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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000293554	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Nov 19, 2015)	germline	clinical testing	Citation Link,
SCV001133627	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (May 2, 2023)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 28176296, 30702160, 31825140, 26467025
SCV003811844	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 30, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000293554

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Nov 19, 2015)

germline

clinical testing

Citation Link,

SCV001133627

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Pathogenic
(May 2, 2023)

unknown

clinical testing

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

SCV003811844

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 30, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV003811844.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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