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NM_007294.4(BRCA1):c.68_69dup (p.Cys24fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 11, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000223371.12

Allele description [Variation Report for NM_007294.4(BRCA1):c.68_69dup (p.Cys24fs)]

NM_007294.4(BRCA1):c.68_69dup (p.Cys24fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.68_69dup (p.Cys24fs)
HGVS:
  • NC_000017.11:g.43124028CT[3]
  • NG_005905.2:g.93953AG[3]
  • NM_001407571.1:c.-123_-122AG[3]
  • NM_001407581.1:c.66_67AG[3]
  • NM_001407582.1:c.66_67AG[3]
  • NM_001407583.1:c.66_67AG[3]
  • NM_001407585.1:c.66_67AG[3]
  • NM_001407587.1:c.66_67AG[3]
  • NM_001407590.1:c.66_67AG[3]
  • NM_001407591.1:c.66_67AG[3]
  • NM_001407593.1:c.66_67AG[3]
  • NM_001407594.1:c.66_67AG[3]
  • NM_001407596.1:c.66_67AG[3]
  • NM_001407597.1:c.66_67AG[3]
  • NM_001407598.1:c.66_67AG[3]
  • NM_001407602.1:c.66_67AG[3]
  • NM_001407603.1:c.66_67AG[3]
  • NM_001407605.1:c.66_67AG[3]
  • NM_001407610.1:c.66_67AG[3]
  • NM_001407611.1:c.66_67AG[3]
  • NM_001407612.1:c.66_67AG[3]
  • NM_001407613.1:c.66_67AG[3]
  • NM_001407614.1:c.66_67AG[3]
  • NM_001407615.1:c.66_67AG[3]
  • NM_001407616.1:c.66_67AG[3]
  • NM_001407617.1:c.66_67AG[3]
  • NM_001407618.1:c.66_67AG[3]
  • NM_001407619.1:c.66_67AG[3]
  • NM_001407620.1:c.66_67AG[3]
  • NM_001407621.1:c.66_67AG[3]
  • NM_001407622.1:c.66_67AG[3]
  • NM_001407623.1:c.66_67AG[3]
  • NM_001407624.1:c.66_67AG[3]
  • NM_001407625.1:c.66_67AG[3]
  • NM_001407626.1:c.66_67AG[3]
  • NM_001407627.1:c.66_67AG[3]
  • NM_001407628.1:c.66_67AG[3]
  • NM_001407629.1:c.66_67AG[3]
  • NM_001407630.1:c.66_67AG[3]
  • NM_001407631.1:c.66_67AG[3]
  • NM_001407632.1:c.66_67AG[3]
  • NM_001407633.1:c.66_67AG[3]
  • NM_001407634.1:c.66_67AG[3]
  • NM_001407635.1:c.66_67AG[3]
  • NM_001407636.1:c.66_67AG[3]
  • NM_001407637.1:c.66_67AG[3]
  • NM_001407638.1:c.66_67AG[3]
  • NM_001407639.1:c.66_67AG[3]
  • NM_001407640.1:c.66_67AG[3]
  • NM_001407641.1:c.66_67AG[3]
  • NM_001407642.1:c.66_67AG[3]
  • NM_001407644.1:c.66_67AG[3]
  • NM_001407645.1:c.66_67AG[3]
  • NM_001407646.1:c.66_67AG[3]
  • NM_001407647.1:c.66_67AG[3]
  • NM_001407648.1:c.66_67AG[3]
  • NM_001407649.1:c.66_67AG[3]
  • NM_001407652.1:c.66_67AG[3]
  • NM_001407653.1:c.66_67AG[3]
  • NM_001407654.1:c.66_67AG[3]
  • NM_001407655.1:c.66_67AG[3]
  • NM_001407656.1:c.66_67AG[3]
  • NM_001407657.1:c.66_67AG[3]
  • NM_001407658.1:c.66_67AG[3]
  • NM_001407659.1:c.66_67AG[3]
  • NM_001407660.1:c.66_67AG[3]
  • NM_001407661.1:c.66_67AG[3]
  • NM_001407662.1:c.66_67AG[3]
  • NM_001407663.1:c.66_67AG[3]
  • NM_001407664.1:c.66_67AG[3]
  • NM_001407665.1:c.66_67AG[3]
  • NM_001407666.1:c.66_67AG[3]
  • NM_001407667.1:c.66_67AG[3]
  • NM_001407668.1:c.66_67AG[3]
  • NM_001407669.1:c.66_67AG[3]
  • NM_001407670.1:c.66_67AG[3]
  • NM_001407671.1:c.66_67AG[3]
  • NM_001407672.1:c.66_67AG[3]
  • NM_001407673.1:c.66_67AG[3]
  • NM_001407674.1:c.66_67AG[3]
  • NM_001407675.1:c.66_67AG[3]
  • NM_001407676.1:c.66_67AG[3]
  • NM_001407677.1:c.66_67AG[3]
  • NM_001407678.1:c.66_67AG[3]
  • NM_001407679.1:c.66_67AG[3]
  • NM_001407680.1:c.66_67AG[3]
  • NM_001407681.1:c.66_67AG[3]
  • NM_001407682.1:c.66_67AG[3]
  • NM_001407683.1:c.66_67AG[3]
  • NM_001407684.1:c.66_67AG[3]
  • NM_001407685.1:c.66_67AG[3]
  • NM_001407686.1:c.66_67AG[3]
  • NM_001407687.1:c.66_67AG[3]
  • NM_001407688.1:c.66_67AG[3]
  • NM_001407689.1:c.66_67AG[3]
  • NM_001407690.1:c.66_67AG[3]
  • NM_001407691.1:c.66_67AG[3]
  • NM_001407694.1:c.-192_-191AG[3]
  • NM_001407695.1:c.-196_-195AG[3]
  • NM_001407696.1:c.-337_-336AG[3]
  • NM_001407697.1:c.-221_-220AG[3]
  • NM_001407698.1:c.-22_-21AG[3]
  • NM_001407724.1:c.-192_-191AG[3]
  • NM_001407725.1:c.-195_-194AG[3]
  • NM_001407726.1:c.-141_-140AG[3]
  • NM_001407727.1:c.-192_-191AG[3]
  • NM_001407730.1:c.-195_-194AG[3]
  • NM_001407731.1:c.-192_-191AG[3]
  • NM_001407732.1:c.-22_-21AG[3]
  • NM_001407733.1:c.-192_-191AG[3]
  • NM_001407734.1:c.-195_-194AG[3]
  • NM_001407736.1:c.-22_-21AG[3]
  • NM_001407738.1:c.-22_-21AG[3]
  • NM_001407739.1:c.-195_-194AG[3]
  • NM_001407740.1:c.-195_-194AG[3]
  • NM_001407741.1:c.-199_-198AG[3]
  • NM_001407742.1:c.-22_-21AG[3]
  • NM_001407744.1:c.-22_-21AG[3]
  • NM_001407748.1:c.-195_-194AG[3]
  • NM_001407749.1:c.-192_-191AG[3]
  • NM_001407750.1:c.-22_-21AG[3]
  • NM_001407751.1:c.-141_-140AG[3]
  • NM_001407752.1:c.-195_-194AG[3]
  • NM_001407838.1:c.-195_-194AG[3]
  • NM_001407841.1:c.-72_-71AG[3]
  • NM_001407842.1:c.-192_-191AG[3]
  • NM_001407843.1:c.-192_-191AG[3]
  • NM_001407845.1:c.-22_-21AG[3]
  • NM_001407846.1:c.-221_-220AG[3]
  • NM_001407847.1:c.-195_-194AG[3]
  • NM_001407849.1:c.-22_-21AG[3]
  • NM_001407850.1:c.-195_-194AG[3]
  • NM_001407852.1:c.-22_-21AG[3]
  • NM_001407853.1:c.-123_-122AG[3]
  • NM_001407854.1:c.66_67AG[3]
  • NM_001407858.1:c.66_67AG[3]
  • NM_001407859.1:c.66_67AG[3]
  • NM_001407860.1:c.66_67AG[3]
  • NM_001407861.1:c.66_67AG[3]
  • NM_001407862.1:c.66_67AG[3]
  • NM_001407863.1:c.66_67AG[3]
  • NM_001407874.1:c.66_67AG[3]
  • NM_001407875.1:c.66_67AG[3]
  • NM_001407879.1:c.-123_-122AG[3]
  • NM_001407881.1:c.-69_-68AG[3]
  • NM_001407882.1:c.-123_-122AG[3]
  • NM_001407884.1:c.-123_-122AG[3]
  • NM_001407886.1:c.-123_-122AG[3]
  • NM_001407887.1:c.-123_-122AG[3]
  • NM_001407889.1:c.-239_-238AG[3]
  • NM_001407894.1:c.-123_-122AG[3]
  • NM_001407895.1:c.-123_-122AG[3]
  • NM_001407897.1:c.-123_-122AG[3]
  • NM_001407898.1:c.-69_-68AG[3]
  • NM_001407899.1:c.-123_-122AG[3]
  • NM_001407902.1:c.-69_-68AG[3]
  • NM_001407904.1:c.-123_-122AG[3]
  • NM_001407906.1:c.-123_-122AG[3]
  • NM_001407907.1:c.-123_-122AG[3]
  • NM_001407908.1:c.-123_-122AG[3]
  • NM_001407909.1:c.-123_-122AG[3]
  • NM_001407910.1:c.-123_-122AG[3]
  • NM_001407915.1:c.-123_-122AG[3]
  • NM_001407916.1:c.-123_-122AG[3]
  • NM_001407917.1:c.-242_-241AG[3]
  • NM_001407918.1:c.-123_-122AG[3]
  • NM_001407919.1:c.66_67AG[3]
  • NM_001407920.1:c.-221_-220AG[3]
  • NM_001407921.1:c.-195_-194AG[3]
  • NM_001407923.1:c.-195_-194AG[3]
  • NM_001407924.1:c.-22_-21AG[3]
  • NM_001407925.1:c.-22_-21AG[3]
  • NM_001407927.1:c.-195_-194AG[3]
  • NM_001407928.1:c.-22_-21AG[3]
  • NM_001407929.1:c.-22_-21AG[3]
  • NM_001407930.1:c.-192_-191AG[3]
  • NM_001407932.1:c.-22_-21AG[3]
  • NM_001407933.1:c.-195_-194AG[3]
  • NM_001407934.1:c.-199_-198AG[3]
  • NM_001407936.1:c.-22_-21AG[3]
  • NM_001407937.1:c.66_67AG[3]
  • NM_001407938.1:c.66_67AG[3]
  • NM_001407939.1:c.66_67AG[3]
  • NM_001407940.1:c.66_67AG[3]
  • NM_001407941.1:c.66_67AG[3]
  • NM_001407942.1:c.-192_-191AG[3]
  • NM_001407943.1:c.-195_-194AG[3]
  • NM_001407944.1:c.-195_-194AG[3]
  • NM_001407945.1:c.-22_-21AG[3]
  • NM_001407946.1:c.-123_-122AG[3]
  • NM_001407947.1:c.-123_-122AG[3]
  • NM_001407948.1:c.-123_-122AG[3]
  • NM_001407949.1:c.-123_-122AG[3]
  • NM_001407950.1:c.-123_-122AG[3]
  • NM_001407951.1:c.-123_-122AG[3]
  • NM_001407952.1:c.-123_-122AG[3]
  • NM_001407953.1:c.-123_-122AG[3]
  • NM_001407954.1:c.-242_-241AG[3]
  • NM_001407955.1:c.-123_-122AG[3]
  • NM_001407956.1:c.-123_-122AG[3]
  • NM_001407957.1:c.-123_-122AG[3]
  • NM_001407958.1:c.-123_-122AG[3]
  • NM_001407965.1:c.-354_-353AG[3]
  • NM_001407968.1:c.66_67AG[3]
  • NM_001407969.1:c.66_67AG[3]
  • NM_001407970.1:c.66_67AG[3]
  • NM_001407971.1:c.66_67AG[3]
  • NM_001407972.1:c.66_67AG[3]
  • NM_001407973.1:c.66_67AG[3]
  • NM_001407974.1:c.66_67AG[3]
  • NM_001407975.1:c.66_67AG[3]
  • NM_001407976.1:c.66_67AG[3]
  • NM_001407977.1:c.66_67AG[3]
  • NM_001407978.1:c.66_67AG[3]
  • NM_001407979.1:c.66_67AG[3]
  • NM_001407980.1:c.66_67AG[3]
  • NM_001407981.1:c.66_67AG[3]
  • NM_001407982.1:c.66_67AG[3]
  • NM_001407983.1:c.66_67AG[3]
  • NM_001407984.1:c.66_67AG[3]
  • NM_001407985.1:c.66_67AG[3]
  • NM_001407986.1:c.66_67AG[3]
  • NM_001407990.1:c.66_67AG[3]
  • NM_001407991.1:c.66_67AG[3]
  • NM_001407992.1:c.66_67AG[3]
  • NM_001407993.1:c.66_67AG[3]
  • NM_001408392.1:c.66_67AG[3]
  • NM_001408396.1:c.66_67AG[3]
  • NM_001408397.1:c.66_67AG[3]
  • NM_001408398.1:c.66_67AG[3]
  • NM_001408399.1:c.66_67AG[3]
  • NM_001408400.1:c.66_67AG[3]
  • NM_001408401.1:c.66_67AG[3]
  • NM_001408402.1:c.66_67AG[3]
  • NM_001408403.1:c.66_67AG[3]
  • NM_001408404.1:c.66_67AG[3]
  • NM_001408406.1:c.66_67AG[3]
  • NM_001408407.1:c.66_67AG[3]
  • NM_001408408.1:c.66_67AG[3]
  • NM_001408409.1:c.66_67AG[3]
  • NM_001408410.1:c.-195_-194AG[3]
  • NM_001408411.1:c.66_67AG[3]
  • NM_001408412.1:c.66_67AG[3]
  • NM_001408413.1:c.66_67AG[3]
  • NM_001408414.1:c.66_67AG[3]
  • NM_001408415.1:c.66_67AG[3]
  • NM_001408416.1:c.66_67AG[3]
  • NM_001408418.1:c.66_67AG[3]
  • NM_001408419.1:c.66_67AG[3]
  • NM_001408420.1:c.66_67AG[3]
  • NM_001408421.1:c.66_67AG[3]
  • NM_001408422.1:c.66_67AG[3]
  • NM_001408423.1:c.66_67AG[3]
  • NM_001408424.1:c.66_67AG[3]
  • NM_001408425.1:c.66_67AG[3]
  • NM_001408426.1:c.66_67AG[3]
  • NM_001408427.1:c.66_67AG[3]
  • NM_001408428.1:c.66_67AG[3]
  • NM_001408429.1:c.66_67AG[3]
  • NM_001408430.1:c.66_67AG[3]
  • NM_001408431.1:c.66_67AG[3]
  • NM_001408432.1:c.66_67AG[3]
  • NM_001408433.1:c.66_67AG[3]
  • NM_001408434.1:c.66_67AG[3]
  • NM_001408435.1:c.66_67AG[3]
  • NM_001408436.1:c.66_67AG[3]
  • NM_001408437.1:c.66_67AG[3]
  • NM_001408438.1:c.66_67AG[3]
  • NM_001408439.1:c.66_67AG[3]
  • NM_001408440.1:c.66_67AG[3]
  • NM_001408441.1:c.66_67AG[3]
  • NM_001408442.1:c.66_67AG[3]
  • NM_001408443.1:c.66_67AG[3]
  • NM_001408444.1:c.66_67AG[3]
  • NM_001408445.1:c.66_67AG[3]
  • NM_001408446.1:c.66_67AG[3]
  • NM_001408447.1:c.66_67AG[3]
  • NM_001408448.1:c.66_67AG[3]
  • NM_001408450.1:c.66_67AG[3]
  • NM_001408451.1:c.66_67AG[3]
  • NM_001408452.1:c.-195_-194AG[3]
  • NM_001408454.1:c.-22_-21AG[3]
  • NM_001408455.1:c.-192_-191AG[3]
  • NM_001408456.1:c.-192_-191AG[3]
  • NM_001408459.1:c.-22_-21AG[3]
  • NM_001408460.1:c.-22_-21AG[3]
  • NM_001408461.1:c.-22_-21AG[3]
  • NM_001408462.1:c.-195_-194AG[3]
  • NM_001408463.1:c.-195_-194AG[3]
  • NM_001408464.1:c.-22_-21AG[3]
  • NM_001408465.1:c.-196_-195AG[3]
  • NM_001408466.1:c.-195_-194AG[3]
  • NM_001408467.1:c.-22_-21AG[3]
  • NM_001408468.1:c.-192_-191AG[3]
  • NM_001408472.1:c.66_67AG[3]
  • NM_001408473.1:c.66_67AG[3]
  • NM_001408474.1:c.66_67AG[3]
  • NM_001408475.1:c.66_67AG[3]
  • NM_001408476.1:c.66_67AG[3]
  • NM_001408478.1:c.-123_-122AG[3]
  • NM_001408479.1:c.-123_-122AG[3]
  • NM_001408480.1:c.-123_-122AG[3]
  • NM_001408481.1:c.-123_-122AG[3]
  • NM_001408482.1:c.-268_-267AG[3]
  • NM_001408483.1:c.-123_-122AG[3]
  • NM_001408484.1:c.-123_-122AG[3]
  • NM_001408485.1:c.-123_-122AG[3]
  • NM_001408489.1:c.-123_-122AG[3]
  • NM_001408490.1:c.-123_-122AG[3]
  • NM_001408491.1:c.-123_-122AG[3]
  • NM_001408492.1:c.-239_-238AG[3]
  • NM_001408493.1:c.-123_-122AG[3]
  • NM_001408494.1:c.66_67AG[3]
  • NM_001408495.1:c.66_67AG[3]
  • NM_001408496.1:c.-22_-21AG[3]
  • NM_001408497.1:c.-199_-198AG[3]
  • NM_001408498.1:c.-22_-21AG[3]
  • NM_001408499.1:c.-195_-194AG[3]
  • NM_001408500.1:c.-195_-194AG[3]
  • NM_001408501.1:c.-192_-191AG[3]
  • NM_001408502.1:c.-123_-122AG[3]
  • NM_001408503.1:c.-195_-194AG[3]
  • NM_001408504.1:c.-195_-194AG[3]
  • NM_001408506.1:c.-123_-122AG[3]
  • NM_001408507.1:c.-123_-122AG[3]
  • NM_001408508.1:c.-123_-122AG[3]
  • NM_001408509.1:c.-123_-122AG[3]
  • NM_001408513.1:c.-242_-241AG[3]
  • NM_001408514.1:c.-123_-122AG[3]
  • NM_007294.4:c.68_69dupMANE SELECT
  • NM_007297.4:c.-22AG[3]
  • NM_007298.4:c.66_67AG[3]
  • NM_007299.4:c.68_69dup
  • NM_007300.4:c.68_69dup
  • NM_007304.2:c.66_67AG[3]
  • NP_001394510.1:p.Cys24Serfs
  • NP_001394511.1:p.Cys24Serfs
  • NP_001394512.1:p.Cys24Serfs
  • NP_001394514.1:p.Cys24Serfs
  • NP_001394516.1:p.Cys24Serfs
  • NP_001394519.1:p.Cys24Serfs
  • NP_001394520.1:p.Cys24Serfs
  • NP_001394522.1:p.Cys24Serfs
  • NP_001394523.1:p.Cys24Serfs
  • NP_001394525.1:p.Cys24Serfs
  • NP_001394526.1:p.Cys24Serfs
  • NP_001394527.1:p.Cys24Serfs
  • NP_001394531.1:p.Cys24Serfs
  • NP_001394532.1:p.Cys24Serfs
  • NP_001394534.1:p.Cys24Serfs
  • NP_001394539.1:p.Cys24Serfs
  • NP_001394540.1:p.Cys24Serfs
  • NP_001394541.1:p.Cys24Serfs
  • NP_001394542.1:p.Cys24Serfs
  • NP_001394543.1:p.Cys24Serfs
  • NP_001394544.1:p.Cys24Serfs
  • NP_001394545.1:p.Cys24Serfs
  • NP_001394546.1:p.Cys24Serfs
  • NP_001394547.1:p.Cys24Serfs
  • NP_001394548.1:p.Cys24Serfs
  • NP_001394549.1:p.Cys24Serfs
  • NP_001394550.1:p.Cys24Serfs
  • NP_001394551.1:p.Cys24Serfs
  • NP_001394552.1:p.Cys24Serfs
  • NP_001394553.1:p.Cys24Serfs
  • NP_001394554.1:p.Cys24Serfs
  • NP_001394555.1:p.Cys24Serfs
  • NP_001394556.1:p.Cys24Serfs
  • NP_001394557.1:p.Cys24Serfs
  • NP_001394558.1:p.Cys24Serfs
  • NP_001394559.1:p.Cys24Serfs
  • NP_001394560.1:p.Cys24Serfs
  • NP_001394561.1:p.Cys24Serfs
  • NP_001394562.1:p.Cys24Serfs
  • NP_001394563.1:p.Cys24Serfs
  • NP_001394564.1:p.Cys24Serfs
  • NP_001394565.1:p.Cys24Serfs
  • NP_001394566.1:p.Cys24Serfs
  • NP_001394567.1:p.Cys24Serfs
  • NP_001394568.1:p.Cys24Serfs
  • NP_001394569.1:p.Cys24Serfs
  • NP_001394570.1:p.Cys24Serfs
  • NP_001394571.1:p.Cys24Serfs
  • NP_001394573.1:p.Cys24Serfs
  • NP_001394574.1:p.Cys24Serfs
  • NP_001394575.1:p.Cys24Serfs
  • NP_001394576.1:p.Cys24Serfs
  • NP_001394577.1:p.Cys24Serfs
  • NP_001394578.1:p.Cys24Serfs
  • NP_001394581.1:p.Cys24Serfs
  • NP_001394582.1:p.Cys24Serfs
  • NP_001394583.1:p.Cys24Serfs
  • NP_001394584.1:p.Cys24Serfs
  • NP_001394585.1:p.Cys24Serfs
  • NP_001394586.1:p.Cys24Serfs
  • NP_001394587.1:p.Cys24Serfs
  • NP_001394588.1:p.Cys24Serfs
  • NP_001394589.1:p.Cys24Serfs
  • NP_001394590.1:p.Cys24Serfs
  • NP_001394591.1:p.Cys24Serfs
  • NP_001394592.1:p.Cys24Serfs
  • NP_001394593.1:p.Cys24Serfs
  • NP_001394594.1:p.Cys24Serfs
  • NP_001394595.1:p.Cys24Serfs
  • NP_001394596.1:p.Cys24Serfs
  • NP_001394597.1:p.Cys24Serfs
  • NP_001394598.1:p.Cys24Serfs
  • NP_001394599.1:p.Cys24Serfs
  • NP_001394600.1:p.Cys24Serfs
  • NP_001394601.1:p.Cys24Serfs
  • NP_001394602.1:p.Cys24Serfs
  • NP_001394603.1:p.Cys24Serfs
  • NP_001394604.1:p.Cys24Serfs
  • NP_001394605.1:p.Cys24Serfs
  • NP_001394606.1:p.Cys24Serfs
  • NP_001394607.1:p.Cys24Serfs
  • NP_001394608.1:p.Cys24Serfs
  • NP_001394609.1:p.Cys24Serfs
  • NP_001394610.1:p.Cys24Serfs
  • NP_001394611.1:p.Cys24Serfs
  • NP_001394612.1:p.Cys24Serfs
  • NP_001394613.1:p.Cys24Serfs
  • NP_001394614.1:p.Cys24Serfs
  • NP_001394615.1:p.Cys24Serfs
  • NP_001394616.1:p.Cys24Serfs
  • NP_001394617.1:p.Cys24Serfs
  • NP_001394618.1:p.Cys24Serfs
  • NP_001394619.1:p.Cys24Serfs
  • NP_001394620.1:p.Cys24Serfs
  • NP_001394783.1:p.Cys24Serfs
  • NP_001394787.1:p.Cys24Serfs
  • NP_001394788.1:p.Cys24Serfs
  • NP_001394789.1:p.Cys24Serfs
  • NP_001394790.1:p.Cys24Serfs
  • NP_001394791.1:p.Cys24Serfs
  • NP_001394792.1:p.Cys24Serfs
  • NP_001394803.1:p.Cys24Serfs
  • NP_001394804.1:p.Cys24Serfs
  • NP_001394848.1:p.Cys24Serfs
  • NP_001394866.1:p.Cys24Serfs
  • NP_001394867.1:p.Cys24Serfs
  • NP_001394868.1:p.Cys24Serfs
  • NP_001394869.1:p.Cys24Serfs
  • NP_001394870.1:p.Cys24Serfs
  • NP_001394897.1:p.Cys24Serfs
  • NP_001394898.1:p.Cys24Serfs
  • NP_001394899.1:p.Cys24Serfs
  • NP_001394900.1:p.Cys24Serfs
  • NP_001394901.1:p.Cys24Serfs
  • NP_001394902.1:p.Cys24Serfs
  • NP_001394903.1:p.Cys24Serfs
  • NP_001394904.1:p.Cys24Serfs
  • NP_001394905.1:p.Cys24Serfs
  • NP_001394906.1:p.Cys24Serfs
  • NP_001394907.1:p.Cys24Serfs
  • NP_001394908.1:p.Cys24Serfs
  • NP_001394909.1:p.Cys24Serfs
  • NP_001394910.1:p.Cys24Serfs
  • NP_001394911.1:p.Cys24Serfs
  • NP_001394912.1:p.Cys24Serfs
  • NP_001394913.1:p.Cys24Serfs
  • NP_001394914.1:p.Cys24Serfs
  • NP_001394915.1:p.Cys24Serfs
  • NP_001394919.1:p.Cys24Serfs
  • NP_001394920.1:p.Cys24Serfs
  • NP_001394921.1:p.Cys24Serfs
  • NP_001394922.1:p.Cys24Serfs
  • NP_001395321.1:p.Cys24Serfs
  • NP_001395325.1:p.Cys24Serfs
  • NP_001395326.1:p.Cys24Serfs
  • NP_001395327.1:p.Cys24Serfs
  • NP_001395328.1:p.Cys24Serfs
  • NP_001395329.1:p.Cys24Serfs
  • NP_001395330.1:p.Cys24Serfs
  • NP_001395331.1:p.Cys24Serfs
  • NP_001395332.1:p.Cys24Serfs
  • NP_001395333.1:p.Cys24Serfs
  • NP_001395335.1:p.Cys24Serfs
  • NP_001395336.1:p.Cys24Serfs
  • NP_001395337.1:p.Cys24Serfs
  • NP_001395338.1:p.Cys24Serfs
  • NP_001395340.1:p.Cys24Serfs
  • NP_001395341.1:p.Cys24Serfs
  • NP_001395342.1:p.Cys24Serfs
  • NP_001395343.1:p.Cys24Serfs
  • NP_001395344.1:p.Cys24Serfs
  • NP_001395345.1:p.Cys24Serfs
  • NP_001395347.1:p.Cys24Serfs
  • NP_001395348.1:p.Cys24Serfs
  • NP_001395349.1:p.Cys24Serfs
  • NP_001395350.1:p.Cys24Serfs
  • NP_001395351.1:p.Cys24Serfs
  • NP_001395352.1:p.Cys24Serfs
  • NP_001395353.1:p.Cys24Serfs
  • NP_001395354.1:p.Cys24Serfs
  • NP_001395355.1:p.Cys24Serfs
  • NP_001395356.1:p.Cys24Serfs
  • NP_001395357.1:p.Cys24Serfs
  • NP_001395358.1:p.Cys24Serfs
  • NP_001395359.1:p.Cys24Serfs
  • NP_001395360.1:p.Cys24Serfs
  • NP_001395361.1:p.Cys24Serfs
  • NP_001395362.1:p.Cys24Serfs
  • NP_001395363.1:p.Cys24Serfs
  • NP_001395364.1:p.Cys24Serfs
  • NP_001395365.1:p.Cys24Serfs
  • NP_001395366.1:p.Cys24Serfs
  • NP_001395367.1:p.Cys24Serfs
  • NP_001395368.1:p.Cys24Serfs
  • NP_001395369.1:p.Cys24Serfs
  • NP_001395370.1:p.Cys24Serfs
  • NP_001395371.1:p.Cys24Serfs
  • NP_001395372.1:p.Cys24Serfs
  • NP_001395373.1:p.Cys24Serfs
  • NP_001395374.1:p.Cys24Serfs
  • NP_001395375.1:p.Cys24Serfs
  • NP_001395376.1:p.Cys24Serfs
  • NP_001395377.1:p.Cys24Serfs
  • NP_001395379.1:p.Cys24Serfs
  • NP_001395380.1:p.Cys24Serfs
  • NP_001395401.1:p.Cys24Serfs
  • NP_001395402.1:p.Cys24Serfs
  • NP_001395403.1:p.Cys24Serfs
  • NP_001395404.1:p.Cys24Serfs
  • NP_001395405.1:p.Cys24Serfs
  • NP_001395423.1:p.Cys24Serfs
  • NP_001395424.1:p.Cys24Serfs
  • NP_009225.1:p.Cys24Serfs
  • NP_009225.1:p.Cys24fs
  • NP_009229.2:p.Cys24Serfs
  • NP_009229.2:p.Cys24fs
  • NP_009230.2:p.Cys24fs
  • NP_009231.2:p.Cys24fs
  • NP_009235.2:p.Cys24Serfs
  • LRG_292t1:c.66_67AG[3]
  • LRG_292:g.93953AG[3]
  • LRG_292p1:p.Cys24Serfs
  • NC_000017.10:g.41276044_41276045insCT
  • NC_000017.10:g.41276045CT[3]
  • NM_007294.3:c.66_67AG[3]
  • NM_007294.3:c.68_69dupAG
  • NM_007294.4:c.68_69dup
  • NM_007298.3:c.68_69dup
  • NR_027676.2:n.268AG[3]
  • U14680.1:n.188_189insAG
  • p.Cys24Serfs*8
Nucleotide change:
188insAG
Protein change:
C24fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 188&base_change=ins AG; dbSNP: rs80357914
NCBI 1000 Genomes Browser:
rs80357914
Molecular consequence:
  • NM_007297.4:c.-22AG[3] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407581.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407971.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407972.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407973.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407974.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407975.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407976.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407977.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407978.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407979.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407980.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407981.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407982.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407983.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407984.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407985.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407986.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407990.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407991.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407992.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407993.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408392.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408396.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408397.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408398.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408399.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408400.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408401.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408402.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408403.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408404.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408406.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408407.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408408.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408409.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408411.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408412.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408413.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408414.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408415.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408416.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408418.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408419.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408420.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408421.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408422.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408423.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408424.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408425.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408426.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408427.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408428.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408429.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408430.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408431.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408432.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408433.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408434.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408435.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408436.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408437.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408438.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408439.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408440.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408441.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408442.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408443.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408444.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408445.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408446.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408447.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408448.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408450.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408451.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408472.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408473.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408474.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408475.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408476.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408494.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408495.1:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.68_69dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.4:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007299.4:c.68_69dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.68_69dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007304.2:c.66_67AG[3] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027676.2:n.268AG[3] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000273758Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Pathogenic
(Sep 11, 2020) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

Borg A, Haile RW, Malone KE, Capanu M, Diep A, Törngren T, Teraoka S, Begg CB, Thomas DC, Concannon P, Mellemkjaer L, Bernstein L, Tellhed L, Xue S, Olson ER, Liang X, Dolle J, Børresen-Dale AL, Bernstein JL.

Hum Mutat. 2010 Mar;31(3):E1200-40. doi: 10.1002/humu.21202.

PubMed [citation]
PMID:
20104584
PMCID:
PMC2928257

Addressing health disparities in Hispanic breast cancer: accurate and inexpensive sequencing of BRCA1 and BRCA2.

Dean M, Boland J, Yeager M, Im KM, Garland L, Rodriguez-Herrera M, Perez M, Mitchell J, Roberson D, Jones K, Lee HJ, Eggebeen R, Sawitzke J, Bass S, Zhang X, Robles V, Hollis C, Barajas C, Rath E, Arentz C, Figueroa JA, Nguyen DD, et al.

Gigascience. 2015;4:50. doi: 10.1186/s13742-015-0088-z.

PubMed [citation]
PMID:
26543556
PMCID:
PMC4634732
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000273758.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)

Description

The c.68_69dupAG pathogenic mutation, located in coding exon 1 of the BRCA1 gene, results from a duplication of AG at nucleotide position 68, causing a translational frameshift with a predicted alternate stop codon (p.C24Sfs*8). This alteration has been reported in several breast cancer patients (Borg A et al. Hum. Mutat., 2010 Mar;31:E1200-40; Dean M et al. Gigascience, 2015 Nov;4:50; Quezada Urban R et al. Cancers (Basel), 2018 Sep;10:; Millan Catalan O et al. Cancers (Basel), 2019 Aug;11:). Of note, this alteration is also designated as 188insAG 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
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 15, 2024