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 stars
reviewed by expert panel

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: 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

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:

Condition(s)

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

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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 sequence
gi|10178502|emb|AL355392.7|

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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	PubMed (1) [See all records that cite this PMID]
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	PubMed (5) [See all records that cite these PMIDs] 9663595, 21232165, 22923021, 26467025, 26295337
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), Citation Link,
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, Citation Link,
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	PubMed (1) [See all records that cite this PMID]
SCV001499615	Department of Molecular Diagnostics, Institute of Oncology Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 2, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002762797	Centre for Mendelian Genomics, University Medical Centre Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 9, 2022)	germline	research	PubMed (1) [See all records that cite this PMID]
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	PubMed (1) [See all records that cite this PMID]

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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.

PubMed [citation]

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.

PubMed [citation]

PMID:: 21232165
PMCID:: PMC3025939

See all PubMed Citations (6)

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

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