NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Dec 27, 2019
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000480052.15

Allele description [Variation Report for NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs)]

NM_007294.4(BRCA1):c.2806_2809del (p.Asp936fs)

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.2806_2809del (p.Asp936fs)

HGVS:

NC_000017.10:g.41244739_41244742del
NC_000017.11:g.43092723_43092726del
NG_005905.2:g.125259_125262del
NM_001407571.1:c.2593_2596del
NM_001407581.1:c.2806_2809del
NM_001407582.1:c.2806_2809del
NM_001407583.1:c.2806_2809del
NM_001407585.1:c.2806_2809del
NM_001407587.1:c.2803_2806del
NM_001407590.1:c.2803_2806del
NM_001407591.1:c.2803_2806del
NM_001407593.1:c.2806_2809del
NM_001407594.1:c.2806_2809del
NM_001407596.1:c.2806_2809del
NM_001407597.1:c.2806_2809del
NM_001407598.1:c.2806_2809del
NM_001407602.1:c.2806_2809del
NM_001407603.1:c.2806_2809del
NM_001407605.1:c.2806_2809del
NM_001407610.1:c.2803_2806del
NM_001407611.1:c.2803_2806del
NM_001407612.1:c.2803_2806del
NM_001407613.1:c.2803_2806del
NM_001407614.1:c.2803_2806del
NM_001407615.1:c.2803_2806del
NM_001407616.1:c.2806_2809del
NM_001407617.1:c.2806_2809del
NM_001407618.1:c.2806_2809del
NM_001407619.1:c.2806_2809del
NM_001407620.1:c.2806_2809del
NM_001407621.1:c.2806_2809del
NM_001407622.1:c.2806_2809del
NM_001407623.1:c.2806_2809del
NM_001407624.1:c.2806_2809del
NM_001407625.1:c.2806_2809del
NM_001407626.1:c.2806_2809del
NM_001407627.1:c.2803_2806del
NM_001407628.1:c.2803_2806del
NM_001407629.1:c.2803_2806del
NM_001407630.1:c.2803_2806del
NM_001407631.1:c.2803_2806del
NM_001407632.1:c.2803_2806del
NM_001407633.1:c.2803_2806del
NM_001407634.1:c.2803_2806del
NM_001407635.1:c.2803_2806del
NM_001407636.1:c.2803_2806del
NM_001407637.1:c.2803_2806del
NM_001407638.1:c.2803_2806del
NM_001407639.1:c.2806_2809del
NM_001407640.1:c.2806_2809del
NM_001407641.1:c.2806_2809del
NM_001407642.1:c.2806_2809del
NM_001407644.1:c.2803_2806del
NM_001407645.1:c.2803_2806del
NM_001407646.1:c.2797_2800del
NM_001407647.1:c.2797_2800del
NM_001407648.1:c.2683_2686del
NM_001407649.1:c.2680_2683del
NM_001407652.1:c.2806_2809del
NM_001407653.1:c.2728_2731del
NM_001407654.1:c.2728_2731del
NM_001407655.1:c.2728_2731del
NM_001407656.1:c.2728_2731del
NM_001407657.1:c.2728_2731del
NM_001407658.1:c.2728_2731del
NM_001407659.1:c.2725_2728del
NM_001407660.1:c.2725_2728del
NM_001407661.1:c.2725_2728del
NM_001407662.1:c.2725_2728del
NM_001407663.1:c.2728_2731del
NM_001407664.1:c.2683_2686del
NM_001407665.1:c.2683_2686del
NM_001407666.1:c.2683_2686del
NM_001407667.1:c.2683_2686del
NM_001407668.1:c.2683_2686del
NM_001407669.1:c.2683_2686del
NM_001407670.1:c.2680_2683del
NM_001407671.1:c.2680_2683del
NM_001407672.1:c.2680_2683del
NM_001407673.1:c.2680_2683del
NM_001407674.1:c.2683_2686del
NM_001407675.1:c.2683_2686del
NM_001407676.1:c.2683_2686del
NM_001407677.1:c.2683_2686del
NM_001407678.1:c.2683_2686del
NM_001407679.1:c.2683_2686del
NM_001407680.1:c.2683_2686del
NM_001407681.1:c.2683_2686del
NM_001407682.1:c.2683_2686del
NM_001407683.1:c.2683_2686del
NM_001407684.1:c.2806_2809del
NM_001407685.1:c.2680_2683del
NM_001407686.1:c.2680_2683del
NM_001407687.1:c.2680_2683del
NM_001407688.1:c.2680_2683del
NM_001407689.1:c.2680_2683del
NM_001407690.1:c.2680_2683del
NM_001407691.1:c.2680_2683del
NM_001407692.1:c.2665_2668del
NM_001407694.1:c.2665_2668del
NM_001407695.1:c.2665_2668del
NM_001407696.1:c.2665_2668del
NM_001407697.1:c.2665_2668del
NM_001407698.1:c.2665_2668del
NM_001407724.1:c.2665_2668del
NM_001407725.1:c.2665_2668del
NM_001407726.1:c.2665_2668del
NM_001407727.1:c.2665_2668del
NM_001407728.1:c.2665_2668del
NM_001407729.1:c.2665_2668del
NM_001407730.1:c.2665_2668del
NM_001407731.1:c.2665_2668del
NM_001407732.1:c.2665_2668del
NM_001407733.1:c.2665_2668del
NM_001407734.1:c.2665_2668del
NM_001407735.1:c.2665_2668del
NM_001407736.1:c.2665_2668del
NM_001407737.1:c.2665_2668del
NM_001407738.1:c.2665_2668del
NM_001407739.1:c.2665_2668del
NM_001407740.1:c.2662_2665del
NM_001407741.1:c.2662_2665del
NM_001407742.1:c.2662_2665del
NM_001407743.1:c.2662_2665del
NM_001407744.1:c.2662_2665del
NM_001407745.1:c.2662_2665del
NM_001407746.1:c.2662_2665del
NM_001407747.1:c.2662_2665del
NM_001407748.1:c.2662_2665del
NM_001407749.1:c.2662_2665del
NM_001407750.1:c.2665_2668del
NM_001407751.1:c.2665_2668del
NM_001407752.1:c.2665_2668del
NM_001407838.1:c.2662_2665del
NM_001407839.1:c.2662_2665del
NM_001407841.1:c.2662_2665del
NM_001407842.1:c.2662_2665del
NM_001407843.1:c.2662_2665del
NM_001407844.1:c.2662_2665del
NM_001407845.1:c.2662_2665del
NM_001407846.1:c.2662_2665del
NM_001407847.1:c.2662_2665del
NM_001407848.1:c.2662_2665del
NM_001407849.1:c.2662_2665del
NM_001407850.1:c.2665_2668del
NM_001407851.1:c.2665_2668del
NM_001407852.1:c.2665_2668del
NM_001407853.1:c.2593_2596del
NM_001407854.1:c.2806_2809del
NM_001407858.1:c.2806_2809del
NM_001407859.1:c.2806_2809del
NM_001407860.1:c.2803_2806del
NM_001407861.1:c.2803_2806del
NM_001407862.1:c.2605_2608del
NM_001407863.1:c.2683_2686del
NM_001407874.1:c.2602_2605del
NM_001407875.1:c.2602_2605del
NM_001407879.1:c.2596_2599del
NM_001407881.1:c.2596_2599del
NM_001407882.1:c.2596_2599del
NM_001407884.1:c.2596_2599del
NM_001407885.1:c.2596_2599del
NM_001407886.1:c.2596_2599del
NM_001407887.1:c.2596_2599del
NM_001407889.1:c.2596_2599del
NM_001407894.1:c.2593_2596del
NM_001407895.1:c.2593_2596del
NM_001407896.1:c.2593_2596del
NM_001407897.1:c.2593_2596del
NM_001407898.1:c.2593_2596del
NM_001407899.1:c.2593_2596del
NM_001407900.1:c.2596_2599del
NM_001407902.1:c.2596_2599del
NM_001407904.1:c.2596_2599del
NM_001407906.1:c.2596_2599del
NM_001407907.1:c.2596_2599del
NM_001407908.1:c.2596_2599del
NM_001407909.1:c.2596_2599del
NM_001407910.1:c.2596_2599del
NM_001407915.1:c.2593_2596del
NM_001407916.1:c.2593_2596del
NM_001407917.1:c.2593_2596del
NM_001407918.1:c.2593_2596del
NM_001407919.1:c.2683_2686del
NM_001407920.1:c.2542_2545del
NM_001407921.1:c.2542_2545del
NM_001407922.1:c.2542_2545del
NM_001407923.1:c.2542_2545del
NM_001407924.1:c.2542_2545del
NM_001407925.1:c.2542_2545del
NM_001407926.1:c.2542_2545del
NM_001407927.1:c.2542_2545del
NM_001407928.1:c.2542_2545del
NM_001407929.1:c.2542_2545del
NM_001407930.1:c.2539_2542del
NM_001407931.1:c.2539_2542del
NM_001407932.1:c.2539_2542del
NM_001407933.1:c.2542_2545del
NM_001407934.1:c.2539_2542del
NM_001407935.1:c.2542_2545del
NM_001407936.1:c.2539_2542del
NM_001407937.1:c.2683_2686del
NM_001407938.1:c.2683_2686del
NM_001407939.1:c.2683_2686del
NM_001407940.1:c.2680_2683del
NM_001407941.1:c.2680_2683del
NM_001407942.1:c.2665_2668del
NM_001407943.1:c.2662_2665del
NM_001407944.1:c.2665_2668del
NM_001407945.1:c.2665_2668del
NM_001407946.1:c.2473_2476del
NM_001407947.1:c.2473_2476del
NM_001407948.1:c.2473_2476del
NM_001407949.1:c.2473_2476del
NM_001407950.1:c.2473_2476del
NM_001407951.1:c.2473_2476del
NM_001407952.1:c.2473_2476del
NM_001407953.1:c.2473_2476del
NM_001407954.1:c.2470_2473del
NM_001407955.1:c.2470_2473del
NM_001407956.1:c.2470_2473del
NM_001407957.1:c.2473_2476del
NM_001407958.1:c.2470_2473del
NM_001407959.1:c.2425_2428del
NM_001407960.1:c.2425_2428del
NM_001407962.1:c.2422_2425del
NM_001407963.1:c.2425_2428del
NM_001407964.1:c.2662_2665del
NM_001407965.1:c.2302_2305del
NM_001407966.1:c.1918_1921del
NM_001407967.1:c.1918_1921del
NM_001407968.1:c.788-586_788-583del
NM_001407969.1:c.788-586_788-583del
NM_001407970.1:c.788-1693_788-1690del
NM_001407971.1:c.788-1693_788-1690del
NM_001407972.1:c.785-1693_785-1690del
NM_001407973.1:c.788-1693_788-1690del
NM_001407974.1:c.788-1693_788-1690del
NM_001407975.1:c.788-1693_788-1690del
NM_001407976.1:c.788-1693_788-1690del
NM_001407977.1:c.788-1693_788-1690del
NM_001407978.1:c.788-1693_788-1690del
NM_001407979.1:c.788-1693_788-1690del
NM_001407980.1:c.788-1693_788-1690del
NM_001407981.1:c.788-1693_788-1690del
NM_001407982.1:c.788-1693_788-1690del
NM_001407983.1:c.788-1693_788-1690del
NM_001407984.1:c.785-1693_785-1690del
NM_001407985.1:c.785-1693_785-1690del
NM_001407986.1:c.785-1693_785-1690del
NM_001407990.1:c.788-1693_788-1690del
NM_001407991.1:c.785-1693_785-1690del
NM_001407992.1:c.785-1693_785-1690del
NM_001407993.1:c.788-1693_788-1690del
NM_001408392.1:c.785-1693_785-1690del
NM_001408396.1:c.785-1693_785-1690del
NM_001408397.1:c.785-1693_785-1690del
NM_001408398.1:c.785-1693_785-1690del
NM_001408399.1:c.785-1693_785-1690del
NM_001408400.1:c.785-1693_785-1690del
NM_001408401.1:c.785-1693_785-1690del
NM_001408402.1:c.785-1693_785-1690del
NM_001408403.1:c.788-1693_788-1690del
NM_001408404.1:c.788-1693_788-1690del
NM_001408406.1:c.791-1702_791-1699del
NM_001408407.1:c.785-1693_785-1690del
NM_001408408.1:c.779-1693_779-1690del
NM_001408409.1:c.710-1693_710-1690del
NM_001408410.1:c.647-1693_647-1690del
NM_001408411.1:c.710-1693_710-1690del
NM_001408412.1:c.710-1693_710-1690del
NM_001408413.1:c.707-1693_707-1690del
NM_001408414.1:c.710-1693_710-1690del
NM_001408415.1:c.710-1693_710-1690del
NM_001408416.1:c.707-1693_707-1690del
NM_001408418.1:c.671-1693_671-1690del
NM_001408419.1:c.671-1693_671-1690del
NM_001408420.1:c.671-1693_671-1690del
NM_001408421.1:c.668-1693_668-1690del
NM_001408422.1:c.671-1693_671-1690del
NM_001408423.1:c.671-1693_671-1690del
NM_001408424.1:c.668-1693_668-1690del
NM_001408425.1:c.665-1693_665-1690del
NM_001408426.1:c.665-1693_665-1690del
NM_001408427.1:c.665-1693_665-1690del
NM_001408428.1:c.665-1693_665-1690del
NM_001408429.1:c.665-1693_665-1690del
NM_001408430.1:c.665-1693_665-1690del
NM_001408431.1:c.668-1693_668-1690del
NM_001408432.1:c.662-1693_662-1690del
NM_001408433.1:c.662-1693_662-1690del
NM_001408434.1:c.662-1693_662-1690del
NM_001408435.1:c.662-1693_662-1690del
NM_001408436.1:c.665-1693_665-1690del
NM_001408437.1:c.665-1693_665-1690del
NM_001408438.1:c.665-1693_665-1690del
NM_001408439.1:c.665-1693_665-1690del
NM_001408440.1:c.665-1693_665-1690del
NM_001408441.1:c.665-1693_665-1690del
NM_001408442.1:c.665-1693_665-1690del
NM_001408443.1:c.665-1693_665-1690del
NM_001408444.1:c.665-1693_665-1690del
NM_001408445.1:c.662-1693_662-1690del
NM_001408446.1:c.662-1693_662-1690del
NM_001408447.1:c.662-1693_662-1690del
NM_001408448.1:c.662-1693_662-1690del
NM_001408450.1:c.662-1693_662-1690del
NM_001408451.1:c.653-1693_653-1690del
NM_001408452.1:c.647-1693_647-1690del
NM_001408453.1:c.647-1693_647-1690del
NM_001408454.1:c.647-1693_647-1690del
NM_001408455.1:c.647-1693_647-1690del
NM_001408456.1:c.647-1693_647-1690del
NM_001408457.1:c.647-1693_647-1690del
NM_001408458.1:c.647-1693_647-1690del
NM_001408459.1:c.647-1693_647-1690del
NM_001408460.1:c.647-1693_647-1690del
NM_001408461.1:c.647-1693_647-1690del
NM_001408462.1:c.644-1693_644-1690del
NM_001408463.1:c.644-1693_644-1690del
NM_001408464.1:c.644-1693_644-1690del
NM_001408465.1:c.644-1693_644-1690del
NM_001408466.1:c.647-1693_647-1690del
NM_001408467.1:c.647-1693_647-1690del
NM_001408468.1:c.644-1693_644-1690del
NM_001408469.1:c.647-1693_647-1690del
NM_001408470.1:c.644-1693_644-1690del
NM_001408472.1:c.788-1693_788-1690del
NM_001408473.1:c.785-1693_785-1690del
NM_001408474.1:c.587-1693_587-1690del
NM_001408475.1:c.584-1693_584-1690del
NM_001408476.1:c.587-1693_587-1690del
NM_001408478.1:c.578-1693_578-1690del
NM_001408479.1:c.578-1693_578-1690del
NM_001408480.1:c.578-1693_578-1690del
NM_001408481.1:c.578-1693_578-1690del
NM_001408482.1:c.578-1693_578-1690del
NM_001408483.1:c.578-1693_578-1690del
NM_001408484.1:c.578-1693_578-1690del
NM_001408485.1:c.578-1693_578-1690del
NM_001408489.1:c.578-1693_578-1690del
NM_001408490.1:c.575-1693_575-1690del
NM_001408491.1:c.575-1693_575-1690del
NM_001408492.1:c.578-1693_578-1690del
NM_001408493.1:c.575-1693_575-1690del
NM_001408494.1:c.548-1693_548-1690del
NM_001408495.1:c.545-1693_545-1690del
NM_001408496.1:c.524-1693_524-1690del
NM_001408497.1:c.524-1693_524-1690del
NM_001408498.1:c.524-1693_524-1690del
NM_001408499.1:c.524-1693_524-1690del
NM_001408500.1:c.524-1693_524-1690del
NM_001408501.1:c.524-1693_524-1690del
NM_001408502.1:c.455-1693_455-1690del
NM_001408503.1:c.521-1693_521-1690del
NM_001408504.1:c.521-1693_521-1690del
NM_001408505.1:c.521-1693_521-1690del
NM_001408506.1:c.461-1693_461-1690del
NM_001408507.1:c.461-1693_461-1690del
NM_001408508.1:c.452-1693_452-1690del
NM_001408509.1:c.452-1693_452-1690del
NM_001408510.1:c.407-1693_407-1690del
NM_001408511.1:c.404-1693_404-1690del
NM_001408512.1:c.284-1693_284-1690del
NM_001408513.1:c.578-1693_578-1690del
NM_001408514.1:c.578-1693_578-1690del
NM_007294.4:c.2806_2809delMANE SELECT
NM_007297.4:c.2665_2668del
NM_007298.4:c.788-1693_788-1690del
NM_007299.4:c.788-1693_788-1690del
NM_007300.4:c.2806_2809del
NP_001394500.1:p.Asp865fs
NP_001394510.1:p.Asp936fs
NP_001394511.1:p.Asp936fs
NP_001394512.1:p.Asp936fs
NP_001394514.1:p.Asp936fs
NP_001394516.1:p.Asp935fs
NP_001394519.1:p.Asp935fs
NP_001394520.1:p.Asp935fs
NP_001394522.1:p.Asp936fs
NP_001394523.1:p.Asp936fs
NP_001394525.1:p.Asp936fs
NP_001394526.1:p.Asp936fs
NP_001394527.1:p.Asp936fs
NP_001394531.1:p.Asp936fs
NP_001394532.1:p.Asp936fs
NP_001394534.1:p.Asp936fs
NP_001394539.1:p.Asp935fs
NP_001394540.1:p.Asp935fs
NP_001394541.1:p.Asp935fs
NP_001394542.1:p.Asp935fs
NP_001394543.1:p.Asp935fs
NP_001394544.1:p.Asp935fs
NP_001394545.1:p.Asp936fs
NP_001394546.1:p.Asp936fs
NP_001394547.1:p.Asp936fs
NP_001394548.1:p.Asp936fs
NP_001394549.1:p.Asp936fs
NP_001394550.1:p.Asp936fs
NP_001394551.1:p.Asp936fs
NP_001394552.1:p.Asp936fs
NP_001394553.1:p.Asp936fs
NP_001394554.1:p.Asp936fs
NP_001394555.1:p.Asp936fs
NP_001394556.1:p.Asp935fs
NP_001394557.1:p.Asp935fs
NP_001394558.1:p.Asp935fs
NP_001394559.1:p.Asp935fs
NP_001394560.1:p.Asp935fs
NP_001394561.1:p.Asp935fs
NP_001394562.1:p.Asp935fs
NP_001394563.1:p.Asp935fs
NP_001394564.1:p.Asp935fs
NP_001394565.1:p.Asp935fs
NP_001394566.1:p.Asp935fs
NP_001394567.1:p.Asp935fs
NP_001394568.1:p.Asp936fs
NP_001394569.1:p.Asp936fs
NP_001394570.1:p.Asp936fs
NP_001394571.1:p.Asp936fs
NP_001394573.1:p.Asp935fs
NP_001394574.1:p.Asp935fs
NP_001394575.1:p.Asp933fs
NP_001394576.1:p.Asp933fs
NP_001394577.1:p.Asp895fs
NP_001394578.1:p.Asp894fs
NP_001394581.1:p.Asp936fs
NP_001394582.1:p.Asp910fs
NP_001394583.1:p.Asp910fs
NP_001394584.1:p.Asp910fs
NP_001394585.1:p.Asp910fs
NP_001394586.1:p.Asp910fs
NP_001394587.1:p.Asp910fs
NP_001394588.1:p.Asp909fs
NP_001394589.1:p.Asp909fs
NP_001394590.1:p.Asp909fs
NP_001394591.1:p.Asp909fs
NP_001394592.1:p.Asp910fs
NP_001394593.1:p.Asp895fs
NP_001394594.1:p.Asp895fs
NP_001394595.1:p.Asp895fs
NP_001394596.1:p.Asp895fs
NP_001394597.1:p.Asp895fs
NP_001394598.1:p.Asp895fs
NP_001394599.1:p.Asp894fs
NP_001394600.1:p.Asp894fs
NP_001394601.1:p.Asp894fs
NP_001394602.1:p.Asp894fs
NP_001394603.1:p.Asp895fs
NP_001394604.1:p.Asp895fs
NP_001394605.1:p.Asp895fs
NP_001394606.1:p.Asp895fs
NP_001394607.1:p.Asp895fs
NP_001394608.1:p.Asp895fs
NP_001394609.1:p.Asp895fs
NP_001394610.1:p.Asp895fs
NP_001394611.1:p.Asp895fs
NP_001394612.1:p.Asp895fs
NP_001394613.1:p.Asp936fs
NP_001394614.1:p.Asp894fs
NP_001394615.1:p.Asp894fs
NP_001394616.1:p.Asp894fs
NP_001394617.1:p.Asp894fs
NP_001394618.1:p.Asp894fs
NP_001394619.1:p.Asp894fs
NP_001394620.1:p.Asp894fs
NP_001394621.1:p.Asp889fs
NP_001394623.1:p.Asp889fs
NP_001394624.1:p.Asp889fs
NP_001394625.1:p.Asp889fs
NP_001394626.1:p.Asp889fs
NP_001394627.1:p.Asp889fs
NP_001394653.1:p.Asp889fs
NP_001394654.1:p.Asp889fs
NP_001394655.1:p.Asp889fs
NP_001394656.1:p.Asp889fs
NP_001394657.1:p.Asp889fs
NP_001394658.1:p.Asp889fs
NP_001394659.1:p.Asp889fs
NP_001394660.1:p.Asp889fs
NP_001394661.1:p.Asp889fs
NP_001394662.1:p.Asp889fs
NP_001394663.1:p.Asp889fs
NP_001394664.1:p.Asp889fs
NP_001394665.1:p.Asp889fs
NP_001394666.1:p.Asp889fs
NP_001394667.1:p.Asp889fs
NP_001394668.1:p.Asp889fs
NP_001394669.1:p.Asp888fs
NP_001394670.1:p.Asp888fs
NP_001394671.1:p.Asp888fs
NP_001394672.1:p.Asp888fs
NP_001394673.1:p.Asp888fs
NP_001394674.1:p.Asp888fs
NP_001394675.1:p.Asp888fs
NP_001394676.1:p.Asp888fs
NP_001394677.1:p.Asp888fs
NP_001394678.1:p.Asp888fs
NP_001394679.1:p.Asp889fs
NP_001394680.1:p.Asp889fs
NP_001394681.1:p.Asp889fs
NP_001394767.1:p.Asp888fs
NP_001394768.1:p.Asp888fs
NP_001394770.1:p.Asp888fs
NP_001394771.1:p.Asp888fs
NP_001394772.1:p.Asp888fs
NP_001394773.1:p.Asp888fs
NP_001394774.1:p.Asp888fs
NP_001394775.1:p.Asp888fs
NP_001394776.1:p.Asp888fs
NP_001394777.1:p.Asp888fs
NP_001394778.1:p.Asp888fs
NP_001394779.1:p.Asp889fs
NP_001394780.1:p.Asp889fs
NP_001394781.1:p.Asp889fs
NP_001394782.1:p.Asp865fs
NP_001394783.1:p.Asp936fs
NP_001394787.1:p.Asp936fs
NP_001394788.1:p.Asp936fs
NP_001394789.1:p.Asp935fs
NP_001394790.1:p.Asp935fs
NP_001394791.1:p.Asp869fs
NP_001394792.1:p.Asp895fs
NP_001394803.1:p.Asp868fs
NP_001394804.1:p.Asp868fs
NP_001394808.1:p.Asp866fs
NP_001394810.1:p.Asp866fs
NP_001394811.1:p.Asp866fs
NP_001394813.1:p.Asp866fs
NP_001394814.1:p.Asp866fs
NP_001394815.1:p.Asp866fs
NP_001394816.1:p.Asp866fs
NP_001394818.1:p.Asp866fs
NP_001394823.1:p.Asp865fs
NP_001394824.1:p.Asp865fs
NP_001394825.1:p.Asp865fs
NP_001394826.1:p.Asp865fs
NP_001394827.1:p.Asp865fs
NP_001394828.1:p.Asp865fs
NP_001394829.1:p.Asp866fs
NP_001394831.1:p.Asp866fs
NP_001394833.1:p.Asp866fs
NP_001394835.1:p.Asp866fs
NP_001394836.1:p.Asp866fs
NP_001394837.1:p.Asp866fs
NP_001394838.1:p.Asp866fs
NP_001394839.1:p.Asp866fs
NP_001394844.1:p.Asp865fs
NP_001394845.1:p.Asp865fs
NP_001394846.1:p.Asp865fs
NP_001394847.1:p.Asp865fs
NP_001394848.1:p.Asp895fs
NP_001394849.1:p.Asp848fs
NP_001394850.1:p.Asp848fs
NP_001394851.1:p.Asp848fs
NP_001394852.1:p.Asp848fs
NP_001394853.1:p.Asp848fs
NP_001394854.1:p.Asp848fs
NP_001394855.1:p.Asp848fs
NP_001394856.1:p.Asp848fs
NP_001394857.1:p.Asp848fs
NP_001394858.1:p.Asp848fs
NP_001394859.1:p.Asp847fs
NP_001394860.1:p.Asp847fs
NP_001394861.1:p.Asp847fs
NP_001394862.1:p.Asp848fs
NP_001394863.1:p.Asp847fs
NP_001394864.1:p.Asp848fs
NP_001394865.1:p.Asp847fs
NP_001394866.1:p.Asp895fs
NP_001394867.1:p.Asp895fs
NP_001394868.1:p.Asp895fs
NP_001394869.1:p.Asp894fs
NP_001394870.1:p.Asp894fs
NP_001394871.1:p.Asp889fs
NP_001394872.1:p.Asp888fs
NP_001394873.1:p.Asp889fs
NP_001394874.1:p.Asp889fs
NP_001394875.1:p.Asp825fs
NP_001394876.1:p.Asp825fs
NP_001394877.1:p.Asp825fs
NP_001394878.1:p.Asp825fs
NP_001394879.1:p.Asp825fs
NP_001394880.1:p.Asp825fs
NP_001394881.1:p.Asp825fs
NP_001394882.1:p.Asp825fs
NP_001394883.1:p.Asp824fs
NP_001394884.1:p.Asp824fs
NP_001394885.1:p.Asp824fs
NP_001394886.1:p.Asp825fs
NP_001394887.1:p.Asp824fs
NP_001394888.1:p.Asp809fs
NP_001394889.1:p.Asp809fs
NP_001394891.1:p.Asp808fs
NP_001394892.1:p.Asp809fs
NP_001394893.1:p.Asp888fs
NP_001394894.1:p.Asp768fs
NP_001394895.1:p.Asp640fs
NP_001394896.1:p.Asp640fs
NP_009225.1:p.Asp936Serfs
NP_009225.1:p.Asp936fs
NP_009228.2:p.Asp889fs
NP_009231.2:p.Asp936fs
LRG_292t1:c.2805_2808del
LRG_292:g.125259_125262del
LRG_292p1:p.Asp936Serfs
NC_000017.10:g.41244739_41244742del
NC_000017.10:g.41244739_41244742delTATC
NC_000017.10:g.41244740_41244743del
NC_000017.10:g.41244740_41244743del
NM_007294.3:c.2805_2808delAGAT
NM_007294.3:c.2806_2809delGATA
NM_007294.4:c.2806_2809del
NR_027676.1:n.2941_2944delAGAT
U14680.1:n.2925_2928delGATA
p.Asp936Serfs*63
p.D936SFS*63

Nucleotide change:

2925del4

Protein change:

D640fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 2925&base_change=del GATA; dbSNP: rs80357832

NCBI 1000 Genomes Browser:

rs80357832

Molecular consequence:

NM_001407571.1:c.2593_2596del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.2803_2806del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.2803_2806del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.2803_2806del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.2803_2806del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.2803_2806del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.2803_2806del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.2803_2806del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.2803_2806del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.2803_2806del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.2803_2806del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.2803_2806del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.2803_2806del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.2803_2806del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.2803_2806del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.2803_2806del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.2803_2806del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.2803_2806del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.2803_2806del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.2803_2806del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.2803_2806del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.2803_2806del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.2803_2806del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.2803_2806del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.2797_2800del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.2797_2800del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.2683_2686del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.2680_2683del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.2728_2731del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.2728_2731del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.2728_2731del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.2728_2731del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.2728_2731del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.2728_2731del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.2725_2728del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.2725_2728del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.2725_2728del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.2725_2728del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.2728_2731del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.2683_2686del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.2683_2686del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.2683_2686del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.2683_2686del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.2683_2686del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.2683_2686del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.2680_2683del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.2680_2683del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.2680_2683del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.2680_2683del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.2683_2686del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.2683_2686del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.2683_2686del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.2683_2686del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.2683_2686del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.2683_2686del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.2683_2686del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.2683_2686del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.2683_2686del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.2683_2686del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.2680_2683del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.2680_2683del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.2680_2683del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.2680_2683del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.2680_2683del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.2680_2683del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.2680_2683del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.2662_2665del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.2662_2665del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.2662_2665del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.2662_2665del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.2662_2665del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.2662_2665del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.2662_2665del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.2662_2665del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.2662_2665del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.2662_2665del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.2662_2665del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.2662_2665del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.2662_2665del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.2662_2665del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.2662_2665del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.2662_2665del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.2662_2665del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.2662_2665del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.2662_2665del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.2662_2665del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.2662_2665del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.2593_2596del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.2803_2806del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.2803_2806del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.2605_2608del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.2683_2686del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.2602_2605del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.2602_2605del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.2596_2599del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.2596_2599del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.2596_2599del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.2596_2599del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.2596_2599del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.2596_2599del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.2596_2599del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.2596_2599del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.2593_2596del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.2593_2596del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.2593_2596del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.2593_2596del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.2593_2596del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.2593_2596del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.2596_2599del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.2596_2599del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.2596_2599del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.2596_2599del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.2596_2599del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.2596_2599del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.2596_2599del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.2596_2599del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.2593_2596del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.2593_2596del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.2593_2596del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.2593_2596del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.2683_2686del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.2542_2545del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.2542_2545del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.2542_2545del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.2542_2545del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.2542_2545del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.2542_2545del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.2542_2545del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.2542_2545del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.2542_2545del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.2542_2545del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.2539_2542del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.2539_2542del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.2539_2542del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.2542_2545del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.2539_2542del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.2542_2545del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.2539_2542del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.2683_2686del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.2683_2686del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.2683_2686del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.2680_2683del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.2680_2683del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.2662_2665del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.2473_2476del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.2473_2476del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.2473_2476del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.2473_2476del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.2473_2476del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.2473_2476del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.2473_2476del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.2473_2476del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.2470_2473del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.2470_2473del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.2470_2473del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.2473_2476del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.2470_2473del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.2425_2428del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.2425_2428del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.2422_2425del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.2425_2428del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.2662_2665del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.2302_2305del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.1918_1921del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.1918_1921del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.2665_2668del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.2806_2809del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.788-586_788-583del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-586_788-583del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1693_788-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1693_788-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1693_785-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1693_788-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1693_788-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1693_788-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1693_788-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1693_788-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1693_788-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1693_788-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1693_788-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1693_788-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1693_788-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1693_788-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1693_785-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1693_785-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1693_785-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1693_788-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1693_785-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1693_785-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1693_788-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1693_785-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1693_785-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1693_785-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1693_785-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1693_785-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1693_785-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1693_785-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1693_785-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1693_788-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1693_788-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1702_791-1699del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1693_785-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1693_779-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1693_710-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1693_647-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1693_710-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1693_710-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1693_707-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1693_710-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1693_710-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1693_707-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1693_671-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1693_671-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1693_671-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1693_668-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1693_671-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1693_671-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1693_668-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1693_665-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1693_665-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1693_665-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1693_665-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1693_665-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1693_665-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1693_668-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1693_662-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1693_662-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1693_662-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1693_662-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1693_665-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1693_665-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1693_665-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1693_665-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1693_665-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1693_665-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1693_665-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1693_665-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1693_665-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1693_662-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1693_662-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1693_662-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1693_662-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1693_662-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1693_653-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1693_647-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1693_647-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1693_647-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1693_647-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1693_647-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1693_647-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1693_647-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1693_647-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1693_647-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1693_647-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1693_644-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1693_644-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1693_644-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1693_644-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1693_647-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1693_647-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1693_644-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1693_647-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1693_644-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1693_788-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1693_785-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1693_587-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1693_584-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1693_587-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1693_578-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1693_578-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1693_578-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1693_578-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1693_578-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1693_578-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1693_578-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1693_578-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1693_578-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1693_575-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1693_575-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1693_578-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1693_575-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1693_548-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1693_545-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1693_524-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1693_524-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1693_524-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1693_524-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1693_524-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1693_524-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1693_455-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1693_521-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1693_521-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1693_521-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1693_461-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1693_461-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1693_452-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1693_452-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1693_407-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1693_404-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1693_284-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1693_578-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1693_578-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1693_788-1690del - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1693_788-1690del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000296285	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Dec 27, 2019)	unknown	clinical testing	PubMed (10) [See all records that cite these PMIDs] 22722201, 29446198, 25371446, 25236687, 16030099, 16267036, 9333265, 9699640, 26467025, 26295337
SCV000566927	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Oct 7, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000296285

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Pathogenic
(Dec 27, 2019)

unknown

clinical testing

PubMed (10)
[See all records that cite these PMIDs]

SCV000566927

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Oct 7, 2019)

germline

clinical testing

Citation Link

Help

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

The landscape of cancer genes and mutational processes in breast cancer.

Stephens PJ, Tarpey PS, Davies H, Van Loo P, Greenman C, Wedge DC, Nik-Zainal S, Martin S, Varela I, Bignell GR, Yates LR, Papaemmanuil E, Beare D, Butler A, Cheverton A, Gamble J, Hinton J, Jia M, Jayakumar A, Jones D, Latimer C, Lau KW, et al.

Nature. 2012 May 16;486(7403):400-4. doi: 10.1038/nature11017.

PubMed [citation]

PMID:: 22722201
PMCID:: PMC3428862

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, et al.

Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.

PubMed [citation]

PMID:: 29446198
PMCID:: PMC5903938

See all PubMed Citations (10)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296285.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (10)

Description

This variant alters the translational reading frame of the BRCA1 mRNA and causes the premature termination of BRCA1 protein synthesis. In the published literature, this variant has been reported in individuals with hereditary breast and ovarian cancer (PMIDs: 9333265 (1997), 25236687 (2015), and 16030099 (2005)). Based on the available information, this variant is classified as pathogenic.

#	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

From GeneDx, SCV000566927.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed in individuals with history consistent with pathogenic variants in this gene (Shattuck-Eidens 1997, Rhei 1998, Weitzel 2005, Vaca-Paniagua 2012, Villarreal-Garza 2015); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Not observed in large population cohorts (Lek 2016); This variant is associated with the following publications: (PMID: 31454914, 28127413, 25371446, 25236687, 16267036, 22655046, 22722201, 16030099, 9699640, 9333265, 30720863)

#	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

Last Updated: Nov 24, 2024

ClinVar

Relating variation to medicine