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NM_007294.4(BRCA1):c.2263del (p.Glu755fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Mar 21, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001386520.10

Allele description [Variation Report for NM_007294.4(BRCA1):c.2263del (p.Glu755fs)]

NM_007294.4(BRCA1):c.2263del (p.Glu755fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.2263del (p.Glu755fs)
Other names:
2382delG
HGVS:
  • NC_000017.11:g.43093268del
  • NG_005905.2:g.124716del
  • NM_001407571.1:c.2050del
  • NM_001407581.1:c.2263del
  • NM_001407582.1:c.2263del
  • NM_001407583.1:c.2263del
  • NM_001407585.1:c.2263del
  • NM_001407587.1:c.2260del
  • NM_001407590.1:c.2260del
  • NM_001407591.1:c.2260del
  • NM_001407593.1:c.2263del
  • NM_001407594.1:c.2263del
  • NM_001407596.1:c.2263del
  • NM_001407597.1:c.2263del
  • NM_001407598.1:c.2263del
  • NM_001407602.1:c.2263del
  • NM_001407603.1:c.2263del
  • NM_001407605.1:c.2263del
  • NM_001407610.1:c.2260del
  • NM_001407611.1:c.2260del
  • NM_001407612.1:c.2260del
  • NM_001407613.1:c.2260del
  • NM_001407614.1:c.2260del
  • NM_001407615.1:c.2260del
  • NM_001407616.1:c.2263del
  • NM_001407617.1:c.2263del
  • NM_001407618.1:c.2263del
  • NM_001407619.1:c.2263del
  • NM_001407620.1:c.2263del
  • NM_001407621.1:c.2263del
  • NM_001407622.1:c.2263del
  • NM_001407623.1:c.2263del
  • NM_001407624.1:c.2263del
  • NM_001407625.1:c.2263del
  • NM_001407626.1:c.2263del
  • NM_001407627.1:c.2260del
  • NM_001407628.1:c.2260del
  • NM_001407629.1:c.2260del
  • NM_001407630.1:c.2260del
  • NM_001407631.1:c.2260del
  • NM_001407632.1:c.2260del
  • NM_001407633.1:c.2260del
  • NM_001407634.1:c.2260del
  • NM_001407635.1:c.2260del
  • NM_001407636.1:c.2260del
  • NM_001407637.1:c.2260del
  • NM_001407638.1:c.2260del
  • NM_001407639.1:c.2263del
  • NM_001407640.1:c.2263del
  • NM_001407641.1:c.2263del
  • NM_001407642.1:c.2263del
  • NM_001407644.1:c.2260del
  • NM_001407645.1:c.2260del
  • NM_001407646.1:c.2254del
  • NM_001407647.1:c.2254del
  • NM_001407648.1:c.2140del
  • NM_001407649.1:c.2137del
  • NM_001407652.1:c.2263del
  • NM_001407653.1:c.2185del
  • NM_001407654.1:c.2185del
  • NM_001407655.1:c.2185del
  • NM_001407656.1:c.2185del
  • NM_001407657.1:c.2185del
  • NM_001407658.1:c.2185del
  • NM_001407659.1:c.2182del
  • NM_001407660.1:c.2182del
  • NM_001407661.1:c.2182del
  • NM_001407662.1:c.2182del
  • NM_001407663.1:c.2185del
  • NM_001407664.1:c.2140del
  • NM_001407665.1:c.2140del
  • NM_001407666.1:c.2140del
  • NM_001407667.1:c.2140del
  • NM_001407668.1:c.2140del
  • NM_001407669.1:c.2140del
  • NM_001407670.1:c.2137del
  • NM_001407671.1:c.2137del
  • NM_001407672.1:c.2137del
  • NM_001407673.1:c.2137del
  • NM_001407674.1:c.2140del
  • NM_001407675.1:c.2140del
  • NM_001407676.1:c.2140del
  • NM_001407677.1:c.2140del
  • NM_001407678.1:c.2140del
  • NM_001407679.1:c.2140del
  • NM_001407680.1:c.2140del
  • NM_001407681.1:c.2140del
  • NM_001407682.1:c.2140del
  • NM_001407683.1:c.2140del
  • NM_001407684.1:c.2263del
  • NM_001407685.1:c.2137del
  • NM_001407686.1:c.2137del
  • NM_001407687.1:c.2137del
  • NM_001407688.1:c.2137del
  • NM_001407689.1:c.2137del
  • NM_001407690.1:c.2137del
  • NM_001407691.1:c.2137del
  • NM_001407692.1:c.2122del
  • NM_001407694.1:c.2122del
  • NM_001407695.1:c.2122del
  • NM_001407696.1:c.2122del
  • NM_001407697.1:c.2122del
  • NM_001407698.1:c.2122del
  • NM_001407724.1:c.2122del
  • NM_001407725.1:c.2122del
  • NM_001407726.1:c.2122del
  • NM_001407727.1:c.2122del
  • NM_001407728.1:c.2122del
  • NM_001407729.1:c.2122del
  • NM_001407730.1:c.2122del
  • NM_001407731.1:c.2122del
  • NM_001407732.1:c.2122del
  • NM_001407733.1:c.2122del
  • NM_001407734.1:c.2122del
  • NM_001407735.1:c.2122del
  • NM_001407736.1:c.2122del
  • NM_001407737.1:c.2122del
  • NM_001407738.1:c.2122del
  • NM_001407739.1:c.2122del
  • NM_001407740.1:c.2119del
  • NM_001407741.1:c.2119del
  • NM_001407742.1:c.2119del
  • NM_001407743.1:c.2119del
  • NM_001407744.1:c.2119del
  • NM_001407745.1:c.2119del
  • NM_001407746.1:c.2119del
  • NM_001407747.1:c.2119del
  • NM_001407748.1:c.2119del
  • NM_001407749.1:c.2119del
  • NM_001407750.1:c.2122del
  • NM_001407751.1:c.2122del
  • NM_001407752.1:c.2122del
  • NM_001407838.1:c.2119del
  • NM_001407839.1:c.2119del
  • NM_001407841.1:c.2119del
  • NM_001407842.1:c.2119del
  • NM_001407843.1:c.2119del
  • NM_001407844.1:c.2119del
  • NM_001407845.1:c.2119del
  • NM_001407846.1:c.2119del
  • NM_001407847.1:c.2119del
  • NM_001407848.1:c.2119del
  • NM_001407849.1:c.2119del
  • NM_001407850.1:c.2122del
  • NM_001407851.1:c.2122del
  • NM_001407852.1:c.2122del
  • NM_001407853.1:c.2050del
  • NM_001407854.1:c.2263del
  • NM_001407858.1:c.2263del
  • NM_001407859.1:c.2263del
  • NM_001407860.1:c.2260del
  • NM_001407861.1:c.2260del
  • NM_001407862.1:c.2062del
  • NM_001407863.1:c.2140del
  • NM_001407874.1:c.2059del
  • NM_001407875.1:c.2059del
  • NM_001407879.1:c.2053del
  • NM_001407881.1:c.2053del
  • NM_001407882.1:c.2053del
  • NM_001407884.1:c.2053del
  • NM_001407885.1:c.2053del
  • NM_001407886.1:c.2053del
  • NM_001407887.1:c.2053del
  • NM_001407889.1:c.2053del
  • NM_001407894.1:c.2050del
  • NM_001407895.1:c.2050del
  • NM_001407896.1:c.2050del
  • NM_001407897.1:c.2050del
  • NM_001407898.1:c.2050del
  • NM_001407899.1:c.2050del
  • NM_001407900.1:c.2053del
  • NM_001407902.1:c.2053del
  • NM_001407904.1:c.2053del
  • NM_001407906.1:c.2053del
  • NM_001407907.1:c.2053del
  • NM_001407908.1:c.2053del
  • NM_001407909.1:c.2053del
  • NM_001407910.1:c.2053del
  • NM_001407915.1:c.2050del
  • NM_001407916.1:c.2050del
  • NM_001407917.1:c.2050del
  • NM_001407918.1:c.2050del
  • NM_001407919.1:c.2140del
  • NM_001407920.1:c.1999del
  • NM_001407921.1:c.1999del
  • NM_001407922.1:c.1999del
  • NM_001407923.1:c.1999del
  • NM_001407924.1:c.1999del
  • NM_001407925.1:c.1999del
  • NM_001407926.1:c.1999del
  • NM_001407927.1:c.1999del
  • NM_001407928.1:c.1999del
  • NM_001407929.1:c.1999del
  • NM_001407930.1:c.1996del
  • NM_001407931.1:c.1996del
  • NM_001407932.1:c.1996del
  • NM_001407933.1:c.1999del
  • NM_001407934.1:c.1996del
  • NM_001407935.1:c.1999del
  • NM_001407936.1:c.1996del
  • NM_001407937.1:c.2140del
  • NM_001407938.1:c.2140del
  • NM_001407939.1:c.2140del
  • NM_001407940.1:c.2137del
  • NM_001407941.1:c.2137del
  • NM_001407942.1:c.2122del
  • NM_001407943.1:c.2119del
  • NM_001407944.1:c.2122del
  • NM_001407945.1:c.2122del
  • NM_001407946.1:c.1930del
  • NM_001407947.1:c.1930del
  • NM_001407948.1:c.1930del
  • NM_001407949.1:c.1930del
  • NM_001407950.1:c.1930del
  • NM_001407951.1:c.1930del
  • NM_001407952.1:c.1930del
  • NM_001407953.1:c.1930del
  • NM_001407954.1:c.1927del
  • NM_001407955.1:c.1927del
  • NM_001407956.1:c.1927del
  • NM_001407957.1:c.1930del
  • NM_001407958.1:c.1927del
  • NM_001407959.1:c.1882del
  • NM_001407960.1:c.1882del
  • NM_001407962.1:c.1879del
  • NM_001407963.1:c.1882del
  • NM_001407964.1:c.2119del
  • NM_001407965.1:c.1759del
  • NM_001407966.1:c.1375del
  • NM_001407967.1:c.1375del
  • NM_001407968.1:c.788-1129del
  • NM_001407969.1:c.788-1129del
  • NM_001407970.1:c.787+1476del
  • NM_001407971.1:c.787+1476del
  • NM_001407972.1:c.784+1476del
  • NM_001407973.1:c.787+1476del
  • NM_001407974.1:c.787+1476del
  • NM_001407975.1:c.787+1476del
  • NM_001407976.1:c.787+1476del
  • NM_001407977.1:c.787+1476del
  • NM_001407978.1:c.787+1476del
  • NM_001407979.1:c.787+1476del
  • NM_001407980.1:c.787+1476del
  • NM_001407981.1:c.787+1476del
  • NM_001407982.1:c.787+1476del
  • NM_001407983.1:c.787+1476del
  • NM_001407984.1:c.784+1476del
  • NM_001407985.1:c.784+1476del
  • NM_001407986.1:c.784+1476del
  • NM_001407990.1:c.787+1476del
  • NM_001407991.1:c.784+1476del
  • NM_001407992.1:c.784+1476del
  • NM_001407993.1:c.787+1476del
  • NM_001408392.1:c.784+1476del
  • NM_001408396.1:c.784+1476del
  • NM_001408397.1:c.784+1476del
  • NM_001408398.1:c.784+1476del
  • NM_001408399.1:c.784+1476del
  • NM_001408400.1:c.784+1476del
  • NM_001408401.1:c.784+1476del
  • NM_001408402.1:c.784+1476del
  • NM_001408403.1:c.787+1476del
  • NM_001408404.1:c.787+1476del
  • NM_001408406.1:c.790+1473del
  • NM_001408407.1:c.784+1476del
  • NM_001408408.1:c.778+1476del
  • NM_001408409.1:c.709+1476del
  • NM_001408410.1:c.646+1476del
  • NM_001408411.1:c.709+1476del
  • NM_001408412.1:c.709+1476del
  • NM_001408413.1:c.706+1476del
  • NM_001408414.1:c.709+1476del
  • NM_001408415.1:c.709+1476del
  • NM_001408416.1:c.706+1476del
  • NM_001408418.1:c.671-2236del
  • NM_001408419.1:c.671-2236del
  • NM_001408420.1:c.671-2236del
  • NM_001408421.1:c.668-2236del
  • NM_001408422.1:c.671-2236del
  • NM_001408423.1:c.671-2236del
  • NM_001408424.1:c.668-2236del
  • NM_001408425.1:c.664+1476del
  • NM_001408426.1:c.664+1476del
  • NM_001408427.1:c.664+1476del
  • NM_001408428.1:c.664+1476del
  • NM_001408429.1:c.664+1476del
  • NM_001408430.1:c.664+1476del
  • NM_001408431.1:c.668-2236del
  • NM_001408432.1:c.661+1476del
  • NM_001408433.1:c.661+1476del
  • NM_001408434.1:c.661+1476del
  • NM_001408435.1:c.661+1476del
  • NM_001408436.1:c.664+1476del
  • NM_001408437.1:c.664+1476del
  • NM_001408438.1:c.664+1476del
  • NM_001408439.1:c.664+1476del
  • NM_001408440.1:c.664+1476del
  • NM_001408441.1:c.664+1476del
  • NM_001408442.1:c.664+1476del
  • NM_001408443.1:c.664+1476del
  • NM_001408444.1:c.664+1476del
  • NM_001408445.1:c.661+1476del
  • NM_001408446.1:c.661+1476del
  • NM_001408447.1:c.661+1476del
  • NM_001408448.1:c.661+1476del
  • NM_001408450.1:c.661+1476del
  • NM_001408451.1:c.652+1476del
  • NM_001408452.1:c.646+1476del
  • NM_001408453.1:c.646+1476del
  • NM_001408454.1:c.646+1476del
  • NM_001408455.1:c.646+1476del
  • NM_001408456.1:c.646+1476del
  • NM_001408457.1:c.646+1476del
  • NM_001408458.1:c.646+1476del
  • NM_001408459.1:c.646+1476del
  • NM_001408460.1:c.646+1476del
  • NM_001408461.1:c.646+1476del
  • NM_001408462.1:c.643+1476del
  • NM_001408463.1:c.643+1476del
  • NM_001408464.1:c.643+1476del
  • NM_001408465.1:c.643+1476del
  • NM_001408466.1:c.646+1476del
  • NM_001408467.1:c.646+1476del
  • NM_001408468.1:c.643+1476del
  • NM_001408469.1:c.646+1476del
  • NM_001408470.1:c.643+1476del
  • NM_001408472.1:c.787+1476del
  • NM_001408473.1:c.784+1476del
  • NM_001408474.1:c.586+1476del
  • NM_001408475.1:c.583+1476del
  • NM_001408476.1:c.586+1476del
  • NM_001408478.1:c.577+1476del
  • NM_001408479.1:c.577+1476del
  • NM_001408480.1:c.577+1476del
  • NM_001408481.1:c.577+1476del
  • NM_001408482.1:c.577+1476del
  • NM_001408483.1:c.577+1476del
  • NM_001408484.1:c.577+1476del
  • NM_001408485.1:c.577+1476del
  • NM_001408489.1:c.577+1476del
  • NM_001408490.1:c.574+1476del
  • NM_001408491.1:c.574+1476del
  • NM_001408492.1:c.577+1476del
  • NM_001408493.1:c.574+1476del
  • NM_001408494.1:c.548-2236del
  • NM_001408495.1:c.545-2236del
  • NM_001408496.1:c.523+1476del
  • NM_001408497.1:c.523+1476del
  • NM_001408498.1:c.523+1476del
  • NM_001408499.1:c.523+1476del
  • NM_001408500.1:c.523+1476del
  • NM_001408501.1:c.523+1476del
  • NM_001408502.1:c.454+1476del
  • NM_001408503.1:c.520+1476del
  • NM_001408504.1:c.520+1476del
  • NM_001408505.1:c.520+1476del
  • NM_001408506.1:c.461-2236del
  • NM_001408507.1:c.461-2236del
  • NM_001408508.1:c.451+1476del
  • NM_001408509.1:c.451+1476del
  • NM_001408510.1:c.406+1476del
  • NM_001408511.1:c.404-2236del
  • NM_001408512.1:c.283+1476del
  • NM_001408513.1:c.577+1476del
  • NM_001408514.1:c.577+1476del
  • NM_007294.4:c.2263delMANE SELECT
  • NM_007297.4:c.2122del
  • NM_007298.4:c.787+1476del
  • NM_007299.4:c.787+1476del
  • NM_007300.4:c.2263del
  • NP_001394500.1:p.Glu684fs
  • NP_001394510.1:p.Glu755fs
  • NP_001394511.1:p.Glu755fs
  • NP_001394512.1:p.Glu755fs
  • NP_001394514.1:p.Glu755fs
  • NP_001394516.1:p.Glu754fs
  • NP_001394519.1:p.Glu754fs
  • NP_001394520.1:p.Glu754fs
  • NP_001394522.1:p.Glu755fs
  • NP_001394523.1:p.Glu755fs
  • NP_001394525.1:p.Glu755fs
  • NP_001394526.1:p.Glu755fs
  • NP_001394527.1:p.Glu755fs
  • NP_001394531.1:p.Glu755fs
  • NP_001394532.1:p.Glu755fs
  • NP_001394534.1:p.Glu755fs
  • NP_001394539.1:p.Glu754fs
  • NP_001394540.1:p.Glu754fs
  • NP_001394541.1:p.Glu754fs
  • NP_001394542.1:p.Glu754fs
  • NP_001394543.1:p.Glu754fs
  • NP_001394544.1:p.Glu754fs
  • NP_001394545.1:p.Glu755fs
  • NP_001394546.1:p.Glu755fs
  • NP_001394547.1:p.Glu755fs
  • NP_001394548.1:p.Glu755fs
  • NP_001394549.1:p.Glu755fs
  • NP_001394550.1:p.Glu755fs
  • NP_001394551.1:p.Glu755fs
  • NP_001394552.1:p.Glu755fs
  • NP_001394553.1:p.Glu755fs
  • NP_001394554.1:p.Glu755fs
  • NP_001394555.1:p.Glu755fs
  • NP_001394556.1:p.Glu754fs
  • NP_001394557.1:p.Glu754fs
  • NP_001394558.1:p.Glu754fs
  • NP_001394559.1:p.Glu754fs
  • NP_001394560.1:p.Glu754fs
  • NP_001394561.1:p.Glu754fs
  • NP_001394562.1:p.Glu754fs
  • NP_001394563.1:p.Glu754fs
  • NP_001394564.1:p.Glu754fs
  • NP_001394565.1:p.Glu754fs
  • NP_001394566.1:p.Glu754fs
  • NP_001394567.1:p.Glu754fs
  • NP_001394568.1:p.Glu755fs
  • NP_001394569.1:p.Glu755fs
  • NP_001394570.1:p.Glu755fs
  • NP_001394571.1:p.Glu755fs
  • NP_001394573.1:p.Glu754fs
  • NP_001394574.1:p.Glu754fs
  • NP_001394575.1:p.Glu752fs
  • NP_001394576.1:p.Glu752fs
  • NP_001394577.1:p.Glu714fs
  • NP_001394578.1:p.Glu713fs
  • NP_001394581.1:p.Glu755fs
  • NP_001394582.1:p.Glu729fs
  • NP_001394583.1:p.Glu729fs
  • NP_001394584.1:p.Glu729fs
  • NP_001394585.1:p.Glu729fs
  • NP_001394586.1:p.Glu729fs
  • NP_001394587.1:p.Glu729fs
  • NP_001394588.1:p.Glu728fs
  • NP_001394589.1:p.Glu728fs
  • NP_001394590.1:p.Glu728fs
  • NP_001394591.1:p.Glu728fs
  • NP_001394592.1:p.Glu729fs
  • NP_001394593.1:p.Glu714fs
  • NP_001394594.1:p.Glu714fs
  • NP_001394595.1:p.Glu714fs
  • NP_001394596.1:p.Glu714fs
  • NP_001394597.1:p.Glu714fs
  • NP_001394598.1:p.Glu714fs
  • NP_001394599.1:p.Glu713fs
  • NP_001394600.1:p.Glu713fs
  • NP_001394601.1:p.Glu713fs
  • NP_001394602.1:p.Glu713fs
  • NP_001394603.1:p.Glu714fs
  • NP_001394604.1:p.Glu714fs
  • NP_001394605.1:p.Glu714fs
  • NP_001394606.1:p.Glu714fs
  • NP_001394607.1:p.Glu714fs
  • NP_001394608.1:p.Glu714fs
  • NP_001394609.1:p.Glu714fs
  • NP_001394610.1:p.Glu714fs
  • NP_001394611.1:p.Glu714fs
  • NP_001394612.1:p.Glu714fs
  • NP_001394613.1:p.Glu755fs
  • NP_001394614.1:p.Glu713fs
  • NP_001394615.1:p.Glu713fs
  • NP_001394616.1:p.Glu713fs
  • NP_001394617.1:p.Glu713fs
  • NP_001394618.1:p.Glu713fs
  • NP_001394619.1:p.Glu713fs
  • NP_001394620.1:p.Glu713fs
  • NP_001394621.1:p.Glu708fs
  • NP_001394623.1:p.Glu708fs
  • NP_001394624.1:p.Glu708fs
  • NP_001394625.1:p.Glu708fs
  • NP_001394626.1:p.Glu708fs
  • NP_001394627.1:p.Glu708fs
  • NP_001394653.1:p.Glu708fs
  • NP_001394654.1:p.Glu708fs
  • NP_001394655.1:p.Glu708fs
  • NP_001394656.1:p.Glu708fs
  • NP_001394657.1:p.Glu708fs
  • NP_001394658.1:p.Glu708fs
  • NP_001394659.1:p.Glu708fs
  • NP_001394660.1:p.Glu708fs
  • NP_001394661.1:p.Glu708fs
  • NP_001394662.1:p.Glu708fs
  • NP_001394663.1:p.Glu708fs
  • NP_001394664.1:p.Glu708fs
  • NP_001394665.1:p.Glu708fs
  • NP_001394666.1:p.Glu708fs
  • NP_001394667.1:p.Glu708fs
  • NP_001394668.1:p.Glu708fs
  • NP_001394669.1:p.Glu707fs
  • NP_001394670.1:p.Glu707fs
  • NP_001394671.1:p.Glu707fs
  • NP_001394672.1:p.Glu707fs
  • NP_001394673.1:p.Glu707fs
  • NP_001394674.1:p.Glu707fs
  • NP_001394675.1:p.Glu707fs
  • NP_001394676.1:p.Glu707fs
  • NP_001394677.1:p.Glu707fs
  • NP_001394678.1:p.Glu707fs
  • NP_001394679.1:p.Glu708fs
  • NP_001394680.1:p.Glu708fs
  • NP_001394681.1:p.Glu708fs
  • NP_001394767.1:p.Glu707fs
  • NP_001394768.1:p.Glu707fs
  • NP_001394770.1:p.Glu707fs
  • NP_001394771.1:p.Glu707fs
  • NP_001394772.1:p.Glu707fs
  • NP_001394773.1:p.Glu707fs
  • NP_001394774.1:p.Glu707fs
  • NP_001394775.1:p.Glu707fs
  • NP_001394776.1:p.Glu707fs
  • NP_001394777.1:p.Glu707fs
  • NP_001394778.1:p.Glu707fs
  • NP_001394779.1:p.Glu708fs
  • NP_001394780.1:p.Glu708fs
  • NP_001394781.1:p.Glu708fs
  • NP_001394782.1:p.Glu684fs
  • NP_001394783.1:p.Glu755fs
  • NP_001394787.1:p.Glu755fs
  • NP_001394788.1:p.Glu755fs
  • NP_001394789.1:p.Glu754fs
  • NP_001394790.1:p.Glu754fs
  • NP_001394791.1:p.Glu688fs
  • NP_001394792.1:p.Glu714fs
  • NP_001394803.1:p.Glu687fs
  • NP_001394804.1:p.Glu687fs
  • NP_001394808.1:p.Glu685fs
  • NP_001394810.1:p.Glu685fs
  • NP_001394811.1:p.Glu685fs
  • NP_001394813.1:p.Glu685fs
  • NP_001394814.1:p.Glu685fs
  • NP_001394815.1:p.Glu685fs
  • NP_001394816.1:p.Glu685fs
  • NP_001394818.1:p.Glu685fs
  • NP_001394823.1:p.Glu684fs
  • NP_001394824.1:p.Glu684fs
  • NP_001394825.1:p.Glu684fs
  • NP_001394826.1:p.Glu684fs
  • NP_001394827.1:p.Glu684fs
  • NP_001394828.1:p.Glu684fs
  • NP_001394829.1:p.Glu685fs
  • NP_001394831.1:p.Glu685fs
  • NP_001394833.1:p.Glu685fs
  • NP_001394835.1:p.Glu685fs
  • NP_001394836.1:p.Glu685fs
  • NP_001394837.1:p.Glu685fs
  • NP_001394838.1:p.Glu685fs
  • NP_001394839.1:p.Glu685fs
  • NP_001394844.1:p.Glu684fs
  • NP_001394845.1:p.Glu684fs
  • NP_001394846.1:p.Glu684fs
  • NP_001394847.1:p.Glu684fs
  • NP_001394848.1:p.Glu714fs
  • NP_001394849.1:p.Glu667fs
  • NP_001394850.1:p.Glu667fs
  • NP_001394851.1:p.Glu667fs
  • NP_001394852.1:p.Glu667fs
  • NP_001394853.1:p.Glu667fs
  • NP_001394854.1:p.Glu667fs
  • NP_001394855.1:p.Glu667fs
  • NP_001394856.1:p.Glu667fs
  • NP_001394857.1:p.Glu667fs
  • NP_001394858.1:p.Glu667fs
  • NP_001394859.1:p.Glu666fs
  • NP_001394860.1:p.Glu666fs
  • NP_001394861.1:p.Glu666fs
  • NP_001394862.1:p.Glu667fs
  • NP_001394863.1:p.Glu666fs
  • NP_001394864.1:p.Glu667fs
  • NP_001394865.1:p.Glu666fs
  • NP_001394866.1:p.Glu714fs
  • NP_001394867.1:p.Glu714fs
  • NP_001394868.1:p.Glu714fs
  • NP_001394869.1:p.Glu713fs
  • NP_001394870.1:p.Glu713fs
  • NP_001394871.1:p.Glu708fs
  • NP_001394872.1:p.Glu707fs
  • NP_001394873.1:p.Glu708fs
  • NP_001394874.1:p.Glu708fs
  • NP_001394875.1:p.Glu644fs
  • NP_001394876.1:p.Glu644fs
  • NP_001394877.1:p.Glu644fs
  • NP_001394878.1:p.Glu644fs
  • NP_001394879.1:p.Glu644fs
  • NP_001394880.1:p.Glu644fs
  • NP_001394881.1:p.Glu644fs
  • NP_001394882.1:p.Glu644fs
  • NP_001394883.1:p.Glu643fs
  • NP_001394884.1:p.Glu643fs
  • NP_001394885.1:p.Glu643fs
  • NP_001394886.1:p.Glu644fs
  • NP_001394887.1:p.Glu643fs
  • NP_001394888.1:p.Glu628fs
  • NP_001394889.1:p.Glu628fs
  • NP_001394891.1:p.Glu627fs
  • NP_001394892.1:p.Glu628fs
  • NP_001394893.1:p.Glu707fs
  • NP_001394894.1:p.Glu587fs
  • NP_001394895.1:p.Glu459fs
  • NP_001394896.1:p.Glu459fs
  • NP_009225.1:p.Glu755Lysfs
  • NP_009225.1:p.Glu755fs
  • NP_009228.2:p.Glu708fs
  • NP_009231.2:p.Glu755fs
  • LRG_292t1:c.2263del
  • LRG_292:g.124716del
  • LRG_292p1:p.Glu755Lysfs
  • NC_000017.10:g.41245285del
  • NC_000017.11:g.43093268delC
  • NM_007294.3:c.2263delG
  • NM_007294.3:c.2263delG
  • NR_027676.1:n.2399delG
  • U14680.1:n.2382delG
Protein change:
E459fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 2382&base_change=del G; dbSNP: rs80357960
NCBI 1000 Genomes Browser:
rs80357960
Molecular consequence:
  • NM_001407571.1:c.2050del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.2260del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.2260del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.2260del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.2260del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.2260del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.2260del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.2260del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.2260del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.2260del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.2260del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.2260del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.2260del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.2260del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.2260del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.2260del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.2260del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.2260del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.2260del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.2260del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.2260del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.2260del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.2260del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.2260del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.2254del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.2254del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.2140del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.2137del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.2185del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.2185del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.2185del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.2185del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.2185del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.2185del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.2182del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.2182del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.2182del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.2182del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.2185del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.2140del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.2140del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.2140del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.2140del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.2140del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.2140del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.2137del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.2137del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.2137del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.2137del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.2140del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.2140del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.2140del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.2140del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.2140del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.2140del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.2140del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.2140del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.2140del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.2140del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.2137del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.2137del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.2137del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.2137del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.2137del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.2137del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.2137del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.2119del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.2119del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.2119del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.2119del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.2119del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.2119del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.2119del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.2119del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.2119del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.2119del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.2119del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.2119del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.2119del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.2119del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.2119del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.2119del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.2119del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.2119del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.2119del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.2119del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.2119del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.2050del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.2260del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.2260del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.2062del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.2140del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.2059del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.2059del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.2053del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.2053del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.2053del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.2053del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.2053del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.2053del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.2053del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.2053del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.2050del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.2050del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.2050del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.2050del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.2050del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.2050del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.2053del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.2053del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.2053del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.2053del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.2053del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.2053del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.2053del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.2053del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.2050del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.2050del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.2050del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.2050del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.2140del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.1999del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.1999del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.1999del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.1999del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.1999del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.1999del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.1999del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.1999del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.1999del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.1999del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.1996del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.1996del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.1996del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.1999del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.1996del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.1999del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.1996del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.2140del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.2140del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.2140del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.2137del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.2137del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.2119del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.1930del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.1930del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.1930del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.1930del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.1930del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.1930del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.1930del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.1930del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.1927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.1927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.1927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.1930del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.1927del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.1882del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.1882del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.1879del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.1882del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.2119del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.1759del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.1375del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.1375del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.2122del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.2263del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.788-1129del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-1129del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1473del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-2236del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-2236del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-2236del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-2236del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-2236del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-2236del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-2236del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-2236del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2236del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2236del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-2236del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-2236del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2236del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1476del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1476del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hereditary breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001586779Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Mar 21, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV004847897Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely Pathogenic
(Oct 14, 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

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

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, et al.

Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.

PubMed [citation]
PMID:
29446198
PMCID:
PMC5903938
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001586779.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Glu755Lysfs*10) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 54517). This premature translational stop signal has been observed in individual(s) with high risk for breast and/or ovarian cancer (PMID: 29446198). This variant is not present in population databases (gnomAD no frequency).

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

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV004847897.1

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

Description

The p.Glu755LysfsX10 variant in BRCA1 has not been previously reported in individuals with hereditary breast and/or ovarian cancer (HBOC) and was absent from large population studies, but has been reported in ClinVar (Variation ID: 54517). This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 755 and leads to a premature termination codon 10 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function of the BRCA1 gene is an established disease mechanism in autosomal dominant HBOC. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal dominant HBOC. ACMG/AMP Criteria applied: PVS1, PM2.

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

Last Updated: Oct 8, 2024