NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jul 6, 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:: RCV000162862.19

Allele description [Variation Report for NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs)]

NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs)

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.3228_3229del (p.Gly1077fs)

Other names:

3347_3348delAG; NP_009225.1:p.Gly1077AlafsTer8

HGVS:

NC_000017.10:g.41244319_41244320del
NC_000017.11:g.43092302CT[1]
NG_005905.2:g.125679AG[1]
NG_087068.1:g.1284CT[1]
NM_001407571.1:c.3015_3016del
NM_001407581.1:c.3228_3229del
NM_001407582.1:c.3228_3229del
NM_001407583.1:c.3228_3229del
NM_001407585.1:c.3228_3229del
NM_001407587.1:c.3225_3226del
NM_001407590.1:c.3225_3226del
NM_001407591.1:c.3225_3226del
NM_001407593.1:c.3228_3229del
NM_001407594.1:c.3228_3229del
NM_001407596.1:c.3228_3229del
NM_001407597.1:c.3228_3229del
NM_001407598.1:c.3228_3229del
NM_001407602.1:c.3228_3229del
NM_001407603.1:c.3228_3229del
NM_001407605.1:c.3228_3229del
NM_001407610.1:c.3225_3226del
NM_001407611.1:c.3225_3226del
NM_001407612.1:c.3225_3226del
NM_001407613.1:c.3225_3226del
NM_001407614.1:c.3225_3226del
NM_001407615.1:c.3225_3226del
NM_001407616.1:c.3228_3229del
NM_001407617.1:c.3228_3229del
NM_001407618.1:c.3228_3229del
NM_001407619.1:c.3228_3229del
NM_001407620.1:c.3228_3229del
NM_001407621.1:c.3228_3229del
NM_001407622.1:c.3228_3229del
NM_001407623.1:c.3228_3229del
NM_001407624.1:c.3228_3229del
NM_001407625.1:c.3228_3229del
NM_001407626.1:c.3228_3229del
NM_001407627.1:c.3225_3226del
NM_001407628.1:c.3225_3226del
NM_001407629.1:c.3225_3226del
NM_001407630.1:c.3225_3226del
NM_001407631.1:c.3225_3226del
NM_001407632.1:c.3225_3226del
NM_001407633.1:c.3225_3226del
NM_001407634.1:c.3225_3226del
NM_001407635.1:c.3225_3226del
NM_001407636.1:c.3225_3226del
NM_001407637.1:c.3225_3226del
NM_001407638.1:c.3225_3226del
NM_001407639.1:c.3228_3229del
NM_001407640.1:c.3228_3229del
NM_001407641.1:c.3228_3229del
NM_001407642.1:c.3228_3229del
NM_001407644.1:c.3225_3226del
NM_001407645.1:c.3225_3226del
NM_001407646.1:c.3219_3220del
NM_001407647.1:c.3219_3220del
NM_001407648.1:c.3105_3106del
NM_001407649.1:c.3102_3103del
NM_001407652.1:c.3228_3229del
NM_001407653.1:c.3150_3151del
NM_001407654.1:c.3150_3151del
NM_001407655.1:c.3150_3151del
NM_001407656.1:c.3150_3151del
NM_001407657.1:c.3150_3151del
NM_001407658.1:c.3150_3151del
NM_001407659.1:c.3147_3148del
NM_001407660.1:c.3147_3148del
NM_001407661.1:c.3147_3148del
NM_001407662.1:c.3147_3148del
NM_001407663.1:c.3150_3151del
NM_001407664.1:c.3105_3106del
NM_001407665.1:c.3105_3106del
NM_001407666.1:c.3105_3106del
NM_001407667.1:c.3105_3106del
NM_001407668.1:c.3105_3106del
NM_001407669.1:c.3105_3106del
NM_001407670.1:c.3102_3103del
NM_001407671.1:c.3102_3103del
NM_001407672.1:c.3102_3103del
NM_001407673.1:c.3102_3103del
NM_001407674.1:c.3105_3106del
NM_001407675.1:c.3105_3106del
NM_001407676.1:c.3105_3106del
NM_001407677.1:c.3105_3106del
NM_001407678.1:c.3105_3106del
NM_001407679.1:c.3105_3106del
NM_001407680.1:c.3105_3106del
NM_001407681.1:c.3105_3106del
NM_001407682.1:c.3105_3106del
NM_001407683.1:c.3105_3106del
NM_001407684.1:c.3228_3229del
NM_001407685.1:c.3102_3103del
NM_001407686.1:c.3102_3103del
NM_001407687.1:c.3102_3103del
NM_001407688.1:c.3102_3103del
NM_001407689.1:c.3102_3103del
NM_001407690.1:c.3102_3103del
NM_001407691.1:c.3102_3103del
NM_001407692.1:c.3087_3088del
NM_001407694.1:c.3087_3088del
NM_001407695.1:c.3087_3088del
NM_001407696.1:c.3087_3088del
NM_001407697.1:c.3087_3088del
NM_001407698.1:c.3087_3088del
NM_001407724.1:c.3087_3088del
NM_001407725.1:c.3087_3088del
NM_001407726.1:c.3087_3088del
NM_001407727.1:c.3087_3088del
NM_001407728.1:c.3087_3088del
NM_001407729.1:c.3087_3088del
NM_001407730.1:c.3087_3088del
NM_001407731.1:c.3087_3088del
NM_001407732.1:c.3087_3088del
NM_001407733.1:c.3087_3088del
NM_001407734.1:c.3087_3088del
NM_001407735.1:c.3087_3088del
NM_001407736.1:c.3087_3088del
NM_001407737.1:c.3087_3088del
NM_001407738.1:c.3087_3088del
NM_001407739.1:c.3087_3088del
NM_001407740.1:c.3084_3085del
NM_001407741.1:c.3084_3085del
NM_001407742.1:c.3084_3085del
NM_001407743.1:c.3084_3085del
NM_001407744.1:c.3084_3085del
NM_001407745.1:c.3084_3085del
NM_001407746.1:c.3084_3085del
NM_001407747.1:c.3084_3085del
NM_001407748.1:c.3084_3085del
NM_001407749.1:c.3084_3085del
NM_001407750.1:c.3087_3088del
NM_001407751.1:c.3087_3088del
NM_001407752.1:c.3087_3088del
NM_001407838.1:c.3084_3085del
NM_001407839.1:c.3084_3085del
NM_001407841.1:c.3084_3085del
NM_001407842.1:c.3084_3085del
NM_001407843.1:c.3084_3085del
NM_001407844.1:c.3084_3085del
NM_001407845.1:c.3084_3085del
NM_001407846.1:c.3084_3085del
NM_001407847.1:c.3084_3085del
NM_001407848.1:c.3084_3085del
NM_001407849.1:c.3084_3085del
NM_001407850.1:c.3087_3088del
NM_001407851.1:c.3087_3088del
NM_001407852.1:c.3087_3088del
NM_001407853.1:c.3015_3016del
NM_001407854.1:c.3228_3229del
NM_001407858.1:c.3228_3229del
NM_001407859.1:c.3228_3229del
NM_001407860.1:c.3225_3226del
NM_001407861.1:c.3225_3226del
NM_001407862.1:c.3027_3028del
NM_001407863.1:c.3105_3106del
NM_001407874.1:c.3024_3025del
NM_001407875.1:c.3024_3025del
NM_001407879.1:c.3018_3019del
NM_001407881.1:c.3018_3019del
NM_001407882.1:c.3018_3019del
NM_001407884.1:c.3018_3019del
NM_001407885.1:c.3018_3019del
NM_001407886.1:c.3018_3019del
NM_001407887.1:c.3018_3019del
NM_001407889.1:c.3018_3019del
NM_001407894.1:c.3015_3016del
NM_001407895.1:c.3015_3016del
NM_001407896.1:c.3015_3016del
NM_001407897.1:c.3015_3016del
NM_001407898.1:c.3015_3016del
NM_001407899.1:c.3015_3016del
NM_001407900.1:c.3018_3019del
NM_001407902.1:c.3018_3019del
NM_001407904.1:c.3018_3019del
NM_001407906.1:c.3018_3019del
NM_001407907.1:c.3018_3019del
NM_001407908.1:c.3018_3019del
NM_001407909.1:c.3018_3019del
NM_001407910.1:c.3018_3019del
NM_001407915.1:c.3015_3016del
NM_001407916.1:c.3015_3016del
NM_001407917.1:c.3015_3016del
NM_001407918.1:c.3015_3016del
NM_001407919.1:c.3105_3106del
NM_001407920.1:c.2964_2965del
NM_001407921.1:c.2964_2965del
NM_001407922.1:c.2964_2965del
NM_001407923.1:c.2964_2965del
NM_001407924.1:c.2964_2965del
NM_001407925.1:c.2964_2965del
NM_001407926.1:c.2964_2965del
NM_001407927.1:c.2964_2965del
NM_001407928.1:c.2964_2965del
NM_001407929.1:c.2964_2965del
NM_001407930.1:c.2961_2962del
NM_001407931.1:c.2961_2962del
NM_001407932.1:c.2961_2962del
NM_001407933.1:c.2964_2965del
NM_001407934.1:c.2961_2962del
NM_001407935.1:c.2964_2965del
NM_001407936.1:c.2961_2962del
NM_001407937.1:c.3105_3106del
NM_001407938.1:c.3105_3106del
NM_001407939.1:c.3105_3106del
NM_001407940.1:c.3102_3103del
NM_001407941.1:c.3102_3103del
NM_001407942.1:c.3087_3088del
NM_001407943.1:c.3084_3085del
NM_001407944.1:c.3087_3088del
NM_001407945.1:c.3087_3088del
NM_001407946.1:c.2895_2896del
NM_001407947.1:c.2895_2896del
NM_001407948.1:c.2895_2896del
NM_001407949.1:c.2895_2896del
NM_001407950.1:c.2895_2896del
NM_001407951.1:c.2895_2896del
NM_001407952.1:c.2895_2896del
NM_001407953.1:c.2895_2896del
NM_001407954.1:c.2892_2893del
NM_001407955.1:c.2892_2893del
NM_001407956.1:c.2892_2893del
NM_001407957.1:c.2895_2896del
NM_001407958.1:c.2892_2893del
NM_001407959.1:c.2847_2848del
NM_001407960.1:c.2847_2848del
NM_001407962.1:c.2844_2845del
NM_001407963.1:c.2847_2848del
NM_001407964.1:c.3084_3085del
NM_001407965.1:c.2724_2725del
NM_001407966.1:c.2340_2341del
NM_001407967.1:c.2340_2341del
NM_001407968.1:c.788-164_788-163del
NM_001407969.1:c.788-164_788-163del
NM_001407970.1:c.788-1271_788-1270del
NM_001407971.1:c.788-1271_788-1270del
NM_001407972.1:c.785-1271_785-1270del
NM_001407973.1:c.788-1271_788-1270del
NM_001407974.1:c.788-1271_788-1270del
NM_001407975.1:c.788-1271_788-1270del
NM_001407976.1:c.788-1271_788-1270del
NM_001407977.1:c.788-1271_788-1270del
NM_001407978.1:c.788-1271_788-1270del
NM_001407979.1:c.788-1271_788-1270del
NM_001407980.1:c.788-1271_788-1270del
NM_001407981.1:c.788-1271_788-1270del
NM_001407982.1:c.788-1271_788-1270del
NM_001407983.1:c.788-1271_788-1270del
NM_001407984.1:c.785-1271_785-1270del
NM_001407985.1:c.785-1271_785-1270del
NM_001407986.1:c.785-1271_785-1270del
NM_001407990.1:c.788-1271_788-1270del
NM_001407991.1:c.785-1271_785-1270del
NM_001407992.1:c.785-1271_785-1270del
NM_001407993.1:c.788-1271_788-1270del
NM_001408392.1:c.785-1271_785-1270del
NM_001408396.1:c.785-1271_785-1270del
NM_001408397.1:c.785-1271_785-1270del
NM_001408398.1:c.785-1271_785-1270del
NM_001408399.1:c.785-1271_785-1270del
NM_001408400.1:c.785-1271_785-1270del
NM_001408401.1:c.785-1271_785-1270del
NM_001408402.1:c.785-1271_785-1270del
NM_001408403.1:c.788-1271_788-1270del
NM_001408404.1:c.788-1271_788-1270del
NM_001408406.1:c.791-1280_791-1279del
NM_001408407.1:c.785-1271_785-1270del
NM_001408408.1:c.779-1271_779-1270del
NM_001408409.1:c.710-1271_710-1270del
NM_001408410.1:c.647-1271_647-1270del
NM_001408411.1:c.710-1271_710-1270del
NM_001408412.1:c.710-1271_710-1270del
NM_001408413.1:c.707-1271_707-1270del
NM_001408414.1:c.710-1271_710-1270del
NM_001408415.1:c.710-1271_710-1270del
NM_001408416.1:c.707-1271_707-1270del
NM_001408418.1:c.671-1271_671-1270del
NM_001408419.1:c.671-1271_671-1270del
NM_001408420.1:c.671-1271_671-1270del
NM_001408421.1:c.668-1271_668-1270del
NM_001408422.1:c.671-1271_671-1270del
NM_001408423.1:c.671-1271_671-1270del
NM_001408424.1:c.668-1271_668-1270del
NM_001408425.1:c.665-1271_665-1270del
NM_001408426.1:c.665-1271_665-1270del
NM_001408427.1:c.665-1271_665-1270del
NM_001408428.1:c.665-1271_665-1270del
NM_001408429.1:c.665-1271_665-1270del
NM_001408430.1:c.665-1271_665-1270del
NM_001408431.1:c.668-1271_668-1270del
NM_001408432.1:c.662-1271_662-1270del
NM_001408433.1:c.662-1271_662-1270del
NM_001408434.1:c.662-1271_662-1270del
NM_001408435.1:c.662-1271_662-1270del
NM_001408436.1:c.665-1271_665-1270del
NM_001408437.1:c.665-1271_665-1270del
NM_001408438.1:c.665-1271_665-1270del
NM_001408439.1:c.665-1271_665-1270del
NM_001408440.1:c.665-1271_665-1270del
NM_001408441.1:c.665-1271_665-1270del
NM_001408442.1:c.665-1271_665-1270del
NM_001408443.1:c.665-1271_665-1270del
NM_001408444.1:c.665-1271_665-1270del
NM_001408445.1:c.662-1271_662-1270del
NM_001408446.1:c.662-1271_662-1270del
NM_001408447.1:c.662-1271_662-1270del
NM_001408448.1:c.662-1271_662-1270del
NM_001408450.1:c.662-1271_662-1270del
NM_001408451.1:c.653-1271_653-1270del
NM_001408452.1:c.647-1271_647-1270del
NM_001408453.1:c.647-1271_647-1270del
NM_001408454.1:c.647-1271_647-1270del
NM_001408455.1:c.647-1271_647-1270del
NM_001408456.1:c.647-1271_647-1270del
NM_001408457.1:c.647-1271_647-1270del
NM_001408458.1:c.647-1271_647-1270del
NM_001408459.1:c.647-1271_647-1270del
NM_001408460.1:c.647-1271_647-1270del
NM_001408461.1:c.647-1271_647-1270del
NM_001408462.1:c.644-1271_644-1270del
NM_001408463.1:c.644-1271_644-1270del
NM_001408464.1:c.644-1271_644-1270del
NM_001408465.1:c.644-1271_644-1270del
NM_001408466.1:c.647-1271_647-1270del
NM_001408467.1:c.647-1271_647-1270del
NM_001408468.1:c.644-1271_644-1270del
NM_001408469.1:c.647-1271_647-1270del
NM_001408470.1:c.644-1271_644-1270del
NM_001408472.1:c.788-1271_788-1270del
NM_001408473.1:c.785-1271_785-1270del
NM_001408474.1:c.587-1271_587-1270del
NM_001408475.1:c.584-1271_584-1270del
NM_001408476.1:c.587-1271_587-1270del
NM_001408478.1:c.578-1271_578-1270del
NM_001408479.1:c.578-1271_578-1270del
NM_001408480.1:c.578-1271_578-1270del
NM_001408481.1:c.578-1271_578-1270del
NM_001408482.1:c.578-1271_578-1270del
NM_001408483.1:c.578-1271_578-1270del
NM_001408484.1:c.578-1271_578-1270del
NM_001408485.1:c.578-1271_578-1270del
NM_001408489.1:c.578-1271_578-1270del
NM_001408490.1:c.575-1271_575-1270del
NM_001408491.1:c.575-1271_575-1270del
NM_001408492.1:c.578-1271_578-1270del
NM_001408493.1:c.575-1271_575-1270del
NM_001408494.1:c.548-1271_548-1270del
NM_001408495.1:c.545-1271_545-1270del
NM_001408496.1:c.524-1271_524-1270del
NM_001408497.1:c.524-1271_524-1270del
NM_001408498.1:c.524-1271_524-1270del
NM_001408499.1:c.524-1271_524-1270del
NM_001408500.1:c.524-1271_524-1270del
NM_001408501.1:c.524-1271_524-1270del
NM_001408502.1:c.455-1271_455-1270del
NM_001408503.1:c.521-1271_521-1270del
NM_001408504.1:c.521-1271_521-1270del
NM_001408505.1:c.521-1271_521-1270del
NM_001408506.1:c.461-1271_461-1270del
NM_001408507.1:c.461-1271_461-1270del
NM_001408508.1:c.452-1271_452-1270del
NM_001408509.1:c.452-1271_452-1270del
NM_001408510.1:c.407-1271_407-1270del
NM_001408511.1:c.404-1271_404-1270del
NM_001408512.1:c.284-1271_284-1270del
NM_001408513.1:c.578-1271_578-1270del
NM_001408514.1:c.578-1271_578-1270del
NM_007294.4:c.3228_3229delMANE SELECT
NM_007297.4:c.3087_3088del
NM_007298.4:c.788-1271_788-1270del
NM_007299.4:c.788-1271_788-1270del
NM_007300.4:c.3228_3229del
NP_001394500.1:p.Gly1006fs
NP_001394510.1:p.Gly1077fs
NP_001394511.1:p.Gly1077fs
NP_001394512.1:p.Gly1077fs
NP_001394514.1:p.Gly1077fs
NP_001394516.1:p.Gly1076fs
NP_001394519.1:p.Gly1076fs
NP_001394520.1:p.Gly1076fs
NP_001394522.1:p.Gly1077fs
NP_001394523.1:p.Gly1077fs
NP_001394525.1:p.Gly1077fs
NP_001394526.1:p.Gly1077fs
NP_001394527.1:p.Gly1077fs
NP_001394531.1:p.Gly1077fs
NP_001394532.1:p.Gly1077fs
NP_001394534.1:p.Gly1077fs
NP_001394539.1:p.Gly1076fs
NP_001394540.1:p.Gly1076fs
NP_001394541.1:p.Gly1076fs
NP_001394542.1:p.Gly1076fs
NP_001394543.1:p.Gly1076fs
NP_001394544.1:p.Gly1076fs
NP_001394545.1:p.Gly1077fs
NP_001394546.1:p.Gly1077fs
NP_001394547.1:p.Gly1077fs
NP_001394548.1:p.Gly1077fs
NP_001394549.1:p.Gly1077fs
NP_001394550.1:p.Gly1077fs
NP_001394551.1:p.Gly1077fs
NP_001394552.1:p.Gly1077fs
NP_001394553.1:p.Gly1077fs
NP_001394554.1:p.Gly1077fs
NP_001394555.1:p.Gly1077fs
NP_001394556.1:p.Gly1076fs
NP_001394557.1:p.Gly1076fs
NP_001394558.1:p.Gly1076fs
NP_001394559.1:p.Gly1076fs
NP_001394560.1:p.Gly1076fs
NP_001394561.1:p.Gly1076fs
NP_001394562.1:p.Gly1076fs
NP_001394563.1:p.Gly1076fs
NP_001394564.1:p.Gly1076fs
NP_001394565.1:p.Gly1076fs
NP_001394566.1:p.Gly1076fs
NP_001394567.1:p.Gly1076fs
NP_001394568.1:p.Gly1077fs
NP_001394569.1:p.Gly1077fs
NP_001394570.1:p.Gly1077fs
NP_001394571.1:p.Gly1077fs
NP_001394573.1:p.Gly1076fs
NP_001394574.1:p.Gly1076fs
NP_001394575.1:p.Gly1074fs
NP_001394576.1:p.Gly1074fs
NP_001394577.1:p.Gly1036fs
NP_001394578.1:p.Gly1035fs
NP_001394581.1:p.Gly1077fs
NP_001394582.1:p.Gly1051fs
NP_001394583.1:p.Gly1051fs
NP_001394584.1:p.Gly1051fs
NP_001394585.1:p.Gly1051fs
NP_001394586.1:p.Gly1051fs
NP_001394587.1:p.Gly1051fs
NP_001394588.1:p.Gly1050fs
NP_001394589.1:p.Gly1050fs
NP_001394590.1:p.Gly1050fs
NP_001394591.1:p.Gly1050fs
NP_001394592.1:p.Gly1051fs
NP_001394593.1:p.Gly1036fs
NP_001394594.1:p.Gly1036fs
NP_001394595.1:p.Gly1036fs
NP_001394596.1:p.Gly1036fs
NP_001394597.1:p.Gly1036fs
NP_001394598.1:p.Gly1036fs
NP_001394599.1:p.Gly1035fs
NP_001394600.1:p.Gly1035fs
NP_001394601.1:p.Gly1035fs
NP_001394602.1:p.Gly1035fs
NP_001394603.1:p.Gly1036fs
NP_001394604.1:p.Gly1036fs
NP_001394605.1:p.Gly1036fs
NP_001394606.1:p.Gly1036fs
NP_001394607.1:p.Gly1036fs
NP_001394608.1:p.Gly1036fs
NP_001394609.1:p.Gly1036fs
NP_001394610.1:p.Gly1036fs
NP_001394611.1:p.Gly1036fs
NP_001394612.1:p.Gly1036fs
NP_001394613.1:p.Gly1077fs
NP_001394614.1:p.Gly1035fs
NP_001394615.1:p.Gly1035fs
NP_001394616.1:p.Gly1035fs
NP_001394617.1:p.Gly1035fs
NP_001394618.1:p.Gly1035fs
NP_001394619.1:p.Gly1035fs
NP_001394620.1:p.Gly1035fs
NP_001394621.1:p.Gly1030fs
NP_001394623.1:p.Gly1030fs
NP_001394624.1:p.Gly1030fs
NP_001394625.1:p.Gly1030fs
NP_001394626.1:p.Gly1030fs
NP_001394627.1:p.Gly1030fs
NP_001394653.1:p.Gly1030fs
NP_001394654.1:p.Gly1030fs
NP_001394655.1:p.Gly1030fs
NP_001394656.1:p.Gly1030fs
NP_001394657.1:p.Gly1030fs
NP_001394658.1:p.Gly1030fs
NP_001394659.1:p.Gly1030fs
NP_001394660.1:p.Gly1030fs
NP_001394661.1:p.Gly1030fs
NP_001394662.1:p.Gly1030fs
NP_001394663.1:p.Gly1030fs
NP_001394664.1:p.Gly1030fs
NP_001394665.1:p.Gly1030fs
NP_001394666.1:p.Gly1030fs
NP_001394667.1:p.Gly1030fs
NP_001394668.1:p.Gly1030fs
NP_001394669.1:p.Gly1029fs
NP_001394670.1:p.Gly1029fs
NP_001394671.1:p.Gly1029fs
NP_001394672.1:p.Gly1029fs
NP_001394673.1:p.Gly1029fs
NP_001394674.1:p.Gly1029fs
NP_001394675.1:p.Gly1029fs
NP_001394676.1:p.Gly1029fs
NP_001394677.1:p.Gly1029fs
NP_001394678.1:p.Gly1029fs
NP_001394679.1:p.Gly1030fs
NP_001394680.1:p.Gly1030fs
NP_001394681.1:p.Gly1030fs
NP_001394767.1:p.Gly1029fs
NP_001394768.1:p.Gly1029fs
NP_001394770.1:p.Gly1029fs
NP_001394771.1:p.Gly1029fs
NP_001394772.1:p.Gly1029fs
NP_001394773.1:p.Gly1029fs
NP_001394774.1:p.Gly1029fs
NP_001394775.1:p.Gly1029fs
NP_001394776.1:p.Gly1029fs
NP_001394777.1:p.Gly1029fs
NP_001394778.1:p.Gly1029fs
NP_001394779.1:p.Gly1030fs
NP_001394780.1:p.Gly1030fs
NP_001394781.1:p.Gly1030fs
NP_001394782.1:p.Gly1006fs
NP_001394783.1:p.Gly1077fs
NP_001394787.1:p.Gly1077fs
NP_001394788.1:p.Gly1077fs
NP_001394789.1:p.Gly1076fs
NP_001394790.1:p.Gly1076fs
NP_001394791.1:p.Gly1010fs
NP_001394792.1:p.Gly1036fs
NP_001394803.1:p.Gly1009fs
NP_001394804.1:p.Gly1009fs
NP_001394808.1:p.Gly1007fs
NP_001394810.1:p.Gly1007fs
NP_001394811.1:p.Gly1007fs
NP_001394813.1:p.Gly1007fs
NP_001394814.1:p.Gly1007fs
NP_001394815.1:p.Gly1007fs
NP_001394816.1:p.Gly1007fs
NP_001394818.1:p.Gly1007fs
NP_001394823.1:p.Gly1006fs
NP_001394824.1:p.Gly1006fs
NP_001394825.1:p.Gly1006fs
NP_001394826.1:p.Gly1006fs
NP_001394827.1:p.Gly1006fs
NP_001394828.1:p.Gly1006fs
NP_001394829.1:p.Gly1007fs
NP_001394831.1:p.Gly1007fs
NP_001394833.1:p.Gly1007fs
NP_001394835.1:p.Gly1007fs
NP_001394836.1:p.Gly1007fs
NP_001394837.1:p.Gly1007fs
NP_001394838.1:p.Gly1007fs
NP_001394839.1:p.Gly1007fs
NP_001394844.1:p.Gly1006fs
NP_001394845.1:p.Gly1006fs
NP_001394846.1:p.Gly1006fs
NP_001394847.1:p.Gly1006fs
NP_001394848.1:p.Gly1036fs
NP_001394849.1:p.Gly989fs
NP_001394850.1:p.Gly989fs
NP_001394851.1:p.Gly989fs
NP_001394852.1:p.Gly989fs
NP_001394853.1:p.Gly989fs
NP_001394854.1:p.Gly989fs
NP_001394855.1:p.Gly989fs
NP_001394856.1:p.Gly989fs
NP_001394857.1:p.Gly989fs
NP_001394858.1:p.Gly989fs
NP_001394859.1:p.Gly988fs
NP_001394860.1:p.Gly988fs
NP_001394861.1:p.Gly988fs
NP_001394862.1:p.Gly989fs
NP_001394863.1:p.Gly988fs
NP_001394864.1:p.Gly989fs
NP_001394865.1:p.Gly988fs
NP_001394866.1:p.Gly1036fs
NP_001394867.1:p.Gly1036fs
NP_001394868.1:p.Gly1036fs
NP_001394869.1:p.Gly1035fs
NP_001394870.1:p.Gly1035fs
NP_001394871.1:p.Gly1030fs
NP_001394872.1:p.Gly1029fs
NP_001394873.1:p.Gly1030fs
NP_001394874.1:p.Gly1030fs
NP_001394875.1:p.Gly966fs
NP_001394876.1:p.Gly966fs
NP_001394877.1:p.Gly966fs
NP_001394878.1:p.Gly966fs
NP_001394879.1:p.Gly966fs
NP_001394880.1:p.Gly966fs
NP_001394881.1:p.Gly966fs
NP_001394882.1:p.Gly966fs
NP_001394883.1:p.Gly965fs
NP_001394884.1:p.Gly965fs
NP_001394885.1:p.Gly965fs
NP_001394886.1:p.Gly966fs
NP_001394887.1:p.Gly965fs
NP_001394888.1:p.Gly950fs
NP_001394889.1:p.Gly950fs
NP_001394891.1:p.Gly949fs
NP_001394892.1:p.Gly950fs
NP_001394893.1:p.Gly1029fs
NP_001394894.1:p.Gly909fs
NP_001394895.1:p.Gly781fs
NP_001394896.1:p.Gly781fs
NP_009225.1:p.Gly1077Alafs
NP_009225.1:p.Gly1077fs
NP_009228.2:p.Gly1030fs
NP_009231.2:p.Gly1077fs
LRG_292t1:c.3226_3227AG[1]
LRG_292:g.125679AG[1]
LRG_292p1:p.Gly1077Alafs
NC_000017.10:g.41244319CT[1]
NC_000017.10:g.41244319_41244320del
NC_000017.10:g.41244319_41244320delCT
NC_000017.10:g.41244321_41244322del
NM_007294.3:c.3226_3227AG[1]
NM_007294.3:c.3228_3229delAG
NM_007294.4:c.3228_3229del
NM_007294.4:c.3228_3229delAG
NR_027676.1:n.3362_3363AG[1]
U14680.1:n.3347_3348delAG
p.G1076AfsX8
p.G1077Afs*8
p.Gly1077Alafs*8

Nucleotide change:

3347delAG

Protein change:

G1006fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 3347&base_change=del AG; dbSNP: rs80357635

NCBI 1000 Genomes Browser:

rs80357635

Molecular consequence:

NM_001407571.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.3219_3220del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.3219_3220del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.3150_3151del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.3150_3151del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.3150_3151del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.3150_3151del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.3150_3151del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.3150_3151del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.3147_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.3147_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.3147_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.3147_3148del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.3150_3151del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.3225_3226del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.3027_3028del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.3024_3025del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.3024_3025del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.3018_3019del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.3015_3016del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.2964_2965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.2964_2965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.2964_2965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.2964_2965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.2964_2965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.2964_2965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.2964_2965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.2964_2965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.2964_2965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.2964_2965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.2961_2962del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.2961_2962del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.2961_2962del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.2964_2965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.2961_2962del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.2964_2965del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.2961_2962del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.3105_3106del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.3102_3103del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.2895_2896del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.2895_2896del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.2895_2896del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.2895_2896del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.2895_2896del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.2895_2896del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.2895_2896del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.2895_2896del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.2892_2893del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.2892_2893del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.2892_2893del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.2895_2896del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.2892_2893del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.2847_2848del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.2847_2848del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.2844_2845del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.2847_2848del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.3084_3085del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.2724_2725del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.2340_2341del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.2340_2341del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.3087_3088del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.3228_3229del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.788-164_788-163del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-164_788-163del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1280_791-1279del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1271_779-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1271_710-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1271_647-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1271_710-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1271_710-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1271_707-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1271_710-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1271_710-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1271_707-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1271_671-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1271_671-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1271_671-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1271_668-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1271_671-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1271_671-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1271_668-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1271_668-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1271_662-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1271_662-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1271_662-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1271_662-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1271_665-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1271_662-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1271_662-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1271_662-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1271_662-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1271_662-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1271_653-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1271_647-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1271_647-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1271_647-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1271_647-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1271_647-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1271_647-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1271_647-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1271_647-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1271_647-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1271_647-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1271_644-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1271_644-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1271_644-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1271_644-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1271_647-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1271_647-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1271_644-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1271_647-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1271_644-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1271_785-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1271_587-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1271_584-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1271_587-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1271_578-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1271_578-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1271_578-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1271_578-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1271_578-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1271_578-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1271_578-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1271_578-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1271_578-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1271_575-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1271_575-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1271_578-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1271_575-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1271_548-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1271_545-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1271_524-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1271_524-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1271_524-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1271_524-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1271_524-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1271_524-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1271_455-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1271_521-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1271_521-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1271_521-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1271_461-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1271_461-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1271_452-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1271_452-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1271_407-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1271_404-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1271_284-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1271_578-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1271_578-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1271_788-1270del - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1271_788-1270del - 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
SCV000213349	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Oct 10, 2021)	germline	clinical testing	PubMed (23) [See all records that cite these PMIDs] 11720839, 14531499, 15477862, 18819001, 18821011, 19837273, 20104584, 22798144, 24549055, 26350514, 26824983, 27425403, 27836010, 28111427, 28637432, 28724667, 29161300, 29371908, 29446198, 29470806, 32438681, 32854451, 33403015 Citation Link,
SCV000683092	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 6, 2023)	germline	clinical testing	PubMed (20) [See all records that cite these PMIDs] 11720839, 14522380, 14531499, 15477862, 17574839, 17591843, 18819001, 18821011, 19837273, 20104584, 22798144, 24549055, 26350514, 27425403, 28637432, 28724667, 29371908, 29446198, 33471991, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000213349

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Oct 10, 2021)

germline

clinical testing

PubMed (23)
[See all records that cite these PMIDs]

Citation Link,

SCV000683092

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 6, 2023)

germline

clinical testing

PubMed (20)
[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

Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.

Lin PH, Kuo WH, Huang AC, Lu YS, Lin CH, Kuo SH, Wang MY, Liu CY, Cheng FT, Yeh MH, Li HY, Yang YH, Hsu YH, Fan SC, Li LY, Yu SL, Chang KJ, Chen PL, Ni YH, Huang CS.

Oncotarget. 2016 Feb 16;7(7):8310-20. doi: 10.18632/oncotarget.7027.

PubMed [citation]

PMID:: 26824983
PMCID:: PMC4884994

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.

Rebbeck TR, Friebel TM, Mitra N, Wan F, Chen S, Andrulis IL, Apostolou P, Arnold N, Arun BK, Barrowdale D, Benitez J, Berger R, Berthet P, Borg A, Buys SS, Caldes T, Carter J, Chiquette J, Claes KB, Couch FJ, Cybulski C, Daly MB, et al.

Breast Cancer Res. 2016 Nov 11;18(1):112.

PubMed [citation]

PMID:: 27836010
PMCID:: PMC5106833

See all PubMed Citations (28)

Details of each submission

From Ambry Genetics, SCV000213349.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (23)

Description

The c.3228_3229delAG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 3228 to 3229, causing a translational frameshift with a predicted alternate stop codon (p.G1077Afs*8). This mutation has been reported in multiple individuals/families with hereditary breast and ovarian cancer (HBOC) syndrome (Aretini P et al. Breast Cancer Res Treat, 2003 Sep;81:71-9; Bjørge T et al. Br. J. Cancer, 2004 Nov;91:1829-34; Ottini L et al. Breast Cancer Res Treat, 2009 Aug;116:577-86; Borg A et al. Hum Mutat, 2010 Mar;31:E1200-40; Kim H et al. Breast Cancer Res Treat, 2012 Aug;134:1315-26; Castéra L et al. Eur J Hum Genet, 2014 Nov;22:1305-13; Lin PH et al. Oncotarget, 2016 Feb;7:8310-20; Alemar B et al. Cancer Genet, 2016 09;209:417-422; Høberg-Vetti H et al. Eur J Hum Genet, 2016 06;24:881-8; Grindedal EM et al. BMC Cancer, 2017 Jun;17:438; Park JS et al. Cancer Res Treat, 2017 Oct;49:1012-1021; Sun J et al. Clin Cancer Res, 2017 Oct;23:6113-6119; Dominguez-Valentin M et al. Hered Cancer Clin Pract, 2018 Jan;16:4; Rebbeck TR et al. Hum Mutat, 2018 05;39:593-620; Singh J et al. Breast Cancer Res Treat, 2018 Jul;170:189-196; Fanale D et al. Cancers (Basel), 2020 Aug;12; Santonocito C et al. Cancers (Basel), 2020 May;12; Incorvaia L et al. Ther Adv Med Oncol, 2020 Dec;12). Due to its prevalence in Norway and Tuscany, this alteration has also been recognized as a founder mutation in these two populations (Møller P et al. Eur. J. Cancer. 2001 Dec;37:2428-34; Papi L et al. Breast Cancer Res. Treat. 2009 Oct;117:497-504). Of note, this alteration is also designated as c.3226_3227delAG, 3347delAG and 3345delAG in the 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, SCV000683092.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (20)

Description

This variant deletes 2 nucleotides in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in over 30 individuals and families affected with breast and/or ovarian cancer (PMID: 11720839, 14522380, 14531499, 15477862, 17574839, 18819001, 18821011, 19837273, 20104584, 22798144, 24549055, 26350514, 27425403, 28637432, 28724667, 29371908, 33471991; Leiden Open Variation Database DB-ID BRCA1_000674), and it is considered a founder or recurrent mutation in the Norwegian and Italian populations (PMID: 17591843, 18821011). This variant has been identified in 61 families among the CIMBA participants (PMID: 29446198) (https://cimba.ccge.medschl.cam.ac.uk/). This variant has been identified in 1/250376 chromosomes 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: Oct 26, 2024

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