NM_007294.4(BRCA1):c.5371G>T (p.Val1791Leu) AND Breast-ovarian cancer, familial, susceptibility to, 1
- Germline classification:
- Uncertain significance (4 submissions)
- Last evaluated:
- Dec 13, 2023
- Review status:
- 2 stars out of maximum of 4 starscriteria provided, multiple submitters, no conflicts
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000210112.9
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
This HGVS expression did not pass validation- 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)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5371G>T, a MISSENSE variant, produced a function score of 0.04, corresponding to a functional classification of FUNCTIONAL. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12.
- Observations:
- 2
Condition(s)
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000266158 | University of Washington Department of Laboratory Medicine, University of Washington | criteria provided, single submitter (Shirts et al. (Genet Med 2016)) | Uncertain significance (Nov 20, 2015) | germline | clinical testing | |
SCV001238639 | Brotman Baty Institute, University of Washington | no classification provided | not provided | not applicable | in vitro | |
SCV001440671 | Institute of Human Genetics, University of Leipzig Medical Center | criteria provided, single submitter (ACMG Guidelines, 2015) | Uncertain significance (Jan 1, 2019) | unknown | clinical testing | |
SCV004817556 | All of Us Research Program, National Institutes of Health | criteria provided, single submitter (ACMG Guidelines, 2015) | Uncertain Significance (Dec 13, 2023) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | not applicable | not applicable | not provided | not provided | not provided | not provided | not provided | in vitro |
not provided | germline | yes | 1 | not provided | not provided | 1 | not provided | clinical testing |
not provided | germline | unknown | 1 | not provided | not provided | 108544 | not provided | clinical testing |
not provided | unknown | yes | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
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.
- 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.
- PMID:
- 26845104
Details of each submission
From University of Washington Department of Laboratory Medicine, University of Washington, SCV000266158.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | 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 | yes | 1 | not provided | not provided | 1 | not provided | not provided | not provided |
From Brotman Baty Institute, University of Washington, SCV001238639.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | in vitro | PubMed (1) |
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | not applicable | not applicable | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Institute of Human Genetics, University of Leipzig Medical Center, SCV001440671.1
# | 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 | unknown | yes | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From All of Us Research Program, National Institutes of Health, SCV004817556.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | not provided | not provided | clinical 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.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | 108544 | not provided | not provided | 1 | not provided | not provided | not provided |
Last Updated: Oct 8, 2024