NM_007294.4(BRCA1):c.3668_3671dup (p.Cys1225fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Apr 18, 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:: RCV000129597.18

Allele description [Variation Report for NM_007294.4(BRCA1):c.3668_3671dup (p.Cys1225fs)]

NM_007294.4(BRCA1):c.3668_3671dup (p.Cys1225fs)

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.3668_3671dup (p.Cys1225fs)

Other names:

3790ins4; 3790_3791insTTCC

HGVS:

NC_000017.11:g.43091861_43091864dup
NG_005905.2:g.126121_126124dup
NG_087068.1:g.843_846dup
NM_001407571.1:c.3455_3458dup
NM_001407581.1:c.3668_3671dup
NM_001407582.1:c.3668_3671dup
NM_001407583.1:c.3668_3671dup
NM_001407585.1:c.3668_3671dup
NM_001407587.1:c.3665_3668dup
NM_001407590.1:c.3665_3668dup
NM_001407591.1:c.3665_3668dup
NM_001407593.1:c.3668_3671dup
NM_001407594.1:c.3668_3671dup
NM_001407596.1:c.3668_3671dup
NM_001407597.1:c.3668_3671dup
NM_001407598.1:c.3668_3671dup
NM_001407602.1:c.3668_3671dup
NM_001407603.1:c.3668_3671dup
NM_001407605.1:c.3668_3671dup
NM_001407610.1:c.3665_3668dup
NM_001407611.1:c.3665_3668dup
NM_001407612.1:c.3665_3668dup
NM_001407613.1:c.3665_3668dup
NM_001407614.1:c.3665_3668dup
NM_001407615.1:c.3665_3668dup
NM_001407616.1:c.3668_3671dup
NM_001407617.1:c.3668_3671dup
NM_001407618.1:c.3668_3671dup
NM_001407619.1:c.3668_3671dup
NM_001407620.1:c.3668_3671dup
NM_001407621.1:c.3668_3671dup
NM_001407622.1:c.3668_3671dup
NM_001407623.1:c.3668_3671dup
NM_001407624.1:c.3668_3671dup
NM_001407625.1:c.3668_3671dup
NM_001407626.1:c.3668_3671dup
NM_001407627.1:c.3665_3668dup
NM_001407628.1:c.3665_3668dup
NM_001407629.1:c.3665_3668dup
NM_001407630.1:c.3665_3668dup
NM_001407631.1:c.3665_3668dup
NM_001407632.1:c.3665_3668dup
NM_001407633.1:c.3665_3668dup
NM_001407634.1:c.3665_3668dup
NM_001407635.1:c.3665_3668dup
NM_001407636.1:c.3665_3668dup
NM_001407637.1:c.3665_3668dup
NM_001407638.1:c.3665_3668dup
NM_001407639.1:c.3668_3671dup
NM_001407640.1:c.3668_3671dup
NM_001407641.1:c.3668_3671dup
NM_001407642.1:c.3668_3671dup
NM_001407644.1:c.3665_3668dup
NM_001407645.1:c.3665_3668dup
NM_001407646.1:c.3659_3662dup
NM_001407647.1:c.3659_3662dup
NM_001407648.1:c.3545_3548dup
NM_001407649.1:c.3542_3545dup
NM_001407652.1:c.3668_3671dup
NM_001407653.1:c.3590_3593dup
NM_001407654.1:c.3590_3593dup
NM_001407655.1:c.3590_3593dup
NM_001407656.1:c.3590_3593dup
NM_001407657.1:c.3590_3593dup
NM_001407658.1:c.3590_3593dup
NM_001407659.1:c.3587_3590dup
NM_001407660.1:c.3587_3590dup
NM_001407661.1:c.3587_3590dup
NM_001407662.1:c.3587_3590dup
NM_001407663.1:c.3590_3593dup
NM_001407664.1:c.3545_3548dup
NM_001407665.1:c.3545_3548dup
NM_001407666.1:c.3545_3548dup
NM_001407667.1:c.3545_3548dup
NM_001407668.1:c.3545_3548dup
NM_001407669.1:c.3545_3548dup
NM_001407670.1:c.3542_3545dup
NM_001407671.1:c.3542_3545dup
NM_001407672.1:c.3542_3545dup
NM_001407673.1:c.3542_3545dup
NM_001407674.1:c.3545_3548dup
NM_001407675.1:c.3545_3548dup
NM_001407676.1:c.3545_3548dup
NM_001407677.1:c.3545_3548dup
NM_001407678.1:c.3545_3548dup
NM_001407679.1:c.3545_3548dup
NM_001407680.1:c.3545_3548dup
NM_001407681.1:c.3545_3548dup
NM_001407682.1:c.3545_3548dup
NM_001407683.1:c.3545_3548dup
NM_001407684.1:c.3668_3671dup
NM_001407685.1:c.3542_3545dup
NM_001407686.1:c.3542_3545dup
NM_001407687.1:c.3542_3545dup
NM_001407688.1:c.3542_3545dup
NM_001407689.1:c.3542_3545dup
NM_001407690.1:c.3542_3545dup
NM_001407691.1:c.3542_3545dup
NM_001407692.1:c.3527_3530dup
NM_001407694.1:c.3527_3530dup
NM_001407695.1:c.3527_3530dup
NM_001407696.1:c.3527_3530dup
NM_001407697.1:c.3527_3530dup
NM_001407698.1:c.3527_3530dup
NM_001407724.1:c.3527_3530dup
NM_001407725.1:c.3527_3530dup
NM_001407726.1:c.3527_3530dup
NM_001407727.1:c.3527_3530dup
NM_001407728.1:c.3527_3530dup
NM_001407729.1:c.3527_3530dup
NM_001407730.1:c.3527_3530dup
NM_001407731.1:c.3527_3530dup
NM_001407732.1:c.3527_3530dup
NM_001407733.1:c.3527_3530dup
NM_001407734.1:c.3527_3530dup
NM_001407735.1:c.3527_3530dup
NM_001407736.1:c.3527_3530dup
NM_001407737.1:c.3527_3530dup
NM_001407738.1:c.3527_3530dup
NM_001407739.1:c.3527_3530dup
NM_001407740.1:c.3524_3527dup
NM_001407741.1:c.3524_3527dup
NM_001407742.1:c.3524_3527dup
NM_001407743.1:c.3524_3527dup
NM_001407744.1:c.3524_3527dup
NM_001407745.1:c.3524_3527dup
NM_001407746.1:c.3524_3527dup
NM_001407747.1:c.3524_3527dup
NM_001407748.1:c.3524_3527dup
NM_001407749.1:c.3524_3527dup
NM_001407750.1:c.3527_3530dup
NM_001407751.1:c.3527_3530dup
NM_001407752.1:c.3527_3530dup
NM_001407838.1:c.3524_3527dup
NM_001407839.1:c.3524_3527dup
NM_001407841.1:c.3524_3527dup
NM_001407842.1:c.3524_3527dup
NM_001407843.1:c.3524_3527dup
NM_001407844.1:c.3524_3527dup
NM_001407845.1:c.3524_3527dup
NM_001407846.1:c.3524_3527dup
NM_001407847.1:c.3524_3527dup
NM_001407848.1:c.3524_3527dup
NM_001407849.1:c.3524_3527dup
NM_001407850.1:c.3527_3530dup
NM_001407851.1:c.3527_3530dup
NM_001407852.1:c.3527_3530dup
NM_001407853.1:c.3455_3458dup
NM_001407854.1:c.3668_3671dup
NM_001407858.1:c.3668_3671dup
NM_001407859.1:c.3668_3671dup
NM_001407860.1:c.3665_3668dup
NM_001407861.1:c.3665_3668dup
NM_001407862.1:c.3467_3470dup
NM_001407863.1:c.3545_3548dup
NM_001407874.1:c.3464_3467dup
NM_001407875.1:c.3464_3467dup
NM_001407879.1:c.3458_3461dup
NM_001407881.1:c.3458_3461dup
NM_001407882.1:c.3458_3461dup
NM_001407884.1:c.3458_3461dup
NM_001407885.1:c.3458_3461dup
NM_001407886.1:c.3458_3461dup
NM_001407887.1:c.3458_3461dup
NM_001407889.1:c.3458_3461dup
NM_001407894.1:c.3455_3458dup
NM_001407895.1:c.3455_3458dup
NM_001407896.1:c.3455_3458dup
NM_001407897.1:c.3455_3458dup
NM_001407898.1:c.3455_3458dup
NM_001407899.1:c.3455_3458dup
NM_001407900.1:c.3458_3461dup
NM_001407902.1:c.3458_3461dup
NM_001407904.1:c.3458_3461dup
NM_001407906.1:c.3458_3461dup
NM_001407907.1:c.3458_3461dup
NM_001407908.1:c.3458_3461dup
NM_001407909.1:c.3458_3461dup
NM_001407910.1:c.3458_3461dup
NM_001407915.1:c.3455_3458dup
NM_001407916.1:c.3455_3458dup
NM_001407917.1:c.3455_3458dup
NM_001407918.1:c.3455_3458dup
NM_001407919.1:c.3545_3548dup
NM_001407920.1:c.3404_3407dup
NM_001407921.1:c.3404_3407dup
NM_001407922.1:c.3404_3407dup
NM_001407923.1:c.3404_3407dup
NM_001407924.1:c.3404_3407dup
NM_001407925.1:c.3404_3407dup
NM_001407926.1:c.3404_3407dup
NM_001407927.1:c.3404_3407dup
NM_001407928.1:c.3404_3407dup
NM_001407929.1:c.3404_3407dup
NM_001407930.1:c.3401_3404dup
NM_001407931.1:c.3401_3404dup
NM_001407932.1:c.3401_3404dup
NM_001407933.1:c.3404_3407dup
NM_001407934.1:c.3401_3404dup
NM_001407935.1:c.3404_3407dup
NM_001407936.1:c.3401_3404dup
NM_001407937.1:c.3545_3548dup
NM_001407938.1:c.3545_3548dup
NM_001407939.1:c.3545_3548dup
NM_001407940.1:c.3542_3545dup
NM_001407941.1:c.3542_3545dup
NM_001407942.1:c.3527_3530dup
NM_001407943.1:c.3524_3527dup
NM_001407944.1:c.3527_3530dup
NM_001407945.1:c.3527_3530dup
NM_001407946.1:c.3335_3338dup
NM_001407947.1:c.3335_3338dup
NM_001407948.1:c.3335_3338dup
NM_001407949.1:c.3335_3338dup
NM_001407950.1:c.3335_3338dup
NM_001407951.1:c.3335_3338dup
NM_001407952.1:c.3335_3338dup
NM_001407953.1:c.3335_3338dup
NM_001407954.1:c.3332_3335dup
NM_001407955.1:c.3332_3335dup
NM_001407956.1:c.3332_3335dup
NM_001407957.1:c.3335_3338dup
NM_001407958.1:c.3332_3335dup
NM_001407959.1:c.3287_3290dup
NM_001407960.1:c.3287_3290dup
NM_001407962.1:c.3284_3287dup
NM_001407963.1:c.3287_3290dup
NM_001407964.1:c.3524_3527dup
NM_001407965.1:c.3164_3167dup
NM_001407966.1:c.2780_2783dup
NM_001407967.1:c.2780_2783dup
NM_001407968.1:c.1064_1067dup
NM_001407969.1:c.1064_1067dup
NM_001407970.1:c.788-831_788-828dup
NM_001407971.1:c.788-831_788-828dup
NM_001407972.1:c.785-831_785-828dup
NM_001407973.1:c.788-831_788-828dup
NM_001407974.1:c.788-831_788-828dup
NM_001407975.1:c.788-831_788-828dup
NM_001407976.1:c.788-831_788-828dup
NM_001407977.1:c.788-831_788-828dup
NM_001407978.1:c.788-831_788-828dup
NM_001407979.1:c.788-831_788-828dup
NM_001407980.1:c.788-831_788-828dup
NM_001407981.1:c.788-831_788-828dup
NM_001407982.1:c.788-831_788-828dup
NM_001407983.1:c.788-831_788-828dup
NM_001407984.1:c.785-831_785-828dup
NM_001407985.1:c.785-831_785-828dup
NM_001407986.1:c.785-831_785-828dup
NM_001407990.1:c.788-831_788-828dup
NM_001407991.1:c.785-831_785-828dup
NM_001407992.1:c.785-831_785-828dup
NM_001407993.1:c.788-831_788-828dup
NM_001408392.1:c.785-831_785-828dup
NM_001408396.1:c.785-831_785-828dup
NM_001408397.1:c.785-831_785-828dup
NM_001408398.1:c.785-831_785-828dup
NM_001408399.1:c.785-831_785-828dup
NM_001408400.1:c.785-831_785-828dup
NM_001408401.1:c.785-831_785-828dup
NM_001408402.1:c.785-831_785-828dup
NM_001408403.1:c.788-831_788-828dup
NM_001408404.1:c.788-831_788-828dup
NM_001408406.1:c.791-840_791-837dup
NM_001408407.1:c.785-831_785-828dup
NM_001408408.1:c.779-831_779-828dup
NM_001408409.1:c.710-831_710-828dup
NM_001408410.1:c.647-831_647-828dup
NM_001408411.1:c.710-831_710-828dup
NM_001408412.1:c.710-831_710-828dup
NM_001408413.1:c.707-831_707-828dup
NM_001408414.1:c.710-831_710-828dup
NM_001408415.1:c.710-831_710-828dup
NM_001408416.1:c.707-831_707-828dup
NM_001408418.1:c.671-831_671-828dup
NM_001408419.1:c.671-831_671-828dup
NM_001408420.1:c.671-831_671-828dup
NM_001408421.1:c.668-831_668-828dup
NM_001408422.1:c.671-831_671-828dup
NM_001408423.1:c.671-831_671-828dup
NM_001408424.1:c.668-831_668-828dup
NM_001408425.1:c.665-831_665-828dup
NM_001408426.1:c.665-831_665-828dup
NM_001408427.1:c.665-831_665-828dup
NM_001408428.1:c.665-831_665-828dup
NM_001408429.1:c.665-831_665-828dup
NM_001408430.1:c.665-831_665-828dup
NM_001408431.1:c.668-831_668-828dup
NM_001408432.1:c.662-831_662-828dup
NM_001408433.1:c.662-831_662-828dup
NM_001408434.1:c.662-831_662-828dup
NM_001408435.1:c.662-831_662-828dup
NM_001408436.1:c.665-831_665-828dup
NM_001408437.1:c.665-831_665-828dup
NM_001408438.1:c.665-831_665-828dup
NM_001408439.1:c.665-831_665-828dup
NM_001408440.1:c.665-831_665-828dup
NM_001408441.1:c.665-831_665-828dup
NM_001408442.1:c.665-831_665-828dup
NM_001408443.1:c.665-831_665-828dup
NM_001408444.1:c.665-831_665-828dup
NM_001408445.1:c.662-831_662-828dup
NM_001408446.1:c.662-831_662-828dup
NM_001408447.1:c.662-831_662-828dup
NM_001408448.1:c.662-831_662-828dup
NM_001408450.1:c.662-831_662-828dup
NM_001408451.1:c.653-831_653-828dup
NM_001408452.1:c.647-831_647-828dup
NM_001408453.1:c.647-831_647-828dup
NM_001408454.1:c.647-831_647-828dup
NM_001408455.1:c.647-831_647-828dup
NM_001408456.1:c.647-831_647-828dup
NM_001408457.1:c.647-831_647-828dup
NM_001408458.1:c.647-831_647-828dup
NM_001408459.1:c.647-831_647-828dup
NM_001408460.1:c.647-831_647-828dup
NM_001408461.1:c.647-831_647-828dup
NM_001408462.1:c.644-831_644-828dup
NM_001408463.1:c.644-831_644-828dup
NM_001408464.1:c.644-831_644-828dup
NM_001408465.1:c.644-831_644-828dup
NM_001408466.1:c.647-831_647-828dup
NM_001408467.1:c.647-831_647-828dup
NM_001408468.1:c.644-831_644-828dup
NM_001408469.1:c.647-831_647-828dup
NM_001408470.1:c.644-831_644-828dup
NM_001408472.1:c.788-831_788-828dup
NM_001408473.1:c.785-831_785-828dup
NM_001408474.1:c.587-831_587-828dup
NM_001408475.1:c.584-831_584-828dup
NM_001408476.1:c.587-831_587-828dup
NM_001408478.1:c.578-831_578-828dup
NM_001408479.1:c.578-831_578-828dup
NM_001408480.1:c.578-831_578-828dup
NM_001408481.1:c.578-831_578-828dup
NM_001408482.1:c.578-831_578-828dup
NM_001408483.1:c.578-831_578-828dup
NM_001408484.1:c.578-831_578-828dup
NM_001408485.1:c.578-831_578-828dup
NM_001408489.1:c.578-831_578-828dup
NM_001408490.1:c.575-831_575-828dup
NM_001408491.1:c.575-831_575-828dup
NM_001408492.1:c.578-831_578-828dup
NM_001408493.1:c.575-831_575-828dup
NM_001408494.1:c.548-831_548-828dup
NM_001408495.1:c.545-831_545-828dup
NM_001408496.1:c.524-831_524-828dup
NM_001408497.1:c.524-831_524-828dup
NM_001408498.1:c.524-831_524-828dup
NM_001408499.1:c.524-831_524-828dup
NM_001408500.1:c.524-831_524-828dup
NM_001408501.1:c.524-831_524-828dup
NM_001408502.1:c.455-831_455-828dup
NM_001408503.1:c.521-831_521-828dup
NM_001408504.1:c.521-831_521-828dup
NM_001408505.1:c.521-831_521-828dup
NM_001408506.1:c.461-831_461-828dup
NM_001408507.1:c.461-831_461-828dup
NM_001408508.1:c.452-831_452-828dup
NM_001408509.1:c.452-831_452-828dup
NM_001408510.1:c.407-831_407-828dup
NM_001408511.1:c.404-831_404-828dup
NM_001408512.1:c.284-831_284-828dup
NM_001408513.1:c.578-831_578-828dup
NM_001408514.1:c.578-831_578-828dup
NM_007294.4:c.3668_3671dupMANE SELECT
NM_007297.4:c.3527_3530dup
NM_007298.4:c.788-831_788-828dup
NM_007299.4:c.788-831_788-828dup
NM_007300.4:c.3668_3671dup
NP_001394500.1:p.Cys1154fs
NP_001394510.1:p.Cys1225fs
NP_001394511.1:p.Cys1225fs
NP_001394512.1:p.Cys1225fs
NP_001394514.1:p.Cys1225fs
NP_001394516.1:p.Cys1224fs
NP_001394519.1:p.Cys1224fs
NP_001394520.1:p.Cys1224fs
NP_001394522.1:p.Cys1225fs
NP_001394523.1:p.Cys1225fs
NP_001394525.1:p.Cys1225fs
NP_001394526.1:p.Cys1225fs
NP_001394527.1:p.Cys1225fs
NP_001394531.1:p.Cys1225fs
NP_001394532.1:p.Cys1225fs
NP_001394534.1:p.Cys1225fs
NP_001394539.1:p.Cys1224fs
NP_001394540.1:p.Cys1224fs
NP_001394541.1:p.Cys1224fs
NP_001394542.1:p.Cys1224fs
NP_001394543.1:p.Cys1224fs
NP_001394544.1:p.Cys1224fs
NP_001394545.1:p.Cys1225fs
NP_001394546.1:p.Cys1225fs
NP_001394547.1:p.Cys1225fs
NP_001394548.1:p.Cys1225fs
NP_001394549.1:p.Cys1225fs
NP_001394550.1:p.Cys1225fs
NP_001394551.1:p.Cys1225fs
NP_001394552.1:p.Cys1225fs
NP_001394553.1:p.Cys1225fs
NP_001394554.1:p.Cys1225fs
NP_001394555.1:p.Cys1225fs
NP_001394556.1:p.Cys1224fs
NP_001394557.1:p.Cys1224fs
NP_001394558.1:p.Cys1224fs
NP_001394559.1:p.Cys1224fs
NP_001394560.1:p.Cys1224fs
NP_001394561.1:p.Cys1224fs
NP_001394562.1:p.Cys1224fs
NP_001394563.1:p.Cys1224fs
NP_001394564.1:p.Cys1224fs
NP_001394565.1:p.Cys1224fs
NP_001394566.1:p.Cys1224fs
NP_001394567.1:p.Cys1224fs
NP_001394568.1:p.Cys1225fs
NP_001394569.1:p.Cys1225fs
NP_001394570.1:p.Cys1225fs
NP_001394571.1:p.Cys1225fs
NP_001394573.1:p.Cys1224fs
NP_001394574.1:p.Cys1224fs
NP_001394575.1:p.Cys1222fs
NP_001394576.1:p.Cys1222fs
NP_001394577.1:p.Cys1184fs
NP_001394578.1:p.Cys1183fs
NP_001394581.1:p.Cys1225fs
NP_001394582.1:p.Cys1199fs
NP_001394583.1:p.Cys1199fs
NP_001394584.1:p.Cys1199fs
NP_001394585.1:p.Cys1199fs
NP_001394586.1:p.Cys1199fs
NP_001394587.1:p.Cys1199fs
NP_001394588.1:p.Cys1198fs
NP_001394589.1:p.Cys1198fs
NP_001394590.1:p.Cys1198fs
NP_001394591.1:p.Cys1198fs
NP_001394592.1:p.Cys1199fs
NP_001394593.1:p.Cys1184fs
NP_001394594.1:p.Cys1184fs
NP_001394595.1:p.Cys1184fs
NP_001394596.1:p.Cys1184fs
NP_001394597.1:p.Cys1184fs
NP_001394598.1:p.Cys1184fs
NP_001394599.1:p.Cys1183fs
NP_001394600.1:p.Cys1183fs
NP_001394601.1:p.Cys1183fs
NP_001394602.1:p.Cys1183fs
NP_001394603.1:p.Cys1184fs
NP_001394604.1:p.Cys1184fs
NP_001394605.1:p.Cys1184fs
NP_001394606.1:p.Cys1184fs
NP_001394607.1:p.Cys1184fs
NP_001394608.1:p.Cys1184fs
NP_001394609.1:p.Cys1184fs
NP_001394610.1:p.Cys1184fs
NP_001394611.1:p.Cys1184fs
NP_001394612.1:p.Cys1184fs
NP_001394613.1:p.Cys1225fs
NP_001394614.1:p.Cys1183fs
NP_001394615.1:p.Cys1183fs
NP_001394616.1:p.Cys1183fs
NP_001394617.1:p.Cys1183fs
NP_001394618.1:p.Cys1183fs
NP_001394619.1:p.Cys1183fs
NP_001394620.1:p.Cys1183fs
NP_001394621.1:p.Cys1178fs
NP_001394623.1:p.Cys1178fs
NP_001394624.1:p.Cys1178fs
NP_001394625.1:p.Cys1178fs
NP_001394626.1:p.Cys1178fs
NP_001394627.1:p.Cys1178fs
NP_001394653.1:p.Cys1178fs
NP_001394654.1:p.Cys1178fs
NP_001394655.1:p.Cys1178fs
NP_001394656.1:p.Cys1178fs
NP_001394657.1:p.Cys1178fs
NP_001394658.1:p.Cys1178fs
NP_001394659.1:p.Cys1178fs
NP_001394660.1:p.Cys1178fs
NP_001394661.1:p.Cys1178fs
NP_001394662.1:p.Cys1178fs
NP_001394663.1:p.Cys1178fs
NP_001394664.1:p.Cys1178fs
NP_001394665.1:p.Cys1178fs
NP_001394666.1:p.Cys1178fs
NP_001394667.1:p.Cys1178fs
NP_001394668.1:p.Cys1178fs
NP_001394669.1:p.Cys1177fs
NP_001394670.1:p.Cys1177fs
NP_001394671.1:p.Cys1177fs
NP_001394672.1:p.Cys1177fs
NP_001394673.1:p.Cys1177fs
NP_001394674.1:p.Cys1177fs
NP_001394675.1:p.Cys1177fs
NP_001394676.1:p.Cys1177fs
NP_001394677.1:p.Cys1177fs
NP_001394678.1:p.Cys1177fs
NP_001394679.1:p.Cys1178fs
NP_001394680.1:p.Cys1178fs
NP_001394681.1:p.Cys1178fs
NP_001394767.1:p.Cys1177fs
NP_001394768.1:p.Cys1177fs
NP_001394770.1:p.Cys1177fs
NP_001394771.1:p.Cys1177fs
NP_001394772.1:p.Cys1177fs
NP_001394773.1:p.Cys1177fs
NP_001394774.1:p.Cys1177fs
NP_001394775.1:p.Cys1177fs
NP_001394776.1:p.Cys1177fs
NP_001394777.1:p.Cys1177fs
NP_001394778.1:p.Cys1177fs
NP_001394779.1:p.Cys1178fs
NP_001394780.1:p.Cys1178fs
NP_001394781.1:p.Cys1178fs
NP_001394782.1:p.Cys1154fs
NP_001394783.1:p.Cys1225fs
NP_001394787.1:p.Cys1225fs
NP_001394788.1:p.Cys1225fs
NP_001394789.1:p.Cys1224fs
NP_001394790.1:p.Cys1224fs
NP_001394791.1:p.Cys1158fs
NP_001394792.1:p.Cys1184fs
NP_001394803.1:p.Cys1157fs
NP_001394804.1:p.Cys1157fs
NP_001394808.1:p.Cys1155fs
NP_001394810.1:p.Cys1155fs
NP_001394811.1:p.Cys1155fs
NP_001394813.1:p.Cys1155fs
NP_001394814.1:p.Cys1155fs
NP_001394815.1:p.Cys1155fs
NP_001394816.1:p.Cys1155fs
NP_001394818.1:p.Cys1155fs
NP_001394823.1:p.Cys1154fs
NP_001394824.1:p.Cys1154fs
NP_001394825.1:p.Cys1154fs
NP_001394826.1:p.Cys1154fs
NP_001394827.1:p.Cys1154fs
NP_001394828.1:p.Cys1154fs
NP_001394829.1:p.Cys1155fs
NP_001394831.1:p.Cys1155fs
NP_001394833.1:p.Cys1155fs
NP_001394835.1:p.Cys1155fs
NP_001394836.1:p.Cys1155fs
NP_001394837.1:p.Cys1155fs
NP_001394838.1:p.Cys1155fs
NP_001394839.1:p.Cys1155fs
NP_001394844.1:p.Cys1154fs
NP_001394845.1:p.Cys1154fs
NP_001394846.1:p.Cys1154fs
NP_001394847.1:p.Cys1154fs
NP_001394848.1:p.Cys1184fs
NP_001394849.1:p.Cys1137fs
NP_001394850.1:p.Cys1137fs
NP_001394851.1:p.Cys1137fs
NP_001394852.1:p.Cys1137fs
NP_001394853.1:p.Cys1137fs
NP_001394854.1:p.Cys1137fs
NP_001394855.1:p.Cys1137fs
NP_001394856.1:p.Cys1137fs
NP_001394857.1:p.Cys1137fs
NP_001394858.1:p.Cys1137fs
NP_001394859.1:p.Cys1136fs
NP_001394860.1:p.Cys1136fs
NP_001394861.1:p.Cys1136fs
NP_001394862.1:p.Cys1137fs
NP_001394863.1:p.Cys1136fs
NP_001394864.1:p.Cys1137fs
NP_001394865.1:p.Cys1136fs
NP_001394866.1:p.Cys1184fs
NP_001394867.1:p.Cys1184fs
NP_001394868.1:p.Cys1184fs
NP_001394869.1:p.Cys1183fs
NP_001394870.1:p.Cys1183fs
NP_001394871.1:p.Cys1178fs
NP_001394872.1:p.Cys1177fs
NP_001394873.1:p.Cys1178fs
NP_001394874.1:p.Cys1178fs
NP_001394875.1:p.Cys1114fs
NP_001394876.1:p.Cys1114fs
NP_001394877.1:p.Cys1114fs
NP_001394878.1:p.Cys1114fs
NP_001394879.1:p.Cys1114fs
NP_001394880.1:p.Cys1114fs
NP_001394881.1:p.Cys1114fs
NP_001394882.1:p.Cys1114fs
NP_001394883.1:p.Cys1113fs
NP_001394884.1:p.Cys1113fs
NP_001394885.1:p.Cys1113fs
NP_001394886.1:p.Cys1114fs
NP_001394887.1:p.Cys1113fs
NP_001394888.1:p.Cys1098fs
NP_001394889.1:p.Cys1098fs
NP_001394891.1:p.Cys1097fs
NP_001394892.1:p.Cys1098fs
NP_001394893.1:p.Cys1177fs
NP_001394894.1:p.Cys1057fs
NP_001394895.1:p.Cys929fs
NP_001394896.1:p.Cys929fs
NP_001394897.1:p.Cys357fs
NP_001394898.1:p.Cys357fs
NP_009225.1:p.Cys1225Serfs
NP_009225.1:p.Cys1225fs
NP_009228.2:p.Cys1178fs
NP_009231.2:p.Cys1225fs
LRG_292t1:c.3667_3670dup
LRG_292:g.126121_126124dup
LRG_292p1:p.Cys1225Serfs
NC_000017.10:g.41243878_41243881dup
NC_000017.10:g.41243878_41243881dup
NM_007294.3:c.3667_3670dup
NM_007294.3:c.3668_3671dupTTCC
NM_007294.4:c.3668_3671dup
NR_027676.1:n.3803_3806dup
U14680.1:n.3787_3790dup
U14680.1:n.3790_3791insTTCC
p.C1225Sfs*10
p.C1225SfsX10
p.Cys1225Serfs*10

Protein change:

C1057fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 3790&base_change=ins TTCC; dbSNP: rs80357797

NCBI 1000 Genomes Browser:

rs80357797

Molecular consequence:

NM_001407571.1:c.3455_3458dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.3665_3668dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.3665_3668dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.3665_3668dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.3665_3668dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.3665_3668dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.3665_3668dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.3665_3668dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.3665_3668dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.3665_3668dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.3665_3668dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.3665_3668dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.3665_3668dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.3665_3668dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.3665_3668dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.3665_3668dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.3665_3668dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.3665_3668dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.3665_3668dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.3665_3668dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.3665_3668dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.3665_3668dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.3665_3668dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.3665_3668dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.3659_3662dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.3659_3662dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.3545_3548dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.3542_3545dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.3590_3593dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.3590_3593dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.3590_3593dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.3590_3593dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.3590_3593dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.3590_3593dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.3587_3590dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.3587_3590dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.3587_3590dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.3587_3590dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.3590_3593dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.3545_3548dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.3545_3548dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.3545_3548dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.3545_3548dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.3545_3548dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.3545_3548dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.3542_3545dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.3542_3545dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.3542_3545dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.3542_3545dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.3545_3548dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.3545_3548dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.3545_3548dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.3545_3548dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.3545_3548dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.3545_3548dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.3545_3548dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.3545_3548dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.3545_3548dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.3545_3548dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.3542_3545dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.3542_3545dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.3542_3545dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.3542_3545dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.3542_3545dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.3542_3545dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.3542_3545dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.3524_3527dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.3524_3527dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.3524_3527dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.3524_3527dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.3524_3527dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.3524_3527dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.3524_3527dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.3524_3527dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.3524_3527dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.3524_3527dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.3524_3527dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.3524_3527dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.3524_3527dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.3524_3527dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.3524_3527dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.3524_3527dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.3524_3527dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.3524_3527dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.3524_3527dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.3524_3527dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.3524_3527dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.3455_3458dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.3665_3668dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.3665_3668dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.3467_3470dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.3545_3548dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.3464_3467dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.3464_3467dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.3458_3461dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.3458_3461dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.3458_3461dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.3458_3461dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.3458_3461dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.3458_3461dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.3458_3461dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.3458_3461dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.3455_3458dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.3455_3458dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.3455_3458dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.3455_3458dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.3455_3458dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.3455_3458dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.3458_3461dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.3458_3461dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.3458_3461dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.3458_3461dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.3458_3461dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.3458_3461dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.3458_3461dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.3458_3461dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.3455_3458dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.3455_3458dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.3455_3458dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.3455_3458dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.3545_3548dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.3404_3407dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.3404_3407dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.3404_3407dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.3404_3407dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.3404_3407dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.3404_3407dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.3404_3407dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.3404_3407dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.3404_3407dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.3404_3407dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.3401_3404dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.3401_3404dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.3401_3404dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.3404_3407dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.3401_3404dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.3404_3407dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.3401_3404dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.3545_3548dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.3545_3548dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.3545_3548dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.3542_3545dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.3542_3545dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.3524_3527dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.3335_3338dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.3335_3338dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.3335_3338dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.3335_3338dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.3335_3338dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.3335_3338dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.3335_3338dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.3335_3338dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.3332_3335dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.3332_3335dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.3332_3335dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.3335_3338dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.3332_3335dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.3287_3290dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.3287_3290dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.3284_3287dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.3287_3290dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.3524_3527dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.3164_3167dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.2780_2783dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.2780_2783dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.1064_1067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407969.1:c.1064_1067dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.3527_3530dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.3668_3671dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407970.1:c.788-831_788-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-831_788-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-831_785-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-831_788-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-831_788-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-831_788-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-831_788-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-831_788-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-831_788-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-831_788-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-831_788-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-831_788-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-831_788-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-831_788-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-831_785-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-831_785-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-831_785-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-831_788-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-831_785-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-831_785-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-831_788-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-831_785-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-831_785-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-831_785-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-831_785-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-831_785-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-831_785-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-831_785-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-831_785-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-831_788-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-831_788-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-840_791-837dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-831_785-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-831_779-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-831_710-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-831_647-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-831_710-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-831_710-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-831_707-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-831_710-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-831_710-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-831_707-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-831_671-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-831_671-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-831_671-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-831_668-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-831_671-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-831_671-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-831_668-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-831_665-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-831_665-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-831_665-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-831_665-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-831_665-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-831_665-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-831_668-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-831_662-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-831_662-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-831_662-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-831_662-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-831_665-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-831_665-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-831_665-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-831_665-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-831_665-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-831_665-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-831_665-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-831_665-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-831_665-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-831_662-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-831_662-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-831_662-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-831_662-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-831_662-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-831_653-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-831_647-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-831_647-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-831_647-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-831_647-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-831_647-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-831_647-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-831_647-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-831_647-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-831_647-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-831_647-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-831_644-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-831_644-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-831_644-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-831_644-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-831_647-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-831_647-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-831_644-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-831_647-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-831_644-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-831_788-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-831_785-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-831_587-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-831_584-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-831_587-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-831_578-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-831_578-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-831_578-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-831_578-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-831_578-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-831_578-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-831_578-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-831_578-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-831_578-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-831_575-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-831_575-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-831_578-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-831_575-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-831_548-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-831_545-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-831_524-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-831_524-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-831_524-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-831_524-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-831_524-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-831_524-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-831_455-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-831_521-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-831_521-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-831_521-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-831_461-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-831_461-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-831_452-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-831_452-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-831_407-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-831_404-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-831_284-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-831_578-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-831_578-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-831_788-828dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-831_788-828dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000184381	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Aug 24, 2021)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 12698193, 15728167, 22711857, 26681312, 26718727, 31341520 Citation Link,
SCV000688446	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 18, 2023)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 12698193, 15728167, 22711857, 26718727, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000184381

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Aug 24, 2021)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link,

SCV000688446

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 18, 2023)

germline

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

Susswein LR, Marshall ML, Nusbaum R, Vogel Postula KJ, Weissman SM, Yackowski L, Vaccari EM, Bissonnette J, Booker JK, Cremona ML, Gibellini F, Murphy PD, Pineda-Alvarez DE, Pollevick GD, Xu Z, Richard G, Bale S, Klein RT, Hruska KS, Chung WK.

Genet Med. 2016 Aug;18(8):823-32. doi: 10.1038/gim.2015.166. Epub 2015 Dec 17. Erratum in: Genet Med. 2016 May;18(5):531-2.

PubMed [citation]

PMID:: 26681312
PMCID:: PMC4985612

Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls.

Arvai KJ, Roberts ME, Torene RI, Susswein LR, Marshall ML, Zhang Z, Carter NJ, Yackowski L, Rinella ES, Klein RT, Hruska KS, Retterer K.

Hered Cancer Clin Pract. 2019;17:19. doi: 10.1186/s13053-019-0119-3.

PubMed [citation]

PMID:: 31341520
PMCID:: PMC6631909

See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV000184381.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

The c.3668_3671dupTTCC pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of TTCC at nucleotide position 3668, causing a translational frameshift with a predicted alternate stop codon (p.C1225Sfs*10). This mutation has been reported in multiple individuals with Hereditary Breast and Ovarian Cancer (HBOC) syndrome (Scottish/Northern Irish BRCA1/BRCA2 Consortium. Br. J. Cancer, 2003 Apr;88:1256-62; Claus EB et al. JAMA, 2005 Feb;293:964-9; Alsop K et al. J Clin Oncol, 2012 Jul;30:2654-63; Bernards SS et al. Gynecol. Oncol., 2016 Feb;140:221-5; Susswein LR et al. Genet Med, 2016 08;18:823-32; Arvai KJ et al. Hered Cancer Clin Pract, 2019 Jul;17:19). Of note, this alteration is also designated as 3790ins4 and 3790insTTCC in the published literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

From Color Diagnostics, LLC DBA Color Health, SCV000688446.4

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

Description

This variant inserts 4 nucleotides in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is also known as c.3671_3672insTTCC and 3790ins4. This variant is expected to result in an absent or non-functional protein product. This variant has been detected in at least five individuals affected with breast and ovarian cancer (PMID: 12698193, 15728167, 22711857, 26718727; Color internal data). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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

Last Updated: Jun 2, 2024

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