NM_007294.4(BRCA1):c.4508C>A (p.Ser1503Ter) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: May 31, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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

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

Record status:: current
Accession:: RCV000496782.17

Allele description [Variation Report for NM_007294.4(BRCA1):c.4508C>A (p.Ser1503Ter)]

NM_007294.4(BRCA1):c.4508C>A (p.Ser1503Ter)

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.4508C>A (p.Ser1503Ter)

HGVS:

NC_000017.11:g.43074498G>T
NG_005905.2:g.143486C>A
NM_001407571.1:c.4295C>A
NM_001407581.1:c.4574C>A
NM_001407582.1:c.4574C>A
NM_001407583.1:c.4571C>A
NM_001407585.1:c.4571C>A
NM_001407587.1:c.4571C>A
NM_001407590.1:c.4568C>A
NM_001407591.1:c.4568C>A
NM_001407593.1:c.4508C>A
NM_001407594.1:c.4508C>A
NM_001407596.1:c.4508C>A
NM_001407597.1:c.4508C>A
NM_001407598.1:c.4508C>A
NM_001407602.1:c.4508C>A
NM_001407603.1:c.4508C>A
NM_001407605.1:c.4508C>A
NM_001407610.1:c.4505C>A
NM_001407611.1:c.4505C>A
NM_001407612.1:c.4505C>A
NM_001407613.1:c.4505C>A
NM_001407614.1:c.4505C>A
NM_001407615.1:c.4505C>A
NM_001407616.1:c.4505C>A
NM_001407617.1:c.4505C>A
NM_001407618.1:c.4505C>A
NM_001407619.1:c.4505C>A
NM_001407620.1:c.4505C>A
NM_001407621.1:c.4505C>A
NM_001407622.1:c.4505C>A
NM_001407623.1:c.4505C>A
NM_001407624.1:c.4505C>A
NM_001407625.1:c.4505C>A
NM_001407626.1:c.4505C>A
NM_001407627.1:c.4502C>A
NM_001407628.1:c.4502C>A
NM_001407629.1:c.4502C>A
NM_001407630.1:c.4502C>A
NM_001407631.1:c.4502C>A
NM_001407632.1:c.4502C>A
NM_001407633.1:c.4502C>A
NM_001407634.1:c.4502C>A
NM_001407635.1:c.4502C>A
NM_001407636.1:c.4502C>A
NM_001407637.1:c.4502C>A
NM_001407638.1:c.4502C>A
NM_001407639.1:c.4502C>A
NM_001407640.1:c.4502C>A
NM_001407641.1:c.4502C>A
NM_001407642.1:c.4502C>A
NM_001407644.1:c.4499C>A
NM_001407645.1:c.4499C>A
NM_001407646.1:c.4496C>A
NM_001407647.1:c.4493C>A
NM_001407648.1:c.4451C>A
NM_001407649.1:c.4448C>A
NM_001407652.1:c.4508C>A
NM_001407653.1:c.4430C>A
NM_001407654.1:c.4430C>A
NM_001407655.1:c.4430C>A
NM_001407656.1:c.4427C>A
NM_001407657.1:c.4427C>A
NM_001407658.1:c.4427C>A
NM_001407659.1:c.4424C>A
NM_001407660.1:c.4424C>A
NM_001407661.1:c.4424C>A
NM_001407662.1:c.4424C>A
NM_001407663.1:c.4424C>A
NM_001407664.1:c.4385C>A
NM_001407665.1:c.4385C>A
NM_001407666.1:c.4385C>A
NM_001407667.1:c.4385C>A
NM_001407668.1:c.4385C>A
NM_001407669.1:c.4385C>A
NM_001407670.1:c.4382C>A
NM_001407671.1:c.4382C>A
NM_001407672.1:c.4382C>A
NM_001407673.1:c.4382C>A
NM_001407674.1:c.4382C>A
NM_001407675.1:c.4382C>A
NM_001407676.1:c.4382C>A
NM_001407677.1:c.4382C>A
NM_001407678.1:c.4382C>A
NM_001407679.1:c.4382C>A
NM_001407680.1:c.4382C>A
NM_001407681.1:c.4379C>A
NM_001407682.1:c.4379C>A
NM_001407683.1:c.4379C>A
NM_001407684.1:c.4508C>A
NM_001407685.1:c.4379C>A
NM_001407686.1:c.4379C>A
NM_001407687.1:c.4379C>A
NM_001407688.1:c.4379C>A
NM_001407689.1:c.4379C>A
NM_001407690.1:c.4376C>A
NM_001407691.1:c.4376C>A
NM_001407692.1:c.4367C>A
NM_001407694.1:c.4367C>A
NM_001407695.1:c.4367C>A
NM_001407696.1:c.4367C>A
NM_001407697.1:c.4367C>A
NM_001407698.1:c.4367C>A
NM_001407724.1:c.4367C>A
NM_001407725.1:c.4367C>A
NM_001407726.1:c.4367C>A
NM_001407727.1:c.4367C>A
NM_001407728.1:c.4367C>A
NM_001407729.1:c.4367C>A
NM_001407730.1:c.4367C>A
NM_001407731.1:c.4367C>A
NM_001407732.1:c.4364C>A
NM_001407733.1:c.4364C>A
NM_001407734.1:c.4364C>A
NM_001407735.1:c.4364C>A
NM_001407736.1:c.4364C>A
NM_001407737.1:c.4364C>A
NM_001407738.1:c.4364C>A
NM_001407739.1:c.4364C>A
NM_001407740.1:c.4364C>A
NM_001407741.1:c.4364C>A
NM_001407742.1:c.4364C>A
NM_001407743.1:c.4364C>A
NM_001407744.1:c.4364C>A
NM_001407745.1:c.4364C>A
NM_001407746.1:c.4364C>A
NM_001407747.1:c.4364C>A
NM_001407748.1:c.4364C>A
NM_001407749.1:c.4364C>A
NM_001407750.1:c.4364C>A
NM_001407751.1:c.4364C>A
NM_001407752.1:c.4364C>A
NM_001407838.1:c.4361C>A
NM_001407839.1:c.4361C>A
NM_001407841.1:c.4361C>A
NM_001407842.1:c.4361C>A
NM_001407843.1:c.4361C>A
NM_001407844.1:c.4361C>A
NM_001407845.1:c.4361C>A
NM_001407846.1:c.4361C>A
NM_001407847.1:c.4361C>A
NM_001407848.1:c.4361C>A
NM_001407849.1:c.4361C>A
NM_001407850.1:c.4361C>A
NM_001407851.1:c.4361C>A
NM_001407852.1:c.4361C>A
NM_001407853.1:c.4361C>A
NM_001407854.1:c.4508C>A
NM_001407858.1:c.4505C>A
NM_001407859.1:c.4505C>A
NM_001407860.1:c.4505C>A
NM_001407861.1:c.4502C>A
NM_001407862.1:c.4307C>A
NM_001407863.1:c.4382C>A
NM_001407874.1:c.4301C>A
NM_001407875.1:c.4301C>A
NM_001407879.1:c.4298C>A
NM_001407881.1:c.4298C>A
NM_001407882.1:c.4298C>A
NM_001407884.1:c.4298C>A
NM_001407885.1:c.4298C>A
NM_001407886.1:c.4298C>A
NM_001407887.1:c.4298C>A
NM_001407889.1:c.4298C>A
NM_001407894.1:c.4295C>A
NM_001407895.1:c.4295C>A
NM_001407896.1:c.4295C>A
NM_001407897.1:c.4295C>A
NM_001407898.1:c.4295C>A
NM_001407899.1:c.4295C>A
NM_001407900.1:c.4295C>A
NM_001407902.1:c.4295C>A
NM_001407904.1:c.4295C>A
NM_001407906.1:c.4295C>A
NM_001407907.1:c.4295C>A
NM_001407908.1:c.4295C>A
NM_001407909.1:c.4295C>A
NM_001407910.1:c.4295C>A
NM_001407915.1:c.4292C>A
NM_001407916.1:c.4292C>A
NM_001407917.1:c.4292C>A
NM_001407918.1:c.4292C>A
NM_001407919.1:c.4385C>A
NM_001407920.1:c.4244C>A
NM_001407921.1:c.4244C>A
NM_001407922.1:c.4244C>A
NM_001407923.1:c.4244C>A
NM_001407924.1:c.4244C>A
NM_001407925.1:c.4244C>A
NM_001407926.1:c.4244C>A
NM_001407927.1:c.4241C>A
NM_001407928.1:c.4241C>A
NM_001407929.1:c.4241C>A
NM_001407930.1:c.4241C>A
NM_001407931.1:c.4241C>A
NM_001407932.1:c.4241C>A
NM_001407933.1:c.4241C>A
NM_001407934.1:c.4238C>A
NM_001407935.1:c.4238C>A
NM_001407936.1:c.4238C>A
NM_001407937.1:c.4385C>A
NM_001407938.1:c.4385C>A
NM_001407939.1:c.4382C>A
NM_001407940.1:c.4382C>A
NM_001407941.1:c.4379C>A
NM_001407942.1:c.4367C>A
NM_001407943.1:c.4364C>A
NM_001407944.1:c.4364C>A
NM_001407945.1:c.4364C>A
NM_001407946.1:c.4175C>A
NM_001407947.1:c.4175C>A
NM_001407948.1:c.4175C>A
NM_001407949.1:c.4175C>A
NM_001407950.1:c.4172C>A
NM_001407951.1:c.4172C>A
NM_001407952.1:c.4172C>A
NM_001407953.1:c.4172C>A
NM_001407954.1:c.4172C>A
NM_001407955.1:c.4172C>A
NM_001407956.1:c.4169C>A
NM_001407957.1:c.4169C>A
NM_001407958.1:c.4169C>A
NM_001407959.1:c.4127C>A
NM_001407960.1:c.4124C>A
NM_001407962.1:c.4124C>A
NM_001407963.1:c.4121C>A
NM_001407965.1:c.4001C>A
NM_001407966.1:c.3620C>A
NM_001407967.1:c.3617C>A
NM_001407968.1:c.1904C>A
NM_001407969.1:c.1901C>A
NM_001407970.1:c.1265C>A
NM_001407971.1:c.1265C>A
NM_001407972.1:c.1262C>A
NM_001407973.1:c.1199C>A
NM_001407974.1:c.1199C>A
NM_001407975.1:c.1199C>A
NM_001407976.1:c.1199C>A
NM_001407977.1:c.1199C>A
NM_001407978.1:c.1199C>A
NM_001407979.1:c.1196C>A
NM_001407980.1:c.1196C>A
NM_001407981.1:c.1196C>A
NM_001407982.1:c.1196C>A
NM_001407983.1:c.1196C>A
NM_001407984.1:c.1196C>A
NM_001407985.1:c.1196C>A
NM_001407986.1:c.1196C>A
NM_001407990.1:c.1196C>A
NM_001407991.1:c.1196C>A
NM_001407992.1:c.1196C>A
NM_001407993.1:c.1196C>A
NM_001408392.1:c.1193C>A
NM_001408396.1:c.1193C>A
NM_001408397.1:c.1193C>A
NM_001408398.1:c.1193C>A
NM_001408399.1:c.1193C>A
NM_001408400.1:c.1193C>A
NM_001408401.1:c.1193C>A
NM_001408402.1:c.1193C>A
NM_001408403.1:c.1193C>A
NM_001408404.1:c.1193C>A
NM_001408406.1:c.1190C>A
NM_001408407.1:c.1190C>A
NM_001408408.1:c.1190C>A
NM_001408409.1:c.1187C>A
NM_001408410.1:c.1124C>A
NM_001408411.1:c.1121C>A
NM_001408412.1:c.1118C>A
NM_001408413.1:c.1118C>A
NM_001408414.1:c.1118C>A
NM_001408415.1:c.1118C>A
NM_001408416.1:c.1118C>A
NM_001408418.1:c.1082C>A
NM_001408419.1:c.1082C>A
NM_001408420.1:c.1082C>A
NM_001408421.1:c.1079C>A
NM_001408422.1:c.1079C>A
NM_001408423.1:c.1079C>A
NM_001408424.1:c.1079C>A
NM_001408425.1:c.1076C>A
NM_001408426.1:c.1076C>A
NM_001408427.1:c.1076C>A
NM_001408428.1:c.1076C>A
NM_001408429.1:c.1076C>A
NM_001408430.1:c.1076C>A
NM_001408431.1:c.1076C>A
NM_001408432.1:c.1073C>A
NM_001408433.1:c.1073C>A
NM_001408434.1:c.1073C>A
NM_001408435.1:c.1073C>A
NM_001408436.1:c.1073C>A
NM_001408437.1:c.1073C>A
NM_001408438.1:c.1073C>A
NM_001408439.1:c.1073C>A
NM_001408440.1:c.1073C>A
NM_001408441.1:c.1073C>A
NM_001408442.1:c.1073C>A
NM_001408443.1:c.1073C>A
NM_001408444.1:c.1073C>A
NM_001408445.1:c.1070C>A
NM_001408446.1:c.1070C>A
NM_001408447.1:c.1070C>A
NM_001408448.1:c.1070C>A
NM_001408450.1:c.1070C>A
NM_001408451.1:c.1064C>A
NM_001408452.1:c.1058C>A
NM_001408453.1:c.1058C>A
NM_001408454.1:c.1058C>A
NM_001408455.1:c.1058C>A
NM_001408456.1:c.1058C>A
NM_001408457.1:c.1058C>A
NM_001408458.1:c.1055C>A
NM_001408459.1:c.1055C>A
NM_001408460.1:c.1055C>A
NM_001408461.1:c.1055C>A
NM_001408462.1:c.1055C>A
NM_001408463.1:c.1055C>A
NM_001408464.1:c.1055C>A
NM_001408465.1:c.1055C>A
NM_001408466.1:c.1055C>A
NM_001408467.1:c.1055C>A
NM_001408468.1:c.1052C>A
NM_001408469.1:c.1052C>A
NM_001408470.1:c.1052C>A
NM_001408472.1:c.1196C>A
NM_001408473.1:c.1193C>A
NM_001408474.1:c.998C>A
NM_001408475.1:c.995C>A
NM_001408476.1:c.995C>A
NM_001408478.1:c.989C>A
NM_001408479.1:c.989C>A
NM_001408480.1:c.989C>A
NM_001408481.1:c.986C>A
NM_001408482.1:c.986C>A
NM_001408483.1:c.986C>A
NM_001408484.1:c.986C>A
NM_001408485.1:c.986C>A
NM_001408489.1:c.986C>A
NM_001408490.1:c.986C>A
NM_001408491.1:c.986C>A
NM_001408492.1:c.983C>A
NM_001408493.1:c.983C>A
NM_001408494.1:c.959C>A
NM_001408495.1:c.953C>A
NM_001408496.1:c.935C>A
NM_001408497.1:c.935C>A
NM_001408498.1:c.935C>A
NM_001408499.1:c.935C>A
NM_001408500.1:c.935C>A
NM_001408501.1:c.935C>A
NM_001408502.1:c.932C>A
NM_001408503.1:c.932C>A
NM_001408504.1:c.932C>A
NM_001408505.1:c.929C>A
NM_001408506.1:c.872C>A
NM_001408507.1:c.869C>A
NM_001408508.1:c.860C>A
NM_001408509.1:c.857C>A
NM_001408510.1:c.818C>A
NM_001408511.1:c.815C>A
NM_001408512.1:c.695C>A
NM_007294.4:c.4508C>AMANE SELECT
NM_007297.4:c.4367C>A
NM_007298.4:c.1196C>A
NM_007299.4:c.1196C>A
NM_007300.4:c.4571C>A
NM_007304.2:c.1196C>A
NP_001394500.1:p.Ser1432Ter
NP_001394510.1:p.Ser1525Ter
NP_001394511.1:p.Ser1525Ter
NP_001394512.1:p.Ser1524Ter
NP_001394514.1:p.Ser1524Ter
NP_001394516.1:p.Ser1524Ter
NP_001394519.1:p.Ser1523Ter
NP_001394520.1:p.Ser1523Ter
NP_001394522.1:p.Ser1503Ter
NP_001394523.1:p.Ser1503Ter
NP_001394525.1:p.Ser1503Ter
NP_001394526.1:p.Ser1503Ter
NP_001394527.1:p.Ser1503Ter
NP_001394531.1:p.Ser1503Ter
NP_001394532.1:p.Ser1503Ter
NP_001394534.1:p.Ser1503Ter
NP_001394539.1:p.Ser1502Ter
NP_001394540.1:p.Ser1502Ter
NP_001394541.1:p.Ser1502Ter
NP_001394542.1:p.Ser1502Ter
NP_001394543.1:p.Ser1502Ter
NP_001394544.1:p.Ser1502Ter
NP_001394545.1:p.Ser1502Ter
NP_001394546.1:p.Ser1502Ter
NP_001394547.1:p.Ser1502Ter
NP_001394548.1:p.Ser1502Ter
NP_001394549.1:p.Ser1502Ter
NP_001394550.1:p.Ser1502Ter
NP_001394551.1:p.Ser1502Ter
NP_001394552.1:p.Ser1502Ter
NP_001394553.1:p.Ser1502Ter
NP_001394554.1:p.Ser1502Ter
NP_001394555.1:p.Ser1502Ter
NP_001394556.1:p.Ser1501Ter
NP_001394557.1:p.Ser1501Ter
NP_001394558.1:p.Ser1501Ter
NP_001394559.1:p.Ser1501Ter
NP_001394560.1:p.Ser1501Ter
NP_001394561.1:p.Ser1501Ter
NP_001394562.1:p.Ser1501Ter
NP_001394563.1:p.Ser1501Ter
NP_001394564.1:p.Ser1501Ter
NP_001394565.1:p.Ser1501Ter
NP_001394566.1:p.Ser1501Ter
NP_001394567.1:p.Ser1501Ter
NP_001394568.1:p.Ser1501Ter
NP_001394569.1:p.Ser1501Ter
NP_001394570.1:p.Ser1501Ter
NP_001394571.1:p.Ser1501Ter
NP_001394573.1:p.Ser1500Ter
NP_001394574.1:p.Ser1500Ter
NP_001394575.1:p.Ser1499Ter
NP_001394576.1:p.Ser1498Ter
NP_001394577.1:p.Ser1484Ter
NP_001394578.1:p.Ser1483Ter
NP_001394581.1:p.Ser1503Ter
NP_001394582.1:p.Ser1477Ter
NP_001394583.1:p.Ser1477Ter
NP_001394584.1:p.Ser1477Ter
NP_001394585.1:p.Ser1476Ter
NP_001394586.1:p.Ser1476Ter
NP_001394587.1:p.Ser1476Ter
NP_001394588.1:p.Ser1475Ter
NP_001394589.1:p.Ser1475Ter
NP_001394590.1:p.Ser1475Ter
NP_001394591.1:p.Ser1475Ter
NP_001394592.1:p.Ser1475Ter
NP_001394593.1:p.Ser1462Ter
NP_001394594.1:p.Ser1462Ter
NP_001394595.1:p.Ser1462Ter
NP_001394596.1:p.Ser1462Ter
NP_001394597.1:p.Ser1462Ter
NP_001394598.1:p.Ser1462Ter
NP_001394599.1:p.Ser1461Ter
NP_001394600.1:p.Ser1461Ter
NP_001394601.1:p.Ser1461Ter
NP_001394602.1:p.Ser1461Ter
NP_001394603.1:p.Ser1461Ter
NP_001394604.1:p.Ser1461Ter
NP_001394605.1:p.Ser1461Ter
NP_001394606.1:p.Ser1461Ter
NP_001394607.1:p.Ser1461Ter
NP_001394608.1:p.Ser1461Ter
NP_001394609.1:p.Ser1461Ter
NP_001394610.1:p.Ser1460Ter
NP_001394611.1:p.Ser1460Ter
NP_001394612.1:p.Ser1460Ter
NP_001394613.1:p.Ser1503Ter
NP_001394614.1:p.Ser1460Ter
NP_001394615.1:p.Ser1460Ter
NP_001394616.1:p.Ser1460Ter
NP_001394617.1:p.Ser1460Ter
NP_001394618.1:p.Ser1460Ter
NP_001394619.1:p.Ser1459Ter
NP_001394620.1:p.Ser1459Ter
NP_001394621.1:p.Ser1456Ter
NP_001394623.1:p.Ser1456Ter
NP_001394624.1:p.Ser1456Ter
NP_001394625.1:p.Ser1456Ter
NP_001394626.1:p.Ser1456Ter
NP_001394627.1:p.Ser1456Ter
NP_001394653.1:p.Ser1456Ter
NP_001394654.1:p.Ser1456Ter
NP_001394655.1:p.Ser1456Ter
NP_001394656.1:p.Ser1456Ter
NP_001394657.1:p.Ser1456Ter
NP_001394658.1:p.Ser1456Ter
NP_001394659.1:p.Ser1456Ter
NP_001394660.1:p.Ser1456Ter
NP_001394661.1:p.Ser1455Ter
NP_001394662.1:p.Ser1455Ter
NP_001394663.1:p.Ser1455Ter
NP_001394664.1:p.Ser1455Ter
NP_001394665.1:p.Ser1455Ter
NP_001394666.1:p.Ser1455Ter
NP_001394667.1:p.Ser1455Ter
NP_001394668.1:p.Ser1455Ter
NP_001394669.1:p.Ser1455Ter
NP_001394670.1:p.Ser1455Ter
NP_001394671.1:p.Ser1455Ter
NP_001394672.1:p.Ser1455Ter
NP_001394673.1:p.Ser1455Ter
NP_001394674.1:p.Ser1455Ter
NP_001394675.1:p.Ser1455Ter
NP_001394676.1:p.Ser1455Ter
NP_001394677.1:p.Ser1455Ter
NP_001394678.1:p.Ser1455Ter
NP_001394679.1:p.Ser1455Ter
NP_001394680.1:p.Ser1455Ter
NP_001394681.1:p.Ser1455Ter
NP_001394767.1:p.Ser1454Ter
NP_001394768.1:p.Ser1454Ter
NP_001394770.1:p.Ser1454Ter
NP_001394771.1:p.Ser1454Ter
NP_001394772.1:p.Ser1454Ter
NP_001394773.1:p.Ser1454Ter
NP_001394774.1:p.Ser1454Ter
NP_001394775.1:p.Ser1454Ter
NP_001394776.1:p.Ser1454Ter
NP_001394777.1:p.Ser1454Ter
NP_001394778.1:p.Ser1454Ter
NP_001394779.1:p.Ser1454Ter
NP_001394780.1:p.Ser1454Ter
NP_001394781.1:p.Ser1454Ter
NP_001394782.1:p.Ser1454Ter
NP_001394783.1:p.Ser1503Ter
NP_001394787.1:p.Ser1502Ter
NP_001394788.1:p.Ser1502Ter
NP_001394789.1:p.Ser1502Ter
NP_001394790.1:p.Ser1501Ter
NP_001394791.1:p.Ser1436Ter
NP_001394792.1:p.Ser1461Ter
NP_001394803.1:p.Ser1434Ter
NP_001394804.1:p.Ser1434Ter
NP_001394808.1:p.Ser1433Ter
NP_001394810.1:p.Ser1433Ter
NP_001394811.1:p.Ser1433Ter
NP_001394813.1:p.Ser1433Ter
NP_001394814.1:p.Ser1433Ter
NP_001394815.1:p.Ser1433Ter
NP_001394816.1:p.Ser1433Ter
NP_001394818.1:p.Ser1433Ter
NP_001394823.1:p.Ser1432Ter
NP_001394824.1:p.Ser1432Ter
NP_001394825.1:p.Ser1432Ter
NP_001394826.1:p.Ser1432Ter
NP_001394827.1:p.Ser1432Ter
NP_001394828.1:p.Ser1432Ter
NP_001394829.1:p.Ser1432Ter
NP_001394831.1:p.Ser1432Ter
NP_001394833.1:p.Ser1432Ter
NP_001394835.1:p.Ser1432Ter
NP_001394836.1:p.Ser1432Ter
NP_001394837.1:p.Ser1432Ter
NP_001394838.1:p.Ser1432Ter
NP_001394839.1:p.Ser1432Ter
NP_001394844.1:p.Ser1431Ter
NP_001394845.1:p.Ser1431Ter
NP_001394846.1:p.Ser1431Ter
NP_001394847.1:p.Ser1431Ter
NP_001394848.1:p.Ser1462Ter
NP_001394849.1:p.Ser1415Ter
NP_001394850.1:p.Ser1415Ter
NP_001394851.1:p.Ser1415Ter
NP_001394852.1:p.Ser1415Ter
NP_001394853.1:p.Ser1415Ter
NP_001394854.1:p.Ser1415Ter
NP_001394855.1:p.Ser1415Ter
NP_001394856.1:p.Ser1414Ter
NP_001394857.1:p.Ser1414Ter
NP_001394858.1:p.Ser1414Ter
NP_001394859.1:p.Ser1414Ter
NP_001394860.1:p.Ser1414Ter
NP_001394861.1:p.Ser1414Ter
NP_001394862.1:p.Ser1414Ter
NP_001394863.1:p.Ser1413Ter
NP_001394864.1:p.Ser1413Ter
NP_001394865.1:p.Ser1413Ter
NP_001394866.1:p.Ser1462Ter
NP_001394867.1:p.Ser1462Ter
NP_001394868.1:p.Ser1461Ter
NP_001394869.1:p.Ser1461Ter
NP_001394870.1:p.Ser1460Ter
NP_001394871.1:p.Ser1456Ter
NP_001394872.1:p.Ser1455Ter
NP_001394873.1:p.Ser1455Ter
NP_001394874.1:p.Ser1455Ter
NP_001394875.1:p.Ser1392Ter
NP_001394876.1:p.Ser1392Ter
NP_001394877.1:p.Ser1392Ter
NP_001394878.1:p.Ser1392Ter
NP_001394879.1:p.Ser1391Ter
NP_001394880.1:p.Ser1391Ter
NP_001394881.1:p.Ser1391Ter
NP_001394882.1:p.Ser1391Ter
NP_001394883.1:p.Ser1391Ter
NP_001394884.1:p.Ser1391Ter
NP_001394885.1:p.Ser1390Ter
NP_001394886.1:p.Ser1390Ter
NP_001394887.1:p.Ser1390Ter
NP_001394888.1:p.Ser1376Ter
NP_001394889.1:p.Ser1375Ter
NP_001394891.1:p.Ser1375Ter
NP_001394892.1:p.Ser1374Ter
NP_001394894.1:p.Ser1334Ter
NP_001394895.1:p.Ser1207Ter
NP_001394896.1:p.Ser1206Ter
NP_001394897.1:p.Ser635Ter
NP_001394898.1:p.Ser634Ter
NP_001394899.1:p.Ser422Ter
NP_001394900.1:p.Ser422Ter
NP_001394901.1:p.Ser421Ter
NP_001394902.1:p.Ser400Ter
NP_001394903.1:p.Ser400Ter
NP_001394904.1:p.Ser400Ter
NP_001394905.1:p.Ser400Ter
NP_001394906.1:p.Ser400Ter
NP_001394907.1:p.Ser400Ter
NP_001394908.1:p.Ser399Ter
NP_001394909.1:p.Ser399Ter
NP_001394910.1:p.Ser399Ter
NP_001394911.1:p.Ser399Ter
NP_001394912.1:p.Ser399Ter
NP_001394913.1:p.Ser399Ter
NP_001394914.1:p.Ser399Ter
NP_001394915.1:p.Ser399Ter
NP_001394919.1:p.Ser399Ter
NP_001394920.1:p.Ser399Ter
NP_001394921.1:p.Ser399Ter
NP_001394922.1:p.Ser399Ter
NP_001395321.1:p.Ser398Ter
NP_001395325.1:p.Ser398Ter
NP_001395326.1:p.Ser398Ter
NP_001395327.1:p.Ser398Ter
NP_001395328.1:p.Ser398Ter
NP_001395329.1:p.Ser398Ter
NP_001395330.1:p.Ser398Ter
NP_001395331.1:p.Ser398Ter
NP_001395332.1:p.Ser398Ter
NP_001395333.1:p.Ser398Ter
NP_001395335.1:p.Ser397Ter
NP_001395336.1:p.Ser397Ter
NP_001395337.1:p.Ser397Ter
NP_001395338.1:p.Ser396Ter
NP_001395339.1:p.Ser375Ter
NP_001395340.1:p.Ser374Ter
NP_001395341.1:p.Ser373Ter
NP_001395342.1:p.Ser373Ter
NP_001395343.1:p.Ser373Ter
NP_001395344.1:p.Ser373Ter
NP_001395345.1:p.Ser373Ter
NP_001395347.1:p.Ser361Ter
NP_001395348.1:p.Ser361Ter
NP_001395349.1:p.Ser361Ter
NP_001395350.1:p.Ser360Ter
NP_001395351.1:p.Ser360Ter
NP_001395352.1:p.Ser360Ter
NP_001395353.1:p.Ser360Ter
NP_001395354.1:p.Ser359Ter
NP_001395355.1:p.Ser359Ter
NP_001395356.1:p.Ser359Ter
NP_001395357.1:p.Ser359Ter
NP_001395358.1:p.Ser359Ter
NP_001395359.1:p.Ser359Ter
NP_001395360.1:p.Ser359Ter
NP_001395361.1:p.Ser358Ter
NP_001395362.1:p.Ser358Ter
NP_001395363.1:p.Ser358Ter
NP_001395364.1:p.Ser358Ter
NP_001395365.1:p.Ser358Ter
NP_001395366.1:p.Ser358Ter
NP_001395367.1:p.Ser358Ter
NP_001395368.1:p.Ser358Ter
NP_001395369.1:p.Ser358Ter
NP_001395370.1:p.Ser358Ter
NP_001395371.1:p.Ser358Ter
NP_001395372.1:p.Ser358Ter
NP_001395373.1:p.Ser358Ter
NP_001395374.1:p.Ser357Ter
NP_001395375.1:p.Ser357Ter
NP_001395376.1:p.Ser357Ter
NP_001395377.1:p.Ser357Ter
NP_001395379.1:p.Ser357Ter
NP_001395380.1:p.Ser355Ter
NP_001395381.1:p.Ser353Ter
NP_001395382.1:p.Ser353Ter
NP_001395383.1:p.Ser353Ter
NP_001395384.1:p.Ser353Ter
NP_001395385.1:p.Ser353Ter
NP_001395386.1:p.Ser353Ter
NP_001395387.1:p.Ser352Ter
NP_001395388.1:p.Ser352Ter
NP_001395389.1:p.Ser352Ter
NP_001395390.1:p.Ser352Ter
NP_001395391.1:p.Ser352Ter
NP_001395392.1:p.Ser352Ter
NP_001395393.1:p.Ser352Ter
NP_001395394.1:p.Ser352Ter
NP_001395395.1:p.Ser352Ter
NP_001395396.1:p.Ser352Ter
NP_001395397.1:p.Ser351Ter
NP_001395398.1:p.Ser351Ter
NP_001395399.1:p.Ser351Ter
NP_001395401.1:p.Ser399Ter
NP_001395402.1:p.Ser398Ter
NP_001395403.1:p.Ser333Ter
NP_001395404.1:p.Ser332Ter
NP_001395405.1:p.Ser332Ter
NP_001395407.1:p.Ser330Ter
NP_001395408.1:p.Ser330Ter
NP_001395409.1:p.Ser330Ter
NP_001395410.1:p.Ser329Ter
NP_001395411.1:p.Ser329Ter
NP_001395412.1:p.Ser329Ter
NP_001395413.1:p.Ser329Ter
NP_001395414.1:p.Ser329Ter
NP_001395418.1:p.Ser329Ter
NP_001395419.1:p.Ser329Ter
NP_001395420.1:p.Ser329Ter
NP_001395421.1:p.Ser328Ter
NP_001395422.1:p.Ser328Ter
NP_001395423.1:p.Ser320Ter
NP_001395424.1:p.Ser318Ter
NP_001395425.1:p.Ser312Ter
NP_001395426.1:p.Ser312Ter
NP_001395427.1:p.Ser312Ter
NP_001395428.1:p.Ser312Ter
NP_001395429.1:p.Ser312Ter
NP_001395430.1:p.Ser312Ter
NP_001395431.1:p.Ser311Ter
NP_001395432.1:p.Ser311Ter
NP_001395433.1:p.Ser311Ter
NP_001395434.1:p.Ser310Ter
NP_001395435.1:p.Ser291Ter
NP_001395436.1:p.Ser290Ter
NP_001395437.1:p.Ser287Ter
NP_001395438.1:p.Ser286Ter
NP_001395439.1:p.Ser273Ter
NP_001395440.1:p.Ser272Ter
NP_001395441.1:p.Ser232Ter
NP_009225.1:p.Ser1503Ter
NP_009225.1:p.Ser1503Ter
NP_009228.2:p.Ser1456Ter
NP_009229.2:p.Ser399Ter
NP_009229.2:p.Ser399Ter
NP_009230.2:p.Ser399Ter
NP_009231.2:p.Ser1524Ter
NP_009235.2:p.Ser399Ter
LRG_292t1:c.4508C>A
LRG_292:g.143486C>A
LRG_292p1:p.Ser1503Ter
NC_000017.10:g.41226515G>T
NM_007294.3:c.4508C>A
NM_007298.3:c.1196C>A
NR_027676.2:n.4685C>A
U14680.1:n.4627C>A
p.S1503*
p.Ser1503*

Protein change:

S1206*

Links:

dbSNP: rs80357437

NCBI 1000 Genomes Browser:

rs80357437

Molecular consequence:

NR_027676.2:n.4685C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001407571.1:c.4295C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.4574C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.4574C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.4571C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.4571C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.4571C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.4568C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.4568C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.4508C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.4508C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.4508C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.4508C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.4508C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.4508C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.4508C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.4508C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.4505C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.4505C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.4505C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.4505C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.4505C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.4505C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.4505C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.4505C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.4505C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.4505C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.4505C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.4505C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.4505C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.4505C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.4505C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.4505C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.4505C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.4502C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.4502C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.4502C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.4502C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.4502C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.4502C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.4502C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.4502C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.4502C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.4502C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.4502C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.4502C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.4502C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.4502C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.4502C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.4502C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.4499C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.4499C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.4496C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.4493C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.4451C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.4448C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.4508C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.4430C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.4430C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.4430C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.4427C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.4427C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.4427C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.4424C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.4424C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.4424C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.4424C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.4424C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.4385C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.4385C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.4385C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.4385C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.4385C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.4385C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.4382C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.4382C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.4382C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.4382C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.4382C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.4382C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.4382C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.4382C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.4382C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.4382C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.4382C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.4379C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.4379C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.4379C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.4508C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.4379C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.4379C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.4379C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.4379C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.4379C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.4376C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.4376C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.4367C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.4367C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.4367C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.4367C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.4367C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.4367C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.4367C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.4367C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.4367C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.4367C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.4367C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.4367C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.4367C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.4367C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.4364C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.4364C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.4364C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.4364C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.4364C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.4364C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.4364C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.4364C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.4364C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.4364C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.4364C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.4364C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.4364C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.4364C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.4364C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.4364C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.4364C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.4364C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.4364C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.4364C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.4364C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.4361C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.4361C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.4361C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.4361C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.4361C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.4361C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.4361C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.4361C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.4361C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.4361C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.4361C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.4361C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.4361C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.4361C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.4361C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.4508C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.4505C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.4505C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.4505C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.4502C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.4307C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.4382C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.4301C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.4301C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.4298C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.4298C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.4298C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.4298C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.4298C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.4298C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.4298C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.4298C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.4295C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.4295C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.4295C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.4295C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.4295C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.4295C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.4295C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.4295C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.4295C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.4295C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.4295C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.4295C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.4295C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.4295C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.4292C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.4292C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.4292C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.4292C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.4385C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.4244C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.4244C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.4244C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.4244C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.4244C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.4244C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.4244C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.4241C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.4241C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.4241C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.4241C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.4241C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.4241C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.4241C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.4238C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.4238C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.4238C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.4385C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.4385C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.4382C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.4382C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.4379C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407942.1:c.4367C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407943.1:c.4364C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407944.1:c.4364C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407945.1:c.4364C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.4175C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.4175C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.4175C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.4175C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.4172C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.4172C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.4172C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.4172C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.4172C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.4172C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.4169C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.4169C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.4169C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.4127C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.4124C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.4124C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.4121C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.4001C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.3620C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.3617C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407968.1:c.1904C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407969.1:c.1901C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407970.1:c.1265C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407971.1:c.1265C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407972.1:c.1262C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407973.1:c.1199C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407974.1:c.1199C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407975.1:c.1199C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407976.1:c.1199C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407977.1:c.1199C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407978.1:c.1199C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407979.1:c.1196C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407980.1:c.1196C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407981.1:c.1196C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407982.1:c.1196C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407983.1:c.1196C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407984.1:c.1196C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407985.1:c.1196C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407986.1:c.1196C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407990.1:c.1196C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407991.1:c.1196C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407992.1:c.1196C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001407993.1:c.1196C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408392.1:c.1193C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408396.1:c.1193C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408397.1:c.1193C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408398.1:c.1193C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408399.1:c.1193C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408400.1:c.1193C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408401.1:c.1193C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408402.1:c.1193C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408403.1:c.1193C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408404.1:c.1193C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408406.1:c.1190C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408407.1:c.1190C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408408.1:c.1190C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408409.1:c.1187C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408410.1:c.1124C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408411.1:c.1121C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408412.1:c.1118C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408413.1:c.1118C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408414.1:c.1118C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408415.1:c.1118C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408416.1:c.1118C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408418.1:c.1082C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408419.1:c.1082C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408420.1:c.1082C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408421.1:c.1079C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408422.1:c.1079C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408423.1:c.1079C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408424.1:c.1079C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408425.1:c.1076C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408426.1:c.1076C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408427.1:c.1076C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408428.1:c.1076C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408429.1:c.1076C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408430.1:c.1076C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408431.1:c.1076C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408432.1:c.1073C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408433.1:c.1073C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408434.1:c.1073C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408435.1:c.1073C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408436.1:c.1073C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408437.1:c.1073C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408438.1:c.1073C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408439.1:c.1073C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408440.1:c.1073C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408441.1:c.1073C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408442.1:c.1073C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408443.1:c.1073C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408444.1:c.1073C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408445.1:c.1070C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408446.1:c.1070C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408447.1:c.1070C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408448.1:c.1070C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408450.1:c.1070C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408451.1:c.1064C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408452.1:c.1058C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408453.1:c.1058C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408454.1:c.1058C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408455.1:c.1058C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408456.1:c.1058C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408457.1:c.1058C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408458.1:c.1055C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408459.1:c.1055C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408460.1:c.1055C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408461.1:c.1055C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408462.1:c.1055C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408463.1:c.1055C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408464.1:c.1055C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408465.1:c.1055C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408466.1:c.1055C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408467.1:c.1055C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408468.1:c.1052C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408469.1:c.1052C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408470.1:c.1052C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408472.1:c.1196C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408473.1:c.1193C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408474.1:c.998C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408475.1:c.995C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408476.1:c.995C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408478.1:c.989C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408479.1:c.989C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408480.1:c.989C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408481.1:c.986C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408482.1:c.986C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408483.1:c.986C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408484.1:c.986C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408485.1:c.986C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408489.1:c.986C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408490.1:c.986C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408491.1:c.986C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408492.1:c.983C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408493.1:c.983C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408494.1:c.959C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408495.1:c.953C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408496.1:c.935C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408497.1:c.935C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408498.1:c.935C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408499.1:c.935C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408500.1:c.935C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408501.1:c.935C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408502.1:c.932C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408503.1:c.932C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408504.1:c.932C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408505.1:c.929C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408506.1:c.872C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408507.1:c.869C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408508.1:c.860C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408509.1:c.857C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408510.1:c.818C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408511.1:c.815C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001408512.1:c.695C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.4508C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.4367C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_007298.4:c.1196C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_007299.4:c.1196C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.4571C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_007304.2:c.1196C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000587405	Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)	no assertion criteria provided	Pathogenic (Jan 31, 2014)	germline	research
SCV000918705	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Pathogenic (Nov 13, 2017)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 16267036, 16998791, 21702907, 12181777, 16683254 Citation Link,
SCV001584370	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (May 31, 2023)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 12181777, 16683254, 28724667, 16998791, 27553291, 20104584, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000587405

Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)

no assertion criteria provided

Pathogenic
(Jan 31, 2014)

germline

research

SCV000918705

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Pathogenic
(Nov 13, 2017)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link,

SCV001584370

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(May 31, 2023)

germline

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

Judkins T, Hendrickson BC, Deffenbaugh AM, Eliason K, Leclair B, Norton MJ, Ward BE, Pruss D, Scholl T.

Cancer Res. 2005 Nov 1;65(21):10096-103.

PubMed [citation]

PMID:: 16267036

A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

Hondow HL, Fox SB, Mitchell G, Scott RJ, Beshay V, Wong SQ; kConFab Investigators., Dobrovic A.

BMC Cancer. 2011 Jun 24;11:265. doi: 10.1186/1471-2407-11-265.

PubMed [citation]

PMID:: 21702907
PMCID:: PMC3146935

See all PubMed Citations (9)

Details of each submission

From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587405.1

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

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000918705.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

Variant summary: The BRCA1 c.4508C>A (p.Ser1503X) variant results in a premature termination codon, predicted to cause a truncated or absent BRCA1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. p.Glu1694X, p.Gln1747X and p.Ser1796X). This variant was found in 2/246080 control chromosomes (gnomAD) at a frequency of 0.0000081, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). This variant has been found in several triple negative breast cancer patients from Pakistan (Liede_2002, Rashid_2006, Rashid_2016). Multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.

#	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 Invitae, SCV001584370.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 55219). This variant is also known as 4627C>A. This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 12181777, 16683254, 16998791, 27553291, 28724667). It is commonly reported in individuals of Pakistani ancestry (PMID: 16998791, 27553291). This variant is present in population databases (rs80357437, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Ser1503*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).

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

Last Updated: Apr 15, 2024

ClinVar

Relating variation to medicine