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NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Apr 13, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000509661.7

Allele description [Variation Report for NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro)]

NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro)

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.5357T>C (p.Leu1786Pro)
Other names:
p.L1786P:CTG>CCG
HGVS:
  • NC_000017.11:g.43049170A>G
  • NG_005905.2:g.168814T>C
  • NM_001407571.1:c.5144T>C
  • NM_001407581.1:c.5423T>C
  • NM_001407582.1:c.5423T>C
  • NM_001407583.1:c.5420T>C
  • NM_001407585.1:c.5420T>C
  • NM_001407587.1:c.5420T>C
  • NM_001407590.1:c.5417T>C
  • NM_001407591.1:c.5417T>C
  • NM_001407593.1:c.5357T>C
  • NM_001407594.1:c.5357T>C
  • NM_001407596.1:c.5357T>C
  • NM_001407597.1:c.5357T>C
  • NM_001407598.1:c.5357T>C
  • NM_001407602.1:c.5357T>C
  • NM_001407603.1:c.5357T>C
  • NM_001407605.1:c.5357T>C
  • NM_001407610.1:c.5354T>C
  • NM_001407611.1:c.5354T>C
  • NM_001407612.1:c.5354T>C
  • NM_001407613.1:c.5354T>C
  • NM_001407614.1:c.5354T>C
  • NM_001407615.1:c.5354T>C
  • NM_001407616.1:c.5354T>C
  • NM_001407617.1:c.5354T>C
  • NM_001407618.1:c.5354T>C
  • NM_001407619.1:c.5354T>C
  • NM_001407620.1:c.5354T>C
  • NM_001407621.1:c.5354T>C
  • NM_001407622.1:c.5354T>C
  • NM_001407623.1:c.5354T>C
  • NM_001407624.1:c.5354T>C
  • NM_001407625.1:c.5354T>C
  • NM_001407626.1:c.5354T>C
  • NM_001407627.1:c.5351T>C
  • NM_001407628.1:c.5351T>C
  • NM_001407629.1:c.5351T>C
  • NM_001407630.1:c.5351T>C
  • NM_001407631.1:c.5351T>C
  • NM_001407632.1:c.5351T>C
  • NM_001407633.1:c.5351T>C
  • NM_001407634.1:c.5351T>C
  • NM_001407635.1:c.5351T>C
  • NM_001407636.1:c.5351T>C
  • NM_001407637.1:c.5351T>C
  • NM_001407638.1:c.5351T>C
  • NM_001407639.1:c.5351T>C
  • NM_001407640.1:c.5351T>C
  • NM_001407641.1:c.5351T>C
  • NM_001407642.1:c.5351T>C
  • NM_001407644.1:c.5348T>C
  • NM_001407645.1:c.5348T>C
  • NM_001407646.1:c.5345T>C
  • NM_001407647.1:c.5342T>C
  • NM_001407648.1:c.5300T>C
  • NM_001407649.1:c.5297T>C
  • NM_001407652.1:c.5279T>C
  • NM_001407653.1:c.5279T>C
  • NM_001407654.1:c.5279T>C
  • NM_001407655.1:c.5279T>C
  • NM_001407656.1:c.5276T>C
  • NM_001407657.1:c.5276T>C
  • NM_001407658.1:c.5276T>C
  • NM_001407659.1:c.5273T>C
  • NM_001407660.1:c.5273T>C
  • NM_001407661.1:c.5273T>C
  • NM_001407662.1:c.5273T>C
  • NM_001407663.1:c.5273T>C
  • NM_001407664.1:c.5234T>C
  • NM_001407665.1:c.5234T>C
  • NM_001407666.1:c.5234T>C
  • NM_001407667.1:c.5234T>C
  • NM_001407668.1:c.5234T>C
  • NM_001407669.1:c.5234T>C
  • NM_001407670.1:c.5231T>C
  • NM_001407671.1:c.5231T>C
  • NM_001407672.1:c.5231T>C
  • NM_001407673.1:c.5231T>C
  • NM_001407674.1:c.5231T>C
  • NM_001407675.1:c.5231T>C
  • NM_001407676.1:c.5231T>C
  • NM_001407677.1:c.5231T>C
  • NM_001407678.1:c.5231T>C
  • NM_001407679.1:c.5231T>C
  • NM_001407680.1:c.5231T>C
  • NM_001407681.1:c.5228T>C
  • NM_001407682.1:c.5228T>C
  • NM_001407683.1:c.5228T>C
  • NM_001407685.1:c.5228T>C
  • NM_001407686.1:c.5228T>C
  • NM_001407687.1:c.5228T>C
  • NM_001407688.1:c.5228T>C
  • NM_001407689.1:c.5228T>C
  • NM_001407690.1:c.5225T>C
  • NM_001407691.1:c.5225T>C
  • NM_001407692.1:c.5216T>C
  • NM_001407694.1:c.5216T>C
  • NM_001407695.1:c.5216T>C
  • NM_001407696.1:c.5216T>C
  • NM_001407697.1:c.5216T>C
  • NM_001407698.1:c.5216T>C
  • NM_001407724.1:c.5216T>C
  • NM_001407725.1:c.5216T>C
  • NM_001407726.1:c.5216T>C
  • NM_001407727.1:c.5216T>C
  • NM_001407728.1:c.5216T>C
  • NM_001407729.1:c.5216T>C
  • NM_001407730.1:c.5216T>C
  • NM_001407731.1:c.5216T>C
  • NM_001407732.1:c.5213T>C
  • NM_001407733.1:c.5213T>C
  • NM_001407734.1:c.5213T>C
  • NM_001407735.1:c.5213T>C
  • NM_001407736.1:c.5213T>C
  • NM_001407737.1:c.5213T>C
  • NM_001407738.1:c.5213T>C
  • NM_001407739.1:c.5213T>C
  • NM_001407740.1:c.5213T>C
  • NM_001407741.1:c.5213T>C
  • NM_001407742.1:c.5213T>C
  • NM_001407743.1:c.5213T>C
  • NM_001407744.1:c.5213T>C
  • NM_001407745.1:c.5213T>C
  • NM_001407746.1:c.5213T>C
  • NM_001407747.1:c.5213T>C
  • NM_001407748.1:c.5213T>C
  • NM_001407749.1:c.5213T>C
  • NM_001407750.1:c.5213T>C
  • NM_001407751.1:c.5213T>C
  • NM_001407752.1:c.5213T>C
  • NM_001407838.1:c.5210T>C
  • NM_001407839.1:c.5210T>C
  • NM_001407841.1:c.5210T>C
  • NM_001407842.1:c.5210T>C
  • NM_001407843.1:c.5210T>C
  • NM_001407844.1:c.5210T>C
  • NM_001407845.1:c.5210T>C
  • NM_001407846.1:c.5210T>C
  • NM_001407847.1:c.5210T>C
  • NM_001407848.1:c.5210T>C
  • NM_001407849.1:c.5210T>C
  • NM_001407850.1:c.5210T>C
  • NM_001407851.1:c.5210T>C
  • NM_001407852.1:c.5210T>C
  • NM_001407853.1:c.5210T>C
  • NM_001407862.1:c.5156T>C
  • NM_001407863.1:c.5153T>C
  • NM_001407874.1:c.5150T>C
  • NM_001407875.1:c.5150T>C
  • NM_001407879.1:c.5147T>C
  • NM_001407881.1:c.5147T>C
  • NM_001407882.1:c.5147T>C
  • NM_001407884.1:c.5147T>C
  • NM_001407885.1:c.5147T>C
  • NM_001407886.1:c.5147T>C
  • NM_001407887.1:c.5147T>C
  • NM_001407889.1:c.5147T>C
  • NM_001407894.1:c.5144T>C
  • NM_001407895.1:c.5144T>C
  • NM_001407896.1:c.5144T>C
  • NM_001407897.1:c.5144T>C
  • NM_001407898.1:c.5144T>C
  • NM_001407899.1:c.5144T>C
  • NM_001407900.1:c.5144T>C
  • NM_001407902.1:c.5144T>C
  • NM_001407904.1:c.5144T>C
  • NM_001407906.1:c.5144T>C
  • NM_001407907.1:c.5144T>C
  • NM_001407908.1:c.5144T>C
  • NM_001407909.1:c.5144T>C
  • NM_001407910.1:c.5144T>C
  • NM_001407915.1:c.5141T>C
  • NM_001407916.1:c.5141T>C
  • NM_001407917.1:c.5141T>C
  • NM_001407918.1:c.5141T>C
  • NM_001407920.1:c.5093T>C
  • NM_001407921.1:c.5093T>C
  • NM_001407922.1:c.5093T>C
  • NM_001407923.1:c.5093T>C
  • NM_001407924.1:c.5093T>C
  • NM_001407925.1:c.5093T>C
  • NM_001407926.1:c.5093T>C
  • NM_001407927.1:c.5090T>C
  • NM_001407928.1:c.5090T>C
  • NM_001407929.1:c.5090T>C
  • NM_001407930.1:c.5090T>C
  • NM_001407931.1:c.5090T>C
  • NM_001407932.1:c.5090T>C
  • NM_001407933.1:c.5090T>C
  • NM_001407934.1:c.5087T>C
  • NM_001407935.1:c.5087T>C
  • NM_001407936.1:c.5087T>C
  • NM_001407946.1:c.5024T>C
  • NM_001407947.1:c.5024T>C
  • NM_001407948.1:c.5024T>C
  • NM_001407949.1:c.5024T>C
  • NM_001407950.1:c.5021T>C
  • NM_001407951.1:c.5021T>C
  • NM_001407952.1:c.5021T>C
  • NM_001407953.1:c.5021T>C
  • NM_001407954.1:c.5021T>C
  • NM_001407955.1:c.5021T>C
  • NM_001407956.1:c.5018T>C
  • NM_001407957.1:c.5018T>C
  • NM_001407958.1:c.5018T>C
  • NM_001407959.1:c.4976T>C
  • NM_001407960.1:c.4973T>C
  • NM_001407962.1:c.4973T>C
  • NM_001407963.1:c.4970T>C
  • NM_001407964.1:c.4895T>C
  • NM_001407965.1:c.4850T>C
  • NM_001407966.1:c.4469T>C
  • NM_001407967.1:c.4466T>C
  • NM_001407968.1:c.2753T>C
  • NM_001407969.1:c.2750T>C
  • NM_001407970.1:c.2114T>C
  • NM_001407971.1:c.2114T>C
  • NM_001407972.1:c.2111T>C
  • NM_001407973.1:c.2048T>C
  • NM_001407974.1:c.2048T>C
  • NM_001407975.1:c.2048T>C
  • NM_001407976.1:c.2048T>C
  • NM_001407977.1:c.2048T>C
  • NM_001407978.1:c.2048T>C
  • NM_001407979.1:c.2045T>C
  • NM_001407980.1:c.2045T>C
  • NM_001407981.1:c.2045T>C
  • NM_001407982.1:c.2045T>C
  • NM_001407983.1:c.2045T>C
  • NM_001407984.1:c.2045T>C
  • NM_001407985.1:c.2045T>C
  • NM_001407986.1:c.2045T>C
  • NM_001407990.1:c.2045T>C
  • NM_001407991.1:c.2045T>C
  • NM_001407992.1:c.2045T>C
  • NM_001407993.1:c.2045T>C
  • NM_001408392.1:c.2042T>C
  • NM_001408396.1:c.2042T>C
  • NM_001408397.1:c.2042T>C
  • NM_001408398.1:c.2042T>C
  • NM_001408399.1:c.2042T>C
  • NM_001408400.1:c.2042T>C
  • NM_001408401.1:c.2042T>C
  • NM_001408402.1:c.2042T>C
  • NM_001408403.1:c.2042T>C
  • NM_001408404.1:c.2042T>C
  • NM_001408406.1:c.2039T>C
  • NM_001408407.1:c.2039T>C
  • NM_001408408.1:c.2039T>C
  • NM_001408409.1:c.2036T>C
  • NM_001408410.1:c.1973T>C
  • NM_001408411.1:c.1970T>C
  • NM_001408412.1:c.1967T>C
  • NM_001408413.1:c.1967T>C
  • NM_001408414.1:c.1967T>C
  • NM_001408415.1:c.1967T>C
  • NM_001408416.1:c.1967T>C
  • NM_001408418.1:c.1931T>C
  • NM_001408419.1:c.1931T>C
  • NM_001408420.1:c.1931T>C
  • NM_001408421.1:c.1928T>C
  • NM_001408422.1:c.1928T>C
  • NM_001408423.1:c.1928T>C
  • NM_001408424.1:c.1928T>C
  • NM_001408425.1:c.1925T>C
  • NM_001408426.1:c.1925T>C
  • NM_001408427.1:c.1925T>C
  • NM_001408428.1:c.1925T>C
  • NM_001408429.1:c.1925T>C
  • NM_001408430.1:c.1925T>C
  • NM_001408431.1:c.1925T>C
  • NM_001408432.1:c.1922T>C
  • NM_001408433.1:c.1922T>C
  • NM_001408434.1:c.1922T>C
  • NM_001408435.1:c.1922T>C
  • NM_001408436.1:c.1922T>C
  • NM_001408437.1:c.1922T>C
  • NM_001408438.1:c.1922T>C
  • NM_001408439.1:c.1922T>C
  • NM_001408440.1:c.1922T>C
  • NM_001408441.1:c.1922T>C
  • NM_001408442.1:c.1922T>C
  • NM_001408443.1:c.1922T>C
  • NM_001408444.1:c.1922T>C
  • NM_001408445.1:c.1919T>C
  • NM_001408446.1:c.1919T>C
  • NM_001408447.1:c.1919T>C
  • NM_001408448.1:c.1919T>C
  • NM_001408450.1:c.1919T>C
  • NM_001408451.1:c.1913T>C
  • NM_001408452.1:c.1907T>C
  • NM_001408453.1:c.1907T>C
  • NM_001408454.1:c.1907T>C
  • NM_001408455.1:c.1907T>C
  • NM_001408456.1:c.1907T>C
  • NM_001408457.1:c.1907T>C
  • NM_001408458.1:c.1904T>C
  • NM_001408459.1:c.1904T>C
  • NM_001408460.1:c.1904T>C
  • NM_001408461.1:c.1904T>C
  • NM_001408462.1:c.1904T>C
  • NM_001408463.1:c.1904T>C
  • NM_001408464.1:c.1904T>C
  • NM_001408465.1:c.1904T>C
  • NM_001408466.1:c.1904T>C
  • NM_001408467.1:c.1904T>C
  • NM_001408468.1:c.1901T>C
  • NM_001408469.1:c.1901T>C
  • NM_001408470.1:c.1901T>C
  • NM_001408474.1:c.1847T>C
  • NM_001408475.1:c.1844T>C
  • NM_001408476.1:c.1844T>C
  • NM_001408478.1:c.1838T>C
  • NM_001408479.1:c.1838T>C
  • NM_001408480.1:c.1838T>C
  • NM_001408481.1:c.1835T>C
  • NM_001408482.1:c.1835T>C
  • NM_001408483.1:c.1835T>C
  • NM_001408484.1:c.1835T>C
  • NM_001408485.1:c.1835T>C
  • NM_001408489.1:c.1835T>C
  • NM_001408490.1:c.1835T>C
  • NM_001408491.1:c.1835T>C
  • NM_001408492.1:c.1832T>C
  • NM_001408493.1:c.1832T>C
  • NM_001408494.1:c.1808T>C
  • NM_001408495.1:c.1802T>C
  • NM_001408496.1:c.1784T>C
  • NM_001408497.1:c.1784T>C
  • NM_001408498.1:c.1784T>C
  • NM_001408499.1:c.1784T>C
  • NM_001408500.1:c.1784T>C
  • NM_001408501.1:c.1784T>C
  • NM_001408502.1:c.1781T>C
  • NM_001408503.1:c.1781T>C
  • NM_001408504.1:c.1781T>C
  • NM_001408505.1:c.1778T>C
  • NM_001408506.1:c.1721T>C
  • NM_001408507.1:c.1718T>C
  • NM_001408508.1:c.1709T>C
  • NM_001408509.1:c.1706T>C
  • NM_001408510.1:c.1667T>C
  • NM_001408511.1:c.1664T>C
  • NM_001408512.1:c.1544T>C
  • NM_001408513.1:c.1517T>C
  • NM_001408514.1:c.1121T>C
  • NM_007294.4:c.5357T>CMANE SELECT
  • NM_007297.4:c.5216T>C
  • NM_007298.4:c.2045T>C
  • NM_007299.4:c.2021-1467T>C
  • NM_007300.4:c.5420T>C
  • NM_007304.2:c.2045T>C
  • NP_001394500.1:p.Leu1715Pro
  • NP_001394510.1:p.Leu1808Pro
  • NP_001394511.1:p.Leu1808Pro
  • NP_001394512.1:p.Leu1807Pro
  • NP_001394514.1:p.Leu1807Pro
  • NP_001394516.1:p.Leu1807Pro
  • NP_001394519.1:p.Leu1806Pro
  • NP_001394520.1:p.Leu1806Pro
  • NP_001394522.1:p.Leu1786Pro
  • NP_001394523.1:p.Leu1786Pro
  • NP_001394525.1:p.Leu1786Pro
  • NP_001394526.1:p.Leu1786Pro
  • NP_001394527.1:p.Leu1786Pro
  • NP_001394531.1:p.Leu1786Pro
  • NP_001394532.1:p.Leu1786Pro
  • NP_001394534.1:p.Leu1786Pro
  • NP_001394539.1:p.Leu1785Pro
  • NP_001394540.1:p.Leu1785Pro
  • NP_001394541.1:p.Leu1785Pro
  • NP_001394542.1:p.Leu1785Pro
  • NP_001394543.1:p.Leu1785Pro
  • NP_001394544.1:p.Leu1785Pro
  • NP_001394545.1:p.Leu1785Pro
  • NP_001394546.1:p.Leu1785Pro
  • NP_001394547.1:p.Leu1785Pro
  • NP_001394548.1:p.Leu1785Pro
  • NP_001394549.1:p.Leu1785Pro
  • NP_001394550.1:p.Leu1785Pro
  • NP_001394551.1:p.Leu1785Pro
  • NP_001394552.1:p.Leu1785Pro
  • NP_001394553.1:p.Leu1785Pro
  • NP_001394554.1:p.Leu1785Pro
  • NP_001394555.1:p.Leu1785Pro
  • NP_001394556.1:p.Leu1784Pro
  • NP_001394557.1:p.Leu1784Pro
  • NP_001394558.1:p.Leu1784Pro
  • NP_001394559.1:p.Leu1784Pro
  • NP_001394560.1:p.Leu1784Pro
  • NP_001394561.1:p.Leu1784Pro
  • NP_001394562.1:p.Leu1784Pro
  • NP_001394563.1:p.Leu1784Pro
  • NP_001394564.1:p.Leu1784Pro
  • NP_001394565.1:p.Leu1784Pro
  • NP_001394566.1:p.Leu1784Pro
  • NP_001394567.1:p.Leu1784Pro
  • NP_001394568.1:p.Leu1784Pro
  • NP_001394569.1:p.Leu1784Pro
  • NP_001394570.1:p.Leu1784Pro
  • NP_001394571.1:p.Leu1784Pro
  • NP_001394573.1:p.Leu1783Pro
  • NP_001394574.1:p.Leu1783Pro
  • NP_001394575.1:p.Leu1782Pro
  • NP_001394576.1:p.Leu1781Pro
  • NP_001394577.1:p.Leu1767Pro
  • NP_001394578.1:p.Leu1766Pro
  • NP_001394581.1:p.Leu1760Pro
  • NP_001394582.1:p.Leu1760Pro
  • NP_001394583.1:p.Leu1760Pro
  • NP_001394584.1:p.Leu1760Pro
  • NP_001394585.1:p.Leu1759Pro
  • NP_001394586.1:p.Leu1759Pro
  • NP_001394587.1:p.Leu1759Pro
  • NP_001394588.1:p.Leu1758Pro
  • NP_001394589.1:p.Leu1758Pro
  • NP_001394590.1:p.Leu1758Pro
  • NP_001394591.1:p.Leu1758Pro
  • NP_001394592.1:p.Leu1758Pro
  • NP_001394593.1:p.Leu1745Pro
  • NP_001394594.1:p.Leu1745Pro
  • NP_001394595.1:p.Leu1745Pro
  • NP_001394596.1:p.Leu1745Pro
  • NP_001394597.1:p.Leu1745Pro
  • NP_001394598.1:p.Leu1745Pro
  • NP_001394599.1:p.Leu1744Pro
  • NP_001394600.1:p.Leu1744Pro
  • NP_001394601.1:p.Leu1744Pro
  • NP_001394602.1:p.Leu1744Pro
  • NP_001394603.1:p.Leu1744Pro
  • NP_001394604.1:p.Leu1744Pro
  • NP_001394605.1:p.Leu1744Pro
  • NP_001394606.1:p.Leu1744Pro
  • NP_001394607.1:p.Leu1744Pro
  • NP_001394608.1:p.Leu1744Pro
  • NP_001394609.1:p.Leu1744Pro
  • NP_001394610.1:p.Leu1743Pro
  • NP_001394611.1:p.Leu1743Pro
  • NP_001394612.1:p.Leu1743Pro
  • NP_001394614.1:p.Leu1743Pro
  • NP_001394615.1:p.Leu1743Pro
  • NP_001394616.1:p.Leu1743Pro
  • NP_001394617.1:p.Leu1743Pro
  • NP_001394618.1:p.Leu1743Pro
  • NP_001394619.1:p.Leu1742Pro
  • NP_001394620.1:p.Leu1742Pro
  • NP_001394621.1:p.Leu1739Pro
  • NP_001394623.1:p.Leu1739Pro
  • NP_001394624.1:p.Leu1739Pro
  • NP_001394625.1:p.Leu1739Pro
  • NP_001394626.1:p.Leu1739Pro
  • NP_001394627.1:p.Leu1739Pro
  • NP_001394653.1:p.Leu1739Pro
  • NP_001394654.1:p.Leu1739Pro
  • NP_001394655.1:p.Leu1739Pro
  • NP_001394656.1:p.Leu1739Pro
  • NP_001394657.1:p.Leu1739Pro
  • NP_001394658.1:p.Leu1739Pro
  • NP_001394659.1:p.Leu1739Pro
  • NP_001394660.1:p.Leu1739Pro
  • NP_001394661.1:p.Leu1738Pro
  • NP_001394662.1:p.Leu1738Pro
  • NP_001394663.1:p.Leu1738Pro
  • NP_001394664.1:p.Leu1738Pro
  • NP_001394665.1:p.Leu1738Pro
  • NP_001394666.1:p.Leu1738Pro
  • NP_001394667.1:p.Leu1738Pro
  • NP_001394668.1:p.Leu1738Pro
  • NP_001394669.1:p.Leu1738Pro
  • NP_001394670.1:p.Leu1738Pro
  • NP_001394671.1:p.Leu1738Pro
  • NP_001394672.1:p.Leu1738Pro
  • NP_001394673.1:p.Leu1738Pro
  • NP_001394674.1:p.Leu1738Pro
  • NP_001394675.1:p.Leu1738Pro
  • NP_001394676.1:p.Leu1738Pro
  • NP_001394677.1:p.Leu1738Pro
  • NP_001394678.1:p.Leu1738Pro
  • NP_001394679.1:p.Leu1738Pro
  • NP_001394680.1:p.Leu1738Pro
  • NP_001394681.1:p.Leu1738Pro
  • NP_001394767.1:p.Leu1737Pro
  • NP_001394768.1:p.Leu1737Pro
  • NP_001394770.1:p.Leu1737Pro
  • NP_001394771.1:p.Leu1737Pro
  • NP_001394772.1:p.Leu1737Pro
  • NP_001394773.1:p.Leu1737Pro
  • NP_001394774.1:p.Leu1737Pro
  • NP_001394775.1:p.Leu1737Pro
  • NP_001394776.1:p.Leu1737Pro
  • NP_001394777.1:p.Leu1737Pro
  • NP_001394778.1:p.Leu1737Pro
  • NP_001394779.1:p.Leu1737Pro
  • NP_001394780.1:p.Leu1737Pro
  • NP_001394781.1:p.Leu1737Pro
  • NP_001394782.1:p.Leu1737Pro
  • NP_001394791.1:p.Leu1719Pro
  • NP_001394792.1:p.Leu1718Pro
  • NP_001394803.1:p.Leu1717Pro
  • NP_001394804.1:p.Leu1717Pro
  • NP_001394808.1:p.Leu1716Pro
  • NP_001394810.1:p.Leu1716Pro
  • NP_001394811.1:p.Leu1716Pro
  • NP_001394813.1:p.Leu1716Pro
  • NP_001394814.1:p.Leu1716Pro
  • NP_001394815.1:p.Leu1716Pro
  • NP_001394816.1:p.Leu1716Pro
  • NP_001394818.1:p.Leu1716Pro
  • NP_001394823.1:p.Leu1715Pro
  • NP_001394824.1:p.Leu1715Pro
  • NP_001394825.1:p.Leu1715Pro
  • NP_001394826.1:p.Leu1715Pro
  • NP_001394827.1:p.Leu1715Pro
  • NP_001394828.1:p.Leu1715Pro
  • NP_001394829.1:p.Leu1715Pro
  • NP_001394831.1:p.Leu1715Pro
  • NP_001394833.1:p.Leu1715Pro
  • NP_001394835.1:p.Leu1715Pro
  • NP_001394836.1:p.Leu1715Pro
  • NP_001394837.1:p.Leu1715Pro
  • NP_001394838.1:p.Leu1715Pro
  • NP_001394839.1:p.Leu1715Pro
  • NP_001394844.1:p.Leu1714Pro
  • NP_001394845.1:p.Leu1714Pro
  • NP_001394846.1:p.Leu1714Pro
  • NP_001394847.1:p.Leu1714Pro
  • NP_001394849.1:p.Leu1698Pro
  • NP_001394850.1:p.Leu1698Pro
  • NP_001394851.1:p.Leu1698Pro
  • NP_001394852.1:p.Leu1698Pro
  • NP_001394853.1:p.Leu1698Pro
  • NP_001394854.1:p.Leu1698Pro
  • NP_001394855.1:p.Leu1698Pro
  • NP_001394856.1:p.Leu1697Pro
  • NP_001394857.1:p.Leu1697Pro
  • NP_001394858.1:p.Leu1697Pro
  • NP_001394859.1:p.Leu1697Pro
  • NP_001394860.1:p.Leu1697Pro
  • NP_001394861.1:p.Leu1697Pro
  • NP_001394862.1:p.Leu1697Pro
  • NP_001394863.1:p.Leu1696Pro
  • NP_001394864.1:p.Leu1696Pro
  • NP_001394865.1:p.Leu1696Pro
  • NP_001394875.1:p.Leu1675Pro
  • NP_001394876.1:p.Leu1675Pro
  • NP_001394877.1:p.Leu1675Pro
  • NP_001394878.1:p.Leu1675Pro
  • NP_001394879.1:p.Leu1674Pro
  • NP_001394880.1:p.Leu1674Pro
  • NP_001394881.1:p.Leu1674Pro
  • NP_001394882.1:p.Leu1674Pro
  • NP_001394883.1:p.Leu1674Pro
  • NP_001394884.1:p.Leu1674Pro
  • NP_001394885.1:p.Leu1673Pro
  • NP_001394886.1:p.Leu1673Pro
  • NP_001394887.1:p.Leu1673Pro
  • NP_001394888.1:p.Leu1659Pro
  • NP_001394889.1:p.Leu1658Pro
  • NP_001394891.1:p.Leu1658Pro
  • NP_001394892.1:p.Leu1657Pro
  • NP_001394893.1:p.Leu1632Pro
  • NP_001394894.1:p.Leu1617Pro
  • NP_001394895.1:p.Leu1490Pro
  • NP_001394896.1:p.Leu1489Pro
  • NP_001394897.1:p.Leu918Pro
  • NP_001394898.1:p.Leu917Pro
  • NP_001394899.1:p.Leu705Pro
  • NP_001394900.1:p.Leu705Pro
  • NP_001394901.1:p.Leu704Pro
  • NP_001394902.1:p.Leu683Pro
  • NP_001394903.1:p.Leu683Pro
  • NP_001394904.1:p.Leu683Pro
  • NP_001394905.1:p.Leu683Pro
  • NP_001394906.1:p.Leu683Pro
  • NP_001394907.1:p.Leu683Pro
  • NP_001394908.1:p.Leu682Pro
  • NP_001394909.1:p.Leu682Pro
  • NP_001394910.1:p.Leu682Pro
  • NP_001394911.1:p.Leu682Pro
  • NP_001394912.1:p.Leu682Pro
  • NP_001394913.1:p.Leu682Pro
  • NP_001394914.1:p.Leu682Pro
  • NP_001394915.1:p.Leu682Pro
  • NP_001394919.1:p.Leu682Pro
  • NP_001394920.1:p.Leu682Pro
  • NP_001394921.1:p.Leu682Pro
  • NP_001394922.1:p.Leu682Pro
  • NP_001395321.1:p.Leu681Pro
  • NP_001395325.1:p.Leu681Pro
  • NP_001395326.1:p.Leu681Pro
  • NP_001395327.1:p.Leu681Pro
  • NP_001395328.1:p.Leu681Pro
  • NP_001395329.1:p.Leu681Pro
  • NP_001395330.1:p.Leu681Pro
  • NP_001395331.1:p.Leu681Pro
  • NP_001395332.1:p.Leu681Pro
  • NP_001395333.1:p.Leu681Pro
  • NP_001395335.1:p.Leu680Pro
  • NP_001395336.1:p.Leu680Pro
  • NP_001395337.1:p.Leu680Pro
  • NP_001395338.1:p.Leu679Pro
  • NP_001395339.1:p.Leu658Pro
  • NP_001395340.1:p.Leu657Pro
  • NP_001395341.1:p.Leu656Pro
  • NP_001395342.1:p.Leu656Pro
  • NP_001395343.1:p.Leu656Pro
  • NP_001395344.1:p.Leu656Pro
  • NP_001395345.1:p.Leu656Pro
  • NP_001395347.1:p.Leu644Pro
  • NP_001395348.1:p.Leu644Pro
  • NP_001395349.1:p.Leu644Pro
  • NP_001395350.1:p.Leu643Pro
  • NP_001395351.1:p.Leu643Pro
  • NP_001395352.1:p.Leu643Pro
  • NP_001395353.1:p.Leu643Pro
  • NP_001395354.1:p.Leu642Pro
  • NP_001395355.1:p.Leu642Pro
  • NP_001395356.1:p.Leu642Pro
  • NP_001395357.1:p.Leu642Pro
  • NP_001395358.1:p.Leu642Pro
  • NP_001395359.1:p.Leu642Pro
  • NP_001395360.1:p.Leu642Pro
  • NP_001395361.1:p.Leu641Pro
  • NP_001395362.1:p.Leu641Pro
  • NP_001395363.1:p.Leu641Pro
  • NP_001395364.1:p.Leu641Pro
  • NP_001395365.1:p.Leu641Pro
  • NP_001395366.1:p.Leu641Pro
  • NP_001395367.1:p.Leu641Pro
  • NP_001395368.1:p.Leu641Pro
  • NP_001395369.1:p.Leu641Pro
  • NP_001395370.1:p.Leu641Pro
  • NP_001395371.1:p.Leu641Pro
  • NP_001395372.1:p.Leu641Pro
  • NP_001395373.1:p.Leu641Pro
  • NP_001395374.1:p.Leu640Pro
  • NP_001395375.1:p.Leu640Pro
  • NP_001395376.1:p.Leu640Pro
  • NP_001395377.1:p.Leu640Pro
  • NP_001395379.1:p.Leu640Pro
  • NP_001395380.1:p.Leu638Pro
  • NP_001395381.1:p.Leu636Pro
  • NP_001395382.1:p.Leu636Pro
  • NP_001395383.1:p.Leu636Pro
  • NP_001395384.1:p.Leu636Pro
  • NP_001395385.1:p.Leu636Pro
  • NP_001395386.1:p.Leu636Pro
  • NP_001395387.1:p.Leu635Pro
  • NP_001395388.1:p.Leu635Pro
  • NP_001395389.1:p.Leu635Pro
  • NP_001395390.1:p.Leu635Pro
  • NP_001395391.1:p.Leu635Pro
  • NP_001395392.1:p.Leu635Pro
  • NP_001395393.1:p.Leu635Pro
  • NP_001395394.1:p.Leu635Pro
  • NP_001395395.1:p.Leu635Pro
  • NP_001395396.1:p.Leu635Pro
  • NP_001395397.1:p.Leu634Pro
  • NP_001395398.1:p.Leu634Pro
  • NP_001395399.1:p.Leu634Pro
  • NP_001395403.1:p.Leu616Pro
  • NP_001395404.1:p.Leu615Pro
  • NP_001395405.1:p.Leu615Pro
  • NP_001395407.1:p.Leu613Pro
  • NP_001395408.1:p.Leu613Pro
  • NP_001395409.1:p.Leu613Pro
  • NP_001395410.1:p.Leu612Pro
  • NP_001395411.1:p.Leu612Pro
  • NP_001395412.1:p.Leu612Pro
  • NP_001395413.1:p.Leu612Pro
  • NP_001395414.1:p.Leu612Pro
  • NP_001395418.1:p.Leu612Pro
  • NP_001395419.1:p.Leu612Pro
  • NP_001395420.1:p.Leu612Pro
  • NP_001395421.1:p.Leu611Pro
  • NP_001395422.1:p.Leu611Pro
  • NP_001395423.1:p.Leu603Pro
  • NP_001395424.1:p.Leu601Pro
  • NP_001395425.1:p.Leu595Pro
  • NP_001395426.1:p.Leu595Pro
  • NP_001395427.1:p.Leu595Pro
  • NP_001395428.1:p.Leu595Pro
  • NP_001395429.1:p.Leu595Pro
  • NP_001395430.1:p.Leu595Pro
  • NP_001395431.1:p.Leu594Pro
  • NP_001395432.1:p.Leu594Pro
  • NP_001395433.1:p.Leu594Pro
  • NP_001395434.1:p.Leu593Pro
  • NP_001395435.1:p.Leu574Pro
  • NP_001395436.1:p.Leu573Pro
  • NP_001395437.1:p.Leu570Pro
  • NP_001395438.1:p.Leu569Pro
  • NP_001395439.1:p.Leu556Pro
  • NP_001395440.1:p.Leu555Pro
  • NP_001395441.1:p.Leu515Pro
  • NP_001395442.1:p.Leu506Pro
  • NP_001395443.1:p.Leu374Pro
  • NP_009225.1:p.Leu1786Pro
  • NP_009225.1:p.Leu1786Pro
  • NP_009228.2:p.Leu1739Pro
  • NP_009229.2:p.Leu682Pro
  • NP_009229.2:p.Leu682Pro
  • NP_009231.2:p.Leu1807Pro
  • NP_009235.2:p.Leu682Pro
  • LRG_292t1:c.5357T>C
  • LRG_292:g.168814T>C
  • LRG_292p1:p.Leu1786Pro
  • NC_000017.10:g.41201187A>G
  • NM_007294.3:c.5357T>C
  • NM_007298.3:c.2045T>C
  • NR_027676.2:n.5534T>C
  • P38398:p.Leu1786Pro
  • U14680.1:n.5476T>C
Nucleotide change:
5476T>C
Protein change:
L1489P
Links:
UniProtKB: P38398#VAR_020704; dbSNP: rs398122697
NCBI 1000 Genomes Browser:
rs398122697
Molecular consequence:
  • NM_007299.4:c.2021-1467T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407571.1:c.5144T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.5423T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.5423T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.5420T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.5420T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.5420T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.5417T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.5417T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.5357T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.5357T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.5357T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.5357T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.5357T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.5357T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.5357T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.5357T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.5354T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.5351T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.5348T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.5348T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.5345T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.5342T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.5300T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.5297T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.5279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.5279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.5279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.5279T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.5276T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.5276T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.5276T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.5273T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.5273T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.5273T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.5273T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.5273T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.5234T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.5234T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.5234T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.5234T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.5234T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.5234T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.5231T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.5231T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.5231T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.5231T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.5231T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.5231T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.5231T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.5231T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.5231T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.5231T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.5231T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.5228T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.5228T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.5228T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.5228T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.5228T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.5228T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.5228T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.5228T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.5225T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.5225T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.5216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.5216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.5216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.5216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.5216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.5216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.5216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.5216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.5216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.5216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.5216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.5216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.5216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.5216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.5213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.5213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.5213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.5213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.5213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.5213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.5213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.5213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.5213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.5213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.5213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.5213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.5213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.5213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.5213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.5213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.5213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.5213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.5213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.5213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.5213T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.5210T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.5210T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.5210T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.5210T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.5210T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.5210T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.5210T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.5210T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.5210T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.5210T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.5210T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.5210T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.5210T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.5210T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.5210T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.5156T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.5153T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.5150T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.5150T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.5147T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.5147T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.5147T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.5147T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.5147T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.5147T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.5147T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.5147T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.5144T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.5144T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.5144T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.5144T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.5144T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.5144T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.5144T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.5144T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.5144T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.5144T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.5144T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.5144T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.5144T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.5144T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.5141T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.5141T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.5141T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.5141T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.5093T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.5093T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.5093T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.5093T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.5093T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.5093T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.5093T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.5090T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.5090T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.5090T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.5090T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.5090T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.5090T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.5090T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.5087T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.5087T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.5087T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.5024T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.5024T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.5024T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.5024T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.5021T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.5021T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.5021T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.5021T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.5021T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.5021T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.5018T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.5018T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.5018T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.4976T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.4973T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.4973T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.4970T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.4895T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.4850T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.4469T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.4466T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2753T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2750T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.2114T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.2114T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.2111T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.2048T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.2048T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.2048T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.2048T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.2048T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.2048T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.2045T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.2045T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.2045T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.2045T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.2045T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.2045T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.2045T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.2045T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.2045T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.2045T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.2045T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.2045T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.2042T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.2042T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.2042T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.2042T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.2042T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.2042T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.2042T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.2042T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.2042T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.2042T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.2039T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.2039T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.2039T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.2036T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.1973T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.1970T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.1967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.1967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.1967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.1967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.1967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.1931T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.1931T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.1931T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.1928T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.1928T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.1928T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.1928T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.1925T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.1925T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.1925T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.1925T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.1925T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.1925T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.1925T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.1922T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.1922T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.1922T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.1922T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.1922T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.1922T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.1922T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.1922T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.1922T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.1922T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.1922T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.1922T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.1922T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.1919T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.1919T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.1919T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.1919T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.1919T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.1913T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.1907T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.1907T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.1907T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.1907T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.1907T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.1907T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.1904T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.1904T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.1904T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.1904T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.1904T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.1904T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.1904T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.1904T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.1904T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.1904T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.1901T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.1901T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.1901T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1847T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1844T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1844T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1838T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1838T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1838T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1835T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1835T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1835T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1835T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1835T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1835T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1835T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1835T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1832T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1832T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1808T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1802T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1784T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1784T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1784T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1784T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1784T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1784T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1781T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1781T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1781T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1778T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1721T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1718T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1709T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1706T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1667T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1664T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1544T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1517T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.1121T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.5357T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.5216T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.2045T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5420T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.2045T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5534T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000607969Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Likely pathogenic
(Apr 13, 2023) 		germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link,

SCV001346185Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 20, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.

Meyer P, Voigtlaender T, Bartram CR, Klaes R.

Hum Mutat. 2003 Sep;22(3):259.

PubMed [citation]
PMID:
12938098

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C, Xie M, Wendl MC, Wang J, McLellan MD, Leiserson MD, Huang KL, Wyczalkowski MA, Jayasinghe R, Banerjee T, Ning J, Tripathi P, Zhang Q, Niu B, Ye K, Schmidt HK, Fulton RS, McMichael JF, Batra P, Kandoth C, Bharadwaj M, Koboldt DC, et al.

Nat Commun. 2015 Dec 22;6:10086. doi: 10.1038/ncomms10086.

PubMed [citation]
PMID:
26689913
PMCID:
PMC4703835
See all PubMed Citations (8)

Details of each submission

From Ambry Genetics, SCV000607969.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (7)

Description

The p.L1786P variant (also known as c.5357T>C), located in coding exon 20 of the BRCA1 gene, results from a T to C substitution at nucleotide position 5357. The leucine at codon 1786 is replaced by proline, an amino acid with similar properties. This alteration has been reported in multiple breast and/or ovarian cancer cohorts (Meyer P et al. Hum. Mutat. 2003 Sep; 22(3):259; Shao D et al. Cancer Sci, 2020 Feb;111:647-657; Wan Q et al. Fam Cancer, 2021 Apr;20:85-95). This alteration was also found to be non-functional in multiple studies (Lu C et al. Nat Commun. 2015 Dec 22;6:10086; Fernandes VC et al. J Biol Chem, 2019 04;294:5980-5992; Zhang H et al. Oncol Lett, 2017 Nov;14:5839-5844; Findlay GM et al. Nature. 2018 10;562:217-222). Based on internal structural assessment, this alteration results in moderate structural disruption of the BRCT domain (Ambry internal data). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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

From Color Diagnostics, LLC DBA Color Health, SCV001346185.2

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

Description

This missense variant replaces leucine with proline at codon 1786 of the BRCA1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). Functional studies have shown the variant protein to be defective in transcriptional activity (PMID: 30765603), homology-directed DNA repair (PMID: 26689913, 32546644) and in a haploid cell proliferation assay (PMID: 30209399). This variant has been reported in individuals and families affected with breast and ovarian cancer (PMID 12938098, 26689913, 29113215, Color internal data). This variant has been identified in 1/251444 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Likely Pathogenic.

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

Last Updated: Mar 30, 2024