U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.5368del (p.Ser1790fs) AND not provided

Germline classification:
Pathogenic (3 submissions)
Last evaluated:
May 2, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000235927.15

Allele description [Variation Report for NM_007294.4(BRCA1):c.5368del (p.Ser1790fs)]

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000293554GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Nov 19, 2015) 		germlineclinical testing

Citation Link,

SCV001133627Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Pathogenic
(May 2, 2023) 		unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV003811844Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Sep 30, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

Bhaskaran SP, Chandratre K, Gupta H, Zhang L, Wang X, Cui J, Kim YC, Sinha S, Jiang L, Lu B, Wu X, Qin Z, Huang T, Wang SM.

Int J Cancer. 2019 Aug 15;145(4):962-973. doi: 10.1002/ijc.32176. Epub 2019 Feb 13.

PubMed [citation]
PMID:
30702160
PMCID:
PMC6617753
See all PubMed Citations (5)

Details of each submission

From GeneDx, SCV000293554.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This deletion of one nucleotide in BRCA1 is denoted c.5368delT at the cDNA level and p.Ser1790LeufsX3 (S1790LfsX3) at the protein level. The normal sequence, with the base that is deleted in braces, is TGCT[T]CTGT. Using alternate nomenclature this variant would be defined as BRCA1 5487delT. The deletion causes a frameshift, which changes a Serine to a Leucine at codon 1790, and creates a premature stop codon at position 3 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001133627.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This frameshift variant alters the translational reading frame of the BRCA1 mRNA and causes the premature termination of BRCA1 protein synthesis. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been reported in an individual with ovarian cancer (PMID: 28176296 (2017)). Based on the available information, this variant is classified as pathogenic.

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

From Revvity Omics, Revvity, SCV003811844.2

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

Last Updated: Jul 15, 2024