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NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) AND Breast and/or ovarian cancer

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
Mar 4, 2022
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:
RCV000735481.13

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:
6

Condition(s)

Name:
Breast and/or ovarian cancer
Identifiers:
MedGen: CN221562

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000863618Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research - The Canadian Open Genetics Repository (COGR)
no assertion criteria provided
Pathogenic
(Jun 22, 2016) 		germlineclinical testing

SCV000901065CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 4, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001451786CZECANCA consortium
no assertion criteria provided
Pathogenic
(Jun 11, 2019) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
Slavicgermlineyes6not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer.

Lhotova K, Stolarova L, Zemankova P, Vocka M, Janatova M, Borecka M, Cerna M, Jelinkova S, Kral J, Volkova Z, Urbanova M, Kleiblova P, Machackova E, Foretova L, Hazova J, Vasickova P, Lhota F, Koudova M, Cerna L, Tavandzis S, Indrakova J, Hruskova L, et al.

Cancers (Basel). 2020 Apr 13;12(4). doi:pii: E956. 10.3390/cancers12040956.

PubMed [citation]
PMID:
32295079
PMCID:
PMC7226062

Details of each submission

From Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research - The Canadian Open Genetics Repository (COGR), SCV000863618.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario - Canadian Open Genetics Repository, SCV000901065.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From CZECANCA consortium, SCV001451786.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Slavic6not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided6not providednot providednot provided

Last Updated: May 19, 2024