NM_007294.4(BRCA1):c.4035del (p.Glu1346fs) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (17 submissions)
Last evaluated:: Apr 22, 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:: RCV000031141.35

Allele description [Variation Report for NM_007294.4(BRCA1):c.4035del (p.Glu1346fs)]

NM_007294.4(BRCA1):c.4035del (p.Glu1346fs)

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.4035del (p.Glu1346fs)

Other names:

Glu1346LysfsX20

HGVS:

NC_000017.10:g.41243513del
NC_000017.11:g.43091497del
NG_005905.2:g.126488del
NG_087068.1:g.479del
NM_001407571.1:c.3822del
NM_001407581.1:c.4035del
NM_001407582.1:c.4035del
NM_001407583.1:c.4035del
NM_001407585.1:c.4035del
NM_001407587.1:c.4032del
NM_001407590.1:c.4032del
NM_001407591.1:c.4032del
NM_001407593.1:c.4035del
NM_001407594.1:c.4035del
NM_001407596.1:c.4035del
NM_001407597.1:c.4035del
NM_001407598.1:c.4035del
NM_001407602.1:c.4035del
NM_001407603.1:c.4035del
NM_001407605.1:c.4035del
NM_001407610.1:c.4032del
NM_001407611.1:c.4032del
NM_001407612.1:c.4032del
NM_001407613.1:c.4032del
NM_001407614.1:c.4032del
NM_001407615.1:c.4032del
NM_001407616.1:c.4035del
NM_001407617.1:c.4035del
NM_001407618.1:c.4035del
NM_001407619.1:c.4035del
NM_001407620.1:c.4035del
NM_001407621.1:c.4035del
NM_001407622.1:c.4035del
NM_001407623.1:c.4035del
NM_001407624.1:c.4035del
NM_001407625.1:c.4035del
NM_001407626.1:c.4035del
NM_001407627.1:c.4032del
NM_001407628.1:c.4032del
NM_001407629.1:c.4032del
NM_001407630.1:c.4032del
NM_001407631.1:c.4032del
NM_001407632.1:c.4032del
NM_001407633.1:c.4032del
NM_001407634.1:c.4032del
NM_001407635.1:c.4032del
NM_001407636.1:c.4032del
NM_001407637.1:c.4032del
NM_001407638.1:c.4032del
NM_001407639.1:c.4035del
NM_001407640.1:c.4035del
NM_001407641.1:c.4035del
NM_001407642.1:c.4035del
NM_001407644.1:c.4032del
NM_001407645.1:c.4032del
NM_001407646.1:c.4026del
NM_001407647.1:c.4026del
NM_001407648.1:c.3912del
NM_001407649.1:c.3909del
NM_001407652.1:c.4035del
NM_001407653.1:c.3957del
NM_001407654.1:c.3957del
NM_001407655.1:c.3957del
NM_001407656.1:c.3957del
NM_001407657.1:c.3957del
NM_001407658.1:c.3957del
NM_001407659.1:c.3954del
NM_001407660.1:c.3954del
NM_001407661.1:c.3954del
NM_001407662.1:c.3954del
NM_001407663.1:c.3957del
NM_001407664.1:c.3912del
NM_001407665.1:c.3912del
NM_001407666.1:c.3912del
NM_001407667.1:c.3912del
NM_001407668.1:c.3912del
NM_001407669.1:c.3912del
NM_001407670.1:c.3909del
NM_001407671.1:c.3909del
NM_001407672.1:c.3909del
NM_001407673.1:c.3909del
NM_001407674.1:c.3912del
NM_001407675.1:c.3912del
NM_001407676.1:c.3912del
NM_001407677.1:c.3912del
NM_001407678.1:c.3912del
NM_001407679.1:c.3912del
NM_001407680.1:c.3912del
NM_001407681.1:c.3912del
NM_001407682.1:c.3912del
NM_001407683.1:c.3912del
NM_001407684.1:c.4035del
NM_001407685.1:c.3909del
NM_001407686.1:c.3909del
NM_001407687.1:c.3909del
NM_001407688.1:c.3909del
NM_001407689.1:c.3909del
NM_001407690.1:c.3909del
NM_001407691.1:c.3909del
NM_001407692.1:c.3894del
NM_001407694.1:c.3894del
NM_001407695.1:c.3894del
NM_001407696.1:c.3894del
NM_001407697.1:c.3894del
NM_001407698.1:c.3894del
NM_001407724.1:c.3894del
NM_001407725.1:c.3894del
NM_001407726.1:c.3894del
NM_001407727.1:c.3894del
NM_001407728.1:c.3894del
NM_001407729.1:c.3894del
NM_001407730.1:c.3894del
NM_001407731.1:c.3894del
NM_001407732.1:c.3894del
NM_001407733.1:c.3894del
NM_001407734.1:c.3894del
NM_001407735.1:c.3894del
NM_001407736.1:c.3894del
NM_001407737.1:c.3894del
NM_001407738.1:c.3894del
NM_001407739.1:c.3894del
NM_001407740.1:c.3891del
NM_001407741.1:c.3891del
NM_001407742.1:c.3891del
NM_001407743.1:c.3891del
NM_001407744.1:c.3891del
NM_001407745.1:c.3891del
NM_001407746.1:c.3891del
NM_001407747.1:c.3891del
NM_001407748.1:c.3891del
NM_001407749.1:c.3891del
NM_001407750.1:c.3894del
NM_001407751.1:c.3894del
NM_001407752.1:c.3894del
NM_001407838.1:c.3891del
NM_001407839.1:c.3891del
NM_001407841.1:c.3891del
NM_001407842.1:c.3891del
NM_001407843.1:c.3891del
NM_001407844.1:c.3891del
NM_001407845.1:c.3891del
NM_001407846.1:c.3891del
NM_001407847.1:c.3891del
NM_001407848.1:c.3891del
NM_001407849.1:c.3891del
NM_001407850.1:c.3894del
NM_001407851.1:c.3894del
NM_001407852.1:c.3894del
NM_001407853.1:c.3822del
NM_001407854.1:c.4035del
NM_001407858.1:c.4035del
NM_001407859.1:c.4035del
NM_001407860.1:c.4032del
NM_001407861.1:c.4032del
NM_001407862.1:c.3834del
NM_001407863.1:c.3912del
NM_001407874.1:c.3831del
NM_001407875.1:c.3831del
NM_001407879.1:c.3825del
NM_001407881.1:c.3825del
NM_001407882.1:c.3825del
NM_001407884.1:c.3825del
NM_001407885.1:c.3825del
NM_001407886.1:c.3825del
NM_001407887.1:c.3825del
NM_001407889.1:c.3825del
NM_001407894.1:c.3822del
NM_001407895.1:c.3822del
NM_001407896.1:c.3822del
NM_001407897.1:c.3822del
NM_001407898.1:c.3822del
NM_001407899.1:c.3822del
NM_001407900.1:c.3825del
NM_001407902.1:c.3825del
NM_001407904.1:c.3825del
NM_001407906.1:c.3825del
NM_001407907.1:c.3825del
NM_001407908.1:c.3825del
NM_001407909.1:c.3825del
NM_001407910.1:c.3825del
NM_001407915.1:c.3822del
NM_001407916.1:c.3822del
NM_001407917.1:c.3822del
NM_001407918.1:c.3822del
NM_001407919.1:c.3912del
NM_001407920.1:c.3771del
NM_001407921.1:c.3771del
NM_001407922.1:c.3771del
NM_001407923.1:c.3771del
NM_001407924.1:c.3771del
NM_001407925.1:c.3771del
NM_001407926.1:c.3771del
NM_001407927.1:c.3771del
NM_001407928.1:c.3771del
NM_001407929.1:c.3771del
NM_001407930.1:c.3768del
NM_001407931.1:c.3768del
NM_001407932.1:c.3768del
NM_001407933.1:c.3771del
NM_001407934.1:c.3768del
NM_001407935.1:c.3771del
NM_001407936.1:c.3768del
NM_001407937.1:c.3912del
NM_001407938.1:c.3912del
NM_001407939.1:c.3912del
NM_001407940.1:c.3909del
NM_001407941.1:c.3909del
NM_001407942.1:c.3894del
NM_001407943.1:c.3891del
NM_001407944.1:c.3894del
NM_001407945.1:c.3894del
NM_001407946.1:c.3702del
NM_001407947.1:c.3702del
NM_001407948.1:c.3702del
NM_001407949.1:c.3702del
NM_001407950.1:c.3702del
NM_001407951.1:c.3702del
NM_001407952.1:c.3702del
NM_001407953.1:c.3702del
NM_001407954.1:c.3699del
NM_001407955.1:c.3699del
NM_001407956.1:c.3699del
NM_001407957.1:c.3702del
NM_001407958.1:c.3699del
NM_001407959.1:c.3654del
NM_001407960.1:c.3654del
NM_001407962.1:c.3651del
NM_001407963.1:c.3654del
NM_001407964.1:c.3891del
NM_001407965.1:c.3531del
NM_001407966.1:c.3147del
NM_001407967.1:c.3147del
NM_001407968.1:c.1431del
NM_001407969.1:c.1431del
NM_001407970.1:c.788-464del
NM_001407971.1:c.788-464del
NM_001407972.1:c.785-464del
NM_001407973.1:c.788-464del
NM_001407974.1:c.788-464del
NM_001407975.1:c.788-464del
NM_001407976.1:c.788-464del
NM_001407977.1:c.788-464del
NM_001407978.1:c.788-464del
NM_001407979.1:c.788-464del
NM_001407980.1:c.788-464del
NM_001407981.1:c.788-464del
NM_001407982.1:c.788-464del
NM_001407983.1:c.788-464del
NM_001407984.1:c.785-464del
NM_001407985.1:c.785-464del
NM_001407986.1:c.785-464del
NM_001407990.1:c.788-464del
NM_001407991.1:c.785-464del
NM_001407992.1:c.785-464del
NM_001407993.1:c.788-464del
NM_001408392.1:c.785-464del
NM_001408396.1:c.785-464del
NM_001408397.1:c.785-464del
NM_001408398.1:c.785-464del
NM_001408399.1:c.785-464del
NM_001408400.1:c.785-464del
NM_001408401.1:c.785-464del
NM_001408402.1:c.785-464del
NM_001408403.1:c.788-464del
NM_001408404.1:c.788-464del
NM_001408406.1:c.791-473del
NM_001408407.1:c.785-464del
NM_001408408.1:c.779-464del
NM_001408409.1:c.710-464del
NM_001408410.1:c.647-464del
NM_001408411.1:c.710-464del
NM_001408412.1:c.710-464del
NM_001408413.1:c.707-464del
NM_001408414.1:c.710-464del
NM_001408415.1:c.710-464del
NM_001408416.1:c.707-464del
NM_001408418.1:c.671-464del
NM_001408419.1:c.671-464del
NM_001408420.1:c.671-464del
NM_001408421.1:c.668-464del
NM_001408422.1:c.671-464del
NM_001408423.1:c.671-464del
NM_001408424.1:c.668-464del
NM_001408425.1:c.665-464del
NM_001408426.1:c.665-464del
NM_001408427.1:c.665-464del
NM_001408428.1:c.665-464del
NM_001408429.1:c.665-464del
NM_001408430.1:c.665-464del
NM_001408431.1:c.668-464del
NM_001408432.1:c.662-464del
NM_001408433.1:c.662-464del
NM_001408434.1:c.662-464del
NM_001408435.1:c.662-464del
NM_001408436.1:c.665-464del
NM_001408437.1:c.665-464del
NM_001408438.1:c.665-464del
NM_001408439.1:c.665-464del
NM_001408440.1:c.665-464del
NM_001408441.1:c.665-464del
NM_001408442.1:c.665-464del
NM_001408443.1:c.665-464del
NM_001408444.1:c.665-464del
NM_001408445.1:c.662-464del
NM_001408446.1:c.662-464del
NM_001408447.1:c.662-464del
NM_001408448.1:c.662-464del
NM_001408450.1:c.662-464del
NM_001408451.1:c.653-464del
NM_001408452.1:c.647-464del
NM_001408453.1:c.647-464del
NM_001408454.1:c.647-464del
NM_001408455.1:c.647-464del
NM_001408456.1:c.647-464del
NM_001408457.1:c.647-464del
NM_001408458.1:c.647-464del
NM_001408459.1:c.647-464del
NM_001408460.1:c.647-464del
NM_001408461.1:c.647-464del
NM_001408462.1:c.644-464del
NM_001408463.1:c.644-464del
NM_001408464.1:c.644-464del
NM_001408465.1:c.644-464del
NM_001408466.1:c.647-464del
NM_001408467.1:c.647-464del
NM_001408468.1:c.644-464del
NM_001408469.1:c.647-464del
NM_001408470.1:c.644-464del
NM_001408472.1:c.788-464del
NM_001408473.1:c.785-464del
NM_001408474.1:c.587-464del
NM_001408475.1:c.584-464del
NM_001408476.1:c.587-464del
NM_001408478.1:c.578-464del
NM_001408479.1:c.578-464del
NM_001408480.1:c.578-464del
NM_001408481.1:c.578-464del
NM_001408482.1:c.578-464del
NM_001408483.1:c.578-464del
NM_001408484.1:c.578-464del
NM_001408485.1:c.578-464del
NM_001408489.1:c.578-464del
NM_001408490.1:c.575-464del
NM_001408491.1:c.575-464del
NM_001408492.1:c.578-464del
NM_001408493.1:c.575-464del
NM_001408494.1:c.548-464del
NM_001408495.1:c.545-464del
NM_001408496.1:c.524-464del
NM_001408497.1:c.524-464del
NM_001408498.1:c.524-464del
NM_001408499.1:c.524-464del
NM_001408500.1:c.524-464del
NM_001408501.1:c.524-464del
NM_001408502.1:c.455-464del
NM_001408503.1:c.521-464del
NM_001408504.1:c.521-464del
NM_001408505.1:c.521-464del
NM_001408506.1:c.461-464del
NM_001408507.1:c.461-464del
NM_001408508.1:c.452-464del
NM_001408509.1:c.452-464del
NM_001408510.1:c.407-464del
NM_001408511.1:c.404-464del
NM_001408512.1:c.284-464del
NM_001408513.1:c.578-464del
NM_001408514.1:c.578-464del
NM_007294.4:c.4035delMANE SELECT
NM_007297.4:c.3894del
NM_007298.4:c.788-464del
NM_007299.4:c.788-464del
NM_007300.4:c.4035del
NP_001394500.1:p.Glu1275fs
NP_001394510.1:p.Glu1346fs
NP_001394511.1:p.Glu1346fs
NP_001394512.1:p.Glu1346fs
NP_001394514.1:p.Glu1346fs
NP_001394516.1:p.Glu1345fs
NP_001394519.1:p.Glu1345fs
NP_001394520.1:p.Glu1345fs
NP_001394522.1:p.Glu1346fs
NP_001394523.1:p.Glu1346fs
NP_001394525.1:p.Glu1346fs
NP_001394526.1:p.Glu1346fs
NP_001394527.1:p.Glu1346fs
NP_001394531.1:p.Glu1346fs
NP_001394532.1:p.Glu1346fs
NP_001394534.1:p.Glu1346fs
NP_001394539.1:p.Glu1345fs
NP_001394540.1:p.Glu1345fs
NP_001394541.1:p.Glu1345fs
NP_001394542.1:p.Glu1345fs
NP_001394543.1:p.Glu1345fs
NP_001394544.1:p.Glu1345fs
NP_001394545.1:p.Glu1346fs
NP_001394546.1:p.Glu1346fs
NP_001394547.1:p.Glu1346fs
NP_001394548.1:p.Glu1346fs
NP_001394549.1:p.Glu1346fs
NP_001394550.1:p.Glu1346fs
NP_001394551.1:p.Glu1346fs
NP_001394552.1:p.Glu1346fs
NP_001394553.1:p.Glu1346fs
NP_001394554.1:p.Glu1346fs
NP_001394555.1:p.Glu1346fs
NP_001394556.1:p.Glu1345fs
NP_001394557.1:p.Glu1345fs
NP_001394558.1:p.Glu1345fs
NP_001394559.1:p.Glu1345fs
NP_001394560.1:p.Glu1345fs
NP_001394561.1:p.Glu1345fs
NP_001394562.1:p.Glu1345fs
NP_001394563.1:p.Glu1345fs
NP_001394564.1:p.Glu1345fs
NP_001394565.1:p.Glu1345fs
NP_001394566.1:p.Glu1345fs
NP_001394567.1:p.Glu1345fs
NP_001394568.1:p.Glu1346fs
NP_001394569.1:p.Glu1346fs
NP_001394570.1:p.Glu1346fs
NP_001394571.1:p.Glu1346fs
NP_001394573.1:p.Glu1345fs
NP_001394574.1:p.Glu1345fs
NP_001394575.1:p.Glu1343fs
NP_001394576.1:p.Glu1343fs
NP_001394577.1:p.Glu1305fs
NP_001394578.1:p.Glu1304fs
NP_001394581.1:p.Glu1346fs
NP_001394582.1:p.Glu1320fs
NP_001394583.1:p.Glu1320fs
NP_001394584.1:p.Glu1320fs
NP_001394585.1:p.Glu1320fs
NP_001394586.1:p.Glu1320fs
NP_001394587.1:p.Glu1320fs
NP_001394588.1:p.Glu1319fs
NP_001394589.1:p.Glu1319fs
NP_001394590.1:p.Glu1319fs
NP_001394591.1:p.Glu1319fs
NP_001394592.1:p.Glu1320fs
NP_001394593.1:p.Glu1305fs
NP_001394594.1:p.Glu1305fs
NP_001394595.1:p.Glu1305fs
NP_001394596.1:p.Glu1305fs
NP_001394597.1:p.Glu1305fs
NP_001394598.1:p.Glu1305fs
NP_001394599.1:p.Glu1304fs
NP_001394600.1:p.Glu1304fs
NP_001394601.1:p.Glu1304fs
NP_001394602.1:p.Glu1304fs
NP_001394603.1:p.Glu1305fs
NP_001394604.1:p.Glu1305fs
NP_001394605.1:p.Glu1305fs
NP_001394606.1:p.Glu1305fs
NP_001394607.1:p.Glu1305fs
NP_001394608.1:p.Glu1305fs
NP_001394609.1:p.Glu1305fs
NP_001394610.1:p.Glu1305fs
NP_001394611.1:p.Glu1305fs
NP_001394612.1:p.Glu1305fs
NP_001394613.1:p.Glu1346fs
NP_001394614.1:p.Glu1304fs
NP_001394615.1:p.Glu1304fs
NP_001394616.1:p.Glu1304fs
NP_001394617.1:p.Glu1304fs
NP_001394618.1:p.Glu1304fs
NP_001394619.1:p.Glu1304fs
NP_001394620.1:p.Glu1304fs
NP_001394621.1:p.Glu1299fs
NP_001394623.1:p.Glu1299fs
NP_001394624.1:p.Glu1299fs
NP_001394625.1:p.Glu1299fs
NP_001394626.1:p.Glu1299fs
NP_001394627.1:p.Glu1299fs
NP_001394653.1:p.Glu1299fs
NP_001394654.1:p.Glu1299fs
NP_001394655.1:p.Glu1299fs
NP_001394656.1:p.Glu1299fs
NP_001394657.1:p.Glu1299fs
NP_001394658.1:p.Glu1299fs
NP_001394659.1:p.Glu1299fs
NP_001394660.1:p.Glu1299fs
NP_001394661.1:p.Glu1299fs
NP_001394662.1:p.Glu1299fs
NP_001394663.1:p.Glu1299fs
NP_001394664.1:p.Glu1299fs
NP_001394665.1:p.Glu1299fs
NP_001394666.1:p.Glu1299fs
NP_001394667.1:p.Glu1299fs
NP_001394668.1:p.Glu1299fs
NP_001394669.1:p.Glu1298fs
NP_001394670.1:p.Glu1298fs
NP_001394671.1:p.Glu1298fs
NP_001394672.1:p.Glu1298fs
NP_001394673.1:p.Glu1298fs
NP_001394674.1:p.Glu1298fs
NP_001394675.1:p.Glu1298fs
NP_001394676.1:p.Glu1298fs
NP_001394677.1:p.Glu1298fs
NP_001394678.1:p.Glu1298fs
NP_001394679.1:p.Glu1299fs
NP_001394680.1:p.Glu1299fs
NP_001394681.1:p.Glu1299fs
NP_001394767.1:p.Glu1298fs
NP_001394768.1:p.Glu1298fs
NP_001394770.1:p.Glu1298fs
NP_001394771.1:p.Glu1298fs
NP_001394772.1:p.Glu1298fs
NP_001394773.1:p.Glu1298fs
NP_001394774.1:p.Glu1298fs
NP_001394775.1:p.Glu1298fs
NP_001394776.1:p.Glu1298fs
NP_001394777.1:p.Glu1298fs
NP_001394778.1:p.Glu1298fs
NP_001394779.1:p.Glu1299fs
NP_001394780.1:p.Glu1299fs
NP_001394781.1:p.Glu1299fs
NP_001394782.1:p.Glu1275fs
NP_001394783.1:p.Glu1346fs
NP_001394787.1:p.Glu1346fs
NP_001394788.1:p.Glu1346fs
NP_001394789.1:p.Glu1345fs
NP_001394790.1:p.Glu1345fs
NP_001394791.1:p.Glu1279fs
NP_001394792.1:p.Glu1305fs
NP_001394803.1:p.Glu1278fs
NP_001394804.1:p.Glu1278fs
NP_001394808.1:p.Glu1276fs
NP_001394810.1:p.Glu1276fs
NP_001394811.1:p.Glu1276fs
NP_001394813.1:p.Glu1276fs
NP_001394814.1:p.Glu1276fs
NP_001394815.1:p.Glu1276fs
NP_001394816.1:p.Glu1276fs
NP_001394818.1:p.Glu1276fs
NP_001394823.1:p.Glu1275fs
NP_001394824.1:p.Glu1275fs
NP_001394825.1:p.Glu1275fs
NP_001394826.1:p.Glu1275fs
NP_001394827.1:p.Glu1275fs
NP_001394828.1:p.Glu1275fs
NP_001394829.1:p.Glu1276fs
NP_001394831.1:p.Glu1276fs
NP_001394833.1:p.Glu1276fs
NP_001394835.1:p.Glu1276fs
NP_001394836.1:p.Glu1276fs
NP_001394837.1:p.Glu1276fs
NP_001394838.1:p.Glu1276fs
NP_001394839.1:p.Glu1276fs
NP_001394844.1:p.Glu1275fs
NP_001394845.1:p.Glu1275fs
NP_001394846.1:p.Glu1275fs
NP_001394847.1:p.Glu1275fs
NP_001394848.1:p.Glu1305fs
NP_001394849.1:p.Glu1258fs
NP_001394850.1:p.Glu1258fs
NP_001394851.1:p.Glu1258fs
NP_001394852.1:p.Glu1258fs
NP_001394853.1:p.Glu1258fs
NP_001394854.1:p.Glu1258fs
NP_001394855.1:p.Glu1258fs
NP_001394856.1:p.Glu1258fs
NP_001394857.1:p.Glu1258fs
NP_001394858.1:p.Glu1258fs
NP_001394859.1:p.Glu1257fs
NP_001394860.1:p.Glu1257fs
NP_001394861.1:p.Glu1257fs
NP_001394862.1:p.Glu1258fs
NP_001394863.1:p.Glu1257fs
NP_001394864.1:p.Glu1258fs
NP_001394865.1:p.Glu1257fs
NP_001394866.1:p.Glu1305fs
NP_001394867.1:p.Glu1305fs
NP_001394868.1:p.Glu1305fs
NP_001394869.1:p.Glu1304fs
NP_001394870.1:p.Glu1304fs
NP_001394871.1:p.Glu1299fs
NP_001394872.1:p.Glu1298fs
NP_001394873.1:p.Glu1299fs
NP_001394874.1:p.Glu1299fs
NP_001394875.1:p.Glu1235fs
NP_001394876.1:p.Glu1235fs
NP_001394877.1:p.Glu1235fs
NP_001394878.1:p.Glu1235fs
NP_001394879.1:p.Glu1235fs
NP_001394880.1:p.Glu1235fs
NP_001394881.1:p.Glu1235fs
NP_001394882.1:p.Glu1235fs
NP_001394883.1:p.Glu1234fs
NP_001394884.1:p.Glu1234fs
NP_001394885.1:p.Glu1234fs
NP_001394886.1:p.Glu1235fs
NP_001394887.1:p.Glu1234fs
NP_001394888.1:p.Glu1219fs
NP_001394889.1:p.Glu1219fs
NP_001394891.1:p.Glu1218fs
NP_001394892.1:p.Glu1219fs
NP_001394893.1:p.Glu1298fs
NP_001394894.1:p.Glu1178fs
NP_001394895.1:p.Glu1050fs
NP_001394896.1:p.Glu1050fs
NP_001394897.1:p.Glu478fs
NP_001394898.1:p.Glu478fs
NP_009225.1:p.Glu1346Lysfs
NP_009225.1:p.Glu1346fs
NP_009228.2:p.Glu1299fs
NP_009231.2:p.Glu1346fs
LRG_292t1:c.4034del
LRG_292:g.126488del
LRG_292p1:p.Glu1346Lysfs
NC_000017.10:g.41243513del
NC_000017.10:g.41243513delT
NC_000017.10:g.41243514del
NC_000017.10:g.41243514del
NC_000017.10:g.41243514delT
NM_007294.3:c.4034delA
NM_007294.3:c.4035delA
NM_007294.4:c.4035delAMANE SELECT
NM_007297.4:c.3894del
NM_007300.3:c.4035del
NM_007300.3:c.4035delA
NR_027676.1:n.4170delA
U14680.1:n.4154delA
p.E1346Kfs*20
p.E1346KfsX20
p.Glu1346Lysfs*20
p.Glu1346LysfsX20

Nucleotide change:

4154delA

Protein change:

E1050fs

Links:

Breast Cancer Information Core (BIC) (BRCA1): 4154&base_change=del A; OMIM: 113705.0030; dbSNP: rs80357711

NCBI 1000 Genomes Browser:

rs80357711

Molecular consequence:

NM_001407571.1:c.3822del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407581.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407582.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407583.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407585.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407587.1:c.4032del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407590.1:c.4032del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407591.1:c.4032del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407593.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407594.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407596.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407597.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407598.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407602.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407603.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407605.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407610.1:c.4032del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407611.1:c.4032del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407612.1:c.4032del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407613.1:c.4032del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407614.1:c.4032del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407615.1:c.4032del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407616.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407617.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407618.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407619.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407620.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407621.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407622.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407623.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407624.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407625.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407626.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407627.1:c.4032del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407628.1:c.4032del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407629.1:c.4032del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407630.1:c.4032del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407631.1:c.4032del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407632.1:c.4032del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407633.1:c.4032del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407634.1:c.4032del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407635.1:c.4032del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407636.1:c.4032del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407637.1:c.4032del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407638.1:c.4032del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407639.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407640.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407641.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407642.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407644.1:c.4032del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407645.1:c.4032del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407646.1:c.4026del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407647.1:c.4026del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407648.1:c.3912del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407649.1:c.3909del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407652.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407653.1:c.3957del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407654.1:c.3957del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407655.1:c.3957del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407656.1:c.3957del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407657.1:c.3957del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407658.1:c.3957del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407659.1:c.3954del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407660.1:c.3954del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407661.1:c.3954del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407662.1:c.3954del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407663.1:c.3957del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407664.1:c.3912del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407665.1:c.3912del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407666.1:c.3912del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407667.1:c.3912del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407668.1:c.3912del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407669.1:c.3912del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407670.1:c.3909del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407671.1:c.3909del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407672.1:c.3909del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407673.1:c.3909del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407674.1:c.3912del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407675.1:c.3912del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407676.1:c.3912del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407677.1:c.3912del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407678.1:c.3912del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407679.1:c.3912del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407680.1:c.3912del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407681.1:c.3912del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407682.1:c.3912del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407683.1:c.3912del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407684.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407685.1:c.3909del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407686.1:c.3909del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407687.1:c.3909del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407688.1:c.3909del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407689.1:c.3909del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407690.1:c.3909del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407691.1:c.3909del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407692.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407694.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407695.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407696.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407697.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407698.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407724.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407725.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407726.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407727.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407728.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407729.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407730.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407731.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407732.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407733.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407734.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407735.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407736.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407737.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407738.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407739.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407740.1:c.3891del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407741.1:c.3891del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407742.1:c.3891del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407743.1:c.3891del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407744.1:c.3891del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407745.1:c.3891del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407746.1:c.3891del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407747.1:c.3891del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407748.1:c.3891del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407749.1:c.3891del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407750.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407751.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407752.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407838.1:c.3891del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407839.1:c.3891del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407841.1:c.3891del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407842.1:c.3891del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407843.1:c.3891del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407844.1:c.3891del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407845.1:c.3891del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407846.1:c.3891del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407847.1:c.3891del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407848.1:c.3891del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407849.1:c.3891del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407850.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407851.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407852.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407853.1:c.3822del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407854.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407858.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407859.1:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407860.1:c.4032del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407861.1:c.4032del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407862.1:c.3834del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407863.1:c.3912del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407874.1:c.3831del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407875.1:c.3831del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407879.1:c.3825del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407881.1:c.3825del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407882.1:c.3825del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407884.1:c.3825del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407885.1:c.3825del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407886.1:c.3825del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407887.1:c.3825del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407889.1:c.3825del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407894.1:c.3822del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407895.1:c.3822del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407896.1:c.3822del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407897.1:c.3822del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407898.1:c.3822del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407899.1:c.3822del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407900.1:c.3825del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407902.1:c.3825del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407904.1:c.3825del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407906.1:c.3825del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407907.1:c.3825del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407908.1:c.3825del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407909.1:c.3825del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407910.1:c.3825del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407915.1:c.3822del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407916.1:c.3822del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407917.1:c.3822del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407918.1:c.3822del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407919.1:c.3912del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407920.1:c.3771del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407921.1:c.3771del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407922.1:c.3771del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407923.1:c.3771del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407924.1:c.3771del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407925.1:c.3771del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407926.1:c.3771del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407927.1:c.3771del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407928.1:c.3771del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407929.1:c.3771del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407930.1:c.3768del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407931.1:c.3768del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407932.1:c.3768del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407933.1:c.3771del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407934.1:c.3768del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407935.1:c.3771del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407936.1:c.3768del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407937.1:c.3912del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407938.1:c.3912del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407939.1:c.3912del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407940.1:c.3909del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407941.1:c.3909del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407942.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407943.1:c.3891del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407944.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407945.1:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407946.1:c.3702del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407947.1:c.3702del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407948.1:c.3702del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407949.1:c.3702del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407950.1:c.3702del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407951.1:c.3702del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407952.1:c.3702del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407953.1:c.3702del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407954.1:c.3699del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407955.1:c.3699del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407956.1:c.3699del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407957.1:c.3702del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407958.1:c.3699del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407959.1:c.3654del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407960.1:c.3654del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407962.1:c.3651del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407963.1:c.3654del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407964.1:c.3891del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407965.1:c.3531del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407966.1:c.3147del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407967.1:c.3147del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407968.1:c.1431del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407969.1:c.1431del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007294.4:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007297.4:c.3894del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007300.4:c.4035del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407970.1:c.788-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.788-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.785-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.788-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.788-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.788-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.788-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.788-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.788-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.788-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.788-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.788-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.788-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.788-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.785-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.785-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.785-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.788-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.785-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.785-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.788-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.785-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.785-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.785-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.785-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.785-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.785-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.785-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.785-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.788-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.788-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.791-473del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.785-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.779-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.710-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.647-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.710-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.710-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.707-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.710-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.710-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.707-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.671-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.671-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.671-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.668-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.671-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.671-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.668-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.665-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.665-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.665-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.665-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.665-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.665-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.668-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.662-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.662-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.662-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.662-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.665-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.665-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.665-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.665-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.665-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.665-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.665-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.665-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.665-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.662-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.662-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.662-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.662-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.662-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.653-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.647-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.647-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.647-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.647-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.647-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.647-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.647-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.647-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.647-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.647-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.644-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.644-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.644-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.644-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.647-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.647-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.644-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.647-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.644-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.788-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.785-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.587-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.584-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.587-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.578-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.578-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.578-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.578-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.578-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.578-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.578-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.578-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.578-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.575-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.575-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.578-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.575-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.548-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.545-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.524-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.524-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.524-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.524-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.524-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.524-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.455-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.521-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.521-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.521-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.461-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.461-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.452-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.452-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.407-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.404-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.284-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.578-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.578-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.788-464del - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.788-464del - intron variant - [Sequence Ontology: SO:0001627]

Observations:

312

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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Chromosome neighbors for GEO Profiles (Select 126259238) (20)
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Concise Conserved Domain Links for Protein (Select 60391821) (1)
Conserved Domains
Metformin effect on Mycobacterium tuberculosis-infected lung
Metformin effect on Mycobacterium tuberculosis-infected lung
Accession: GDS5436

GEO DataSets

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000039547	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 1996)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000053740	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Pathogenic (Apr 19, 2013)	germline	clinical testing
SCV000144938	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Pathogenic (May 29, 2002)	germline, unknown	clinical testing
SCV000221052	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Pathogenic (Jan 19, 2015)	unknown	literature only	PubMed (9) [See all records that cite these PMIDs] 23274591, 22032251, 22009639, 20345474, 20569256, 20507347, 8644703, 24504028, 23149842 Counsyl Autosomal Dominant Disease Classification criteria (2015), Citation Link,
SCV000282321	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015))	Pathogenic (Apr 22, 2016)	germline	curation	ENIGMA BRCA1/2 Classification Criteria (2015), Citation Link,
SCV000325817	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,
SCV000564320	Department of Medical Genetics, Oslo University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 1, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000591480	Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR) See additional submitters Franklin by Genoox	no assertion criteria provided	Pathogenic	unknown	clinical testing
SCV000993554	HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI_GT	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 4, 2019)	unknown	research	PubMed (1) [See all records that cite this PMID]
SCV001430692	Institute of Genomics, University of Tartu	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	germline	research	PubMed (1) [See all records that cite this PMID]
SCV001499714	Department of Molecular Diagnostics, Institute of Oncology Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 2, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002581449	MGZ Medical Genetics Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 14, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002588803	BRCAlab, Lund University	no assertion criteria provided	Pathogenic (Aug 26, 2022)	germline	clinical testing
SCV004176014	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 15, 2023)	maternal	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004212672	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 19, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004817721	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 8, 2023)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 20345474, 23274591, 24770866, 29785153, 30040829, 33471991, 25741868
SCV005045966	Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 27, 2024)	germline	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	not provided	10	not provided	not provided	10	not provided	literature only, clinical testing
not provided	unknown	yes	3	not provided	not provided	not provided	not provided	clinical testing
not provided	not provided	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	maternal	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	38	11	not provided	not provided	not provided	clinical testing, research
not provided	germline	unknown	2	301	not provided	108544	not provided	clinical testing, curation
not provided	unknown	unknown	1	not provided	not provided	1	not provided	clinical testing, research, literature only
Caucasian Non Hispanic	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing
Central/Eastern European	germline	yes	5	not provided	not provided	not provided	not provided	clinical testing
Central/Eastern European, Greek And Russian	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Latvian	germline	yes	15	not provided	not provided	not provided	not provided	clinical testing
Lithuanian	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European	germline	yes	11	not provided	not provided	not provided	not provided	clinical testing
Western European, Ashkenazi	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western Europeanan, Central/Eastern European	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Genotype-phenotype correlations among BRCA1 4153delA and 5382insC mutation carriers from Latvia.

Plakhins G, Irmejs A, Gardovskis A, Subatniece S, Rozite S, Bitina M, Keire G, Purkalne G, Teibe U, Trofimovics G, Miklasevics E, Gardovskis J.

BMC Med Genet. 2011 Oct 27;12:147. doi: 10.1186/1471-2350-12-147.

PubMed [citation]

PMID:: 22032251
PMCID:: PMC3221648

Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ.

Bayraktar S, Elsayegh N, Gutierrez Barrera AM, Lin H, Kuerer H, Tasbas T, Muse KI, Ready K, Litton J, Meric-Bernstam F, Hortobagyi GN, Albarracin CT, Arun B.

Cancer. 2012 Mar 15;118(6):1515-22. doi: 10.1002/cncr.26428. Epub 2011 Aug 25. Erratum in: Cancer. 2014 Mar 15;120(6):927.

PubMed [citation]

PMID:: 22009639
PMCID:: PMC4407692

See all PubMed Citations (14)

Details of each submission

From OMIM, SCV000039547.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

By mutation analysis of the BRCA1 gene in families with breast-ovarian cancer (604370) in Russia, Gayther et al. (1997) identified a novel 4153delA mutation. They stated that this mutation and the 5382insC (113705.0018) mutation in the BRCA1 gene may account for 86% of cases of familial ovarian cancer in Russia.

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

From Sharing Clinical Reports Project (SCRP), SCV000053740.6

#	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	10	not provided	not provided		not provided	not provided	not provided	not provided

From Breast Cancer Information Core (BIC) (BRCA1), SCV000144938.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	11	not provided	not provided	clinical testing	not provided
2	not provided	1	not provided	not provided	clinical testing	not provided
3	not provided	1	not provided	not provided	clinical testing	not provided
4	not provided	1	not provided	not provided	clinical testing	not provided
5	not provided	1	not provided	not provided	clinical testing	not provided
6	not provided	1	not provided	not provided	clinical testing	not provided
7	Caucasian Non Hispanic	2	not provided	not provided	clinical testing	not provided
8	Central/Eastern European	5	not provided	not provided	clinical testing	not provided
9	Central/Eastern European, Greek And Russian	1	not provided	not provided	clinical testing	not provided
10	Latvian	15	not provided	not provided	clinical testing	not provided
11	Lithuanian	1	not provided	not provided	clinical testing	not provided
12	Western European	11	not provided	not provided	clinical testing	not provided
13	Western European, Ashkenazi	1	not provided	not provided	clinical testing	not provided
14	Western Europeanan, Central/Eastern European	2	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		11	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
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		1	not provided	not provided	not provided
6	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
7	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided
8	germline	yes	not provided	not provided	not provided		5	not provided	not provided	not provided
9	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
10	germline	yes	not provided	not provided	not provided		15	not provided	not provided	not provided
11	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
12	germline	yes	not provided	not provided	not provided		11	not provided	not provided	not provided
13	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
14	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

From Counsyl, SCV000221052.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (9)

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

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV000282321.1

#	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

From Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge, SCV000325817.4

#	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	301	not provided

From Department of Medical Genetics, Oslo University Hospital, SCV000564320.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	6	not provided	not provided	clinical testing	PubMed (1)

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

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591480.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	not provided

Description

The p.Glu1346LysfsX20 deletion variant was identified in 176 of 22934 proband chromosomes (frequency: 0.008) from individuals with prostate cancer, breast cancer, ovarian cancer, or other gynaecological tumours, and was present in 3 of 11336 control chromosomes (frequency: 0.0003) (Bayraktar 2012, Bogdanova 2010, Cybulski 2013, Elsakov 2010, Gayther 1996 8644703, Jakubowska 2008, Plakhins 2011, Tikhomirova 2005, Uglanitsa 2010). The variant is described in the literature as a founder mutation in Slavic and Baltic countries, including Poland, Belarus, Latvia, Russia, and Lithuania (Bogdanova 2010, Cybulski 2013, Elsakov 2010, Ozolina 2009, Uglanitsa 2010). The variant was also identified in dbSNP (ID: rs80357711) â€šÃ„ÃºWith pathogenic alleleâ€šÃ„Ã¹, HGMD, UMD (2X as a causal variant), and the BIC database (51X as a variant with clinical importance). The p.Glu1346LysfsX20 deletion variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1346 and leads to a premature stop codon 20 codons downstream. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the BRCA1 gene are an established mechanism of disease in hereditary breast and ovarian cancer and is the type of variant expected to cause the disorder. In summary, based on the above information, this variant meets our laboratoryâ€šÃ„Ã´s criteria to be classified as pathogenic.

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

From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI_GT, SCV000993554.1

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

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

From Institute of Genomics, University of Tartu, SCV001430692.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	16	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		16	not provided	not provided	not provided

From Department of Molecular Diagnostics, Institute of Oncology Ljubljana, SCV001499714.1

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

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

From MGZ Medical Genetics Center, SCV002581449.1

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

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

From BRCAlab, Lund University, SCV002588803.1

#	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	11	not provided

From Institute of Human Genetics, University of Leipzig Medical Center, SCV004176014.1

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

Description

Criteria applied: PVS1,PS4,PM5_STR

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

From Baylor Genetics, SCV004212672.2

#	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

From All of Us Research Program, National Institutes of Health, SCV004817721.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (7)

Description

This variant deletes 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is also known as 4153delA and 4154delA in the literature according to the BIC nomenclature. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in many individuals affected with breast and ovarian cancer (PMID: 20345474, 24770866, 29785153, 30040829) and is known to be a founder mutation in the Baltic Population (PMID: 23274591). This variant also has been detected in a breast cancer case-control meta-analysis in 11/60466 cases and 0/53461 unaffected individuals (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA1_000791). This variant has been identified in 12/282514 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	108544	not provided	not provided		2	not provided	not provided	not provided

From Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, SCV005045966.1

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

Description

PVS1; PM5_PTC_Strong

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

Last Updated: Oct 26, 2024

Relating variation to medicine