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 starsreviewed by expert panel
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno 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
This HGVS expression did not pass validation- 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:
- 32
Condition(s)
Assertion and evidence details
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) Counsyl Autosomal Dominant Disease Classification criteria (2015), |
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) ENIGMA BRCA1/2 Classification Criteria (2015), |
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 | |
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 | |
SCV001280757 | Illumina Laboratory Services, Illumina | criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019) | Likely benign (Apr 27, 2017) | germline | clinical testing | |
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 | |
SCV004016781 | KCCC/NGS Laboratory, Kuwait Cancer Control Center | criteria provided, single submitter (ACMG Guidelines, 2015) | Benign (Jul 7, 2023) | germline | clinical testing | |
SCV004243978 | BRCAlab, Lund University | no assertion criteria provided | Benign (Mar 2, 2020) | germline | clinical testing |
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.
- PMID:
- 18992264
- PMCID:
- PMC2682550
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.
- PMID:
- 20104584
- PMCID:
- PMC2928257
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 13, 2024