NM_007294.4(BRCA1):c.4035del (p.Glu1346fs) AND not provided

Germline classification:: Pathogenic (11 submissions)
Last evaluated:: Oct 16, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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

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

Record status:: current
Accession:: RCV000074587.52

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:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Taxonomy
Protein Links for Nucleotide (Select 2005940772) (215)
Protein
HMGB1 high mobility group box 1 [Homo sapiens]
HMGB1 high mobility group box 1 [Homo sapiens]
Gene ID:3146

Gene
Gene Links for GEO Profiles (Select 63272872) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000108672	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jan 17, 2022)	germline	clinical testing	Citation Link,
SCV000296398	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Jul 29, 2020)	unknown	clinical testing	PubMed (13) [See all records that cite these PMIDs] 8644703, 20569256, 23149842, 20345474, 23274591, 22032251, 20507347, 29785153, 29492181, 29446198, 31159747, 26467025, 26295337
SCV001247351	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Aug 1, 2023)	germline	clinical testing	Citation Link,
SCV001447897	Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 23, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001449606	Clinical Genetics and Genomics, Karolinska University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 6, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002009408	Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 3, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002049950	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2021)	Pathogenic (Nov 26, 2021)	germline	clinical testing	Citation Link,
SCV002760930	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 15, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003811700	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 15, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005199722	Clinical Genetics Laboratory, Skane University Hospital Lund	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Dec 12, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005374719	Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	criteria provided, single submitter (Hauer et al. (Genet Med. 2018))	Pathogenic (Oct 16, 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	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	15	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Rapid detection of regionally clustered germ-line BRCA1 mutations by multiplex heteroduplex analysis. UKCCCR Familial Ovarian Cancer Study Group.

Gayther SA, Harrington P, Russell P, Kharkevich G, Garkavtseva RF, Ponder BA.

Am J Hum Genet. 1996 Mar;58(3):451-6.

PubMed [citation]

PMID:: 8644703
PMCID:: PMC1914578

High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus.

Bogdanova NV, Antonenkova NN, Rogov YI, Karstens JH, Hillemanns P, Dörk T.

Clin Genet. 2010 Oct;78(4):364-72. doi: 10.1111/j.1399-0004.2010.01473.x.

PubMed [citation]

PMID:: 20569256

See all PubMed Citations (15)

Details of each submission

From GeneDx, SCV000108672.16

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed in individuals with a personal or family history consistent with pathogenic variants in this gene and is reported as a pathogenic founder variant in several eastern European countries (Gayther 1996, Bogdanova 2010, Janavicius 2013, Szwiec 2015, Synowiec 2016); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as 4153delA or 4154delA; This variant is associated with the following publications: (PMID: 29684080, 29339979, 8644703, 26779294, 23274591, 26928677, 29492181, 28166811, 23149842, 22032251, 22009639, 20345474, 20507347, 20569256, 24504028, 24797986, 20223023, 24528374, 26753012, 26843898, 27836010, 26681312, 29723101, 28831036, 29719582, 29785153, 29086229, 28279176, 30720243, 30322717, 31159747, 29625052, 26689913, 27535533)

#	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 Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000296398.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (13)

Description

The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and found in general population data at a frequency that is consistent with pathogenicity.

#	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 CeGaT Center for Human Genetics Tuebingen, SCV001247351.26

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

Description

BRCA1: PVS1, PS4:Moderate

#	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		2	not provided	not provided	not provided

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001447897.1

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

From Clinical Genetics and Genomics, Karolinska University Hospital, SCV001449606.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	12	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		12	not provided	not provided	not provided

From Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden, SCV002009408.3

#	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	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV002049950.1

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

Description

The BRCA1 c.4035delA; p.Glu1346LysfsTer20 variant (rs80357711), also known as 4153del or 4154del, is reported in several individuals affected with breast and ovarian cancer and is described as a pathogenic founder variant in the European population (Bogdanova 2010, Elsakov 2010, Plakhins 2011). The variant is reported as pathogenic by several sources in the ClinVar database (Variation ID: 37560) and is listed in the non-Finnish European population with an allele frequency of 0.009% (12/129,020 alleles) in the Genome Aggregation Database. This variant causes a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. References: Bogdanova NV et al. High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus. Clin Genet. 2010 Oct;78(4):364-72. PMID: 20569256. Elsakov P et al. The contribution of founder mutations in BRCA1 to breast and ovarian cancer in Lithuania. Clin Genet. 2010 Oct;78(4):373-6. PMID: 20345474. Plakhins G et al. Genotype-phenotype correlations among BRCA1 4153delA and 5382insC mutation carriers from Latvia. BMC Med Genet. 2011 Oct 27;12:147. PMID: 22032251.

#	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 Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV002760930.3

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV003811700.2

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Clinical Genetics Laboratory, Skane University Hospital Lund, SCV005199722.1

#	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 Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, SCV005374719.1

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

Description

This variant has been identified by standard clinical testing. female patient with triple negative breast cancer Selected ACMG criteria: Pathogenic (I):PP5;PS4;PVS1

#	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

Last Updated: Oct 26, 2024

Relating variation to medicine