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NM_007294.4(BRCA1):c.5368del (p.Ser1790fs) AND Hereditary breast ovarian cancer syndrome

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Nov 14, 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:
RCV001804970.11

Allele description

NM_007294.4(BRCA1):c.5368del (p.Ser1790fs)

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.5368del (p.Ser1790fs)
HGVS:
  • NC_000017.11:g.43049160del
  • NG_005905.2:g.168825del
  • NM_001407571.1:c.5154delT
  • NM_001407581.1:c.5433delT
  • NM_001407582.1:c.5433delT
  • NM_001407583.1:c.5430delT
  • NM_001407585.1:c.5430delT
  • NM_001407587.1:c.5430delT
  • NM_001407590.1:c.5427delT
  • NM_001407591.1:c.5427delT
  • NM_001407593.1:c.5367delT
  • NM_001407594.1:c.5367delT
  • NM_001407596.1:c.5367delT
  • NM_001407597.1:c.5367delT
  • NM_001407598.1:c.5367delT
  • NM_001407602.1:c.5367delT
  • NM_001407603.1:c.5367delT
  • NM_001407605.1:c.5367delT
  • NM_001407610.1:c.5364delT
  • NM_001407611.1:c.5364delT
  • NM_001407612.1:c.5364delT
  • NM_001407613.1:c.5364delT
  • NM_001407614.1:c.5364delT
  • NM_001407615.1:c.5364delT
  • NM_001407616.1:c.5364delT
  • NM_001407617.1:c.5364delT
  • NM_001407618.1:c.5364delT
  • NM_001407619.1:c.5364delT
  • NM_001407620.1:c.5364delT
  • NM_001407621.1:c.5364delT
  • NM_001407622.1:c.5364delT
  • NM_001407623.1:c.5364delT
  • NM_001407624.1:c.5364delT
  • NM_001407625.1:c.5364delT
  • NM_001407626.1:c.5364delT
  • NM_001407627.1:c.5361delT
  • NM_001407628.1:c.5361delT
  • NM_001407629.1:c.5361delT
  • NM_001407630.1:c.5361delT
  • NM_001407631.1:c.5361delT
  • NM_001407632.1:c.5361delT
  • NM_001407633.1:c.5361delT
  • NM_001407634.1:c.5361delT
  • NM_001407635.1:c.5361delT
  • NM_001407636.1:c.5361delT
  • NM_001407637.1:c.5361delT
  • NM_001407638.1:c.5361delT
  • NM_001407639.1:c.5361delT
  • NM_001407640.1:c.5361delT
  • NM_001407641.1:c.5361delT
  • NM_001407642.1:c.5361delT
  • NM_001407644.1:c.5358delT
  • NM_001407645.1:c.5358delT
  • NM_001407646.1:c.5355delT
  • NM_001407647.1:c.5352delT
  • NM_001407648.1:c.5310delT
  • NM_001407649.1:c.5307delT
  • NM_001407652.1:c.5289delT
  • NM_001407653.1:c.5289delT
  • NM_001407654.1:c.5289delT
  • NM_001407655.1:c.5289delT
  • NM_001407656.1:c.5286delT
  • NM_001407657.1:c.5286delT
  • NM_001407658.1:c.5286delT
  • NM_001407659.1:c.5283delT
  • NM_001407660.1:c.5283delT
  • NM_001407661.1:c.5283delT
  • NM_001407662.1:c.5283delT
  • NM_001407663.1:c.5283delT
  • NM_001407664.1:c.5244delT
  • NM_001407665.1:c.5244delT
  • NM_001407666.1:c.5244delT
  • NM_001407667.1:c.5244delT
  • NM_001407668.1:c.5244delT
  • NM_001407669.1:c.5244delT
  • NM_001407670.1:c.5241delT
  • NM_001407671.1:c.5241delT
  • NM_001407672.1:c.5241delT
  • NM_001407673.1:c.5241delT
  • NM_001407674.1:c.5241delT
  • NM_001407675.1:c.5241delT
  • NM_001407676.1:c.5241delT
  • NM_001407677.1:c.5241delT
  • NM_001407678.1:c.5241delT
  • NM_001407679.1:c.5241delT
  • NM_001407680.1:c.5241delT
  • NM_001407681.1:c.5238delT
  • NM_001407682.1:c.5238delT
  • NM_001407683.1:c.5238delT
  • NM_001407685.1:c.5238delT
  • NM_001407686.1:c.5238delT
  • NM_001407687.1:c.5238delT
  • NM_001407688.1:c.5238delT
  • NM_001407689.1:c.5238delT
  • NM_001407690.1:c.5235delT
  • NM_001407691.1:c.5235delT
  • NM_001407692.1:c.5226delT
  • NM_001407694.1:c.5226delT
  • NM_001407695.1:c.5226delT
  • NM_001407696.1:c.5226delT
  • NM_001407697.1:c.5226delT
  • NM_001407698.1:c.5226delT
  • NM_001407724.1:c.5226delT
  • NM_001407725.1:c.5226delT
  • NM_001407726.1:c.5226delT
  • NM_001407727.1:c.5226delT
  • NM_001407728.1:c.5226delT
  • NM_001407729.1:c.5226delT
  • NM_001407730.1:c.5226delT
  • NM_001407731.1:c.5226delT
  • NM_001407732.1:c.5223delT
  • NM_001407733.1:c.5223delT
  • NM_001407734.1:c.5223delT
  • NM_001407735.1:c.5223delT
  • NM_001407736.1:c.5223delT
  • NM_001407737.1:c.5223delT
  • NM_001407738.1:c.5223delT
  • NM_001407739.1:c.5223delT
  • NM_001407740.1:c.5223delT
  • NM_001407741.1:c.5223delT
  • NM_001407742.1:c.5223delT
  • NM_001407743.1:c.5223delT
  • NM_001407744.1:c.5223delT
  • NM_001407745.1:c.5223delT
  • NM_001407746.1:c.5223delT
  • NM_001407747.1:c.5223delT
  • NM_001407748.1:c.5223delT
  • NM_001407749.1:c.5223delT
  • NM_001407750.1:c.5223delT
  • NM_001407751.1:c.5223delT
  • NM_001407752.1:c.5223delT
  • NM_001407838.1:c.5220delT
  • NM_001407839.1:c.5220delT
  • NM_001407841.1:c.5220delT
  • NM_001407842.1:c.5220delT
  • NM_001407843.1:c.5220delT
  • NM_001407844.1:c.5220delT
  • NM_001407845.1:c.5220delT
  • NM_001407846.1:c.5220delT
  • NM_001407847.1:c.5220delT
  • NM_001407848.1:c.5220delT
  • NM_001407849.1:c.5220delT
  • NM_001407850.1:c.5220delT
  • NM_001407851.1:c.5220delT
  • NM_001407852.1:c.5220delT
  • NM_001407853.1:c.5220delT
  • NM_001407862.1:c.5166delT
  • NM_001407863.1:c.5163delT
  • NM_001407874.1:c.5160delT
  • NM_001407875.1:c.5160delT
  • NM_001407879.1:c.5157delT
  • NM_001407881.1:c.5157delT
  • NM_001407882.1:c.5157delT
  • NM_001407884.1:c.5157delT
  • NM_001407885.1:c.5157delT
  • NM_001407886.1:c.5157delT
  • NM_001407887.1:c.5157delT
  • NM_001407889.1:c.5157delT
  • NM_001407894.1:c.5154delT
  • NM_001407895.1:c.5154delT
  • NM_001407896.1:c.5154delT
  • NM_001407897.1:c.5154delT
  • NM_001407898.1:c.5154delT
  • NM_001407899.1:c.5154delT
  • NM_001407900.1:c.5154delT
  • NM_001407902.1:c.5154delT
  • NM_001407904.1:c.5154delT
  • NM_001407906.1:c.5154delT
  • NM_001407907.1:c.5154delT
  • NM_001407908.1:c.5154delT
  • NM_001407909.1:c.5154delT
  • NM_001407910.1:c.5154delT
  • NM_001407915.1:c.5151delT
  • NM_001407916.1:c.5151delT
  • NM_001407917.1:c.5151delT
  • NM_001407918.1:c.5151delT
  • NM_001407920.1:c.5103delT
  • NM_001407921.1:c.5103delT
  • NM_001407922.1:c.5103delT
  • NM_001407923.1:c.5103delT
  • NM_001407924.1:c.5103delT
  • NM_001407925.1:c.5103delT
  • NM_001407926.1:c.5103delT
  • NM_001407927.1:c.5100delT
  • NM_001407928.1:c.5100delT
  • NM_001407929.1:c.5100delT
  • NM_001407930.1:c.5100delT
  • NM_001407931.1:c.5100delT
  • NM_001407932.1:c.5100delT
  • NM_001407933.1:c.5100delT
  • NM_001407934.1:c.5097delT
  • NM_001407935.1:c.5097delT
  • NM_001407936.1:c.5097delT
  • NM_001407946.1:c.5034delT
  • NM_001407947.1:c.5034delT
  • NM_001407948.1:c.5034delT
  • NM_001407949.1:c.5034delT
  • NM_001407950.1:c.5031delT
  • NM_001407951.1:c.5031delT
  • NM_001407952.1:c.5031delT
  • NM_001407953.1:c.5031delT
  • NM_001407954.1:c.5031delT
  • NM_001407955.1:c.5031delT
  • NM_001407956.1:c.5028delT
  • NM_001407957.1:c.5028delT
  • NM_001407958.1:c.5028delT
  • NM_001407959.1:c.4986delT
  • NM_001407960.1:c.4983delT
  • NM_001407962.1:c.4983delT
  • NM_001407963.1:c.4980delT
  • NM_001407964.1:c.4905delT
  • NM_001407965.1:c.4860delT
  • NM_001407966.1:c.4479delT
  • NM_001407967.1:c.4476delT
  • NM_001407968.1:c.2763delT
  • NM_001407969.1:c.2760delT
  • NM_001407970.1:c.2124delT
  • NM_001407971.1:c.2124delT
  • NM_001407972.1:c.2121delT
  • NM_001407973.1:c.2058delT
  • NM_001407974.1:c.2058delT
  • NM_001407975.1:c.2058delT
  • NM_001407976.1:c.2058delT
  • NM_001407977.1:c.2058delT
  • NM_001407978.1:c.2058delT
  • NM_001407979.1:c.2055delT
  • NM_001407980.1:c.2055delT
  • NM_001407981.1:c.2055delT
  • NM_001407982.1:c.2055delT
  • NM_001407983.1:c.2055delT
  • NM_001407984.1:c.2055delT
  • NM_001407985.1:c.2055delT
  • NM_001407986.1:c.2055delT
  • NM_001407990.1:c.2055delT
  • NM_001407991.1:c.2055delT
  • NM_001407992.1:c.2055delT
  • NM_001407993.1:c.2055delT
  • NM_001408392.1:c.2052delT
  • NM_001408396.1:c.2052delT
  • NM_001408397.1:c.2052delT
  • NM_001408398.1:c.2052delT
  • NM_001408399.1:c.2052delT
  • NM_001408400.1:c.2052delT
  • NM_001408401.1:c.2052delT
  • NM_001408402.1:c.2052delT
  • NM_001408403.1:c.2052delT
  • NM_001408404.1:c.2052delT
  • NM_001408406.1:c.2049delT
  • NM_001408407.1:c.2049delT
  • NM_001408408.1:c.2049delT
  • NM_001408409.1:c.2046delT
  • NM_001408410.1:c.1983delT
  • NM_001408411.1:c.1980delT
  • NM_001408412.1:c.1977delT
  • NM_001408413.1:c.1977delT
  • NM_001408414.1:c.1977delT
  • NM_001408415.1:c.1977delT
  • NM_001408416.1:c.1977delT
  • NM_001408418.1:c.1941delT
  • NM_001408419.1:c.1941delT
  • NM_001408420.1:c.1941delT
  • NM_001408421.1:c.1938delT
  • NM_001408422.1:c.1938delT
  • NM_001408423.1:c.1938delT
  • NM_001408424.1:c.1938delT
  • NM_001408425.1:c.1935delT
  • NM_001408426.1:c.1935delT
  • NM_001408427.1:c.1935delT
  • NM_001408428.1:c.1935delT
  • NM_001408429.1:c.1935delT
  • NM_001408430.1:c.1935delT
  • NM_001408431.1:c.1935delT
  • NM_001408432.1:c.1932delT
  • NM_001408433.1:c.1932delT
  • NM_001408434.1:c.1932delT
  • NM_001408435.1:c.1932delT
  • NM_001408436.1:c.1932delT
  • NM_001408437.1:c.1932delT
  • NM_001408438.1:c.1932delT
  • NM_001408439.1:c.1932delT
  • NM_001408440.1:c.1932delT
  • NM_001408441.1:c.1932delT
  • NM_001408442.1:c.1932delT
  • NM_001408443.1:c.1932delT
  • NM_001408444.1:c.1932delT
  • NM_001408445.1:c.1929delT
  • NM_001408446.1:c.1929delT
  • NM_001408447.1:c.1929delT
  • NM_001408448.1:c.1929delT
  • NM_001408450.1:c.1929delT
  • NM_001408451.1:c.1923delT
  • NM_001408452.1:c.1917delT
  • NM_001408453.1:c.1917delT
  • NM_001408454.1:c.1917delT
  • NM_001408455.1:c.1917delT
  • NM_001408456.1:c.1917delT
  • NM_001408457.1:c.1917delT
  • NM_001408458.1:c.1914delT
  • NM_001408459.1:c.1914delT
  • NM_001408460.1:c.1914delT
  • NM_001408461.1:c.1914delT
  • NM_001408462.1:c.1914delT
  • NM_001408463.1:c.1914delT
  • NM_001408464.1:c.1914delT
  • NM_001408465.1:c.1914delT
  • NM_001408466.1:c.1914delT
  • NM_001408467.1:c.1914delT
  • NM_001408468.1:c.1911delT
  • NM_001408469.1:c.1911delT
  • NM_001408470.1:c.1911delT
  • NM_001408474.1:c.1857delT
  • NM_001408475.1:c.1854delT
  • NM_001408476.1:c.1854delT
  • NM_001408478.1:c.1848delT
  • NM_001408479.1:c.1848delT
  • NM_001408480.1:c.1848delT
  • NM_001408481.1:c.1845delT
  • NM_001408482.1:c.1845delT
  • NM_001408483.1:c.1845delT
  • NM_001408484.1:c.1845delT
  • NM_001408485.1:c.1845delT
  • NM_001408489.1:c.1845delT
  • NM_001408490.1:c.1845delT
  • NM_001408491.1:c.1845delT
  • NM_001408492.1:c.1842delT
  • NM_001408493.1:c.1842delT
  • NM_001408494.1:c.1818delT
  • NM_001408495.1:c.1812delT
  • NM_001408496.1:c.1794delT
  • NM_001408497.1:c.1794delT
  • NM_001408498.1:c.1794delT
  • NM_001408499.1:c.1794delT
  • NM_001408500.1:c.1794delT
  • NM_001408501.1:c.1794delT
  • NM_001408502.1:c.1791delT
  • NM_001408503.1:c.1791delT
  • NM_001408504.1:c.1791delT
  • NM_001408505.1:c.1788delT
  • NM_001408506.1:c.1731delT
  • NM_001408507.1:c.1728delT
  • NM_001408508.1:c.1719delT
  • NM_001408509.1:c.1716delT
  • NM_001408510.1:c.1677delT
  • NM_001408511.1:c.1674delT
  • NM_001408512.1:c.1554delT
  • NM_001408513.1:c.1527delT
  • NM_001408514.1:c.1131delT
  • NM_007294.4:c.5368delMANE SELECT
  • NM_007297.4:c.5227del
  • NM_007298.4:c.2055delT
  • NM_007299.4:c.2021-1456del
  • NM_007300.4:c.5431del
  • NM_007304.2:c.2055delT
  • NP_001394500.1:p.Ser1719Leufs
  • NP_001394510.1:p.Ser1812Leufs
  • NP_001394511.1:p.Ser1812Leufs
  • NP_001394512.1:p.Ser1811Leufs
  • NP_001394514.1:p.Ser1811Leufs
  • NP_001394516.1:p.Ser1811Leufs
  • NP_001394519.1:p.Ser1810Leufs
  • NP_001394520.1:p.Ser1810Leufs
  • NP_001394522.1:p.Ser1790Leufs
  • NP_001394523.1:p.Ser1790Leufs
  • NP_001394525.1:p.Ser1790Leufs
  • NP_001394526.1:p.Ser1790Leufs
  • NP_001394527.1:p.Ser1790Leufs
  • NP_001394531.1:p.Ser1790Leufs
  • NP_001394532.1:p.Ser1790Leufs
  • NP_001394534.1:p.Ser1790Leufs
  • NP_001394539.1:p.Ser1789Leufs
  • NP_001394540.1:p.Ser1789Leufs
  • NP_001394541.1:p.Ser1789Leufs
  • NP_001394542.1:p.Ser1789Leufs
  • NP_001394543.1:p.Ser1789Leufs
  • NP_001394544.1:p.Ser1789Leufs
  • NP_001394545.1:p.Ser1789Leufs
  • NP_001394546.1:p.Ser1789Leufs
  • NP_001394547.1:p.Ser1789Leufs
  • NP_001394548.1:p.Ser1789Leufs
  • NP_001394549.1:p.Ser1789Leufs
  • NP_001394550.1:p.Ser1789Leufs
  • NP_001394551.1:p.Ser1789Leufs
  • NP_001394552.1:p.Ser1789Leufs
  • NP_001394553.1:p.Ser1789Leufs
  • NP_001394554.1:p.Ser1789Leufs
  • NP_001394555.1:p.Ser1789Leufs
  • NP_001394556.1:p.Ser1788Leufs
  • NP_001394557.1:p.Ser1788Leufs
  • NP_001394558.1:p.Ser1788Leufs
  • NP_001394559.1:p.Ser1788Leufs
  • NP_001394560.1:p.Ser1788Leufs
  • NP_001394561.1:p.Ser1788Leufs
  • NP_001394562.1:p.Ser1788Leufs
  • NP_001394563.1:p.Ser1788Leufs
  • NP_001394564.1:p.Ser1788Leufs
  • NP_001394565.1:p.Ser1788Leufs
  • NP_001394566.1:p.Ser1788Leufs
  • NP_001394567.1:p.Ser1788Leufs
  • NP_001394568.1:p.Ser1788Leufs
  • NP_001394569.1:p.Ser1788Leufs
  • NP_001394570.1:p.Ser1788Leufs
  • NP_001394571.1:p.Ser1788Leufs
  • NP_001394573.1:p.Ser1787Leufs
  • NP_001394574.1:p.Ser1787Leufs
  • NP_001394575.1:p.Ser1786Leufs
  • NP_001394576.1:p.Ser1785Leufs
  • NP_001394577.1:p.Ser1771Leufs
  • NP_001394578.1:p.Ser1770Leufs
  • NP_001394581.1:p.Ser1764Leufs
  • NP_001394582.1:p.Ser1764Leufs
  • NP_001394583.1:p.Ser1764Leufs
  • NP_001394584.1:p.Ser1764Leufs
  • NP_001394585.1:p.Ser1763Leufs
  • NP_001394586.1:p.Ser1763Leufs
  • NP_001394587.1:p.Ser1763Leufs
  • NP_001394588.1:p.Ser1762Leufs
  • NP_001394589.1:p.Ser1762Leufs
  • NP_001394590.1:p.Ser1762Leufs
  • NP_001394591.1:p.Ser1762Leufs
  • NP_001394592.1:p.Ser1762Leufs
  • NP_001394593.1:p.Ser1749Leufs
  • NP_001394594.1:p.Ser1749Leufs
  • NP_001394595.1:p.Ser1749Leufs
  • NP_001394596.1:p.Ser1749Leufs
  • NP_001394597.1:p.Ser1749Leufs
  • NP_001394598.1:p.Ser1749Leufs
  • NP_001394599.1:p.Ser1748Leufs
  • NP_001394600.1:p.Ser1748Leufs
  • NP_001394601.1:p.Ser1748Leufs
  • NP_001394602.1:p.Ser1748Leufs
  • NP_001394603.1:p.Ser1748Leufs
  • NP_001394604.1:p.Ser1748Leufs
  • NP_001394605.1:p.Ser1748Leufs
  • NP_001394606.1:p.Ser1748Leufs
  • NP_001394607.1:p.Ser1748Leufs
  • NP_001394608.1:p.Ser1748Leufs
  • NP_001394609.1:p.Ser1748Leufs
  • NP_001394610.1:p.Ser1747Leufs
  • NP_001394611.1:p.Ser1747Leufs
  • NP_001394612.1:p.Ser1747Leufs
  • NP_001394614.1:p.Ser1747Leufs
  • NP_001394615.1:p.Ser1747Leufs
  • NP_001394616.1:p.Ser1747Leufs
  • NP_001394617.1:p.Ser1747Leufs
  • NP_001394618.1:p.Ser1747Leufs
  • NP_001394619.1:p.Ser1746Leufs
  • NP_001394620.1:p.Ser1746Leufs
  • NP_001394621.1:p.Ser1743Leufs
  • NP_001394623.1:p.Ser1743Leufs
  • NP_001394624.1:p.Ser1743Leufs
  • NP_001394625.1:p.Ser1743Leufs
  • NP_001394626.1:p.Ser1743Leufs
  • NP_001394627.1:p.Ser1743Leufs
  • NP_001394653.1:p.Ser1743Leufs
  • NP_001394654.1:p.Ser1743Leufs
  • NP_001394655.1:p.Ser1743Leufs
  • NP_001394656.1:p.Ser1743Leufs
  • NP_001394657.1:p.Ser1743Leufs
  • NP_001394658.1:p.Ser1743Leufs
  • NP_001394659.1:p.Ser1743Leufs
  • NP_001394660.1:p.Ser1743Leufs
  • NP_001394661.1:p.Ser1742Leufs
  • NP_001394662.1:p.Ser1742Leufs
  • NP_001394663.1:p.Ser1742Leufs
  • NP_001394664.1:p.Ser1742Leufs
  • NP_001394665.1:p.Ser1742Leufs
  • NP_001394666.1:p.Ser1742Leufs
  • NP_001394667.1:p.Ser1742Leufs
  • NP_001394668.1:p.Ser1742Leufs
  • NP_001394669.1:p.Ser1742Leufs
  • NP_001394670.1:p.Ser1742Leufs
  • NP_001394671.1:p.Ser1742Leufs
  • NP_001394672.1:p.Ser1742Leufs
  • NP_001394673.1:p.Ser1742Leufs
  • NP_001394674.1:p.Ser1742Leufs
  • NP_001394675.1:p.Ser1742Leufs
  • NP_001394676.1:p.Ser1742Leufs
  • NP_001394677.1:p.Ser1742Leufs
  • NP_001394678.1:p.Ser1742Leufs
  • NP_001394679.1:p.Ser1742Leufs
  • NP_001394680.1:p.Ser1742Leufs
  • NP_001394681.1:p.Ser1742Leufs
  • NP_001394767.1:p.Ser1741Leufs
  • NP_001394768.1:p.Ser1741Leufs
  • NP_001394770.1:p.Ser1741Leufs
  • NP_001394771.1:p.Ser1741Leufs
  • NP_001394772.1:p.Ser1741Leufs
  • NP_001394773.1:p.Ser1741Leufs
  • NP_001394774.1:p.Ser1741Leufs
  • NP_001394775.1:p.Ser1741Leufs
  • NP_001394776.1:p.Ser1741Leufs
  • NP_001394777.1:p.Ser1741Leufs
  • NP_001394778.1:p.Ser1741Leufs
  • NP_001394779.1:p.Ser1741Leufs
  • NP_001394780.1:p.Ser1741Leufs
  • NP_001394781.1:p.Ser1741Leufs
  • NP_001394782.1:p.Ser1741Leufs
  • NP_001394791.1:p.Ser1723Leufs
  • NP_001394792.1:p.Ser1722Leufs
  • NP_001394803.1:p.Ser1721Leufs
  • NP_001394804.1:p.Ser1721Leufs
  • NP_001394808.1:p.Ser1720Leufs
  • NP_001394810.1:p.Ser1720Leufs
  • NP_001394811.1:p.Ser1720Leufs
  • NP_001394813.1:p.Ser1720Leufs
  • NP_001394814.1:p.Ser1720Leufs
  • NP_001394815.1:p.Ser1720Leufs
  • NP_001394816.1:p.Ser1720Leufs
  • NP_001394818.1:p.Ser1720Leufs
  • NP_001394823.1:p.Ser1719Leufs
  • NP_001394824.1:p.Ser1719Leufs
  • NP_001394825.1:p.Ser1719Leufs
  • NP_001394826.1:p.Ser1719Leufs
  • NP_001394827.1:p.Ser1719Leufs
  • NP_001394828.1:p.Ser1719Leufs
  • NP_001394829.1:p.Ser1719Leufs
  • NP_001394831.1:p.Ser1719Leufs
  • NP_001394833.1:p.Ser1719Leufs
  • NP_001394835.1:p.Ser1719Leufs
  • NP_001394836.1:p.Ser1719Leufs
  • NP_001394837.1:p.Ser1719Leufs
  • NP_001394838.1:p.Ser1719Leufs
  • NP_001394839.1:p.Ser1719Leufs
  • NP_001394844.1:p.Ser1718Leufs
  • NP_001394845.1:p.Ser1718Leufs
  • NP_001394846.1:p.Ser1718Leufs
  • NP_001394847.1:p.Ser1718Leufs
  • NP_001394849.1:p.Ser1702Leufs
  • NP_001394850.1:p.Ser1702Leufs
  • NP_001394851.1:p.Ser1702Leufs
  • NP_001394852.1:p.Ser1702Leufs
  • NP_001394853.1:p.Ser1702Leufs
  • NP_001394854.1:p.Ser1702Leufs
  • NP_001394855.1:p.Ser1702Leufs
  • NP_001394856.1:p.Ser1701Leufs
  • NP_001394857.1:p.Ser1701Leufs
  • NP_001394858.1:p.Ser1701Leufs
  • NP_001394859.1:p.Ser1701Leufs
  • NP_001394860.1:p.Ser1701Leufs
  • NP_001394861.1:p.Ser1701Leufs
  • NP_001394862.1:p.Ser1701Leufs
  • NP_001394863.1:p.Ser1700Leufs
  • NP_001394864.1:p.Ser1700Leufs
  • NP_001394865.1:p.Ser1700Leufs
  • NP_001394875.1:p.Ser1679Leufs
  • NP_001394876.1:p.Ser1679Leufs
  • NP_001394877.1:p.Ser1679Leufs
  • NP_001394878.1:p.Ser1679Leufs
  • NP_001394879.1:p.Ser1678Leufs
  • NP_001394880.1:p.Ser1678Leufs
  • NP_001394881.1:p.Ser1678Leufs
  • NP_001394882.1:p.Ser1678Leufs
  • NP_001394883.1:p.Ser1678Leufs
  • NP_001394884.1:p.Ser1678Leufs
  • NP_001394885.1:p.Ser1677Leufs
  • NP_001394886.1:p.Ser1677Leufs
  • NP_001394887.1:p.Ser1677Leufs
  • NP_001394888.1:p.Ser1663Leufs
  • NP_001394889.1:p.Ser1662Leufs
  • NP_001394891.1:p.Ser1662Leufs
  • NP_001394892.1:p.Ser1661Leufs
  • NP_001394893.1:p.Ser1636Leufs
  • NP_001394894.1:p.Ser1621Leufs
  • NP_001394895.1:p.Ser1494Leufs
  • NP_001394896.1:p.Ser1493Leufs
  • NP_001394897.1:p.Ser922Leufs
  • NP_001394898.1:p.Ser921Leufs
  • NP_001394899.1:p.Ser709Leufs
  • NP_001394900.1:p.Ser709Leufs
  • NP_001394901.1:p.Ser708Leufs
  • NP_001394902.1:p.Ser687Leufs
  • NP_001394903.1:p.Ser687Leufs
  • NP_001394904.1:p.Ser687Leufs
  • NP_001394905.1:p.Ser687Leufs
  • NP_001394906.1:p.Ser687Leufs
  • NP_001394907.1:p.Ser687Leufs
  • NP_001394908.1:p.Ser686Leufs
  • NP_001394909.1:p.Ser686Leufs
  • NP_001394910.1:p.Ser686Leufs
  • NP_001394911.1:p.Ser686Leufs
  • NP_001394912.1:p.Ser686Leufs
  • NP_001394913.1:p.Ser686Leufs
  • NP_001394914.1:p.Ser686Leufs
  • NP_001394915.1:p.Ser686Leufs
  • NP_001394919.1:p.Ser686Leufs
  • NP_001394920.1:p.Ser686Leufs
  • NP_001394921.1:p.Ser686Leufs
  • NP_001394922.1:p.Ser686Leufs
  • NP_001395321.1:p.Ser685Leufs
  • NP_001395325.1:p.Ser685Leufs
  • NP_001395326.1:p.Ser685Leufs
  • NP_001395327.1:p.Ser685Leufs
  • NP_001395328.1:p.Ser685Leufs
  • NP_001395329.1:p.Ser685Leufs
  • NP_001395330.1:p.Ser685Leufs
  • NP_001395331.1:p.Ser685Leufs
  • NP_001395332.1:p.Ser685Leufs
  • NP_001395333.1:p.Ser685Leufs
  • NP_001395335.1:p.Ser684Leufs
  • NP_001395336.1:p.Ser684Leufs
  • NP_001395337.1:p.Ser684Leufs
  • NP_001395338.1:p.Ser683Leufs
  • NP_001395339.1:p.Ser662Leufs
  • NP_001395340.1:p.Ser661Leufs
  • NP_001395341.1:p.Ser660Leufs
  • NP_001395342.1:p.Ser660Leufs
  • NP_001395343.1:p.Ser660Leufs
  • NP_001395344.1:p.Ser660Leufs
  • NP_001395345.1:p.Ser660Leufs
  • NP_001395347.1:p.Ser648Leufs
  • NP_001395348.1:p.Ser648Leufs
  • NP_001395349.1:p.Ser648Leufs
  • NP_001395350.1:p.Ser647Leufs
  • NP_001395351.1:p.Ser647Leufs
  • NP_001395352.1:p.Ser647Leufs
  • NP_001395353.1:p.Ser647Leufs
  • NP_001395354.1:p.Ser646Leufs
  • NP_001395355.1:p.Ser646Leufs
  • NP_001395356.1:p.Ser646Leufs
  • NP_001395357.1:p.Ser646Leufs
  • NP_001395358.1:p.Ser646Leufs
  • NP_001395359.1:p.Ser646Leufs
  • NP_001395360.1:p.Ser646Leufs
  • NP_001395361.1:p.Ser645Leufs
  • NP_001395362.1:p.Ser645Leufs
  • NP_001395363.1:p.Ser645Leufs
  • NP_001395364.1:p.Ser645Leufs
  • NP_001395365.1:p.Ser645Leufs
  • NP_001395366.1:p.Ser645Leufs
  • NP_001395367.1:p.Ser645Leufs
  • NP_001395368.1:p.Ser645Leufs
  • NP_001395369.1:p.Ser645Leufs
  • NP_001395370.1:p.Ser645Leufs
  • NP_001395371.1:p.Ser645Leufs
  • NP_001395372.1:p.Ser645Leufs
  • NP_001395373.1:p.Ser645Leufs
  • NP_001395374.1:p.Ser644Leufs
  • NP_001395375.1:p.Ser644Leufs
  • NP_001395376.1:p.Ser644Leufs
  • NP_001395377.1:p.Ser644Leufs
  • NP_001395379.1:p.Ser644Leufs
  • NP_001395380.1:p.Ser642Leufs
  • NP_001395381.1:p.Ser640Leufs
  • NP_001395382.1:p.Ser640Leufs
  • NP_001395383.1:p.Ser640Leufs
  • NP_001395384.1:p.Ser640Leufs
  • NP_001395385.1:p.Ser640Leufs
  • NP_001395386.1:p.Ser640Leufs
  • NP_001395387.1:p.Ser639Leufs
  • NP_001395388.1:p.Ser639Leufs
  • NP_001395389.1:p.Ser639Leufs
  • NP_001395390.1:p.Ser639Leufs
  • NP_001395391.1:p.Ser639Leufs
  • NP_001395392.1:p.Ser639Leufs
  • NP_001395393.1:p.Ser639Leufs
  • NP_001395394.1:p.Ser639Leufs
  • NP_001395395.1:p.Ser639Leufs
  • NP_001395396.1:p.Ser639Leufs
  • NP_001395397.1:p.Ser638Leufs
  • NP_001395398.1:p.Ser638Leufs
  • NP_001395399.1:p.Ser638Leufs
  • NP_001395403.1:p.Ser620Leufs
  • NP_001395404.1:p.Ser619Leufs
  • NP_001395405.1:p.Ser619Leufs
  • NP_001395407.1:p.Ser617Leufs
  • NP_001395408.1:p.Ser617Leufs
  • NP_001395409.1:p.Ser617Leufs
  • NP_001395410.1:p.Ser616Leufs
  • NP_001395411.1:p.Ser616Leufs
  • NP_001395412.1:p.Ser616Leufs
  • NP_001395413.1:p.Ser616Leufs
  • NP_001395414.1:p.Ser616Leufs
  • NP_001395418.1:p.Ser616Leufs
  • NP_001395419.1:p.Ser616Leufs
  • NP_001395420.1:p.Ser616Leufs
  • NP_001395421.1:p.Ser615Leufs
  • NP_001395422.1:p.Ser615Leufs
  • NP_001395423.1:p.Ser607Leufs
  • NP_001395424.1:p.Ser605Leufs
  • NP_001395425.1:p.Ser599Leufs
  • NP_001395426.1:p.Ser599Leufs
  • NP_001395427.1:p.Ser599Leufs
  • NP_001395428.1:p.Ser599Leufs
  • NP_001395429.1:p.Ser599Leufs
  • NP_001395430.1:p.Ser599Leufs
  • NP_001395431.1:p.Ser598Leufs
  • NP_001395432.1:p.Ser598Leufs
  • NP_001395433.1:p.Ser598Leufs
  • NP_001395434.1:p.Ser597Leufs
  • NP_001395435.1:p.Ser578Leufs
  • NP_001395436.1:p.Ser577Leufs
  • NP_001395437.1:p.Ser574Leufs
  • NP_001395438.1:p.Ser573Leufs
  • NP_001395439.1:p.Ser560Leufs
  • NP_001395440.1:p.Ser559Leufs
  • NP_001395441.1:p.Ser519Leufs
  • NP_001395442.1:p.Ser510Leufs
  • NP_001395443.1:p.Ser378Leufs
  • NP_009225.1:p.Ser1790Leufs
  • NP_009225.1:p.Ser1790fs
  • NP_009225.1:p.Ser1790fs
  • NP_009228.2:p.Ser1743fs
  • NP_009229.2:p.Ser686Leufs
  • NP_009229.2:p.Ser686fs
  • NP_009231.2:p.Ser1811fs
  • NP_009235.2:p.Ser686Leufs
  • LRG_292t1:c.5368del
  • LRG_292:g.168825del
  • LRG_292p1:p.Ser1790fs
  • NC_000017.10:g.41201176del
  • NC_000017.10:g.41201177del
  • NM_007294.3:c.5367delT
  • NM_007294.3:c.5368del
  • NM_007294.3:c.5368delT
  • NM_007298.3:c.2056del
  • NR_027676.2:n.5545del
  • p.(Ser1790LeufsTer3)
Protein change:
S1743fs
Links:
dbSNP: rs879254116
NCBI 1000 Genomes Browser:
rs879254116
Molecular consequence:
  • NM_001407571.1:c.5154delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407581.1:c.5433delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407582.1:c.5433delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407583.1:c.5430delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407585.1:c.5430delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407587.1:c.5430delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407590.1:c.5427delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407591.1:c.5427delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407593.1:c.5367delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407594.1:c.5367delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407596.1:c.5367delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407597.1:c.5367delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407598.1:c.5367delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407602.1:c.5367delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407603.1:c.5367delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407605.1:c.5367delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407610.1:c.5364delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407611.1:c.5364delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407612.1:c.5364delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407613.1:c.5364delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407614.1:c.5364delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407615.1:c.5364delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407616.1:c.5364delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407617.1:c.5364delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407618.1:c.5364delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407619.1:c.5364delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407620.1:c.5364delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407621.1:c.5364delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407622.1:c.5364delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407623.1:c.5364delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407624.1:c.5364delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407625.1:c.5364delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407626.1:c.5364delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407627.1:c.5361delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407628.1:c.5361delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407629.1:c.5361delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407630.1:c.5361delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407631.1:c.5361delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407632.1:c.5361delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407633.1:c.5361delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407634.1:c.5361delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407635.1:c.5361delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407636.1:c.5361delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407637.1:c.5361delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407638.1:c.5361delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407639.1:c.5361delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407640.1:c.5361delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407641.1:c.5361delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407642.1:c.5361delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407644.1:c.5358delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407645.1:c.5358delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407646.1:c.5355delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407647.1:c.5352delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407648.1:c.5310delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407649.1:c.5307delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407652.1:c.5289delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407653.1:c.5289delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407654.1:c.5289delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407655.1:c.5289delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407656.1:c.5286delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407657.1:c.5286delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407658.1:c.5286delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407659.1:c.5283delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407660.1:c.5283delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407661.1:c.5283delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407662.1:c.5283delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407663.1:c.5283delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407664.1:c.5244delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407665.1:c.5244delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407666.1:c.5244delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407667.1:c.5244delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407668.1:c.5244delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407669.1:c.5244delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407670.1:c.5241delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407671.1:c.5241delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407672.1:c.5241delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407673.1:c.5241delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407674.1:c.5241delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407675.1:c.5241delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407676.1:c.5241delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407677.1:c.5241delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407678.1:c.5241delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407679.1:c.5241delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407680.1:c.5241delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407681.1:c.5238delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407682.1:c.5238delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407683.1:c.5238delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407685.1:c.5238delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407686.1:c.5238delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407687.1:c.5238delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407688.1:c.5238delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407689.1:c.5238delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407690.1:c.5235delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407691.1:c.5235delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407692.1:c.5226delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407694.1:c.5226delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407695.1:c.5226delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407696.1:c.5226delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407697.1:c.5226delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407698.1:c.5226delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407724.1:c.5226delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407725.1:c.5226delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407726.1:c.5226delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407727.1:c.5226delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407728.1:c.5226delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407729.1:c.5226delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407730.1:c.5226delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407731.1:c.5226delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407732.1:c.5223delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407733.1:c.5223delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407734.1:c.5223delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407735.1:c.5223delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407736.1:c.5223delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407737.1:c.5223delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407738.1:c.5223delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407739.1:c.5223delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407740.1:c.5223delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407741.1:c.5223delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407742.1:c.5223delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407743.1:c.5223delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407744.1:c.5223delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407745.1:c.5223delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407746.1:c.5223delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407747.1:c.5223delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407748.1:c.5223delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407749.1:c.5223delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407750.1:c.5223delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407751.1:c.5223delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407752.1:c.5223delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407838.1:c.5220delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407839.1:c.5220delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407841.1:c.5220delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407842.1:c.5220delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407843.1:c.5220delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407844.1:c.5220delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407845.1:c.5220delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407846.1:c.5220delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407847.1:c.5220delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407848.1:c.5220delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407849.1:c.5220delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407850.1:c.5220delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407851.1:c.5220delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407852.1:c.5220delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407853.1:c.5220delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407862.1:c.5166delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407863.1:c.5163delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407874.1:c.5160delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407875.1:c.5160delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407879.1:c.5157delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407881.1:c.5157delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407882.1:c.5157delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407884.1:c.5157delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407885.1:c.5157delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407886.1:c.5157delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407887.1:c.5157delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407889.1:c.5157delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407894.1:c.5154delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407895.1:c.5154delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407896.1:c.5154delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407897.1:c.5154delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407898.1:c.5154delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407899.1:c.5154delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407900.1:c.5154delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407902.1:c.5154delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407904.1:c.5154delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407906.1:c.5154delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407907.1:c.5154delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407908.1:c.5154delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407909.1:c.5154delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407910.1:c.5154delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407915.1:c.5151delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407916.1:c.5151delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407917.1:c.5151delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407918.1:c.5151delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407920.1:c.5103delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407921.1:c.5103delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407922.1:c.5103delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407923.1:c.5103delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407924.1:c.5103delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407925.1:c.5103delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407926.1:c.5103delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407927.1:c.5100delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407928.1:c.5100delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407929.1:c.5100delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407930.1:c.5100delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407931.1:c.5100delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407932.1:c.5100delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407933.1:c.5100delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407934.1:c.5097delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407935.1:c.5097delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407936.1:c.5097delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407946.1:c.5034delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407947.1:c.5034delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407948.1:c.5034delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407949.1:c.5034delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407950.1:c.5031delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407951.1:c.5031delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407952.1:c.5031delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407953.1:c.5031delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407954.1:c.5031delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407955.1:c.5031delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407956.1:c.5028delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407957.1:c.5028delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407958.1:c.5028delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407959.1:c.4986delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407960.1:c.4983delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407962.1:c.4983delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407963.1:c.4980delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407964.1:c.4905delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407965.1:c.4860delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407966.1:c.4479delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407967.1:c.4476delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407968.1:c.2763delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407969.1:c.2760delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407970.1:c.2124delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407971.1:c.2124delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407972.1:c.2121delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407973.1:c.2058delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407974.1:c.2058delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407975.1:c.2058delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407976.1:c.2058delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407977.1:c.2058delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407978.1:c.2058delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407979.1:c.2055delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407980.1:c.2055delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407981.1:c.2055delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407982.1:c.2055delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407983.1:c.2055delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407984.1:c.2055delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407985.1:c.2055delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407986.1:c.2055delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407990.1:c.2055delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407991.1:c.2055delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407992.1:c.2055delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407993.1:c.2055delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408392.1:c.2052delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408396.1:c.2052delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408397.1:c.2052delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408398.1:c.2052delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408399.1:c.2052delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408400.1:c.2052delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408401.1:c.2052delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408402.1:c.2052delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408403.1:c.2052delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408404.1:c.2052delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408406.1:c.2049delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408407.1:c.2049delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408408.1:c.2049delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408409.1:c.2046delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408410.1:c.1983delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408411.1:c.1980delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408412.1:c.1977delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408413.1:c.1977delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408414.1:c.1977delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408415.1:c.1977delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408416.1:c.1977delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408418.1:c.1941delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408419.1:c.1941delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408420.1:c.1941delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408421.1:c.1938delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408422.1:c.1938delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408423.1:c.1938delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408424.1:c.1938delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408425.1:c.1935delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408426.1:c.1935delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408427.1:c.1935delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408428.1:c.1935delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408429.1:c.1935delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408430.1:c.1935delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408431.1:c.1935delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408432.1:c.1932delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408433.1:c.1932delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408434.1:c.1932delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408435.1:c.1932delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408436.1:c.1932delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408437.1:c.1932delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408438.1:c.1932delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408439.1:c.1932delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408440.1:c.1932delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408441.1:c.1932delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408442.1:c.1932delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408443.1:c.1932delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408444.1:c.1932delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408445.1:c.1929delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408446.1:c.1929delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408447.1:c.1929delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408448.1:c.1929delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408450.1:c.1929delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408451.1:c.1923delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408452.1:c.1917delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408453.1:c.1917delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408454.1:c.1917delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408455.1:c.1917delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408456.1:c.1917delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408457.1:c.1917delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408458.1:c.1914delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408459.1:c.1914delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408460.1:c.1914delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408461.1:c.1914delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408462.1:c.1914delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408463.1:c.1914delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408464.1:c.1914delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408465.1:c.1914delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408466.1:c.1914delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408467.1:c.1914delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408468.1:c.1911delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408469.1:c.1911delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408470.1:c.1911delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408474.1:c.1857delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408475.1:c.1854delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408476.1:c.1854delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408478.1:c.1848delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408479.1:c.1848delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408480.1:c.1848delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408481.1:c.1845delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408482.1:c.1845delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408483.1:c.1845delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408484.1:c.1845delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408485.1:c.1845delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408489.1:c.1845delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408490.1:c.1845delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408491.1:c.1845delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408492.1:c.1842delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408493.1:c.1842delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408494.1:c.1818delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408495.1:c.1812delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408496.1:c.1794delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408497.1:c.1794delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408498.1:c.1794delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408499.1:c.1794delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408500.1:c.1794delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408501.1:c.1794delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408502.1:c.1791delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408503.1:c.1791delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408504.1:c.1791delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408505.1:c.1788delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408506.1:c.1731delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408507.1:c.1728delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408508.1:c.1719delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408509.1:c.1716delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408510.1:c.1677delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408511.1:c.1674delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408512.1:c.1554delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408513.1:c.1527delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001408514.1:c.1131delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007294.4:c.5368del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.5227del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007298.4:c.2055delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.5431del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007304.2:c.2055delT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007299.4:c.2021-1456del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.2:n.5545del - 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
SCV002051090Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Pathogenic
(Dec 13, 2021) 		germlineclinical testing

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

Citation Link,

SCV003461787Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Nov 14, 2022) 		germlineclinical testing

PubMed (3)
[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

BRCA1 and BRCA2 mutations in ovarian cancer patients from China: ethnic-related mutations in BRCA1 associated with an increased risk of ovarian cancer.

Shi T, Wang P, Xie C, Yin S, Shi D, Wei C, Tang W, Jiang R, Cheng X, Wei Q, Wang Q, Zang R.

Int J Cancer. 2017 May 1;140(9):2051-2059. doi: 10.1002/ijc.30633. Epub 2017 Feb 23.

PubMed [citation]
PMID:
28176296

Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients.

Gao X, Nan X, Liu Y, Liu R, Zang W, Shan G, Gai F, Zhang J, Li L, Cheng G, Song L.

Hum Mutat. 2020 Mar;41(3):696-708. doi: 10.1002/humu.23965. Epub 2019 Dec 24.

PubMed [citation]
PMID:
31825140
See all PubMed Citations (5)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002051090.1

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

Description

Variant summary: BRCA1 c.5368delT (p.Ser1790LeufsX3) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251446 control chromosomes (gnomAD). c.5368delT has been reported in the literature in an individual affected with ovarian cancer (Shi_2017). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three ClinVar submitters have assessed the variant since 2014, including one expert panel (ENIGMA), and all submitters have classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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

From Invitae, SCV003461787.2

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

Description

This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 246134). This premature translational stop signal has been observed in individual(s) with hereditary breast and/or ovarian cancer (PMID: 30702160). This sequence change creates a premature translational stop signal (p.Ser1790Leufs*3) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584).

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

Last Updated: Sep 16, 2024