NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs) AND Hereditary breast ovarian cancer syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (5 submissions)
Last evaluated:: Jan 9, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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

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

Record status:: current
Accession:: RCV000048287.28

Allele description

NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)

Genes:

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

Variant type:

Microsatellite

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)

Other names:

3819_3823delGTAAA

HGVS:

NC_000017.10:g.41243849_41243853del
NC_000017.11:g.43091827TTTAC[1]
NG_005905.2:g.126148GTAAA[1]
NG_087068.1:g.809TTTAC[1]
NM_001407571.1:c.3487_3491del
NM_001407581.1:c.3700_3704del
NM_001407582.1:c.3700_3704del
NM_001407583.1:c.3700_3704del
NM_001407585.1:c.3700_3704del
NM_001407587.1:c.3697_3701del
NM_001407590.1:c.3697_3701del
NM_001407591.1:c.3697_3701del
NM_001407593.1:c.3700_3704del
NM_001407594.1:c.3700_3704del
NM_001407596.1:c.3700_3704del
NM_001407597.1:c.3700_3704del
NM_001407598.1:c.3700_3704del
NM_001407602.1:c.3700_3704del
NM_001407603.1:c.3700_3704del
NM_001407605.1:c.3700_3704del
NM_001407610.1:c.3697_3701del
NM_001407611.1:c.3697_3701del
NM_001407612.1:c.3697_3701del
NM_001407613.1:c.3697_3701del
NM_001407614.1:c.3697_3701del
NM_001407615.1:c.3697_3701del
NM_001407616.1:c.3700_3704del
NM_001407617.1:c.3700_3704del
NM_001407618.1:c.3700_3704del
NM_001407619.1:c.3700_3704del
NM_001407620.1:c.3700_3704del
NM_001407621.1:c.3700_3704del
NM_001407622.1:c.3700_3704del
NM_001407623.1:c.3700_3704del
NM_001407624.1:c.3700_3704del
NM_001407625.1:c.3700_3704del
NM_001407626.1:c.3700_3704del
NM_001407627.1:c.3697_3701del
NM_001407628.1:c.3697_3701del
NM_001407629.1:c.3697_3701del
NM_001407630.1:c.3697_3701del
NM_001407631.1:c.3697_3701del
NM_001407632.1:c.3697_3701del
NM_001407633.1:c.3697_3701del
NM_001407634.1:c.3697_3701del
NM_001407635.1:c.3697_3701del
NM_001407636.1:c.3697_3701del
NM_001407637.1:c.3697_3701del
NM_001407638.1:c.3697_3701del
NM_001407639.1:c.3700_3704del
NM_001407640.1:c.3700_3704del
NM_001407641.1:c.3700_3704del
NM_001407642.1:c.3700_3704del
NM_001407644.1:c.3697_3701del
NM_001407645.1:c.3697_3701del
NM_001407646.1:c.3691_3695del
NM_001407647.1:c.3691_3695del
NM_001407648.1:c.3577_3581del
NM_001407649.1:c.3574_3578del
NM_001407652.1:c.3700_3704del
NM_001407653.1:c.3622_3626del
NM_001407654.1:c.3622_3626del
NM_001407655.1:c.3622_3626del
NM_001407656.1:c.3622_3626del
NM_001407657.1:c.3622_3626del
NM_001407658.1:c.3622_3626del
NM_001407659.1:c.3619_3623del
NM_001407660.1:c.3619_3623del
NM_001407661.1:c.3619_3623del
NM_001407662.1:c.3619_3623del
NM_001407663.1:c.3622_3626del
NM_001407664.1:c.3577_3581del
NM_001407665.1:c.3577_3581del
NM_001407666.1:c.3577_3581del
NM_001407667.1:c.3577_3581del
NM_001407668.1:c.3577_3581del
NM_001407669.1:c.3577_3581del
NM_001407670.1:c.3574_3578del
NM_001407671.1:c.3574_3578del
NM_001407672.1:c.3574_3578del
NM_001407673.1:c.3574_3578del
NM_001407674.1:c.3577_3581del
NM_001407675.1:c.3577_3581del
NM_001407676.1:c.3577_3581del
NM_001407677.1:c.3577_3581del
NM_001407678.1:c.3577_3581del
NM_001407679.1:c.3577_3581del
NM_001407680.1:c.3577_3581del
NM_001407681.1:c.3577_3581del
NM_001407682.1:c.3577_3581del
NM_001407683.1:c.3577_3581del
NM_001407684.1:c.3700_3704del
NM_001407685.1:c.3574_3578del
NM_001407686.1:c.3574_3578del
NM_001407687.1:c.3574_3578del
NM_001407688.1:c.3574_3578del
NM_001407689.1:c.3574_3578del
NM_001407690.1:c.3574_3578del
NM_001407691.1:c.3574_3578del
NM_001407692.1:c.3559_3563del
NM_001407694.1:c.3559_3563del
NM_001407695.1:c.3559_3563del
NM_001407696.1:c.3559_3563del
NM_001407697.1:c.3559_3563del
NM_001407698.1:c.3559_3563del
NM_001407724.1:c.3559_3563del
NM_001407725.1:c.3559_3563del
NM_001407726.1:c.3559_3563del
NM_001407727.1:c.3559_3563del
NM_001407728.1:c.3559_3563del
NM_001407729.1:c.3559_3563del
NM_001407730.1:c.3559_3563del
NM_001407731.1:c.3559_3563del
NM_001407732.1:c.3559_3563del
NM_001407733.1:c.3559_3563del
NM_001407734.1:c.3559_3563del
NM_001407735.1:c.3559_3563del
NM_001407736.1:c.3559_3563del
NM_001407737.1:c.3559_3563del
NM_001407738.1:c.3559_3563del
NM_001407739.1:c.3559_3563del
NM_001407740.1:c.3556_3560del
NM_001407741.1:c.3556_3560del
NM_001407742.1:c.3556_3560del
NM_001407743.1:c.3556_3560del
NM_001407744.1:c.3556_3560del
NM_001407745.1:c.3556_3560del
NM_001407746.1:c.3556_3560del
NM_001407747.1:c.3556_3560del
NM_001407748.1:c.3556_3560del
NM_001407749.1:c.3556_3560del
NM_001407750.1:c.3559_3563del
NM_001407751.1:c.3559_3563del
NM_001407752.1:c.3559_3563del
NM_001407838.1:c.3556_3560del
NM_001407839.1:c.3556_3560del
NM_001407841.1:c.3556_3560del
NM_001407842.1:c.3556_3560del
NM_001407843.1:c.3556_3560del
NM_001407844.1:c.3556_3560del
NM_001407845.1:c.3556_3560del
NM_001407846.1:c.3556_3560del
NM_001407847.1:c.3556_3560del
NM_001407848.1:c.3556_3560del
NM_001407849.1:c.3556_3560del
NM_001407850.1:c.3559_3563del
NM_001407851.1:c.3559_3563del
NM_001407852.1:c.3559_3563del
NM_001407853.1:c.3487_3491del
NM_001407854.1:c.3700_3704del
NM_001407858.1:c.3700_3704del
NM_001407859.1:c.3700_3704del
NM_001407860.1:c.3697_3701del
NM_001407861.1:c.3697_3701del
NM_001407862.1:c.3499_3503del
NM_001407863.1:c.3577_3581del
NM_001407874.1:c.3496_3500del
NM_001407875.1:c.3496_3500del
NM_001407879.1:c.3490_3494del
NM_001407881.1:c.3490_3494del
NM_001407882.1:c.3490_3494del
NM_001407884.1:c.3490_3494del
NM_001407885.1:c.3490_3494del
NM_001407886.1:c.3490_3494del
NM_001407887.1:c.3490_3494del
NM_001407889.1:c.3490_3494del
NM_001407894.1:c.3487_3491del
NM_001407895.1:c.3487_3491del
NM_001407896.1:c.3487_3491del
NM_001407897.1:c.3487_3491del
NM_001407898.1:c.3487_3491del
NM_001407899.1:c.3487_3491del
NM_001407900.1:c.3490_3494del
NM_001407902.1:c.3490_3494del
NM_001407904.1:c.3490_3494del
NM_001407906.1:c.3490_3494del
NM_001407907.1:c.3490_3494del
NM_001407908.1:c.3490_3494del
NM_001407909.1:c.3490_3494del
NM_001407910.1:c.3490_3494del
NM_001407915.1:c.3487_3491del
NM_001407916.1:c.3487_3491del
NM_001407917.1:c.3487_3491del
NM_001407918.1:c.3487_3491del
NM_001407919.1:c.3577_3581del
NM_001407920.1:c.3436_3440del
NM_001407921.1:c.3436_3440del
NM_001407922.1:c.3436_3440del
NM_001407923.1:c.3436_3440del
NM_001407924.1:c.3436_3440del
NM_001407925.1:c.3436_3440del
NM_001407926.1:c.3436_3440del
NM_001407927.1:c.3436_3440del
NM_001407928.1:c.3436_3440del
NM_001407929.1:c.3436_3440del
NM_001407930.1:c.3433_3437del
NM_001407931.1:c.3433_3437del
NM_001407932.1:c.3433_3437del
NM_001407933.1:c.3436_3440del
NM_001407934.1:c.3433_3437del
NM_001407935.1:c.3436_3440del
NM_001407936.1:c.3433_3437del
NM_001407937.1:c.3577_3581del
NM_001407938.1:c.3577_3581del
NM_001407939.1:c.3577_3581del
NM_001407940.1:c.3574_3578del
NM_001407941.1:c.3574_3578del
NM_001407942.1:c.3559_3563del
NM_001407943.1:c.3556_3560del
NM_001407944.1:c.3559_3563del
NM_001407945.1:c.3559_3563del
NM_001407946.1:c.3367_3371del
NM_001407947.1:c.3367_3371del
NM_001407948.1:c.3367_3371del
NM_001407949.1:c.3367_3371del
NM_001407950.1:c.3367_3371del
NM_001407951.1:c.3367_3371del
NM_001407952.1:c.3367_3371del
NM_001407953.1:c.3367_3371del
NM_001407954.1:c.3364_3368del
NM_001407955.1:c.3364_3368del
NM_001407956.1:c.3364_3368del
NM_001407957.1:c.3367_3371del
NM_001407958.1:c.3364_3368del
NM_001407959.1:c.3319_3323del
NM_001407960.1:c.3319_3323del
NM_001407962.1:c.3316_3320del
NM_001407963.1:c.3319_3323del
NM_001407964.1:c.3556_3560del
NM_001407965.1:c.3196_3200del
NM_001407966.1:c.2812_2816del
NM_001407967.1:c.2812_2816del
NM_001407968.1:c.1096_1100del
NM_001407969.1:c.1096_1100del
NM_001407970.1:c.788-799_788-795del
NM_001407971.1:c.788-799_788-795del
NM_001407972.1:c.785-799_785-795del
NM_001407973.1:c.788-799_788-795del
NM_001407974.1:c.788-799_788-795del
NM_001407975.1:c.788-799_788-795del
NM_001407976.1:c.788-799_788-795del
NM_001407977.1:c.788-799_788-795del
NM_001407978.1:c.788-799_788-795del
NM_001407979.1:c.788-799_788-795del
NM_001407980.1:c.788-799_788-795del
NM_001407981.1:c.788-799_788-795del
NM_001407982.1:c.788-799_788-795del
NM_001407983.1:c.788-799_788-795del
NM_001407984.1:c.785-799_785-795del
NM_001407985.1:c.785-799_785-795del
NM_001407986.1:c.785-799_785-795del
NM_001407990.1:c.788-799_788-795del
NM_001407991.1:c.785-799_785-795del
NM_001407992.1:c.785-799_785-795del
NM_001407993.1:c.788-799_788-795del
NM_001408392.1:c.785-799_785-795del
NM_001408396.1:c.785-799_785-795del
NM_001408397.1:c.785-799_785-795del
NM_001408398.1:c.785-799_785-795del
NM_001408399.1:c.785-799_785-795del
NM_001408400.1:c.785-799_785-795del
NM_001408401.1:c.785-799_785-795del
NM_001408402.1:c.785-799_785-795del
NM_001408403.1:c.788-799_788-795del
NM_001408404.1:c.788-799_788-795del
NM_001408406.1:c.791-808_791-804del
NM_001408407.1:c.785-799_785-795del
NM_001408408.1:c.779-799_779-795del
NM_001408409.1:c.710-799_710-795del
NM_001408410.1:c.647-799_647-795del
NM_001408411.1:c.710-799_710-795del
NM_001408412.1:c.710-799_710-795del
NM_001408413.1:c.707-799_707-795del
NM_001408414.1:c.710-799_710-795del
NM_001408415.1:c.710-799_710-795del
NM_001408416.1:c.707-799_707-795del
NM_001408418.1:c.671-799_671-795del
NM_001408419.1:c.671-799_671-795del
NM_001408420.1:c.671-799_671-795del
NM_001408421.1:c.668-799_668-795del
NM_001408422.1:c.671-799_671-795del
NM_001408423.1:c.671-799_671-795del
NM_001408424.1:c.668-799_668-795del
NM_001408425.1:c.665-799_665-795del
NM_001408426.1:c.665-799_665-795del
NM_001408427.1:c.665-799_665-795del
NM_001408428.1:c.665-799_665-795del
NM_001408429.1:c.665-799_665-795del
NM_001408430.1:c.665-799_665-795del
NM_001408431.1:c.668-799_668-795del
NM_001408432.1:c.662-799_662-795del
NM_001408433.1:c.662-799_662-795del
NM_001408434.1:c.662-799_662-795del
NM_001408435.1:c.662-799_662-795del
NM_001408436.1:c.665-799_665-795del
NM_001408437.1:c.665-799_665-795del
NM_001408438.1:c.665-799_665-795del
NM_001408439.1:c.665-799_665-795del
NM_001408440.1:c.665-799_665-795del
NM_001408441.1:c.665-799_665-795del
NM_001408442.1:c.665-799_665-795del
NM_001408443.1:c.665-799_665-795del
NM_001408444.1:c.665-799_665-795del
NM_001408445.1:c.662-799_662-795del
NM_001408446.1:c.662-799_662-795del
NM_001408447.1:c.662-799_662-795del
NM_001408448.1:c.662-799_662-795del
NM_001408450.1:c.662-799_662-795del
NM_001408451.1:c.653-799_653-795del
NM_001408452.1:c.647-799_647-795del
NM_001408453.1:c.647-799_647-795del
NM_001408454.1:c.647-799_647-795del
NM_001408455.1:c.647-799_647-795del
NM_001408456.1:c.647-799_647-795del
NM_001408457.1:c.647-799_647-795del
NM_001408458.1:c.647-799_647-795del
NM_001408459.1:c.647-799_647-795del
NM_001408460.1:c.647-799_647-795del
NM_001408461.1:c.647-799_647-795del
NM_001408462.1:c.644-799_644-795del
NM_001408463.1:c.644-799_644-795del
NM_001408464.1:c.644-799_644-795del
NM_001408465.1:c.644-799_644-795del
NM_001408466.1:c.647-799_647-795del
NM_001408467.1:c.647-799_647-795del
NM_001408468.1:c.644-799_644-795del
NM_001408469.1:c.647-799_647-795del
NM_001408470.1:c.644-799_644-795del
NM_001408472.1:c.788-799_788-795del
NM_001408473.1:c.785-799_785-795del
NM_001408474.1:c.587-799_587-795del
NM_001408475.1:c.584-799_584-795del
NM_001408476.1:c.587-799_587-795del
NM_001408478.1:c.578-799_578-795del
NM_001408479.1:c.578-799_578-795del
NM_001408480.1:c.578-799_578-795del
NM_001408481.1:c.578-799_578-795del
NM_001408482.1:c.578-799_578-795del
NM_001408483.1:c.578-799_578-795del
NM_001408484.1:c.578-799_578-795del
NM_001408485.1:c.578-799_578-795del
NM_001408489.1:c.578-799_578-795del
NM_001408490.1:c.575-799_575-795del
NM_001408491.1:c.575-799_575-795del
NM_001408492.1:c.578-799_578-795del
NM_001408493.1:c.575-799_575-795del
NM_001408494.1:c.548-799_548-795del
NM_001408495.1:c.545-799_545-795del
NM_001408496.1:c.524-799_524-795del
NM_001408497.1:c.524-799_524-795del
NM_001408498.1:c.524-799_524-795del
NM_001408499.1:c.524-799_524-795del
NM_001408500.1:c.524-799_524-795del
NM_001408501.1:c.524-799_524-795del
NM_001408502.1:c.455-799_455-795del
NM_001408503.1:c.521-799_521-795del
NM_001408504.1:c.521-799_521-795del
NM_001408505.1:c.521-799_521-795del
NM_001408506.1:c.461-799_461-795del
NM_001408507.1:c.461-799_461-795del
NM_001408508.1:c.452-799_452-795del
NM_001408509.1:c.452-799_452-795del
NM_001408510.1:c.407-799_407-795del
NM_001408511.1:c.404-799_404-795del
NM_001408512.1:c.284-799_284-795del
NM_001408513.1:c.578-799_578-795del
NM_001408514.1:c.578-799_578-795del
NM_007294.4:c.3700_3704delMANE SELECT
NM_007297.4:c.3559_3563del
NM_007298.4:c.788-799_788-795del
NM_007299.4:c.788-799_788-795del
NM_007300.4:c.3700_3704del
NP_001394500.1:p.Val1163fs
NP_001394510.1:p.Val1234fs
NP_001394511.1:p.Val1234fs
NP_001394512.1:p.Val1234fs
NP_001394514.1:p.Val1234fs
NP_001394516.1:p.Val1233fs
NP_001394519.1:p.Val1233fs
NP_001394520.1:p.Val1233fs
NP_001394522.1:p.Val1234fs
NP_001394523.1:p.Val1234fs
NP_001394525.1:p.Val1234fs
NP_001394526.1:p.Val1234fs
NP_001394527.1:p.Val1234fs
NP_001394531.1:p.Val1234fs
NP_001394532.1:p.Val1234fs
NP_001394534.1:p.Val1234fs
NP_001394539.1:p.Val1233fs
NP_001394540.1:p.Val1233fs
NP_001394541.1:p.Val1233fs
NP_001394542.1:p.Val1233fs
NP_001394543.1:p.Val1233fs
NP_001394544.1:p.Val1233fs
NP_001394545.1:p.Val1234fs
NP_001394546.1:p.Val1234fs
NP_001394547.1:p.Val1234fs
NP_001394548.1:p.Val1234fs
NP_001394549.1:p.Val1234fs
NP_001394550.1:p.Val1234fs
NP_001394551.1:p.Val1234fs
NP_001394552.1:p.Val1234fs
NP_001394553.1:p.Val1234fs
NP_001394554.1:p.Val1234fs
NP_001394555.1:p.Val1234fs
NP_001394556.1:p.Val1233fs
NP_001394557.1:p.Val1233fs
NP_001394558.1:p.Val1233fs
NP_001394559.1:p.Val1233fs
NP_001394560.1:p.Val1233fs
NP_001394561.1:p.Val1233fs
NP_001394562.1:p.Val1233fs
NP_001394563.1:p.Val1233fs
NP_001394564.1:p.Val1233fs
NP_001394565.1:p.Val1233fs
NP_001394566.1:p.Val1233fs
NP_001394567.1:p.Val1233fs
NP_001394568.1:p.Val1234fs
NP_001394569.1:p.Val1234fs
NP_001394570.1:p.Val1234fs
NP_001394571.1:p.Val1234fs
NP_001394573.1:p.Val1233fs
NP_001394574.1:p.Val1233fs
NP_001394575.1:p.Val1231fs
NP_001394576.1:p.Val1231fs
NP_001394577.1:p.Val1193fs
NP_001394578.1:p.Val1192fs
NP_001394581.1:p.Val1234fs
NP_001394582.1:p.Val1208fs
NP_001394583.1:p.Val1208fs
NP_001394584.1:p.Val1208fs
NP_001394585.1:p.Val1208fs
NP_001394586.1:p.Val1208fs
NP_001394587.1:p.Val1208fs
NP_001394588.1:p.Val1207fs
NP_001394589.1:p.Val1207fs
NP_001394590.1:p.Val1207fs
NP_001394591.1:p.Val1207fs
NP_001394592.1:p.Val1208fs
NP_001394593.1:p.Val1193fs
NP_001394594.1:p.Val1193fs
NP_001394595.1:p.Val1193fs
NP_001394596.1:p.Val1193fs
NP_001394597.1:p.Val1193fs
NP_001394598.1:p.Val1193fs
NP_001394599.1:p.Val1192fs
NP_001394600.1:p.Val1192fs
NP_001394601.1:p.Val1192fs
NP_001394602.1:p.Val1192fs
NP_001394603.1:p.Val1193fs
NP_001394604.1:p.Val1193fs
NP_001394605.1:p.Val1193fs
NP_001394606.1:p.Val1193fs
NP_001394607.1:p.Val1193fs
NP_001394608.1:p.Val1193fs
NP_001394609.1:p.Val1193fs
NP_001394610.1:p.Val1193fs
NP_001394611.1:p.Val1193fs
NP_001394612.1:p.Val1193fs
NP_001394613.1:p.Val1234fs
NP_001394614.1:p.Val1192fs
NP_001394615.1:p.Val1192fs
NP_001394616.1:p.Val1192fs
NP_001394617.1:p.Val1192fs
NP_001394618.1:p.Val1192fs
NP_001394619.1:p.Val1192fs
NP_001394620.1:p.Val1192fs
NP_001394621.1:p.Val1187fs
NP_001394623.1:p.Val1187fs
NP_001394624.1:p.Val1187fs
NP_001394625.1:p.Val1187fs
NP_001394626.1:p.Val1187fs
NP_001394627.1:p.Val1187fs
NP_001394653.1:p.Val1187fs
NP_001394654.1:p.Val1187fs
NP_001394655.1:p.Val1187fs
NP_001394656.1:p.Val1187fs
NP_001394657.1:p.Val1187fs
NP_001394658.1:p.Val1187fs
NP_001394659.1:p.Val1187fs
NP_001394660.1:p.Val1187fs
NP_001394661.1:p.Val1187fs
NP_001394662.1:p.Val1187fs
NP_001394663.1:p.Val1187fs
NP_001394664.1:p.Val1187fs
NP_001394665.1:p.Val1187fs
NP_001394666.1:p.Val1187fs
NP_001394667.1:p.Val1187fs
NP_001394668.1:p.Val1187fs
NP_001394669.1:p.Val1186fs
NP_001394670.1:p.Val1186fs
NP_001394671.1:p.Val1186fs
NP_001394672.1:p.Val1186fs
NP_001394673.1:p.Val1186fs
NP_001394674.1:p.Val1186fs
NP_001394675.1:p.Val1186fs
NP_001394676.1:p.Val1186fs
NP_001394677.1:p.Val1186fs
NP_001394678.1:p.Val1186fs
NP_001394679.1:p.Val1187fs
NP_001394680.1:p.Val1187fs
NP_001394681.1:p.Val1187fs
NP_001394767.1:p.Val1186fs
NP_001394768.1:p.Val1186fs
NP_001394770.1:p.Val1186fs
NP_001394771.1:p.Val1186fs
NP_001394772.1:p.Val1186fs
NP_001394773.1:p.Val1186fs
NP_001394774.1:p.Val1186fs
NP_001394775.1:p.Val1186fs
NP_001394776.1:p.Val1186fs
NP_001394777.1:p.Val1186fs
NP_001394778.1:p.Val1186fs
NP_001394779.1:p.Val1187fs
NP_001394780.1:p.Val1187fs
NP_001394781.1:p.Val1187fs
NP_001394782.1:p.Val1163fs
NP_001394783.1:p.Val1234fs
NP_001394787.1:p.Val1234fs
NP_001394788.1:p.Val1234fs
NP_001394789.1:p.Val1233fs
NP_001394790.1:p.Val1233fs
NP_001394791.1:p.Val1167fs
NP_001394792.1:p.Val1193fs
NP_001394803.1:p.Val1166fs
NP_001394804.1:p.Val1166fs
NP_001394808.1:p.Val1164fs
NP_001394810.1:p.Val1164fs
NP_001394811.1:p.Val1164fs
NP_001394813.1:p.Val1164fs
NP_001394814.1:p.Val1164fs
NP_001394815.1:p.Val1164fs
NP_001394816.1:p.Val1164fs
NP_001394818.1:p.Val1164fs
NP_001394823.1:p.Val1163fs
NP_001394824.1:p.Val1163fs
NP_001394825.1:p.Val1163fs
NP_001394826.1:p.Val1163fs
NP_001394827.1:p.Val1163fs
NP_001394828.1:p.Val1163fs
NP_001394829.1:p.Val1164fs
NP_001394831.1:p.Val1164fs
NP_001394833.1:p.Val1164fs
NP_001394835.1:p.Val1164fs
NP_001394836.1:p.Val1164fs
NP_001394837.1:p.Val1164fs
NP_001394838.1:p.Val1164fs
NP_001394839.1:p.Val1164fs
NP_001394844.1:p.Val1163fs
NP_001394845.1:p.Val1163fs
NP_001394846.1:p.Val1163fs
NP_001394847.1:p.Val1163fs
NP_001394848.1:p.Val1193fs
NP_001394849.1:p.Val1146fs
NP_001394850.1:p.Val1146fs
NP_001394851.1:p.Val1146fs
NP_001394852.1:p.Val1146fs
NP_001394853.1:p.Val1146fs
NP_001394854.1:p.Val1146fs
NP_001394855.1:p.Val1146fs
NP_001394856.1:p.Val1146fs
NP_001394857.1:p.Val1146fs
NP_001394858.1:p.Val1146fs
NP_001394859.1:p.Val1145fs
NP_001394860.1:p.Val1145fs
NP_001394861.1:p.Val1145fs
NP_001394862.1:p.Val1146fs
NP_001394863.1:p.Val1145fs
NP_001394864.1:p.Val1146fs
NP_001394865.1:p.Val1145fs
NP_001394866.1:p.Val1193fs
NP_001394867.1:p.Val1193fs
NP_001394868.1:p.Val1193fs
NP_001394869.1:p.Val1192fs
NP_001394870.1:p.Val1192fs
NP_001394871.1:p.Val1187fs
NP_001394872.1:p.Val1186fs
NP_001394873.1:p.Val1187fs
NP_001394874.1:p.Val1187fs
NP_001394875.1:p.Val1123fs
NP_001394876.1:p.Val1123fs
NP_001394877.1:p.Val1123fs
NP_001394878.1:p.Val1123fs
NP_001394879.1:p.Val1123fs
NP_001394880.1:p.Val1123fs
NP_001394881.1:p.Val1123fs
NP_001394882.1:p.Val1123fs
NP_001394883.1:p.Val1122fs
NP_001394884.1:p.Val1122fs
NP_001394885.1:p.Val1122fs
NP_001394886.1:p.Val1123fs
NP_001394887.1:p.Val1122fs
NP_001394888.1:p.Val1107fs
NP_001394889.1:p.Val1107fs
NP_001394891.1:p.Val1106fs
NP_001394892.1:p.Val1107fs
NP_001394893.1:p.Val1186fs
NP_001394894.1:p.Val1066fs
NP_001394895.1:p.Val938fs
NP_001394896.1:p.Val938fs
NP_001394897.1:p.Val366fs
NP_001394898.1:p.Val366fs
NP_009225.1:p.Val1234Glnfs
NP_009225.1:p.Val1234fs
NP_009228.2:p.Val1187fs
NP_009231.2:p.Val1234fs
LRG_292t1:c.3695_3699GTAAA[1]
LRG_292:g.126148GTAAA[1]
LRG_292p1:p.Val1234Glnfs
NC_000017.10:g.41243844TTTAC[1]
NC_000017.10:g.41243844_41243848del
NC_000017.10:g.41243844_41243848delTTTAC
NC_000017.10:g.41243849_41243853del
NC_000017.10:g.41243849_41243853delTTTAC
NC_000017.10:g.41243849_41243853delTTTAC
NM_007294.3:c.3695_3699GTAAA[1]
NM_007294.3:c.3700_3704delGTAAA
NM_007294.4:c.3700_3704delGTAAA
NR_027676.1:n.3831_3835GTAAA[1]
U14680.1:n.3819_3823delGTAAA
p.V1234Qfs*8
p.Val1234Glnfs*8
p.Val1234GlnfsX8

Nucleotide change:

3819del5

Protein change:

V1066fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 3819&base_change=del GTAAA; dbSNP: rs80357609

NCBI 1000 Genomes Browser:

rs80357609

Molecular consequence:

NM_001407571.1:c.3487_3491del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.3697_3701del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.3697_3701del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.3697_3701del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.3697_3701del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.3697_3701del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.3697_3701del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.3697_3701del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.3697_3701del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.3697_3701del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.3697_3701del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.3697_3701del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.3697_3701del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.3697_3701del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.3697_3701del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.3697_3701del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.3697_3701del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.3697_3701del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.3697_3701del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.3697_3701del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.3697_3701del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.3697_3701del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.3697_3701del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.3697_3701del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.3691_3695del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.3691_3695del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.3577_3581del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.3574_3578del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.3622_3626del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.3622_3626del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.3622_3626del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.3622_3626del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.3622_3626del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.3622_3626del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.3619_3623del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.3619_3623del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.3619_3623del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.3619_3623del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.3622_3626del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.3577_3581del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.3577_3581del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.3577_3581del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.3577_3581del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.3577_3581del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.3577_3581del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.3574_3578del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.3574_3578del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.3574_3578del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.3574_3578del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.3577_3581del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.3577_3581del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.3577_3581del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.3577_3581del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.3577_3581del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.3577_3581del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.3577_3581del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.3577_3581del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.3577_3581del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.3577_3581del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.3574_3578del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.3574_3578del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.3574_3578del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.3574_3578del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.3574_3578del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.3574_3578del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.3574_3578del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.3556_3560del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.3556_3560del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.3556_3560del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.3556_3560del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.3556_3560del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.3556_3560del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.3556_3560del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.3556_3560del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.3556_3560del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.3556_3560del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.3556_3560del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.3556_3560del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.3556_3560del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.3556_3560del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.3556_3560del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.3556_3560del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.3556_3560del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.3556_3560del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.3556_3560del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.3556_3560del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.3556_3560del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.3487_3491del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.3697_3701del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.3697_3701del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.3499_3503del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.3577_3581del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.3496_3500del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.3496_3500del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.3490_3494del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.3490_3494del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.3490_3494del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.3490_3494del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.3490_3494del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.3490_3494del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.3490_3494del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.3490_3494del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.3487_3491del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.3487_3491del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.3487_3491del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.3487_3491del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.3487_3491del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.3487_3491del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.3490_3494del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.3490_3494del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.3490_3494del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.3490_3494del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.3490_3494del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.3490_3494del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.3490_3494del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.3490_3494del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.3487_3491del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.3487_3491del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.3487_3491del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.3487_3491del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.3577_3581del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.3436_3440del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.3436_3440del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.3436_3440del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.3436_3440del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.3436_3440del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.3436_3440del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.3436_3440del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.3436_3440del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.3436_3440del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.3436_3440del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.3433_3437del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.3433_3437del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.3433_3437del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.3436_3440del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.3433_3437del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.3436_3440del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.3433_3437del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.3577_3581del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.3577_3581del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.3577_3581del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.3574_3578del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.3574_3578del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.3556_3560del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.3367_3371del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.3367_3371del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.3367_3371del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.3367_3371del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.3367_3371del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.3367_3371del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.3367_3371del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.3367_3371del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.3364_3368del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.3364_3368del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.3364_3368del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.3367_3371del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.3364_3368del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.3319_3323del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.3319_3323del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.3316_3320del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.3319_3323del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.3556_3560del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.3196_3200del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.2812_2816del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.2812_2816del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.1096_1100del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407969.1:c.1096_1100del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.3559_3563del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.3700_3704del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407970.1:c.788-799_788-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-799_788-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-799_785-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-799_788-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-799_788-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-799_788-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-799_788-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-799_788-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-799_788-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-799_788-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-799_788-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-799_788-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-799_788-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-799_788-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-799_785-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-799_785-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-799_785-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-799_788-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-799_785-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-799_785-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-799_788-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-799_785-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-799_785-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-799_785-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-799_785-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-799_785-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-799_785-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-799_785-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-799_785-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-799_788-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-799_788-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-808_791-804del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-799_785-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-799_779-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-799_710-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-799_647-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-799_710-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-799_710-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-799_707-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-799_710-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-799_710-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-799_707-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-799_671-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-799_671-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-799_671-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-799_668-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-799_671-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-799_671-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-799_668-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-799_665-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-799_665-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-799_665-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-799_665-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-799_665-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-799_665-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-799_668-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-799_662-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-799_662-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-799_662-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-799_662-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-799_665-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-799_665-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-799_665-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-799_665-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-799_665-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-799_665-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-799_665-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-799_665-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-799_665-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-799_662-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-799_662-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-799_662-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-799_662-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-799_662-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-799_653-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-799_647-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-799_647-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-799_647-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-799_647-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-799_647-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-799_647-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-799_647-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-799_647-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-799_647-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-799_647-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-799_644-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-799_644-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-799_644-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-799_644-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-799_647-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-799_647-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-799_644-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-799_647-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-799_644-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-799_788-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-799_785-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-799_587-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-799_584-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-799_587-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-799_578-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-799_578-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-799_578-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-799_578-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-799_578-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-799_578-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-799_578-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-799_578-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-799_578-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-799_575-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-799_575-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-799_578-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-799_575-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-799_548-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-799_545-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-799_524-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-799_524-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-799_524-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-799_524-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-799_524-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-799_524-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-799_455-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-799_521-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-799_521-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-799_521-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-799_461-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-799_461-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-799_452-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-799_452-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-799_407-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-799_404-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-799_284-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-799_578-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-799_578-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-799_788-795del - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-799_788-795del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000076300	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 9, 2024)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 20104584, 15024741, 18489799, 21324516, 23479189, 24010542, 25066507, 28492532
SCV000586894	Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency - The Canadian Open Genetics Repository (COGR)	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 18, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000587333	Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)	no assertion criteria provided	Pathogenic (Jan 31, 2014)	germline	research
SCV000605765	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Pathogenic (Jan 13, 2017)	germline	clinical testing	PubMed (8) [See all records that cite these PMIDs] 15024741, 7606717, 21503673, 25366421, 26843898, 22535016, 21324516, 24033266
SCV000699059	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Pathogenic (May 26, 2017)	germline	clinical testing	PubMed (12) [See all records that cite these PMIDs] 10788334, 11389159, 20727672, 21702907, 16267036, 24171766, 22160602, 7606717, 22685544, 21503673, 15865297, 24010542 LabCorp Variant Classification Summary - May 2015.docx Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

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

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

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

PubMed [citation]

PMID:: 20104584
PMCID:: PMC2928257

Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.

Machackova E, Foretova L, Lukesova M, Vasickova P, Navratilova M, Coene I, Pavlu H, Kosinova V, Kuklova J, Claes K.

BMC Cancer. 2008 May 20;8:140. doi: 10.1186/1471-2407-8-140.

PubMed [citation]

PMID:: 18489799
PMCID:: PMC2413254

See all PubMed Citations (24)

Details of each submission

From Invitae, SCV000076300.13

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (8)

Description

This sequence change creates a premature translational stop signal (p.Val1234Glnfs*8) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 15024741, 18489799, 21324516, 23479189, 24010542, 25066507). This variant is also known as 3819del5. ClinVar contains an entry for this variant (Variation ID: 37542). For these reasons, this variant has been classified as Pathogenic.

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

From Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency - The Canadian Open Genetics Repository (COGR), SCV000586894.1

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

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

From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587333.1

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

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

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000605765.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (8)

Description

The p.Val1234fs variant in BRCA1 has been reported in >60 individuals with BRCA1 -associated cancers (Brozek 2011, Ratajska 2015, Breast Cancer Information Core (BIC)), and was absent from large population studies. This variant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at position 1234 and leads to a premature termination codon 8 amino acids downst ream. This alteration is then predicted to lead to a truncated or absent protein . Heterozygous loss of function of function of the BRCA1 gene is an established disease mechanism in hereditary breast and ovarian cancer (HBOC). In addition, this variant was classified as Pathogenic on April 22, 2016 by the ClinGen-appro ved ENIGMA expert panel (ClinVar SCV000282314.1). In summary, the p.Val1234fs va riant meets criteria to be classified as pathogenic for HBOC in an autosomal dom inant manner.

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699059.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (12)

Description

Variant summary: The c.3700_3704delGTAAA (p.Val1234Glnfs) variant in BRCA1 gene is a frameshift change that is predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay. The variant is absent from the large control population datasets of ExAC and gnomAD (~121382 and 246014 chrs tested). The variant of interest has been reported in multiple affected individuals and was shown to segregate with the disease within the family. Multiple reputable databases/clinical laboratories and published reports cited the variant as pathogenic. Taking together, the variant was classified as Pathogenic.

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

Last Updated: Sep 16, 2024

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