NM_007294.4(BRCA1):c.3759dup (p.Lys1254Ter) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (7 submissions)
Last evaluated:: Sep 8, 2016
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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

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

Record status:: current
Accession:: RCV000077130.18

Allele description [Variation Report for NM_007294.4(BRCA1):c.3759dup (p.Lys1254Ter)]

NM_007294.4(BRCA1):c.3759dup (p.Lys1254Ter)

Genes:

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

Variant type:

Duplication

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.3759dup (p.Lys1254Ter)

Other names:

NM_007300.3:c.3759dupT

HGVS:

NC_000017.11:g.43091772dup
NG_005905.2:g.126212dup
NG_087068.1:g.754dup
NM_001407571.1:c.3546dup
NM_001407581.1:c.3759dup
NM_001407582.1:c.3759dup
NM_001407583.1:c.3759dup
NM_001407585.1:c.3759dup
NM_001407587.1:c.3756dup
NM_001407590.1:c.3756dup
NM_001407591.1:c.3756dup
NM_001407593.1:c.3759dup
NM_001407594.1:c.3759dup
NM_001407596.1:c.3759dup
NM_001407597.1:c.3759dup
NM_001407598.1:c.3759dup
NM_001407602.1:c.3759dup
NM_001407603.1:c.3759dup
NM_001407605.1:c.3759dup
NM_001407610.1:c.3756dup
NM_001407611.1:c.3756dup
NM_001407612.1:c.3756dup
NM_001407613.1:c.3756dup
NM_001407614.1:c.3756dup
NM_001407615.1:c.3756dup
NM_001407616.1:c.3759dup
NM_001407617.1:c.3759dup
NM_001407618.1:c.3759dup
NM_001407619.1:c.3759dup
NM_001407620.1:c.3759dup
NM_001407621.1:c.3759dup
NM_001407622.1:c.3759dup
NM_001407623.1:c.3759dup
NM_001407624.1:c.3759dup
NM_001407625.1:c.3759dup
NM_001407626.1:c.3759dup
NM_001407627.1:c.3756dup
NM_001407628.1:c.3756dup
NM_001407629.1:c.3756dup
NM_001407630.1:c.3756dup
NM_001407631.1:c.3756dup
NM_001407632.1:c.3756dup
NM_001407633.1:c.3756dup
NM_001407634.1:c.3756dup
NM_001407635.1:c.3756dup
NM_001407636.1:c.3756dup
NM_001407637.1:c.3756dup
NM_001407638.1:c.3756dup
NM_001407639.1:c.3759dup
NM_001407640.1:c.3759dup
NM_001407641.1:c.3759dup
NM_001407642.1:c.3759dup
NM_001407644.1:c.3756dup
NM_001407645.1:c.3756dup
NM_001407646.1:c.3750dup
NM_001407647.1:c.3750dup
NM_001407648.1:c.3636dup
NM_001407649.1:c.3633dup
NM_001407652.1:c.3759dup
NM_001407653.1:c.3681dup
NM_001407654.1:c.3681dup
NM_001407655.1:c.3681dup
NM_001407656.1:c.3681dup
NM_001407657.1:c.3681dup
NM_001407658.1:c.3681dup
NM_001407659.1:c.3678dup
NM_001407660.1:c.3678dup
NM_001407661.1:c.3678dup
NM_001407662.1:c.3678dup
NM_001407663.1:c.3681dup
NM_001407664.1:c.3636dup
NM_001407665.1:c.3636dup
NM_001407666.1:c.3636dup
NM_001407667.1:c.3636dup
NM_001407668.1:c.3636dup
NM_001407669.1:c.3636dup
NM_001407670.1:c.3633dup
NM_001407671.1:c.3633dup
NM_001407672.1:c.3633dup
NM_001407673.1:c.3633dup
NM_001407674.1:c.3636dup
NM_001407675.1:c.3636dup
NM_001407676.1:c.3636dup
NM_001407677.1:c.3636dup
NM_001407678.1:c.3636dup
NM_001407679.1:c.3636dup
NM_001407680.1:c.3636dup
NM_001407681.1:c.3636dup
NM_001407682.1:c.3636dup
NM_001407683.1:c.3636dup
NM_001407684.1:c.3759dup
NM_001407685.1:c.3633dup
NM_001407686.1:c.3633dup
NM_001407687.1:c.3633dup
NM_001407688.1:c.3633dup
NM_001407689.1:c.3633dup
NM_001407690.1:c.3633dup
NM_001407691.1:c.3633dup
NM_001407692.1:c.3618dup
NM_001407694.1:c.3618dup
NM_001407695.1:c.3618dup
NM_001407696.1:c.3618dup
NM_001407697.1:c.3618dup
NM_001407698.1:c.3618dup
NM_001407724.1:c.3618dup
NM_001407725.1:c.3618dup
NM_001407726.1:c.3618dup
NM_001407727.1:c.3618dup
NM_001407728.1:c.3618dup
NM_001407729.1:c.3618dup
NM_001407730.1:c.3618dup
NM_001407731.1:c.3618dup
NM_001407732.1:c.3618dup
NM_001407733.1:c.3618dup
NM_001407734.1:c.3618dup
NM_001407735.1:c.3618dup
NM_001407736.1:c.3618dup
NM_001407737.1:c.3618dup
NM_001407738.1:c.3618dup
NM_001407739.1:c.3618dup
NM_001407740.1:c.3615dup
NM_001407741.1:c.3615dup
NM_001407742.1:c.3615dup
NM_001407743.1:c.3615dup
NM_001407744.1:c.3615dup
NM_001407745.1:c.3615dup
NM_001407746.1:c.3615dup
NM_001407747.1:c.3615dup
NM_001407748.1:c.3615dup
NM_001407749.1:c.3615dup
NM_001407750.1:c.3618dup
NM_001407751.1:c.3618dup
NM_001407752.1:c.3618dup
NM_001407838.1:c.3615dup
NM_001407839.1:c.3615dup
NM_001407841.1:c.3615dup
NM_001407842.1:c.3615dup
NM_001407843.1:c.3615dup
NM_001407844.1:c.3615dup
NM_001407845.1:c.3615dup
NM_001407846.1:c.3615dup
NM_001407847.1:c.3615dup
NM_001407848.1:c.3615dup
NM_001407849.1:c.3615dup
NM_001407850.1:c.3618dup
NM_001407851.1:c.3618dup
NM_001407852.1:c.3618dup
NM_001407853.1:c.3546dup
NM_001407854.1:c.3759dup
NM_001407858.1:c.3759dup
NM_001407859.1:c.3759dup
NM_001407860.1:c.3756dup
NM_001407861.1:c.3756dup
NM_001407862.1:c.3558dup
NM_001407863.1:c.3636dup
NM_001407874.1:c.3555dup
NM_001407875.1:c.3555dup
NM_001407879.1:c.3549dup
NM_001407881.1:c.3549dup
NM_001407882.1:c.3549dup
NM_001407884.1:c.3549dup
NM_001407885.1:c.3549dup
NM_001407886.1:c.3549dup
NM_001407887.1:c.3549dup
NM_001407889.1:c.3549dup
NM_001407894.1:c.3546dup
NM_001407895.1:c.3546dup
NM_001407896.1:c.3546dup
NM_001407897.1:c.3546dup
NM_001407898.1:c.3546dup
NM_001407899.1:c.3546dup
NM_001407900.1:c.3549dup
NM_001407902.1:c.3549dup
NM_001407904.1:c.3549dup
NM_001407906.1:c.3549dup
NM_001407907.1:c.3549dup
NM_001407908.1:c.3549dup
NM_001407909.1:c.3549dup
NM_001407910.1:c.3549dup
NM_001407915.1:c.3546dup
NM_001407916.1:c.3546dup
NM_001407917.1:c.3546dup
NM_001407918.1:c.3546dup
NM_001407919.1:c.3636dup
NM_001407920.1:c.3495dup
NM_001407921.1:c.3495dup
NM_001407922.1:c.3495dup
NM_001407923.1:c.3495dup
NM_001407924.1:c.3495dup
NM_001407925.1:c.3495dup
NM_001407926.1:c.3495dup
NM_001407927.1:c.3495dup
NM_001407928.1:c.3495dup
NM_001407929.1:c.3495dup
NM_001407930.1:c.3492dup
NM_001407931.1:c.3492dup
NM_001407932.1:c.3492dup
NM_001407933.1:c.3495dup
NM_001407934.1:c.3492dup
NM_001407935.1:c.3495dup
NM_001407936.1:c.3492dup
NM_001407937.1:c.3636dup
NM_001407938.1:c.3636dup
NM_001407939.1:c.3636dup
NM_001407940.1:c.3633dup
NM_001407941.1:c.3633dup
NM_001407942.1:c.3618dup
NM_001407943.1:c.3615dup
NM_001407944.1:c.3618dup
NM_001407945.1:c.3618dup
NM_001407946.1:c.3426dup
NM_001407947.1:c.3426dup
NM_001407948.1:c.3426dup
NM_001407949.1:c.3426dup
NM_001407950.1:c.3426dup
NM_001407951.1:c.3426dup
NM_001407952.1:c.3426dup
NM_001407953.1:c.3426dup
NM_001407954.1:c.3423dup
NM_001407955.1:c.3423dup
NM_001407956.1:c.3423dup
NM_001407957.1:c.3426dup
NM_001407958.1:c.3423dup
NM_001407959.1:c.3378dup
NM_001407960.1:c.3378dup
NM_001407962.1:c.3375dup
NM_001407963.1:c.3378dup
NM_001407964.1:c.3615dup
NM_001407965.1:c.3255dup
NM_001407966.1:c.2871dup
NM_001407967.1:c.2871dup
NM_001407968.1:c.1155dup
NM_001407969.1:c.1155dup
NM_001407970.1:c.788-740dup
NM_001407971.1:c.788-740dup
NM_001407972.1:c.785-740dup
NM_001407973.1:c.788-740dup
NM_001407974.1:c.788-740dup
NM_001407975.1:c.788-740dup
NM_001407976.1:c.788-740dup
NM_001407977.1:c.788-740dup
NM_001407978.1:c.788-740dup
NM_001407979.1:c.788-740dup
NM_001407980.1:c.788-740dup
NM_001407981.1:c.788-740dup
NM_001407982.1:c.788-740dup
NM_001407983.1:c.788-740dup
NM_001407984.1:c.785-740dup
NM_001407985.1:c.785-740dup
NM_001407986.1:c.785-740dup
NM_001407990.1:c.788-740dup
NM_001407991.1:c.785-740dup
NM_001407992.1:c.785-740dup
NM_001407993.1:c.788-740dup
NM_001408392.1:c.785-740dup
NM_001408396.1:c.785-740dup
NM_001408397.1:c.785-740dup
NM_001408398.1:c.785-740dup
NM_001408399.1:c.785-740dup
NM_001408400.1:c.785-740dup
NM_001408401.1:c.785-740dup
NM_001408402.1:c.785-740dup
NM_001408403.1:c.788-740dup
NM_001408404.1:c.788-740dup
NM_001408406.1:c.791-749dup
NM_001408407.1:c.785-740dup
NM_001408408.1:c.779-740dup
NM_001408409.1:c.710-740dup
NM_001408410.1:c.647-740dup
NM_001408411.1:c.710-740dup
NM_001408412.1:c.710-740dup
NM_001408413.1:c.707-740dup
NM_001408414.1:c.710-740dup
NM_001408415.1:c.710-740dup
NM_001408416.1:c.707-740dup
NM_001408418.1:c.671-740dup
NM_001408419.1:c.671-740dup
NM_001408420.1:c.671-740dup
NM_001408421.1:c.668-740dup
NM_001408422.1:c.671-740dup
NM_001408423.1:c.671-740dup
NM_001408424.1:c.668-740dup
NM_001408425.1:c.665-740dup
NM_001408426.1:c.665-740dup
NM_001408427.1:c.665-740dup
NM_001408428.1:c.665-740dup
NM_001408429.1:c.665-740dup
NM_001408430.1:c.665-740dup
NM_001408431.1:c.668-740dup
NM_001408432.1:c.662-740dup
NM_001408433.1:c.662-740dup
NM_001408434.1:c.662-740dup
NM_001408435.1:c.662-740dup
NM_001408436.1:c.665-740dup
NM_001408437.1:c.665-740dup
NM_001408438.1:c.665-740dup
NM_001408439.1:c.665-740dup
NM_001408440.1:c.665-740dup
NM_001408441.1:c.665-740dup
NM_001408442.1:c.665-740dup
NM_001408443.1:c.665-740dup
NM_001408444.1:c.665-740dup
NM_001408445.1:c.662-740dup
NM_001408446.1:c.662-740dup
NM_001408447.1:c.662-740dup
NM_001408448.1:c.662-740dup
NM_001408450.1:c.662-740dup
NM_001408451.1:c.653-740dup
NM_001408452.1:c.647-740dup
NM_001408453.1:c.647-740dup
NM_001408454.1:c.647-740dup
NM_001408455.1:c.647-740dup
NM_001408456.1:c.647-740dup
NM_001408457.1:c.647-740dup
NM_001408458.1:c.647-740dup
NM_001408459.1:c.647-740dup
NM_001408460.1:c.647-740dup
NM_001408461.1:c.647-740dup
NM_001408462.1:c.644-740dup
NM_001408463.1:c.644-740dup
NM_001408464.1:c.644-740dup
NM_001408465.1:c.644-740dup
NM_001408466.1:c.647-740dup
NM_001408467.1:c.647-740dup
NM_001408468.1:c.644-740dup
NM_001408469.1:c.647-740dup
NM_001408470.1:c.644-740dup
NM_001408472.1:c.788-740dup
NM_001408473.1:c.785-740dup
NM_001408474.1:c.587-740dup
NM_001408475.1:c.584-740dup
NM_001408476.1:c.587-740dup
NM_001408478.1:c.578-740dup
NM_001408479.1:c.578-740dup
NM_001408480.1:c.578-740dup
NM_001408481.1:c.578-740dup
NM_001408482.1:c.578-740dup
NM_001408483.1:c.578-740dup
NM_001408484.1:c.578-740dup
NM_001408485.1:c.578-740dup
NM_001408489.1:c.578-740dup
NM_001408490.1:c.575-740dup
NM_001408491.1:c.575-740dup
NM_001408492.1:c.578-740dup
NM_001408493.1:c.575-740dup
NM_001408494.1:c.548-740dup
NM_001408495.1:c.545-740dup
NM_001408496.1:c.524-740dup
NM_001408497.1:c.524-740dup
NM_001408498.1:c.524-740dup
NM_001408499.1:c.524-740dup
NM_001408500.1:c.524-740dup
NM_001408501.1:c.524-740dup
NM_001408502.1:c.455-740dup
NM_001408503.1:c.521-740dup
NM_001408504.1:c.521-740dup
NM_001408505.1:c.521-740dup
NM_001408506.1:c.461-740dup
NM_001408507.1:c.461-740dup
NM_001408508.1:c.452-740dup
NM_001408509.1:c.452-740dup
NM_001408510.1:c.407-740dup
NM_001408511.1:c.404-740dup
NM_001408512.1:c.284-740dup
NM_001408513.1:c.578-740dup
NM_001408514.1:c.578-740dup
NM_007294.4:c.3759dupMANE SELECT
NM_007297.4:c.3618dup
NM_007298.4:c.788-740dup
NM_007299.4:c.788-740dup
NM_007300.4:c.3759dup
NP_001394500.1:p.Lys1183Ter
NP_001394510.1:p.Lys1254Ter
NP_001394511.1:p.Lys1254Ter
NP_001394512.1:p.Lys1254Ter
NP_001394514.1:p.Lys1254Ter
NP_001394516.1:p.Lys1253Ter
NP_001394519.1:p.Lys1253Ter
NP_001394520.1:p.Lys1253Ter
NP_001394522.1:p.Lys1254Ter
NP_001394523.1:p.Lys1254Ter
NP_001394525.1:p.Lys1254Ter
NP_001394526.1:p.Lys1254Ter
NP_001394527.1:p.Lys1254Ter
NP_001394531.1:p.Lys1254Ter
NP_001394532.1:p.Lys1254Ter
NP_001394534.1:p.Lys1254Ter
NP_001394539.1:p.Lys1253Ter
NP_001394540.1:p.Lys1253Ter
NP_001394541.1:p.Lys1253Ter
NP_001394542.1:p.Lys1253Ter
NP_001394543.1:p.Lys1253Ter
NP_001394544.1:p.Lys1253Ter
NP_001394545.1:p.Lys1254Ter
NP_001394546.1:p.Lys1254Ter
NP_001394547.1:p.Lys1254Ter
NP_001394548.1:p.Lys1254Ter
NP_001394549.1:p.Lys1254Ter
NP_001394550.1:p.Lys1254Ter
NP_001394551.1:p.Lys1254Ter
NP_001394552.1:p.Lys1254Ter
NP_001394553.1:p.Lys1254Ter
NP_001394554.1:p.Lys1254Ter
NP_001394555.1:p.Lys1254Ter
NP_001394556.1:p.Lys1253Ter
NP_001394557.1:p.Lys1253Ter
NP_001394558.1:p.Lys1253Ter
NP_001394559.1:p.Lys1253Ter
NP_001394560.1:p.Lys1253Ter
NP_001394561.1:p.Lys1253Ter
NP_001394562.1:p.Lys1253Ter
NP_001394563.1:p.Lys1253Ter
NP_001394564.1:p.Lys1253Ter
NP_001394565.1:p.Lys1253Ter
NP_001394566.1:p.Lys1253Ter
NP_001394567.1:p.Lys1253Ter
NP_001394568.1:p.Lys1254Ter
NP_001394569.1:p.Lys1254Ter
NP_001394570.1:p.Lys1254Ter
NP_001394571.1:p.Lys1254Ter
NP_001394573.1:p.Lys1253Ter
NP_001394574.1:p.Lys1253Ter
NP_001394575.1:p.Lys1251Ter
NP_001394576.1:p.Lys1251Ter
NP_001394577.1:p.Lys1213Ter
NP_001394578.1:p.Lys1212Ter
NP_001394581.1:p.Lys1254Ter
NP_001394582.1:p.Lys1228Ter
NP_001394583.1:p.Lys1228Ter
NP_001394584.1:p.Lys1228Ter
NP_001394585.1:p.Lys1228Ter
NP_001394586.1:p.Lys1228Ter
NP_001394587.1:p.Lys1228Ter
NP_001394588.1:p.Lys1227Ter
NP_001394589.1:p.Lys1227Ter
NP_001394590.1:p.Lys1227Ter
NP_001394591.1:p.Lys1227Ter
NP_001394592.1:p.Lys1228Ter
NP_001394593.1:p.Lys1213Ter
NP_001394594.1:p.Lys1213Ter
NP_001394595.1:p.Lys1213Ter
NP_001394596.1:p.Lys1213Ter
NP_001394597.1:p.Lys1213Ter
NP_001394598.1:p.Lys1213Ter
NP_001394599.1:p.Lys1212Ter
NP_001394600.1:p.Lys1212Ter
NP_001394601.1:p.Lys1212Ter
NP_001394602.1:p.Lys1212Ter
NP_001394603.1:p.Lys1213Ter
NP_001394604.1:p.Lys1213Ter
NP_001394605.1:p.Lys1213Ter
NP_001394606.1:p.Lys1213Ter
NP_001394607.1:p.Lys1213Ter
NP_001394608.1:p.Lys1213Ter
NP_001394609.1:p.Lys1213Ter
NP_001394610.1:p.Lys1213Ter
NP_001394611.1:p.Lys1213Ter
NP_001394612.1:p.Lys1213Ter
NP_001394613.1:p.Lys1254Ter
NP_001394614.1:p.Lys1212Ter
NP_001394615.1:p.Lys1212Ter
NP_001394616.1:p.Lys1212Ter
NP_001394617.1:p.Lys1212Ter
NP_001394618.1:p.Lys1212Ter
NP_001394619.1:p.Lys1212Ter
NP_001394620.1:p.Lys1212Ter
NP_001394621.1:p.Lys1207Ter
NP_001394623.1:p.Lys1207Ter
NP_001394624.1:p.Lys1207Ter
NP_001394625.1:p.Lys1207Ter
NP_001394626.1:p.Lys1207Ter
NP_001394627.1:p.Lys1207Ter
NP_001394653.1:p.Lys1207Ter
NP_001394654.1:p.Lys1207Ter
NP_001394655.1:p.Lys1207Ter
NP_001394656.1:p.Lys1207Ter
NP_001394657.1:p.Lys1207Ter
NP_001394658.1:p.Lys1207Ter
NP_001394659.1:p.Lys1207Ter
NP_001394660.1:p.Lys1207Ter
NP_001394661.1:p.Lys1207Ter
NP_001394662.1:p.Lys1207Ter
NP_001394663.1:p.Lys1207Ter
NP_001394664.1:p.Lys1207Ter
NP_001394665.1:p.Lys1207Ter
NP_001394666.1:p.Lys1207Ter
NP_001394667.1:p.Lys1207Ter
NP_001394668.1:p.Lys1207Ter
NP_001394669.1:p.Lys1206Ter
NP_001394670.1:p.Lys1206Ter
NP_001394671.1:p.Lys1206Ter
NP_001394672.1:p.Lys1206Ter
NP_001394673.1:p.Lys1206Ter
NP_001394674.1:p.Lys1206Ter
NP_001394675.1:p.Lys1206Ter
NP_001394676.1:p.Lys1206Ter
NP_001394677.1:p.Lys1206Ter
NP_001394678.1:p.Lys1206Ter
NP_001394679.1:p.Lys1207Ter
NP_001394680.1:p.Lys1207Ter
NP_001394681.1:p.Lys1207Ter
NP_001394767.1:p.Lys1206Ter
NP_001394768.1:p.Lys1206Ter
NP_001394770.1:p.Lys1206Ter
NP_001394771.1:p.Lys1206Ter
NP_001394772.1:p.Lys1206Ter
NP_001394773.1:p.Lys1206Ter
NP_001394774.1:p.Lys1206Ter
NP_001394775.1:p.Lys1206Ter
NP_001394776.1:p.Lys1206Ter
NP_001394777.1:p.Lys1206Ter
NP_001394778.1:p.Lys1206Ter
NP_001394779.1:p.Lys1207Ter
NP_001394780.1:p.Lys1207Ter
NP_001394781.1:p.Lys1207Ter
NP_001394782.1:p.Lys1183Ter
NP_001394783.1:p.Lys1254Ter
NP_001394787.1:p.Lys1254Ter
NP_001394788.1:p.Lys1254Ter
NP_001394789.1:p.Lys1253Ter
NP_001394790.1:p.Lys1253Ter
NP_001394791.1:p.Lys1187Ter
NP_001394792.1:p.Lys1213Ter
NP_001394803.1:p.Lys1186Ter
NP_001394804.1:p.Lys1186Ter
NP_001394808.1:p.Lys1184Ter
NP_001394810.1:p.Lys1184Ter
NP_001394811.1:p.Lys1184Ter
NP_001394813.1:p.Lys1184Ter
NP_001394814.1:p.Lys1184Ter
NP_001394815.1:p.Lys1184Ter
NP_001394816.1:p.Lys1184Ter
NP_001394818.1:p.Lys1184Ter
NP_001394823.1:p.Lys1183Ter
NP_001394824.1:p.Lys1183Ter
NP_001394825.1:p.Lys1183Ter
NP_001394826.1:p.Lys1183Ter
NP_001394827.1:p.Lys1183Ter
NP_001394828.1:p.Lys1183Ter
NP_001394829.1:p.Lys1184Ter
NP_001394831.1:p.Lys1184Ter
NP_001394833.1:p.Lys1184Ter
NP_001394835.1:p.Lys1184Ter
NP_001394836.1:p.Lys1184Ter
NP_001394837.1:p.Lys1184Ter
NP_001394838.1:p.Lys1184Ter
NP_001394839.1:p.Lys1184Ter
NP_001394844.1:p.Lys1183Ter
NP_001394845.1:p.Lys1183Ter
NP_001394846.1:p.Lys1183Ter
NP_001394847.1:p.Lys1183Ter
NP_001394848.1:p.Lys1213Ter
NP_001394849.1:p.Lys1166Ter
NP_001394850.1:p.Lys1166Ter
NP_001394851.1:p.Lys1166Ter
NP_001394852.1:p.Lys1166Ter
NP_001394853.1:p.Lys1166Ter
NP_001394854.1:p.Lys1166Ter
NP_001394855.1:p.Lys1166Ter
NP_001394856.1:p.Lys1166Ter
NP_001394857.1:p.Lys1166Ter
NP_001394858.1:p.Lys1166Ter
NP_001394859.1:p.Lys1165Ter
NP_001394860.1:p.Lys1165Ter
NP_001394861.1:p.Lys1165Ter
NP_001394862.1:p.Lys1166Ter
NP_001394863.1:p.Lys1165Ter
NP_001394864.1:p.Lys1166Ter
NP_001394865.1:p.Lys1165Ter
NP_001394866.1:p.Lys1213Ter
NP_001394867.1:p.Lys1213Ter
NP_001394868.1:p.Lys1213Ter
NP_001394869.1:p.Lys1212Ter
NP_001394870.1:p.Lys1212Ter
NP_001394871.1:p.Lys1207Ter
NP_001394872.1:p.Lys1206Ter
NP_001394873.1:p.Lys1207Ter
NP_001394874.1:p.Lys1207Ter
NP_001394875.1:p.Lys1143Ter
NP_001394876.1:p.Lys1143Ter
NP_001394877.1:p.Lys1143Ter
NP_001394878.1:p.Lys1143Ter
NP_001394879.1:p.Lys1143Ter
NP_001394880.1:p.Lys1143Ter
NP_001394881.1:p.Lys1143Ter
NP_001394882.1:p.Lys1143Ter
NP_001394883.1:p.Lys1142Ter
NP_001394884.1:p.Lys1142Ter
NP_001394885.1:p.Lys1142Ter
NP_001394886.1:p.Lys1143Ter
NP_001394887.1:p.Lys1142Ter
NP_001394888.1:p.Lys1127Ter
NP_001394889.1:p.Lys1127Ter
NP_001394891.1:p.Lys1126Ter
NP_001394892.1:p.Lys1127Ter
NP_001394893.1:p.Lys1206Ter
NP_001394894.1:p.Lys1086Ter
NP_001394895.1:p.Lys958Ter
NP_001394896.1:p.Lys958Ter
NP_001394897.1:p.Lys386Ter
NP_001394898.1:p.Lys386Ter
NP_009225.1:p.Lys1254Ter
NP_009228.2:p.Lys1207Ter
NP_009231.2:p.Lys1254Ter
LRG_292t1:c.3759dup
LRG_292:g.126212dup
LRG_292p1:p.Lys1254Terfs
NC_000017.10:g.41243789dup
NC_000017.10:g.41243789dup
NC_000017.11:g.43091771_43091772insA
NM_007294.3:c.3759dupT
NR_027676.1:n.3895dup
U14680.1:n.3878_3879insT
p.Lys1254*
p.S1253SFS*2

Nucleotide change:

3878insT

Protein change:

K1086*

Links:

Breast Cancer Information Core (BIC) (BRCA1): 3878&base_change=ins T; dbSNP: rs80357687

NCBI 1000 Genomes Browser:

rs80357687

Molecular consequence:

NM_001407970.1:c.788-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-749dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-740dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407571.1:c.3546dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407581.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407582.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407583.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407585.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407587.1:c.3756dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407590.1:c.3756dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407591.1:c.3756dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407593.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407594.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407596.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407597.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407598.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407602.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407603.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407605.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407610.1:c.3756dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407611.1:c.3756dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407612.1:c.3756dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407613.1:c.3756dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407614.1:c.3756dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407615.1:c.3756dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407616.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407617.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407618.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407619.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407620.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407621.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407622.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407623.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407624.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407625.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407626.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407627.1:c.3756dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407628.1:c.3756dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407629.1:c.3756dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407630.1:c.3756dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407631.1:c.3756dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407632.1:c.3756dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407633.1:c.3756dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407634.1:c.3756dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407635.1:c.3756dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407636.1:c.3756dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407637.1:c.3756dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407638.1:c.3756dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407639.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407640.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407641.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407642.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407644.1:c.3756dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407645.1:c.3756dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407646.1:c.3750dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407647.1:c.3750dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407648.1:c.3636dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407649.1:c.3633dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407652.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407653.1:c.3681dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407654.1:c.3681dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407655.1:c.3681dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407656.1:c.3681dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407657.1:c.3681dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407658.1:c.3681dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407659.1:c.3678dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407660.1:c.3678dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407661.1:c.3678dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407662.1:c.3678dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407663.1:c.3681dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407664.1:c.3636dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407665.1:c.3636dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407666.1:c.3636dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407667.1:c.3636dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407668.1:c.3636dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407669.1:c.3636dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407670.1:c.3633dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407671.1:c.3633dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407672.1:c.3633dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407673.1:c.3633dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407674.1:c.3636dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407675.1:c.3636dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407676.1:c.3636dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407677.1:c.3636dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407678.1:c.3636dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407679.1:c.3636dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407680.1:c.3636dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407681.1:c.3636dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407682.1:c.3636dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407683.1:c.3636dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407684.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407685.1:c.3633dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407686.1:c.3633dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407687.1:c.3633dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407688.1:c.3633dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407689.1:c.3633dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407690.1:c.3633dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407691.1:c.3633dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407692.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407694.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407695.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407696.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407697.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407698.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407724.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407725.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407726.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407727.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407728.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407729.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407730.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407731.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407732.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407733.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407734.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407735.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407736.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407737.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407738.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407739.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407740.1:c.3615dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407741.1:c.3615dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407742.1:c.3615dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407743.1:c.3615dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407744.1:c.3615dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407745.1:c.3615dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407746.1:c.3615dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407747.1:c.3615dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407748.1:c.3615dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407749.1:c.3615dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407750.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407751.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407752.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407838.1:c.3615dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407839.1:c.3615dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407841.1:c.3615dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407842.1:c.3615dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407843.1:c.3615dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407844.1:c.3615dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407845.1:c.3615dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407846.1:c.3615dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407847.1:c.3615dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407848.1:c.3615dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407849.1:c.3615dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407850.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407851.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407852.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407853.1:c.3546dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407854.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407858.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407859.1:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407860.1:c.3756dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407861.1:c.3756dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407862.1:c.3558dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407863.1:c.3636dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407874.1:c.3555dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407875.1:c.3555dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407879.1:c.3549dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407881.1:c.3549dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407882.1:c.3549dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407884.1:c.3549dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407885.1:c.3549dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407886.1:c.3549dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407887.1:c.3549dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407889.1:c.3549dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407894.1:c.3546dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407895.1:c.3546dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407896.1:c.3546dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407897.1:c.3546dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407898.1:c.3546dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407899.1:c.3546dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407900.1:c.3549dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407902.1:c.3549dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407904.1:c.3549dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407906.1:c.3549dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407907.1:c.3549dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407908.1:c.3549dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407909.1:c.3549dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407910.1:c.3549dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407915.1:c.3546dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407916.1:c.3546dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407917.1:c.3546dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407918.1:c.3546dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407919.1:c.3636dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407920.1:c.3495dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407921.1:c.3495dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407922.1:c.3495dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407923.1:c.3495dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407924.1:c.3495dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407925.1:c.3495dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407926.1:c.3495dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407927.1:c.3495dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407928.1:c.3495dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407929.1:c.3495dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407930.1:c.3492dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407931.1:c.3492dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407932.1:c.3492dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407933.1:c.3495dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407934.1:c.3492dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407935.1:c.3495dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407936.1:c.3492dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407937.1:c.3636dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407938.1:c.3636dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407939.1:c.3636dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407940.1:c.3633dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407941.1:c.3633dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407942.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407943.1:c.3615dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407944.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407945.1:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407946.1:c.3426dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407947.1:c.3426dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407948.1:c.3426dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407949.1:c.3426dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407950.1:c.3426dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407951.1:c.3426dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407952.1:c.3426dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407953.1:c.3426dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407954.1:c.3423dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407955.1:c.3423dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407956.1:c.3423dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407957.1:c.3426dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407958.1:c.3423dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407959.1:c.3378dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407960.1:c.3378dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407962.1:c.3375dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407963.1:c.3378dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407964.1:c.3615dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407965.1:c.3255dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407966.1:c.2871dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407967.1:c.2871dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407968.1:c.1155dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001407969.1:c.1155dup - nonsense - [Sequence Ontology: SO:0001587]
NM_007294.4:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]
NM_007297.4:c.3618dup - nonsense - [Sequence Ontology: SO:0001587]
NM_007300.4:c.3759dup - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

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

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
SCV000108927	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (Mar 26, 2008)	germline	clinical testing
SCV000144864	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (May 29, 2002)	germline	clinical testing
SCV000296359	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Jul 8, 2015)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 9523200, 23479189, 10528853, 26467025, 26295337
SCV000300006	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Sep 8, 2016)	germline	curation	ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000325745	Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	criteria provided, single submitter (CIMBA Mutation Classification guidelines May 2016)	Pathogenic (Oct 2, 2015)	germline	clinical testing	CIMBA_Mutation_Classification_guidelines_May16.pdf, Citation Link,
SCV002589113	BRCAlab, Lund University	no assertion criteria provided	Pathogenic (Aug 26, 2022)	germline	clinical testing
SCV004211740	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 1, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	4	2	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	6	not provided	not provided	not provided	clinical testing, curation
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	1	not provided	not provided	1	not provided	clinical testing
Caucasian Non Hispanic	germline	yes	4	not provided	not provided	not provided	not provided	clinical testing
Central/Eastern European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Identification of missense and truncating mutations in the BRCA1 gene in sporadic and familial breast and ovarian cancer.

Greenman J, Mohammed S, Ellis D, Watts S, Scott G, Izatt L, Barnes D, Solomon E, Hodgson S, Mathew C.

Genes Chromosomes Cancer. 1998 Mar;21(3):244-9.

PubMed [citation]

PMID:: 9523200

Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence.

de Juan Jiménez I, García Casado Z, Palanca Suela S, Esteban Cardeñosa E, López Guerrero JA, Segura Huerta Á, Chirivella González I, Sánchez Heras AB, Juan Fita MJ, Tena García I, Guillen Ponce C, Martínez de Dueñas E, Romero Noguera I, Salas Trejo D, Goicoechea Sáez M, Bolufer Gilabert P.

Fam Cancer. 2013 Dec;12(4):767-77. doi: 10.1007/s10689-013-9622-2.

PubMed [citation]

PMID:: 23479189

See all PubMed Citations (6)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000108927.2

#	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 Breast Cancer Information Core (BIC) (BRCA1), SCV000144864.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	not provided
2	not provided	1	not provided	not provided	clinical testing	not provided
3	Caucasian Non Hispanic	4	not provided	not provided	clinical testing	not provided
4	Central/Eastern European	1	not provided	not provided	clinical testing	not provided
5	Western European	3	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		3	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		4	not provided	not provided	not provided
4	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
5	germline	yes	not provided	not provided	not provided		3	not provided	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296359.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000300006.2

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

Description

Variant allele predicted to encode a truncated non-functional protein.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325745.4

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	6	not provided

From BRCAlab, Lund University, SCV002589113.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	2	not provided

From Baylor Genetics, SCV004211740.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 2, 2024

Relating variation to medicine