>A
NM_001408453.1:c.1186G>A
NM_001408454.1:c.1186G>A
NM_001408455.1:c.1186G>A
NM_001408456.1:c.1186G>A
NM_001408457.1:c.1186G>A
NM_001408458.1:c.1183G>A
NM_001408459.1:c.1183G>A
NM_001408460.1:c.1183G>A
NM_001408461.1:c.1183G>A
NM_001408462.1:c.1183G>A
NM_001408463.1:c.1183G>A
NM_001408464.1:c.1183G>A
NM_001408465.1:c.1183G>A
NM_001408466.1:c.1183G>A
NM_001408467.1:c.1183G>A
NM_001408468.1:c.1180G>A
NM_001408469.1:c.1180G>A
NM_001408470.1:c.1180G>A
NM_001408472.1:c.1324G>A
NM_001408473.1:c.1321G>A
NM_001408474.1:c.1126G>A
NM_001408475.1:c.1123G>A
NM_001408476.1:c.1123G>A
NM_001408478.1:c.1117G>A
NM_001408479.1:c.1117G>A
NM_001408480.1:c.1117G>A
NM_001408481.1:c.1114G>A
NM_001408482.1:c.1114G>A
NM_001408483.1:c.1114G>A
NM_001408484.1:c.1114G>A
NM_001408485.1:c.1114G>A
NM_001408489.1:c.1114G>A
NM_001408490.1:c.1114G>A
NM_001408491.1:c.1114G>A
NM_001408492.1:c.1111G>A
NM_001408493.1:c.1111G>A
NM_001408494.1:c.1087G>A
NM_001408495.1:c.1081G>A
NM_001408496.1:c.1063G>A
NM_001408497.1:c.1063G>A
NM_001408498.1:c.1063G>A
NM_001408499.1:c.1063G>A
NM_001408500.1:c.1063G>A
NM_001408501.1:c.1063G>A
NM_001408502.1:c.1060G>A
NM_001408503.1:c.1060G>A
NM_001408504.1:c.1060G>A
NM_001408505.1:c.1057G>A
NM_001408506.1:c.1000G>A
NM_001408507.1:c.997G>A
NM_001408508.1:c.988G>A
NM_001408509.1:c.985G>A
NM_001408510.1:c.946G>A
NM_001408511.1:c.943G>A
NM_001408512.1:c.823G>A
NM_007294.4:c.4636G>AMANE SELECT
NM_007297.4:c.4495G>A
NM_007298.4:c.1324G>A
NM_007299.4:c.1324G>A
NM_007300.4:c.4699G>A
NM_007304.2:c.1324G>A
NP_001394500.1:p.Asp1475Asn
NP_001394510.1:p.Asp1568Asn
NP_001394511.1:p.Asp1568Asn
NP_001394512.1:p.Asp1567Asn
NP_001394514.1:p.Asp1567Asn
NP_001394516.1:p.Asp1567Asn
NP_001394519.1:p.Asp1566Asn
NP_001394520.1:p.Asp1566Asn
NP_001394522.1:p.Asp1546Asn
NP_001394523.1:p.Asp1546Asn
NP_001394525.1:p.Asp1546Asn
NP_001394526.1:p.Asp1546Asn
NP_001394527.1:p.Asp1546Asn
NP_001394531.1:p.Asp1546Asn
NP_001394532.1:p.Asp1546Asn
NP_001394534.1:p.Asp1546Asn
NP_001394539.1:p.Asp1545Asn
NP_001394540.1:p.Asp1545Asn
NP_001394541.1:p.Asp1545Asn
NP_001394542.1:p.Asp1545Asn
NP_001394543.1:p.Asp1545Asn
NP_001394544.1:p.Asp1545Asn
NP_001394545.1:p.Asp1545Asn
NP_001394546.1:p.Asp1545Asn
NP_001394547.1:p.Asp1545Asn
NP_001394548.1:p.Asp1545Asn
NP_001394549.1:p.Asp1545Asn
NP_001394550.1:p.Asp1545Asn
NP_001394551.1:p.Asp1545Asn
NP_001394552.1:p.Asp1545Asn
NP_001394553.1:p.Asp1545Asn
NP_001394554.1:p.Asp1545Asn
NP_001394555.1:p.Asp1545Asn
NP_001394556.1:p.Asp1544Asn
NP_001394557.1:p.Asp1544Asn
NP_001394558.1:p.Asp1544Asn
NP_001394559.1:p.Asp1544Asn
NP_001394560.1:p.Asp1544Asn
NP_001394561.1:p.Asp1544Asn
NP_001394562.1:p.Asp1544Asn
NP_001394563.1:p.Asp1544Asn
NP_001394564.1:p.Asp1544Asn
NP_001394565.1:p.Asp1544Asn
NP_001394566.1:p.Asp1544Asn
NP_001394567.1:p.Asp1544Asn
NP_001394568.1:p.Asp1544Asn
NP_001394569.1:p.Asp1544Asn
NP_001394570.1:p.Asp1544Asn
NP_001394571.1:p.Asp1544Asn
NP_001394573.1:p.Asp1543Asn
NP_001394574.1:p.Asp1543Asn
NP_001394575.1:p.Asp1542Asn
NP_001394576.1:p.Asp1541Asn
NP_001394577.1:p.Asp1527Asn
NP_001394578.1:p.Asp1526Asn
NP_001394581.1:p.Asp1546Asn
NP_001394582.1:p.Asp1520Asn
NP_001394583.1:p.Asp1520Asn
NP_001394584.1:p.Asp1520Asn
NP_001394585.1:p.Asp1519Asn
NP_001394586.1:p.Asp1519Asn
NP_001394587.1:p.Asp1519Asn
NP_001394588.1:p.Asp1518Asn
NP_001394589.1:p.Asp1518Asn
NP_001394590.1:p.Asp1518Asn
NP_001394591.1:p.Asp1518Asn
NP_001394592.1:p.Asp1518Asn
NP_001394593.1:p.Asp1505Asn
NP_001394594.1:p.Asp1505Asn
NP_001394595.1:p.Asp1505Asn
NP_001394596.1:p.Asp1505Asn
NP_001394597.1:p.Asp1505Asn
NP_001394598.1:p.Asp1505Asn
NP_001394599.1:p.Asp1504Asn
NP_001394600.1:p.Asp1504Asn
NP_001394601.1:p.Asp1504Asn
NP_001394602.1:p.Asp1504Asn
NP_001394603.1:p.Asp1504Asn
NP_001394604.1:p.Asp1504Asn
NP_001394605.1:p.Asp1504Asn
NP_001394606.1:p.Asp1504Asn
NP_001394607.1:p.Asp1504Asn
NP_001394608.1:p.Asp1504Asn
NP_001394609.1:p.Asp1504Asn
NP_001394610.1:p.Asp1503Asn
NP_001394611.1:p.Asp1503Asn
NP_001394612.1:p.Asp1503Asn
NP_001394613.1:p.Asp1546Asn
NP_001394614.1:p.Asp1503Asn
NP_001394615.1:p.Asp1503Asn
NP_001394616.1:p.Asp1503Asn
NP_001394617.1:p.Asp1503Asn
NP_001394618.1:p.Asp1503Asn
NP_001394619.1:p.Asp1502Asn
NP_001394620.1:p.Asp1502Asn
NP_001394621.1:p.Asp1499Asn
NP_001394623.1:p.Asp1499Asn
NP_001394624.1:p.Asp1499Asn
NP_001394625.1:p.Asp1499Asn
NP_001394626.1:p.Asp1499Asn
NP_001394627.1:p.Asp1499Asn
NP_001394653.1:p.Asp1499Asn
NP_001394654.1:p.Asp1499Asn
NP_001394655.1:p.Asp1499Asn
NP_001394656.1:p.Asp1499Asn
NP_001394657.1:p.Asp1499Asn
NP_001394658.1:p.Asp1499Asn
NP_001394659.1:p.Asp1499Asn
NP_001394660.1:p.Asp1499Asn
NP_001394661.1:p.Asp1498Asn
NP_001394662.1:p.Asp1498Asn
NP_001394663.1:p.Asp1498Asn
NP_001394664.1:p.Asp1498Asn
NP_001394665.1:p.Asp1498Asn
NP_001394666.1:p.Asp1498Asn
NP_001394667.1:p.Asp1498Asn
NP_001394668.1:p.Asp1498Asn
NP_001394669.1:p.Asp1498Asn
NP_001394670.1:p.Asp1498Asn
NP_001394671.1:p.Asp1498Asn
NP_001394672.1:p.Asp1498Asn
NP_001394673.1:p.Asp1498Asn
NP_001394674.1:p.Asp1498Asn
NP_001394675.1:p.Asp1498Asn
NP_001394676.1:p.Asp1498Asn
NP_001394677.1:p.Asp1498Asn
NP_001394678.1:p.Asp1498Asn
NP_001394679.1:p.Asp1498Asn
NP_001394680.1:p.Asp1498Asn
NP_001394681.1:p.Asp1498Asn
NP_001394767.1:p.Asp1497Asn
NP_001394768.1:p.Asp1497Asn
NP_001394770.1:p.Asp1497Asn
NP_001394771.1:p.Asp1497Asn
NP_001394772.1:p.Asp1497Asn
NP_001394773.1:p.Asp1497Asn
NP_001394774.1:p.Asp1497Asn
NP_001394775.1:p.Asp1497Asn
NP_001394776.1:p.Asp1497Asn
NP_001394777.1:p.Asp1497Asn
NP_001394778.1:p.Asp1497Asn
NP_001394779.1:p.Asp1497Asn
NP_001394780.1:p.Asp1497Asn
NP_001394781.1:p.Asp1497Asn
NP_001394782.1:p.Asp1497Asn
NP_001394783.1:p.Asp1546Asn
NP_001394787.1:p.Asp1545Asn
NP_001394788.1:p.Asp1545Asn
NP_001394789.1:p.Asp1545Asn
NP_001394790.1:p.Asp1544Asn
NP_001394791.1:p.Asp1479Asn
NP_001394792.1:p.Asp1504Asn
NP_001394803.1:p.Asp1477Asn
NP_001394804.1:p.Asp1477Asn
NP_001394808.1:p.Asp1476Asn
NP_001394810.1:p.Asp1476Asn
NP_001394811.1:p.Asp1476Asn
NP_001394813.1:p.Asp1476Asn
NP_001394814.1:p.Asp1476Asn
NP_001394815.1:p.Asp1476Asn
NP_001394816.1:p.Asp1476Asn
NP_001394818.1:p.Asp1476Asn
NP_001394823.1:p.Asp1475Asn
NP_001394824.1:p.Asp1475Asn
NP_001394825.1:p.Asp1475Asn
NP_001394826.1:p.Asp1475Asn
NP_001394827.1:p.Asp1475Asn
NP_001394828.1:p.Asp1475Asn
NP_001394829.1:p.Asp1475Asn
NP_001394831.1:p.Asp1475Asn
NP_001394833.1:p.Asp1475Asn
NP_001394835.1:p.Asp1475Asn
NP_001394836.1:p.Asp1475Asn
NP_001394837.1:p.Asp1475Asn
NP_001394838.1:p.Asp1475Asn
NP_001394839.1:p.Asp1475Asn
NP_001394844.1:p.Asp1474Asn
NP_001394845.1:p.Asp1474Asn
NP_001394846.1:p.Asp1474Asn
NP_001394847.1:p.Asp1474Asn
NP_001394848.1:p.Asp1505Asn
NP_001394849.1:p.Asp1458Asn
NP_001394850.1:p.Asp1458Asn
NP_001394851.1:p.Asp1458Asn
NP_001394852.1:p.Asp1458Asn
NP_001394853.1:p.Asp1458Asn
NP_001394854.1:p.Asp1458Asn
NP_001394855.1:p.Asp1458Asn
NP_001394856.1:p.Asp1457Asn
NP_001394857.1:p.Asp1457Asn
NP_001394858.1:p.Asp1457Asn
NP_001394859.1:p.Asp1457Asn
NP_001394860.1:p.Asp1457Asn
NP_001394861.1:p.Asp1457Asn
NP_001394862.1:p.Asp1457Asn
NP_001394863.1:p.Asp1456Asn
NP_001394864.1:p.Asp1456Asn
NP_001394865.1:p.Asp1456Asn
NP_001394866.1:p.Asp1505Asn
NP_001394867.1:p.Asp1505Asn
NP_001394868.1:p.Asp1504Asn
NP_001394869.1:p.Asp1504Asn
NP_001394870.1:p.Asp1503Asn
NP_001394871.1:p.Asp1499Asn
NP_001394872.1:p.Asp1498Asn
NP_001394873.1:p.Asp1498Asn
NP_001394874.1:p.Asp1498Asn
NP_001394875.1:p.Asp1435Asn
NP_001394876.1:p.Asp1435Asn
NP_001394877.1:p.Asp1435Asn
NP_001394878.1:p.Asp1435Asn
NP_001394879.1:p.Asp1434Asn
NP_001394880.1:p.Asp1434Asn
NP_001394881.1:p.Asp1434Asn
NP_001394882.1:p.Asp1434Asn
NP_001394883.1:p.Asp1434Asn
NP_001394884.1:p.Asp1434Asn
NP_001394885.1:p.Asp1433Asn
NP_001394886.1:p.Asp1433Asn
NP_001394887.1:p.Asp1433Asn
NP_001394888.1:p.Asp1419Asn
NP_001394889.1:p.Asp1418Asn
NP_001394891.1:p.Asp1418Asn
NP_001394892.1:p.Asp1417Asn
NP_001394894.1:p.Asp1377Asn
NP_001394895.1:p.Asp1250Asn
NP_001394896.1:p.Asp1249Asn
NP_001394897.1:p.Asp678Asn
NP_001394898.1:p.Asp677Asn
NP_001394899.1:p.Asp465Asn
NP_001394900.1:p.Asp465Asn
NP_001394901.1:p.Asp464Asn
NP_001394902.1:p.Asp443Asn
NP_001394903.1:p.Asp443Asn
NP_001394904.1:p.Asp443Asn
NP_001394905.1:p.Asp443Asn
NP_001394906.1:p.Asp443Asn
NP_001394907.1:p.Asp443Asn
NP_001394908.1:p.Asp442Asn
NP_001394909.1:p.Asp442Asn
NP_001394910.1:p.Asp442Asn
NP_001394911.1:p.Asp442Asn
NP_001394912.1:p.Asp442Asn
NP_001394913.1:p.Asp442Asn
NP_001394914.1:p.Asp442Asn
NP_001394915.1:p.Asp442Asn
NP_001394919.1:p.Asp442Asn
NP_001394920.1:p.Asp442Asn
NP_001394921.1:p.Asp442Asn
NP_001394922.1:p.Asp442Asn
NP_001395321.1:p.Asp441Asn
NP_001395325.1:p.Asp441Asn
NP_001395326.1:p.Asp441Asn
NP_001395327.1:p.Asp441Asn
NP_001395328.1:p.Asp441Asn
NP_001395329.1:p.Asp441Asn
NP_001395330.1:p.Asp441Asn
NP_001395331.1:p.Asp441Asn
NP_001395332.1:p.Asp441Asn
NP_001395333.1:p.Asp441Asn
NP_001395335.1:p.Asp440Asn
NP_001395336.1:p.Asp440Asn
NP_001395337.1:p.Asp440Asn
NP_001395338.1:p.Asp439Asn
NP_001395339.1:p.Asp418Asn
NP_001395340.1:p.Asp417Asn
NP_001395341.1:p.Asp416Asn
NP_001395342.1:p.Asp416Asn
NP_001395343.1:p.Asp416Asn
NP_001395344.1:p.Asp416Asn
NP_001395345.1:p.Asp416Asn
NP_001395347.1:p.Asp404Asn
NP_001395348.1:p.Asp404Asn
NP_001395349.1:p.Asp404Asn
NP_001395350.1:p.Asp403Asn
NP_001395351.1:p.Asp403Asn
NP_001395352.1:p.Asp403Asn
NP_001395353.1:p.Asp403Asn
NP_001395354.1:p.Asp402Asn
NP_001395355.1:p.Asp402Asn
NP_001395356.1:p.Asp402Asn
NP_001395357.1:p.Asp402Asn
NP_001395358.1:p.Asp402Asn
NP_001395359.1:p.Asp402Asn
NP_001395360.1:p.Asp402Asn
NP_001395361.1:p.Asp401Asn
NP_001395362.1:p.Asp401Asn
NP_001395363.1:p.Asp401Asn
NP_001395364.1:p.Asp401Asn
NP_001395365.1:p.Asp401Asn
NP_001395366.1:p.Asp401Asn
NP_001395367.1:p.Asp401Asn
NP_001395368.1:p.Asp401Asn
NP_001395369.1:p.Asp401Asn
NP_001395370.1:p.Asp401Asn
NP_001395371.1:p.Asp401Asn
NP_001395372.1:p.Asp401Asn
NP_001395373.1:p.Asp401Asn
NP_001395374.1:p.Asp400Asn
NP_001395375.1:p.Asp400Asn
NP_001395376.1:p.Asp400Asn
NP_001395377.1:p.Asp400Asn
NP_001395379.1:p.Asp400Asn
NP_001395380.1:p.Asp398Asn
NP_001395381.1:p.Asp396Asn
NP_001395382.1:p.Asp396Asn
NP_001395383.1:p.Asp396Asn
NP_001395384.1:p.Asp396Asn
NP_001395385.1:p.Asp396Asn
NP_001395386.1:p.Asp396Asn
NP_001395387.1:p.Asp395Asn
NP_001395388.1:p.Asp395Asn
NP_001395389.1:p.Asp395Asn
NP_001395390.1:p.Asp395Asn
NP_001395391.1:p.Asp395Asn
NP_001395392.1:p.Asp395Asn
NP_001395393.1:p.Asp395Asn
NP_001395394.1:p.Asp395Asn
NP_001395395.1:p.Asp395Asn
NP_001395396.1:p.Asp395Asn
NP_001395397.1:p.Asp394Asn
NP_001395398.1:p.Asp394Asn
NP_001395399.1:p.Asp394Asn
NP_001395401.1:p.Asp442Asn
NP_001395402.1:p.Asp441Asn
NP_001395403.1:p.Asp376Asn
NP_001395404.1:p.Asp375Asn
NP_001395405.1:p.Asp375Asn
NP_001395407.1:p.Asp373Asn
NP_001395408.1:p.Asp373Asn
NP_001395409.1:p.Asp373Asn
NP_001395410.1:p.Asp372Asn
NP_001395411.1:p.Asp372Asn
NP_001395412.1:p.Asp372Asn
NP_001395413.1:p.Asp372Asn
NP_001395414.1:p.Asp372Asn
NP_001395418.1:p.Asp372Asn
NP_001395419.1:p.Asp372Asn
NP_001395420.1:p.Asp372Asn
NP_001395421.1:p.Asp371Asn
NP_001395422.1:p.Asp371Asn
NP_001395423.1:p.Asp363Asn
NP_001395424.1:p.Asp361Asn
NP_001395425.1:p.Asp355Asn
NP_001395426.1:p.Asp355Asn
NP_001395427.1:p.Asp355Asn
NP_001395428.1:p.Asp355Asn
NP_001395429.1:p.Asp355Asn
NP_001395430.1:p.Asp355Asn
NP_001395431.1:p.Asp354Asn
NP_001395432.1:p.Asp354Asn
NP_001395433.1:p.Asp354Asn
NP_001395434.1:p.Asp353Asn
NP_001395435.1:p.Asp334Asn
NP_001395436.1:p.Asp333Asn
NP_001395437.1:p.Asp330Asn
NP_001395438.1:p.Asp329Asn
NP_001395439.1:p.Asp316Asn
NP_001395440.1:p.Asp315Asn
NP_001395441.1:p.Asp275Asn
NP_009225.1:p.Asp1546Asn
NP_009225.1:p.Asp1546Asn
NP_009228.2:p.Asp1499Asn
NP_009229.2:p.Asp442Asn
NP_009229.2:p.Asp442Asn
NP_009230.2:p.Asp442Asn
NP_009231.2:p.Asp1567Asn
NP_009235.2:p.Asp442Asn
LRG_292t1:c.4636G>A
LRG_292:g.143614G>A
LRG_292p1:p.Asp1546Asn
NC_000017.10:g.41226387C>T
NM_007294.3:c.4636G>A
NM_007294.4:c.4636G>A
NM_007298.3:c.1324G>A
NM_007299.3:c.1324G>A
NM_007300.3:c.4699G>A
NR_027676.2:n.4813G>A
U14680.1:n.4755G>A
p.D1546N

Protein change:

D1249N

Links:

BRCA1-HCI: BRCA1_00022; dbSNP: rs28897691

NCBI 1000 Genomes Browser:

rs28897691

Molecular consequence:

NM_001407571.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407581.1:c.4702G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407582.1:c.4702G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407583.1:c.4699G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407585.1:c.4699G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407587.1:c.4699G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407590.1:c.4696G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407591.1:c.4696G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407593.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407594.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407596.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407597.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407598.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407602.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407603.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407605.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407610.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407611.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407612.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407613.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407614.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407615.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407616.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407617.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407618.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407619.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407620.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407621.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407622.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407623.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407624.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407625.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407626.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407627.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407628.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407629.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407630.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407631.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407632.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407633.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407634.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407635.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407636.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407637.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407638.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407639.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407640.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407641.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407642.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407644.1:c.4627G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407645.1:c.4627G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407646.1:c.4624G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407647.1:c.4621G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407648.1:c.4579G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407649.1:c.4576G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407652.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407653.1:c.4558G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407654.1:c.4558G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407655.1:c.4558G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407656.1:c.4555G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407657.1:c.4555G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407658.1:c.4555G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407659.1:c.4552G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407660.1:c.4552G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407661.1:c.4552G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407662.1:c.4552G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407663.1:c.4552G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407664.1:c.4513G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407665.1:c.4513G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407666.1:c.4513G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407667.1:c.4513G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407668.1:c.4513G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407669.1:c.4513G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407670.1:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407671.1:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407672.1:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407673.1:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407674.1:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407675.1:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407676.1:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407677.1:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407678.1:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407679.1:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407680.1:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407681.1:c.4507G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407682.1:c.4507G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407683.1:c.4507G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407684.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407685.1:c.4507G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407686.1:c.4507G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407687.1:c.4507G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407688.1:c.4507G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407689.1:c.4507G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407690.1:c.4504G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407691.1:c.4504G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407692.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407694.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407695.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407696.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407697.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407698.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407724.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407725.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407726.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407727.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407728.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407729.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407730.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407731.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407732.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407733.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407734.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407735.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407736.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407737.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407738.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407739.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407740.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407741.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407742.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407743.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407744.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407745.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407746.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407747.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407748.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407749.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407750.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407751.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407752.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407838.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407839.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407841.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407842.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407843.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407844.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407845.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407846.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407847.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407848.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407849.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407850.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407851.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407852.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407853.1:c.4489G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407854.1:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407858.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407859.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407860.1:c.4633G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407861.1:c.4630G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407862.1:c.4435G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407863.1:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407874.1:c.4429G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407875.1:c.4429G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407879.1:c.4426G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407881.1:c.4426G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407882.1:c.4426G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407884.1:c.4426G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407885.1:c.4426G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407886.1:c.4426G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407887.1:c.4426G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407889.1:c.4426G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407894.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407895.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407896.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407897.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407898.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407899.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407900.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407902.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407904.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407906.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407907.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407908.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407909.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407910.1:c.4423G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407915.1:c.4420G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407916.1:c.4420G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407917.1:c.4420G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407918.1:c.4420G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407919.1:c.4513G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407920.1:c.4372G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407921.1:c.4372G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407922.1:c.4372G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407923.1:c.4372G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407924.1:c.4372G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407925.1:c.4372G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407926.1:c.4372G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407927.1:c.4369G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407928.1:c.4369G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407929.1:c.4369G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407930.1:c.4369G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407931.1:c.4369G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407932.1:c.4369G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407933.1:c.4369G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407934.1:c.4366G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407935.1:c.4366G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407936.1:c.4366G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407937.1:c.4513G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407938.1:c.4513G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407939.1:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407940.1:c.4510G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407941.1:c.4507G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407942.1:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407943.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407944.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407945.1:c.4492G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407946.1:c.4303G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407947.1:c.4303G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407948.1:c.4303G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407949.1:c.4303G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407950.1:c.4300G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407951.1:c.4300G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407952.1:c.4300G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407953.1:c.4300G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407954.1:c.4300G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407955.1:c.4300G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407956.1:c.4297G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407957.1:c.4297G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407958.1:c.4297G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407959.1:c.4255G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407960.1:c.4252G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407962.1:c.4252G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407963.1:c.4249G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407965.1:c.4129G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407966.1:c.3748G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407967.1:c.3745G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407968.1:c.2032G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407969.1:c.2029G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407970.1:c.1393G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407971.1:c.1393G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407972.1:c.1390G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407973.1:c.1327G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407974.1:c.1327G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407975.1:c.1327G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407976.1:c.1327G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407977.1:c.1327G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407978.1:c.1327G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407979.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407980.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407981.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407982.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407983.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407984.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407985.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407986.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407990.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407991.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407992.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001407993.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408392.1:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408396.1:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408397.1:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408398.1:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408399.1:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408400.1:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408401.1:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408402.1:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408403.1:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408404.1:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408406.1:c.1318G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408407.1:c.1318G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408408.1:c.1318G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408409.1:c.1315G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408410.1:c.1252G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408411.1:c.1249G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408412.1:c.1246G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408413.1:c.1246G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408414.1:c.1246G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408415.1:c.1246G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408416.1:c.1246G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408418.1:c.1210G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408419.1:c.1210G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408420.1:c.1210G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408421.1:c.1207G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408422.1:c.1207G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408423.1:c.1207G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408424.1:c.1207G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408425.1:c.1204G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408426.1:c.1204G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408427.1:c.1204G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408428.1:c.1204G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408429.1:c.1204G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408430.1:c.1204G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408431.1:c.1204G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408432.1:c.1201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408433.1:c.1201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408434.1:c.1201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408435.1:c.1201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408436.1:c.1201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408437.1:c.1201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408438.1:c.1201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408439.1:c.1201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408440.1:c.1201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408441.1:c.1201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408442.1:c.1201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408443.1:c.1201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408444.1:c.1201G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408445.1:c.1198G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408446.1:c.1198G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408447.1:c.1198G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408448.1:c.1198G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408450.1:c.1198G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408451.1:c.1192G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408452.1:c.1186G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408453.1:c.1186G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408454.1:c.1186G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408455.1:c.1186G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408456.1:c.1186G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408457.1:c.1186G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408458.1:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408459.1:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408460.1:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408461.1:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408462.1:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408463.1:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408464.1:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408465.1:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408466.1:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408467.1:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408468.1:c.1180G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408469.1:c.1180G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408470.1:c.1180G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408472.1:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408473.1:c.1321G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408474.1:c.1126G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408475.1:c.1123G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408476.1:c.1123G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408478.1:c.1117G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408479.1:c.1117G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408480.1:c.1117G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408481.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408482.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408483.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408484.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408485.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408489.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408490.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408491.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408492.1:c.1111G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408493.1:c.1111G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408494.1:c.1087G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408495.1:c.1081G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408496.1:c.1063G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408497.1:c.1063G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408498.1:c.1063G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408499.1:c.1063G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408500.1:c.1063G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408501.1:c.1063G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408502.1:c.1060G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408503.1:c.1060G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408504.1:c.1060G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408505.1:c.1057G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408506.1:c.1000G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408507.1:c.997G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408508.1:c.988G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408509.1:c.985G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408510.1:c.946G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408511.1:c.943G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001408512.1:c.823G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007294.4:c.4636G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007297.4:c.4495G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007298.4:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007299.4:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007300.4:c.4699G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007304.2:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_027676.2:n.4813G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000145135	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Uncertain significance (May 29, 2002)	germline	clinical testing
SCV000220947	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Benign (Dec 11, 2014)	unknown	literature only	PubMed (9) [See all records that cite these PMIDs] 15235020, 17308087, 12402332, 16014699, 18992264, 21990134, 21156238, 20104584, 22713736 Counsyl Autosomal Dominant Disease Classification criteria (2015), Citation Link,
SCV000244364	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Benign (Aug 10, 2015)	germline	curation	PubMed (1) [See all records that cite this PMID] ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000743391	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus	criteria provided, single submitter (ACGS Guidelines, 2013)	Benign (Oct 9, 2014)	germline	clinical testing	Citation Link,
SCV000744611	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus	criteria provided, single submitter (ACGS Guidelines, 2013)	Benign (May 31, 2017)	germline	clinical testing	Citation Link,
SCV001280757	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Apr 27, 2017)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 16014699, 17308087, 22713736, 21156238, 12402332, 15235020 Citation Link,
SCV001429384	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 7, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004016781	KCCC/NGS Laboratory, Kuwait Cancer Control Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Jul 7, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004243978	BRCAlab, Lund University	no assertion criteria provided	Benign (Mar 2, 2020)	germline	clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	14	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing, curation
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	literature only
Ashkenazi	germline	yes	4	not provided	not provided	not provided	not provided	clinical testing
Ashkenazi, Central/Eastern European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Caucasian	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Lebanese	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Near Eastern	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
Near Eastern, Saudi Arabia	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Non Jewish	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European	germline	yes	6	not provided	not provided	not provided	not provided	clinical testing
Western European, Northern European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1.

Carvalho M, Pino MA, Karchin R, Beddor J, Godinho-Netto M, Mesquita RD, Rodarte RS, Vaz DC, Monteiro VA, Manoukian S, Colombo M, Ripamonti CB, Rosenquist R, Suthers G, Borg A, Radice P, Grist SA, Monteiro AN, Billack B.

Mutat Res. 2009 Jan 15;660(1-2):1-11. doi: 10.1016/j.mrfmmm.2008.09.017. Epub 2008 Oct 17.

PubMed [citation]

PMID:: 18992264
PMCID:: PMC2682550

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A, Haile RW, Malone KE, Capanu M, Diep A, Törngren T, Teraoka S, Begg CB, Thomas DC, Concannon P, Mellemkjaer L, Bernstein L, Tellhed L, Xue S, Olson ER, Liang X, Dolle J, Børresen-Dale AL, Bernstein JL.

Hum Mutat. 2010 Mar;31(3):E1200-40. doi: 10.1002/humu.21202.

PubMed [citation]

PMID:: 20104584
PMCID:: PMC2928257

See all PubMed Citations (10)

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145135.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	10	not provided	not provided	clinical testing	not provided
2	not provided	2	not provided	not provided	clinical testing	not provided
3	not provided	1	not provided	not provided	clinical testing	not provided
4	Ashkenazi	4	not provided	not provided	clinical testing	not provided
5	Ashkenazi, Central/Eastern European	1	not provided	not provided	clinical testing	not provided
6	Caucasian	1	not provided	not provided	clinical testing	not provided
7	Lebanese	1	not provided	not provided	clinical testing	not provided
8	Near Eastern	2	not provided	not provided	clinical testing	not provided
9	Near Eastern, Saudi Arabia	1	not provided	not provided	clinical testing	not provided
10	Non Jewish	1	not provided	not provided	clinical testing	not provided
11	Western European	6	not provided	not provided	clinical testing	not provided
12	Western European, Northern European	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		10	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
4	germline	yes	not provided	not provided	not provided		4	not provided	not provided	not provided
5	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
6	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
7	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
8	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
9	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
10	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
11	germline	yes	not provided	not provided	not provided		6	not provided	not provided	not provided
12	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Counsyl, SCV000220947.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (9)

#	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 Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000244364.1

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

Description

IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.000173

#	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 Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV000743391.1

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

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV000744611.1

#	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 Illumina Laboratory Services, Illumina, SCV001280757.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#	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 of Human Genetics, University of Leipzig Medical Center, SCV001429384.1

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

From KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV004016781.1

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

From BRCAlab, Lund University, SCV004243978.1

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

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

Last Updated: Oct 8, 2024

Relating variation to medicine