NM_007294.4(BRCA1):c.3257del (p.Arg1085_Leu1086insTer) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Dec 15, 2017
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:: RCV000239028.3

Allele description [Variation Report for NM_007294.4(BRCA1):c.3257del (p.Arg1085_Leu1086insTer)]

NM_007294.4(BRCA1):c.3257del (p.Arg1085_Leu1086insTer)

Genes:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
LOC126862571:BRD4-independent group 4 enhancer GRCh37_chr17:41243136-41244335 [Gene]

Variant type:

Deletion

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.3257del (p.Arg1085_Leu1086insTer)

HGVS:

NC_000017.11:g.43092275del
NG_005905.2:g.125710del
NG_087068.1:g.1257del
NM_001407571.1:c.3044del
NM_001407581.1:c.3257del
NM_001407582.1:c.3257del
NM_001407583.1:c.3257del
NM_001407585.1:c.3257del
NM_001407587.1:c.3254del
NM_001407590.1:c.3254del
NM_001407591.1:c.3254del
NM_001407593.1:c.3257del
NM_001407594.1:c.3257del
NM_001407596.1:c.3257del
NM_001407597.1:c.3257del
NM_001407598.1:c.3257del
NM_001407602.1:c.3257del
NM_001407603.1:c.3257del
NM_001407605.1:c.3257del
NM_001407610.1:c.3254del
NM_001407611.1:c.3254del
NM_001407612.1:c.3254del
NM_001407613.1:c.3254del
NM_001407614.1:c.3254del
NM_001407615.1:c.3254del
NM_001407616.1:c.3257del
NM_001407617.1:c.3257del
NM_001407618.1:c.3257del
NM_001407619.1:c.3257del
NM_001407620.1:c.3257del
NM_001407621.1:c.3257del
NM_001407622.1:c.3257del
NM_001407623.1:c.3257del
NM_001407624.1:c.3257del
NM_001407625.1:c.3257del
NM_001407626.1:c.3257del
NM_001407627.1:c.3254del
NM_001407628.1:c.3254del
NM_001407629.1:c.3254del
NM_001407630.1:c.3254del
NM_001407631.1:c.3254del
NM_001407632.1:c.3254del
NM_001407633.1:c.3254del
NM_001407634.1:c.3254del
NM_001407635.1:c.3254del
NM_001407636.1:c.3254del
NM_001407637.1:c.3254del
NM_001407638.1:c.3254del
NM_001407639.1:c.3257del
NM_001407640.1:c.3257del
NM_001407641.1:c.3257del
NM_001407642.1:c.3257del
NM_001407644.1:c.3254del
NM_001407645.1:c.3254del
NM_001407646.1:c.3248del
NM_001407647.1:c.3248del
NM_001407648.1:c.3134del
NM_001407649.1:c.3131del
NM_001407652.1:c.3257del
NM_001407653.1:c.3179del
NM_001407654.1:c.3179del
NM_001407655.1:c.3179del
NM_001407656.1:c.3179del
NM_001407657.1:c.3179del
NM_001407658.1:c.3179del
NM_001407659.1:c.3176del
NM_001407660.1:c.3176del
NM_001407661.1:c.3176del
NM_001407662.1:c.3176del
NM_001407663.1:c.3179del
NM_001407664.1:c.3134del
NM_001407665.1:c.3134del
NM_001407666.1:c.3134del
NM_001407667.1:c.3134del
NM_001407668.1:c.3134del
NM_001407669.1:c.3134del
NM_001407670.1:c.3131del
NM_001407671.1:c.3131del
NM_001407672.1:c.3131del
NM_001407673.1:c.3131del
NM_001407674.1:c.3134del
NM_001407675.1:c.3134del
NM_001407676.1:c.3134del
NM_001407677.1:c.3134del
NM_001407678.1:c.3134del
NM_001407679.1:c.3134del
NM_001407680.1:c.3134del
NM_001407681.1:c.3134del
NM_001407682.1:c.3134del
NM_001407683.1:c.3134del
NM_001407684.1:c.3257del
NM_001407685.1:c.3131del
NM_001407686.1:c.3131del
NM_001407687.1:c.3131del
NM_001407688.1:c.3131del
NM_001407689.1:c.3131del
NM_001407690.1:c.3131del
NM_001407691.1:c.3131del
NM_001407692.1:c.3116del
NM_001407694.1:c.3116del
NM_001407695.1:c.3116del
NM_001407696.1:c.3116del
NM_001407697.1:c.3116del
NM_001407698.1:c.3116del
NM_001407724.1:c.3116del
NM_001407725.1:c.3116del
NM_001407726.1:c.3116del
NM_001407727.1:c.3116del
NM_001407728.1:c.3116del
NM_001407729.1:c.3116del
NM_001407730.1:c.3116del
NM_001407731.1:c.3116del
NM_001407732.1:c.3116del
NM_001407733.1:c.3116del
NM_001407734.1:c.3116del
NM_001407735.1:c.3116del
NM_001407736.1:c.3116del
NM_001407737.1:c.3116del
NM_001407738.1:c.3116del
NM_001407739.1:c.3116del
NM_001407740.1:c.3113del
NM_001407741.1:c.3113del
NM_001407742.1:c.3113del
NM_001407743.1:c.3113del
NM_001407744.1:c.3113del
NM_001407745.1:c.3113del
NM_001407746.1:c.3113del
NM_001407747.1:c.3113del
NM_001407748.1:c.3113del
NM_001407749.1:c.3113del
NM_001407750.1:c.3116del
NM_001407751.1:c.3116del
NM_001407752.1:c.3116del
NM_001407838.1:c.3113del
NM_001407839.1:c.3113del
NM_001407841.1:c.3113del
NM_001407842.1:c.3113del
NM_001407843.1:c.3113del
NM_001407844.1:c.3113del
NM_001407845.1:c.3113del
NM_001407846.1:c.3113del
NM_001407847.1:c.3113del
NM_001407848.1:c.3113del
NM_001407849.1:c.3113del
NM_001407850.1:c.3116del
NM_001407851.1:c.3116del
NM_001407852.1:c.3116del
NM_001407853.1:c.3044del
NM_001407854.1:c.3257del
NM_001407858.1:c.3257del
NM_001407859.1:c.3257del
NM_001407860.1:c.3254del
NM_001407861.1:c.3254del
NM_001407862.1:c.3056del
NM_001407863.1:c.3134del
NM_001407874.1:c.3053del
NM_001407875.1:c.3053del
NM_001407879.1:c.3047del
NM_001407881.1:c.3047del
NM_001407882.1:c.3047del
NM_001407884.1:c.3047del
NM_001407885.1:c.3047del
NM_001407886.1:c.3047del
NM_001407887.1:c.3047del
NM_001407889.1:c.3047del
NM_001407894.1:c.3044del
NM_001407895.1:c.3044del
NM_001407896.1:c.3044del
NM_001407897.1:c.3044del
NM_001407898.1:c.3044del
NM_001407899.1:c.3044del
NM_001407900.1:c.3047del
NM_001407902.1:c.3047del
NM_001407904.1:c.3047del
NM_001407906.1:c.3047del
NM_001407907.1:c.3047del
NM_001407908.1:c.3047del
NM_001407909.1:c.3047del
NM_001407910.1:c.3047del
NM_001407915.1:c.3044del
NM_001407916.1:c.3044del
NM_001407917.1:c.3044del
NM_001407918.1:c.3044del
NM_001407919.1:c.3134del
NM_001407920.1:c.2993del
NM_001407921.1:c.2993del
NM_001407922.1:c.2993del
NM_001407923.1:c.2993del
NM_001407924.1:c.2993del
NM_001407925.1:c.2993del
NM_001407926.1:c.2993del
NM_001407927.1:c.2993del
NM_001407928.1:c.2993del
NM_001407929.1:c.2993del
NM_001407930.1:c.2990del
NM_001407931.1:c.2990del
NM_001407932.1:c.2990del
NM_001407933.1:c.2993del
NM_001407934.1:c.2990del
NM_001407935.1:c.2993del
NM_001407936.1:c.2990del
NM_001407937.1:c.3134del
NM_001407938.1:c.3134del
NM_001407939.1:c.3134del
NM_001407940.1:c.3131del
NM_001407941.1:c.3131del
NM_001407942.1:c.3116del
NM_001407943.1:c.3113del
NM_001407944.1:c.3116del
NM_001407945.1:c.3116del
NM_001407946.1:c.2924del
NM_001407947.1:c.2924del
NM_001407948.1:c.2924del
NM_001407949.1:c.2924del
NM_001407950.1:c.2924del
NM_001407951.1:c.2924del
NM_001407952.1:c.2924del
NM_001407953.1:c.2924del
NM_001407954.1:c.2921del
NM_001407955.1:c.2921del
NM_001407956.1:c.2921del
NM_001407957.1:c.2924del
NM_001407958.1:c.2921del
NM_001407959.1:c.2876del
NM_001407960.1:c.2876del
NM_001407962.1:c.2873del
NM_001407963.1:c.2876del
NM_001407964.1:c.3113del
NM_001407965.1:c.2753del
NM_001407966.1:c.2369del
NM_001407967.1:c.2369del
NM_001407968.1:c.788-135del
NM_001407969.1:c.788-135del
NM_001407970.1:c.788-1242del
NM_001407971.1:c.788-1242del
NM_001407972.1:c.785-1242del
NM_001407973.1:c.788-1242del
NM_001407974.1:c.788-1242del
NM_001407975.1:c.788-1242del
NM_001407976.1:c.788-1242del
NM_001407977.1:c.788-1242del
NM_001407978.1:c.788-1242del
NM_001407979.1:c.788-1242del
NM_001407980.1:c.788-1242del
NM_001407981.1:c.788-1242del
NM_001407982.1:c.788-1242del
NM_001407983.1:c.788-1242del
NM_001407984.1:c.785-1242del
NM_001407985.1:c.785-1242del
NM_001407986.1:c.785-1242del
NM_001407990.1:c.788-1242del
NM_001407991.1:c.785-1242del
NM_001407992.1:c.785-1242del
NM_001407993.1:c.788-1242del
NM_001408392.1:c.785-1242del
NM_001408396.1:c.785-1242del
NM_001408397.1:c.785-1242del
NM_001408398.1:c.785-1242del
NM_001408399.1:c.785-1242del
NM_001408400.1:c.785-1242del
NM_001408401.1:c.785-1242del
NM_001408402.1:c.785-1242del
NM_001408403.1:c.788-1242del
NM_001408404.1:c.788-1242del
NM_001408406.1:c.791-1251del
NM_001408407.1:c.785-1242del
NM_001408408.1:c.779-1242del
NM_001408409.1:c.710-1242del
NM_001408410.1:c.647-1242del
NM_001408411.1:c.710-1242del
NM_001408412.1:c.710-1242del
NM_001408413.1:c.707-1242del
NM_001408414.1:c.710-1242del
NM_001408415.1:c.710-1242del
NM_001408416.1:c.707-1242del
NM_001408418.1:c.671-1242del
NM_001408419.1:c.671-1242del
NM_001408420.1:c.671-1242del
NM_001408421.1:c.668-1242del
NM_001408422.1:c.671-1242del
NM_001408423.1:c.671-1242del
NM_001408424.1:c.668-1242del
NM_001408425.1:c.665-1242del
NM_001408426.1:c.665-1242del
NM_001408427.1:c.665-1242del
NM_001408428.1:c.665-1242del
NM_001408429.1:c.665-1242del
NM_001408430.1:c.665-1242del
NM_001408431.1:c.668-1242del
NM_001408432.1:c.662-1242del
NM_001408433.1:c.662-1242del
NM_001408434.1:c.662-1242del
NM_001408435.1:c.662-1242del
NM_001408436.1:c.665-1242del
NM_001408437.1:c.665-1242del
NM_001408438.1:c.665-1242del
NM_001408439.1:c.665-1242del
NM_001408440.1:c.665-1242del
NM_001408441.1:c.665-1242del
NM_001408442.1:c.665-1242del
NM_001408443.1:c.665-1242del
NM_001408444.1:c.665-1242del
NM_001408445.1:c.662-1242del
NM_001408446.1:c.662-1242del
NM_001408447.1:c.662-1242del
NM_001408448.1:c.662-1242del
NM_001408450.1:c.662-1242del
NM_001408451.1:c.653-1242del
NM_001408452.1:c.647-1242del
NM_001408453.1:c.647-1242del
NM_001408454.1:c.647-1242del
NM_001408455.1:c.647-1242del
NM_001408456.1:c.647-1242del
NM_001408457.1:c.647-1242del
NM_001408458.1:c.647-1242del
NM_001408459.1:c.647-1242del
NM_001408460.1:c.647-1242del
NM_001408461.1:c.647-1242del
NM_001408462.1:c.644-1242del
NM_001408463.1:c.644-1242del
NM_001408464.1:c.644-1242del
NM_001408465.1:c.644-1242del
NM_001408466.1:c.647-1242del
NM_001408467.1:c.647-1242del
NM_001408468.1:c.644-1242del
NM_001408469.1:c.647-1242del
NM_001408470.1:c.644-1242del
NM_001408472.1:c.788-1242del
NM_001408473.1:c.785-1242del
NM_001408474.1:c.587-1242del
NM_001408475.1:c.584-1242del
NM_001408476.1:c.587-1242del
NM_001408478.1:c.578-1242del
NM_001408479.1:c.578-1242del
NM_001408480.1:c.578-1242del
NM_001408481.1:c.578-1242del
NM_001408482.1:c.578-1242del
NM_001408483.1:c.578-1242del
NM_001408484.1:c.578-1242del
NM_001408485.1:c.578-1242del
NM_001408489.1:c.578-1242del
NM_001408490.1:c.575-1242del
NM_001408491.1:c.575-1242del
NM_001408492.1:c.578-1242del
NM_001408493.1:c.575-1242del
NM_001408494.1:c.548-1242del
NM_001408495.1:c.545-1242del
NM_001408496.1:c.524-1242del
NM_001408497.1:c.524-1242del
NM_001408498.1:c.524-1242del
NM_001408499.1:c.524-1242del
NM_001408500.1:c.524-1242del
NM_001408501.1:c.524-1242del
NM_001408502.1:c.455-1242del
NM_001408503.1:c.521-1242del
NM_001408504.1:c.521-1242del
NM_001408505.1:c.521-1242del
NM_001408506.1:c.461-1242del
NM_001408507.1:c.461-1242del
NM_001408508.1:c.452-1242del
NM_001408509.1:c.452-1242del
NM_001408510.1:c.407-1242del
NM_001408511.1:c.404-1242del
NM_001408512.1:c.284-1242del
NM_001408513.1:c.578-1242del
NM_001408514.1:c.578-1242del
NM_007294.4:c.3257delMANE SELECT
NM_007297.4:c.3116del
NM_007298.4:c.788-1242del
NM_007299.4:c.788-1242del
NM_007300.4:c.3257del
NP_001394500.1:p.Arg1014_Leu1015insTer
NP_001394510.1:p.Arg1085_Leu1086insTer
NP_001394511.1:p.Arg1085_Leu1086insTer
NP_001394512.1:p.Arg1085_Leu1086insTer
NP_001394514.1:p.Arg1085_Leu1086insTer
NP_001394516.1:p.Arg1084_Leu1085insTer
NP_001394519.1:p.Arg1084_Leu1085insTer
NP_001394520.1:p.Arg1084_Leu1085insTer
NP_001394522.1:p.Arg1085_Leu1086insTer
NP_001394523.1:p.Arg1085_Leu1086insTer
NP_001394525.1:p.Arg1085_Leu1086insTer
NP_001394526.1:p.Arg1085_Leu1086insTer
NP_001394527.1:p.Arg1085_Leu1086insTer
NP_001394531.1:p.Arg1085_Leu1086insTer
NP_001394532.1:p.Arg1085_Leu1086insTer
NP_001394534.1:p.Arg1085_Leu1086insTer
NP_001394539.1:p.Arg1084_Leu1085insTer
NP_001394540.1:p.Arg1084_Leu1085insTer
NP_001394541.1:p.Arg1084_Leu1085insTer
NP_001394542.1:p.Arg1084_Leu1085insTer
NP_001394543.1:p.Arg1084_Leu1085insTer
NP_001394544.1:p.Arg1084_Leu1085insTer
NP_001394545.1:p.Arg1085_Leu1086insTer
NP_001394546.1:p.Arg1085_Leu1086insTer
NP_001394547.1:p.Arg1085_Leu1086insTer
NP_001394548.1:p.Arg1085_Leu1086insTer
NP_001394549.1:p.Arg1085_Leu1086insTer
NP_001394550.1:p.Arg1085_Leu1086insTer
NP_001394551.1:p.Arg1085_Leu1086insTer
NP_001394552.1:p.Arg1085_Leu1086insTer
NP_001394553.1:p.Arg1085_Leu1086insTer
NP_001394554.1:p.Arg1085_Leu1086insTer
NP_001394555.1:p.Arg1085_Leu1086insTer
NP_001394556.1:p.Arg1084_Leu1085insTer
NP_001394557.1:p.Arg1084_Leu1085insTer
NP_001394558.1:p.Arg1084_Leu1085insTer
NP_001394559.1:p.Arg1084_Leu1085insTer
NP_001394560.1:p.Arg1084_Leu1085insTer
NP_001394561.1:p.Arg1084_Leu1085insTer
NP_001394562.1:p.Arg1084_Leu1085insTer
NP_001394563.1:p.Arg1084_Leu1085insTer
NP_001394564.1:p.Arg1084_Leu1085insTer
NP_001394565.1:p.Arg1084_Leu1085insTer
NP_001394566.1:p.Arg1084_Leu1085insTer
NP_001394567.1:p.Arg1084_Leu1085insTer
NP_001394568.1:p.Arg1085_Leu1086insTer
NP_001394569.1:p.Arg1085_Leu1086insTer
NP_001394570.1:p.Arg1085_Leu1086insTer
NP_001394571.1:p.Arg1085_Leu1086insTer
NP_001394573.1:p.Arg1084_Leu1085insTer
NP_001394574.1:p.Arg1084_Leu1085insTer
NP_001394575.1:p.Arg1082_Leu1083insTer
NP_001394576.1:p.Arg1082_Leu1083insTer
NP_001394577.1:p.Arg1044_Leu1045insTer
NP_001394578.1:p.Arg1043_Leu1044insTer
NP_001394581.1:p.Arg1085_Leu1086insTer
NP_001394582.1:p.Arg1059_Leu1060insTer
NP_001394583.1:p.Arg1059_Leu1060insTer
NP_001394584.1:p.Arg1059_Leu1060insTer
NP_001394585.1:p.Arg1059_Leu1060insTer
NP_001394586.1:p.Arg1059_Leu1060insTer
NP_001394587.1:p.Arg1059_Leu1060insTer
NP_001394588.1:p.Arg1058_Leu1059insTer
NP_001394589.1:p.Arg1058_Leu1059insTer
NP_001394590.1:p.Arg1058_Leu1059insTer
NP_001394591.1:p.Arg1058_Leu1059insTer
NP_001394592.1:p.Arg1059_Leu1060insTer
NP_001394593.1:p.Arg1044_Leu1045insTer
NP_001394594.1:p.Arg1044_Leu1045insTer
NP_001394595.1:p.Arg1044_Leu1045insTer
NP_001394596.1:p.Arg1044_Leu1045insTer
NP_001394597.1:p.Arg1044_Leu1045insTer
NP_001394598.1:p.Arg1044_Leu1045insTer
NP_001394599.1:p.Arg1043_Leu1044insTer
NP_001394600.1:p.Arg1043_Leu1044insTer
NP_001394601.1:p.Arg1043_Leu1044insTer
NP_001394602.1:p.Arg1043_Leu1044insTer
NP_001394603.1:p.Arg1044_Leu1045insTer
NP_001394604.1:p.Arg1044_Leu1045insTer
NP_001394605.1:p.Arg1044_Leu1045insTer
NP_001394606.1:p.Arg1044_Leu1045insTer
NP_001394607.1:p.Arg1044_Leu1045insTer
NP_001394608.1:p.Arg1044_Leu1045insTer
NP_001394609.1:p.Arg1044_Leu1045insTer
NP_001394610.1:p.Arg1044_Leu1045insTer
NP_001394611.1:p.Arg1044_Leu1045insTer
NP_001394612.1:p.Arg1044_Leu1045insTer
NP_001394613.1:p.Arg1085_Leu1086insTer
NP_001394614.1:p.Arg1043_Leu1044insTer
NP_001394615.1:p.Arg1043_Leu1044insTer
NP_001394616.1:p.Arg1043_Leu1044insTer
NP_001394617.1:p.Arg1043_Leu1044insTer
NP_001394618.1:p.Arg1043_Leu1044insTer
NP_001394619.1:p.Arg1043_Leu1044insTer
NP_001394620.1:p.Arg1043_Leu1044insTer
NP_001394621.1:p.Arg1038_Leu1039insTer
NP_001394623.1:p.Arg1038_Leu1039insTer
NP_001394624.1:p.Arg1038_Leu1039insTer
NP_001394625.1:p.Arg1038_Leu1039insTer
NP_001394626.1:p.Arg1038_Leu1039insTer
NP_001394627.1:p.Arg1038_Leu1039insTer
NP_001394653.1:p.Arg1038_Leu1039insTer
NP_001394654.1:p.Arg1038_Leu1039insTer
NP_001394655.1:p.Arg1038_Leu1039insTer
NP_001394656.1:p.Arg1038_Leu1039insTer
NP_001394657.1:p.Arg1038_Leu1039insTer
NP_001394658.1:p.Arg1038_Leu1039insTer
NP_001394659.1:p.Arg1038_Leu1039insTer
NP_001394660.1:p.Arg1038_Leu1039insTer
NP_001394661.1:p.Arg1038_Leu1039insTer
NP_001394662.1:p.Arg1038_Leu1039insTer
NP_001394663.1:p.Arg1038_Leu1039insTer
NP_001394664.1:p.Arg1038_Leu1039insTer
NP_001394665.1:p.Arg1038_Leu1039insTer
NP_001394666.1:p.Arg1038_Leu1039insTer
NP_001394667.1:p.Arg1038_Leu1039insTer
NP_001394668.1:p.Arg1038_Leu1039insTer
NP_001394669.1:p.Arg1037_Leu1038insTer
NP_001394670.1:p.Arg1037_Leu1038insTer
NP_001394671.1:p.Arg1037_Leu1038insTer
NP_001394672.1:p.Arg1037_Leu1038insTer
NP_001394673.1:p.Arg1037_Leu1038insTer
NP_001394674.1:p.Arg1037_Leu1038insTer
NP_001394675.1:p.Arg1037_Leu1038insTer
NP_001394676.1:p.Arg1037_Leu1038insTer
NP_001394677.1:p.Arg1037_Leu1038insTer
NP_001394678.1:p.Arg1037_Leu1038insTer
NP_001394679.1:p.Arg1038_Leu1039insTer
NP_001394680.1:p.Arg1038_Leu1039insTer
NP_001394681.1:p.Arg1038_Leu1039insTer
NP_001394767.1:p.Arg1037_Leu1038insTer
NP_001394768.1:p.Arg1037_Leu1038insTer
NP_001394770.1:p.Arg1037_Leu1038insTer
NP_001394771.1:p.Arg1037_Leu1038insTer
NP_001394772.1:p.Arg1037_Leu1038insTer
NP_001394773.1:p.Arg1037_Leu1038insTer
NP_001394774.1:p.Arg1037_Leu1038insTer
NP_001394775.1:p.Arg1037_Leu1038insTer
NP_001394776.1:p.Arg1037_Leu1038insTer
NP_001394777.1:p.Arg1037_Leu1038insTer
NP_001394778.1:p.Arg1037_Leu1038insTer
NP_001394779.1:p.Arg1038_Leu1039insTer
NP_001394780.1:p.Arg1038_Leu1039insTer
NP_001394781.1:p.Arg1038_Leu1039insTer
NP_001394782.1:p.Arg1014_Leu1015insTer
NP_001394783.1:p.Arg1085_Leu1086insTer
NP_001394787.1:p.Arg1085_Leu1086insTer
NP_001394788.1:p.Arg1085_Leu1086insTer
NP_001394789.1:p.Arg1084_Leu1085insTer
NP_001394790.1:p.Arg1084_Leu1085insTer
NP_001394791.1:p.Arg1018_Leu1019insTer
NP_001394792.1:p.Arg1044_Leu1045insTer
NP_001394803.1:p.Arg1017_Leu1018insTer
NP_001394804.1:p.Arg1017_Leu1018insTer
NP_001394808.1:p.Arg1015_Leu1016insTer
NP_001394810.1:p.Arg1015_Leu1016insTer
NP_001394811.1:p.Arg1015_Leu1016insTer
NP_001394813.1:p.Arg1015_Leu1016insTer
NP_001394814.1:p.Arg1015_Leu1016insTer
NP_001394815.1:p.Arg1015_Leu1016insTer
NP_001394816.1:p.Arg1015_Leu1016insTer
NP_001394818.1:p.Arg1015_Leu1016insTer
NP_001394823.1:p.Arg1014_Leu1015insTer
NP_001394824.1:p.Arg1014_Leu1015insTer
NP_001394825.1:p.Arg1014_Leu1015insTer
NP_001394826.1:p.Arg1014_Leu1015insTer
NP_001394827.1:p.Arg1014_Leu1015insTer
NP_001394828.1:p.Arg1014_Leu1015insTer
NP_001394829.1:p.Arg1015_Leu1016insTer
NP_001394831.1:p.Arg1015_Leu1016insTer
NP_001394833.1:p.Arg1015_Leu1016insTer
NP_001394835.1:p.Arg1015_Leu1016insTer
NP_001394836.1:p.Arg1015_Leu1016insTer
NP_001394837.1:p.Arg1015_Leu1016insTer
NP_001394838.1:p.Arg1015_Leu1016insTer
NP_001394839.1:p.Arg1015_Leu1016insTer
NP_001394844.1:p.Arg1014_Leu1015insTer
NP_001394845.1:p.Arg1014_Leu1015insTer
NP_001394846.1:p.Arg1014_Leu1015insTer
NP_001394847.1:p.Arg1014_Leu1015insTer
NP_001394848.1:p.Arg1044_Leu1045insTer
NP_001394849.1:p.Arg997_Leu998insTer
NP_001394850.1:p.Arg997_Leu998insTer
NP_001394851.1:p.Arg997_Leu998insTer
NP_001394852.1:p.Arg997_Leu998insTer
NP_001394853.1:p.Arg997_Leu998insTer
NP_001394854.1:p.Arg997_Leu998insTer
NP_001394855.1:p.Arg997_Leu998insTer
NP_001394856.1:p.Arg997_Leu998insTer
NP_001394857.1:p.Arg997_Leu998insTer
NP_001394858.1:p.Arg997_Leu998insTer
NP_001394859.1:p.Arg996_Leu997insTer
NP_001394860.1:p.Arg996_Leu997insTer
NP_001394861.1:p.Arg996_Leu997insTer
NP_001394862.1:p.Arg997_Leu998insTer
NP_001394863.1:p.Arg996_Leu997insTer
NP_001394864.1:p.Arg997_Leu998insTer
NP_001394865.1:p.Arg996_Leu997insTer
NP_001394866.1:p.Arg1044_Leu1045insTer
NP_001394867.1:p.Arg1044_Leu1045insTer
NP_001394868.1:p.Arg1044_Leu1045insTer
NP_001394869.1:p.Arg1043_Leu1044insTer
NP_001394870.1:p.Arg1043_Leu1044insTer
NP_001394871.1:p.Arg1038_Leu1039insTer
NP_001394872.1:p.Arg1037_Leu1038insTer
NP_001394873.1:p.Arg1038_Leu1039insTer
NP_001394874.1:p.Arg1038_Leu1039insTer
NP_001394875.1:p.Arg974_Leu975insTer
NP_001394876.1:p.Arg974_Leu975insTer
NP_001394877.1:p.Arg974_Leu975insTer
NP_001394878.1:p.Arg974_Leu975insTer
NP_001394879.1:p.Arg974_Leu975insTer
NP_001394880.1:p.Arg974_Leu975insTer
NP_001394881.1:p.Arg974_Leu975insTer
NP_001394882.1:p.Arg974_Leu975insTer
NP_001394883.1:p.Arg973_Leu974insTer
NP_001394884.1:p.Arg973_Leu974insTer
NP_001394885.1:p.Arg973_Leu974insTer
NP_001394886.1:p.Arg974_Leu975insTer
NP_001394887.1:p.Arg973_Leu974insTer
NP_001394888.1:p.Arg958_Leu959insTer
NP_001394889.1:p.Arg958_Leu959insTer
NP_001394891.1:p.Arg957_Leu958insTer
NP_001394892.1:p.Arg958_Leu959insTer
NP_001394893.1:p.Arg1037_Leu1038insTer
NP_001394894.1:p.Arg917_Leu918insTer
NP_001394895.1:p.Arg789_Leu790insTer
NP_001394896.1:p.Arg789_Leu790insTer
NP_009225.1:p.Arg1085_Leu1086insTer
NP_009225.1:p.Leu1086Terfs
NP_009228.2:p.Arg1038_Leu1039insTer
NP_009231.2:p.Arg1085_Leu1086insTer
LRG_292t1:c.3257del
LRG_292:g.125710del
NC_000017.10:g.41244291del
NC_000017.10:g.41244292del
NM_007294.3:c.3256delT
NM_007294.3:c.3257del
NM_007294.3:c.3257delT
NR_027676.1:n.3392delT
p.(Leu1086Ter)

Nucleotide change:

3376delT

Links:

dbSNP: rs80357858

NCBI 1000 Genomes Browser:

rs80357858

Molecular consequence:

NM_001407968.1:c.788-135del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.788-135del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.788-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-1251del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-1242del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.3044del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.3254del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.3254del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.3254del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.3254del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.3254del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.3254del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.3254del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.3254del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.3254del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.3254del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.3254del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.3254del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.3254del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.3254del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.3254del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.3254del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.3254del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.3254del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.3254del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.3254del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.3254del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.3254del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.3254del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.3248del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.3248del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.3134del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.3131del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.3179del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.3179del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.3179del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.3179del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.3179del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.3179del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.3176del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.3176del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.3176del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.3176del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.3179del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.3134del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.3134del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.3134del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.3134del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.3134del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.3134del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.3131del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.3131del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.3131del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.3131del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.3134del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.3134del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.3134del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.3134del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.3134del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.3134del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.3134del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.3134del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.3134del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.3134del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.3131del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.3131del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.3131del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.3131del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.3131del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.3131del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.3131del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.3113del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.3113del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.3113del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.3113del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.3113del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.3113del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.3113del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.3113del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.3113del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.3113del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.3113del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.3113del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.3113del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.3113del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.3113del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.3113del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.3113del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.3113del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.3113del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.3113del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.3113del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.3044del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.3254del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.3254del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.3056del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.3134del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.3053del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.3053del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.3047del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.3047del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.3047del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.3047del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.3047del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.3047del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.3047del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.3047del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.3044del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.3044del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.3044del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.3044del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.3044del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.3044del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.3047del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.3047del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.3047del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.3047del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.3047del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.3047del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.3047del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.3047del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.3044del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.3044del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.3044del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.3044del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.3134del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.2993del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.2993del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.2993del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.2993del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.2993del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.2993del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.2993del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.2993del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.2993del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.2993del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.2990del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.2990del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.2990del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.2993del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.2990del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.2993del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.2990del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.3134del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.3134del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.3134del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.3131del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.3131del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407942.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407943.1:c.3113del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407944.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407945.1:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.2924del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.2924del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.2924del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.2924del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.2924del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.2924del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.2924del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.2924del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.2921del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.2921del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.2921del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.2924del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.2921del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.2876del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.2876del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.2873del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.2876del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.3113del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.2753del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.2369del - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.2369del - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.3257del - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.3116del - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.3257del - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000297476	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (May 29, 2007)	germline	clinical testing
SCV000783601	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - ENIGMA	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2017-06-29))	Pathogenic (Dec 15, 2017)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000297476

Sharing Clinical Reports Project (SCRP)

no assertion criteria provided

Pathogenic
(May 29, 2007)

germline

clinical testing

SCV000783601

Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - ENIGMA

reviewed by expert panel

(ENIGMA BRCA1/2 Classification Criteria (2017-06-29))

Pathogenic
(Dec 15, 2017)

germline

curation

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	not provided	not provided	1	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000297476.1

#	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	not provided	1	not provided	not provided		not provided	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - ENIGMA, SCV000783601.1

#	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

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine