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NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs) AND not provided

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Jul 1, 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:
RCV000301326.32

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]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000329127GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(May 12, 2023) 		germlineclinical testing

Citation Link,

SCV000600337Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Pathogenic
(Nov 28, 2016) 		germlineclinical testing

PubMed (12)
[See all records that cite these PMIDs]

SCV001247354CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Jul 1, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer.

Kim H, Cho DY, Choi DH, Choi SY, Shin I, Park W, Huh SJ, Han SH, Lee MH, Ahn SH, Son BH, Kim SW; Korean Breast Cancer Study Group., Haffty BG.

Breast Cancer Res Treat. 2012 Aug;134(3):1315-26. doi: 10.1007/s10549-012-2159-5. Epub 2012 Jul 14.

PubMed [citation]
PMID:
22798144

Prevalence of BRCA1 and BRCA2 mutations in non-familial breast cancer patients with high risks in Korea: the Korean Hereditary Breast Cancer (KOHBRA) Study.

Son BH, Ahn SH, Kim SW, Kang E, Park SK, Lee MH, Noh WC, Kim LS, Jung Y, Kim KS, Noh DY, Moon BI, Suh YJ, Lee JE, Choi DH, Kim SY, Jung SH, Yom CK, Lee H, Yang JH; KOHBRA Research Group and Korean Breast Cancer Society..

Breast Cancer Res Treat. 2012 Jun;133(3):1143-52. doi: 10.1007/s10549-012-2001-0. Epub 2012 Mar 2.

PubMed [citation]
PMID:
22382806
PMCID:
PMC3387491
See all PubMed Citations (12)

Details of each submission

From GeneDx, SCV000329127.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Observed in association with breast and/or ovarian cancer and is a recurrent variant in Korean populations (Kim et al., 2006; Schneegans et al., 2012; Kim et al., 2012; Solano et al., 2012; Hirasawa et al., 2017; Lerner-Ellis et al., 2021); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Not observed at significant frequency in large population cohorts (gnomAD); Also known as 3746dupA; This variant is associated with the following publications: (PMID: 16949048, 24916970, 28012317, 24728189, 22217648, 22382806, 20950396, 22762150, 17100994, 29348823, 25863477, 11802209, 29907814, 30257646, 29922827, 28888541, 23633455, 22160602, 27836010, 28111427, 28205045, 16084575, 16455195, 23961350, 27488874, 22798144, 30720863, 30078507, 30720243, 30350268, 33087929, 30309222, 31825140, 32455662, 31090900, 31447099, 34657373, 30702160, 34645131, 32885271)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000600337.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (12)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Center for Human Genetics Tuebingen, SCV001247354.25

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided

Description

BRCA1: PVS1, PM2, PS4:Moderate, PP1

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 13, 2024