NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs) AND Breast-ovarian cancer, familial, susceptibility to, 1
- Germline classification:
- Pathogenic (11 submissions)
- Last evaluated:
- Sep 8, 2016
- Review status:
- 3 stars out of maximum of 4 starsreviewed by expert panel
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000111982.26
Allele description [Variation Report for NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs)]
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
This HGVS expression did not pass validation- 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]
- Observations:
- 68
Condition(s)
-
Homologene neighbors for GEO Profiles (Select 1018989) (0)
GEO Profiles
-
Profile neighbors for GEO Profiles (Select 1011115) (188)
GEO Profiles
-
BioAssay by Target (List) for Gene (Select 25987) (12)
PubChem BioAssay
-
Taxonomy Links for SRA (Select 30833416) (1)
Taxonomy
-
Human DNA sequence from clone RP5-1187J4 on chromosome 20q11.1-11.23, complete s...
Human DNA sequence from clone RP5-1187J4 on chromosome 20q11.1-11.23, complete sequencegi|10178502|emb|AL355392.7|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000144610 | Breast Cancer Information Core (BIC) (BRCA1) | no assertion criteria provided | Pathogenic (Feb 20, 2004) | germline | clinical testing | |
SCV000195913 | Michigan Medical Genetics Laboratories, University of Michigan | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Nov 3, 2014) | germline | clinical testing | |
SCV000211996 | Institute of Human Genetics, Medical University Innsbruck - BRCA-Tyrol | no assertion criteria provided (clinical testing) | Pathogenic (Feb 11, 2015) | germline | clinical testing | |
SCV000296391 | Quest Diagnostics Nichols Institute San Juan Capistrano | criteria provided, single submitter (Quest Diagnostics criteria) | Pathogenic (Sep 19, 2015) | germline | clinical testing | |
SCV000299874 | Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) | reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015)) | Pathogenic (Sep 8, 2016) | germline | curation | ENIGMA BRCA1/2 Classification Criteria (2015), |
SCV000325528 | Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge | criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016) | Pathogenic (Oct 2, 2015) | germline | clinical testing | CIMBA_Mutation_Classification_guidelines_May16.pdf, |
SCV001434968 | Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Aug 19, 2019) | germline | clinical testing | |
SCV001499615 | Department of Molecular Diagnostics, Institute of Oncology Ljubljana | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Apr 2, 2020) | germline | clinical testing | |
SCV002762797 | Centre for Mendelian Genomics, University Medical Centre Ljubljana | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Dec 9, 2022) | germline | research | |
SCV004244066 | BRCAlab, Lund University | no assertion criteria provided | Pathogenic (Mar 2, 2020) | germline | clinical testing | |
SCV005058239 | Baylor Genetics | criteria provided, single submitter (ACMG Guidelines, 2015) | Pathogenic (Mar 3, 2024) | unknown | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | unknown | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
not provided | germline | no | not provided | not provided | not provided | not provided | not provided | research |
not provided | germline | unknown | not provided | 68 | not provided | not provided | not provided | clinical testing, curation |
not provided | germline | yes | 12 | not provided | not provided | not provided | not provided | clinical testing |
Western European | germline | yes | 1 | not provided | not provided | not provided | not provided | clinical testing |
Western Europeanan, Central/Eastern European | germline | yes | 1 | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
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.
- PMID:
- 9663595
The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population.
Stegel V, Krajc M, Zgajnar J, Teugels E, De Grève J, Hočevar M, Novaković S.
BMC Med Genet. 2011 Jan 14;12:9. doi: 10.1186/1471-2350-12-9.
- PMID:
- 21232165
- PMCID:
- PMC3025939
Details of each submission
From Breast Cancer Information Core (BIC) (BRCA1), SCV000144610.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 5 | not provided | not provided | clinical testing | not provided |
2 | Western European | 1 | not provided | not provided | clinical testing | not provided |
3 | Western Europeanan, Central/Eastern European | 1 | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | 5 | not provided | not provided | not provided | |
2 | germline | yes | not provided | not provided | not provided | 1 | not provided | not provided | not provided | |
3 | germline | yes | not provided | not provided | not provided | 1 | not provided | not provided | not provided |
From Michigan Medical Genetics Laboratories, University of Michigan, SCV000195913.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | Blood | not provided | not provided | not provided | not provided | not provided |
From Institute of Human Genetics, Medical University Innsbruck - BRCA-Tyrol, SCV000211996.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 7 | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | 7 | not provided | not provided | not provided |
From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296391.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (5) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000299874.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | curation | not provided |
Description
Variant allele predicted to encode a truncated non-functional protein.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325528.4
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | 68 | not provided |
From Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine, SCV001434968.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
Description
The c.3018_3021delTTCA (p.His1006GlnfsTer17) variant in the BRCA1 gene is predicted to introduce a premature translation termination codon. This variant is not observed in gnomAD and is considered pathogenic by the ENIGMA expert panel (Accession: SCV000299874.2). It has been identified in three Slovene hereditary breast and ovarian cancer families (PMID 22923021). Therefore, the c.3018_3021delTTCA (p.His1006GlnfsTer17) variant in the BRCA1 gene is classified as pathogenic.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Department of Molecular Diagnostics, Institute of Oncology Ljubljana, SCV001499615.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV002762797.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | research | PubMed (1) |
Description
PVS1, PS4_STR PM2_SUP
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | no | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From BRCAlab, Lund University, SCV004244066.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Baylor Genetics, SCV005058239.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: Aug 25, 2024