NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Jan 17, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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

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

Record status:: current
Accession:: RCV000048263.26

Allele description [Variation Report for NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs)]

NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs)

Genes:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]

Variant type:

Duplication

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs)

HGVS:

NC_000017.11:g.43091904dup
NG_005905.2:g.126080dup
NG_087068.1:g.886dup
NM_001407571.1:c.3414dup
NM_001407581.1:c.3627dup
NM_001407582.1:c.3627dup
NM_001407583.1:c.3627dup
NM_001407585.1:c.3627dup
NM_001407587.1:c.3624dup
NM_001407590.1:c.3624dup
NM_001407591.1:c.3624dup
NM_001407593.1:c.3627dup
NM_001407594.1:c.3627dup
NM_001407596.1:c.3627dup
NM_001407597.1:c.3627dup
NM_001407598.1:c.3627dup
NM_001407602.1:c.3627dup
NM_001407603.1:c.3627dup
NM_001407605.1:c.3627dup
NM_001407610.1:c.3624dup
NM_001407611.1:c.3624dup
NM_001407612.1:c.3624dup
NM_001407613.1:c.3624dup
NM_001407614.1:c.3624dup
NM_001407615.1:c.3624dup
NM_001407616.1:c.3627dup
NM_001407617.1:c.3627dup
NM_001407618.1:c.3627dup
NM_001407619.1:c.3627dup
NM_001407620.1:c.3627dup
NM_001407621.1:c.3627dup
NM_001407622.1:c.3627dup
NM_001407623.1:c.3627dup
NM_001407624.1:c.3627dup
NM_001407625.1:c.3627dup
NM_001407626.1:c.3627dup
NM_001407627.1:c.3624dup
NM_001407628.1:c.3624dup
NM_001407629.1:c.3624dup
NM_001407630.1:c.3624dup
NM_001407631.1:c.3624dup
NM_001407632.1:c.3624dup
NM_001407633.1:c.3624dup
NM_001407634.1:c.3624dup
NM_001407635.1:c.3624dup
NM_001407636.1:c.3624dup
NM_001407637.1:c.3624dup
NM_001407638.1:c.3624dup
NM_001407639.1:c.3627dup
NM_001407640.1:c.3627dup
NM_001407641.1:c.3627dup
NM_001407642.1:c.3627dup
NM_001407644.1:c.3624dup
NM_001407645.1:c.3624dup
NM_001407646.1:c.3618dup
NM_001407647.1:c.3618dup
NM_001407648.1:c.3504dup
NM_001407649.1:c.3501dup
NM_001407652.1:c.3627dup
NM_001407653.1:c.3549dup
NM_001407654.1:c.3549dup
NM_001407655.1:c.3549dup
NM_001407656.1:c.3549dup
NM_001407657.1:c.3549dup
NM_001407658.1:c.3549dup
NM_001407659.1:c.3546dup
NM_001407660.1:c.3546dup
NM_001407661.1:c.3546dup
NM_001407662.1:c.3546dup
NM_001407663.1:c.3549dup
NM_001407664.1:c.3504dup
NM_001407665.1:c.3504dup
NM_001407666.1:c.3504dup
NM_001407667.1:c.3504dup
NM_001407668.1:c.3504dup
NM_001407669.1:c.3504dup
NM_001407670.1:c.3501dup
NM_001407671.1:c.3501dup
NM_001407672.1:c.3501dup
NM_001407673.1:c.3501dup
NM_001407674.1:c.3504dup
NM_001407675.1:c.3504dup
NM_001407676.1:c.3504dup
NM_001407677.1:c.3504dup
NM_001407678.1:c.3504dup
NM_001407679.1:c.3504dup
NM_001407680.1:c.3504dup
NM_001407681.1:c.3504dup
NM_001407682.1:c.3504dup
NM_001407683.1:c.3504dup
NM_001407684.1:c.3627dup
NM_001407685.1:c.3501dup
NM_001407686.1:c.3501dup
NM_001407687.1:c.3501dup
NM_001407688.1:c.3501dup
NM_001407689.1:c.3501dup
NM_001407690.1:c.3501dup
NM_001407691.1:c.3501dup
NM_001407692.1:c.3486dup
NM_001407694.1:c.3486dup
NM_001407695.1:c.3486dup
NM_001407696.1:c.3486dup
NM_001407697.1:c.3486dup
NM_001407698.1:c.3486dup
NM_001407724.1:c.3486dup
NM_001407725.1:c.3486dup
NM_001407726.1:c.3486dup
NM_001407727.1:c.3486dup
NM_001407728.1:c.3486dup
NM_001407729.1:c.3486dup
NM_001407730.1:c.3486dup
NM_001407731.1:c.3486dup
NM_001407732.1:c.3486dup
NM_001407733.1:c.3486dup
NM_001407734.1:c.3486dup
NM_001407735.1:c.3486dup
NM_001407736.1:c.3486dup
NM_001407737.1:c.3486dup
NM_001407738.1:c.3486dup
NM_001407739.1:c.3486dup
NM_001407740.1:c.3483dup
NM_001407741.1:c.3483dup
NM_001407742.1:c.3483dup
NM_001407743.1:c.3483dup
NM_001407744.1:c.3483dup
NM_001407745.1:c.3483dup
NM_001407746.1:c.3483dup
NM_001407747.1:c.3483dup
NM_001407748.1:c.3483dup
NM_001407749.1:c.3483dup
NM_001407750.1:c.3486dup
NM_001407751.1:c.3486dup
NM_001407752.1:c.3486dup
NM_001407838.1:c.3483dup
NM_001407839.1:c.3483dup
NM_001407841.1:c.3483dup
NM_001407842.1:c.3483dup
NM_001407843.1:c.3483dup
NM_001407844.1:c.3483dup
NM_001407845.1:c.3483dup
NM_001407846.1:c.3483dup
NM_001407847.1:c.3483dup
NM_001407848.1:c.3483dup
NM_001407849.1:c.3483dup
NM_001407850.1:c.3486dup
NM_001407851.1:c.3486dup
NM_001407852.1:c.3486dup
NM_001407853.1:c.3414dup
NM_001407854.1:c.3627dup
NM_001407858.1:c.3627dup
NM_001407859.1:c.3627dup
NM_001407860.1:c.3624dup
NM_001407861.1:c.3624dup
NM_001407862.1:c.3426dup
NM_001407863.1:c.3504dup
NM_001407874.1:c.3423dup
NM_001407875.1:c.3423dup
NM_001407879.1:c.3417dup
NM_001407881.1:c.3417dup
NM_001407882.1:c.3417dup
NM_001407884.1:c.3417dup
NM_001407885.1:c.3417dup
NM_001407886.1:c.3417dup
NM_001407887.1:c.3417dup
NM_001407889.1:c.3417dup
NM_001407894.1:c.3414dup
NM_001407895.1:c.3414dup
NM_001407896.1:c.3414dup
NM_001407897.1:c.3414dup
NM_001407898.1:c.3414dup
NM_001407899.1:c.3414dup
NM_001407900.1:c.3417dup
NM_001407902.1:c.3417dup
NM_001407904.1:c.3417dup
NM_001407906.1:c.3417dup
NM_001407907.1:c.3417dup
NM_001407908.1:c.3417dup
NM_001407909.1:c.3417dup
NM_001407910.1:c.3417dup
NM_001407915.1:c.3414dup
NM_001407916.1:c.3414dup
NM_001407917.1:c.3414dup
NM_001407918.1:c.3414dup
NM_001407919.1:c.3504dup
NM_001407920.1:c.3363dup
NM_001407921.1:c.3363dup
NM_001407922.1:c.3363dup
NM_001407923.1:c.3363dup
NM_001407924.1:c.3363dup
NM_001407925.1:c.3363dup
NM_001407926.1:c.3363dup
NM_001407927.1:c.3363dup
NM_001407928.1:c.3363dup
NM_001407929.1:c.3363dup
NM_001407930.1:c.3360dup
NM_001407931.1:c.3360dup
NM_001407932.1:c.3360dup
NM_001407933.1:c.3363dup
NM_001407934.1:c.3360dup
NM_001407935.1:c.3363dup
NM_001407936.1:c.3360dup
NM_001407937.1:c.3504dup
NM_001407938.1:c.3504dup
NM_001407939.1:c.3504dup
NM_001407940.1:c.3501dup
NM_001407941.1:c.3501dup
NM_001407942.1:c.3486dup
NM_001407943.1:c.3483dup
NM_001407944.1:c.3486dup
NM_001407945.1:c.3486dup
NM_001407946.1:c.3294dup
NM_001407947.1:c.3294dup
NM_001407948.1:c.3294dup
NM_001407949.1:c.3294dup
NM_001407950.1:c.3294dup
NM_001407951.1:c.3294dup
NM_001407952.1:c.3294dup
NM_001407953.1:c.3294dup
NM_001407954.1:c.3291dup
NM_001407955.1:c.3291dup
NM_001407956.1:c.3291dup
NM_001407957.1:c.3294dup
NM_001407958.1:c.3291dup
NM_001407959.1:c.3246dup
NM_001407960.1:c.3246dup
NM_001407962.1:c.3243dup
NM_001407963.1:c.3246dup
NM_001407964.1:c.3483dup
NM_001407965.1:c.3123dup
NM_001407966.1:c.2739dup
NM_001407967.1:c.2739dup
NM_001407968.1:c.1023dup
NM_001407969.1:c.1023dup
NM_001407970.1:c.788-872dup
NM_001407971.1:c.788-872dup
NM_001407972.1:c.785-872dup
NM_001407973.1:c.788-872dup
NM_001407974.1:c.788-872dup
NM_001407975.1:c.788-872dup
NM_001407976.1:c.788-872dup
NM_001407977.1:c.788-872dup
NM_001407978.1:c.788-872dup
NM_001407979.1:c.788-872dup
NM_001407980.1:c.788-872dup
NM_001407981.1:c.788-872dup
NM_001407982.1:c.788-872dup
NM_001407983.1:c.788-872dup
NM_001407984.1:c.785-872dup
NM_001407985.1:c.785-872dup
NM_001407986.1:c.785-872dup
NM_001407990.1:c.788-872dup
NM_001407991.1:c.785-872dup
NM_001407992.1:c.785-872dup
NM_001407993.1:c.788-872dup
NM_001408392.1:c.785-872dup
NM_001408396.1:c.785-872dup
NM_001408397.1:c.785-872dup
NM_001408398.1:c.785-872dup
NM_001408399.1:c.785-872dup
NM_001408400.1:c.785-872dup
NM_001408401.1:c.785-872dup
NM_001408402.1:c.785-872dup
NM_001408403.1:c.788-872dup
NM_001408404.1:c.788-872dup
NM_001408406.1:c.791-881dup
NM_001408407.1:c.785-872dup
NM_001408408.1:c.779-872dup
NM_001408409.1:c.710-872dup
NM_001408410.1:c.647-872dup
NM_001408411.1:c.710-872dup
NM_001408412.1:c.710-872dup
NM_001408413.1:c.707-872dup
NM_001408414.1:c.710-872dup
NM_001408415.1:c.710-872dup
NM_001408416.1:c.707-872dup
NM_001408418.1:c.671-872dup
NM_001408419.1:c.671-872dup
NM_001408420.1:c.671-872dup
NM_001408421.1:c.668-872dup
NM_001408422.1:c.671-872dup
NM_001408423.1:c.671-872dup
NM_001408424.1:c.668-872dup
NM_001408425.1:c.665-872dup
NM_001408426.1:c.665-872dup
NM_001408427.1:c.665-872dup
NM_001408428.1:c.665-872dup
NM_001408429.1:c.665-872dup
NM_001408430.1:c.665-872dup
NM_001408431.1:c.668-872dup
NM_001408432.1:c.662-872dup
NM_001408433.1:c.662-872dup
NM_001408434.1:c.662-872dup
NM_001408435.1:c.662-872dup
NM_001408436.1:c.665-872dup
NM_001408437.1:c.665-872dup
NM_001408438.1:c.665-872dup
NM_001408439.1:c.665-872dup
NM_001408440.1:c.665-872dup
NM_001408441.1:c.665-872dup
NM_001408442.1:c.665-872dup
NM_001408443.1:c.665-872dup
NM_001408444.1:c.665-872dup
NM_001408445.1:c.662-872dup
NM_001408446.1:c.662-872dup
NM_001408447.1:c.662-872dup
NM_001408448.1:c.662-872dup
NM_001408450.1:c.662-872dup
NM_001408451.1:c.653-872dup
NM_001408452.1:c.647-872dup
NM_001408453.1:c.647-872dup
NM_001408454.1:c.647-872dup
NM_001408455.1:c.647-872dup
NM_001408456.1:c.647-872dup
NM_001408457.1:c.647-872dup
NM_001408458.1:c.647-872dup
NM_001408459.1:c.647-872dup
NM_001408460.1:c.647-872dup
NM_001408461.1:c.647-872dup
NM_001408462.1:c.644-872dup
NM_001408463.1:c.644-872dup
NM_001408464.1:c.644-872dup
NM_001408465.1:c.644-872dup
NM_001408466.1:c.647-872dup
NM_001408467.1:c.647-872dup
NM_001408468.1:c.644-872dup
NM_001408469.1:c.647-872dup
NM_001408470.1:c.644-872dup
NM_001408472.1:c.788-872dup
NM_001408473.1:c.785-872dup
NM_001408474.1:c.587-872dup
NM_001408475.1:c.584-872dup
NM_001408476.1:c.587-872dup
NM_001408478.1:c.578-872dup
NM_001408479.1:c.578-872dup
NM_001408480.1:c.578-872dup
NM_001408481.1:c.578-872dup
NM_001408482.1:c.578-872dup
NM_001408483.1:c.578-872dup
NM_001408484.1:c.578-872dup
NM_001408485.1:c.578-872dup
NM_001408489.1:c.578-872dup
NM_001408490.1:c.575-872dup
NM_001408491.1:c.575-872dup
NM_001408492.1:c.578-872dup
NM_001408493.1:c.575-872dup
NM_001408494.1:c.548-872dup
NM_001408495.1:c.545-872dup
NM_001408496.1:c.524-872dup
NM_001408497.1:c.524-872dup
NM_001408498.1:c.524-872dup
NM_001408499.1:c.524-872dup
NM_001408500.1:c.524-872dup
NM_001408501.1:c.524-872dup
NM_001408502.1:c.455-872dup
NM_001408503.1:c.521-872dup
NM_001408504.1:c.521-872dup
NM_001408505.1:c.521-872dup
NM_001408506.1:c.461-872dup
NM_001408507.1:c.461-872dup
NM_001408508.1:c.452-872dup
NM_001408509.1:c.452-872dup
NM_001408510.1:c.407-872dup
NM_001408511.1:c.404-872dup
NM_001408512.1:c.284-872dup
NM_001408513.1:c.578-872dup
NM_001408514.1:c.578-872dup
NM_007294.4:c.3627dupMANE SELECT
NM_007297.4:c.3486dup
NM_007298.4:c.788-872dup
NM_007299.4:c.788-872dup
NM_007300.4:c.3627dup
NP_001394500.1:p.Glu1139fs
NP_001394510.1:p.Glu1210fs
NP_001394511.1:p.Glu1210fs
NP_001394512.1:p.Glu1210fs
NP_001394514.1:p.Glu1210fs
NP_001394516.1:p.Glu1209fs
NP_001394519.1:p.Glu1209fs
NP_001394520.1:p.Glu1209fs
NP_001394522.1:p.Glu1210fs
NP_001394523.1:p.Glu1210fs
NP_001394525.1:p.Glu1210fs
NP_001394526.1:p.Glu1210fs
NP_001394527.1:p.Glu1210fs
NP_001394531.1:p.Glu1210fs
NP_001394532.1:p.Glu1210fs
NP_001394534.1:p.Glu1210fs
NP_001394539.1:p.Glu1209fs
NP_001394540.1:p.Glu1209fs
NP_001394541.1:p.Glu1209fs
NP_001394542.1:p.Glu1209fs
NP_001394543.1:p.Glu1209fs
NP_001394544.1:p.Glu1209fs
NP_001394545.1:p.Glu1210fs
NP_001394546.1:p.Glu1210fs
NP_001394547.1:p.Glu1210fs
NP_001394548.1:p.Glu1210fs
NP_001394549.1:p.Glu1210fs
NP_001394550.1:p.Glu1210fs
NP_001394551.1:p.Glu1210fs
NP_001394552.1:p.Glu1210fs
NP_001394553.1:p.Glu1210fs
NP_001394554.1:p.Glu1210fs
NP_001394555.1:p.Glu1210fs
NP_001394556.1:p.Glu1209fs
NP_001394557.1:p.Glu1209fs
NP_001394558.1:p.Glu1209fs
NP_001394559.1:p.Glu1209fs
NP_001394560.1:p.Glu1209fs
NP_001394561.1:p.Glu1209fs
NP_001394562.1:p.Glu1209fs
NP_001394563.1:p.Glu1209fs
NP_001394564.1:p.Glu1209fs
NP_001394565.1:p.Glu1209fs
NP_001394566.1:p.Glu1209fs
NP_001394567.1:p.Glu1209fs
NP_001394568.1:p.Glu1210fs
NP_001394569.1:p.Glu1210fs
NP_001394570.1:p.Glu1210fs
NP_001394571.1:p.Glu1210fs
NP_001394573.1:p.Glu1209fs
NP_001394574.1:p.Glu1209fs
NP_001394575.1:p.Glu1207fs
NP_001394576.1:p.Glu1207fs
NP_001394577.1:p.Glu1169fs
NP_001394578.1:p.Glu1168fs
NP_001394581.1:p.Glu1210fs
NP_001394582.1:p.Glu1184fs
NP_001394583.1:p.Glu1184fs
NP_001394584.1:p.Glu1184fs
NP_001394585.1:p.Glu1184fs
NP_001394586.1:p.Glu1184fs
NP_001394587.1:p.Glu1184fs
NP_001394588.1:p.Glu1183fs
NP_001394589.1:p.Glu1183fs
NP_001394590.1:p.Glu1183fs
NP_001394591.1:p.Glu1183fs
NP_001394592.1:p.Glu1184fs
NP_001394593.1:p.Glu1169fs
NP_001394594.1:p.Glu1169fs
NP_001394595.1:p.Glu1169fs
NP_001394596.1:p.Glu1169fs
NP_001394597.1:p.Glu1169fs
NP_001394598.1:p.Glu1169fs
NP_001394599.1:p.Glu1168fs
NP_001394600.1:p.Glu1168fs
NP_001394601.1:p.Glu1168fs
NP_001394602.1:p.Glu1168fs
NP_001394603.1:p.Glu1169fs
NP_001394604.1:p.Glu1169fs
NP_001394605.1:p.Glu1169fs
NP_001394606.1:p.Glu1169fs
NP_001394607.1:p.Glu1169fs
NP_001394608.1:p.Glu1169fs
NP_001394609.1:p.Glu1169fs
NP_001394610.1:p.Glu1169fs
NP_001394611.1:p.Glu1169fs
NP_001394612.1:p.Glu1169fs
NP_001394613.1:p.Glu1210fs
NP_001394614.1:p.Glu1168fs
NP_001394615.1:p.Glu1168fs
NP_001394616.1:p.Glu1168fs
NP_001394617.1:p.Glu1168fs
NP_001394618.1:p.Glu1168fs
NP_001394619.1:p.Glu1168fs
NP_001394620.1:p.Glu1168fs
NP_001394621.1:p.Glu1163fs
NP_001394623.1:p.Glu1163fs
NP_001394624.1:p.Glu1163fs
NP_001394625.1:p.Glu1163fs
NP_001394626.1:p.Glu1163fs
NP_001394627.1:p.Glu1163fs
NP_001394653.1:p.Glu1163fs
NP_001394654.1:p.Glu1163fs
NP_001394655.1:p.Glu1163fs
NP_001394656.1:p.Glu1163fs
NP_001394657.1:p.Glu1163fs
NP_001394658.1:p.Glu1163fs
NP_001394659.1:p.Glu1163fs
NP_001394660.1:p.Glu1163fs
NP_001394661.1:p.Glu1163fs
NP_001394662.1:p.Glu1163fs
NP_001394663.1:p.Glu1163fs
NP_001394664.1:p.Glu1163fs
NP_001394665.1:p.Glu1163fs
NP_001394666.1:p.Glu1163fs
NP_001394667.1:p.Glu1163fs
NP_001394668.1:p.Glu1163fs
NP_001394669.1:p.Glu1162fs
NP_001394670.1:p.Glu1162fs
NP_001394671.1:p.Glu1162fs
NP_001394672.1:p.Glu1162fs
NP_001394673.1:p.Glu1162fs
NP_001394674.1:p.Glu1162fs
NP_001394675.1:p.Glu1162fs
NP_001394676.1:p.Glu1162fs
NP_001394677.1:p.Glu1162fs
NP_001394678.1:p.Glu1162fs
NP_001394679.1:p.Glu1163fs
NP_001394680.1:p.Glu1163fs
NP_001394681.1:p.Glu1163fs
NP_001394767.1:p.Glu1162fs
NP_001394768.1:p.Glu1162fs
NP_001394770.1:p.Glu1162fs
NP_001394771.1:p.Glu1162fs
NP_001394772.1:p.Glu1162fs
NP_001394773.1:p.Glu1162fs
NP_001394774.1:p.Glu1162fs
NP_001394775.1:p.Glu1162fs
NP_001394776.1:p.Glu1162fs
NP_001394777.1:p.Glu1162fs
NP_001394778.1:p.Glu1162fs
NP_001394779.1:p.Glu1163fs
NP_001394780.1:p.Glu1163fs
NP_001394781.1:p.Glu1163fs
NP_001394782.1:p.Glu1139fs
NP_001394783.1:p.Glu1210fs
NP_001394787.1:p.Glu1210fs
NP_001394788.1:p.Glu1210fs
NP_001394789.1:p.Glu1209fs
NP_001394790.1:p.Glu1209fs
NP_001394791.1:p.Glu1143fs
NP_001394792.1:p.Glu1169fs
NP_001394803.1:p.Glu1142fs
NP_001394804.1:p.Glu1142fs
NP_001394808.1:p.Glu1140fs
NP_001394810.1:p.Glu1140fs
NP_001394811.1:p.Glu1140fs
NP_001394813.1:p.Glu1140fs
NP_001394814.1:p.Glu1140fs
NP_001394815.1:p.Glu1140fs
NP_001394816.1:p.Glu1140fs
NP_001394818.1:p.Glu1140fs
NP_001394823.1:p.Glu1139fs
NP_001394824.1:p.Glu1139fs
NP_001394825.1:p.Glu1139fs
NP_001394826.1:p.Glu1139fs
NP_001394827.1:p.Glu1139fs
NP_001394828.1:p.Glu1139fs
NP_001394829.1:p.Glu1140fs
NP_001394831.1:p.Glu1140fs
NP_001394833.1:p.Glu1140fs
NP_001394835.1:p.Glu1140fs
NP_001394836.1:p.Glu1140fs
NP_001394837.1:p.Glu1140fs
NP_001394838.1:p.Glu1140fs
NP_001394839.1:p.Glu1140fs
NP_001394844.1:p.Glu1139fs
NP_001394845.1:p.Glu1139fs
NP_001394846.1:p.Glu1139fs
NP_001394847.1:p.Glu1139fs
NP_001394848.1:p.Glu1169fs
NP_001394849.1:p.Glu1122fs
NP_001394850.1:p.Glu1122fs
NP_001394851.1:p.Glu1122fs
NP_001394852.1:p.Glu1122fs
NP_001394853.1:p.Glu1122fs
NP_001394854.1:p.Glu1122fs
NP_001394855.1:p.Glu1122fs
NP_001394856.1:p.Glu1122fs
NP_001394857.1:p.Glu1122fs
NP_001394858.1:p.Glu1122fs
NP_001394859.1:p.Glu1121fs
NP_001394860.1:p.Glu1121fs
NP_001394861.1:p.Glu1121fs
NP_001394862.1:p.Glu1122fs
NP_001394863.1:p.Glu1121fs
NP_001394864.1:p.Glu1122fs
NP_001394865.1:p.Glu1121fs
NP_001394866.1:p.Glu1169fs
NP_001394867.1:p.Glu1169fs
NP_001394868.1:p.Glu1169fs
NP_001394869.1:p.Glu1168fs
NP_001394870.1:p.Glu1168fs
NP_001394871.1:p.Glu1163fs
NP_001394872.1:p.Glu1162fs
NP_001394873.1:p.Glu1163fs
NP_001394874.1:p.Glu1163fs
NP_001394875.1:p.Glu1099fs
NP_001394876.1:p.Glu1099fs
NP_001394877.1:p.Glu1099fs
NP_001394878.1:p.Glu1099fs
NP_001394879.1:p.Glu1099fs
NP_001394880.1:p.Glu1099fs
NP_001394881.1:p.Glu1099fs
NP_001394882.1:p.Glu1099fs
NP_001394883.1:p.Glu1098fs
NP_001394884.1:p.Glu1098fs
NP_001394885.1:p.Glu1098fs
NP_001394886.1:p.Glu1099fs
NP_001394887.1:p.Glu1098fs
NP_001394888.1:p.Glu1083fs
NP_001394889.1:p.Glu1083fs
NP_001394891.1:p.Glu1082fs
NP_001394892.1:p.Glu1083fs
NP_001394893.1:p.Glu1162fs
NP_001394894.1:p.Glu1042fs
NP_001394895.1:p.Glu914fs
NP_001394896.1:p.Glu914fs
NP_001394897.1:p.Glu342fs
NP_001394898.1:p.Glu342fs
NP_009225.1:p.Glu1210fs
NP_009228.2:p.Glu1163fs
NP_009231.2:p.Glu1210fs
LRG_292t1:c.3627dup
LRG_292:g.126080dup
LRG_292p1:p.Glu1210Argfs
NC_000017.10:g.41243921dup
NC_000017.10:g.41243921dup
NC_000017.11:g.43091903_43091904insT
NM_007294.3:c.3627dupA
NM_007294.3:c.3627insA
NM_007294.4:c.3627dup
NR_027676.1:n.3763dup
U14680.1:n.3746_3747insA
p.E1210Rfs*9
p.E1210RfsX9
NM_007294.3:c.3627insA

Nucleotide change:

3746insA

Protein change:

E1042fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 3746&base_change=ins A; dbSNP: rs80357729

NCBI 1000 Genomes Browser:

rs80357729

Molecular consequence:

NM_001407571.1:c.3414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.3624dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.3624dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.3624dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.3624dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.3624dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.3624dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.3624dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.3624dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.3624dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.3624dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.3624dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.3624dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.3624dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.3624dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.3624dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.3624dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.3624dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.3624dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.3624dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.3624dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.3624dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.3624dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.3624dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.3618dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.3618dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.3504dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.3501dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.3549dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.3549dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.3549dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.3549dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.3549dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.3549dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.3546dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.3546dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.3546dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.3546dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.3549dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.3504dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.3504dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.3504dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.3504dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.3504dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.3504dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.3501dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.3501dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.3501dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.3501dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.3504dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.3504dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.3504dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.3504dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.3504dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.3504dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.3504dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.3504dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.3504dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.3504dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.3501dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.3501dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.3501dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.3501dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.3501dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.3501dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.3501dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.3483dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.3483dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.3483dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.3483dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.3483dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.3483dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.3483dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.3483dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.3483dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.3483dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.3483dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.3483dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.3483dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.3483dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.3483dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.3483dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.3483dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.3483dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.3483dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.3483dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.3483dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.3414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.3624dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.3624dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.3426dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.3504dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.3423dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.3423dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.3417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.3417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.3417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.3417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.3417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.3417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.3417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.3417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.3414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.3414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.3414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.3414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.3414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.3414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.3417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.3417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.3417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.3417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.3417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.3417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.3417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.3417dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.3414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.3414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.3414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.3414dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.3504dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.3363dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.3363dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.3363dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.3363dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.3363dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.3363dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.3363dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.3363dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.3363dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.3363dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.3360dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.3360dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.3360dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.3363dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.3360dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.3363dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.3360dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.3504dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.3504dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.3504dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.3501dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.3501dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.3483dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.3294dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.3294dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.3294dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.3294dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.3294dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.3294dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.3294dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.3294dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.3291dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.3291dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.3291dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.3294dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.3291dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.3246dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.3246dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.3243dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.3246dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.3483dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.3123dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.2739dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.2739dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.1023dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407969.1:c.1023dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.3486dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.3627dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407970.1:c.788-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-881dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-872dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-872dup - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000076276	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 17, 2024)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 20104584, 16949048, 22160602, 22382806, 22798144, 23633455, 28492532
SCV000587322	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
SCV000699047	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Pathogenic (Sep 3, 2020)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 23961350, 16949048, 22762150, 24916970 Citation Link,
SCV004848280	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 14, 2019)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 16949048, 23633455, 29348823, 30078507, 25741868

Help

Summary from all submissions

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

Citations

PubMed

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

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

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

PubMed [citation]

PMID:: 20104584
PMCID:: PMC2928257

Validation of three BRCA1/2 mutation-carrier probability models Myriad, BRCAPRO and BOADICEA in a population-based series of 183 German families.

Schneegans SM, Rosenberger A, Engel U, Sander M, Emons G, Shoukier M.

Fam Cancer. 2012 Jun;11(2):181-8. doi: 10.1007/s10689-011-9498-y.

PubMed [citation]

PMID:: 22160602
PMCID:: PMC3365232

See all PubMed Citations (13)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000076276.14

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

Description

This sequence change creates a premature translational stop signal (p.Glu1210Argfs*9) 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). This variant is present in population databases (rs80357729, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 16949048, 22160602, 22382806, 22798144, 23633455). This variant is also known as 3627insA and 3746insA. ClinVar contains an entry for this variant (Variation ID: 37534). For these reasons, this variant has been 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 Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587322.1

#	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, SCV000699047.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

Variant summary: BRCA1 c.3627dupA (p.Glu1210ArgfsX9) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the 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. The variant allele was found at a frequency of 7.9e-06 in 251602 control chromosomes. c.3627dupA has been reported in the literature in multiple individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (Kim_2006, Lecarpentier_2012, Solano_2013, Peixoto_2014). These data indicate that the variant is very likely to be associated with disease. Ten clinical diagnostic laboratories and one expert panel (ENIGMA) have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was 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 Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV004848280.1

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

Description

The p.Glu1210ArgfsX9 variant in BRCA1 has been reported in >10 individuals with breast and/or ovarian cancer (HBOC; Kim 2006, George 2013, Hirasawa 2017, Li 2018, BIC database). It has also been identified in 2/18370 East Asian chromosomes by gnomAD (http://gnomad.broadinstitute.org); however, this frequency is low enough to be consistent with the frequency of hereditary breast and ovarian cancer in the general population. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 1210 and leads to a premature termination codon 9 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the BRCA1 gene is an established disease mechanism in autosomal dominant hereditary breast and ovarian cancer syndrome. Additionally, this variant was classified as Pathogenic on Apr 22, 2016 by the ClinGen-approved ENIGMA expert panel (Variation ID: 37534). In summary, this variant meets criteria to be classified as pathogenic for autosomal dominant HBOC. ACMG/AMP Criteria applied: PVS1, PM2, PS4_M.

#	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: Oct 13, 2024

ClinVar

Relating variation to medicine