NM_007294.4(BRCA1):c.2999del (p.Glu1000fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (5 submissions)
Last evaluated:: Apr 22, 2016
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000083193.16

Allele description [Variation Report for NM_007294.4(BRCA1):c.2999del (p.Glu1000fs)]

NM_007294.4(BRCA1):c.2999del (p.Glu1000fs)

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.2999del (p.Glu1000fs)

HGVS:

NC_000017.11:g.43092532del
NG_005905.2:g.125452del
NM_001407571.1:c.2786del
NM_001407581.1:c.2999del
NM_001407582.1:c.2999del
NM_001407583.1:c.2999del
NM_001407585.1:c.2999del
NM_001407587.1:c.2996del
NM_001407590.1:c.2996del
NM_001407591.1:c.2996del
NM_001407593.1:c.2999del
NM_001407594.1:c.2999del
NM_001407596.1:c.2999del
NM_001407597.1:c.2999del
NM_001407598.1:c.2999del
NM_001407602.1:c.2999del
NM_001407603.1:c.2999del
NM_001407605.1:c.2999del
NM_001407610.1:c.2996del
NM_001407611.1:c.2996del
NM_001407612.1:c.2996del
NM_001407613.1:c.2996del
NM_001407614.1:c.2996del
NM_001407615.1:c.2996del
NM_001407616.1:c.2999del
NM_001407617.1:c.2999del
NM_001407618.1:c.2999del
NM_001407619.1:c.2999del
NM_001407620.1:c.2999del
NM_001407621.1:c.2999del
NM_001407622.1:c.2999del
NM_001407623.1:c.2999del
NM_001407624.1:c.2999del
NM_001407625.1:c.2999del
NM_001407626.1:c.2999del
NM_001407627.1:c.2996del
NM_001407628.1:c.2996del
NM_001407629.1:c.2996del
NM_001407630.1:c.2996del
NM_001407631.1:c.2996del
NM_001407632.1:c.2996del
NM_001407633.1:c.2996del
NM_001407634.1:c.2996del
NM_001407635.1:c.2996del
NM_001407636.1:c.2996del
NM_001407637.1:c.2996del
NM_001407638.1:c.2996del
NM_001407639.1:c.2999del
NM_001407640.1:c.2999del
NM_001407641.1:c.2999del
NM_001407642.1:c.2999del
NM_001407644.1:c.2996del
NM_001407645.1:c.2996del
NM_001407646.1:c.2990del
NM_001407647.1:c.2990del
NM_001407648.1:c.2876del
NM_001407649.1:c.2873del
NM_001407652.1:c.2999del
NM_001407653.1:c.2921del
NM_001407654.1:c.2921del
NM_001407655.1:c.2921del
NM_001407656.1:c.2921del
NM_001407657.1:c.2921del
NM_001407658.1:c.2921del
NM_001407659.1:c.2918del
NM_001407660.1:c.2918del
NM_001407661.1:c.2918del
NM_001407662.1:c.2918del
NM_001407663.1:c.2921del
NM_001407664.1:c.2876del
NM_001407665.1:c.2876del
NM_001407666.1:c.2876del
NM_001407667.1:c.2876del
NM_001407668.1:c.2876del
NM_001407669.1:c.2876del
NM_001407670.1:c.2873del
NM_001407671.1:c.2873del
NM_001407672.1:c.2873del
NM_001407673.1:c.2873del
NM_001407674.1:c.2876del
NM_001407675.1:c.2876del
NM_001407676.1:c.2876del
NM_001407677.1:c.2876del
NM_001407678.1:c.2876del
NM_001407679.1:c.2876del
NM_001407680.1:c.2876del
NM_001407681.1:c.2876del
NM_001407682.1:c.2876del
NM_001407683.1:c.2876del
NM_001407684.1:c.2999del
NM_001407685.1:c.2873del
NM_001407686.1:c.2873del
NM_001407687.1:c.2873del
NM_001407688.1:c.2873del
NM_001407689.1:c.2873del
NM_001407690.1:c.2873del
NM_001407691.1:c.2873del
NM_001407692.1:c.2858del
NM_001407694.1:c.2858del
NM_001407695.1:c.2858del
NM_001407696.1:c.2858del
NM_001407697.1:c.2858del
NM_001407698.1:c.2858del
NM_001407724.1:c.2858del
NM_001407725.1:c.2858del
NM_001407726.1:c.2858del
NM_001407727.1:c.2858del
NM_001407728.1:c.2858del
NM_001407729.1:c.2858del
NM_001407730.1:c.2858del
NM_001407731.1:c.2858del
NM_001407732.1:c.2858del
NM_001407733.1:c.2858del
NM_001407734.1:c.2858del
NM_001407735.1:c.2858del
NM_001407736.1:c.2858del
NM_001407737.1:c.2858del
NM_001407738.1:c.2858del
NM_001407739.1:c.2858del
NM_001407740.1:c.2855del
NM_001407741.1:c.2855del
NM_001407742.1:c.2855del
NM_001407743.1:c.2855del
NM_001407744.1:c.2855del
NM_001407745.1:c.2855del
NM_001407746.1:c.2855del
NM_001407747.1:c.2855del
NM_001407748.1:c.2855del
NM_001407749.1:c.2855del
NM_001407750.1:c.2858del
NM_001407751.1:c.2858del
NM_001407752.1:c.2858del
NM_001407838.1:c.2855del
NM_001407839.1:c.2855del
NM_001407841.1:c.2855del
NM_001407842.1:c.2855del
NM_001407843.1:c.2855del
NM_001407844.1:c.2855del
NM_001407845.1:c.2855del
NM_001407846.1:c.2855del
NM_001407847.1:c.2855del
NM_001407848.1:c.2855del
NM_001407849.1:c.2855del
NM_001407850.1:c.2858del
NM_001407851.1:c.2858del
NM_001407852.1:c.2858del
NM_001407853.1:c.2786del
NM_001407854.1:c.2999del
NM_001407858.1:c.2999del
NM_001407859.1:c.2999del
NM_001407860.1:c.2996del
NM_001407861.1:c.2996del
NM_001407862.1:c.2798del
NM_001407863.1:c.2876del
NM_001407874.1:c.2795del
NM_001407875.1:c.2795del
NM_001407879.1:c.2789del
NM_001407881.1:c.2789del
NM_001407882.1:c.2789del
NM_001407884.1:c.2789del
NM_001407885.1:c.2789del
NM_001407886.1:c.2789del
NM_001407887.1:c.2789del
NM_001407889.1:c.2789del
NM_001407894.1:c.2786del
NM_001407895.1:c.2786del
NM_001407896.1:c.2786del
NM_001407897.1:c.2786del
NM_001407898.1:c.2786del
NM_001407899.1:c.2786del
NM_001407900.1:c.2789del
NM_001407902.1:c.2789del
NM_001407904.1:c.2789del
NM_001407906.1:c.2789del
NM_001407907.1:c.2789del
NM_001407908.1:c.2789del
NM_001407909.1:c.2789del
NM_001407910.1:c.2789del
NM_001407915.1:c.2786del
NM_001407916.1:c.2786del
NM_001407917.1:c.2786del
NM_001407918.1:c.2786del
NM_001407919.1:c.2876del
NM_001407920.1:c.2735del
NM_001407921.1:c.2735del
NM_001407922.1:c.2735del
NM_001407923.1:c.2735del
NM_001407924.1:c.2735del
NM_001407925.1:c.2735del
NM_001407926.1:c.2735del
NM_001407927.1:c.2735del
NM_001407928.1:c.2735del
NM_001407929.1:c.2735del
NM_001407930.1:c.2732del
NM_001407931.1:c.2732del
NM_001407932.1:c.2732del
NM_001407933.1:c.2735del
NM_001407934.1:c.2732del
NM_001407935.1:c.2735del
NM_001407936.1:c.2732del
NM_001407937.1:c.2876del
NM_001407938.1:c.2876del
NM_001407939.1:c.2876del
NM_001407940.1:c.2873del
NM_001407941.1:c.2873del
NM_001407942.1:c.2858del
NM_001407943.1:c.2855del
NM_001407944.1:c.2858del
NM_001407945.1:c.2858del
NM_001407946.1:c.2666del
NM_001407947.1:c.2666del
NM_001407948.1:c.2666del
NM_001407949.1:c.2666del
NM_001407950.1:c.2666del
NM_001407951.1:c.2666del
NM_001407952.1:c.2666del
NM_001407953.1:c.2666del
NM_001407954.1:c.2663del
NM_001407955.1:c.2663del
NM_001407956.1:c.2663del
NM_001407957.1:c.2666del
NM_001407958.1:c.2663del
NM_001407959.1:c.2618del
NM_001407960.1:c.2618del
NM_001407962.1:c.2615del
NM_001407963.1:c.2618del
NM_001407964.1:c.2855del
NM_001407965.1:c.2495del
NM_001407966.1:c.2111del
NM_001407967.1:c.2111del
NM_001407968.1:c.788-393del
NM_001407969.1:c.788-393del
NM_001407970.1:c.788-1500del
NM_001407971.1:c.788-1500del
NM_001407972.1:c.785-1500del
NM_001407973.1:c.788-1500del
NM_001407974.1:c.788-1500del
NM_001407975.1:c.788-1500del
NM_001407976.1:c.788-1500del
NM_001407977.1:c.788-1500del
NM_001407978.1:c.788-1500del
NM_001407979.1:c.788-1500del
NM_001407980.1:c.788-1500del
NM_001407981.1:c.788-1500del
NM_001407982.1:c.788-1500del
NM_001407983.1:c.788-1500del
NM_001407984.1:c.785-1500del
NM_001407985.1:c.785-1500del
NM_001407986.1:c.785-1500del
NM_001407990.1:c.788-1500del
NM_001407991.1:c.785-1500del
NM_001407992.1:c.785-1500del
NM_001407993.1:c.788-1500del
NM_001408392.1:c.785-1500del
NM_001408396.1:c.785-1500del
NM_001408397.1:c.785-1500del
NM_001408398.1:c.785-1500del
NM_001408399.1:c.785-1500del
NM_001408400.1:c.785-1500del
NM_001408401.1:c.785-1500del
NM_001408402.1:c.785-1500del
NM_001408403.1:c.788-1500del
NM_001408404.1:c.788-1500del
NM_001408406.1:c.791-1509del
NM_001408407.1:c.785-1500del
NM_001408408.1:c.779-1500del
NM_001408409.1:c.710-1500del
NM_001408410.1:c.647-1500del
NM_001408411.1:c.710-1500del
NM_001408412.1:c.710-1500del
NM_001408413.1:c.707-1500del
NM_001408414.1:c.710-1500del
NM_001408415.1:c.710-1500del
NM_001408416.1:c.707-1500del
NM_001408418.1:c.671-1500del
NM_001408419.1:c.671-1500del
NM_001408420.1:c.671-1500del
NM_001408421.1:c.668-1500del
NM_001408422.1:c.671-1500del
NM_001408423.1:c.671-1500del
NM_001408424.1:c.668-1500del
NM_001408425.1:c.665-1500del
NM_001408426.1:c.665-1500del
NM_001408427.1:c.665-1500del
NM_001408428.1:c.665-1500del
NM_001408429.1:c.665-1500del
NM_001408430.1:c.665-1500del
NM_001408431.1:c.668-1500del
NM_001408432.1:c.662-1500del
NM_001408433.1:c.662-1500del
NM_001408434.1:c.662-1500del
NM_001408435.1:c.662-1500del
NM_001408436.1:c.665-1500del
NM_001408437.1:c.665-1500del
NM_001408438.1:c.665-1500del
NM_001408439.1:c.665-1500del
NM_001408440.1:c.665-1500del
NM_001408441.1:c.665-1500del
NM_001408442.1:c.665-1500del
NM_001408443.1:c.665-1500del
NM_001408444.1:c.665-1500del
NM_001408445.1:c.662-1500del
NM_001408446.1:c.662-1500del
NM_001408447.1:c.662-1500del
NM_001408448.1:c.662-1500del
NM_001408450.1:c.662-1500del
NM_001408451.1:c.653-1500del
NM_001408452.1:c.647-1500del
NM_001408453.1:c.647-1500del
NM_001408454.1:c.647-1500del
NM_001408455.1:c.647-1500del
NM_001408456.1:c.647-1500del
NM_001408457.1:c.647-1500del
NM_001408458.1:c.647-1500del
NM_001408459.1:c.647-1500del
NM_001408460.1:c.647-1500del
NM_001408461.1:c.647-1500del
NM_001408462.1:c.644-1500del
NM_001408463.1:c.644-1500del
NM_001408464.1:c.644-1500del
NM_001408465.1:c.644-1500del
NM_001408466.1:c.647-1500del
NM_001408467.1:c.647-1500del
NM_001408468.1:c.644-1500del
NM_001408469.1:c.647-1500del
NM_001408470.1:c.644-1500del
NM_001408472.1:c.788-1500del
NM_001408473.1:c.785-1500del
NM_001408474.1:c.587-1500del
NM_001408475.1:c.584-1500del
NM_001408476.1:c.587-1500del
NM_001408478.1:c.578-1500del
NM_001408479.1:c.578-1500del
NM_001408480.1:c.578-1500del
NM_001408481.1:c.578-1500del
NM_001408482.1:c.578-1500del
NM_001408483.1:c.578-1500del
NM_001408484.1:c.578-1500del
NM_001408485.1:c.578-1500del
NM_001408489.1:c.578-1500del
NM_001408490.1:c.575-1500del
NM_001408491.1:c.575-1500del
NM_001408492.1:c.578-1500del
NM_001408493.1:c.575-1500del
NM_001408494.1:c.548-1500del
NM_001408495.1:c.545-1500del
NM_001408496.1:c.524-1500del
NM_001408497.1:c.524-1500del
NM_001408498.1:c.524-1500del
NM_001408499.1:c.524-1500del
NM_001408500.1:c.524-1500del
NM_001408501.1:c.524-1500del
NM_001408502.1:c.455-1500del
NM_001408503.1:c.521-1500del
NM_001408504.1:c.521-1500del
NM_001408505.1:c.521-1500del
NM_001408506.1:c.461-1500del
NM_001408507.1:c.461-1500del
NM_001408508.1:c.452-1500del
NM_001408509.1:c.452-1500del
NM_001408510.1:c.407-1500del
NM_001408511.1:c.404-1500del
NM_001408512.1:c.284-1500del
NM_001408513.1:c.578-1500del
NM_001408514.1:c.578-1500del
NM_007294.4:c.2999delMANE SELECT
NM_007297.4:c.2858del
NM_007298.4:c.788-1500del
NM_007299.4:c.788-1500del
NM_007300.4:c.2999del
NP_001394500.1:p.Glu929fs
NP_001394510.1:p.Glu1000fs
NP_001394511.1:p.Glu1000fs
NP_001394512.1:p.Glu1000fs
NP_001394514.1:p.Glu1000fs
NP_001394516.1:p.Glu999fs
NP_001394519.1:p.Glu999fs
NP_001394520.1:p.Glu999fs
NP_001394522.1:p.Glu1000fs
NP_001394523.1:p.Glu1000fs
NP_001394525.1:p.Glu1000fs
NP_001394526.1:p.Glu1000fs
NP_001394527.1:p.Glu1000fs
NP_001394531.1:p.Glu1000fs
NP_001394532.1:p.Glu1000fs
NP_001394534.1:p.Glu1000fs
NP_001394539.1:p.Glu999fs
NP_001394540.1:p.Glu999fs
NP_001394541.1:p.Glu999fs
NP_001394542.1:p.Glu999fs
NP_001394543.1:p.Glu999fs
NP_001394544.1:p.Glu999fs
NP_001394545.1:p.Glu1000fs
NP_001394546.1:p.Glu1000fs
NP_001394547.1:p.Glu1000fs
NP_001394548.1:p.Glu1000fs
NP_001394549.1:p.Glu1000fs
NP_001394550.1:p.Glu1000fs
NP_001394551.1:p.Glu1000fs
NP_001394552.1:p.Glu1000fs
NP_001394553.1:p.Glu1000fs
NP_001394554.1:p.Glu1000fs
NP_001394555.1:p.Glu1000fs
NP_001394556.1:p.Glu999fs
NP_001394557.1:p.Glu999fs
NP_001394558.1:p.Glu999fs
NP_001394559.1:p.Glu999fs
NP_001394560.1:p.Glu999fs
NP_001394561.1:p.Glu999fs
NP_001394562.1:p.Glu999fs
NP_001394563.1:p.Glu999fs
NP_001394564.1:p.Glu999fs
NP_001394565.1:p.Glu999fs
NP_001394566.1:p.Glu999fs
NP_001394567.1:p.Glu999fs
NP_001394568.1:p.Glu1000fs
NP_001394569.1:p.Glu1000fs
NP_001394570.1:p.Glu1000fs
NP_001394571.1:p.Glu1000fs
NP_001394573.1:p.Glu999fs
NP_001394574.1:p.Glu999fs
NP_001394575.1:p.Glu997fs
NP_001394576.1:p.Glu997fs
NP_001394577.1:p.Glu959fs
NP_001394578.1:p.Glu958fs
NP_001394581.1:p.Glu1000fs
NP_001394582.1:p.Glu974fs
NP_001394583.1:p.Glu974fs
NP_001394584.1:p.Glu974fs
NP_001394585.1:p.Glu974fs
NP_001394586.1:p.Glu974fs
NP_001394587.1:p.Glu974fs
NP_001394588.1:p.Glu973fs
NP_001394589.1:p.Glu973fs
NP_001394590.1:p.Glu973fs
NP_001394591.1:p.Glu973fs
NP_001394592.1:p.Glu974fs
NP_001394593.1:p.Glu959fs
NP_001394594.1:p.Glu959fs
NP_001394595.1:p.Glu959fs
NP_001394596.1:p.Glu959fs
NP_001394597.1:p.Glu959fs
NP_001394598.1:p.Glu959fs
NP_001394599.1:p.Glu958fs
NP_001394600.1:p.Glu958fs
NP_001394601.1:p.Glu958fs
NP_001394602.1:p.Glu958fs
NP_001394603.1:p.Glu959fs
NP_001394604.1:p.Glu959fs
NP_001394605.1:p.Glu959fs
NP_001394606.1:p.Glu959fs
NP_001394607.1:p.Glu959fs
NP_001394608.1:p.Glu959fs
NP_001394609.1:p.Glu959fs
NP_001394610.1:p.Glu959fs
NP_001394611.1:p.Glu959fs
NP_001394612.1:p.Glu959fs
NP_001394613.1:p.Glu1000fs
NP_001394614.1:p.Glu958fs
NP_001394615.1:p.Glu958fs
NP_001394616.1:p.Glu958fs
NP_001394617.1:p.Glu958fs
NP_001394618.1:p.Glu958fs
NP_001394619.1:p.Glu958fs
NP_001394620.1:p.Glu958fs
NP_001394621.1:p.Glu953fs
NP_001394623.1:p.Glu953fs
NP_001394624.1:p.Glu953fs
NP_001394625.1:p.Glu953fs
NP_001394626.1:p.Glu953fs
NP_001394627.1:p.Glu953fs
NP_001394653.1:p.Glu953fs
NP_001394654.1:p.Glu953fs
NP_001394655.1:p.Glu953fs
NP_001394656.1:p.Glu953fs
NP_001394657.1:p.Glu953fs
NP_001394658.1:p.Glu953fs
NP_001394659.1:p.Glu953fs
NP_001394660.1:p.Glu953fs
NP_001394661.1:p.Glu953fs
NP_001394662.1:p.Glu953fs
NP_001394663.1:p.Glu953fs
NP_001394664.1:p.Glu953fs
NP_001394665.1:p.Glu953fs
NP_001394666.1:p.Glu953fs
NP_001394667.1:p.Glu953fs
NP_001394668.1:p.Glu953fs
NP_001394669.1:p.Glu952fs
NP_001394670.1:p.Glu952fs
NP_001394671.1:p.Glu952fs
NP_001394672.1:p.Glu952fs
NP_001394673.1:p.Glu952fs
NP_001394674.1:p.Glu952fs
NP_001394675.1:p.Glu952fs
NP_001394676.1:p.Glu952fs
NP_001394677.1:p.Glu952fs
NP_001394678.1:p.Glu952fs
NP_001394679.1:p.Glu953fs
NP_001394680.1:p.Glu953fs
NP_001394681.1:p.Glu953fs
NP_001394767.1:p.Glu952fs
NP_001394768.1:p.Glu952fs
NP_001394770.1:p.Glu952fs
NP_001394771.1:p.Glu952fs
NP_001394772.1:p.Glu952fs
NP_001394773.1:p.Glu952fs
NP_001394774.1:p.Glu952fs
NP_001394775.1:p.Glu952fs
NP_001394776.1:p.Glu952fs
NP_001394777.1:p.Glu952fs
NP_001394778.1:p.Glu952fs
NP_001394779.1:p.Glu953fs
NP_001394780.1:p.Glu953fs
NP_001394781.1:p.Glu953fs
NP_001394782.1:p.Glu929fs
NP_001394783.1:p.Glu1000fs
NP_001394787.1:p.Glu1000fs
NP_001394788.1:p.Glu1000fs
NP_001394789.1:p.Glu999fs
NP_001394790.1:p.Glu999fs
NP_001394791.1:p.Glu933fs
NP_001394792.1:p.Glu959fs
NP_001394803.1:p.Glu932fs
NP_001394804.1:p.Glu932fs
NP_001394808.1:p.Glu930fs
NP_001394810.1:p.Glu930fs
NP_001394811.1:p.Glu930fs
NP_001394813.1:p.Glu930fs
NP_001394814.1:p.Glu930fs
NP_001394815.1:p.Glu930fs
NP_001394816.1:p.Glu930fs
NP_001394818.1:p.Glu930fs
NP_001394823.1:p.Glu929fs
NP_001394824.1:p.Glu929fs
NP_001394825.1:p.Glu929fs
NP_001394826.1:p.Glu929fs
NP_001394827.1:p.Glu929fs
NP_001394828.1:p.Glu929fs
NP_001394829.1:p.Glu930fs
NP_001394831.1:p.Glu930fs
NP_001394833.1:p.Glu930fs
NP_001394835.1:p.Glu930fs
NP_001394836.1:p.Glu930fs
NP_001394837.1:p.Glu930fs
NP_001394838.1:p.Glu930fs
NP_001394839.1:p.Glu930fs
NP_001394844.1:p.Glu929fs
NP_001394845.1:p.Glu929fs
NP_001394846.1:p.Glu929fs
NP_001394847.1:p.Glu929fs
NP_001394848.1:p.Glu959fs
NP_001394849.1:p.Glu912fs
NP_001394850.1:p.Glu912fs
NP_001394851.1:p.Glu912fs
NP_001394852.1:p.Glu912fs
NP_001394853.1:p.Glu912fs
NP_001394854.1:p.Glu912fs
NP_001394855.1:p.Glu912fs
NP_001394856.1:p.Glu912fs
NP_001394857.1:p.Glu912fs
NP_001394858.1:p.Glu912fs
NP_001394859.1:p.Glu911fs
NP_001394860.1:p.Glu911fs
NP_001394861.1:p.Glu911fs
NP_001394862.1:p.Glu912fs
NP_001394863.1:p.Glu911fs
NP_001394864.1:p.Glu912fs
NP_001394865.1:p.Glu911fs
NP_001394866.1:p.Glu959fs
NP_001394867.1:p.Glu959fs
NP_001394868.1:p.Glu959fs
NP_001394869.1:p.Glu958fs
NP_001394870.1:p.Glu958fs
NP_001394871.1:p.Glu953fs
NP_001394872.1:p.Glu952fs
NP_001394873.1:p.Glu953fs
NP_001394874.1:p.Glu953fs
NP_001394875.1:p.Glu889fs
NP_001394876.1:p.Glu889fs
NP_001394877.1:p.Glu889fs
NP_001394878.1:p.Glu889fs
NP_001394879.1:p.Glu889fs
NP_001394880.1:p.Glu889fs
NP_001394881.1:p.Glu889fs
NP_001394882.1:p.Glu889fs
NP_001394883.1:p.Glu888fs
NP_001394884.1:p.Glu888fs
NP_001394885.1:p.Glu888fs
NP_001394886.1:p.Glu889fs
NP_001394887.1:p.Glu888fs
NP_001394888.1:p.Glu873fs
NP_001394889.1:p.Glu873fs
NP_001394891.1:p.Glu872fs
NP_001394892.1:p.Glu873fs
NP_001394893.1:p.Glu952fs
NP_001394894.1:p.Glu832fs
NP_001394895.1:p.Glu704fs
NP_001394896.1:p.Glu704fs
NP_009225.1:p.Glu1000Glyfs
NP_009225.1:p.Glu1000fs
NP_009228.2:p.Glu953fs
NP_009231.2:p.Glu1000fs
LRG_292t1:c.2999del
LRG_292:g.125452del
LRG_292p1:p.Glu1000Glyfs
NC_000017.10:g.41244549del
NC_000017.10:g.41244549delT
NM_007294.3:c.2999delA
NM_007294.3:c.2999delA
NM_007294.4:c.2999del
NR_027676.1:n.3135delA
U14680.1:n.3118delA
p.Glu1000Glyfs*24

Nucleotide change:

3118delA

Protein change:

E1000fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 3118&base_change=del A; dbSNP: rs80357991

NCBI 1000 Genomes Browser:

rs80357991

Molecular consequence:

NM_001407571.1:c.2786del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.2996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.2996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.2996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.2996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.2996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.2996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.2996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.2996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.2996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.2996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.2996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.2996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.2996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.2996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.2996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.2996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.2996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.2996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.2996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.2996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.2996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.2996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.2996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.2990del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.2876del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.2921del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.2921del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.2921del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.2921del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.2921del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.2921del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.2918del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.2918del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.2918del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.2918del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.2921del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.2876del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.2876del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.2876del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.2876del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.2876del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.2876del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.2876del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.2876del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.2876del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.2876del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.2876del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.2876del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.2876del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.2876del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.2876del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.2876del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.2786del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.2996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.2996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.2798del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.2876del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.2795del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.2795del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.2789del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.2789del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.2789del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.2789del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.2789del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.2789del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.2789del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.2789del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.2786del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.2786del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.2786del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.2786del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.2786del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.2786del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.2789del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.2789del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.2789del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.2789del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.2789del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.2789del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.2789del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.2789del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.2786del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.2786del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.2786del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.2786del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.2876del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.2735del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.2735del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.2735del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.2735del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.2735del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.2735del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.2735del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.2735del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.2735del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.2735del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.2732del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.2732del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.2732del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.2735del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.2732del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.2735del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.2732del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.2876del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.2876del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.2876del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.2873del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.2666del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.2666del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.2666del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.2666del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.2666del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.2666del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.2666del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.2666del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.2663del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.2663del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.2663del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.2666del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.2663del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.2618del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.2618del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.2615del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.2618del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.2855del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.2495del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.2111del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.2111del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.2858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.2999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.788-393del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-393del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1509del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1500del - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1500del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:: OVARIAN CANCER, SUSCEPTIBILITY TO; Breast cancer, familial 1
Identifiers:: MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Saccharomyces cerevisiae S288C uncharacterized protein (YOR389W), partial mRNA
Saccharomyces cerevisiae S288C uncharacterized protein (YOR389W), partial mRNA
gi|398366452|ref|NM_001183809.3|

Nucleotide
Rattus norvegicus sorbin and SH3 domain containing 3, mRNA (cDNA clone MGC:94509...
Rattus norvegicus sorbin and SH3 domain containing 3, mRNA (cDNA clone MGC:94509 IMAGE:7135547), complete cds
gi|53733472|gb|BC083666.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000115267	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (May 1, 2012)	germline	clinical testing
SCV000144604	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (May 29, 2002)	germline, unknown	clinical testing
SCV000282297	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Apr 22, 2016)	germline	curation	ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000325519	Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016)	Pathogenic (Oct 2, 2015)	germline	clinical testing	CIMBA_Mutation_Classification_guidelines_May16.pdf, Citation Link,
SCV004215170	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 7, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	3	not provided	not provided	3	not provided	clinical testing
not provided	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	5	not provided	not provided	not provided	clinical testing, curation
Central/Eastern European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
English	not provided	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000115267.4

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	3	not provided	not provided		not provided	not provided	not provided	not provided

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144604.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	not provided
2	Central/Eastern European	1	not provided	not provided	clinical testing	not provided
3	English	1	not provided	not provided	clinical testing	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		3	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
3	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000282297.1

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

Description

Variant allele predicted to encode a truncated non-functional protein.

#	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 Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325519.4

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

#	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	5	not provided

From Baylor Genetics, SCV004215170.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

ClinVar

Relating variation to medicine