U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.2269del (p.Val757fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Aug 4, 2022
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:
RCV000215693.16

Allele description [Variation Report for NM_007294.4(BRCA1):c.2269del (p.Val757fs)]

NM_007294.4(BRCA1):c.2269del (p.Val757fs)

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.2269del (p.Val757fs)
HGVS:
  • NC_000017.10:g.41245279del
  • NC_000017.11:g.43093264del
  • NG_005905.2:g.124722del
  • NM_001407571.1:c.2056del
  • NM_001407581.1:c.2269del
  • NM_001407582.1:c.2269del
  • NM_001407583.1:c.2269del
  • NM_001407585.1:c.2269del
  • NM_001407587.1:c.2266del
  • NM_001407590.1:c.2266del
  • NM_001407591.1:c.2266del
  • NM_001407593.1:c.2269del
  • NM_001407594.1:c.2269del
  • NM_001407596.1:c.2269del
  • NM_001407597.1:c.2269del
  • NM_001407598.1:c.2269del
  • NM_001407602.1:c.2269del
  • NM_001407603.1:c.2269del
  • NM_001407605.1:c.2269del
  • NM_001407610.1:c.2266del
  • NM_001407611.1:c.2266del
  • NM_001407612.1:c.2266del
  • NM_001407613.1:c.2266del
  • NM_001407614.1:c.2266del
  • NM_001407615.1:c.2266del
  • NM_001407616.1:c.2269del
  • NM_001407617.1:c.2269del
  • NM_001407618.1:c.2269del
  • NM_001407619.1:c.2269del
  • NM_001407620.1:c.2269del
  • NM_001407621.1:c.2269del
  • NM_001407622.1:c.2269del
  • NM_001407623.1:c.2269del
  • NM_001407624.1:c.2269del
  • NM_001407625.1:c.2269del
  • NM_001407626.1:c.2269del
  • NM_001407627.1:c.2266del
  • NM_001407628.1:c.2266del
  • NM_001407629.1:c.2266del
  • NM_001407630.1:c.2266del
  • NM_001407631.1:c.2266del
  • NM_001407632.1:c.2266del
  • NM_001407633.1:c.2266del
  • NM_001407634.1:c.2266del
  • NM_001407635.1:c.2266del
  • NM_001407636.1:c.2266del
  • NM_001407637.1:c.2266del
  • NM_001407638.1:c.2266del
  • NM_001407639.1:c.2269del
  • NM_001407640.1:c.2269del
  • NM_001407641.1:c.2269del
  • NM_001407642.1:c.2269del
  • NM_001407644.1:c.2266del
  • NM_001407645.1:c.2266del
  • NM_001407646.1:c.2260del
  • NM_001407647.1:c.2260del
  • NM_001407648.1:c.2146del
  • NM_001407649.1:c.2143del
  • NM_001407652.1:c.2269del
  • NM_001407653.1:c.2191del
  • NM_001407654.1:c.2191del
  • NM_001407655.1:c.2191del
  • NM_001407656.1:c.2191del
  • NM_001407657.1:c.2191del
  • NM_001407658.1:c.2191del
  • NM_001407659.1:c.2188del
  • NM_001407660.1:c.2188del
  • NM_001407661.1:c.2188del
  • NM_001407662.1:c.2188del
  • NM_001407663.1:c.2191del
  • NM_001407664.1:c.2146del
  • NM_001407665.1:c.2146del
  • NM_001407666.1:c.2146del
  • NM_001407667.1:c.2146del
  • NM_001407668.1:c.2146del
  • NM_001407669.1:c.2146del
  • NM_001407670.1:c.2143del
  • NM_001407671.1:c.2143del
  • NM_001407672.1:c.2143del
  • NM_001407673.1:c.2143del
  • NM_001407674.1:c.2146del
  • NM_001407675.1:c.2146del
  • NM_001407676.1:c.2146del
  • NM_001407677.1:c.2146del
  • NM_001407678.1:c.2146del
  • NM_001407679.1:c.2146del
  • NM_001407680.1:c.2146del
  • NM_001407681.1:c.2146del
  • NM_001407682.1:c.2146del
  • NM_001407683.1:c.2146del
  • NM_001407684.1:c.2269del
  • NM_001407685.1:c.2143del
  • NM_001407686.1:c.2143del
  • NM_001407687.1:c.2143del
  • NM_001407688.1:c.2143del
  • NM_001407689.1:c.2143del
  • NM_001407690.1:c.2143del
  • NM_001407691.1:c.2143del
  • NM_001407692.1:c.2128del
  • NM_001407694.1:c.2128del
  • NM_001407695.1:c.2128del
  • NM_001407696.1:c.2128del
  • NM_001407697.1:c.2128del
  • NM_001407698.1:c.2128del
  • NM_001407724.1:c.2128del
  • NM_001407725.1:c.2128del
  • NM_001407726.1:c.2128del
  • NM_001407727.1:c.2128del
  • NM_001407728.1:c.2128del
  • NM_001407729.1:c.2128del
  • NM_001407730.1:c.2128del
  • NM_001407731.1:c.2128del
  • NM_001407732.1:c.2128del
  • NM_001407733.1:c.2128del
  • NM_001407734.1:c.2128del
  • NM_001407735.1:c.2128del
  • NM_001407736.1:c.2128del
  • NM_001407737.1:c.2128del
  • NM_001407738.1:c.2128del
  • NM_001407739.1:c.2128del
  • NM_001407740.1:c.2125del
  • NM_001407741.1:c.2125del
  • NM_001407742.1:c.2125del
  • NM_001407743.1:c.2125del
  • NM_001407744.1:c.2125del
  • NM_001407745.1:c.2125del
  • NM_001407746.1:c.2125del
  • NM_001407747.1:c.2125del
  • NM_001407748.1:c.2125del
  • NM_001407749.1:c.2125del
  • NM_001407750.1:c.2128del
  • NM_001407751.1:c.2128del
  • NM_001407752.1:c.2128del
  • NM_001407838.1:c.2125del
  • NM_001407839.1:c.2125del
  • NM_001407841.1:c.2125del
  • NM_001407842.1:c.2125del
  • NM_001407843.1:c.2125del
  • NM_001407844.1:c.2125del
  • NM_001407845.1:c.2125del
  • NM_001407846.1:c.2125del
  • NM_001407847.1:c.2125del
  • NM_001407848.1:c.2125del
  • NM_001407849.1:c.2125del
  • NM_001407850.1:c.2128del
  • NM_001407851.1:c.2128del
  • NM_001407852.1:c.2128del
  • NM_001407853.1:c.2056del
  • NM_001407854.1:c.2269del
  • NM_001407858.1:c.2269del
  • NM_001407859.1:c.2269del
  • NM_001407860.1:c.2266del
  • NM_001407861.1:c.2266del
  • NM_001407862.1:c.2068del
  • NM_001407863.1:c.2146del
  • NM_001407874.1:c.2065del
  • NM_001407875.1:c.2065del
  • NM_001407879.1:c.2059del
  • NM_001407881.1:c.2059del
  • NM_001407882.1:c.2059del
  • NM_001407884.1:c.2059del
  • NM_001407885.1:c.2059del
  • NM_001407886.1:c.2059del
  • NM_001407887.1:c.2059del
  • NM_001407889.1:c.2059del
  • NM_001407894.1:c.2056del
  • NM_001407895.1:c.2056del
  • NM_001407896.1:c.2056del
  • NM_001407897.1:c.2056del
  • NM_001407898.1:c.2056del
  • NM_001407899.1:c.2056del
  • NM_001407900.1:c.2059del
  • NM_001407902.1:c.2059del
  • NM_001407904.1:c.2059del
  • NM_001407906.1:c.2059del
  • NM_001407907.1:c.2059del
  • NM_001407908.1:c.2059del
  • NM_001407909.1:c.2059del
  • NM_001407910.1:c.2059del
  • NM_001407915.1:c.2056del
  • NM_001407916.1:c.2056del
  • NM_001407917.1:c.2056del
  • NM_001407918.1:c.2056del
  • NM_001407919.1:c.2146del
  • NM_001407920.1:c.2005del
  • NM_001407921.1:c.2005del
  • NM_001407922.1:c.2005del
  • NM_001407923.1:c.2005del
  • NM_001407924.1:c.2005del
  • NM_001407925.1:c.2005del
  • NM_001407926.1:c.2005del
  • NM_001407927.1:c.2005del
  • NM_001407928.1:c.2005del
  • NM_001407929.1:c.2005del
  • NM_001407930.1:c.2002del
  • NM_001407931.1:c.2002del
  • NM_001407932.1:c.2002del
  • NM_001407933.1:c.2005del
  • NM_001407934.1:c.2002del
  • NM_001407935.1:c.2005del
  • NM_001407936.1:c.2002del
  • NM_001407937.1:c.2146del
  • NM_001407938.1:c.2146del
  • NM_001407939.1:c.2146del
  • NM_001407940.1:c.2143del
  • NM_001407941.1:c.2143del
  • NM_001407942.1:c.2128del
  • NM_001407943.1:c.2125del
  • NM_001407944.1:c.2128del
  • NM_001407945.1:c.2128del
  • NM_001407946.1:c.1936del
  • NM_001407947.1:c.1936del
  • NM_001407948.1:c.1936del
  • NM_001407949.1:c.1936del
  • NM_001407950.1:c.1936del
  • NM_001407951.1:c.1936del
  • NM_001407952.1:c.1936del
  • NM_001407953.1:c.1936del
  • NM_001407954.1:c.1933del
  • NM_001407955.1:c.1933del
  • NM_001407956.1:c.1933del
  • NM_001407957.1:c.1936del
  • NM_001407958.1:c.1933del
  • NM_001407959.1:c.1888del
  • NM_001407960.1:c.1888del
  • NM_001407962.1:c.1885del
  • NM_001407963.1:c.1888del
  • NM_001407964.1:c.2125del
  • NM_001407965.1:c.1765del
  • NM_001407966.1:c.1381del
  • NM_001407967.1:c.1381del
  • NM_001407968.1:c.788-1123del
  • NM_001407969.1:c.788-1123del
  • NM_001407970.1:c.787+1482del
  • NM_001407971.1:c.787+1482del
  • NM_001407972.1:c.784+1482del
  • NM_001407973.1:c.787+1482del
  • NM_001407974.1:c.787+1482del
  • NM_001407975.1:c.787+1482del
  • NM_001407976.1:c.787+1482del
  • NM_001407977.1:c.787+1482del
  • NM_001407978.1:c.787+1482del
  • NM_001407979.1:c.787+1482del
  • NM_001407980.1:c.787+1482del
  • NM_001407981.1:c.787+1482del
  • NM_001407982.1:c.787+1482del
  • NM_001407983.1:c.787+1482del
  • NM_001407984.1:c.784+1482del
  • NM_001407985.1:c.784+1482del
  • NM_001407986.1:c.784+1482del
  • NM_001407990.1:c.787+1482del
  • NM_001407991.1:c.784+1482del
  • NM_001407992.1:c.784+1482del
  • NM_001407993.1:c.787+1482del
  • NM_001408392.1:c.784+1482del
  • NM_001408396.1:c.784+1482del
  • NM_001408397.1:c.784+1482del
  • NM_001408398.1:c.784+1482del
  • NM_001408399.1:c.784+1482del
  • NM_001408400.1:c.784+1482del
  • NM_001408401.1:c.784+1482del
  • NM_001408402.1:c.784+1482del
  • NM_001408403.1:c.787+1482del
  • NM_001408404.1:c.787+1482del
  • NM_001408406.1:c.790+1479del
  • NM_001408407.1:c.784+1482del
  • NM_001408408.1:c.778+1482del
  • NM_001408409.1:c.709+1482del
  • NM_001408410.1:c.646+1482del
  • NM_001408411.1:c.709+1482del
  • NM_001408412.1:c.709+1482del
  • NM_001408413.1:c.706+1482del
  • NM_001408414.1:c.709+1482del
  • NM_001408415.1:c.709+1482del
  • NM_001408416.1:c.706+1482del
  • NM_001408418.1:c.671-2230del
  • NM_001408419.1:c.671-2230del
  • NM_001408420.1:c.671-2230del
  • NM_001408421.1:c.668-2230del
  • NM_001408422.1:c.671-2230del
  • NM_001408423.1:c.671-2230del
  • NM_001408424.1:c.668-2230del
  • NM_001408425.1:c.664+1482del
  • NM_001408426.1:c.664+1482del
  • NM_001408427.1:c.664+1482del
  • NM_001408428.1:c.664+1482del
  • NM_001408429.1:c.664+1482del
  • NM_001408430.1:c.664+1482del
  • NM_001408431.1:c.668-2230del
  • NM_001408432.1:c.661+1482del
  • NM_001408433.1:c.661+1482del
  • NM_001408434.1:c.661+1482del
  • NM_001408435.1:c.661+1482del
  • NM_001408436.1:c.664+1482del
  • NM_001408437.1:c.664+1482del
  • NM_001408438.1:c.664+1482del
  • NM_001408439.1:c.664+1482del
  • NM_001408440.1:c.664+1482del
  • NM_001408441.1:c.664+1482del
  • NM_001408442.1:c.664+1482del
  • NM_001408443.1:c.664+1482del
  • NM_001408444.1:c.664+1482del
  • NM_001408445.1:c.661+1482del
  • NM_001408446.1:c.661+1482del
  • NM_001408447.1:c.661+1482del
  • NM_001408448.1:c.661+1482del
  • NM_001408450.1:c.661+1482del
  • NM_001408451.1:c.652+1482del
  • NM_001408452.1:c.646+1482del
  • NM_001408453.1:c.646+1482del
  • NM_001408454.1:c.646+1482del
  • NM_001408455.1:c.646+1482del
  • NM_001408456.1:c.646+1482del
  • NM_001408457.1:c.646+1482del
  • NM_001408458.1:c.646+1482del
  • NM_001408459.1:c.646+1482del
  • NM_001408460.1:c.646+1482del
  • NM_001408461.1:c.646+1482del
  • NM_001408462.1:c.643+1482del
  • NM_001408463.1:c.643+1482del
  • NM_001408464.1:c.643+1482del
  • NM_001408465.1:c.643+1482del
  • NM_001408466.1:c.646+1482del
  • NM_001408467.1:c.646+1482del
  • NM_001408468.1:c.643+1482del
  • NM_001408469.1:c.646+1482del
  • NM_001408470.1:c.643+1482del
  • NM_001408472.1:c.787+1482del
  • NM_001408473.1:c.784+1482del
  • NM_001408474.1:c.586+1482del
  • NM_001408475.1:c.583+1482del
  • NM_001408476.1:c.586+1482del
  • NM_001408478.1:c.577+1482del
  • NM_001408479.1:c.577+1482del
  • NM_001408480.1:c.577+1482del
  • NM_001408481.1:c.577+1482del
  • NM_001408482.1:c.577+1482del
  • NM_001408483.1:c.577+1482del
  • NM_001408484.1:c.577+1482del
  • NM_001408485.1:c.577+1482del
  • NM_001408489.1:c.577+1482del
  • NM_001408490.1:c.574+1482del
  • NM_001408491.1:c.574+1482del
  • NM_001408492.1:c.577+1482del
  • NM_001408493.1:c.574+1482del
  • NM_001408494.1:c.548-2230del
  • NM_001408495.1:c.545-2230del
  • NM_001408496.1:c.523+1482del
  • NM_001408497.1:c.523+1482del
  • NM_001408498.1:c.523+1482del
  • NM_001408499.1:c.523+1482del
  • NM_001408500.1:c.523+1482del
  • NM_001408501.1:c.523+1482del
  • NM_001408502.1:c.454+1482del
  • NM_001408503.1:c.520+1482del
  • NM_001408504.1:c.520+1482del
  • NM_001408505.1:c.520+1482del
  • NM_001408506.1:c.461-2230del
  • NM_001408507.1:c.461-2230del
  • NM_001408508.1:c.451+1482del
  • NM_001408509.1:c.451+1482del
  • NM_001408510.1:c.406+1482del
  • NM_001408511.1:c.404-2230del
  • NM_001408512.1:c.283+1482del
  • NM_001408513.1:c.577+1482del
  • NM_001408514.1:c.577+1482del
  • NM_007294.4:c.2269delMANE SELECT
  • NM_007297.4:c.2128del
  • NM_007298.4:c.787+1482del
  • NM_007299.4:c.787+1482del
  • NM_007300.4:c.2269del
  • NP_001394500.1:p.Val686fs
  • NP_001394510.1:p.Val757fs
  • NP_001394511.1:p.Val757fs
  • NP_001394512.1:p.Val757fs
  • NP_001394514.1:p.Val757fs
  • NP_001394516.1:p.Val756fs
  • NP_001394519.1:p.Val756fs
  • NP_001394520.1:p.Val756fs
  • NP_001394522.1:p.Val757fs
  • NP_001394523.1:p.Val757fs
  • NP_001394525.1:p.Val757fs
  • NP_001394526.1:p.Val757fs
  • NP_001394527.1:p.Val757fs
  • NP_001394531.1:p.Val757fs
  • NP_001394532.1:p.Val757fs
  • NP_001394534.1:p.Val757fs
  • NP_001394539.1:p.Val756fs
  • NP_001394540.1:p.Val756fs
  • NP_001394541.1:p.Val756fs
  • NP_001394542.1:p.Val756fs
  • NP_001394543.1:p.Val756fs
  • NP_001394544.1:p.Val756fs
  • NP_001394545.1:p.Val757fs
  • NP_001394546.1:p.Val757fs
  • NP_001394547.1:p.Val757fs
  • NP_001394548.1:p.Val757fs
  • NP_001394549.1:p.Val757fs
  • NP_001394550.1:p.Val757fs
  • NP_001394551.1:p.Val757fs
  • NP_001394552.1:p.Val757fs
  • NP_001394553.1:p.Val757fs
  • NP_001394554.1:p.Val757fs
  • NP_001394555.1:p.Val757fs
  • NP_001394556.1:p.Val756fs
  • NP_001394557.1:p.Val756fs
  • NP_001394558.1:p.Val756fs
  • NP_001394559.1:p.Val756fs
  • NP_001394560.1:p.Val756fs
  • NP_001394561.1:p.Val756fs
  • NP_001394562.1:p.Val756fs
  • NP_001394563.1:p.Val756fs
  • NP_001394564.1:p.Val756fs
  • NP_001394565.1:p.Val756fs
  • NP_001394566.1:p.Val756fs
  • NP_001394567.1:p.Val756fs
  • NP_001394568.1:p.Val757fs
  • NP_001394569.1:p.Val757fs
  • NP_001394570.1:p.Val757fs
  • NP_001394571.1:p.Val757fs
  • NP_001394573.1:p.Val756fs
  • NP_001394574.1:p.Val756fs
  • NP_001394575.1:p.Val754fs
  • NP_001394576.1:p.Val754fs
  • NP_001394577.1:p.Val716fs
  • NP_001394578.1:p.Val715fs
  • NP_001394581.1:p.Val757fs
  • NP_001394582.1:p.Val731fs
  • NP_001394583.1:p.Val731fs
  • NP_001394584.1:p.Val731fs
  • NP_001394585.1:p.Val731fs
  • NP_001394586.1:p.Val731fs
  • NP_001394587.1:p.Val731fs
  • NP_001394588.1:p.Val730fs
  • NP_001394589.1:p.Val730fs
  • NP_001394590.1:p.Val730fs
  • NP_001394591.1:p.Val730fs
  • NP_001394592.1:p.Val731fs
  • NP_001394593.1:p.Val716fs
  • NP_001394594.1:p.Val716fs
  • NP_001394595.1:p.Val716fs
  • NP_001394596.1:p.Val716fs
  • NP_001394597.1:p.Val716fs
  • NP_001394598.1:p.Val716fs
  • NP_001394599.1:p.Val715fs
  • NP_001394600.1:p.Val715fs
  • NP_001394601.1:p.Val715fs
  • NP_001394602.1:p.Val715fs
  • NP_001394603.1:p.Val716fs
  • NP_001394604.1:p.Val716fs
  • NP_001394605.1:p.Val716fs
  • NP_001394606.1:p.Val716fs
  • NP_001394607.1:p.Val716fs
  • NP_001394608.1:p.Val716fs
  • NP_001394609.1:p.Val716fs
  • NP_001394610.1:p.Val716fs
  • NP_001394611.1:p.Val716fs
  • NP_001394612.1:p.Val716fs
  • NP_001394613.1:p.Val757fs
  • NP_001394614.1:p.Val715fs
  • NP_001394615.1:p.Val715fs
  • NP_001394616.1:p.Val715fs
  • NP_001394617.1:p.Val715fs
  • NP_001394618.1:p.Val715fs
  • NP_001394619.1:p.Val715fs
  • NP_001394620.1:p.Val715fs
  • NP_001394621.1:p.Val710fs
  • NP_001394623.1:p.Val710fs
  • NP_001394624.1:p.Val710fs
  • NP_001394625.1:p.Val710fs
  • NP_001394626.1:p.Val710fs
  • NP_001394627.1:p.Val710fs
  • NP_001394653.1:p.Val710fs
  • NP_001394654.1:p.Val710fs
  • NP_001394655.1:p.Val710fs
  • NP_001394656.1:p.Val710fs
  • NP_001394657.1:p.Val710fs
  • NP_001394658.1:p.Val710fs
  • NP_001394659.1:p.Val710fs
  • NP_001394660.1:p.Val710fs
  • NP_001394661.1:p.Val710fs
  • NP_001394662.1:p.Val710fs
  • NP_001394663.1:p.Val710fs
  • NP_001394664.1:p.Val710fs
  • NP_001394665.1:p.Val710fs
  • NP_001394666.1:p.Val710fs
  • NP_001394667.1:p.Val710fs
  • NP_001394668.1:p.Val710fs
  • NP_001394669.1:p.Val709fs
  • NP_001394670.1:p.Val709fs
  • NP_001394671.1:p.Val709fs
  • NP_001394672.1:p.Val709fs
  • NP_001394673.1:p.Val709fs
  • NP_001394674.1:p.Val709fs
  • NP_001394675.1:p.Val709fs
  • NP_001394676.1:p.Val709fs
  • NP_001394677.1:p.Val709fs
  • NP_001394678.1:p.Val709fs
  • NP_001394679.1:p.Val710fs
  • NP_001394680.1:p.Val710fs
  • NP_001394681.1:p.Val710fs
  • NP_001394767.1:p.Val709fs
  • NP_001394768.1:p.Val709fs
  • NP_001394770.1:p.Val709fs
  • NP_001394771.1:p.Val709fs
  • NP_001394772.1:p.Val709fs
  • NP_001394773.1:p.Val709fs
  • NP_001394774.1:p.Val709fs
  • NP_001394775.1:p.Val709fs
  • NP_001394776.1:p.Val709fs
  • NP_001394777.1:p.Val709fs
  • NP_001394778.1:p.Val709fs
  • NP_001394779.1:p.Val710fs
  • NP_001394780.1:p.Val710fs
  • NP_001394781.1:p.Val710fs
  • NP_001394782.1:p.Val686fs
  • NP_001394783.1:p.Val757fs
  • NP_001394787.1:p.Val757fs
  • NP_001394788.1:p.Val757fs
  • NP_001394789.1:p.Val756fs
  • NP_001394790.1:p.Val756fs
  • NP_001394791.1:p.Val690fs
  • NP_001394792.1:p.Val716fs
  • NP_001394803.1:p.Val689fs
  • NP_001394804.1:p.Val689fs
  • NP_001394808.1:p.Val687fs
  • NP_001394810.1:p.Val687fs
  • NP_001394811.1:p.Val687fs
  • NP_001394813.1:p.Val687fs
  • NP_001394814.1:p.Val687fs
  • NP_001394815.1:p.Val687fs
  • NP_001394816.1:p.Val687fs
  • NP_001394818.1:p.Val687fs
  • NP_001394823.1:p.Val686fs
  • NP_001394824.1:p.Val686fs
  • NP_001394825.1:p.Val686fs
  • NP_001394826.1:p.Val686fs
  • NP_001394827.1:p.Val686fs
  • NP_001394828.1:p.Val686fs
  • NP_001394829.1:p.Val687fs
  • NP_001394831.1:p.Val687fs
  • NP_001394833.1:p.Val687fs
  • NP_001394835.1:p.Val687fs
  • NP_001394836.1:p.Val687fs
  • NP_001394837.1:p.Val687fs
  • NP_001394838.1:p.Val687fs
  • NP_001394839.1:p.Val687fs
  • NP_001394844.1:p.Val686fs
  • NP_001394845.1:p.Val686fs
  • NP_001394846.1:p.Val686fs
  • NP_001394847.1:p.Val686fs
  • NP_001394848.1:p.Val716fs
  • NP_001394849.1:p.Val669fs
  • NP_001394850.1:p.Val669fs
  • NP_001394851.1:p.Val669fs
  • NP_001394852.1:p.Val669fs
  • NP_001394853.1:p.Val669fs
  • NP_001394854.1:p.Val669fs
  • NP_001394855.1:p.Val669fs
  • NP_001394856.1:p.Val669fs
  • NP_001394857.1:p.Val669fs
  • NP_001394858.1:p.Val669fs
  • NP_001394859.1:p.Val668fs
  • NP_001394860.1:p.Val668fs
  • NP_001394861.1:p.Val668fs
  • NP_001394862.1:p.Val669fs
  • NP_001394863.1:p.Val668fs
  • NP_001394864.1:p.Val669fs
  • NP_001394865.1:p.Val668fs
  • NP_001394866.1:p.Val716fs
  • NP_001394867.1:p.Val716fs
  • NP_001394868.1:p.Val716fs
  • NP_001394869.1:p.Val715fs
  • NP_001394870.1:p.Val715fs
  • NP_001394871.1:p.Val710fs
  • NP_001394872.1:p.Val709fs
  • NP_001394873.1:p.Val710fs
  • NP_001394874.1:p.Val710fs
  • NP_001394875.1:p.Val646fs
  • NP_001394876.1:p.Val646fs
  • NP_001394877.1:p.Val646fs
  • NP_001394878.1:p.Val646fs
  • NP_001394879.1:p.Val646fs
  • NP_001394880.1:p.Val646fs
  • NP_001394881.1:p.Val646fs
  • NP_001394882.1:p.Val646fs
  • NP_001394883.1:p.Val645fs
  • NP_001394884.1:p.Val645fs
  • NP_001394885.1:p.Val645fs
  • NP_001394886.1:p.Val646fs
  • NP_001394887.1:p.Val645fs
  • NP_001394888.1:p.Val630fs
  • NP_001394889.1:p.Val630fs
  • NP_001394891.1:p.Val629fs
  • NP_001394892.1:p.Val630fs
  • NP_001394893.1:p.Val709fs
  • NP_001394894.1:p.Val589fs
  • NP_001394895.1:p.Val461fs
  • NP_001394896.1:p.Val461fs
  • NP_009225.1:p.Val757Phefs
  • NP_009225.1:p.Val757fs
  • NP_009228.2:p.Val710fs
  • NP_009231.2:p.Val757fs
  • LRG_292t1:c.2267del
  • LRG_292:g.124722del
  • LRG_292p1:p.Val757Phefs
  • NC_000017.10:g.41245279del
  • NC_000017.10:g.41245279delC
  • NC_000017.10:g.41245281del
  • NC_000017.10:g.41245281del
  • NM_007294.3:c.2267delG
  • NM_007294.3:c.2269delG
  • NM_007294.4:c.2269del
  • NM_007300.3:c.2269delG
  • NR_027676.1:n.2403delG
  • U14680.1:n.2388delG
Nucleotide change:
2388delG
Protein change:
V461fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 2388&base_change=del G; dbSNP: rs80357583
NCBI 1000 Genomes Browser:
rs80357583
Molecular consequence:
  • NM_001407571.1:c.2056del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.2266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.2266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.2266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.2266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.2266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.2266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.2266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.2266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.2266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.2266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.2266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.2266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.2266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.2266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.2266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.2266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.2266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.2266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.2266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.2266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.2266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.2266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.2266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.2260del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.2260del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.2146del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.2143del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.2191del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.2191del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.2191del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.2191del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.2191del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.2191del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.2188del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.2188del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.2188del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.2188del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.2191del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.2146del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.2146del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.2146del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.2146del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.2146del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.2146del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.2143del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.2143del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.2143del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.2143del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.2146del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.2146del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.2146del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.2146del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.2146del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.2146del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.2146del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.2146del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.2146del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.2146del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.2143del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.2143del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.2143del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.2143del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.2143del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.2143del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.2143del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.2125del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.2125del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.2125del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.2125del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.2125del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.2125del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.2125del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.2125del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.2125del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.2125del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.2125del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.2125del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.2125del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.2125del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.2125del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.2125del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.2125del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.2125del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.2125del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.2125del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.2125del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.2056del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407854.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407858.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407859.1:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407860.1:c.2266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407861.1:c.2266del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.2068del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.2146del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.2065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.2065del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.2059del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.2059del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.2059del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.2059del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.2059del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.2059del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.2059del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.2059del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.2056del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.2056del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.2056del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.2056del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.2056del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.2056del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.2059del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.2059del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.2059del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.2059del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.2059del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.2059del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.2059del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.2059del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.2056del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.2056del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.2056del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.2056del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.2146del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.2005del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.2005del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.2005del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.2005del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.2005del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.2005del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.2005del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.2005del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.2005del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.2005del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.2002del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.2002del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.2002del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.2005del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.2002del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.2005del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.2002del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407937.1:c.2146del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407938.1:c.2146del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407939.1:c.2146del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407940.1:c.2143del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407941.1:c.2143del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407942.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407943.1:c.2125del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407944.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407945.1:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.1936del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.1936del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.1936del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.1936del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.1936del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.1936del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.1936del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.1936del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.1933del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.1933del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.1933del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.1936del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.1933del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.1888del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.1888del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.1885del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.1888del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.2125del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.1765del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.1381del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.1381del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.2128del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.2269del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.788-1123del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407969.1:c.788-1123del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407970.1:c.787+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407971.1:c.787+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407972.1:c.784+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407973.1:c.787+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407974.1:c.787+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407975.1:c.787+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407976.1:c.787+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407977.1:c.787+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407978.1:c.787+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407979.1:c.787+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407980.1:c.787+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407981.1:c.787+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407982.1:c.787+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407983.1:c.787+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407984.1:c.784+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407985.1:c.784+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407986.1:c.784+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407990.1:c.787+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407991.1:c.784+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407992.1:c.784+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407993.1:c.787+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408392.1:c.784+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408396.1:c.784+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408397.1:c.784+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408398.1:c.784+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408399.1:c.784+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408400.1:c.784+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408401.1:c.784+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408402.1:c.784+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408403.1:c.787+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408404.1:c.787+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408406.1:c.790+1479del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408407.1:c.784+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408408.1:c.778+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408409.1:c.709+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408410.1:c.646+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408411.1:c.709+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408412.1:c.709+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408413.1:c.706+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408414.1:c.709+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408415.1:c.709+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408416.1:c.706+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408418.1:c.671-2230del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408419.1:c.671-2230del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408420.1:c.671-2230del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408421.1:c.668-2230del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408422.1:c.671-2230del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408423.1:c.671-2230del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408424.1:c.668-2230del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408425.1:c.664+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408426.1:c.664+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408427.1:c.664+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408428.1:c.664+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408429.1:c.664+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408430.1:c.664+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408431.1:c.668-2230del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408432.1:c.661+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408433.1:c.661+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408434.1:c.661+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408435.1:c.661+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408436.1:c.664+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408437.1:c.664+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408438.1:c.664+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408439.1:c.664+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408440.1:c.664+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408441.1:c.664+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408442.1:c.664+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408443.1:c.664+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408444.1:c.664+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408445.1:c.661+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408446.1:c.661+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408447.1:c.661+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408448.1:c.661+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408450.1:c.661+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408451.1:c.652+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408452.1:c.646+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408453.1:c.646+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408454.1:c.646+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408455.1:c.646+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408456.1:c.646+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408457.1:c.646+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408458.1:c.646+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408459.1:c.646+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408460.1:c.646+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408461.1:c.646+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408462.1:c.643+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408463.1:c.643+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408464.1:c.643+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408465.1:c.643+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408466.1:c.646+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408467.1:c.646+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408468.1:c.643+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408469.1:c.646+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408470.1:c.643+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408472.1:c.787+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408473.1:c.784+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408474.1:c.586+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408475.1:c.583+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408476.1:c.586+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408478.1:c.577+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408479.1:c.577+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408480.1:c.577+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408481.1:c.577+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408482.1:c.577+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408483.1:c.577+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408484.1:c.577+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408485.1:c.577+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408489.1:c.577+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408490.1:c.574+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408491.1:c.574+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408492.1:c.577+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408493.1:c.574+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408494.1:c.548-2230del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408495.1:c.545-2230del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408496.1:c.523+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408497.1:c.523+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408498.1:c.523+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408499.1:c.523+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408500.1:c.523+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408501.1:c.523+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408502.1:c.454+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408503.1:c.520+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408504.1:c.520+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408505.1:c.520+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408506.1:c.461-2230del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408507.1:c.461-2230del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408508.1:c.451+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408509.1:c.451+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408510.1:c.406+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408511.1:c.404-2230del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408512.1:c.283+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408513.1:c.577+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001408514.1:c.577+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007298.4:c.787+1482del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.787+1482del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000275788Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Aug 4, 2022) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link,

SCV000911348Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 13, 2021) 		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

Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan.

Liede A, Malik IA, Aziz Z, Rios Pd Pde L, Kwan E, Narod SA.

Am J Hum Genet. 2002 Sep;71(3):595-606. Epub 2002 Aug 13.

PubMed [citation]
PMID:
12181777
PMCID:
PMC379195

The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population.

Stegel V, Krajc M, Zgajnar J, Teugels E, De Grève J, Hočevar M, Novaković S.

BMC Med Genet. 2011 Jan 14;12:9. doi: 10.1186/1471-2350-12-9.

PubMed [citation]
PMID:
21232165
PMCID:
PMC3025939
See all PubMed Citations (6)

Details of each submission

From Ambry Genetics, SCV000275788.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

The c.2269delG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 2269, causing a translational frameshift with a predicted alternate stop codon (p.V757Ffs*8). This mutation has been identified in multiple families with Hereditary Breast and Ovarian Cancer (HBOC) syndrome (Sobol H et al. Cancer Res. 1996 Jul;56:3216-9; Stoppa-Lyonnet D et al. Am. J. Hum. Genet. 1997 May;60:1021-30; Liede A et al. Am. J. Hum. Genet. 2002 Sep;71:595-606; Stegel V et al. BMC Med. Genet. 2011 Jan;12:9; Kang E et al. Breast Cancer Res. Treat. 2015 May;151:157-68; Azzollini J et al. Eur. J. Intern. Med. 2016 Jul;32:65-71; Rashid MU et al. BMC Cancer 2016 08;16(1):673). Of note, this alteration is also designated as 2388delG in published literature. In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

From Color Diagnostics, LLC DBA Color Health, SCV000911348.4

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

Description

This variant deletes 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional studies have not been reported for this variant. This variant has been observed in at least seven individuals and families affected with breast and ovarian cancer (PMID: 8764110, 9150149, 12181777, 16998791, 21232165, 25863477, 30040829). This variant has been identified in 1/251198 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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

Last Updated: Nov 24, 2024