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NM_007294.4(BRCA1):c.2973_2979del (p.Lys991fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 19, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000223360.11

Allele description [Variation Report for NM_007294.4(BRCA1):c.2973_2979del (p.Lys991fs)]

NM_007294.4(BRCA1):c.2973_2979del (p.Lys991fs)

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.2973_2979del (p.Lys991fs)
Other names:
3092_3098del7
HGVS:
  • NC_000017.11:g.43092554_43092560del
  • NG_005905.2:g.125426_125432del
  • NM_001407571.1:c.2760_2766del
  • NM_001407581.1:c.2973_2979del
  • NM_001407582.1:c.2973_2979del
  • NM_001407583.1:c.2973_2979del
  • NM_001407585.1:c.2973_2979del
  • NM_001407587.1:c.2970_2976del
  • NM_001407590.1:c.2970_2976del
  • NM_001407591.1:c.2970_2976del
  • NM_001407593.1:c.2973_2979del
  • NM_001407594.1:c.2973_2979del
  • NM_001407596.1:c.2973_2979del
  • NM_001407597.1:c.2973_2979del
  • NM_001407598.1:c.2973_2979del
  • NM_001407602.1:c.2973_2979del
  • NM_001407603.1:c.2973_2979del
  • NM_001407605.1:c.2973_2979del
  • NM_001407610.1:c.2970_2976del
  • NM_001407611.1:c.2970_2976del
  • NM_001407612.1:c.2970_2976del
  • NM_001407613.1:c.2970_2976del
  • NM_001407614.1:c.2970_2976del
  • NM_001407615.1:c.2970_2976del
  • NM_001407616.1:c.2973_2979del
  • NM_001407617.1:c.2973_2979del
  • NM_001407618.1:c.2973_2979del
  • NM_001407619.1:c.2973_2979del
  • NM_001407620.1:c.2973_2979del
  • NM_001407621.1:c.2973_2979del
  • NM_001407622.1:c.2973_2979del
  • NM_001407623.1:c.2973_2979del
  • NM_001407624.1:c.2973_2979del
  • NM_001407625.1:c.2973_2979del
  • NM_001407626.1:c.2973_2979del
  • NM_001407627.1:c.2970_2976del
  • NM_001407628.1:c.2970_2976del
  • NM_001407629.1:c.2970_2976del
  • NM_001407630.1:c.2970_2976del
  • NM_001407631.1:c.2970_2976del
  • NM_001407632.1:c.2970_2976del
  • NM_001407633.1:c.2970_2976del
  • NM_001407634.1:c.2970_2976del
  • NM_001407635.1:c.2970_2976del
  • NM_001407636.1:c.2970_2976del
  • NM_001407637.1:c.2970_2976del
  • NM_001407638.1:c.2970_2976del
  • NM_001407639.1:c.2973_2979del
  • NM_001407640.1:c.2973_2979del
  • NM_001407641.1:c.2973_2979del
  • NM_001407642.1:c.2973_2979del
  • NM_001407644.1:c.2970_2976del
  • NM_001407645.1:c.2970_2976del
  • NM_001407646.1:c.2964_2970del
  • NM_001407647.1:c.2964_2970del
  • NM_001407648.1:c.2850_2856del
  • NM_001407649.1:c.2847_2853del
  • NM_001407652.1:c.2973_2979del
  • NM_001407653.1:c.2895_2901del
  • NM_001407654.1:c.2895_2901del
  • NM_001407655.1:c.2895_2901del
  • NM_001407656.1:c.2895_2901del
  • NM_001407657.1:c.2895_2901del
  • NM_001407658.1:c.2895_2901del
  • NM_001407659.1:c.2892_2898del
  • NM_001407660.1:c.2892_2898del
  • NM_001407661.1:c.2892_2898del
  • NM_001407662.1:c.2892_2898del
  • NM_001407663.1:c.2895_2901del
  • NM_001407664.1:c.2850_2856del
  • NM_001407665.1:c.2850_2856del
  • NM_001407666.1:c.2850_2856del
  • NM_001407667.1:c.2850_2856del
  • NM_001407668.1:c.2850_2856del
  • NM_001407669.1:c.2850_2856del
  • NM_001407670.1:c.2847_2853del
  • NM_001407671.1:c.2847_2853del
  • NM_001407672.1:c.2847_2853del
  • NM_001407673.1:c.2847_2853del
  • NM_001407674.1:c.2850_2856del
  • NM_001407675.1:c.2850_2856del
  • NM_001407676.1:c.2850_2856del
  • NM_001407677.1:c.2850_2856del
  • NM_001407678.1:c.2850_2856del
  • NM_001407679.1:c.2850_2856del
  • NM_001407680.1:c.2850_2856del
  • NM_001407681.1:c.2850_2856del
  • NM_001407682.1:c.2850_2856del
  • NM_001407683.1:c.2850_2856del
  • NM_001407684.1:c.2973_2979del
  • NM_001407685.1:c.2847_2853del
  • NM_001407686.1:c.2847_2853del
  • NM_001407687.1:c.2847_2853del
  • NM_001407688.1:c.2847_2853del
  • NM_001407689.1:c.2847_2853del
  • NM_001407690.1:c.2847_2853del
  • NM_001407691.1:c.2847_2853del
  • NM_001407692.1:c.2832_2838del
  • NM_001407694.1:c.2832_2838del
  • NM_001407695.1:c.2832_2838del
  • NM_001407696.1:c.2832_2838del
  • NM_001407697.1:c.2832_2838del
  • NM_001407698.1:c.2832_2838del
  • NM_001407724.1:c.2832_2838del
  • NM_001407725.1:c.2832_2838del
  • NM_001407726.1:c.2832_2838del
  • NM_001407727.1:c.2832_2838del
  • NM_001407728.1:c.2832_2838del
  • NM_001407729.1:c.2832_2838del
  • NM_001407730.1:c.2832_2838del
  • NM_001407731.1:c.2832_2838del
  • NM_001407732.1:c.2832_2838del
  • NM_001407733.1:c.2832_2838del
  • NM_001407734.1:c.2832_2838del
  • NM_001407735.1:c.2832_2838del
  • NM_001407736.1:c.2832_2838del
  • NM_001407737.1:c.2832_2838del
  • NM_001407738.1:c.2832_2838del
  • NM_001407739.1:c.2832_2838del
  • NM_001407740.1:c.2829_2835del
  • NM_001407741.1:c.2829_2835del
  • NM_001407742.1:c.2829_2835del
  • NM_001407743.1:c.2829_2835del
  • NM_001407744.1:c.2829_2835del
  • NM_001407745.1:c.2829_2835del
  • NM_001407746.1:c.2829_2835del
  • NM_001407747.1:c.2829_2835del
  • NM_001407748.1:c.2829_2835del
  • NM_001407749.1:c.2829_2835del
  • NM_001407750.1:c.2832_2838del
  • NM_001407751.1:c.2832_2838del
  • NM_001407752.1:c.2832_2838del
  • NM_001407838.1:c.2829_2835del
  • NM_001407839.1:c.2829_2835del
  • NM_001407841.1:c.2829_2835del
  • NM_001407842.1:c.2829_2835del
  • NM_001407843.1:c.2829_2835del
  • NM_001407844.1:c.2829_2835del
  • NM_001407845.1:c.2829_2835del
  • NM_001407846.1:c.2829_2835del
  • NM_001407847.1:c.2829_2835del
  • NM_001407848.1:c.2829_2835del
  • NM_001407849.1:c.2829_2835del
  • NM_001407850.1:c.2832_2838del
  • NM_001407851.1:c.2832_2838del
  • NM_001407852.1:c.2832_2838del
  • NM_001407853.1:c.2760_2766del
  • NM_001407854.1:c.2973_2979del
  • NM_001407858.1:c.2973_2979del
  • NM_001407859.1:c.2973_2979del
  • NM_001407860.1:c.2970_2976del
  • NM_001407861.1:c.2970_2976del
  • NM_001407862.1:c.2772_2778del
  • NM_001407863.1:c.2850_2856del
  • NM_001407874.1:c.2769_2775del
  • NM_001407875.1:c.2769_2775del
  • NM_001407879.1:c.2763_2769del
  • NM_001407881.1:c.2763_2769del
  • NM_001407882.1:c.2763_2769del
  • NM_001407884.1:c.2763_2769del
  • NM_001407885.1:c.2763_2769del
  • NM_001407886.1:c.2763_2769del
  • NM_001407887.1:c.2763_2769del
  • NM_001407889.1:c.2763_2769del
  • NM_001407894.1:c.2760_2766del
  • NM_001407895.1:c.2760_2766del
  • NM_001407896.1:c.2760_2766del
  • NM_001407897.1:c.2760_2766del
  • NM_001407898.1:c.2760_2766del
  • NM_001407899.1:c.2760_2766del
  • NM_001407900.1:c.2763_2769del
  • NM_001407902.1:c.2763_2769del
  • NM_001407904.1:c.2763_2769del
  • NM_001407906.1:c.2763_2769del
  • NM_001407907.1:c.2763_2769del
  • NM_001407908.1:c.2763_2769del
  • NM_001407909.1:c.2763_2769del
  • NM_001407910.1:c.2763_2769del
  • NM_001407915.1:c.2760_2766del
  • NM_001407916.1:c.2760_2766del
  • NM_001407917.1:c.2760_2766del
  • NM_001407918.1:c.2760_2766del
  • NM_001407919.1:c.2850_2856del
  • NM_001407920.1:c.2709_2715del
  • NM_001407921.1:c.2709_2715del
  • NM_001407922.1:c.2709_2715del
  • NM_001407923.1:c.2709_2715del
  • NM_001407924.1:c.2709_2715del
  • NM_001407925.1:c.2709_2715del
  • NM_001407926.1:c.2709_2715del
  • NM_001407927.1:c.2709_2715del
  • NM_001407928.1:c.2709_2715del
  • NM_001407929.1:c.2709_2715del
  • NM_001407930.1:c.2706_2712del
  • NM_001407931.1:c.2706_2712del
  • NM_001407932.1:c.2706_2712del
  • NM_001407933.1:c.2709_2715del
  • NM_001407934.1:c.2706_2712del
  • NM_001407935.1:c.2709_2715del
  • NM_001407936.1:c.2706_2712del
  • NM_001407937.1:c.2850_2856del
  • NM_001407938.1:c.2850_2856del
  • NM_001407939.1:c.2850_2856del
  • NM_001407940.1:c.2847_2853del
  • NM_001407941.1:c.2847_2853del
  • NM_001407942.1:c.2832_2838del
  • NM_001407943.1:c.2829_2835del
  • NM_001407944.1:c.2832_2838del
  • NM_001407945.1:c.2832_2838del
  • NM_001407946.1:c.2640_2646del
  • NM_001407947.1:c.2640_2646del
  • NM_001407948.1:c.2640_2646del
  • NM_001407949.1:c.2640_2646del
  • NM_001407950.1:c.2640_2646del
  • NM_001407951.1:c.2640_2646del
  • NM_001407952.1:c.2640_2646del
  • NM_001407953.1:c.2640_2646del
  • NM_001407954.1:c.2637_2643del
  • NM_001407955.1:c.2637_2643del
  • NM_001407956.1:c.2637_2643del
  • NM_001407957.1:c.2640_2646del
  • NM_001407958.1:c.2637_2643del
  • NM_001407959.1:c.2592_2598del
  • NM_001407960.1:c.2592_2598del
  • NM_001407962.1:c.2589_2595del
  • NM_001407963.1:c.2592_2598del
  • NM_001407964.1:c.2829_2835del
  • NM_001407965.1:c.2469_2475del
  • NM_001407966.1:c.2085_2091del
  • NM_001407967.1:c.2085_2091del
  • NM_001407968.1:c.788-419_788-413del
  • NM_001407969.1:c.788-419_788-413del
  • NM_001407970.1:c.788-1526_788-1520del
  • NM_001407971.1:c.788-1526_788-1520del
  • NM_001407972.1:c.785-1526_785-1520del
  • NM_001407973.1:c.788-1526_788-1520del
  • NM_001407974.1:c.788-1526_788-1520del
  • NM_001407975.1:c.788-1526_788-1520del
  • NM_001407976.1:c.788-1526_788-1520del
  • NM_001407977.1:c.788-1526_788-1520del
  • NM_001407978.1:c.788-1526_788-1520del
  • NM_001407979.1:c.788-1526_788-1520del
  • NM_001407980.1:c.788-1526_788-1520del
  • NM_001407981.1:c.788-1526_788-1520del
  • NM_001407982.1:c.788-1526_788-1520del
  • NM_001407983.1:c.788-1526_788-1520del
  • NM_001407984.1:c.785-1526_785-1520del
  • NM_001407985.1:c.785-1526_785-1520del
  • NM_001407986.1:c.785-1526_785-1520del
  • NM_001407990.1:c.788-1526_788-1520del
  • NM_001407991.1:c.785-1526_785-1520del
  • NM_001407992.1:c.785-1526_785-1520del
  • NM_001407993.1:c.788-1526_788-1520del
  • NM_001408392.1:c.785-1526_785-1520del
  • NM_001408396.1:c.785-1526_785-1520del
  • NM_001408397.1:c.785-1526_785-1520del
  • NM_001408398.1:c.785-1526_785-1520del
  • NM_001408399.1:c.785-1526_785-1520del
  • NM_001408400.1:c.785-1526_785-1520del
  • NM_001408401.1:c.785-1526_785-1520del
  • NM_001408402.1:c.785-1526_785-1520del
  • NM_001408403.1:c.788-1526_788-1520del
  • NM_001408404.1:c.788-1526_788-1520del
  • NM_001408406.1:c.791-1535_791-1529del
  • NM_001408407.1:c.785-1526_785-1520del
  • NM_001408408.1:c.779-1526_779-1520del
  • NM_001408409.1:c.710-1526_710-1520del
  • NM_001408410.1:c.647-1526_647-1520del
  • NM_001408411.1:c.710-1526_710-1520del
  • NM_001408412.1:c.710-1526_710-1520del
  • NM_001408413.1:c.707-1526_707-1520del
  • NM_001408414.1:c.710-1526_710-1520del
  • NM_001408415.1:c.710-1526_710-1520del
  • NM_001408416.1:c.707-1526_707-1520del
  • NM_001408418.1:c.671-1526_671-1520del
  • NM_001408419.1:c.671-1526_671-1520del
  • NM_001408420.1:c.671-1526_671-1520del
  • NM_001408421.1:c.668-1526_668-1520del
  • NM_001408422.1:c.671-1526_671-1520del
  • NM_001408423.1:c.671-1526_671-1520del
  • NM_001408424.1:c.668-1526_668-1520del
  • NM_001408425.1:c.665-1526_665-1520del
  • NM_001408426.1:c.665-1526_665-1520del
  • NM_001408427.1:c.665-1526_665-1520del
  • NM_001408428.1:c.665-1526_665-1520del
  • NM_001408429.1:c.665-1526_665-1520del
  • NM_001408430.1:c.665-1526_665-1520del
  • NM_001408431.1:c.668-1526_668-1520del
  • NM_001408432.1:c.662-1526_662-1520del
  • NM_001408433.1:c.662-1526_662-1520del
  • NM_001408434.1:c.662-1526_662-1520del
  • NM_001408435.1:c.662-1526_662-1520del
  • NM_001408436.1:c.665-1526_665-1520del
  • NM_001408437.1:c.665-1526_665-1520del
  • NM_001408438.1:c.665-1526_665-1520del
  • NM_001408439.1:c.665-1526_665-1520del
  • NM_001408440.1:c.665-1526_665-1520del
  • NM_001408441.1:c.665-1526_665-1520del
  • NM_001408442.1:c.665-1526_665-1520del
  • NM_001408443.1:c.665-1526_665-1520del
  • NM_001408444.1:c.665-1526_665-1520del
  • NM_001408445.1:c.662-1526_662-1520del
  • NM_001408446.1:c.662-1526_662-1520del
  • NM_001408447.1:c.662-1526_662-1520del
  • NM_001408448.1:c.662-1526_662-1520del
  • NM_001408450.1:c.662-1526_662-1520del
  • NM_001408451.1:c.653-1526_653-1520del
  • NM_001408452.1:c.647-1526_647-1520del
  • NM_001408453.1:c.647-1526_647-1520del
  • NM_001408454.1:c.647-1526_647-1520del
  • NM_001408455.1:c.647-1526_647-1520del
  • NM_001408456.1:c.647-1526_647-1520del
  • NM_001408457.1:c.647-1526_647-1520del
  • NM_001408458.1:c.647-1526_647-1520del
  • NM_001408459.1:c.647-1526_647-1520del
  • NM_001408460.1:c.647-1526_647-1520del
  • NM_001408461.1:c.647-1526_647-1520del
  • NM_001408462.1:c.644-1526_644-1520del
  • NM_001408463.1:c.644-1526_644-1520del
  • NM_001408464.1:c.644-1526_644-1520del
  • NM_001408465.1:c.644-1526_644-1520del
  • NM_001408466.1:c.647-1526_647-1520del
  • NM_001408467.1:c.647-1526_647-1520del
  • NM_001408468.1:c.644-1526_644-1520del
  • NM_001408469.1:c.647-1526_647-1520del
  • NM_001408470.1:c.644-1526_644-1520del
  • NM_001408472.1:c.788-1526_788-1520del
  • NM_001408473.1:c.785-1526_785-1520del
  • NM_001408474.1:c.587-1526_587-1520del
  • NM_001408475.1:c.584-1526_584-1520del
  • NM_001408476.1:c.587-1526_587-1520del
  • NM_001408478.1:c.578-1526_578-1520del
  • NM_001408479.1:c.578-1526_578-1520del
  • NM_001408480.1:c.578-1526_578-1520del
  • NM_001408481.1:c.578-1526_578-1520del
  • NM_001408482.1:c.578-1526_578-1520del
  • NM_001408483.1:c.578-1526_578-1520del
  • NM_001408484.1:c.578-1526_578-1520del
  • NM_001408485.1:c.578-1526_578-1520del
  • NM_001408489.1:c.578-1526_578-1520del
  • NM_001408490.1:c.575-1526_575-1520del
  • NM_001408491.1:c.575-1526_575-1520del
  • NM_001408492.1:c.578-1526_578-1520del
  • NM_001408493.1:c.575-1526_575-1520del
  • NM_001408494.1:c.548-1526_548-1520del
  • NM_001408495.1:c.545-1526_545-1520del
  • NM_001408496.1:c.524-1526_524-1520del
  • NM_001408497.1:c.524-1526_524-1520del
  • NM_001408498.1:c.524-1526_524-1520del
  • NM_001408499.1:c.524-1526_524-1520del
  • NM_001408500.1:c.524-1526_524-1520del
  • NM_001408501.1:c.524-1526_524-1520del
  • NM_001408502.1:c.455-1526_455-1520del
  • NM_001408503.1:c.521-1526_521-1520del
  • NM_001408504.1:c.521-1526_521-1520del
  • NM_001408505.1:c.521-1526_521-1520del
  • NM_001408506.1:c.461-1526_461-1520del
  • NM_001408507.1:c.461-1526_461-1520del
  • NM_001408508.1:c.452-1526_452-1520del
  • NM_001408509.1:c.452-1526_452-1520del
  • NM_001408510.1:c.407-1526_407-1520del
  • NM_001408511.1:c.404-1526_404-1520del
  • NM_001408512.1:c.284-1526_284-1520del
  • NM_001408513.1:c.578-1526_578-1520del
  • NM_001408514.1:c.578-1526_578-1520del
  • NM_007294.4:c.2973_2979delMANE SELECT
  • NM_007297.4:c.2832_2838del
  • NM_007298.4:c.788-1526_788-1520del
  • NM_007299.4:c.788-1526_788-1520del
  • NM_007300.4:c.2973_2979del
  • NP_001394500.1:p.Lys920fs
  • NP_001394510.1:p.Lys991fs
  • NP_001394511.1:p.Lys991fs
  • NP_001394512.1:p.Lys991fs
  • NP_001394514.1:p.Lys991fs
  • NP_001394516.1:p.Lys990fs
  • NP_001394519.1:p.Lys990fs
  • NP_001394520.1:p.Lys990fs
  • NP_001394522.1:p.Lys991fs
  • NP_001394523.1:p.Lys991fs
  • NP_001394525.1:p.Lys991fs
  • NP_001394526.1:p.Lys991fs
  • NP_001394527.1:p.Lys991fs
  • NP_001394531.1:p.Lys991fs
  • NP_001394532.1:p.Lys991fs
  • NP_001394534.1:p.Lys991fs
  • NP_001394539.1:p.Lys990fs
  • NP_001394540.1:p.Lys990fs
  • NP_001394541.1:p.Lys990fs
  • NP_001394542.1:p.Lys990fs
  • NP_001394543.1:p.Lys990fs
  • NP_001394544.1:p.Lys990fs
  • NP_001394545.1:p.Lys991fs
  • NP_001394546.1:p.Lys991fs
  • NP_001394547.1:p.Lys991fs
  • NP_001394548.1:p.Lys991fs
  • NP_001394549.1:p.Lys991fs
  • NP_001394550.1:p.Lys991fs
  • NP_001394551.1:p.Lys991fs
  • NP_001394552.1:p.Lys991fs
  • NP_001394553.1:p.Lys991fs
  • NP_001394554.1:p.Lys991fs
  • NP_001394555.1:p.Lys991fs
  • NP_001394556.1:p.Lys990fs
  • NP_001394557.1:p.Lys990fs
  • NP_001394558.1:p.Lys990fs
  • NP_001394559.1:p.Lys990fs
  • NP_001394560.1:p.Lys990fs
  • NP_001394561.1:p.Lys990fs
  • NP_001394562.1:p.Lys990fs
  • NP_001394563.1:p.Lys990fs
  • NP_001394564.1:p.Lys990fs
  • NP_001394565.1:p.Lys990fs
  • NP_001394566.1:p.Lys990fs
  • NP_001394567.1:p.Lys990fs
  • NP_001394568.1:p.Lys991fs
  • NP_001394569.1:p.Lys991fs
  • NP_001394570.1:p.Lys991fs
  • NP_001394571.1:p.Lys991fs
  • NP_001394573.1:p.Lys990fs
  • NP_001394574.1:p.Lys990fs
  • NP_001394575.1:p.Lys988fs
  • NP_001394576.1:p.Lys988fs
  • NP_001394577.1:p.Lys950fs
  • NP_001394578.1:p.Lys949fs
  • NP_001394581.1:p.Lys991fs
  • NP_001394582.1:p.Lys965fs
  • NP_001394583.1:p.Lys965fs
  • NP_001394584.1:p.Lys965fs
  • NP_001394585.1:p.Lys965fs
  • NP_001394586.1:p.Lys965fs
  • NP_001394587.1:p.Lys965fs
  • NP_001394588.1:p.Lys964fs
  • NP_001394589.1:p.Lys964fs
  • NP_001394590.1:p.Lys964fs
  • NP_001394591.1:p.Lys964fs
  • NP_001394592.1:p.Lys965fs
  • NP_001394593.1:p.Lys950fs
  • NP_001394594.1:p.Lys950fs
  • NP_001394595.1:p.Lys950fs
  • NP_001394596.1:p.Lys950fs
  • NP_001394597.1:p.Lys950fs
  • NP_001394598.1:p.Lys950fs
  • NP_001394599.1:p.Lys949fs
  • NP_001394600.1:p.Lys949fs
  • NP_001394601.1:p.Lys949fs
  • NP_001394602.1:p.Lys949fs
  • NP_001394603.1:p.Lys950fs
  • NP_001394604.1:p.Lys950fs
  • NP_001394605.1:p.Lys950fs
  • NP_001394606.1:p.Lys950fs
  • NP_001394607.1:p.Lys950fs
  • NP_001394608.1:p.Lys950fs
  • NP_001394609.1:p.Lys950fs
  • NP_001394610.1:p.Lys950fs
  • NP_001394611.1:p.Lys950fs
  • NP_001394612.1:p.Lys950fs
  • NP_001394613.1:p.Lys991fs
  • NP_001394614.1:p.Lys949fs
  • NP_001394615.1:p.Lys949fs
  • NP_001394616.1:p.Lys949fs
  • NP_001394617.1:p.Lys949fs
  • NP_001394618.1:p.Lys949fs
  • NP_001394619.1:p.Lys949fs
  • NP_001394620.1:p.Lys949fs
  • NP_001394621.1:p.Lys944fs
  • NP_001394623.1:p.Lys944fs
  • NP_001394624.1:p.Lys944fs
  • NP_001394625.1:p.Lys944fs
  • NP_001394626.1:p.Lys944fs
  • NP_001394627.1:p.Lys944fs
  • NP_001394653.1:p.Lys944fs
  • NP_001394654.1:p.Lys944fs
  • NP_001394655.1:p.Lys944fs
  • NP_001394656.1:p.Lys944fs
  • NP_001394657.1:p.Lys944fs
  • NP_001394658.1:p.Lys944fs
  • NP_001394659.1:p.Lys944fs
  • NP_001394660.1:p.Lys944fs
  • NP_001394661.1:p.Lys944fs
  • NP_001394662.1:p.Lys944fs
  • NP_001394663.1:p.Lys944fs
  • NP_001394664.1:p.Lys944fs
  • NP_001394665.1:p.Lys944fs
  • NP_001394666.1:p.Lys944fs
  • NP_001394667.1:p.Lys944fs
  • NP_001394668.1:p.Lys944fs
  • NP_001394669.1:p.Lys943fs
  • NP_001394670.1:p.Lys943fs
  • NP_001394671.1:p.Lys943fs
  • NP_001394672.1:p.Lys943fs
  • NP_001394673.1:p.Lys943fs
  • NP_001394674.1:p.Lys943fs
  • NP_001394675.1:p.Lys943fs
  • NP_001394676.1:p.Lys943fs
  • NP_001394677.1:p.Lys943fs
  • NP_001394678.1:p.Lys943fs
  • NP_001394679.1:p.Lys944fs
  • NP_001394680.1:p.Lys944fs
  • NP_001394681.1:p.Lys944fs
  • NP_001394767.1:p.Lys943fs
  • NP_001394768.1:p.Lys943fs
  • NP_001394770.1:p.Lys943fs
  • NP_001394771.1:p.Lys943fs
  • NP_001394772.1:p.Lys943fs
  • NP_001394773.1:p.Lys943fs
  • NP_001394774.1:p.Lys943fs
  • NP_001394775.1:p.Lys943fs
  • NP_001394776.1:p.Lys943fs
  • NP_001394777.1:p.Lys943fs
  • NP_001394778.1:p.Lys943fs
  • NP_001394779.1:p.Lys944fs
  • NP_001394780.1:p.Lys944fs
  • NP_001394781.1:p.Lys944fs
  • NP_001394782.1:p.Lys920fs
  • NP_001394783.1:p.Lys991fs
  • NP_001394787.1:p.Lys991fs
  • NP_001394788.1:p.Lys991fs
  • NP_001394789.1:p.Lys990fs
  • NP_001394790.1:p.Lys990fs
  • NP_001394791.1:p.Lys924fs
  • NP_001394792.1:p.Lys950fs
  • NP_001394803.1:p.Lys923fs
  • NP_001394804.1:p.Lys923fs
  • NP_001394808.1:p.Lys921fs
  • NP_001394810.1:p.Lys921fs
  • NP_001394811.1:p.Lys921fs
  • NP_001394813.1:p.Lys921fs
  • NP_001394814.1:p.Lys921fs
  • NP_001394815.1:p.Lys921fs
  • NP_001394816.1:p.Lys921fs
  • NP_001394818.1:p.Lys921fs
  • NP_001394823.1:p.Lys920fs
  • NP_001394824.1:p.Lys920fs
  • NP_001394825.1:p.Lys920fs
  • NP_001394826.1:p.Lys920fs
  • NP_001394827.1:p.Lys920fs
  • NP_001394828.1:p.Lys920fs
  • NP_001394829.1:p.Lys921fs
  • NP_001394831.1:p.Lys921fs
  • NP_001394833.1:p.Lys921fs
  • NP_001394835.1:p.Lys921fs
  • NP_001394836.1:p.Lys921fs
  • NP_001394837.1:p.Lys921fs
  • NP_001394838.1:p.Lys921fs
  • NP_001394839.1:p.Lys921fs
  • NP_001394844.1:p.Lys920fs
  • NP_001394845.1:p.Lys920fs
  • NP_001394846.1:p.Lys920fs
  • NP_001394847.1:p.Lys920fs
  • NP_001394848.1:p.Lys950fs
  • NP_001394849.1:p.Lys903fs
  • NP_001394850.1:p.Lys903fs
  • NP_001394851.1:p.Lys903fs
  • NP_001394852.1:p.Lys903fs
  • NP_001394853.1:p.Lys903fs
  • NP_001394854.1:p.Lys903fs
  • NP_001394855.1:p.Lys903fs
  • NP_001394856.1:p.Lys903fs
  • NP_001394857.1:p.Lys903fs
  • NP_001394858.1:p.Lys903fs
  • NP_001394859.1:p.Lys902fs
  • NP_001394860.1:p.Lys902fs
  • NP_001394861.1:p.Lys902fs
  • NP_001394862.1:p.Lys903fs
  • NP_001394863.1:p.Lys902fs
  • NP_001394864.1:p.Lys903fs
  • NP_001394865.1:p.Lys902fs
  • NP_001394866.1:p.Lys950fs
  • NP_001394867.1:p.Lys950fs
  • NP_001394868.1:p.Lys950fs
  • NP_001394869.1:p.Lys949fs
  • NP_001394870.1:p.Lys949fs
  • NP_001394871.1:p.Lys944fs
  • NP_001394872.1:p.Lys943fs
  • NP_001394873.1:p.Lys944fs
  • NP_001394874.1:p.Lys944fs
  • NP_001394875.1:p.Lys880fs
  • NP_001394876.1:p.Lys880fs
  • NP_001394877.1:p.Lys880fs
  • NP_001394878.1:p.Lys880fs
  • NP_001394879.1:p.Lys880fs
  • NP_001394880.1:p.Lys880fs
  • NP_001394881.1:p.Lys880fs
  • NP_001394882.1:p.Lys880fs
  • NP_001394883.1:p.Lys879fs
  • NP_001394884.1:p.Lys879fs
  • NP_001394885.1:p.Lys879fs
  • NP_001394886.1:p.Lys880fs
  • NP_001394887.1:p.Lys879fs
  • NP_001394888.1:p.Lys864fs
  • NP_001394889.1:p.Lys864fs
  • NP_001394891.1:p.Lys863fs
  • NP_001394892.1:p.Lys864fs
  • NP_001394893.1:p.Lys943fs
  • NP_001394894.1:p.Lys823fs
  • NP_001394895.1:p.Lys695fs
  • NP_001394896.1:p.Lys695fs
  • NP_009225.1:p.Lys991Asnfs
  • NP_009225.1:p.Lys991fs
  • NP_009228.2:p.Lys944fs
  • NP_009231.2:p.Lys991fs
  • LRG_292t1:c.2971_2977del
  • LRG_292:g.125426_125432del
  • LRG_292p1:p.Lys991Asnfs
  • NC_000017.10:g.41244571_41244577del
  • NM_007294.3:c.2971_2977delAAAACTA
  • NM_007294.3:c.2972_2978delAAACTAA
  • NM_007294.3:c.2973_2979delAACTAAA
  • NM_007294.3:c.2973_2979delAACTAAA
  • NR_027676.1:n.3107_3113delAAAACTA
  • p.Lys991fs
Protein change:
K695fs
Links:
dbSNP: rs397509030
NCBI 1000 Genomes Browser:
rs397509030
Molecular consequence:
  • NM_001407571.1:c.2760_2766del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.2970_2976del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.2970_2976del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.2970_2976del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.2970_2976del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.2970_2976del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.2970_2976del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.2970_2976del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.2970_2976del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.2970_2976del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.2970_2976del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.2970_2976del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.2970_2976del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.2970_2976del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.2970_2976del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.2970_2976del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.2970_2976del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.2970_2976del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.2970_2976del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.2970_2976del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.2970_2976del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.2970_2976del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.2970_2976del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.2970_2976del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.2964_2970del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.2964_2970del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.2850_2856del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.2847_2853del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.2895_2901del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.2895_2901del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.2895_2901del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.2895_2901del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.2895_2901del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.2895_2901del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.2892_2898del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.2892_2898del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.2892_2898del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.2892_2898del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.2895_2901del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.2850_2856del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.2850_2856del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.2850_2856del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.2850_2856del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.2850_2856del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.2850_2856del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.2847_2853del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.2847_2853del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.2847_2853del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.2847_2853del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.2850_2856del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.2850_2856del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.2850_2856del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.2850_2856del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.2850_2856del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.2850_2856del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.2850_2856del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.2850_2856del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.2850_2856del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.2850_2856del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.2847_2853del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.2847_2853del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.2847_2853del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.2847_2853del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.2847_2853del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.2847_2853del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.2847_2853del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.2829_2835del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.2829_2835del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.2829_2835del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.2829_2835del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.2829_2835del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.2829_2835del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.2829_2835del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.2829_2835del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.2829_2835del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.2829_2835del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.2829_2835del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.2829_2835del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.2829_2835del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.2829_2835del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.2829_2835del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.2829_2835del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.2829_2835del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.2829_2835del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.2829_2835del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.2829_2835del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.2829_2835del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.2760_2766del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.2970_2976del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.2970_2976del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.2772_2778del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.2850_2856del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.2769_2775del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.2769_2775del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.2763_2769del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.2763_2769del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.2763_2769del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.2763_2769del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.2763_2769del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.2763_2769del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.2763_2769del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.2763_2769del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.2760_2766del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.2760_2766del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.2760_2766del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.2760_2766del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.2760_2766del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.2760_2766del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.2763_2769del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.2763_2769del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.2763_2769del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.2763_2769del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.2763_2769del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.2763_2769del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.2763_2769del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.2763_2769del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.2760_2766del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.2760_2766del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.2760_2766del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.2760_2766del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.2850_2856del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.2709_2715del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.2709_2715del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.2709_2715del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.2709_2715del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.2709_2715del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.2709_2715del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.2709_2715del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.2709_2715del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.2709_2715del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.2709_2715del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.2706_2712del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.2706_2712del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.2706_2712del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.2709_2715del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.2706_2712del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.2709_2715del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.2706_2712del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.2850_2856del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.2850_2856del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.2850_2856del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.2847_2853del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.2847_2853del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.2829_2835del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.2640_2646del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.2640_2646del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.2640_2646del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.2640_2646del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.2640_2646del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.2640_2646del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.2640_2646del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.2640_2646del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.2637_2643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.2637_2643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.2637_2643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.2640_2646del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.2637_2643del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.2592_2598del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.2592_2598del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.2589_2595del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.2592_2598del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.2829_2835del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.2469_2475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.2085_2091del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.2085_2091del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.2832_2838del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.2973_2979del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.788-419_788-413del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-419_788-413del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1526_788-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1526_788-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1526_785-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1526_788-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1526_788-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1526_788-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1526_788-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1526_788-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1526_788-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1526_788-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1526_788-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1526_788-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1526_788-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1526_788-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1526_785-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1526_785-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1526_785-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1526_788-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1526_785-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1526_785-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1526_788-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1526_785-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1526_785-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1526_785-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1526_785-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1526_785-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1526_785-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1526_785-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1526_785-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1526_788-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1526_788-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1535_791-1529del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1526_785-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1526_779-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1526_710-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1526_647-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1526_710-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1526_710-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1526_707-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1526_710-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1526_710-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1526_707-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1526_671-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1526_671-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1526_671-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1526_668-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1526_671-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1526_671-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1526_668-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1526_665-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1526_665-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1526_665-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1526_665-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1526_665-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1526_665-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1526_668-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1526_662-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1526_662-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1526_662-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1526_662-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1526_665-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1526_665-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1526_665-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1526_665-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1526_665-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1526_665-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1526_665-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1526_665-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1526_665-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1526_662-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1526_662-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1526_662-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1526_662-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1526_662-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1526_653-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1526_647-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1526_647-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1526_647-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1526_647-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1526_647-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1526_647-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1526_647-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1526_647-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1526_647-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1526_647-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1526_644-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1526_644-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1526_644-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1526_644-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1526_647-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1526_647-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1526_644-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1526_647-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1526_644-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1526_788-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1526_785-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1526_587-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1526_584-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1526_587-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1526_578-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1526_578-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1526_578-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1526_578-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1526_578-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1526_578-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1526_578-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1526_578-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1526_578-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1526_575-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1526_575-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1526_578-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1526_575-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1526_548-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1526_545-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1526_524-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1526_524-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1526_524-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1526_524-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1526_524-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1526_524-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1526_455-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1526_521-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1526_521-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1526_521-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1526_461-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1526_461-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1526_452-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1526_452-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1526_407-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1526_404-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1526_284-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1526_578-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1526_578-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1526_788-1520del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1526_788-1520del - 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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000273546Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Pathogenic
(Jan 19, 2015)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

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

Citations

PubMed

Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada.

Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Fan I, Tang J, Li S, Zhang S, Shaw PA, Narod SA.

J Natl Cancer Inst. 2006 Dec 6;98(23):1694-706.

PubMed [citation]
PMID:
17148771

Details of each submission

From Ambry Genetics, SCV000273546.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The c.2973_2979delAACTAAA pathogenic mutation (also known as 3092del7), located in coding exon 9 of the BRCA1 gene, results from a deletion of 7 nucleotides between positions 2973 and 2979 causing a translational frameshift with a predicted alternate stop codon. This mutation has been reported in a female of mixed European ancestry diagnosed with ovarian cancer (Risch HA et al. J. Natl. Cancer Inst. 2006 Dec; 98(23):1694-706). In addition to the clinical data presented in the literature, since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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

Last Updated: Nov 24, 2024