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NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jan 27, 2024
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:
RCV000496722.13

Allele description

NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs)

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.3018_3021del (p.His1006fs)
Other names:
3137del4; 3137delTTCA; 3135del4
HGVS:
  • NC_000017.10:g.41244527_41244530del
  • NC_000017.11:g.43092512_43092515del
  • NG_005905.2:g.125471_125474del
  • NM_001407571.1:c.2805_2808del
  • NM_001407581.1:c.3018_3021del
  • NM_001407582.1:c.3018_3021del
  • NM_001407583.1:c.3018_3021del
  • NM_001407585.1:c.3018_3021del
  • NM_001407587.1:c.3015_3018del
  • NM_001407590.1:c.3015_3018del
  • NM_001407591.1:c.3015_3018del
  • NM_001407593.1:c.3018_3021del
  • NM_001407594.1:c.3018_3021del
  • NM_001407596.1:c.3018_3021del
  • NM_001407597.1:c.3018_3021del
  • NM_001407598.1:c.3018_3021del
  • NM_001407602.1:c.3018_3021del
  • NM_001407603.1:c.3018_3021del
  • NM_001407605.1:c.3018_3021del
  • NM_001407610.1:c.3015_3018del
  • NM_001407611.1:c.3015_3018del
  • NM_001407612.1:c.3015_3018del
  • NM_001407613.1:c.3015_3018del
  • NM_001407614.1:c.3015_3018del
  • NM_001407615.1:c.3015_3018del
  • NM_001407616.1:c.3018_3021del
  • NM_001407617.1:c.3018_3021del
  • NM_001407618.1:c.3018_3021del
  • NM_001407619.1:c.3018_3021del
  • NM_001407620.1:c.3018_3021del
  • NM_001407621.1:c.3018_3021del
  • NM_001407622.1:c.3018_3021del
  • NM_001407623.1:c.3018_3021del
  • NM_001407624.1:c.3018_3021del
  • NM_001407625.1:c.3018_3021del
  • NM_001407626.1:c.3018_3021del
  • NM_001407627.1:c.3015_3018del
  • NM_001407628.1:c.3015_3018del
  • NM_001407629.1:c.3015_3018del
  • NM_001407630.1:c.3015_3018del
  • NM_001407631.1:c.3015_3018del
  • NM_001407632.1:c.3015_3018del
  • NM_001407633.1:c.3015_3018del
  • NM_001407634.1:c.3015_3018del
  • NM_001407635.1:c.3015_3018del
  • NM_001407636.1:c.3015_3018del
  • NM_001407637.1:c.3015_3018del
  • NM_001407638.1:c.3015_3018del
  • NM_001407639.1:c.3018_3021del
  • NM_001407640.1:c.3018_3021del
  • NM_001407641.1:c.3018_3021del
  • NM_001407642.1:c.3018_3021del
  • NM_001407644.1:c.3015_3018del
  • NM_001407645.1:c.3015_3018del
  • NM_001407646.1:c.3009_3012del
  • NM_001407647.1:c.3009_3012del
  • NM_001407648.1:c.2895_2898del
  • NM_001407649.1:c.2892_2895del
  • NM_001407652.1:c.3018_3021del
  • NM_001407653.1:c.2940_2943del
  • NM_001407654.1:c.2940_2943del
  • NM_001407655.1:c.2940_2943del
  • NM_001407656.1:c.2940_2943del
  • NM_001407657.1:c.2940_2943del
  • NM_001407658.1:c.2940_2943del
  • NM_001407659.1:c.2937_2940del
  • NM_001407660.1:c.2937_2940del
  • NM_001407661.1:c.2937_2940del
  • NM_001407662.1:c.2937_2940del
  • NM_001407663.1:c.2940_2943del
  • NM_001407664.1:c.2895_2898del
  • NM_001407665.1:c.2895_2898del
  • NM_001407666.1:c.2895_2898del
  • NM_001407667.1:c.2895_2898del
  • NM_001407668.1:c.2895_2898del
  • NM_001407669.1:c.2895_2898del
  • NM_001407670.1:c.2892_2895del
  • NM_001407671.1:c.2892_2895del
  • NM_001407672.1:c.2892_2895del
  • NM_001407673.1:c.2892_2895del
  • NM_001407674.1:c.2895_2898del
  • NM_001407675.1:c.2895_2898del
  • NM_001407676.1:c.2895_2898del
  • NM_001407677.1:c.2895_2898del
  • NM_001407678.1:c.2895_2898del
  • NM_001407679.1:c.2895_2898del
  • NM_001407680.1:c.2895_2898del
  • NM_001407681.1:c.2895_2898del
  • NM_001407682.1:c.2895_2898del
  • NM_001407683.1:c.2895_2898del
  • NM_001407684.1:c.3018_3021del
  • NM_001407685.1:c.2892_2895del
  • NM_001407686.1:c.2892_2895del
  • NM_001407687.1:c.2892_2895del
  • NM_001407688.1:c.2892_2895del
  • NM_001407689.1:c.2892_2895del
  • NM_001407690.1:c.2892_2895del
  • NM_001407691.1:c.2892_2895del
  • NM_001407692.1:c.2877_2880del
  • NM_001407694.1:c.2877_2880del
  • NM_001407695.1:c.2877_2880del
  • NM_001407696.1:c.2877_2880del
  • NM_001407697.1:c.2877_2880del
  • NM_001407698.1:c.2877_2880del
  • NM_001407724.1:c.2877_2880del
  • NM_001407725.1:c.2877_2880del
  • NM_001407726.1:c.2877_2880del
  • NM_001407727.1:c.2877_2880del
  • NM_001407728.1:c.2877_2880del
  • NM_001407729.1:c.2877_2880del
  • NM_001407730.1:c.2877_2880del
  • NM_001407731.1:c.2877_2880del
  • NM_001407732.1:c.2877_2880del
  • NM_001407733.1:c.2877_2880del
  • NM_001407734.1:c.2877_2880del
  • NM_001407735.1:c.2877_2880del
  • NM_001407736.1:c.2877_2880del
  • NM_001407737.1:c.2877_2880del
  • NM_001407738.1:c.2877_2880del
  • NM_001407739.1:c.2877_2880del
  • NM_001407740.1:c.2874_2877del
  • NM_001407741.1:c.2874_2877del
  • NM_001407742.1:c.2874_2877del
  • NM_001407743.1:c.2874_2877del
  • NM_001407744.1:c.2874_2877del
  • NM_001407745.1:c.2874_2877del
  • NM_001407746.1:c.2874_2877del
  • NM_001407747.1:c.2874_2877del
  • NM_001407748.1:c.2874_2877del
  • NM_001407749.1:c.2874_2877del
  • NM_001407750.1:c.2877_2880del
  • NM_001407751.1:c.2877_2880del
  • NM_001407752.1:c.2877_2880del
  • NM_001407838.1:c.2874_2877del
  • NM_001407839.1:c.2874_2877del
  • NM_001407841.1:c.2874_2877del
  • NM_001407842.1:c.2874_2877del
  • NM_001407843.1:c.2874_2877del
  • NM_001407844.1:c.2874_2877del
  • NM_001407845.1:c.2874_2877del
  • NM_001407846.1:c.2874_2877del
  • NM_001407847.1:c.2874_2877del
  • NM_001407848.1:c.2874_2877del
  • NM_001407849.1:c.2874_2877del
  • NM_001407850.1:c.2877_2880del
  • NM_001407851.1:c.2877_2880del
  • NM_001407852.1:c.2877_2880del
  • NM_001407853.1:c.2805_2808del
  • NM_001407854.1:c.3018_3021del
  • NM_001407858.1:c.3018_3021del
  • NM_001407859.1:c.3018_3021del
  • NM_001407860.1:c.3015_3018del
  • NM_001407861.1:c.3015_3018del
  • NM_001407862.1:c.2817_2820del
  • NM_001407863.1:c.2895_2898del
  • NM_001407874.1:c.2814_2817del
  • NM_001407875.1:c.2814_2817del
  • NM_001407879.1:c.2808_2811del
  • NM_001407881.1:c.2808_2811del
  • NM_001407882.1:c.2808_2811del
  • NM_001407884.1:c.2808_2811del
  • NM_001407885.1:c.2808_2811del
  • NM_001407886.1:c.2808_2811del
  • NM_001407887.1:c.2808_2811del
  • NM_001407889.1:c.2808_2811del
  • NM_001407894.1:c.2805_2808del
  • NM_001407895.1:c.2805_2808del
  • NM_001407896.1:c.2805_2808del
  • NM_001407897.1:c.2805_2808del
  • NM_001407898.1:c.2805_2808del
  • NM_001407899.1:c.2805_2808del
  • NM_001407900.1:c.2808_2811del
  • NM_001407902.1:c.2808_2811del
  • NM_001407904.1:c.2808_2811del
  • NM_001407906.1:c.2808_2811del
  • NM_001407907.1:c.2808_2811del
  • NM_001407908.1:c.2808_2811del
  • NM_001407909.1:c.2808_2811del
  • NM_001407910.1:c.2808_2811del
  • NM_001407915.1:c.2805_2808del
  • NM_001407916.1:c.2805_2808del
  • NM_001407917.1:c.2805_2808del
  • NM_001407918.1:c.2805_2808del
  • NM_001407919.1:c.2895_2898del
  • NM_001407920.1:c.2754_2757del
  • NM_001407921.1:c.2754_2757del
  • NM_001407922.1:c.2754_2757del
  • NM_001407923.1:c.2754_2757del
  • NM_001407924.1:c.2754_2757del
  • NM_001407925.1:c.2754_2757del
  • NM_001407926.1:c.2754_2757del
  • NM_001407927.1:c.2754_2757del
  • NM_001407928.1:c.2754_2757del
  • NM_001407929.1:c.2754_2757del
  • NM_001407930.1:c.2751_2754del
  • NM_001407931.1:c.2751_2754del
  • NM_001407932.1:c.2751_2754del
  • NM_001407933.1:c.2754_2757del
  • NM_001407934.1:c.2751_2754del
  • NM_001407935.1:c.2754_2757del
  • NM_001407936.1:c.2751_2754del
  • NM_001407937.1:c.2895_2898del
  • NM_001407938.1:c.2895_2898del
  • NM_001407939.1:c.2895_2898del
  • NM_001407940.1:c.2892_2895del
  • NM_001407941.1:c.2892_2895del
  • NM_001407942.1:c.2877_2880del
  • NM_001407943.1:c.2874_2877del
  • NM_001407944.1:c.2877_2880del
  • NM_001407945.1:c.2877_2880del
  • NM_001407946.1:c.2685_2688del
  • NM_001407947.1:c.2685_2688del
  • NM_001407948.1:c.2685_2688del
  • NM_001407949.1:c.2685_2688del
  • NM_001407950.1:c.2685_2688del
  • NM_001407951.1:c.2685_2688del
  • NM_001407952.1:c.2685_2688del
  • NM_001407953.1:c.2685_2688del
  • NM_001407954.1:c.2682_2685del
  • NM_001407955.1:c.2682_2685del
  • NM_001407956.1:c.2682_2685del
  • NM_001407957.1:c.2685_2688del
  • NM_001407958.1:c.2682_2685del
  • NM_001407959.1:c.2637_2640del
  • NM_001407960.1:c.2637_2640del
  • NM_001407962.1:c.2634_2637del
  • NM_001407963.1:c.2637_2640del
  • NM_001407964.1:c.2874_2877del
  • NM_001407965.1:c.2514_2517del
  • NM_001407966.1:c.2130_2133del
  • NM_001407967.1:c.2130_2133del
  • NM_001407968.1:c.788-374_788-371del
  • NM_001407969.1:c.788-374_788-371del
  • NM_001407970.1:c.788-1481_788-1478del
  • NM_001407971.1:c.788-1481_788-1478del
  • NM_001407972.1:c.785-1481_785-1478del
  • NM_001407973.1:c.788-1481_788-1478del
  • NM_001407974.1:c.788-1481_788-1478del
  • NM_001407975.1:c.788-1481_788-1478del
  • NM_001407976.1:c.788-1481_788-1478del
  • NM_001407977.1:c.788-1481_788-1478del
  • NM_001407978.1:c.788-1481_788-1478del
  • NM_001407979.1:c.788-1481_788-1478del
  • NM_001407980.1:c.788-1481_788-1478del
  • NM_001407981.1:c.788-1481_788-1478del
  • NM_001407982.1:c.788-1481_788-1478del
  • NM_001407983.1:c.788-1481_788-1478del
  • NM_001407984.1:c.785-1481_785-1478del
  • NM_001407985.1:c.785-1481_785-1478del
  • NM_001407986.1:c.785-1481_785-1478del
  • NM_001407990.1:c.788-1481_788-1478del
  • NM_001407991.1:c.785-1481_785-1478del
  • NM_001407992.1:c.785-1481_785-1478del
  • NM_001407993.1:c.788-1481_788-1478del
  • NM_001408392.1:c.785-1481_785-1478del
  • NM_001408396.1:c.785-1481_785-1478del
  • NM_001408397.1:c.785-1481_785-1478del
  • NM_001408398.1:c.785-1481_785-1478del
  • NM_001408399.1:c.785-1481_785-1478del
  • NM_001408400.1:c.785-1481_785-1478del
  • NM_001408401.1:c.785-1481_785-1478del
  • NM_001408402.1:c.785-1481_785-1478del
  • NM_001408403.1:c.788-1481_788-1478del
  • NM_001408404.1:c.788-1481_788-1478del
  • NM_001408406.1:c.791-1490_791-1487del
  • NM_001408407.1:c.785-1481_785-1478del
  • NM_001408408.1:c.779-1481_779-1478del
  • NM_001408409.1:c.710-1481_710-1478del
  • NM_001408410.1:c.647-1481_647-1478del
  • NM_001408411.1:c.710-1481_710-1478del
  • NM_001408412.1:c.710-1481_710-1478del
  • NM_001408413.1:c.707-1481_707-1478del
  • NM_001408414.1:c.710-1481_710-1478del
  • NM_001408415.1:c.710-1481_710-1478del
  • NM_001408416.1:c.707-1481_707-1478del
  • NM_001408418.1:c.671-1481_671-1478del
  • NM_001408419.1:c.671-1481_671-1478del
  • NM_001408420.1:c.671-1481_671-1478del
  • NM_001408421.1:c.668-1481_668-1478del
  • NM_001408422.1:c.671-1481_671-1478del
  • NM_001408423.1:c.671-1481_671-1478del
  • NM_001408424.1:c.668-1481_668-1478del
  • NM_001408425.1:c.665-1481_665-1478del
  • NM_001408426.1:c.665-1481_665-1478del
  • NM_001408427.1:c.665-1481_665-1478del
  • NM_001408428.1:c.665-1481_665-1478del
  • NM_001408429.1:c.665-1481_665-1478del
  • NM_001408430.1:c.665-1481_665-1478del
  • NM_001408431.1:c.668-1481_668-1478del
  • NM_001408432.1:c.662-1481_662-1478del
  • NM_001408433.1:c.662-1481_662-1478del
  • NM_001408434.1:c.662-1481_662-1478del
  • NM_001408435.1:c.662-1481_662-1478del
  • NM_001408436.1:c.665-1481_665-1478del
  • NM_001408437.1:c.665-1481_665-1478del
  • NM_001408438.1:c.665-1481_665-1478del
  • NM_001408439.1:c.665-1481_665-1478del
  • NM_001408440.1:c.665-1481_665-1478del
  • NM_001408441.1:c.665-1481_665-1478del
  • NM_001408442.1:c.665-1481_665-1478del
  • NM_001408443.1:c.665-1481_665-1478del
  • NM_001408444.1:c.665-1481_665-1478del
  • NM_001408445.1:c.662-1481_662-1478del
  • NM_001408446.1:c.662-1481_662-1478del
  • NM_001408447.1:c.662-1481_662-1478del
  • NM_001408448.1:c.662-1481_662-1478del
  • NM_001408450.1:c.662-1481_662-1478del
  • NM_001408451.1:c.653-1481_653-1478del
  • NM_001408452.1:c.647-1481_647-1478del
  • NM_001408453.1:c.647-1481_647-1478del
  • NM_001408454.1:c.647-1481_647-1478del
  • NM_001408455.1:c.647-1481_647-1478del
  • NM_001408456.1:c.647-1481_647-1478del
  • NM_001408457.1:c.647-1481_647-1478del
  • NM_001408458.1:c.647-1481_647-1478del
  • NM_001408459.1:c.647-1481_647-1478del
  • NM_001408460.1:c.647-1481_647-1478del
  • NM_001408461.1:c.647-1481_647-1478del
  • NM_001408462.1:c.644-1481_644-1478del
  • NM_001408463.1:c.644-1481_644-1478del
  • NM_001408464.1:c.644-1481_644-1478del
  • NM_001408465.1:c.644-1481_644-1478del
  • NM_001408466.1:c.647-1481_647-1478del
  • NM_001408467.1:c.647-1481_647-1478del
  • NM_001408468.1:c.644-1481_644-1478del
  • NM_001408469.1:c.647-1481_647-1478del
  • NM_001408470.1:c.644-1481_644-1478del
  • NM_001408472.1:c.788-1481_788-1478del
  • NM_001408473.1:c.785-1481_785-1478del
  • NM_001408474.1:c.587-1481_587-1478del
  • NM_001408475.1:c.584-1481_584-1478del
  • NM_001408476.1:c.587-1481_587-1478del
  • NM_001408478.1:c.578-1481_578-1478del
  • NM_001408479.1:c.578-1481_578-1478del
  • NM_001408480.1:c.578-1481_578-1478del
  • NM_001408481.1:c.578-1481_578-1478del
  • NM_001408482.1:c.578-1481_578-1478del
  • NM_001408483.1:c.578-1481_578-1478del
  • NM_001408484.1:c.578-1481_578-1478del
  • NM_001408485.1:c.578-1481_578-1478del
  • NM_001408489.1:c.578-1481_578-1478del
  • NM_001408490.1:c.575-1481_575-1478del
  • NM_001408491.1:c.575-1481_575-1478del
  • NM_001408492.1:c.578-1481_578-1478del
  • NM_001408493.1:c.575-1481_575-1478del
  • NM_001408494.1:c.548-1481_548-1478del
  • NM_001408495.1:c.545-1481_545-1478del
  • NM_001408496.1:c.524-1481_524-1478del
  • NM_001408497.1:c.524-1481_524-1478del
  • NM_001408498.1:c.524-1481_524-1478del
  • NM_001408499.1:c.524-1481_524-1478del
  • NM_001408500.1:c.524-1481_524-1478del
  • NM_001408501.1:c.524-1481_524-1478del
  • NM_001408502.1:c.455-1481_455-1478del
  • NM_001408503.1:c.521-1481_521-1478del
  • NM_001408504.1:c.521-1481_521-1478del
  • NM_001408505.1:c.521-1481_521-1478del
  • NM_001408506.1:c.461-1481_461-1478del
  • NM_001408507.1:c.461-1481_461-1478del
  • NM_001408508.1:c.452-1481_452-1478del
  • NM_001408509.1:c.452-1481_452-1478del
  • NM_001408510.1:c.407-1481_407-1478del
  • NM_001408511.1:c.404-1481_404-1478del
  • NM_001408512.1:c.284-1481_284-1478del
  • NM_001408513.1:c.578-1481_578-1478del
  • NM_001408514.1:c.578-1481_578-1478del
  • NM_007294.4:c.3018_3021delMANE SELECT
  • NM_007297.4:c.2877_2880del
  • NM_007298.4:c.788-1481_788-1478del
  • NM_007299.4:c.788-1481_788-1478del
  • NM_007300.4:c.3018_3021del
  • NP_001394500.1:p.His935fs
  • NP_001394510.1:p.His1006fs
  • NP_001394511.1:p.His1006fs
  • NP_001394512.1:p.His1006fs
  • NP_001394514.1:p.His1006fs
  • NP_001394516.1:p.His1005fs
  • NP_001394519.1:p.His1005fs
  • NP_001394520.1:p.His1005fs
  • NP_001394522.1:p.His1006fs
  • NP_001394523.1:p.His1006fs
  • NP_001394525.1:p.His1006fs
  • NP_001394526.1:p.His1006fs
  • NP_001394527.1:p.His1006fs
  • NP_001394531.1:p.His1006fs
  • NP_001394532.1:p.His1006fs
  • NP_001394534.1:p.His1006fs
  • NP_001394539.1:p.His1005fs
  • NP_001394540.1:p.His1005fs
  • NP_001394541.1:p.His1005fs
  • NP_001394542.1:p.His1005fs
  • NP_001394543.1:p.His1005fs
  • NP_001394544.1:p.His1005fs
  • NP_001394545.1:p.His1006fs
  • NP_001394546.1:p.His1006fs
  • NP_001394547.1:p.His1006fs
  • NP_001394548.1:p.His1006fs
  • NP_001394549.1:p.His1006fs
  • NP_001394550.1:p.His1006fs
  • NP_001394551.1:p.His1006fs
  • NP_001394552.1:p.His1006fs
  • NP_001394553.1:p.His1006fs
  • NP_001394554.1:p.His1006fs
  • NP_001394555.1:p.His1006fs
  • NP_001394556.1:p.His1005fs
  • NP_001394557.1:p.His1005fs
  • NP_001394558.1:p.His1005fs
  • NP_001394559.1:p.His1005fs
  • NP_001394560.1:p.His1005fs
  • NP_001394561.1:p.His1005fs
  • NP_001394562.1:p.His1005fs
  • NP_001394563.1:p.His1005fs
  • NP_001394564.1:p.His1005fs
  • NP_001394565.1:p.His1005fs
  • NP_001394566.1:p.His1005fs
  • NP_001394567.1:p.His1005fs
  • NP_001394568.1:p.His1006fs
  • NP_001394569.1:p.His1006fs
  • NP_001394570.1:p.His1006fs
  • NP_001394571.1:p.His1006fs
  • NP_001394573.1:p.His1005fs
  • NP_001394574.1:p.His1005fs
  • NP_001394575.1:p.His1003fs
  • NP_001394576.1:p.His1003fs
  • NP_001394577.1:p.His965fs
  • NP_001394578.1:p.His964fs
  • NP_001394581.1:p.His1006fs
  • NP_001394582.1:p.His980fs
  • NP_001394583.1:p.His980fs
  • NP_001394584.1:p.His980fs
  • NP_001394585.1:p.His980fs
  • NP_001394586.1:p.His980fs
  • NP_001394587.1:p.His980fs
  • NP_001394588.1:p.His979fs
  • NP_001394589.1:p.His979fs
  • NP_001394590.1:p.His979fs
  • NP_001394591.1:p.His979fs
  • NP_001394592.1:p.His980fs
  • NP_001394593.1:p.His965fs
  • NP_001394594.1:p.His965fs
  • NP_001394595.1:p.His965fs
  • NP_001394596.1:p.His965fs
  • NP_001394597.1:p.His965fs
  • NP_001394598.1:p.His965fs
  • NP_001394599.1:p.His964fs
  • NP_001394600.1:p.His964fs
  • NP_001394601.1:p.His964fs
  • NP_001394602.1:p.His964fs
  • NP_001394603.1:p.His965fs
  • NP_001394604.1:p.His965fs
  • NP_001394605.1:p.His965fs
  • NP_001394606.1:p.His965fs
  • NP_001394607.1:p.His965fs
  • NP_001394608.1:p.His965fs
  • NP_001394609.1:p.His965fs
  • NP_001394610.1:p.His965fs
  • NP_001394611.1:p.His965fs
  • NP_001394612.1:p.His965fs
  • NP_001394613.1:p.His1006fs
  • NP_001394614.1:p.His964fs
  • NP_001394615.1:p.His964fs
  • NP_001394616.1:p.His964fs
  • NP_001394617.1:p.His964fs
  • NP_001394618.1:p.His964fs
  • NP_001394619.1:p.His964fs
  • NP_001394620.1:p.His964fs
  • NP_001394621.1:p.His959fs
  • NP_001394623.1:p.His959fs
  • NP_001394624.1:p.His959fs
  • NP_001394625.1:p.His959fs
  • NP_001394626.1:p.His959fs
  • NP_001394627.1:p.His959fs
  • NP_001394653.1:p.His959fs
  • NP_001394654.1:p.His959fs
  • NP_001394655.1:p.His959fs
  • NP_001394656.1:p.His959fs
  • NP_001394657.1:p.His959fs
  • NP_001394658.1:p.His959fs
  • NP_001394659.1:p.His959fs
  • NP_001394660.1:p.His959fs
  • NP_001394661.1:p.His959fs
  • NP_001394662.1:p.His959fs
  • NP_001394663.1:p.His959fs
  • NP_001394664.1:p.His959fs
  • NP_001394665.1:p.His959fs
  • NP_001394666.1:p.His959fs
  • NP_001394667.1:p.His959fs
  • NP_001394668.1:p.His959fs
  • NP_001394669.1:p.His958fs
  • NP_001394670.1:p.His958fs
  • NP_001394671.1:p.His958fs
  • NP_001394672.1:p.His958fs
  • NP_001394673.1:p.His958fs
  • NP_001394674.1:p.His958fs
  • NP_001394675.1:p.His958fs
  • NP_001394676.1:p.His958fs
  • NP_001394677.1:p.His958fs
  • NP_001394678.1:p.His958fs
  • NP_001394679.1:p.His959fs
  • NP_001394680.1:p.His959fs
  • NP_001394681.1:p.His959fs
  • NP_001394767.1:p.His958fs
  • NP_001394768.1:p.His958fs
  • NP_001394770.1:p.His958fs
  • NP_001394771.1:p.His958fs
  • NP_001394772.1:p.His958fs
  • NP_001394773.1:p.His958fs
  • NP_001394774.1:p.His958fs
  • NP_001394775.1:p.His958fs
  • NP_001394776.1:p.His958fs
  • NP_001394777.1:p.His958fs
  • NP_001394778.1:p.His958fs
  • NP_001394779.1:p.His959fs
  • NP_001394780.1:p.His959fs
  • NP_001394781.1:p.His959fs
  • NP_001394782.1:p.His935fs
  • NP_001394783.1:p.His1006fs
  • NP_001394787.1:p.His1006fs
  • NP_001394788.1:p.His1006fs
  • NP_001394789.1:p.His1005fs
  • NP_001394790.1:p.His1005fs
  • NP_001394791.1:p.His939fs
  • NP_001394792.1:p.His965fs
  • NP_001394803.1:p.His938fs
  • NP_001394804.1:p.His938fs
  • NP_001394808.1:p.His936fs
  • NP_001394810.1:p.His936fs
  • NP_001394811.1:p.His936fs
  • NP_001394813.1:p.His936fs
  • NP_001394814.1:p.His936fs
  • NP_001394815.1:p.His936fs
  • NP_001394816.1:p.His936fs
  • NP_001394818.1:p.His936fs
  • NP_001394823.1:p.His935fs
  • NP_001394824.1:p.His935fs
  • NP_001394825.1:p.His935fs
  • NP_001394826.1:p.His935fs
  • NP_001394827.1:p.His935fs
  • NP_001394828.1:p.His935fs
  • NP_001394829.1:p.His936fs
  • NP_001394831.1:p.His936fs
  • NP_001394833.1:p.His936fs
  • NP_001394835.1:p.His936fs
  • NP_001394836.1:p.His936fs
  • NP_001394837.1:p.His936fs
  • NP_001394838.1:p.His936fs
  • NP_001394839.1:p.His936fs
  • NP_001394844.1:p.His935fs
  • NP_001394845.1:p.His935fs
  • NP_001394846.1:p.His935fs
  • NP_001394847.1:p.His935fs
  • NP_001394848.1:p.His965fs
  • NP_001394849.1:p.His918fs
  • NP_001394850.1:p.His918fs
  • NP_001394851.1:p.His918fs
  • NP_001394852.1:p.His918fs
  • NP_001394853.1:p.His918fs
  • NP_001394854.1:p.His918fs
  • NP_001394855.1:p.His918fs
  • NP_001394856.1:p.His918fs
  • NP_001394857.1:p.His918fs
  • NP_001394858.1:p.His918fs
  • NP_001394859.1:p.His917fs
  • NP_001394860.1:p.His917fs
  • NP_001394861.1:p.His917fs
  • NP_001394862.1:p.His918fs
  • NP_001394863.1:p.His917fs
  • NP_001394864.1:p.His918fs
  • NP_001394865.1:p.His917fs
  • NP_001394866.1:p.His965fs
  • NP_001394867.1:p.His965fs
  • NP_001394868.1:p.His965fs
  • NP_001394869.1:p.His964fs
  • NP_001394870.1:p.His964fs
  • NP_001394871.1:p.His959fs
  • NP_001394872.1:p.His958fs
  • NP_001394873.1:p.His959fs
  • NP_001394874.1:p.His959fs
  • NP_001394875.1:p.His895fs
  • NP_001394876.1:p.His895fs
  • NP_001394877.1:p.His895fs
  • NP_001394878.1:p.His895fs
  • NP_001394879.1:p.His895fs
  • NP_001394880.1:p.His895fs
  • NP_001394881.1:p.His895fs
  • NP_001394882.1:p.His895fs
  • NP_001394883.1:p.His894fs
  • NP_001394884.1:p.His894fs
  • NP_001394885.1:p.His894fs
  • NP_001394886.1:p.His895fs
  • NP_001394887.1:p.His894fs
  • NP_001394888.1:p.His879fs
  • NP_001394889.1:p.His879fs
  • NP_001394891.1:p.His878fs
  • NP_001394892.1:p.His879fs
  • NP_001394893.1:p.His958fs
  • NP_001394894.1:p.His838fs
  • NP_001394895.1:p.His710fs
  • NP_001394896.1:p.His710fs
  • NP_009225.1:p.His1006Glnfs
  • NP_009225.1:p.His1006fs
  • NP_009228.2:p.His959fs
  • NP_009231.2:p.His1006fs
  • LRG_292t1:c.3016_3019del
  • LRG_292:g.125471_125474del
  • LRG_292p1:p.His1006Glnfs
  • NC_000017.10:g.41244527_41244530del
  • NC_000017.10:g.41244527_41244530delTGAA
  • NC_000017.10:g.41244529_41244532del
  • NC_000017.10:g.41244529_41244532del
  • NM_007294.3:c.3016_3019delCATT
  • NM_007294.3:c.3018_3021delTTCA
  • NR_027676.1:n.3152_3155delCATT
  • U14680.1:n.3135_3138delCATT
  • U14680.1:n.3137_3140delTTCA
  • p.His1006Glnfs*17
Protein change:
H1003fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 3135&base_change=del CATT; Breast Cancer Information Core (BIC) (BRCA1): 3137&base_change=del TTCA; dbSNP: rs80357749
NCBI 1000 Genomes Browser:
rs80357749
Molecular consequence:
  • NM_001407571.1:c.2805_2808del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.3015_3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.3015_3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.3015_3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.3015_3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.3015_3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.3015_3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.3015_3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.3015_3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.3015_3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.3015_3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.3015_3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.3015_3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.3015_3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.3015_3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.3015_3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.3015_3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.3015_3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.3015_3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.3015_3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.3015_3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.3015_3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.3015_3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.3015_3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.3009_3012del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.3009_3012del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.2895_2898del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.2892_2895del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.2940_2943del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.2940_2943del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.2940_2943del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.2940_2943del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.2940_2943del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.2940_2943del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.2937_2940del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.2937_2940del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.2937_2940del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.2937_2940del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.2940_2943del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.2895_2898del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.2895_2898del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.2895_2898del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.2895_2898del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.2895_2898del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.2895_2898del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.2892_2895del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.2892_2895del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.2892_2895del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.2892_2895del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.2895_2898del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.2895_2898del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.2895_2898del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.2895_2898del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.2895_2898del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.2895_2898del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.2895_2898del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.2895_2898del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.2895_2898del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.2895_2898del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.2892_2895del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.2892_2895del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.2892_2895del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.2892_2895del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.2892_2895del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.2892_2895del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.2892_2895del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.2874_2877del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.2874_2877del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.2874_2877del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.2874_2877del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.2874_2877del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.2874_2877del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.2874_2877del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.2874_2877del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.2874_2877del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.2874_2877del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.2874_2877del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.2874_2877del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.2874_2877del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.2874_2877del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.2874_2877del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.2874_2877del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.2874_2877del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.2874_2877del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.2874_2877del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.2874_2877del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.2874_2877del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.2805_2808del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.3015_3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.3015_3018del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.2817_2820del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.2895_2898del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.2814_2817del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.2814_2817del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.2808_2811del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.2808_2811del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.2808_2811del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.2808_2811del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.2808_2811del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.2808_2811del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.2808_2811del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.2808_2811del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.2805_2808del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.2805_2808del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.2805_2808del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.2805_2808del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.2805_2808del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.2805_2808del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.2808_2811del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.2808_2811del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.2808_2811del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.2808_2811del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.2808_2811del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.2808_2811del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.2808_2811del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.2808_2811del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.2805_2808del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.2805_2808del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.2805_2808del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.2805_2808del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.2895_2898del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.2754_2757del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.2754_2757del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.2754_2757del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.2754_2757del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.2754_2757del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.2754_2757del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.2754_2757del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.2754_2757del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.2754_2757del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.2754_2757del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.2751_2754del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.2751_2754del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.2751_2754del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.2754_2757del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.2751_2754del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.2754_2757del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.2751_2754del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.2895_2898del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.2895_2898del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.2895_2898del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.2892_2895del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.2892_2895del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.2874_2877del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.2685_2688del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.2685_2688del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.2685_2688del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.2685_2688del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.2685_2688del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.2685_2688del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.2685_2688del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.2685_2688del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.2682_2685del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.2682_2685del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.2682_2685del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.2685_2688del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.2682_2685del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.2637_2640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.2637_2640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.2634_2637del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.2637_2640del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.2874_2877del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.2514_2517del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.2130_2133del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.2130_2133del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.2877_2880del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.3018_3021del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.788-374_788-371del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-374_788-371del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.788-1481_788-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.788-1481_788-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.785-1481_785-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.788-1481_788-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.788-1481_788-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.788-1481_788-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.788-1481_788-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.788-1481_788-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.788-1481_788-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.788-1481_788-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.788-1481_788-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.788-1481_788-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.788-1481_788-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.788-1481_788-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.785-1481_785-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.785-1481_785-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.785-1481_785-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.788-1481_788-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.785-1481_785-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.785-1481_785-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.788-1481_788-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.785-1481_785-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.785-1481_785-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.785-1481_785-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.785-1481_785-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.785-1481_785-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.785-1481_785-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.785-1481_785-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.785-1481_785-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.788-1481_788-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.788-1481_788-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.791-1490_791-1487del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.785-1481_785-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.779-1481_779-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.710-1481_710-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.647-1481_647-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.710-1481_710-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.710-1481_710-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.707-1481_707-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.710-1481_710-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.710-1481_710-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.707-1481_707-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-1481_671-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-1481_671-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-1481_671-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-1481_668-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-1481_671-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-1481_671-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-1481_668-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.665-1481_665-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.665-1481_665-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.665-1481_665-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.665-1481_665-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.665-1481_665-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.665-1481_665-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-1481_668-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.662-1481_662-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.662-1481_662-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.662-1481_662-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.662-1481_662-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.665-1481_665-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.665-1481_665-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.665-1481_665-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.665-1481_665-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.665-1481_665-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.665-1481_665-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.665-1481_665-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.665-1481_665-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.665-1481_665-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.662-1481_662-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.662-1481_662-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.662-1481_662-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.662-1481_662-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.662-1481_662-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.653-1481_653-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.647-1481_647-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.647-1481_647-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.647-1481_647-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.647-1481_647-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.647-1481_647-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.647-1481_647-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.647-1481_647-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.647-1481_647-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.647-1481_647-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.647-1481_647-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.644-1481_644-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.644-1481_644-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.644-1481_644-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.644-1481_644-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.647-1481_647-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.647-1481_647-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.644-1481_644-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.647-1481_647-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.644-1481_644-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.788-1481_788-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.785-1481_785-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.587-1481_587-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.584-1481_584-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.587-1481_587-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.578-1481_578-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.578-1481_578-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.578-1481_578-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.578-1481_578-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.578-1481_578-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.578-1481_578-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.578-1481_578-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.578-1481_578-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.578-1481_578-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.575-1481_575-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.575-1481_575-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.578-1481_578-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.575-1481_575-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-1481_548-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-1481_545-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.524-1481_524-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.524-1481_524-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.524-1481_524-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.524-1481_524-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.524-1481_524-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.524-1481_524-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.455-1481_455-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.521-1481_521-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.521-1481_521-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.521-1481_521-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-1481_461-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-1481_461-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.452-1481_452-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.452-1481_452-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.407-1481_407-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-1481_404-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.284-1481_284-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.578-1481_578-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.578-1481_578-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.788-1481_788-1478del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-1481_788-1478del - 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
SCV000587273Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR)
no assertion criteria provided
Pathogenic
(Jan 31, 2014) 		germlineresearch

SCV001590197Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 27, 2024) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch
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

BRCA1-related breast cancer in Austrian breast and ovarian cancer families: specific BRCA1 mutations and pathological characteristics.

Wagner TM, Möslinger RA, Muhr D, Langbauer G, Hirtenlehner K, Concin H, Doeller W, Haid A, Lang AH, Mayer P, Ropp E, Kubista E, Amirimani B, Helbich T, Becherer A, Scheiner O, Breiteneder H, Borg A, Devilee P, Oefner P, Zielinski C.

Int J Cancer. 1998 Jul 29;77(3):354-60.

PubMed [citation]
PMID:
9663595
See all PubMed Citations (4)

Details of each submission

From Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto - The Canadian Open Genetics Repository (COGR), SCV000587273.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Invitae, SCV001590197.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.His1006Glnfs*17) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of hereditary breast and ovarian cancer syndrome (PMID: 9663595, 29907814). This variant is also known as 3135del4. ClinVar contains an entry for this variant (Variation ID: 54749). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 16, 2024