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NM_007294.4(BRCA1):c.3021_3058del (p.Met1008fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 5, 2023
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:
RCV003644649.2

Allele description [Variation Report for NM_007294.4(BRCA1):c.3021_3058del (p.Met1008fs)]

NM_007294.4(BRCA1):c.3021_3058del (p.Met1008fs)

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.3021_3058del (p.Met1008fs)
HGVS:
  • NC_000017.11:g.43092481_43092518del
  • NG_005905.2:g.125474_125511del
  • NM_001407571.1:c.2808_2845del
  • NM_001407581.1:c.3021_3058del
  • NM_001407582.1:c.3021_3058del
  • NM_001407583.1:c.3021_3058del
  • NM_001407585.1:c.3021_3058del
  • NM_001407587.1:c.3018_3055del
  • NM_001407590.1:c.3018_3055del
  • NM_001407591.1:c.3018_3055del
  • NM_001407593.1:c.3021_3058del
  • NM_001407594.1:c.3021_3058del
  • NM_001407596.1:c.3021_3058del
  • NM_001407597.1:c.3021_3058del
  • NM_001407598.1:c.3021_3058del
  • NM_001407602.1:c.3021_3058del
  • NM_001407603.1:c.3021_3058del
  • NM_001407605.1:c.3021_3058del
  • NM_001407610.1:c.3018_3055del
  • NM_001407611.1:c.3018_3055del
  • NM_001407612.1:c.3018_3055del
  • NM_001407613.1:c.3018_3055del
  • NM_001407614.1:c.3018_3055del
  • NM_001407615.1:c.3018_3055del
  • NM_001407616.1:c.3021_3058del
  • NM_001407617.1:c.3021_3058del
  • NM_001407618.1:c.3021_3058del
  • NM_001407619.1:c.3021_3058del
  • NM_001407620.1:c.3021_3058del
  • NM_001407621.1:c.3021_3058del
  • NM_001407622.1:c.3021_3058del
  • NM_001407623.1:c.3021_3058del
  • NM_001407624.1:c.3021_3058del
  • NM_001407625.1:c.3021_3058del
  • NM_001407626.1:c.3021_3058del
  • NM_001407627.1:c.3018_3055del
  • NM_001407628.1:c.3018_3055del
  • NM_001407629.1:c.3018_3055del
  • NM_001407630.1:c.3018_3055del
  • NM_001407631.1:c.3018_3055del
  • NM_001407632.1:c.3018_3055del
  • NM_001407633.1:c.3018_3055del
  • NM_001407634.1:c.3018_3055del
  • NM_001407635.1:c.3018_3055del
  • NM_001407636.1:c.3018_3055del
  • NM_001407637.1:c.3018_3055del
  • NM_001407638.1:c.3018_3055del
  • NM_001407639.1:c.3021_3058del
  • NM_001407640.1:c.3021_3058del
  • NM_001407641.1:c.3021_3058del
  • NM_001407642.1:c.3021_3058del
  • NM_001407644.1:c.3018_3055del
  • NM_001407645.1:c.3018_3055del
  • NM_001407646.1:c.3012_3049del
  • NM_001407647.1:c.3012_3049del
  • NM_001407648.1:c.2898_2935del
  • NM_001407649.1:c.2895_2932del
  • NM_001407652.1:c.3021_3058del
  • NM_001407653.1:c.2943_2980del
  • NM_001407654.1:c.2943_2980del
  • NM_001407655.1:c.2943_2980del
  • NM_001407656.1:c.2943_2980del
  • NM_001407657.1:c.2943_2980del
  • NM_001407658.1:c.2943_2980del
  • NM_001407659.1:c.2940_2977del
  • NM_001407660.1:c.2940_2977del
  • NM_001407661.1:c.2940_2977del
  • NM_001407662.1:c.2940_2977del
  • NM_001407663.1:c.2943_2980del
  • NM_001407664.1:c.2898_2935del
  • NM_001407665.1:c.2898_2935del
  • NM_001407666.1:c.2898_2935del
  • NM_001407667.1:c.2898_2935del
  • NM_001407668.1:c.2898_2935del
  • NM_001407669.1:c.2898_2935del
  • NM_001407670.1:c.2895_2932del
  • NM_001407671.1:c.2895_2932del
  • NM_001407672.1:c.2895_2932del
  • NM_001407673.1:c.2895_2932del
  • NM_001407674.1:c.2898_2935del
  • NM_001407675.1:c.2898_2935del
  • NM_001407676.1:c.2898_2935del
  • NM_001407677.1:c.2898_2935del
  • NM_001407678.1:c.2898_2935del
  • NM_001407679.1:c.2898_2935del
  • NM_001407680.1:c.2898_2935del
  • NM_001407681.1:c.2898_2935del
  • NM_001407682.1:c.2898_2935del
  • NM_001407683.1:c.2898_2935del
  • NM_001407684.1:c.3021_3058del
  • NM_001407685.1:c.2895_2932del
  • NM_001407686.1:c.2895_2932del
  • NM_001407687.1:c.2895_2932del
  • NM_001407688.1:c.2895_2932del
  • NM_001407689.1:c.2895_2932del
  • NM_001407690.1:c.2895_2932del
  • NM_001407691.1:c.2895_2932del
  • NM_001407692.1:c.2880_2917del
  • NM_001407694.1:c.2880_2917del
  • NM_001407695.1:c.2880_2917del
  • NM_001407696.1:c.2880_2917del
  • NM_001407697.1:c.2880_2917del
  • NM_001407698.1:c.2880_2917del
  • NM_001407724.1:c.2880_2917del
  • NM_001407725.1:c.2880_2917del
  • NM_001407726.1:c.2880_2917del
  • NM_001407727.1:c.2880_2917del
  • NM_001407728.1:c.2880_2917del
  • NM_001407729.1:c.2880_2917del
  • NM_001407730.1:c.2880_2917del
  • NM_001407731.1:c.2880_2917del
  • NM_001407732.1:c.2880_2917del
  • NM_001407733.1:c.2880_2917del
  • NM_001407734.1:c.2880_2917del
  • NM_001407735.1:c.2880_2917del
  • NM_001407736.1:c.2880_2917del
  • NM_001407737.1:c.2880_2917del
  • NM_001407738.1:c.2880_2917del
  • NM_001407739.1:c.2880_2917del
  • NM_001407740.1:c.2877_2914del
  • NM_001407741.1:c.2877_2914del
  • NM_001407742.1:c.2877_2914del
  • NM_001407743.1:c.2877_2914del
  • NM_001407744.1:c.2877_2914del
  • NM_001407745.1:c.2877_2914del
  • NM_001407746.1:c.2877_2914del
  • NM_001407747.1:c.2877_2914del
  • NM_001407748.1:c.2877_2914del
  • NM_001407749.1:c.2877_2914del
  • NM_001407750.1:c.2880_2917del
  • NM_001407751.1:c.2880_2917del
  • NM_001407752.1:c.2880_2917del
  • NM_001407838.1:c.2877_2914del
  • NM_001407839.1:c.2877_2914del
  • NM_001407841.1:c.2877_2914del
  • NM_001407842.1:c.2877_2914del
  • NM_001407843.1:c.2877_2914del
  • NM_001407844.1:c.2877_2914del
  • NM_001407845.1:c.2877_2914del
  • NM_001407846.1:c.2877_2914del
  • NM_001407847.1:c.2877_2914del
  • NM_001407848.1:c.2877_2914del
  • NM_001407849.1:c.2877_2914del
  • NM_001407850.1:c.2880_2917del
  • NM_001407851.1:c.2880_2917del
  • NM_001407852.1:c.2880_2917del
  • NM_001407853.1:c.2808_2845del
  • NM_001407854.1:c.3021_3058del
  • NM_001407858.1:c.3021_3058del
  • NM_001407859.1:c.3021_3058del
  • NM_001407860.1:c.3018_3055del
  • NM_001407861.1:c.3018_3055del
  • NM_001407862.1:c.2820_2857del
  • NM_001407863.1:c.2898_2935del
  • NM_001407874.1:c.2817_2854del
  • NM_001407875.1:c.2817_2854del
  • NM_001407879.1:c.2811_2848del
  • NM_001407881.1:c.2811_2848del
  • NM_001407882.1:c.2811_2848del
  • NM_001407884.1:c.2811_2848del
  • NM_001407885.1:c.2811_2848del
  • NM_001407886.1:c.2811_2848del
  • NM_001407887.1:c.2811_2848del
  • NM_001407889.1:c.2811_2848del
  • NM_001407894.1:c.2808_2845del
  • NM_001407895.1:c.2808_2845del
  • NM_001407896.1:c.2808_2845del
  • NM_001407897.1:c.2808_2845del
  • NM_001407898.1:c.2808_2845del
  • NM_001407899.1:c.2808_2845del
  • NM_001407900.1:c.2811_2848del
  • NM_001407902.1:c.2811_2848del
  • NM_001407904.1:c.2811_2848del
  • NM_001407906.1:c.2811_2848del
  • NM_001407907.1:c.2811_2848del
  • NM_001407908.1:c.2811_2848del
  • NM_001407909.1:c.2811_2848del
  • NM_001407910.1:c.2811_2848del
  • NM_001407915.1:c.2808_2845del
  • NM_001407916.1:c.2808_2845del
  • NM_001407917.1:c.2808_2845del
  • NM_001407918.1:c.2808_2845del
  • NM_001407919.1:c.2898_2935del
  • NM_001407920.1:c.2757_2794del
  • NM_001407921.1:c.2757_2794del
  • NM_001407922.1:c.2757_2794del
  • NM_001407923.1:c.2757_2794del
  • NM_001407924.1:c.2757_2794del
  • NM_001407925.1:c.2757_2794del
  • NM_001407926.1:c.2757_2794del
  • NM_001407927.1:c.2757_2794del
  • NM_001407928.1:c.2757_2794del
  • NM_001407929.1:c.2757_2794del
  • NM_001407930.1:c.2754_2791del
  • NM_001407931.1:c.2754_2791del
  • NM_001407932.1:c.2754_2791del
  • NM_001407933.1:c.2757_2794del
  • NM_001407934.1:c.2754_2791del
  • NM_001407935.1:c.2757_2794del
  • NM_001407936.1:c.2754_2791del
  • NM_001407937.1:c.2898_2935del
  • NM_001407938.1:c.2898_2935del
  • NM_001407939.1:c.2898_2935del
  • NM_001407940.1:c.2895_2932del
  • NM_001407941.1:c.2895_2932del
  • NM_001407942.1:c.2880_2917del
  • NM_001407943.1:c.2877_2914del
  • NM_001407944.1:c.2880_2917del
  • NM_001407945.1:c.2880_2917del
  • NM_001407946.1:c.2688_2725del
  • NM_001407947.1:c.2688_2725del
  • NM_001407948.1:c.2688_2725del
  • NM_001407949.1:c.2688_2725del
  • NM_001407950.1:c.2688_2725del
  • NM_001407951.1:c.2688_2725del
  • NM_001407952.1:c.2688_2725del
  • NM_001407953.1:c.2688_2725del
  • NM_001407954.1:c.2685_2722del
  • NM_001407955.1:c.2685_2722del
  • NM_001407956.1:c.2685_2722del
  • NM_001407957.1:c.2688_2725del
  • NM_001407958.1:c.2685_2722del
  • NM_001407959.1:c.2640_2677del
  • NM_001407960.1:c.2640_2677del
  • NM_001407962.1:c.2637_2674del
  • NM_001407963.1:c.2640_2677del
  • NM_001407964.1:c.2877_2914del
  • NM_001407965.1:c.2517_2554del
  • NM_001407966.1:c.2133_2170del
  • NM_001407967.1:c.2133_2170del
  • NM_001407968.1:c.788-371_788-334del
  • NM_001407969.1:c.788-371_788-334del
  • NM_001407970.1:c.788-1478_788-1441del
  • NM_001407971.1:c.788-1478_788-1441del
  • NM_001407972.1:c.785-1478_785-1441del
  • NM_001407973.1:c.788-1478_788-1441del
  • NM_001407974.1:c.788-1478_788-1441del
  • NM_001407975.1:c.788-1478_788-1441del
  • NM_001407976.1:c.788-1478_788-1441del
  • NM_001407977.1:c.788-1478_788-1441del
  • NM_001407978.1:c.788-1478_788-1441del
  • NM_001407979.1:c.788-1478_788-1441del
  • NM_001407980.1:c.788-1478_788-1441del
  • NM_001407981.1:c.788-1478_788-1441del
  • NM_001407982.1:c.788-1478_788-1441del
  • NM_001407983.1:c.788-1478_788-1441del
  • NM_001407984.1:c.785-1478_785-1441del
  • NM_001407985.1:c.785-1478_785-1441del
  • NM_001407986.1:c.785-1478_785-1441del
  • NM_001407990.1:c.788-1478_788-1441del
  • NM_001407991.1:c.785-1478_785-1441del
  • NM_001407992.1:c.785-1478_785-1441del
  • NM_001407993.1:c.788-1478_788-1441del
  • NM_001408392.1:c.785-1478_785-1441del
  • NM_001408396.1:c.785-1478_785-1441del
  • NM_001408397.1:c.785-1478_785-1441del
  • NM_001408398.1:c.785-1478_785-1441del
  • NM_001408399.1:c.785-1478_785-1441del
  • NM_001408400.1:c.785-1478_785-1441del
  • NM_001408401.1:c.785-1478_785-1441del
  • NM_001408402.1:c.785-1478_785-1441del
  • NM_001408403.1:c.788-1478_788-1441del
  • NM_001408404.1:c.788-1478_788-1441del
  • NM_001408406.1:c.791-1487_791-1450del
  • NM_001408407.1:c.785-1478_785-1441del
  • NM_001408408.1:c.779-1478_779-1441del
  • NM_001408409.1:c.710-1478_710-1441del
  • NM_001408410.1:c.647-1478_647-1441del
  • NM_001408411.1:c.710-1478_710-1441del
  • NM_001408412.1:c.710-1478_710-1441del
  • NM_001408413.1:c.707-1478_707-1441del
  • NM_001408414.1:c.710-1478_710-1441del
  • NM_001408415.1:c.710-1478_710-1441del
  • NM_001408416.1:c.707-1478_707-1441del
  • NM_001408418.1:c.671-1478_671-1441del
  • NM_001408419.1:c.671-1478_671-1441del
  • NM_001408420.1:c.671-1478_671-1441del
  • NM_001408421.1:c.668-1478_668-1441del
  • NM_001408422.1:c.671-1478_671-1441del
  • NM_001408423.1:c.671-1478_671-1441del
  • NM_001408424.1:c.668-1478_668-1441del
  • NM_001408425.1:c.665-1478_665-1441del
  • NM_001408426.1:c.665-1478_665-1441del
  • NM_001408427.1:c.665-1478_665-1441del
  • NM_001408428.1:c.665-1478_665-1441del
  • NM_001408429.1:c.665-1478_665-1441del
  • NM_001408430.1:c.665-1478_665-1441del
  • NM_001408431.1:c.668-1478_668-1441del
  • NM_001408432.1:c.662-1478_662-1441del
  • NM_001408433.1:c.662-1478_662-1441del
  • NM_001408434.1:c.662-1478_662-1441del
  • NM_001408435.1:c.662-1478_662-1441del
  • NM_001408436.1:c.665-1478_665-1441del
  • NM_001408437.1:c.665-1478_665-1441del
  • NM_001408438.1:c.665-1478_665-1441del
  • NM_001408439.1:c.665-1478_665-1441del
  • NM_001408440.1:c.665-1478_665-1441del
  • NM_001408441.1:c.665-1478_665-1441del
  • NM_001408442.1:c.665-1478_665-1441del
  • NM_001408443.1:c.665-1478_665-1441del
  • NM_001408444.1:c.665-1478_665-1441del
  • NM_001408445.1:c.662-1478_662-1441del
  • NM_001408446.1:c.662-1478_662-1441del
  • NM_001408447.1:c.662-1478_662-1441del
  • NM_001408448.1:c.662-1478_662-1441del
  • NM_001408450.1:c.662-1478_662-1441del
  • NM_001408451.1:c.653-1478_653-1441del
  • NM_001408452.1:c.647-1478_647-1441del
  • NM_001408453.1:c.647-1478_647-1441del
  • NM_001408454.1:c.647-1478_647-1441del
  • NM_001408455.1:c.647-1478_647-1441del
  • NM_001408456.1:c.647-1478_647-1441del
  • NM_001408457.1:c.647-1478_647-1441del
  • NM_001408458.1:c.647-1478_647-1441del
  • NM_001408459.1:c.647-1478_647-1441del
  • NM_001408460.1:c.647-1478_647-1441del
  • NM_001408461.1:c.647-1478_647-1441del
  • NM_001408462.1:c.644-1478_644-1441del
  • NM_001408463.1:c.644-1478_644-1441del
  • NM_001408464.1:c.644-1478_644-1441del
  • NM_001408465.1:c.644-1478_644-1441del
  • NM_001408466.1:c.647-1478_647-1441del
  • NM_001408467.1:c.647-1478_647-1441del
  • NM_001408468.1:c.644-1478_644-1441del
  • NM_001408469.1:c.647-1478_647-1441del
  • NM_001408470.1:c.644-1478_644-1441del
  • NM_001408472.1:c.788-1478_788-1441del
  • NM_001408473.1:c.785-1478_785-1441del
  • NM_001408474.1:c.587-1478_587-1441del
  • NM_001408475.1:c.584-1478_584-1441del
  • NM_001408476.1:c.587-1478_587-1441del
  • NM_001408478.1:c.578-1478_578-1441del
  • NM_001408479.1:c.578-1478_578-1441del
  • NM_001408480.1:c.578-1478_578-1441del
  • NM_001408481.1:c.578-1478_578-1441del
  • NM_001408482.1:c.578-1478_578-1441del
  • NM_001408483.1:c.578-1478_578-1441del
  • NM_001408484.1:c.578-1478_578-1441del
  • NM_001408485.1:c.578-1478_578-1441del
  • NM_001408489.1:c.578-1478_578-1441del
  • NM_001408490.1:c.575-1478_575-1441del
  • NM_001408491.1:c.575-1478_575-1441del
  • NM_001408492.1:c.578-1478_578-1441del
  • NM_001408493.1:c.575-1478_575-1441del
  • NM_001408494.1:c.548-1478_548-1441del
  • NM_001408495.1:c.545-1478_545-1441del
  • NM_001408496.1:c.524-1478_524-1441del
  • NM_001408497.1:c.524-1478_524-1441del
  • NM_001408498.1:c.524-1478_524-1441del
  • NM_001408499.1:c.524-1478_524-1441del
  • NM_001408500.1:c.524-1478_524-1441del
  • NM_001408501.1:c.524-1478_524-1441del
  • NM_001408502.1:c.455-1478_455-1441del
  • NM_001408503.1:c.521-1478_521-1441del
  • NM_001408504.1:c.521-1478_521-1441del
  • NM_001408505.1:c.521-1478_521-1441del
  • NM_001408506.1:c.461-1478_461-1441del
  • NM_001408507.1:c.461-1478_461-1441del
  • NM_001408508.1:c.452-1478_452-1441del
  • NM_001408509.1:c.452-1478_452-1441del
  • NM_001408510.1:c.407-1478_407-1441del
  • NM_001408511.1:c.404-1478_404-1441del
  • NM_001408512.1:c.284-1478_284-1441del
  • NM_001408513.1:c.578-1478_578-1441del
  • NM_001408514.1:c.578-1478_578-1441del
  • NM_007294.4:c.3021_3058delMANE SELECT
  • NM_007297.4:c.2880_2917del
  • NM_007298.4:c.788-1478_788-1441del
  • NM_007299.4:c.788-1478_788-1441del
  • NM_007300.4:c.3021_3058del
  • NP_001394500.1:p.Met937fs
  • NP_001394510.1:p.Met1008fs
  • NP_001394511.1:p.Met1008fs
  • NP_001394512.1:p.Met1008fs
  • NP_001394514.1:p.Met1008fs
  • NP_001394516.1:p.Met1007fs
  • NP_001394519.1:p.Met1007fs
  • NP_001394520.1:p.Met1007fs
  • NP_001394522.1:p.Met1008fs
  • NP_001394523.1:p.Met1008fs
  • NP_001394525.1:p.Met1008fs
  • NP_001394526.1:p.Met1008fs
  • NP_001394527.1:p.Met1008fs
  • NP_001394531.1:p.Met1008fs
  • NP_001394532.1:p.Met1008fs
  • NP_001394534.1:p.Met1008fs
  • NP_001394539.1:p.Met1007fs
  • NP_001394540.1:p.Met1007fs
  • NP_001394541.1:p.Met1007fs
  • NP_001394542.1:p.Met1007fs
  • NP_001394543.1:p.Met1007fs
  • NP_001394544.1:p.Met1007fs
  • NP_001394545.1:p.Met1008fs
  • NP_001394546.1:p.Met1008fs
  • NP_001394547.1:p.Met1008fs
  • NP_001394548.1:p.Met1008fs
  • NP_001394549.1:p.Met1008fs
  • NP_001394550.1:p.Met1008fs
  • NP_001394551.1:p.Met1008fs
  • NP_001394552.1:p.Met1008fs
  • NP_001394553.1:p.Met1008fs
  • NP_001394554.1:p.Met1008fs
  • NP_001394555.1:p.Met1008fs
  • NP_001394556.1:p.Met1007fs
  • NP_001394557.1:p.Met1007fs
  • NP_001394558.1:p.Met1007fs
  • NP_001394559.1:p.Met1007fs
  • NP_001394560.1:p.Met1007fs
  • NP_001394561.1:p.Met1007fs
  • NP_001394562.1:p.Met1007fs
  • NP_001394563.1:p.Met1007fs
  • NP_001394564.1:p.Met1007fs
  • NP_001394565.1:p.Met1007fs
  • NP_001394566.1:p.Met1007fs
  • NP_001394567.1:p.Met1007fs
  • NP_001394568.1:p.Met1008fs
  • NP_001394569.1:p.Met1008fs
  • NP_001394570.1:p.Met1008fs
  • NP_001394571.1:p.Met1008fs
  • NP_001394573.1:p.Met1007fs
  • NP_001394574.1:p.Met1007fs
  • NP_001394575.1:p.Met1005fs
  • NP_001394576.1:p.Met1005fs
  • NP_001394577.1:p.Met967fs
  • NP_001394578.1:p.Met966fs
  • NP_001394581.1:p.Met1008fs
  • NP_001394582.1:p.Met982fs
  • NP_001394583.1:p.Met982fs
  • NP_001394584.1:p.Met982fs
  • NP_001394585.1:p.Met982fs
  • NP_001394586.1:p.Met982fs
  • NP_001394587.1:p.Met982fs
  • NP_001394588.1:p.Met981fs
  • NP_001394589.1:p.Met981fs
  • NP_001394590.1:p.Met981fs
  • NP_001394591.1:p.Met981fs
  • NP_001394592.1:p.Met982fs
  • NP_001394593.1:p.Met967fs
  • NP_001394594.1:p.Met967fs
  • NP_001394595.1:p.Met967fs
  • NP_001394596.1:p.Met967fs
  • NP_001394597.1:p.Met967fs
  • NP_001394598.1:p.Met967fs
  • NP_001394599.1:p.Met966fs
  • NP_001394600.1:p.Met966fs
  • NP_001394601.1:p.Met966fs
  • NP_001394602.1:p.Met966fs
  • NP_001394603.1:p.Met967fs
  • NP_001394604.1:p.Met967fs
  • NP_001394605.1:p.Met967fs
  • NP_001394606.1:p.Met967fs
  • NP_001394607.1:p.Met967fs
  • NP_001394608.1:p.Met967fs
  • NP_001394609.1:p.Met967fs
  • NP_001394610.1:p.Met967fs
  • NP_001394611.1:p.Met967fs
  • NP_001394612.1:p.Met967fs
  • NP_001394613.1:p.Met1008fs
  • NP_001394614.1:p.Met966fs
  • NP_001394615.1:p.Met966fs
  • NP_001394616.1:p.Met966fs
  • NP_001394617.1:p.Met966fs
  • NP_001394618.1:p.Met966fs
  • NP_001394619.1:p.Met966fs
  • NP_001394620.1:p.Met966fs
  • NP_001394621.1:p.Met961fs
  • NP_001394623.1:p.Met961fs
  • NP_001394624.1:p.Met961fs
  • NP_001394625.1:p.Met961fs
  • NP_001394626.1:p.Met961fs
  • NP_001394627.1:p.Met961fs
  • NP_001394653.1:p.Met961fs
  • NP_001394654.1:p.Met961fs
  • NP_001394655.1:p.Met961fs
  • NP_001394656.1:p.Met961fs
  • NP_001394657.1:p.Met961fs
  • NP_001394658.1:p.Met961fs
  • NP_001394659.1:p.Met961fs
  • NP_001394660.1:p.Met961fs
  • NP_001394661.1:p.Met961fs
  • NP_001394662.1:p.Met961fs
  • NP_001394663.1:p.Met961fs
  • NP_001394664.1:p.Met961fs
  • NP_001394665.1:p.Met961fs
  • NP_001394666.1:p.Met961fs
  • NP_001394667.1:p.Met961fs
  • NP_001394668.1:p.Met961fs
  • NP_001394669.1:p.Met960fs
  • NP_001394670.1:p.Met960fs
  • NP_001394671.1:p.Met960fs
  • NP_001394672.1:p.Met960fs
  • NP_001394673.1:p.Met960fs
  • NP_001394674.1:p.Met960fs
  • NP_001394675.1:p.Met960fs
  • NP_001394676.1:p.Met960fs
  • NP_001394677.1:p.Met960fs
  • NP_001394678.1:p.Met960fs
  • NP_001394679.1:p.Met961fs
  • NP_001394680.1:p.Met961fs
  • NP_001394681.1:p.Met961fs
  • NP_001394767.1:p.Met960fs
  • NP_001394768.1:p.Met960fs
  • NP_001394770.1:p.Met960fs
  • NP_001394771.1:p.Met960fs
  • NP_001394772.1:p.Met960fs
  • NP_001394773.1:p.Met960fs
  • NP_001394774.1:p.Met960fs
  • NP_001394775.1:p.Met960fs
  • NP_001394776.1:p.Met960fs
  • NP_001394777.1:p.Met960fs
  • NP_001394778.1:p.Met960fs
  • NP_001394779.1:p.Met961fs
  • NP_001394780.1:p.Met961fs
  • NP_001394781.1:p.Met961fs
  • NP_001394782.1:p.Met937fs
  • NP_001394783.1:p.Met1008fs
  • NP_001394787.1:p.Met1008fs
  • NP_001394788.1:p.Met1008fs
  • NP_001394789.1:p.Met1007fs
  • NP_001394790.1:p.Met1007fs
  • NP_001394791.1:p.Met941fs
  • NP_001394792.1:p.Met967fs
  • NP_001394803.1:p.Met940fs
  • NP_001394804.1:p.Met940fs
  • NP_001394808.1:p.Met938fs
  • NP_001394810.1:p.Met938fs
  • NP_001394811.1:p.Met938fs
  • NP_001394813.1:p.Met938fs
  • NP_001394814.1:p.Met938fs
  • NP_001394815.1:p.Met938fs
  • NP_001394816.1:p.Met938fs
  • NP_001394818.1:p.Met938fs
  • NP_001394823.1:p.Met937fs
  • NP_001394824.1:p.Met937fs
  • NP_001394825.1:p.Met937fs
  • NP_001394826.1:p.Met937fs
  • NP_001394827.1:p.Met937fs
  • NP_001394828.1:p.Met937fs
  • NP_001394829.1:p.Met938fs
  • NP_001394831.1:p.Met938fs
  • NP_001394833.1:p.Met938fs
  • NP_001394835.1:p.Met938fs
  • NP_001394836.1:p.Met938fs
  • NP_001394837.1:p.Met938fs
  • NP_001394838.1:p.Met938fs
  • NP_001394839.1:p.Met938fs
  • NP_001394844.1:p.Met937fs
  • NP_001394845.1:p.Met937fs
  • NP_001394846.1:p.Met937fs
  • NP_001394847.1:p.Met937fs
  • NP_001394848.1:p.Met967fs
  • NP_001394849.1:p.Met920fs
  • NP_001394850.1:p.Met920fs
  • NP_001394851.1:p.Met920fs
  • NP_001394852.1:p.Met920fs
  • NP_001394853.1:p.Met920fs
  • NP_001394854.1:p.Met920fs
  • NP_001394855.1:p.Met920fs
  • NP_001394856.1:p.Met920fs
  • NP_001394857.1:p.Met920fs
  • NP_001394858.1:p.Met920fs
  • NP_001394859.1:p.Met919fs
  • NP_001394860.1:p.Met919fs
  • NP_001394861.1:p.Met919fs
  • NP_001394862.1:p.Met920fs
  • NP_001394863.1:p.Met919fs
  • NP_001394864.1:p.Met920fs
  • NP_001394865.1:p.Met919fs
  • NP_001394866.1:p.Met967fs
  • NP_001394867.1:p.Met967fs
  • NP_001394868.1:p.Met967fs
  • NP_001394869.1:p.Met966fs
  • NP_001394870.1:p.Met966fs
  • NP_001394871.1:p.Met961fs
  • NP_001394872.1:p.Met960fs
  • NP_001394873.1:p.Met961fs
  • NP_001394874.1:p.Met961fs
  • NP_001394875.1:p.Met897fs
  • NP_001394876.1:p.Met897fs
  • NP_001394877.1:p.Met897fs
  • NP_001394878.1:p.Met897fs
  • NP_001394879.1:p.Met897fs
  • NP_001394880.1:p.Met897fs
  • NP_001394881.1:p.Met897fs
  • NP_001394882.1:p.Met897fs
  • NP_001394883.1:p.Met896fs
  • NP_001394884.1:p.Met896fs
  • NP_001394885.1:p.Met896fs
  • NP_001394886.1:p.Met897fs
  • NP_001394887.1:p.Met896fs
  • NP_001394888.1:p.Met881fs
  • NP_001394889.1:p.Met881fs
  • NP_001394891.1:p.Met880fs
  • NP_001394892.1:p.Met881fs
  • NP_001394893.1:p.Met960fs
  • NP_001394894.1:p.Met840fs
  • NP_001394895.1:p.Met712fs
  • NP_001394896.1:p.Met712fs
  • NP_009225.1:p.Met1008Lysfs
  • NP_009225.1:p.Met1008fs
  • NP_009228.2:p.Met961fs
  • NP_009231.2:p.Met1008fs
  • LRG_292t1:c.3013_3050del38
  • LRG_292:g.125474_125511del
  • LRG_292p1:p.Met1008Lysfs
  • NC_000017.10:g.41244490_41244527del
  • NC_000017.10:g.41244498_41244535del
  • NM_007294.3:c.3013_3050del38
  • NR_027676.2:n.3190_3227del38
Protein change:
M1005fs
Molecular consequence:
  • NM_001407571.1:c.2808_2845del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.3018_3055del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.3018_3055del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.3018_3055del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.3018_3055del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.3018_3055del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.3018_3055del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.3018_3055del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.3018_3055del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.3018_3055del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.3018_3055del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.3018_3055del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.3018_3055del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.3018_3055del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.3018_3055del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.3018_3055del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.3018_3055del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.3018_3055del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.3018_3055del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.3018_3055del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.3018_3055del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.3018_3055del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.3018_3055del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.3018_3055del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.3012_3049del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.3012_3049del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.2898_2935del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.2895_2932del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.2943_2980del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.2943_2980del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.2943_2980del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.2943_2980del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.2943_2980del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.2943_2980del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.2940_2977del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.2940_2977del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.2940_2977del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.2940_2977del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.2943_2980del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.2898_2935del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.2898_2935del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.2898_2935del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.2898_2935del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.2898_2935del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.2898_2935del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.2895_2932del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.2895_2932del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.2895_2932del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.2895_2932del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.2898_2935del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.2898_2935del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.2898_2935del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.2898_2935del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.2898_2935del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.2898_2935del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.2898_2935del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.2898_2935del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.2898_2935del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.2898_2935del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.2895_2932del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.2895_2932del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.2895_2932del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.2895_2932del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.2895_2932del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.2895_2932del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.2895_2932del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.2877_2914del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.2877_2914del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.2877_2914del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.2877_2914del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.2877_2914del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.2877_2914del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.2877_2914del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.2877_2914del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.2877_2914del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.2877_2914del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.2877_2914del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.2877_2914del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.2877_2914del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.2877_2914del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.2877_2914del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.2877_2914del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.2877_2914del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.2877_2914del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.2877_2914del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.2877_2914del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.2877_2914del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.2808_2845del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.3018_3055del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.3018_3055del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.2820_2857del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.2898_2935del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.2817_2854del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.2817_2854del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.2811_2848del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.2811_2848del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.2811_2848del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.2811_2848del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.2811_2848del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.2811_2848del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.2811_2848del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.2811_2848del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.2808_2845del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.2808_2845del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.2808_2845del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.2808_2845del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.2808_2845del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.2808_2845del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.2811_2848del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.2811_2848del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.2811_2848del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.2811_2848del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.2811_2848del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.2811_2848del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.2811_2848del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.2811_2848del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.2808_2845del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.2808_2845del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.2808_2845del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.2808_2845del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.2898_2935del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.2757_2794del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.2757_2794del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.2757_2794del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.2757_2794del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.2757_2794del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.2757_2794del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.2757_2794del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.2757_2794del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.2757_2794del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.2757_2794del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.2754_2791del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.2754_2791del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.2754_2791del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.2757_2794del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.2754_2791del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.2757_2794del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.2754_2791del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.2898_2935del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.2898_2935del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.2898_2935del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.2895_2932del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.2895_2932del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.2877_2914del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.2688_2725del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.2688_2725del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.2688_2725del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.2688_2725del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.2688_2725del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.2688_2725del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.2688_2725del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.2688_2725del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.2685_2722del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.2685_2722del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.2685_2722del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.2688_2725del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.2685_2722del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.2640_2677del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.2640_2677del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.2637_2674del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.2640_2677del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.2877_2914del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.2517_2554del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.2133_2170del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.2133_2170del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.2880_2917del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.3021_3058del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.788-371_788-334del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-371_788-334del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1478_788-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1478_788-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1478_785-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1478_788-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1478_788-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1478_788-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1478_788-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1478_788-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1478_788-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1478_788-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1478_788-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1478_788-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1478_788-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1478_788-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1478_785-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1478_785-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1478_785-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1478_788-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1478_785-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1478_785-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1478_788-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1478_785-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1478_785-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1478_785-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1478_785-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1478_785-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1478_785-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1478_785-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1478_785-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1478_788-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1478_788-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1487_791-1450del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1478_785-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1478_779-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1478_710-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1478_647-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1478_710-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1478_710-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1478_707-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1478_710-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1478_710-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1478_707-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1478_671-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1478_671-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1478_671-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1478_668-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1478_671-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1478_671-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1478_668-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1478_665-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1478_665-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1478_665-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1478_665-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1478_665-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1478_665-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1478_668-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1478_662-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1478_662-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1478_662-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1478_662-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1478_665-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1478_665-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1478_665-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1478_665-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1478_665-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1478_665-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1478_665-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1478_665-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1478_665-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1478_662-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1478_662-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1478_662-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1478_662-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1478_662-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1478_653-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1478_647-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1478_647-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1478_647-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1478_647-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1478_647-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1478_647-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1478_647-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1478_647-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1478_647-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1478_647-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1478_644-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1478_644-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1478_644-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1478_644-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1478_647-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1478_647-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1478_644-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1478_647-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1478_644-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1478_788-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1478_785-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1478_587-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1478_584-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1478_587-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1478_578-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1478_578-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1478_578-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1478_578-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1478_578-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1478_578-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1478_578-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1478_578-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1478_578-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1478_575-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1478_575-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1478_578-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1478_575-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1478_548-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1478_545-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1478_524-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1478_524-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1478_524-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1478_524-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1478_524-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1478_524-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1478_455-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1478_521-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1478_521-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1478_521-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1478_461-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1478_461-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1478_452-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1478_452-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1478_407-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1478_404-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1478_284-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1478_578-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1478_578-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1478_788-1441del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1478_788-1441del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004461684Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(May 5, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

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

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

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

PubMed [citation]
PMID:
20104584
PMCID:
PMC2928257

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004461684.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change creates a premature translational stop signal (p.Met1008Lysfs*7) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BRCA1-related conditions.

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

Last Updated: Sep 29, 2024