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NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) AND Triple-negative breast cancer

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 11, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003225925.8

Allele description [Variation Report for NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)]

NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)

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_69del (p.Glu23fs)
Other names:
NP_009225.1:p.Glu23ValfsTer17; NM_007294.4(BRCA1):c.68_69del
HGVS:
  • NC_000017.10:g.41276045_41276046del
  • NC_000017.11:g.43124028CT[1]
  • NG_005905.2:g.93953AG[1]
  • NM_001407571.1:c.-123_-122AG[1]
  • NM_001407581.1:c.66_67AG[1]
  • NM_001407582.1:c.66_67AG[1]
  • NM_001407583.1:c.66_67AG[1]
  • NM_001407585.1:c.66_67AG[1]
  • NM_001407587.1:c.66_67AG[1]
  • NM_001407590.1:c.66_67AG[1]
  • NM_001407591.1:c.66_67AG[1]
  • NM_001407593.1:c.66_67AG[1]
  • NM_001407594.1:c.66_67AG[1]
  • NM_001407596.1:c.66_67AG[1]
  • NM_001407597.1:c.66_67AG[1]
  • NM_001407598.1:c.66_67AG[1]
  • NM_001407602.1:c.66_67AG[1]
  • NM_001407603.1:c.66_67AG[1]
  • NM_001407605.1:c.66_67AG[1]
  • NM_001407610.1:c.66_67AG[1]
  • NM_001407611.1:c.66_67AG[1]
  • NM_001407612.1:c.66_67AG[1]
  • NM_001407613.1:c.66_67AG[1]
  • NM_001407614.1:c.66_67AG[1]
  • NM_001407615.1:c.66_67AG[1]
  • NM_001407616.1:c.66_67AG[1]
  • NM_001407617.1:c.66_67AG[1]
  • NM_001407618.1:c.66_67AG[1]
  • NM_001407619.1:c.66_67AG[1]
  • NM_001407620.1:c.66_67AG[1]
  • NM_001407621.1:c.66_67AG[1]
  • NM_001407622.1:c.66_67AG[1]
  • NM_001407623.1:c.66_67AG[1]
  • NM_001407624.1:c.66_67AG[1]
  • NM_001407625.1:c.66_67AG[1]
  • NM_001407626.1:c.66_67AG[1]
  • NM_001407627.1:c.66_67AG[1]
  • NM_001407628.1:c.66_67AG[1]
  • NM_001407629.1:c.66_67AG[1]
  • NM_001407630.1:c.66_67AG[1]
  • NM_001407631.1:c.66_67AG[1]
  • NM_001407632.1:c.66_67AG[1]
  • NM_001407633.1:c.66_67AG[1]
  • NM_001407634.1:c.66_67AG[1]
  • NM_001407635.1:c.66_67AG[1]
  • NM_001407636.1:c.66_67AG[1]
  • NM_001407637.1:c.66_67AG[1]
  • NM_001407638.1:c.66_67AG[1]
  • NM_001407639.1:c.66_67AG[1]
  • NM_001407640.1:c.66_67AG[1]
  • NM_001407641.1:c.66_67AG[1]
  • NM_001407642.1:c.66_67AG[1]
  • NM_001407644.1:c.66_67AG[1]
  • NM_001407645.1:c.66_67AG[1]
  • NM_001407646.1:c.66_67AG[1]
  • NM_001407647.1:c.66_67AG[1]
  • NM_001407648.1:c.66_67AG[1]
  • NM_001407649.1:c.66_67AG[1]
  • NM_001407652.1:c.66_67AG[1]
  • NM_001407653.1:c.66_67AG[1]
  • NM_001407654.1:c.66_67AG[1]
  • NM_001407655.1:c.66_67AG[1]
  • NM_001407656.1:c.66_67AG[1]
  • NM_001407657.1:c.66_67AG[1]
  • NM_001407658.1:c.66_67AG[1]
  • NM_001407659.1:c.66_67AG[1]
  • NM_001407660.1:c.66_67AG[1]
  • NM_001407661.1:c.66_67AG[1]
  • NM_001407662.1:c.66_67AG[1]
  • NM_001407663.1:c.66_67AG[1]
  • NM_001407664.1:c.66_67AG[1]
  • NM_001407665.1:c.66_67AG[1]
  • NM_001407666.1:c.66_67AG[1]
  • NM_001407667.1:c.66_67AG[1]
  • NM_001407668.1:c.66_67AG[1]
  • NM_001407669.1:c.66_67AG[1]
  • NM_001407670.1:c.66_67AG[1]
  • NM_001407671.1:c.66_67AG[1]
  • NM_001407672.1:c.66_67AG[1]
  • NM_001407673.1:c.66_67AG[1]
  • NM_001407674.1:c.66_67AG[1]
  • NM_001407675.1:c.66_67AG[1]
  • NM_001407676.1:c.66_67AG[1]
  • NM_001407677.1:c.66_67AG[1]
  • NM_001407678.1:c.66_67AG[1]
  • NM_001407679.1:c.66_67AG[1]
  • NM_001407680.1:c.66_67AG[1]
  • NM_001407681.1:c.66_67AG[1]
  • NM_001407682.1:c.66_67AG[1]
  • NM_001407683.1:c.66_67AG[1]
  • NM_001407684.1:c.66_67AG[1]
  • NM_001407685.1:c.66_67AG[1]
  • NM_001407686.1:c.66_67AG[1]
  • NM_001407687.1:c.66_67AG[1]
  • NM_001407688.1:c.66_67AG[1]
  • NM_001407689.1:c.66_67AG[1]
  • NM_001407690.1:c.66_67AG[1]
  • NM_001407691.1:c.66_67AG[1]
  • NM_001407694.1:c.-192_-191AG[1]
  • NM_001407695.1:c.-196_-195AG[1]
  • NM_001407696.1:c.-337_-336AG[1]
  • NM_001407697.1:c.-221_-220AG[1]
  • NM_001407698.1:c.-22_-21AG[1]
  • NM_001407724.1:c.-192_-191AG[1]
  • NM_001407725.1:c.-195_-194AG[1]
  • NM_001407726.1:c.-141_-140AG[1]
  • NM_001407727.1:c.-192_-191AG[1]
  • NM_001407730.1:c.-195_-194AG[1]
  • NM_001407731.1:c.-192_-191AG[1]
  • NM_001407732.1:c.-22_-21AG[1]
  • NM_001407733.1:c.-192_-191AG[1]
  • NM_001407734.1:c.-195_-194AG[1]
  • NM_001407736.1:c.-22_-21AG[1]
  • NM_001407738.1:c.-22_-21AG[1]
  • NM_001407739.1:c.-195_-194AG[1]
  • NM_001407740.1:c.-195_-194AG[1]
  • NM_001407741.1:c.-199_-198AG[1]
  • NM_001407742.1:c.-22_-21AG[1]
  • NM_001407744.1:c.-22_-21AG[1]
  • NM_001407748.1:c.-195_-194AG[1]
  • NM_001407749.1:c.-192_-191AG[1]
  • NM_001407750.1:c.-22_-21AG[1]
  • NM_001407751.1:c.-141_-140AG[1]
  • NM_001407752.1:c.-195_-194AG[1]
  • NM_001407838.1:c.-195_-194AG[1]
  • NM_001407841.1:c.-72_-71AG[1]
  • NM_001407842.1:c.-192_-191AG[1]
  • NM_001407843.1:c.-192_-191AG[1]
  • NM_001407845.1:c.-22_-21AG[1]
  • NM_001407846.1:c.-221_-220AG[1]
  • NM_001407847.1:c.-195_-194AG[1]
  • NM_001407849.1:c.-22_-21AG[1]
  • NM_001407850.1:c.-195_-194AG[1]
  • NM_001407852.1:c.-22_-21AG[1]
  • NM_001407853.1:c.-123_-122AG[1]
  • NM_001407854.1:c.66_67AG[1]
  • NM_001407858.1:c.66_67AG[1]
  • NM_001407859.1:c.66_67AG[1]
  • NM_001407860.1:c.66_67AG[1]
  • NM_001407861.1:c.66_67AG[1]
  • NM_001407862.1:c.66_67AG[1]
  • NM_001407863.1:c.66_67AG[1]
  • NM_001407874.1:c.66_67AG[1]
  • NM_001407875.1:c.66_67AG[1]
  • NM_001407879.1:c.-123_-122AG[1]
  • NM_001407881.1:c.-69_-68AG[1]
  • NM_001407882.1:c.-123_-122AG[1]
  • NM_001407884.1:c.-123_-122AG[1]
  • NM_001407886.1:c.-123_-122AG[1]
  • NM_001407887.1:c.-123_-122AG[1]
  • NM_001407889.1:c.-239_-238AG[1]
  • NM_001407894.1:c.-123_-122AG[1]
  • NM_001407895.1:c.-123_-122AG[1]
  • NM_001407897.1:c.-123_-122AG[1]
  • NM_001407898.1:c.-69_-68AG[1]
  • NM_001407899.1:c.-123_-122AG[1]
  • NM_001407902.1:c.-69_-68AG[1]
  • NM_001407904.1:c.-123_-122AG[1]
  • NM_001407906.1:c.-123_-122AG[1]
  • NM_001407907.1:c.-123_-122AG[1]
  • NM_001407908.1:c.-123_-122AG[1]
  • NM_001407909.1:c.-123_-122AG[1]
  • NM_001407910.1:c.-123_-122AG[1]
  • NM_001407915.1:c.-123_-122AG[1]
  • NM_001407916.1:c.-123_-122AG[1]
  • NM_001407917.1:c.-242_-241AG[1]
  • NM_001407918.1:c.-123_-122AG[1]
  • NM_001407919.1:c.66_67AG[1]
  • NM_001407920.1:c.-221_-220AG[1]
  • NM_001407921.1:c.-195_-194AG[1]
  • NM_001407923.1:c.-195_-194AG[1]
  • NM_001407924.1:c.-22_-21AG[1]
  • NM_001407925.1:c.-22_-21AG[1]
  • NM_001407927.1:c.-195_-194AG[1]
  • NM_001407928.1:c.-22_-21AG[1]
  • NM_001407929.1:c.-22_-21AG[1]
  • NM_001407930.1:c.-192_-191AG[1]
  • NM_001407932.1:c.-22_-21AG[1]
  • NM_001407933.1:c.-195_-194AG[1]
  • NM_001407934.1:c.-199_-198AG[1]
  • NM_001407936.1:c.-22_-21AG[1]
  • NM_001407937.1:c.66_67AG[1]
  • NM_001407938.1:c.66_67AG[1]
  • NM_001407939.1:c.66_67AG[1]
  • NM_001407940.1:c.66_67AG[1]
  • NM_001407941.1:c.66_67AG[1]
  • NM_001407942.1:c.-192_-191AG[1]
  • NM_001407943.1:c.-195_-194AG[1]
  • NM_001407944.1:c.-195_-194AG[1]
  • NM_001407945.1:c.-22_-21AG[1]
  • NM_001407946.1:c.-123_-122AG[1]
  • NM_001407947.1:c.-123_-122AG[1]
  • NM_001407948.1:c.-123_-122AG[1]
  • NM_001407949.1:c.-123_-122AG[1]
  • NM_001407950.1:c.-123_-122AG[1]
  • NM_001407951.1:c.-123_-122AG[1]
  • NM_001407952.1:c.-123_-122AG[1]
  • NM_001407953.1:c.-123_-122AG[1]
  • NM_001407954.1:c.-242_-241AG[1]
  • NM_001407955.1:c.-123_-122AG[1]
  • NM_001407956.1:c.-123_-122AG[1]
  • NM_001407957.1:c.-123_-122AG[1]
  • NM_001407958.1:c.-123_-122AG[1]
  • NM_001407965.1:c.-354_-353AG[1]
  • NM_001407968.1:c.66_67AG[1]
  • NM_001407969.1:c.66_67AG[1]
  • NM_001407970.1:c.66_67AG[1]
  • NM_001407971.1:c.66_67AG[1]
  • NM_001407972.1:c.66_67AG[1]
  • NM_001407973.1:c.66_67AG[1]
  • NM_001407974.1:c.66_67AG[1]
  • NM_001407975.1:c.66_67AG[1]
  • NM_001407976.1:c.66_67AG[1]
  • NM_001407977.1:c.66_67AG[1]
  • NM_001407978.1:c.66_67AG[1]
  • NM_001407979.1:c.66_67AG[1]
  • NM_001407980.1:c.66_67AG[1]
  • NM_001407981.1:c.66_67AG[1]
  • NM_001407982.1:c.66_67AG[1]
  • NM_001407983.1:c.66_67AG[1]
  • NM_001407984.1:c.66_67AG[1]
  • NM_001407985.1:c.66_67AG[1]
  • NM_001407986.1:c.66_67AG[1]
  • NM_001407990.1:c.66_67AG[1]
  • NM_001407991.1:c.66_67AG[1]
  • NM_001407992.1:c.66_67AG[1]
  • NM_001407993.1:c.66_67AG[1]
  • NM_001408392.1:c.66_67AG[1]
  • NM_001408396.1:c.66_67AG[1]
  • NM_001408397.1:c.66_67AG[1]
  • NM_001408398.1:c.66_67AG[1]
  • NM_001408399.1:c.66_67AG[1]
  • NM_001408400.1:c.66_67AG[1]
  • NM_001408401.1:c.66_67AG[1]
  • NM_001408402.1:c.66_67AG[1]
  • NM_001408403.1:c.66_67AG[1]
  • NM_001408404.1:c.66_67AG[1]
  • NM_001408406.1:c.66_67AG[1]
  • NM_001408407.1:c.66_67AG[1]
  • NM_001408408.1:c.66_67AG[1]
  • NM_001408409.1:c.66_67AG[1]
  • NM_001408410.1:c.-195_-194AG[1]
  • NM_001408411.1:c.66_67AG[1]
  • NM_001408412.1:c.66_67AG[1]
  • NM_001408413.1:c.66_67AG[1]
  • NM_001408414.1:c.66_67AG[1]
  • NM_001408415.1:c.66_67AG[1]
  • NM_001408416.1:c.66_67AG[1]
  • NM_001408418.1:c.66_67AG[1]
  • NM_001408419.1:c.66_67AG[1]
  • NM_001408420.1:c.66_67AG[1]
  • NM_001408421.1:c.66_67AG[1]
  • NM_001408422.1:c.66_67AG[1]
  • NM_001408423.1:c.66_67AG[1]
  • NM_001408424.1:c.66_67AG[1]
  • NM_001408425.1:c.66_67AG[1]
  • NM_001408426.1:c.66_67AG[1]
  • NM_001408427.1:c.66_67AG[1]
  • NM_001408428.1:c.66_67AG[1]
  • NM_001408429.1:c.66_67AG[1]
  • NM_001408430.1:c.66_67AG[1]
  • NM_001408431.1:c.66_67AG[1]
  • NM_001408432.1:c.66_67AG[1]
  • NM_001408433.1:c.66_67AG[1]
  • NM_001408434.1:c.66_67AG[1]
  • NM_001408435.1:c.66_67AG[1]
  • NM_001408436.1:c.66_67AG[1]
  • NM_001408437.1:c.66_67AG[1]
  • NM_001408438.1:c.66_67AG[1]
  • NM_001408439.1:c.66_67AG[1]
  • NM_001408440.1:c.66_67AG[1]
  • NM_001408441.1:c.66_67AG[1]
  • NM_001408442.1:c.66_67AG[1]
  • NM_001408443.1:c.66_67AG[1]
  • NM_001408444.1:c.66_67AG[1]
  • NM_001408445.1:c.66_67AG[1]
  • NM_001408446.1:c.66_67AG[1]
  • NM_001408447.1:c.66_67AG[1]
  • NM_001408448.1:c.66_67AG[1]
  • NM_001408450.1:c.66_67AG[1]
  • NM_001408451.1:c.66_67AG[1]
  • NM_001408452.1:c.-195_-194AG[1]
  • NM_001408454.1:c.-22_-21AG[1]
  • NM_001408455.1:c.-192_-191AG[1]
  • NM_001408456.1:c.-192_-191AG[1]
  • NM_001408459.1:c.-22_-21AG[1]
  • NM_001408460.1:c.-22_-21AG[1]
  • NM_001408461.1:c.-22_-21AG[1]
  • NM_001408462.1:c.-195_-194AG[1]
  • NM_001408463.1:c.-195_-194AG[1]
  • NM_001408464.1:c.-22_-21AG[1]
  • NM_001408465.1:c.-196_-195AG[1]
  • NM_001408466.1:c.-195_-194AG[1]
  • NM_001408467.1:c.-22_-21AG[1]
  • NM_001408468.1:c.-192_-191AG[1]
  • NM_001408472.1:c.66_67AG[1]
  • NM_001408473.1:c.66_67AG[1]
  • NM_001408474.1:c.66_67AG[1]
  • NM_001408475.1:c.66_67AG[1]
  • NM_001408476.1:c.66_67AG[1]
  • NM_001408478.1:c.-123_-122AG[1]
  • NM_001408479.1:c.-123_-122AG[1]
  • NM_001408480.1:c.-123_-122AG[1]
  • NM_001408481.1:c.-123_-122AG[1]
  • NM_001408482.1:c.-268_-267AG[1]
  • NM_001408483.1:c.-123_-122AG[1]
  • NM_001408484.1:c.-123_-122AG[1]
  • NM_001408485.1:c.-123_-122AG[1]
  • NM_001408489.1:c.-123_-122AG[1]
  • NM_001408490.1:c.-123_-122AG[1]
  • NM_001408491.1:c.-123_-122AG[1]
  • NM_001408492.1:c.-239_-238AG[1]
  • NM_001408493.1:c.-123_-122AG[1]
  • NM_001408494.1:c.66_67AG[1]
  • NM_001408495.1:c.66_67AG[1]
  • NM_001408496.1:c.-22_-21AG[1]
  • NM_001408497.1:c.-199_-198AG[1]
  • NM_001408498.1:c.-22_-21AG[1]
  • NM_001408499.1:c.-195_-194AG[1]
  • NM_001408500.1:c.-195_-194AG[1]
  • NM_001408501.1:c.-192_-191AG[1]
  • NM_001408502.1:c.-123_-122AG[1]
  • NM_001408503.1:c.-195_-194AG[1]
  • NM_001408504.1:c.-195_-194AG[1]
  • NM_001408506.1:c.-123_-122AG[1]
  • NM_001408507.1:c.-123_-122AG[1]
  • NM_001408508.1:c.-123_-122AG[1]
  • NM_001408509.1:c.-123_-122AG[1]
  • NM_001408513.1:c.-242_-241AG[1]
  • NM_001408514.1:c.-123_-122AG[1]
  • NM_007294.4:c.68_69delMANE SELECT
  • NM_007294.4:c.68_69delAG
  • NM_007297.4:c.-22AG[1]
  • NM_007298.4:c.66_67AG[1]
  • NM_007299.4:c.68_69del
  • NM_007300.4:c.68_69del
  • NM_007304.2:c.66_67AG[1]
  • NP_001394510.1:p.Glu23Valfs
  • NP_001394511.1:p.Glu23Valfs
  • NP_001394512.1:p.Glu23Valfs
  • NP_001394514.1:p.Glu23Valfs
  • NP_001394516.1:p.Glu23Valfs
  • NP_001394519.1:p.Glu23Valfs
  • NP_001394520.1:p.Glu23Valfs
  • NP_001394522.1:p.Glu23Valfs
  • NP_001394523.1:p.Glu23Valfs
  • NP_001394525.1:p.Glu23Valfs
  • NP_001394526.1:p.Glu23Valfs
  • NP_001394527.1:p.Glu23Valfs
  • NP_001394531.1:p.Glu23Valfs
  • NP_001394532.1:p.Glu23Valfs
  • NP_001394534.1:p.Glu23Valfs
  • NP_001394539.1:p.Glu23Valfs
  • NP_001394540.1:p.Glu23Valfs
  • NP_001394541.1:p.Glu23Valfs
  • NP_001394542.1:p.Glu23Valfs
  • NP_001394543.1:p.Glu23Valfs
  • NP_001394544.1:p.Glu23Valfs
  • NP_001394545.1:p.Glu23Valfs
  • NP_001394546.1:p.Glu23Valfs
  • NP_001394547.1:p.Glu23Valfs
  • NP_001394548.1:p.Glu23Valfs
  • NP_001394549.1:p.Glu23Valfs
  • NP_001394550.1:p.Glu23Valfs
  • NP_001394551.1:p.Glu23Valfs
  • NP_001394552.1:p.Glu23Valfs
  • NP_001394553.1:p.Glu23Valfs
  • NP_001394554.1:p.Glu23Valfs
  • NP_001394555.1:p.Glu23Valfs
  • NP_001394556.1:p.Glu23Valfs
  • NP_001394557.1:p.Glu23Valfs
  • NP_001394558.1:p.Glu23Valfs
  • NP_001394559.1:p.Glu23Valfs
  • NP_001394560.1:p.Glu23Valfs
  • NP_001394561.1:p.Glu23Valfs
  • NP_001394562.1:p.Glu23Valfs
  • NP_001394563.1:p.Glu23Valfs
  • NP_001394564.1:p.Glu23Valfs
  • NP_001394565.1:p.Glu23Valfs
  • NP_001394566.1:p.Glu23Valfs
  • NP_001394567.1:p.Glu23Valfs
  • NP_001394568.1:p.Glu23Valfs
  • NP_001394569.1:p.Glu23Valfs
  • NP_001394570.1:p.Glu23Valfs
  • NP_001394571.1:p.Glu23Valfs
  • NP_001394573.1:p.Glu23Valfs
  • NP_001394574.1:p.Glu23Valfs
  • NP_001394575.1:p.Glu23Valfs
  • NP_001394576.1:p.Glu23Valfs
  • NP_001394577.1:p.Glu23Valfs
  • NP_001394578.1:p.Glu23Valfs
  • NP_001394581.1:p.Glu23Valfs
  • NP_001394582.1:p.Glu23Valfs
  • NP_001394583.1:p.Glu23Valfs
  • NP_001394584.1:p.Glu23Valfs
  • NP_001394585.1:p.Glu23Valfs
  • NP_001394586.1:p.Glu23Valfs
  • NP_001394587.1:p.Glu23Valfs
  • NP_001394588.1:p.Glu23Valfs
  • NP_001394589.1:p.Glu23Valfs
  • NP_001394590.1:p.Glu23Valfs
  • NP_001394591.1:p.Glu23Valfs
  • NP_001394592.1:p.Glu23Valfs
  • NP_001394593.1:p.Glu23Valfs
  • NP_001394594.1:p.Glu23Valfs
  • NP_001394595.1:p.Glu23Valfs
  • NP_001394596.1:p.Glu23Valfs
  • NP_001394597.1:p.Glu23Valfs
  • NP_001394598.1:p.Glu23Valfs
  • NP_001394599.1:p.Glu23Valfs
  • NP_001394600.1:p.Glu23Valfs
  • NP_001394601.1:p.Glu23Valfs
  • NP_001394602.1:p.Glu23Valfs
  • NP_001394603.1:p.Glu23Valfs
  • NP_001394604.1:p.Glu23Valfs
  • NP_001394605.1:p.Glu23Valfs
  • NP_001394606.1:p.Glu23Valfs
  • NP_001394607.1:p.Glu23Valfs
  • NP_001394608.1:p.Glu23Valfs
  • NP_001394609.1:p.Glu23Valfs
  • NP_001394610.1:p.Glu23Valfs
  • NP_001394611.1:p.Glu23Valfs
  • NP_001394612.1:p.Glu23Valfs
  • NP_001394613.1:p.Glu23Valfs
  • NP_001394614.1:p.Glu23Valfs
  • NP_001394615.1:p.Glu23Valfs
  • NP_001394616.1:p.Glu23Valfs
  • NP_001394617.1:p.Glu23Valfs
  • NP_001394618.1:p.Glu23Valfs
  • NP_001394619.1:p.Glu23Valfs
  • NP_001394620.1:p.Glu23Valfs
  • NP_001394783.1:p.Glu23Valfs
  • NP_001394787.1:p.Glu23Valfs
  • NP_001394788.1:p.Glu23Valfs
  • NP_001394789.1:p.Glu23Valfs
  • NP_001394790.1:p.Glu23Valfs
  • NP_001394791.1:p.Glu23Valfs
  • NP_001394792.1:p.Glu23Valfs
  • NP_001394803.1:p.Glu23Valfs
  • NP_001394804.1:p.Glu23Valfs
  • NP_001394848.1:p.Glu23Valfs
  • NP_001394866.1:p.Glu23Valfs
  • NP_001394867.1:p.Glu23Valfs
  • NP_001394868.1:p.Glu23Valfs
  • NP_001394869.1:p.Glu23Valfs
  • NP_001394870.1:p.Glu23Valfs
  • NP_001394897.1:p.Glu23Valfs
  • NP_001394898.1:p.Glu23Valfs
  • NP_001394899.1:p.Glu23Valfs
  • NP_001394900.1:p.Glu23Valfs
  • NP_001394901.1:p.Glu23Valfs
  • NP_001394902.1:p.Glu23Valfs
  • NP_001394903.1:p.Glu23Valfs
  • NP_001394904.1:p.Glu23Valfs
  • NP_001394905.1:p.Glu23Valfs
  • NP_001394906.1:p.Glu23Valfs
  • NP_001394907.1:p.Glu23Valfs
  • NP_001394908.1:p.Glu23Valfs
  • NP_001394909.1:p.Glu23Valfs
  • NP_001394910.1:p.Glu23Valfs
  • NP_001394911.1:p.Glu23Valfs
  • NP_001394912.1:p.Glu23Valfs
  • NP_001394913.1:p.Glu23Valfs
  • NP_001394914.1:p.Glu23Valfs
  • NP_001394915.1:p.Glu23Valfs
  • NP_001394919.1:p.Glu23Valfs
  • NP_001394920.1:p.Glu23Valfs
  • NP_001394921.1:p.Glu23Valfs
  • NP_001394922.1:p.Glu23Valfs
  • NP_001395321.1:p.Glu23Valfs
  • NP_001395325.1:p.Glu23Valfs
  • NP_001395326.1:p.Glu23Valfs
  • NP_001395327.1:p.Glu23Valfs
  • NP_001395328.1:p.Glu23Valfs
  • NP_001395329.1:p.Glu23Valfs
  • NP_001395330.1:p.Glu23Valfs
  • NP_001395331.1:p.Glu23Valfs
  • NP_001395332.1:p.Glu23Valfs
  • NP_001395333.1:p.Glu23Valfs
  • NP_001395335.1:p.Glu23Valfs
  • NP_001395336.1:p.Glu23Valfs
  • NP_001395337.1:p.Glu23Valfs
  • NP_001395338.1:p.Glu23Valfs
  • NP_001395340.1:p.Glu23Valfs
  • NP_001395341.1:p.Glu23Valfs
  • NP_001395342.1:p.Glu23Valfs
  • NP_001395343.1:p.Glu23Valfs
  • NP_001395344.1:p.Glu23Valfs
  • NP_001395345.1:p.Glu23Valfs
  • NP_001395347.1:p.Glu23Valfs
  • NP_001395348.1:p.Glu23Valfs
  • NP_001395349.1:p.Glu23Valfs
  • NP_001395350.1:p.Glu23Valfs
  • NP_001395351.1:p.Glu23Valfs
  • NP_001395352.1:p.Glu23Valfs
  • NP_001395353.1:p.Glu23Valfs
  • NP_001395354.1:p.Glu23Valfs
  • NP_001395355.1:p.Glu23Valfs
  • NP_001395356.1:p.Glu23Valfs
  • NP_001395357.1:p.Glu23Valfs
  • NP_001395358.1:p.Glu23Valfs
  • NP_001395359.1:p.Glu23Valfs
  • NP_001395360.1:p.Glu23Valfs
  • NP_001395361.1:p.Glu23Valfs
  • NP_001395362.1:p.Glu23Valfs
  • NP_001395363.1:p.Glu23Valfs
  • NP_001395364.1:p.Glu23Valfs
  • NP_001395365.1:p.Glu23Valfs
  • NP_001395366.1:p.Glu23Valfs
  • NP_001395367.1:p.Glu23Valfs
  • NP_001395368.1:p.Glu23Valfs
  • NP_001395369.1:p.Glu23Valfs
  • NP_001395370.1:p.Glu23Valfs
  • NP_001395371.1:p.Glu23Valfs
  • NP_001395372.1:p.Glu23Valfs
  • NP_001395373.1:p.Glu23Valfs
  • NP_001395374.1:p.Glu23Valfs
  • NP_001395375.1:p.Glu23Valfs
  • NP_001395376.1:p.Glu23Valfs
  • NP_001395377.1:p.Glu23Valfs
  • NP_001395379.1:p.Glu23Valfs
  • NP_001395380.1:p.Glu23Valfs
  • NP_001395401.1:p.Glu23Valfs
  • NP_001395402.1:p.Glu23Valfs
  • NP_001395403.1:p.Glu23Valfs
  • NP_001395404.1:p.Glu23Valfs
  • NP_001395405.1:p.Glu23Valfs
  • NP_001395423.1:p.Glu23Valfs
  • NP_001395424.1:p.Glu23Valfs
  • NP_009225.1:p.Glu23Valfs
  • NP_009225.1:p.Glu23fs
  • NP_009229.2:p.Glu23Valfs
  • NP_009229.2:p.Glu23fs
  • NP_009230.2:p.Glu23fs
  • NP_009231.2:p.Glu23fs
  • NP_009235.2:p.Glu23Valfs
  • LRG_292t1:c.66_67AG[1]
  • LRG_292:g.93953AG[1]
  • LRG_292p1:p.Glu23Valfs
  • NC_000017.10:g.41276045CT[1]
  • NC_000017.10:g.41276045_41276046del
  • NC_000017.10:g.41276047_41276048del
  • NC_000017.10:g.41276047_41276048delCT
  • NC_000017.11:g.43124030_43124031del
  • NM_007294.3:c.66_67AG[1]
  • NM_007294.3:c.66_67delAG
  • NM_007294.3:c.68_69del
  • NM_007294.3:c.68_69del
  • NM_007294.3:c.68_69delAG
  • NM_007294.4:c.68_69del
  • NM_007294.4:c.68_69delAGMANE SELECT
  • NM_007298.3:c.68_69del
  • NM_007299.3:c.68_69delAG
  • NM_007300.3:c.66_67delAG
  • NM_007300.3:c.68_69del
  • NM_007300.3:c.68_69delAG
  • NM_007300.4:c.68_69del
  • NR_027676.2:n.268AG[1]
  • U14680.1:c.66_67del
  • U14680.1:n.185_186delAG
  • c.68_69delAG (BIC: 185delAG)
  • c.68_69delAG;p.Glu23ValfsTer17(185delAGor187delAG)
  • p.E23VFS*17
  • p.E23VfsX17
  • p.Glu23Valfs*17
  • p.Glu23ValfsX17
  • p.Glu23fs
Nucleotide change:
185delAG
Protein change:
E23fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 185&base_change=del AG; Genetic Testing Registry (GTR): GTR000522162; OMIM: 113705.0003; dbSNP: rs80357914
NCBI 1000 Genomes Browser:
rs80357914
Molecular consequence:
  • NM_007297.4:c.-22AG[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001407581.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407971.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407972.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407973.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407974.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407975.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407976.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407977.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407978.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407979.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407980.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407981.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407982.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407983.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407984.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407985.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407986.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407990.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407991.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407992.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407993.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408392.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408396.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408397.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408398.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408399.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408400.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408401.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408402.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408403.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408404.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408406.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408407.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408408.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408409.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408411.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408412.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408413.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408414.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408415.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408416.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408418.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408419.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408420.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408421.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408422.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408423.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408424.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408425.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408426.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408427.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408428.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408429.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408430.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408431.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408432.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408433.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408434.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408435.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408436.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408437.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408438.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408439.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408440.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408441.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408442.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408443.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408444.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408445.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408446.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408447.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408448.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408450.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408451.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408472.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408473.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408474.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408475.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408476.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408494.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408495.1:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.68_69del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.4:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007299.4:c.68_69del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.68_69del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007304.2:c.66_67AG[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027676.2:n.268AG[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
loss_of_function_variant [Sequence Ontology: SO:0002054]
Observations:
1

Condition(s)

Name:
Triple-negative breast cancer
Identifiers:
MedGen: C3539878

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003914825Cancer Genomics Lab, PINUM Cancer Hospital
no assertion criteria provided
Pathogenic
(Mar 11, 2023) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Punjabigermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Cancer Genomics Lab, PINUM Cancer Hospital, SCV003914825.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Punjabi1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 19, 2024