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NM_007294.4(BRCA1):c.5512del (p.Val1838fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001380438.14

Allele description [Variation Report for NM_007294.4(BRCA1):c.5512del (p.Val1838fs)]

NM_007294.4(BRCA1):c.5512del (p.Val1838fs)

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.5512del (p.Val1838fs)
Other names:
5629delG
HGVS:
  • NC_000017.10:g.41197775del
  • NC_000017.11:g.43045760del
  • NG_005905.2:g.172226del
  • NM_001407571.1:c.5297delG
  • NM_001407581.1:c.5576delG
  • NM_001407582.1:c.5576delG
  • NM_001407583.1:c.5573delG
  • NM_001407585.1:c.5573delG
  • NM_001407587.1:c.5573delG
  • NM_001407590.1:c.5570delG
  • NM_001407591.1:c.5570delG
  • NM_001407593.1:c.5510delG
  • NM_001407594.1:c.5510delG
  • NM_001407596.1:c.5510delG
  • NM_001407597.1:c.5510delG
  • NM_001407598.1:c.5510delG
  • NM_001407602.1:c.5510delG
  • NM_001407603.1:c.5510delG
  • NM_001407605.1:c.5510delG
  • NM_001407610.1:c.5507delG
  • NM_001407611.1:c.5507delG
  • NM_001407612.1:c.5507delG
  • NM_001407613.1:c.5507delG
  • NM_001407614.1:c.5507delG
  • NM_001407615.1:c.5507delG
  • NM_001407616.1:c.5507delG
  • NM_001407617.1:c.5507delG
  • NM_001407618.1:c.5507delG
  • NM_001407619.1:c.5507delG
  • NM_001407620.1:c.5507delG
  • NM_001407621.1:c.5507delG
  • NM_001407622.1:c.5507delG
  • NM_001407623.1:c.5507delG
  • NM_001407624.1:c.5507delG
  • NM_001407625.1:c.5507delG
  • NM_001407626.1:c.5507delG
  • NM_001407627.1:c.5504delG
  • NM_001407628.1:c.5504delG
  • NM_001407629.1:c.5504delG
  • NM_001407630.1:c.5504delG
  • NM_001407631.1:c.5504delG
  • NM_001407632.1:c.5504delG
  • NM_001407633.1:c.5504delG
  • NM_001407634.1:c.5504delG
  • NM_001407635.1:c.5504delG
  • NM_001407636.1:c.5504delG
  • NM_001407637.1:c.5504delG
  • NM_001407638.1:c.5504delG
  • NM_001407639.1:c.5504delG
  • NM_001407640.1:c.5504delG
  • NM_001407641.1:c.5504delG
  • NM_001407642.1:c.5504delG
  • NM_001407644.1:c.5501delG
  • NM_001407645.1:c.5501delG
  • NM_001407646.1:c.5498delG
  • NM_001407647.1:c.5495delG
  • NM_001407648.1:c.5453delG
  • NM_001407649.1:c.5450delG
  • NM_001407652.1:c.5432delG
  • NM_001407653.1:c.5432delG
  • NM_001407654.1:c.5432delG
  • NM_001407655.1:c.5432delG
  • NM_001407656.1:c.5429delG
  • NM_001407657.1:c.5429delG
  • NM_001407658.1:c.5429delG
  • NM_001407659.1:c.5426delG
  • NM_001407660.1:c.5426delG
  • NM_001407661.1:c.5426delG
  • NM_001407662.1:c.5426delG
  • NM_001407663.1:c.5426delG
  • NM_001407664.1:c.5387delG
  • NM_001407665.1:c.5387delG
  • NM_001407666.1:c.5387delG
  • NM_001407667.1:c.5387delG
  • NM_001407668.1:c.5387delG
  • NM_001407669.1:c.5387delG
  • NM_001407670.1:c.5384delG
  • NM_001407671.1:c.5384delG
  • NM_001407672.1:c.5384delG
  • NM_001407673.1:c.5384delG
  • NM_001407674.1:c.5384delG
  • NM_001407675.1:c.5384delG
  • NM_001407676.1:c.5384delG
  • NM_001407677.1:c.5384delG
  • NM_001407678.1:c.5384delG
  • NM_001407679.1:c.5384delG
  • NM_001407680.1:c.5384delG
  • NM_001407681.1:c.5381delG
  • NM_001407682.1:c.5381delG
  • NM_001407683.1:c.5381delG
  • NM_001407684.1:c.5381delG
  • NM_001407685.1:c.5381delG
  • NM_001407686.1:c.5381delG
  • NM_001407687.1:c.5381delG
  • NM_001407688.1:c.5381delG
  • NM_001407689.1:c.5381delG
  • NM_001407690.1:c.5378delG
  • NM_001407691.1:c.5378delG
  • NM_001407692.1:c.5369delG
  • NM_001407694.1:c.5369delG
  • NM_001407695.1:c.5369delG
  • NM_001407696.1:c.5369delG
  • NM_001407697.1:c.5369delG
  • NM_001407698.1:c.5369delG
  • NM_001407724.1:c.5369delG
  • NM_001407725.1:c.5369delG
  • NM_001407726.1:c.5369delG
  • NM_001407727.1:c.5369delG
  • NM_001407728.1:c.5369delG
  • NM_001407729.1:c.5369delG
  • NM_001407730.1:c.5369delG
  • NM_001407731.1:c.5369delG
  • NM_001407732.1:c.5366delG
  • NM_001407733.1:c.5366delG
  • NM_001407734.1:c.5366delG
  • NM_001407735.1:c.5366delG
  • NM_001407736.1:c.5366delG
  • NM_001407737.1:c.5366delG
  • NM_001407738.1:c.5366delG
  • NM_001407739.1:c.5366delG
  • NM_001407740.1:c.5366delG
  • NM_001407741.1:c.5366delG
  • NM_001407742.1:c.5366delG
  • NM_001407743.1:c.5366delG
  • NM_001407744.1:c.5366delG
  • NM_001407745.1:c.5366delG
  • NM_001407746.1:c.5366delG
  • NM_001407747.1:c.5366delG
  • NM_001407748.1:c.5366delG
  • NM_001407749.1:c.5366delG
  • NM_001407750.1:c.5366delG
  • NM_001407751.1:c.5366delG
  • NM_001407752.1:c.5366delG
  • NM_001407838.1:c.5363delG
  • NM_001407839.1:c.5363delG
  • NM_001407841.1:c.5363delG
  • NM_001407842.1:c.5363delG
  • NM_001407843.1:c.5363delG
  • NM_001407844.1:c.5363delG
  • NM_001407845.1:c.5363delG
  • NM_001407846.1:c.5363delG
  • NM_001407847.1:c.5363delG
  • NM_001407848.1:c.5363delG
  • NM_001407849.1:c.5363delG
  • NM_001407850.1:c.5363delG
  • NM_001407851.1:c.5363delG
  • NM_001407852.1:c.5363delG
  • NM_001407853.1:c.5363delG
  • NM_001407854.1:c.*24delG
  • NM_001407858.1:c.*24delG
  • NM_001407859.1:c.*24delG
  • NM_001407860.1:c.*24delG
  • NM_001407861.1:c.*24delG
  • NM_001407862.1:c.5309delG
  • NM_001407863.1:c.5306delG
  • NM_001407874.1:c.5303delG
  • NM_001407875.1:c.5303delG
  • NM_001407879.1:c.5300delG
  • NM_001407881.1:c.5300delG
  • NM_001407882.1:c.5300delG
  • NM_001407884.1:c.5300delG
  • NM_001407885.1:c.5300delG
  • NM_001407886.1:c.5300delG
  • NM_001407887.1:c.5300delG
  • NM_001407889.1:c.5300delG
  • NM_001407894.1:c.5297delG
  • NM_001407895.1:c.5297delG
  • NM_001407896.1:c.5297delG
  • NM_001407897.1:c.5297delG
  • NM_001407898.1:c.5297delG
  • NM_001407899.1:c.5297delG
  • NM_001407900.1:c.5297delG
  • NM_001407902.1:c.5297delG
  • NM_001407904.1:c.5297delG
  • NM_001407906.1:c.5297delG
  • NM_001407907.1:c.5297delG
  • NM_001407908.1:c.5297delG
  • NM_001407909.1:c.5297delG
  • NM_001407910.1:c.5297delG
  • NM_001407915.1:c.5294delG
  • NM_001407916.1:c.5294delG
  • NM_001407917.1:c.5294delG
  • NM_001407918.1:c.5294delG
  • NM_001407919.1:c.5258delG
  • NM_001407920.1:c.5246delG
  • NM_001407921.1:c.5246delG
  • NM_001407922.1:c.5246delG
  • NM_001407923.1:c.5246delG
  • NM_001407924.1:c.5246delG
  • NM_001407925.1:c.5246delG
  • NM_001407926.1:c.5246delG
  • NM_001407927.1:c.5243delG
  • NM_001407928.1:c.5243delG
  • NM_001407929.1:c.5243delG
  • NM_001407930.1:c.5243delG
  • NM_001407931.1:c.5243delG
  • NM_001407932.1:c.5243delG
  • NM_001407933.1:c.5243delG
  • NM_001407934.1:c.5240delG
  • NM_001407935.1:c.5240delG
  • NM_001407936.1:c.5240delG
  • NM_001407937.1:c.*24delG
  • NM_001407938.1:c.*24delG
  • NM_001407939.1:c.*24delG
  • NM_001407940.1:c.*24delG
  • NM_001407941.1:c.*24delG
  • NM_001407942.1:c.*24delG
  • NM_001407943.1:c.*24delG
  • NM_001407944.1:c.*24delG
  • NM_001407945.1:c.*24delG
  • NM_001407946.1:c.5177delG
  • NM_001407947.1:c.5177delG
  • NM_001407948.1:c.5177delG
  • NM_001407949.1:c.5177delG
  • NM_001407950.1:c.5174delG
  • NM_001407951.1:c.5174delG
  • NM_001407952.1:c.5174delG
  • NM_001407953.1:c.5174delG
  • NM_001407954.1:c.5174delG
  • NM_001407955.1:c.5174delG
  • NM_001407956.1:c.5171delG
  • NM_001407957.1:c.5171delG
  • NM_001407958.1:c.5171delG
  • NM_001407959.1:c.5129delG
  • NM_001407960.1:c.5126delG
  • NM_001407962.1:c.5126delG
  • NM_001407963.1:c.5123delG
  • NM_001407964.1:c.5048delG
  • NM_001407965.1:c.5003delG
  • NM_001407966.1:c.4622delG
  • NM_001407967.1:c.4619delG
  • NM_001407968.1:c.2906delG
  • NM_001407969.1:c.2903delG
  • NM_001407970.1:c.2267delG
  • NM_001407971.1:c.2267delG
  • NM_001407972.1:c.2264delG
  • NM_001407973.1:c.2201delG
  • NM_001407974.1:c.2201delG
  • NM_001407975.1:c.2201delG
  • NM_001407976.1:c.2201delG
  • NM_001407977.1:c.2201delG
  • NM_001407978.1:c.2201delG
  • NM_001407979.1:c.2198delG
  • NM_001407980.1:c.2198delG
  • NM_001407981.1:c.2198delG
  • NM_001407982.1:c.2198delG
  • NM_001407983.1:c.2198delG
  • NM_001407984.1:c.2198delG
  • NM_001407985.1:c.2198delG
  • NM_001407986.1:c.2198delG
  • NM_001407990.1:c.2198delG
  • NM_001407991.1:c.2198delG
  • NM_001407992.1:c.2198delG
  • NM_001407993.1:c.2198delG
  • NM_001408392.1:c.2195delG
  • NM_001408396.1:c.2195delG
  • NM_001408397.1:c.2195delG
  • NM_001408398.1:c.2195delG
  • NM_001408399.1:c.2195delG
  • NM_001408400.1:c.2195delG
  • NM_001408401.1:c.2195delG
  • NM_001408402.1:c.2195delG
  • NM_001408403.1:c.2195delG
  • NM_001408404.1:c.2195delG
  • NM_001408406.1:c.2192delG
  • NM_001408407.1:c.2192delG
  • NM_001408408.1:c.2192delG
  • NM_001408409.1:c.2189delG
  • NM_001408410.1:c.2126delG
  • NM_001408411.1:c.2123delG
  • NM_001408412.1:c.2120delG
  • NM_001408413.1:c.2120delG
  • NM_001408414.1:c.2120delG
  • NM_001408415.1:c.2120delG
  • NM_001408416.1:c.2120delG
  • NM_001408418.1:c.2084delG
  • NM_001408419.1:c.2084delG
  • NM_001408420.1:c.2084delG
  • NM_001408421.1:c.2081delG
  • NM_001408422.1:c.2081delG
  • NM_001408423.1:c.2081delG
  • NM_001408424.1:c.2081delG
  • NM_001408425.1:c.2078delG
  • NM_001408426.1:c.2078delG
  • NM_001408427.1:c.2078delG
  • NM_001408428.1:c.2078delG
  • NM_001408429.1:c.2078delG
  • NM_001408430.1:c.2078delG
  • NM_001408431.1:c.2078delG
  • NM_001408432.1:c.2075delG
  • NM_001408433.1:c.2075delG
  • NM_001408434.1:c.2075delG
  • NM_001408435.1:c.2075delG
  • NM_001408436.1:c.2075delG
  • NM_001408437.1:c.2075delG
  • NM_001408438.1:c.2075delG
  • NM_001408439.1:c.2075delG
  • NM_001408440.1:c.2075delG
  • NM_001408441.1:c.2075delG
  • NM_001408442.1:c.2075delG
  • NM_001408443.1:c.2075delG
  • NM_001408444.1:c.2075delG
  • NM_001408445.1:c.2072delG
  • NM_001408446.1:c.2072delG
  • NM_001408447.1:c.2072delG
  • NM_001408448.1:c.2072delG
  • NM_001408450.1:c.2072delG
  • NM_001408451.1:c.2066delG
  • NM_001408452.1:c.2060delG
  • NM_001408453.1:c.2060delG
  • NM_001408454.1:c.2060delG
  • NM_001408455.1:c.2060delG
  • NM_001408456.1:c.2060delG
  • NM_001408457.1:c.2060delG
  • NM_001408458.1:c.2057delG
  • NM_001408459.1:c.2057delG
  • NM_001408460.1:c.2057delG
  • NM_001408461.1:c.2057delG
  • NM_001408462.1:c.2057delG
  • NM_001408463.1:c.2057delG
  • NM_001408464.1:c.2057delG
  • NM_001408465.1:c.2057delG
  • NM_001408466.1:c.2057delG
  • NM_001408467.1:c.2057delG
  • NM_001408468.1:c.2054delG
  • NM_001408469.1:c.2054delG
  • NM_001408470.1:c.2054delG
  • NM_001408472.1:c.*24delG
  • NM_001408473.1:c.*24delG
  • NM_001408474.1:c.2000delG
  • NM_001408475.1:c.1997delG
  • NM_001408476.1:c.1997delG
  • NM_001408478.1:c.1991delG
  • NM_001408479.1:c.1991delG
  • NM_001408480.1:c.1991delG
  • NM_001408481.1:c.1988delG
  • NM_001408482.1:c.1988delG
  • NM_001408483.1:c.1988delG
  • NM_001408484.1:c.1988delG
  • NM_001408485.1:c.1988delG
  • NM_001408489.1:c.1988delG
  • NM_001408490.1:c.1988delG
  • NM_001408491.1:c.1988delG
  • NM_001408492.1:c.1985delG
  • NM_001408493.1:c.1985delG
  • NM_001408494.1:c.1961delG
  • NM_001408495.1:c.1955delG
  • NM_001408496.1:c.1937delG
  • NM_001408497.1:c.1937delG
  • NM_001408498.1:c.1937delG
  • NM_001408499.1:c.1937delG
  • NM_001408500.1:c.1937delG
  • NM_001408501.1:c.1937delG
  • NM_001408502.1:c.1934delG
  • NM_001408503.1:c.1934delG
  • NM_001408504.1:c.1934delG
  • NM_001408505.1:c.1931delG
  • NM_001408506.1:c.1874delG
  • NM_001408507.1:c.1871delG
  • NM_001408508.1:c.1862delG
  • NM_001408509.1:c.1859delG
  • NM_001408510.1:c.1820delG
  • NM_001408511.1:c.1817delG
  • NM_001408512.1:c.1697delG
  • NM_001408513.1:c.1670delG
  • NM_001408514.1:c.1274delG
  • NM_007294.4:c.5512delMANE SELECT
  • NM_007297.4:c.5371del
  • NM_007298.4:c.2198delG
  • NM_007299.4:c.*26del
  • NM_007300.4:c.5575del
  • NM_007304.2:c.2198delG
  • NP_001394500.1:p.Val1767Cysfs
  • NP_001394510.1:p.Val1860Cysfs
  • NP_001394511.1:p.Val1860Cysfs
  • NP_001394512.1:p.Val1859Cysfs
  • NP_001394514.1:p.Val1859Cysfs
  • NP_001394516.1:p.Val1859Cysfs
  • NP_001394519.1:p.Val1858Cysfs
  • NP_001394520.1:p.Val1858Cysfs
  • NP_001394522.1:p.Val1838Cysfs
  • NP_001394523.1:p.Val1838Cysfs
  • NP_001394525.1:p.Val1838Cysfs
  • NP_001394526.1:p.Val1838Cysfs
  • NP_001394527.1:p.Val1838Cysfs
  • NP_001394531.1:p.Val1838Cysfs
  • NP_001394532.1:p.Val1838Cysfs
  • NP_001394534.1:p.Val1838Cysfs
  • NP_001394539.1:p.Val1837Cysfs
  • NP_001394540.1:p.Val1837Cysfs
  • NP_001394541.1:p.Val1837Cysfs
  • NP_001394542.1:p.Val1837Cysfs
  • NP_001394543.1:p.Val1837Cysfs
  • NP_001394544.1:p.Val1837Cysfs
  • NP_001394545.1:p.Val1837Cysfs
  • NP_001394546.1:p.Val1837Cysfs
  • NP_001394547.1:p.Val1837Cysfs
  • NP_001394548.1:p.Val1837Cysfs
  • NP_001394549.1:p.Val1837Cysfs
  • NP_001394550.1:p.Val1837Cysfs
  • NP_001394551.1:p.Val1837Cysfs
  • NP_001394552.1:p.Val1837Cysfs
  • NP_001394553.1:p.Val1837Cysfs
  • NP_001394554.1:p.Val1837Cysfs
  • NP_001394555.1:p.Val1837Cysfs
  • NP_001394556.1:p.Val1836Cysfs
  • NP_001394557.1:p.Val1836Cysfs
  • NP_001394558.1:p.Val1836Cysfs
  • NP_001394559.1:p.Val1836Cysfs
  • NP_001394560.1:p.Val1836Cysfs
  • NP_001394561.1:p.Val1836Cysfs
  • NP_001394562.1:p.Val1836Cysfs
  • NP_001394563.1:p.Val1836Cysfs
  • NP_001394564.1:p.Val1836Cysfs
  • NP_001394565.1:p.Val1836Cysfs
  • NP_001394566.1:p.Val1836Cysfs
  • NP_001394567.1:p.Val1836Cysfs
  • NP_001394568.1:p.Val1836Cysfs
  • NP_001394569.1:p.Val1836Cysfs
  • NP_001394570.1:p.Val1836Cysfs
  • NP_001394571.1:p.Val1836Cysfs
  • NP_001394573.1:p.Val1835Cysfs
  • NP_001394574.1:p.Val1835Cysfs
  • NP_001394575.1:p.Val1834Cysfs
  • NP_001394576.1:p.Val1833Cysfs
  • NP_001394577.1:p.Val1819Cysfs
  • NP_001394578.1:p.Val1818Cysfs
  • NP_001394581.1:p.Val1812Cysfs
  • NP_001394582.1:p.Val1812Cysfs
  • NP_001394583.1:p.Val1812Cysfs
  • NP_001394584.1:p.Val1812Cysfs
  • NP_001394585.1:p.Val1811Cysfs
  • NP_001394586.1:p.Val1811Cysfs
  • NP_001394587.1:p.Val1811Cysfs
  • NP_001394588.1:p.Val1810Cysfs
  • NP_001394589.1:p.Val1810Cysfs
  • NP_001394590.1:p.Val1810Cysfs
  • NP_001394591.1:p.Val1810Cysfs
  • NP_001394592.1:p.Val1810Cysfs
  • NP_001394593.1:p.Val1797Cysfs
  • NP_001394594.1:p.Val1797Cysfs
  • NP_001394595.1:p.Val1797Cysfs
  • NP_001394596.1:p.Val1797Cysfs
  • NP_001394597.1:p.Val1797Cysfs
  • NP_001394598.1:p.Val1797Cysfs
  • NP_001394599.1:p.Val1796Cysfs
  • NP_001394600.1:p.Val1796Cysfs
  • NP_001394601.1:p.Val1796Cysfs
  • NP_001394602.1:p.Val1796Cysfs
  • NP_001394603.1:p.Val1796Cysfs
  • NP_001394604.1:p.Val1796Cysfs
  • NP_001394605.1:p.Val1796Cysfs
  • NP_001394606.1:p.Val1796Cysfs
  • NP_001394607.1:p.Val1796Cysfs
  • NP_001394608.1:p.Val1796Cysfs
  • NP_001394609.1:p.Val1796Cysfs
  • NP_001394610.1:p.Val1795Cysfs
  • NP_001394611.1:p.Val1795Cysfs
  • NP_001394612.1:p.Val1795Cysfs
  • NP_001394613.1:p.Val1795Cysfs
  • NP_001394614.1:p.Val1795Cysfs
  • NP_001394615.1:p.Val1795Cysfs
  • NP_001394616.1:p.Val1795Cysfs
  • NP_001394617.1:p.Val1795Cysfs
  • NP_001394618.1:p.Val1795Cysfs
  • NP_001394619.1:p.Val1794Cysfs
  • NP_001394620.1:p.Val1794Cysfs
  • NP_001394621.1:p.Val1791Cysfs
  • NP_001394623.1:p.Val1791Cysfs
  • NP_001394624.1:p.Val1791Cysfs
  • NP_001394625.1:p.Val1791Cysfs
  • NP_001394626.1:p.Val1791Cysfs
  • NP_001394627.1:p.Val1791Cysfs
  • NP_001394653.1:p.Val1791Cysfs
  • NP_001394654.1:p.Val1791Cysfs
  • NP_001394655.1:p.Val1791Cysfs
  • NP_001394656.1:p.Val1791Cysfs
  • NP_001394657.1:p.Val1791Cysfs
  • NP_001394658.1:p.Val1791Cysfs
  • NP_001394659.1:p.Val1791Cysfs
  • NP_001394660.1:p.Val1791Cysfs
  • NP_001394661.1:p.Val1790Cysfs
  • NP_001394662.1:p.Val1790Cysfs
  • NP_001394663.1:p.Val1790Cysfs
  • NP_001394664.1:p.Val1790Cysfs
  • NP_001394665.1:p.Val1790Cysfs
  • NP_001394666.1:p.Val1790Cysfs
  • NP_001394667.1:p.Val1790Cysfs
  • NP_001394668.1:p.Val1790Cysfs
  • NP_001394669.1:p.Val1790Cysfs
  • NP_001394670.1:p.Val1790Cysfs
  • NP_001394671.1:p.Val1790Cysfs
  • NP_001394672.1:p.Val1790Cysfs
  • NP_001394673.1:p.Val1790Cysfs
  • NP_001394674.1:p.Val1790Cysfs
  • NP_001394675.1:p.Val1790Cysfs
  • NP_001394676.1:p.Val1790Cysfs
  • NP_001394677.1:p.Val1790Cysfs
  • NP_001394678.1:p.Val1790Cysfs
  • NP_001394679.1:p.Val1790Cysfs
  • NP_001394680.1:p.Val1790Cysfs
  • NP_001394681.1:p.Val1790Cysfs
  • NP_001394767.1:p.Val1789Cysfs
  • NP_001394768.1:p.Val1789Cysfs
  • NP_001394770.1:p.Val1789Cysfs
  • NP_001394771.1:p.Val1789Cysfs
  • NP_001394772.1:p.Val1789Cysfs
  • NP_001394773.1:p.Val1789Cysfs
  • NP_001394774.1:p.Val1789Cysfs
  • NP_001394775.1:p.Val1789Cysfs
  • NP_001394776.1:p.Val1789Cysfs
  • NP_001394777.1:p.Val1789Cysfs
  • NP_001394778.1:p.Val1789Cysfs
  • NP_001394779.1:p.Val1789Cysfs
  • NP_001394780.1:p.Val1789Cysfs
  • NP_001394781.1:p.Val1789Cysfs
  • NP_001394782.1:p.Val1789Cysfs
  • NP_001394791.1:p.Val1771Cysfs
  • NP_001394792.1:p.Val1770Cysfs
  • NP_001394803.1:p.Val1769Cysfs
  • NP_001394804.1:p.Val1769Cysfs
  • NP_001394808.1:p.Val1768Cysfs
  • NP_001394810.1:p.Val1768Cysfs
  • NP_001394811.1:p.Val1768Cysfs
  • NP_001394813.1:p.Val1768Cysfs
  • NP_001394814.1:p.Val1768Cysfs
  • NP_001394815.1:p.Val1768Cysfs
  • NP_001394816.1:p.Val1768Cysfs
  • NP_001394818.1:p.Val1768Cysfs
  • NP_001394823.1:p.Val1767Cysfs
  • NP_001394824.1:p.Val1767Cysfs
  • NP_001394825.1:p.Val1767Cysfs
  • NP_001394826.1:p.Val1767Cysfs
  • NP_001394827.1:p.Val1767Cysfs
  • NP_001394828.1:p.Val1767Cysfs
  • NP_001394829.1:p.Val1767Cysfs
  • NP_001394831.1:p.Val1767Cysfs
  • NP_001394833.1:p.Val1767Cysfs
  • NP_001394835.1:p.Val1767Cysfs
  • NP_001394836.1:p.Val1767Cysfs
  • NP_001394837.1:p.Val1767Cysfs
  • NP_001394838.1:p.Val1767Cysfs
  • NP_001394839.1:p.Val1767Cysfs
  • NP_001394844.1:p.Val1766Cysfs
  • NP_001394845.1:p.Val1766Cysfs
  • NP_001394846.1:p.Val1766Cysfs
  • NP_001394847.1:p.Val1766Cysfs
  • NP_001394848.1:p.Val1754Cysfs
  • NP_001394849.1:p.Val1750Cysfs
  • NP_001394850.1:p.Val1750Cysfs
  • NP_001394851.1:p.Val1750Cysfs
  • NP_001394852.1:p.Val1750Cysfs
  • NP_001394853.1:p.Val1750Cysfs
  • NP_001394854.1:p.Val1750Cysfs
  • NP_001394855.1:p.Val1750Cysfs
  • NP_001394856.1:p.Val1749Cysfs
  • NP_001394857.1:p.Val1749Cysfs
  • NP_001394858.1:p.Val1749Cysfs
  • NP_001394859.1:p.Val1749Cysfs
  • NP_001394860.1:p.Val1749Cysfs
  • NP_001394861.1:p.Val1749Cysfs
  • NP_001394862.1:p.Val1749Cysfs
  • NP_001394863.1:p.Val1748Cysfs
  • NP_001394864.1:p.Val1748Cysfs
  • NP_001394865.1:p.Val1748Cysfs
  • NP_001394875.1:p.Val1727Cysfs
  • NP_001394876.1:p.Val1727Cysfs
  • NP_001394877.1:p.Val1727Cysfs
  • NP_001394878.1:p.Val1727Cysfs
  • NP_001394879.1:p.Val1726Cysfs
  • NP_001394880.1:p.Val1726Cysfs
  • NP_001394881.1:p.Val1726Cysfs
  • NP_001394882.1:p.Val1726Cysfs
  • NP_001394883.1:p.Val1726Cysfs
  • NP_001394884.1:p.Val1726Cysfs
  • NP_001394885.1:p.Val1725Cysfs
  • NP_001394886.1:p.Val1725Cysfs
  • NP_001394887.1:p.Val1725Cysfs
  • NP_001394888.1:p.Val1711Cysfs
  • NP_001394889.1:p.Val1710Cysfs
  • NP_001394891.1:p.Val1710Cysfs
  • NP_001394892.1:p.Val1709Cysfs
  • NP_001394893.1:p.Val1684Cysfs
  • NP_001394894.1:p.Val1669Cysfs
  • NP_001394895.1:p.Val1542Cysfs
  • NP_001394896.1:p.Val1541Cysfs
  • NP_001394897.1:p.Val970Cysfs
  • NP_001394898.1:p.Val969Cysfs
  • NP_001394899.1:p.Val757Cysfs
  • NP_001394900.1:p.Val757Cysfs
  • NP_001394901.1:p.Val756Cysfs
  • NP_001394902.1:p.Val735Cysfs
  • NP_001394903.1:p.Val735Cysfs
  • NP_001394904.1:p.Val735Cysfs
  • NP_001394905.1:p.Val735Cysfs
  • NP_001394906.1:p.Val735Cysfs
  • NP_001394907.1:p.Val735Cysfs
  • NP_001394908.1:p.Val734Cysfs
  • NP_001394909.1:p.Val734Cysfs
  • NP_001394910.1:p.Val734Cysfs
  • NP_001394911.1:p.Val734Cysfs
  • NP_001394912.1:p.Val734Cysfs
  • NP_001394913.1:p.Val734Cysfs
  • NP_001394914.1:p.Val734Cysfs
  • NP_001394915.1:p.Val734Cysfs
  • NP_001394919.1:p.Val734Cysfs
  • NP_001394920.1:p.Val734Cysfs
  • NP_001394921.1:p.Val734Cysfs
  • NP_001394922.1:p.Val734Cysfs
  • NP_001395321.1:p.Val733Cysfs
  • NP_001395325.1:p.Val733Cysfs
  • NP_001395326.1:p.Val733Cysfs
  • NP_001395327.1:p.Val733Cysfs
  • NP_001395328.1:p.Val733Cysfs
  • NP_001395329.1:p.Val733Cysfs
  • NP_001395330.1:p.Val733Cysfs
  • NP_001395331.1:p.Val733Cysfs
  • NP_001395332.1:p.Val733Cysfs
  • NP_001395333.1:p.Val733Cysfs
  • NP_001395335.1:p.Val732Cysfs
  • NP_001395336.1:p.Val732Cysfs
  • NP_001395337.1:p.Val732Cysfs
  • NP_001395338.1:p.Val731Cysfs
  • NP_001395339.1:p.Val710Cysfs
  • NP_001395340.1:p.Val709Cysfs
  • NP_001395341.1:p.Val708Cysfs
  • NP_001395342.1:p.Val708Cysfs
  • NP_001395343.1:p.Val708Cysfs
  • NP_001395344.1:p.Val708Cysfs
  • NP_001395345.1:p.Val708Cysfs
  • NP_001395347.1:p.Val696Cysfs
  • NP_001395348.1:p.Val696Cysfs
  • NP_001395349.1:p.Val696Cysfs
  • NP_001395350.1:p.Val695Cysfs
  • NP_001395351.1:p.Val695Cysfs
  • NP_001395352.1:p.Val695Cysfs
  • NP_001395353.1:p.Val695Cysfs
  • NP_001395354.1:p.Val694Cysfs
  • NP_001395355.1:p.Val694Cysfs
  • NP_001395356.1:p.Val694Cysfs
  • NP_001395357.1:p.Val694Cysfs
  • NP_001395358.1:p.Val694Cysfs
  • NP_001395359.1:p.Val694Cysfs
  • NP_001395360.1:p.Val694Cysfs
  • NP_001395361.1:p.Val693Cysfs
  • NP_001395362.1:p.Val693Cysfs
  • NP_001395363.1:p.Val693Cysfs
  • NP_001395364.1:p.Val693Cysfs
  • NP_001395365.1:p.Val693Cysfs
  • NP_001395366.1:p.Val693Cysfs
  • NP_001395367.1:p.Val693Cysfs
  • NP_001395368.1:p.Val693Cysfs
  • NP_001395369.1:p.Val693Cysfs
  • NP_001395370.1:p.Val693Cysfs
  • NP_001395371.1:p.Val693Cysfs
  • NP_001395372.1:p.Val693Cysfs
  • NP_001395373.1:p.Val693Cysfs
  • NP_001395374.1:p.Val692Cysfs
  • NP_001395375.1:p.Val692Cysfs
  • NP_001395376.1:p.Val692Cysfs
  • NP_001395377.1:p.Val692Cysfs
  • NP_001395379.1:p.Val692Cysfs
  • NP_001395380.1:p.Val690Cysfs
  • NP_001395381.1:p.Val688Cysfs
  • NP_001395382.1:p.Val688Cysfs
  • NP_001395383.1:p.Val688Cysfs
  • NP_001395384.1:p.Val688Cysfs
  • NP_001395385.1:p.Val688Cysfs
  • NP_001395386.1:p.Val688Cysfs
  • NP_001395387.1:p.Val687Cysfs
  • NP_001395388.1:p.Val687Cysfs
  • NP_001395389.1:p.Val687Cysfs
  • NP_001395390.1:p.Val687Cysfs
  • NP_001395391.1:p.Val687Cysfs
  • NP_001395392.1:p.Val687Cysfs
  • NP_001395393.1:p.Val687Cysfs
  • NP_001395394.1:p.Val687Cysfs
  • NP_001395395.1:p.Val687Cysfs
  • NP_001395396.1:p.Val687Cysfs
  • NP_001395397.1:p.Val686Cysfs
  • NP_001395398.1:p.Val686Cysfs
  • NP_001395399.1:p.Val686Cysfs
  • NP_001395403.1:p.Val668Cysfs
  • NP_001395404.1:p.Val667Cysfs
  • NP_001395405.1:p.Val667Cysfs
  • NP_001395407.1:p.Val665Cysfs
  • NP_001395408.1:p.Val665Cysfs
  • NP_001395409.1:p.Val665Cysfs
  • NP_001395410.1:p.Val664Cysfs
  • NP_001395411.1:p.Val664Cysfs
  • NP_001395412.1:p.Val664Cysfs
  • NP_001395413.1:p.Val664Cysfs
  • NP_001395414.1:p.Val664Cysfs
  • NP_001395418.1:p.Val664Cysfs
  • NP_001395419.1:p.Val664Cysfs
  • NP_001395420.1:p.Val664Cysfs
  • NP_001395421.1:p.Val663Cysfs
  • NP_001395422.1:p.Val663Cysfs
  • NP_001395423.1:p.Val655Cysfs
  • NP_001395424.1:p.Val653Cysfs
  • NP_001395425.1:p.Val647Cysfs
  • NP_001395426.1:p.Val647Cysfs
  • NP_001395427.1:p.Val647Cysfs
  • NP_001395428.1:p.Val647Cysfs
  • NP_001395429.1:p.Val647Cysfs
  • NP_001395430.1:p.Val647Cysfs
  • NP_001395431.1:p.Val646Cysfs
  • NP_001395432.1:p.Val646Cysfs
  • NP_001395433.1:p.Val646Cysfs
  • NP_001395434.1:p.Val645Cysfs
  • NP_001395435.1:p.Val626Cysfs
  • NP_001395436.1:p.Val625Cysfs
  • NP_001395437.1:p.Val622Cysfs
  • NP_001395438.1:p.Val621Cysfs
  • NP_001395439.1:p.Val608Cysfs
  • NP_001395440.1:p.Val607Cysfs
  • NP_001395441.1:p.Val567Cysfs
  • NP_001395442.1:p.Val558Cysfs
  • NP_001395443.1:p.Val426Cysfs
  • NP_009225.1:p.Val1838Cysfs
  • NP_009225.1:p.Val1838fs
  • NP_009228.2:p.Val1791fs
  • NP_009229.2:p.Val734Cysfs
  • NP_009229.2:p.Val734fs
  • NP_009231.2:p.Val1859fs
  • NP_009235.2:p.Val734Cysfs
  • LRG_292t1:c.5510del
  • LRG_292:g.172226del
  • LRG_292p1:p.Val1838Cysfs
  • NC_000017.10:g.41197775del
  • NC_000017.10:g.41197775delC
  • NC_000017.10:g.41197777del
  • NM_007294.3:c.5510delG
  • NM_007294.3:c.5512delG
  • NM_007298.3:c.2200del
  • NR_027676.2:n.5689del
  • U14680.1:n.5629delG
Protein change:
V1791fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 5629&base_change=del G; dbSNP: rs80357839
NCBI 1000 Genomes Browser:
rs80357839
Molecular consequence:
  • NM_007299.4:c.*26del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001407571.1:c.5297delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.5576delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.5576delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.5573delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.5573delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.5573delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.5570delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.5570delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.5510delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.5510delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.5510delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.5510delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.5510delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.5510delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.5510delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.5510delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.5507delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.5507delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.5507delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.5507delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.5507delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.5507delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.5507delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.5507delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.5507delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.5507delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.5507delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.5507delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.5507delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.5507delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.5507delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.5507delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.5507delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.5504delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.5504delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.5504delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.5504delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.5504delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.5504delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.5504delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.5504delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.5504delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.5504delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.5504delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.5504delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.5504delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.5504delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.5504delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.5504delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.5501delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.5501delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.5498delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.5495delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.5453delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.5450delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.5432delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.5432delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.5432delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.5432delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.5429delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.5429delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.5429delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.5426delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.5426delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.5426delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.5426delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.5426delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.5387delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.5387delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.5387delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.5387delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.5387delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.5387delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.5384delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.5384delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.5384delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.5384delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.5384delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.5384delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.5384delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.5384delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.5384delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.5384delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.5384delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.5381delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.5381delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.5381delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407684.1:c.5381delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.5381delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.5381delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.5381delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.5381delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.5381delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.5378delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.5378delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.5369delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.5369delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.5369delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.5369delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.5369delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.5369delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.5369delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.5369delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.5369delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.5369delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.5369delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.5369delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.5369delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.5369delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.5366delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.5366delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.5366delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.5366delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.5366delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.5366delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.5366delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.5366delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.5366delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.5366delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.5366delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.5366delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.5366delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.5366delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.5366delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.5366delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.5366delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.5366delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.5366delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.5366delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.5366delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.5363delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.5363delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.5363delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.5363delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.5363delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.5363delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.5363delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.5363delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.5363delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.5363delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.5363delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.5363delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.5363delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.5363delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.5363delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.5309delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.5306delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.5303delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.5303delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.5300delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.5300delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.5300delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.5300delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.5300delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.5300delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.5300delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.5300delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.5297delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.5297delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.5297delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.5297delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.5297delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.5297delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.5297delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.5297delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.5297delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.5297delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.5297delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.5297delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.5297delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.5297delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.5294delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.5294delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.5294delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.5294delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407919.1:c.5258delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.5246delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.5246delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.5246delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.5246delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.5246delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.5246delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.5246delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.5243delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.5243delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.5243delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.5243delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.5243delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.5243delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.5243delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.5240delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.5240delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.5240delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.5177delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.5177delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.5177delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.5177delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.5174delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.5174delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.5174delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.5174delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.5174delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.5174delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.5171delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.5171delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.5171delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.5129delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.5126delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.5126delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.5123delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.5048delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.5003delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.4622delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.4619delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.2906delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.2903delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.2267delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407971.1:c.2267delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407972.1:c.2264delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407973.1:c.2201delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407974.1:c.2201delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407975.1:c.2201delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407976.1:c.2201delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407977.1:c.2201delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407978.1:c.2201delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407979.1:c.2198delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407980.1:c.2198delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407981.1:c.2198delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407982.1:c.2198delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407983.1:c.2198delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407984.1:c.2198delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407985.1:c.2198delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407986.1:c.2198delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407990.1:c.2198delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407991.1:c.2198delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407992.1:c.2198delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407993.1:c.2198delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408392.1:c.2195delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408396.1:c.2195delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408397.1:c.2195delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408398.1:c.2195delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408399.1:c.2195delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408400.1:c.2195delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408401.1:c.2195delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408402.1:c.2195delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408403.1:c.2195delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408404.1:c.2195delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408406.1:c.2192delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408407.1:c.2192delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408408.1:c.2192delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408409.1:c.2189delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408410.1:c.2126delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408411.1:c.2123delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408412.1:c.2120delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408413.1:c.2120delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408414.1:c.2120delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408415.1:c.2120delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408416.1:c.2120delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408418.1:c.2084delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408419.1:c.2084delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408420.1:c.2084delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408421.1:c.2081delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408422.1:c.2081delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408423.1:c.2081delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408424.1:c.2081delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408425.1:c.2078delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408426.1:c.2078delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408427.1:c.2078delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408428.1:c.2078delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408429.1:c.2078delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408430.1:c.2078delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408431.1:c.2078delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408432.1:c.2075delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408433.1:c.2075delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408434.1:c.2075delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408435.1:c.2075delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408436.1:c.2075delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408437.1:c.2075delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408438.1:c.2075delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408439.1:c.2075delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408440.1:c.2075delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408441.1:c.2075delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408442.1:c.2075delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408443.1:c.2075delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408444.1:c.2075delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408445.1:c.2072delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408446.1:c.2072delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408447.1:c.2072delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408448.1:c.2072delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408450.1:c.2072delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408451.1:c.2066delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408452.1:c.2060delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408453.1:c.2060delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408454.1:c.2060delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408455.1:c.2060delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408456.1:c.2060delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408457.1:c.2060delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408458.1:c.2057delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408459.1:c.2057delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408460.1:c.2057delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408461.1:c.2057delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408462.1:c.2057delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408463.1:c.2057delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408464.1:c.2057delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408465.1:c.2057delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408466.1:c.2057delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408467.1:c.2057delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408468.1:c.2054delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408469.1:c.2054delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408470.1:c.2054delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408474.1:c.2000delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408475.1:c.1997delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408476.1:c.1997delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408478.1:c.1991delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408479.1:c.1991delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408480.1:c.1991delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408481.1:c.1988delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408482.1:c.1988delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408483.1:c.1988delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408484.1:c.1988delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408485.1:c.1988delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408489.1:c.1988delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408490.1:c.1988delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408491.1:c.1988delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408492.1:c.1985delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408493.1:c.1985delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408494.1:c.1961delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408495.1:c.1955delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408496.1:c.1937delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408497.1:c.1937delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408498.1:c.1937delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408499.1:c.1937delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408500.1:c.1937delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408501.1:c.1937delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408502.1:c.1934delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408503.1:c.1934delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408504.1:c.1934delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408505.1:c.1931delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408506.1:c.1874delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408507.1:c.1871delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408508.1:c.1862delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408509.1:c.1859delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408510.1:c.1820delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408511.1:c.1817delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408512.1:c.1697delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408513.1:c.1670delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408514.1:c.1274delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.5512del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.5371del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.4:c.2198delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.5575del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007304.2:c.2198delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_027676.2:n.5689del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV001578517Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Sep 1, 2018) 		germlineclinical testing

PubMed (9)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation.

Gayther SA, Warren W, Mazoyer S, Russell PA, Harrington PA, Chiano M, Seal S, Hamoudi R, van Rensburg EJ, Dunning AM, Love R, Evans G, Easton D, Clayton D, Stratton MR, Ponder BA.

Nat Genet. 1995 Dec;11(4):428-33.

PubMed [citation]
PMID:
7493024

The BRCT domain is a phospho-protein binding domain.

Yu X, Chini CC, He M, Mer G, Chen J.

Science. 2003 Oct 24;302(5645):639-42.

PubMed [citation]
PMID:
14576433
See all PubMed Citations (9)

Details of each submission

From Invitae, SCV001578517.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)

Description

This sequence change results in a premature translational stop signal in the BRCA1 gene (p.Val1838Cysfs*5). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 26 amino acids of the BRCA1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in individuals and families with breast and/or ovarian cancer (PMID: 7493024). This variant is also known as 5629delG in the literature. ClinVar contains an entry for this variant (Variation ID: 55610). This truncation is expected to partially remove the C-terminal BRCT domain of the BRCA1 protein, which is important for DNA repair activity (PMID: 14576433, 15133503). A different deleterious variant, p.Tyr1853*, located downstream of this variant has been shown to disrupt BRCA1 protein function (PMID: 8942979, 20681793, 10811118, 11256609, 17308087) and determined to be pathogenic, suggesting that although this particular variant may not result in nonsense mediated decay, it is expected to affect BRCA1 protein function. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Jun 2, 2024