U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.4035del (p.Glu1346fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jan 9, 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:
RCV000130638.21

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]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000185517Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(May 5, 2022) 		germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Citation Link,

SCV000683145Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 9, 2024) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.

Cunningham JM, Cicek MS, Larson NB, Davila J, Wang C, Larson MC, Song H, Dicks EM, Harrington P, Wick M, Winterhoff BJ, Hamidi H, Konecny GE, Chien J, Bibikova M, Fan JB, Kalli KR, Lindor NM, Fridley BL, Pharoah PP, Goode EL.

Sci Rep. 2014 Feb 7;4:4026. doi: 10.1038/srep04026.

PubMed [citation]
PMID:
24504028
PMCID:
PMC4168524

BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers.

Maxwell KN, Wubbenhorst B, Wenz BM, De Sloover D, Pluta J, Emery L, Barrett A, Kraya AA, Anastopoulos IN, Yu S, Jiang Y, Chen H, Zhang NR, Hackman N, D'Andrea K, Daber R, Morrissette JJD, Mitra N, Feldman M, Domchek SM, Nathanson KL.

Nat Commun. 2017 Aug 22;8(1):319. doi: 10.1038/s41467-017-00388-9.

PubMed [citation]
PMID:
28831036
PMCID:
PMC5567274
See all PubMed Citations (13)

Details of each submission

From Ambry Genetics, SCV000185517.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)

Description

The c.4035delA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 4035, causing a translational frameshift with a predicted alternate stop codon (p.E1346Kfs*20). This mutation has been reported in numerous cases of breast and ovarian cancer (Gayther SA et al. Am. J. Hum. Genet. 1996 Mar;58:451-6; Elsakov P et al. Clin. Genet. 2010 Oct;78:373-6; Uglanitsa N et al. Clin. Genet. 2010 Oct;78:377-80; Cunningham JM et al. Sci. Rep. 2014 Feb;4:4026; Maxwell KN et al. Nat. Commun. 2017 08;8:319; Heramb C et al. Hered Cancer Clin Pract, 2018 Jan;16:3; Yehia L et al. PLoS Genet., 2018 04;14:e1007352; Kowalik A et al. PLoS ONE, 2018 Jul;13:e0201086; Goidescu IG et al. Clujul Med, 2018 Apr;91:157-165). Furthermore, this mutation is regarded as a founder mutation of Baltic origin, with the highest observed frequency in Lithuania (Janavicius R et al. Eur. J. Med. Genet. 2013 Mar;56:125-30). Of note, this alteration is also designated as 4154delA and 4153delA in published literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Color Diagnostics, LLC DBA Color Health, SCV000683145.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024