U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.5371G>T (p.Val1791Leu) AND Hereditary cancer-predisposing syndrome

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Nov 16, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV000130773.14

Allele description [Variation Report for NM_007294.4(BRCA1):c.5371G>T (p.Val1791Leu)]

NM_007294.4(BRCA1):c.5371G>T (p.Val1791Leu)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.5371G>T (p.Val1791Leu)
HGVS:
  • NC_000017.11:g.43049156C>A
  • NG_005905.2:g.168828G>T
  • NM_001407571.1:c.5158G>T
  • NM_001407581.1:c.5437G>T
  • NM_001407582.1:c.5437G>T
  • NM_001407583.1:c.5434G>T
  • NM_001407585.1:c.5434G>T
  • NM_001407587.1:c.5434G>T
  • NM_001407590.1:c.5431G>T
  • NM_001407591.1:c.5431G>T
  • NM_001407593.1:c.5371G>T
  • NM_001407594.1:c.5371G>T
  • NM_001407596.1:c.5371G>T
  • NM_001407597.1:c.5371G>T
  • NM_001407598.1:c.5371G>T
  • NM_001407602.1:c.5371G>T
  • NM_001407603.1:c.5371G>T
  • NM_001407605.1:c.5371G>T
  • NM_001407610.1:c.5368G>T
  • NM_001407611.1:c.5368G>T
  • NM_001407612.1:c.5368G>T
  • NM_001407613.1:c.5368G>T
  • NM_001407614.1:c.5368G>T
  • NM_001407615.1:c.5368G>T
  • NM_001407616.1:c.5368G>T
  • NM_001407617.1:c.5368G>T
  • NM_001407618.1:c.5368G>T
  • NM_001407619.1:c.5368G>T
  • NM_001407620.1:c.5368G>T
  • NM_001407621.1:c.5368G>T
  • NM_001407622.1:c.5368G>T
  • NM_001407623.1:c.5368G>T
  • NM_001407624.1:c.5368G>T
  • NM_001407625.1:c.5368G>T
  • NM_001407626.1:c.5368G>T
  • NM_001407627.1:c.5365G>T
  • NM_001407628.1:c.5365G>T
  • NM_001407629.1:c.5365G>T
  • NM_001407630.1:c.5365G>T
  • NM_001407631.1:c.5365G>T
  • NM_001407632.1:c.5365G>T
  • NM_001407633.1:c.5365G>T
  • NM_001407634.1:c.5365G>T
  • NM_001407635.1:c.5365G>T
  • NM_001407636.1:c.5365G>T
  • NM_001407637.1:c.5365G>T
  • NM_001407638.1:c.5365G>T
  • NM_001407639.1:c.5365G>T
  • NM_001407640.1:c.5365G>T
  • NM_001407641.1:c.5365G>T
  • NM_001407642.1:c.5365G>T
  • NM_001407644.1:c.5362G>T
  • NM_001407645.1:c.5362G>T
  • NM_001407646.1:c.5359G>T
  • NM_001407647.1:c.5356G>T
  • NM_001407648.1:c.5314G>T
  • NM_001407649.1:c.5311G>T
  • NM_001407652.1:c.5293G>T
  • NM_001407653.1:c.5293G>T
  • NM_001407654.1:c.5293G>T
  • NM_001407655.1:c.5293G>T
  • NM_001407656.1:c.5290G>T
  • NM_001407657.1:c.5290G>T
  • NM_001407658.1:c.5290G>T
  • NM_001407659.1:c.5287G>T
  • NM_001407660.1:c.5287G>T
  • NM_001407661.1:c.5287G>T
  • NM_001407662.1:c.5287G>T
  • NM_001407663.1:c.5287G>T
  • NM_001407664.1:c.5248G>T
  • NM_001407665.1:c.5248G>T
  • NM_001407666.1:c.5248G>T
  • NM_001407667.1:c.5248G>T
  • NM_001407668.1:c.5248G>T
  • NM_001407669.1:c.5248G>T
  • NM_001407670.1:c.5245G>T
  • NM_001407671.1:c.5245G>T
  • NM_001407672.1:c.5245G>T
  • NM_001407673.1:c.5245G>T
  • NM_001407674.1:c.5245G>T
  • NM_001407675.1:c.5245G>T
  • NM_001407676.1:c.5245G>T
  • NM_001407677.1:c.5245G>T
  • NM_001407678.1:c.5245G>T
  • NM_001407679.1:c.5245G>T
  • NM_001407680.1:c.5245G>T
  • NM_001407681.1:c.5242G>T
  • NM_001407682.1:c.5242G>T
  • NM_001407683.1:c.5242G>T
  • NM_001407685.1:c.5242G>T
  • NM_001407686.1:c.5242G>T
  • NM_001407687.1:c.5242G>T
  • NM_001407688.1:c.5242G>T
  • NM_001407689.1:c.5242G>T
  • NM_001407690.1:c.5239G>T
  • NM_001407691.1:c.5239G>T
  • NM_001407692.1:c.5230G>T
  • NM_001407694.1:c.5230G>T
  • NM_001407695.1:c.5230G>T
  • NM_001407696.1:c.5230G>T
  • NM_001407697.1:c.5230G>T
  • NM_001407698.1:c.5230G>T
  • NM_001407724.1:c.5230G>T
  • NM_001407725.1:c.5230G>T
  • NM_001407726.1:c.5230G>T
  • NM_001407727.1:c.5230G>T
  • NM_001407728.1:c.5230G>T
  • NM_001407729.1:c.5230G>T
  • NM_001407730.1:c.5230G>T
  • NM_001407731.1:c.5230G>T
  • NM_001407732.1:c.5227G>T
  • NM_001407733.1:c.5227G>T
  • NM_001407734.1:c.5227G>T
  • NM_001407735.1:c.5227G>T
  • NM_001407736.1:c.5227G>T
  • NM_001407737.1:c.5227G>T
  • NM_001407738.1:c.5227G>T
  • NM_001407739.1:c.5227G>T
  • NM_001407740.1:c.5227G>T
  • NM_001407741.1:c.5227G>T
  • NM_001407742.1:c.5227G>T
  • NM_001407743.1:c.5227G>T
  • NM_001407744.1:c.5227G>T
  • NM_001407745.1:c.5227G>T
  • NM_001407746.1:c.5227G>T
  • NM_001407747.1:c.5227G>T
  • NM_001407748.1:c.5227G>T
  • NM_001407749.1:c.5227G>T
  • NM_001407750.1:c.5227G>T
  • NM_001407751.1:c.5227G>T
  • NM_001407752.1:c.5227G>T
  • NM_001407838.1:c.5224G>T
  • NM_001407839.1:c.5224G>T
  • NM_001407841.1:c.5224G>T
  • NM_001407842.1:c.5224G>T
  • NM_001407843.1:c.5224G>T
  • NM_001407844.1:c.5224G>T
  • NM_001407845.1:c.5224G>T
  • NM_001407846.1:c.5224G>T
  • NM_001407847.1:c.5224G>T
  • NM_001407848.1:c.5224G>T
  • NM_001407849.1:c.5224G>T
  • NM_001407850.1:c.5224G>T
  • NM_001407851.1:c.5224G>T
  • NM_001407852.1:c.5224G>T
  • NM_001407853.1:c.5224G>T
  • NM_001407862.1:c.5170G>T
  • NM_001407863.1:c.5167G>T
  • NM_001407874.1:c.5164G>T
  • NM_001407875.1:c.5164G>T
  • NM_001407879.1:c.5161G>T
  • NM_001407881.1:c.5161G>T
  • NM_001407882.1:c.5161G>T
  • NM_001407884.1:c.5161G>T
  • NM_001407885.1:c.5161G>T
  • NM_001407886.1:c.5161G>T
  • NM_001407887.1:c.5161G>T
  • NM_001407889.1:c.5161G>T
  • NM_001407894.1:c.5158G>T
  • NM_001407895.1:c.5158G>T
  • NM_001407896.1:c.5158G>T
  • NM_001407897.1:c.5158G>T
  • NM_001407898.1:c.5158G>T
  • NM_001407899.1:c.5158G>T
  • NM_001407900.1:c.5158G>T
  • NM_001407902.1:c.5158G>T
  • NM_001407904.1:c.5158G>T
  • NM_001407906.1:c.5158G>T
  • NM_001407907.1:c.5158G>T
  • NM_001407908.1:c.5158G>T
  • NM_001407909.1:c.5158G>T
  • NM_001407910.1:c.5158G>T
  • NM_001407915.1:c.5155G>T
  • NM_001407916.1:c.5155G>T
  • NM_001407917.1:c.5155G>T
  • NM_001407918.1:c.5155G>T
  • NM_001407920.1:c.5107G>T
  • NM_001407921.1:c.5107G>T
  • NM_001407922.1:c.5107G>T
  • NM_001407923.1:c.5107G>T
  • NM_001407924.1:c.5107G>T
  • NM_001407925.1:c.5107G>T
  • NM_001407926.1:c.5107G>T
  • NM_001407927.1:c.5104G>T
  • NM_001407928.1:c.5104G>T
  • NM_001407929.1:c.5104G>T
  • NM_001407930.1:c.5104G>T
  • NM_001407931.1:c.5104G>T
  • NM_001407932.1:c.5104G>T
  • NM_001407933.1:c.5104G>T
  • NM_001407934.1:c.5101G>T
  • NM_001407935.1:c.5101G>T
  • NM_001407936.1:c.5101G>T
  • NM_001407946.1:c.5038G>T
  • NM_001407947.1:c.5038G>T
  • NM_001407948.1:c.5038G>T
  • NM_001407949.1:c.5038G>T
  • NM_001407950.1:c.5035G>T
  • NM_001407951.1:c.5035G>T
  • NM_001407952.1:c.5035G>T
  • NM_001407953.1:c.5035G>T
  • NM_001407954.1:c.5035G>T
  • NM_001407955.1:c.5035G>T
  • NM_001407956.1:c.5032G>T
  • NM_001407957.1:c.5032G>T
  • NM_001407958.1:c.5032G>T
  • NM_001407959.1:c.4990G>T
  • NM_001407960.1:c.4987G>T
  • NM_001407962.1:c.4987G>T
  • NM_001407963.1:c.4984G>T
  • NM_001407964.1:c.4909G>T
  • NM_001407965.1:c.4864G>T
  • NM_001407966.1:c.4483G>T
  • NM_001407967.1:c.4480G>T
  • NM_001407968.1:c.2767G>T
  • NM_001407969.1:c.2764G>T
  • NM_001407970.1:c.2128G>T
  • NM_001407971.1:c.2128G>T
  • NM_001407972.1:c.2125G>T
  • NM_001407973.1:c.2062G>T
  • NM_001407974.1:c.2062G>T
  • NM_001407975.1:c.2062G>T
  • NM_001407976.1:c.2062G>T
  • NM_001407977.1:c.2062G>T
  • NM_001407978.1:c.2062G>T
  • NM_001407979.1:c.2059G>T
  • NM_001407980.1:c.2059G>T
  • NM_001407981.1:c.2059G>T
  • NM_001407982.1:c.2059G>T
  • NM_001407983.1:c.2059G>T
  • NM_001407984.1:c.2059G>T
  • NM_001407985.1:c.2059G>T
  • NM_001407986.1:c.2059G>T
  • NM_001407990.1:c.2059G>T
  • NM_001407991.1:c.2059G>T
  • NM_001407992.1:c.2059G>T
  • NM_001407993.1:c.2059G>T
  • NM_001408392.1:c.2056G>T
  • NM_001408396.1:c.2056G>T
  • NM_001408397.1:c.2056G>T
  • NM_001408398.1:c.2056G>T
  • NM_001408399.1:c.2056G>T
  • NM_001408400.1:c.2056G>T
  • NM_001408401.1:c.2056G>T
  • NM_001408402.1:c.2056G>T
  • NM_001408403.1:c.2056G>T
  • NM_001408404.1:c.2056G>T
  • NM_001408406.1:c.2053G>T
  • NM_001408407.1:c.2053G>T
  • NM_001408408.1:c.2053G>T
  • NM_001408409.1:c.2050G>T
  • NM_001408410.1:c.1987G>T
  • NM_001408411.1:c.1984G>T
  • NM_001408412.1:c.1981G>T
  • NM_001408413.1:c.1981G>T
  • NM_001408414.1:c.1981G>T
  • NM_001408415.1:c.1981G>T
  • NM_001408416.1:c.1981G>T
  • NM_001408418.1:c.1945G>T
  • NM_001408419.1:c.1945G>T
  • NM_001408420.1:c.1945G>T
  • NM_001408421.1:c.1942G>T
  • NM_001408422.1:c.1942G>T
  • NM_001408423.1:c.1942G>T
  • NM_001408424.1:c.1942G>T
  • NM_001408425.1:c.1939G>T
  • NM_001408426.1:c.1939G>T
  • NM_001408427.1:c.1939G>T
  • NM_001408428.1:c.1939G>T
  • NM_001408429.1:c.1939G>T
  • NM_001408430.1:c.1939G>T
  • NM_001408431.1:c.1939G>T
  • NM_001408432.1:c.1936G>T
  • NM_001408433.1:c.1936G>T
  • NM_001408434.1:c.1936G>T
  • NM_001408435.1:c.1936G>T
  • NM_001408436.1:c.1936G>T
  • NM_001408437.1:c.1936G>T
  • NM_001408438.1:c.1936G>T
  • NM_001408439.1:c.1936G>T
  • NM_001408440.1:c.1936G>T
  • NM_001408441.1:c.1936G>T
  • NM_001408442.1:c.1936G>T
  • NM_001408443.1:c.1936G>T
  • NM_001408444.1:c.1936G>T
  • NM_001408445.1:c.1933G>T
  • NM_001408446.1:c.1933G>T
  • NM_001408447.1:c.1933G>T
  • NM_001408448.1:c.1933G>T
  • NM_001408450.1:c.1933G>T
  • NM_001408451.1:c.1927G>T
  • NM_001408452.1:c.1921G>T
  • NM_001408453.1:c.1921G>T
  • NM_001408454.1:c.1921G>T
  • NM_001408455.1:c.1921G>T
  • NM_001408456.1:c.1921G>T
  • NM_001408457.1:c.1921G>T
  • NM_001408458.1:c.1918G>T
  • NM_001408459.1:c.1918G>T
  • NM_001408460.1:c.1918G>T
  • NM_001408461.1:c.1918G>T
  • NM_001408462.1:c.1918G>T
  • NM_001408463.1:c.1918G>T
  • NM_001408464.1:c.1918G>T
  • NM_001408465.1:c.1918G>T
  • NM_001408466.1:c.1918G>T
  • NM_001408467.1:c.1918G>T
  • NM_001408468.1:c.1915G>T
  • NM_001408469.1:c.1915G>T
  • NM_001408470.1:c.1915G>T
  • NM_001408474.1:c.1861G>T
  • NM_001408475.1:c.1858G>T
  • NM_001408476.1:c.1858G>T
  • NM_001408478.1:c.1852G>T
  • NM_001408479.1:c.1852G>T
  • NM_001408480.1:c.1852G>T
  • NM_001408481.1:c.1849G>T
  • NM_001408482.1:c.1849G>T
  • NM_001408483.1:c.1849G>T
  • NM_001408484.1:c.1849G>T
  • NM_001408485.1:c.1849G>T
  • NM_001408489.1:c.1849G>T
  • NM_001408490.1:c.1849G>T
  • NM_001408491.1:c.1849G>T
  • NM_001408492.1:c.1846G>T
  • NM_001408493.1:c.1846G>T
  • NM_001408494.1:c.1822G>T
  • NM_001408495.1:c.1816G>T
  • NM_001408496.1:c.1798G>T
  • NM_001408497.1:c.1798G>T
  • NM_001408498.1:c.1798G>T
  • NM_001408499.1:c.1798G>T
  • NM_001408500.1:c.1798G>T
  • NM_001408501.1:c.1798G>T
  • NM_001408502.1:c.1795G>T
  • NM_001408503.1:c.1795G>T
  • NM_001408504.1:c.1795G>T
  • NM_001408505.1:c.1792G>T
  • NM_001408506.1:c.1735G>T
  • NM_001408507.1:c.1732G>T
  • NM_001408508.1:c.1723G>T
  • NM_001408509.1:c.1720G>T
  • NM_001408510.1:c.1681G>T
  • NM_001408511.1:c.1678G>T
  • NM_001408512.1:c.1558G>T
  • NM_001408513.1:c.1531G>T
  • NM_001408514.1:c.1135G>T
  • NM_007294.4:c.5371G>TMANE SELECT
  • NM_007297.4:c.5230G>T
  • NM_007298.4:c.2059G>T
  • NM_007299.4:c.2021-1453G>T
  • NM_007300.4:c.5434G>T
  • NM_007304.2:c.2059G>T
  • NP_001394500.1:p.Val1720Leu
  • NP_001394510.1:p.Val1813Leu
  • NP_001394511.1:p.Val1813Leu
  • NP_001394512.1:p.Val1812Leu
  • NP_001394514.1:p.Val1812Leu
  • NP_001394516.1:p.Val1812Leu
  • NP_001394519.1:p.Val1811Leu
  • NP_001394520.1:p.Val1811Leu
  • NP_001394522.1:p.Val1791Leu
  • NP_001394523.1:p.Val1791Leu
  • NP_001394525.1:p.Val1791Leu
  • NP_001394526.1:p.Val1791Leu
  • NP_001394527.1:p.Val1791Leu
  • NP_001394531.1:p.Val1791Leu
  • NP_001394532.1:p.Val1791Leu
  • NP_001394534.1:p.Val1791Leu
  • NP_001394539.1:p.Val1790Leu
  • NP_001394540.1:p.Val1790Leu
  • NP_001394541.1:p.Val1790Leu
  • NP_001394542.1:p.Val1790Leu
  • NP_001394543.1:p.Val1790Leu
  • NP_001394544.1:p.Val1790Leu
  • NP_001394545.1:p.Val1790Leu
  • NP_001394546.1:p.Val1790Leu
  • NP_001394547.1:p.Val1790Leu
  • NP_001394548.1:p.Val1790Leu
  • NP_001394549.1:p.Val1790Leu
  • NP_001394550.1:p.Val1790Leu
  • NP_001394551.1:p.Val1790Leu
  • NP_001394552.1:p.Val1790Leu
  • NP_001394553.1:p.Val1790Leu
  • NP_001394554.1:p.Val1790Leu
  • NP_001394555.1:p.Val1790Leu
  • NP_001394556.1:p.Val1789Leu
  • NP_001394557.1:p.Val1789Leu
  • NP_001394558.1:p.Val1789Leu
  • NP_001394559.1:p.Val1789Leu
  • NP_001394560.1:p.Val1789Leu
  • NP_001394561.1:p.Val1789Leu
  • NP_001394562.1:p.Val1789Leu
  • NP_001394563.1:p.Val1789Leu
  • NP_001394564.1:p.Val1789Leu
  • NP_001394565.1:p.Val1789Leu
  • NP_001394566.1:p.Val1789Leu
  • NP_001394567.1:p.Val1789Leu
  • NP_001394568.1:p.Val1789Leu
  • NP_001394569.1:p.Val1789Leu
  • NP_001394570.1:p.Val1789Leu
  • NP_001394571.1:p.Val1789Leu
  • NP_001394573.1:p.Val1788Leu
  • NP_001394574.1:p.Val1788Leu
  • NP_001394575.1:p.Val1787Leu
  • NP_001394576.1:p.Val1786Leu
  • NP_001394577.1:p.Val1772Leu
  • NP_001394578.1:p.Val1771Leu
  • NP_001394581.1:p.Val1765Leu
  • NP_001394582.1:p.Val1765Leu
  • NP_001394583.1:p.Val1765Leu
  • NP_001394584.1:p.Val1765Leu
  • NP_001394585.1:p.Val1764Leu
  • NP_001394586.1:p.Val1764Leu
  • NP_001394587.1:p.Val1764Leu
  • NP_001394588.1:p.Val1763Leu
  • NP_001394589.1:p.Val1763Leu
  • NP_001394590.1:p.Val1763Leu
  • NP_001394591.1:p.Val1763Leu
  • NP_001394592.1:p.Val1763Leu
  • NP_001394593.1:p.Val1750Leu
  • NP_001394594.1:p.Val1750Leu
  • NP_001394595.1:p.Val1750Leu
  • NP_001394596.1:p.Val1750Leu
  • NP_001394597.1:p.Val1750Leu
  • NP_001394598.1:p.Val1750Leu
  • NP_001394599.1:p.Val1749Leu
  • NP_001394600.1:p.Val1749Leu
  • NP_001394601.1:p.Val1749Leu
  • NP_001394602.1:p.Val1749Leu
  • NP_001394603.1:p.Val1749Leu
  • NP_001394604.1:p.Val1749Leu
  • NP_001394605.1:p.Val1749Leu
  • NP_001394606.1:p.Val1749Leu
  • NP_001394607.1:p.Val1749Leu
  • NP_001394608.1:p.Val1749Leu
  • NP_001394609.1:p.Val1749Leu
  • NP_001394610.1:p.Val1748Leu
  • NP_001394611.1:p.Val1748Leu
  • NP_001394612.1:p.Val1748Leu
  • NP_001394614.1:p.Val1748Leu
  • NP_001394615.1:p.Val1748Leu
  • NP_001394616.1:p.Val1748Leu
  • NP_001394617.1:p.Val1748Leu
  • NP_001394618.1:p.Val1748Leu
  • NP_001394619.1:p.Val1747Leu
  • NP_001394620.1:p.Val1747Leu
  • NP_001394621.1:p.Val1744Leu
  • NP_001394623.1:p.Val1744Leu
  • NP_001394624.1:p.Val1744Leu
  • NP_001394625.1:p.Val1744Leu
  • NP_001394626.1:p.Val1744Leu
  • NP_001394627.1:p.Val1744Leu
  • NP_001394653.1:p.Val1744Leu
  • NP_001394654.1:p.Val1744Leu
  • NP_001394655.1:p.Val1744Leu
  • NP_001394656.1:p.Val1744Leu
  • NP_001394657.1:p.Val1744Leu
  • NP_001394658.1:p.Val1744Leu
  • NP_001394659.1:p.Val1744Leu
  • NP_001394660.1:p.Val1744Leu
  • NP_001394661.1:p.Val1743Leu
  • NP_001394662.1:p.Val1743Leu
  • NP_001394663.1:p.Val1743Leu
  • NP_001394664.1:p.Val1743Leu
  • NP_001394665.1:p.Val1743Leu
  • NP_001394666.1:p.Val1743Leu
  • NP_001394667.1:p.Val1743Leu
  • NP_001394668.1:p.Val1743Leu
  • NP_001394669.1:p.Val1743Leu
  • NP_001394670.1:p.Val1743Leu
  • NP_001394671.1:p.Val1743Leu
  • NP_001394672.1:p.Val1743Leu
  • NP_001394673.1:p.Val1743Leu
  • NP_001394674.1:p.Val1743Leu
  • NP_001394675.1:p.Val1743Leu
  • NP_001394676.1:p.Val1743Leu
  • NP_001394677.1:p.Val1743Leu
  • NP_001394678.1:p.Val1743Leu
  • NP_001394679.1:p.Val1743Leu
  • NP_001394680.1:p.Val1743Leu
  • NP_001394681.1:p.Val1743Leu
  • NP_001394767.1:p.Val1742Leu
  • NP_001394768.1:p.Val1742Leu
  • NP_001394770.1:p.Val1742Leu
  • NP_001394771.1:p.Val1742Leu
  • NP_001394772.1:p.Val1742Leu
  • NP_001394773.1:p.Val1742Leu
  • NP_001394774.1:p.Val1742Leu
  • NP_001394775.1:p.Val1742Leu
  • NP_001394776.1:p.Val1742Leu
  • NP_001394777.1:p.Val1742Leu
  • NP_001394778.1:p.Val1742Leu
  • NP_001394779.1:p.Val1742Leu
  • NP_001394780.1:p.Val1742Leu
  • NP_001394781.1:p.Val1742Leu
  • NP_001394782.1:p.Val1742Leu
  • NP_001394791.1:p.Val1724Leu
  • NP_001394792.1:p.Val1723Leu
  • NP_001394803.1:p.Val1722Leu
  • NP_001394804.1:p.Val1722Leu
  • NP_001394808.1:p.Val1721Leu
  • NP_001394810.1:p.Val1721Leu
  • NP_001394811.1:p.Val1721Leu
  • NP_001394813.1:p.Val1721Leu
  • NP_001394814.1:p.Val1721Leu
  • NP_001394815.1:p.Val1721Leu
  • NP_001394816.1:p.Val1721Leu
  • NP_001394818.1:p.Val1721Leu
  • NP_001394823.1:p.Val1720Leu
  • NP_001394824.1:p.Val1720Leu
  • NP_001394825.1:p.Val1720Leu
  • NP_001394826.1:p.Val1720Leu
  • NP_001394827.1:p.Val1720Leu
  • NP_001394828.1:p.Val1720Leu
  • NP_001394829.1:p.Val1720Leu
  • NP_001394831.1:p.Val1720Leu
  • NP_001394833.1:p.Val1720Leu
  • NP_001394835.1:p.Val1720Leu
  • NP_001394836.1:p.Val1720Leu
  • NP_001394837.1:p.Val1720Leu
  • NP_001394838.1:p.Val1720Leu
  • NP_001394839.1:p.Val1720Leu
  • NP_001394844.1:p.Val1719Leu
  • NP_001394845.1:p.Val1719Leu
  • NP_001394846.1:p.Val1719Leu
  • NP_001394847.1:p.Val1719Leu
  • NP_001394849.1:p.Val1703Leu
  • NP_001394850.1:p.Val1703Leu
  • NP_001394851.1:p.Val1703Leu
  • NP_001394852.1:p.Val1703Leu
  • NP_001394853.1:p.Val1703Leu
  • NP_001394854.1:p.Val1703Leu
  • NP_001394855.1:p.Val1703Leu
  • NP_001394856.1:p.Val1702Leu
  • NP_001394857.1:p.Val1702Leu
  • NP_001394858.1:p.Val1702Leu
  • NP_001394859.1:p.Val1702Leu
  • NP_001394860.1:p.Val1702Leu
  • NP_001394861.1:p.Val1702Leu
  • NP_001394862.1:p.Val1702Leu
  • NP_001394863.1:p.Val1701Leu
  • NP_001394864.1:p.Val1701Leu
  • NP_001394865.1:p.Val1701Leu
  • NP_001394875.1:p.Val1680Leu
  • NP_001394876.1:p.Val1680Leu
  • NP_001394877.1:p.Val1680Leu
  • NP_001394878.1:p.Val1680Leu
  • NP_001394879.1:p.Val1679Leu
  • NP_001394880.1:p.Val1679Leu
  • NP_001394881.1:p.Val1679Leu
  • NP_001394882.1:p.Val1679Leu
  • NP_001394883.1:p.Val1679Leu
  • NP_001394884.1:p.Val1679Leu
  • NP_001394885.1:p.Val1678Leu
  • NP_001394886.1:p.Val1678Leu
  • NP_001394887.1:p.Val1678Leu
  • NP_001394888.1:p.Val1664Leu
  • NP_001394889.1:p.Val1663Leu
  • NP_001394891.1:p.Val1663Leu
  • NP_001394892.1:p.Val1662Leu
  • NP_001394893.1:p.Val1637Leu
  • NP_001394894.1:p.Val1622Leu
  • NP_001394895.1:p.Val1495Leu
  • NP_001394896.1:p.Val1494Leu
  • NP_001394897.1:p.Val923Leu
  • NP_001394898.1:p.Val922Leu
  • NP_001394899.1:p.Val710Leu
  • NP_001394900.1:p.Val710Leu
  • NP_001394901.1:p.Val709Leu
  • NP_001394902.1:p.Val688Leu
  • NP_001394903.1:p.Val688Leu
  • NP_001394904.1:p.Val688Leu
  • NP_001394905.1:p.Val688Leu
  • NP_001394906.1:p.Val688Leu
  • NP_001394907.1:p.Val688Leu
  • NP_001394908.1:p.Val687Leu
  • NP_001394909.1:p.Val687Leu
  • NP_001394910.1:p.Val687Leu
  • NP_001394911.1:p.Val687Leu
  • NP_001394912.1:p.Val687Leu
  • NP_001394913.1:p.Val687Leu
  • NP_001394914.1:p.Val687Leu
  • NP_001394915.1:p.Val687Leu
  • NP_001394919.1:p.Val687Leu
  • NP_001394920.1:p.Val687Leu
  • NP_001394921.1:p.Val687Leu
  • NP_001394922.1:p.Val687Leu
  • NP_001395321.1:p.Val686Leu
  • NP_001395325.1:p.Val686Leu
  • NP_001395326.1:p.Val686Leu
  • NP_001395327.1:p.Val686Leu
  • NP_001395328.1:p.Val686Leu
  • NP_001395329.1:p.Val686Leu
  • NP_001395330.1:p.Val686Leu
  • NP_001395331.1:p.Val686Leu
  • NP_001395332.1:p.Val686Leu
  • NP_001395333.1:p.Val686Leu
  • NP_001395335.1:p.Val685Leu
  • NP_001395336.1:p.Val685Leu
  • NP_001395337.1:p.Val685Leu
  • NP_001395338.1:p.Val684Leu
  • NP_001395339.1:p.Val663Leu
  • NP_001395340.1:p.Val662Leu
  • NP_001395341.1:p.Val661Leu
  • NP_001395342.1:p.Val661Leu
  • NP_001395343.1:p.Val661Leu
  • NP_001395344.1:p.Val661Leu
  • NP_001395345.1:p.Val661Leu
  • NP_001395347.1:p.Val649Leu
  • NP_001395348.1:p.Val649Leu
  • NP_001395349.1:p.Val649Leu
  • NP_001395350.1:p.Val648Leu
  • NP_001395351.1:p.Val648Leu
  • NP_001395352.1:p.Val648Leu
  • NP_001395353.1:p.Val648Leu
  • NP_001395354.1:p.Val647Leu
  • NP_001395355.1:p.Val647Leu
  • NP_001395356.1:p.Val647Leu
  • NP_001395357.1:p.Val647Leu
  • NP_001395358.1:p.Val647Leu
  • NP_001395359.1:p.Val647Leu
  • NP_001395360.1:p.Val647Leu
  • NP_001395361.1:p.Val646Leu
  • NP_001395362.1:p.Val646Leu
  • NP_001395363.1:p.Val646Leu
  • NP_001395364.1:p.Val646Leu
  • NP_001395365.1:p.Val646Leu
  • NP_001395366.1:p.Val646Leu
  • NP_001395367.1:p.Val646Leu
  • NP_001395368.1:p.Val646Leu
  • NP_001395369.1:p.Val646Leu
  • NP_001395370.1:p.Val646Leu
  • NP_001395371.1:p.Val646Leu
  • NP_001395372.1:p.Val646Leu
  • NP_001395373.1:p.Val646Leu
  • NP_001395374.1:p.Val645Leu
  • NP_001395375.1:p.Val645Leu
  • NP_001395376.1:p.Val645Leu
  • NP_001395377.1:p.Val645Leu
  • NP_001395379.1:p.Val645Leu
  • NP_001395380.1:p.Val643Leu
  • NP_001395381.1:p.Val641Leu
  • NP_001395382.1:p.Val641Leu
  • NP_001395383.1:p.Val641Leu
  • NP_001395384.1:p.Val641Leu
  • NP_001395385.1:p.Val641Leu
  • NP_001395386.1:p.Val641Leu
  • NP_001395387.1:p.Val640Leu
  • NP_001395388.1:p.Val640Leu
  • NP_001395389.1:p.Val640Leu
  • NP_001395390.1:p.Val640Leu
  • NP_001395391.1:p.Val640Leu
  • NP_001395392.1:p.Val640Leu
  • NP_001395393.1:p.Val640Leu
  • NP_001395394.1:p.Val640Leu
  • NP_001395395.1:p.Val640Leu
  • NP_001395396.1:p.Val640Leu
  • NP_001395397.1:p.Val639Leu
  • NP_001395398.1:p.Val639Leu
  • NP_001395399.1:p.Val639Leu
  • NP_001395403.1:p.Val621Leu
  • NP_001395404.1:p.Val620Leu
  • NP_001395405.1:p.Val620Leu
  • NP_001395407.1:p.Val618Leu
  • NP_001395408.1:p.Val618Leu
  • NP_001395409.1:p.Val618Leu
  • NP_001395410.1:p.Val617Leu
  • NP_001395411.1:p.Val617Leu
  • NP_001395412.1:p.Val617Leu
  • NP_001395413.1:p.Val617Leu
  • NP_001395414.1:p.Val617Leu
  • NP_001395418.1:p.Val617Leu
  • NP_001395419.1:p.Val617Leu
  • NP_001395420.1:p.Val617Leu
  • NP_001395421.1:p.Val616Leu
  • NP_001395422.1:p.Val616Leu
  • NP_001395423.1:p.Val608Leu
  • NP_001395424.1:p.Val606Leu
  • NP_001395425.1:p.Val600Leu
  • NP_001395426.1:p.Val600Leu
  • NP_001395427.1:p.Val600Leu
  • NP_001395428.1:p.Val600Leu
  • NP_001395429.1:p.Val600Leu
  • NP_001395430.1:p.Val600Leu
  • NP_001395431.1:p.Val599Leu
  • NP_001395432.1:p.Val599Leu
  • NP_001395433.1:p.Val599Leu
  • NP_001395434.1:p.Val598Leu
  • NP_001395435.1:p.Val579Leu
  • NP_001395436.1:p.Val578Leu
  • NP_001395437.1:p.Val575Leu
  • NP_001395438.1:p.Val574Leu
  • NP_001395439.1:p.Val561Leu
  • NP_001395440.1:p.Val560Leu
  • NP_001395441.1:p.Val520Leu
  • NP_001395442.1:p.Val511Leu
  • NP_001395443.1:p.Val379Leu
  • NP_009225.1:p.Val1791Leu
  • NP_009225.1:p.Val1791Leu
  • NP_009228.2:p.Val1744Leu
  • NP_009229.2:p.Val687Leu
  • NP_009229.2:p.Val687Leu
  • NP_009231.2:p.Val1812Leu
  • NP_009235.2:p.Val687Leu
  • LRG_292t1:c.5371G>T
  • LRG_292:g.168828G>T
  • LRG_292p1:p.Val1791Leu
  • NC_000017.10:g.41201173C>A
  • NM_007294.3:c.5371G>T
  • NM_007298.3:c.2059G>T
  • NR_027676.2:n.5548G>T
  • p.V1791L
Protein change:
V1494L
Links:
dbSNP: rs145758886
NCBI 1000 Genomes Browser:
rs145758886
Molecular consequence:
  • NM_007299.4:c.2021-1453G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.5158G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.5437G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.5437G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.5434G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.5434G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.5434G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.5431G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.5431G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.5371G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.5371G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.5371G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.5371G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.5371G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.5371G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.5371G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.5371G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.5368G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.5368G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.5368G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.5368G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.5368G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.5368G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.5368G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.5368G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.5368G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.5368G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.5368G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.5368G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.5368G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.5368G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.5368G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.5368G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.5368G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.5365G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.5365G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.5365G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.5365G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.5365G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.5365G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.5365G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.5365G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.5365G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.5365G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.5365G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.5365G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.5365G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.5365G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.5365G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.5365G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.5362G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.5362G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.5359G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.5356G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.5314G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.5311G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.5293G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.5293G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.5293G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.5293G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.5290G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.5290G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.5290G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.5287G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.5287G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.5287G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.5287G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.5287G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.5248G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.5248G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.5248G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.5248G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.5248G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.5248G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.5245G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.5245G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.5245G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.5245G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.5245G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.5245G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.5245G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.5245G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.5245G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.5245G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.5245G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.5242G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.5242G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.5242G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.5242G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.5242G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.5242G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.5242G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.5242G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.5239G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.5239G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.5230G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.5230G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.5230G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.5230G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.5230G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.5230G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.5230G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.5230G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.5230G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.5230G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.5230G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.5230G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.5230G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.5230G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.5227G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.5227G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.5227G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.5227G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.5227G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.5227G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.5227G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.5227G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.5227G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.5227G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.5227G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.5227G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.5227G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.5227G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.5227G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.5227G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.5227G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.5227G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.5227G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.5227G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.5227G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.5224G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.5224G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.5224G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.5224G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.5224G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.5224G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.5224G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.5224G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.5224G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.5224G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.5224G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.5224G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.5224G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.5224G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.5224G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.5170G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.5167G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.5164G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.5164G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.5161G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.5161G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.5161G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.5161G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.5161G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.5161G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.5161G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.5161G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.5158G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.5158G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.5158G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.5158G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.5158G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.5158G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.5158G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.5158G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.5158G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.5158G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.5158G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.5158G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.5158G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.5158G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.5155G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.5155G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.5155G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.5155G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.5107G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.5107G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.5107G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.5107G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.5107G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.5107G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.5107G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.5104G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.5104G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.5104G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.5104G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.5104G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.5104G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.5104G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.5101G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.5101G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.5101G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.5038G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.5038G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.5038G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.5038G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.5035G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.5035G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.5035G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.5035G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.5035G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.5035G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.5032G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.5032G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.5032G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4990G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4987G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4987G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4984G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4909G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4864G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.4483G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.4480G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2767G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2764G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.2128G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.2128G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.2125G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.2062G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.2062G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.2062G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.2062G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.2062G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.2062G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.2059G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.2059G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.2059G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.2059G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.2059G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.2059G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.2059G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.2059G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.2059G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.2059G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.2059G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.2059G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.2056G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.2056G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.2056G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.2056G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.2056G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.2056G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.2056G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.2056G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.2056G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.2056G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.2053G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.2053G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.2053G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.2050G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1987G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1984G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1981G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1981G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1981G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1981G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1981G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1945G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1945G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1945G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1942G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1942G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1942G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1942G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1939G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1939G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1939G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1939G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1939G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1939G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1939G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1936G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1936G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1936G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1936G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1936G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1936G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1936G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1936G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1936G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1936G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1936G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1936G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1936G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1933G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1933G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1933G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1933G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1933G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1927G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1921G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1921G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1921G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1921G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1921G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1921G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1918G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1918G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1918G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1918G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1918G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1918G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1918G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1918G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1918G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1918G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1915G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1915G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1915G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1861G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1858G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1858G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1852G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1852G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1852G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1849G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1849G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1849G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1849G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1849G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1849G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1849G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1849G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1846G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1846G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1822G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1816G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1798G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1798G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1798G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1798G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1798G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1798G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1795G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1795G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1795G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1792G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1735G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1732G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1723G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1720G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1681G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1678G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1558G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1531G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.1135G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.5371G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.5230G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.2059G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5434G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.2059G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5548G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000185666Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Dec 7, 2021) 		germlineclinical testing

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

Citation Link,

SCV000683308Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 16, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.

Kluska A, Balabas A, Paziewska A, Kulecka M, Nowakowska D, Mikula M, Ostrowski J.

BMC Med Genomics. 2015 May 7;8:19. doi: 10.1186/s12920-015-0092-2.

PubMed [citation]
PMID:
25948282
PMCID:
PMC4429836

Improving performance of multigene panels for genomic analysis of cancer predisposition.

Shirts BH, Casadei S, Jacobson AL, Lee MK, Gulsuner S, Bennett RL, Miller M, Hall SA, Hampel H, Hisama FM, Naylor LV, Goetsch C, Leppig K, Tait JF, Scroggins SM, Turner EH, Livingston R, Salipante SJ, King MC, Walsh T, Pritchard CC.

Genet Med. 2016 Oct;18(10):974-81. doi: 10.1038/gim.2015.212. Epub 2016 Feb 4.

PubMed [citation]
PMID:
26845104
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV000185666.8

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

From Color Diagnostics, LLC DBA Color Health, SCV000683308.5

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

Description

This missense variant replaces valine with leucine at codon 1791 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function. A functional study reported that this variant does not impact BRCA1 function in a haploid human cell proliferation assay (PMID: 30209399). This variant has been described in at least one individual each affected with breast or ovarian cancer (PMID: 25948282, 26845104) and it also has been detected in a breast cancer case-control meta-analysis in 1/60466 cases and 1/53461 unaffected individuals (PMID: 33471991; Leiden Open Variation Database DB-ID BRCA1_006151). This variant has been identified in 1/251456 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 8, 2024