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NM_007294.4(BRCA1):c.3627dup (p.Glu1210fs) AND Malignant tumor of breast

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001358494.10

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:
Malignant tumor of breast
Synonyms:
Malignant breast neoplasm; Cancer breast
Identifiers:
MONDO: MONDO:0007254; MedGen: C0006142

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001554243Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Pathogenicunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001554243.1

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

Description

The BRCA1 p.Glu1210ArgfsX9 variant was identified in 20 of 10984 proband chromosomes (frequency: 0.002) from Korean and American individuals with breast and ovarian cancer and was not identified in 3738 control chromosomes from healthy individuals (Han 2006 17100994, Jang 2012 22217648, Park 2017 28205045 , Song 2014 24728189, Rebbeck 2016 27836010, Kim 2006 16949048, Park 2017 28111427). The variant was identified in 1 breast cancer case with a pathogenic BRCA2 variant, c.6724_6725delGA (Rebbeck 2016 27836010). The variant was also identified in dbSNP (ID: rs80357729) as “With Pathogenic allele”, in ClinVar (classified pathogenic, reviewed by an expert panel in 2016; submitters: ENIGMA, CIMBA, GeneDx, Invitae, Ambry Genetics, Counsyl, Quest Diagnostics Nichols Institute San Juan Capistrano, Color Genomics, Laboratory Corporation of America, SCRP, BIC), Clinvitae (6x), LOVD 3.0, UMD-LSDB (28x as causal), BIC Database (9x as class 5 pathogenic), ARUP Laboratories (as definitely pathogenic), but was not identified in Cosmic, MutDB, Zhejiang University Database, the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The c.3627dupA variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1210 and leads to a premature stop codon 9 codons downstream. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the BRCA1 gene are an established mechanism of disease in hereditary breast and ovarian cancer and is the type of variant expected to cause the disorder. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic.

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

Last Updated: Oct 13, 2024