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NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 20, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000130013.6

Allele description [Variation Report for NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly)]

NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly)

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.5509T>G (p.Trp1837Gly)
Other names:
NM_007294.4(BRCA1):c.5509T>G
HGVS:
  • NC_000017.11:g.43045761A>C
  • NG_005905.2:g.172223T>G
  • NM_001407571.1:c.5296T>G
  • NM_001407581.1:c.5575T>G
  • NM_001407582.1:c.5575T>G
  • NM_001407583.1:c.5572T>G
  • NM_001407585.1:c.5572T>G
  • NM_001407587.1:c.5572T>G
  • NM_001407590.1:c.5569T>G
  • NM_001407591.1:c.5569T>G
  • NM_001407593.1:c.5509T>G
  • NM_001407594.1:c.5509T>G
  • NM_001407596.1:c.5509T>G
  • NM_001407597.1:c.5509T>G
  • NM_001407598.1:c.5509T>G
  • NM_001407602.1:c.5509T>G
  • NM_001407603.1:c.5509T>G
  • NM_001407605.1:c.5509T>G
  • NM_001407610.1:c.5506T>G
  • NM_001407611.1:c.5506T>G
  • NM_001407612.1:c.5506T>G
  • NM_001407613.1:c.5506T>G
  • NM_001407614.1:c.5506T>G
  • NM_001407615.1:c.5506T>G
  • NM_001407616.1:c.5506T>G
  • NM_001407617.1:c.5506T>G
  • NM_001407618.1:c.5506T>G
  • NM_001407619.1:c.5506T>G
  • NM_001407620.1:c.5506T>G
  • NM_001407621.1:c.5506T>G
  • NM_001407622.1:c.5506T>G
  • NM_001407623.1:c.5506T>G
  • NM_001407624.1:c.5506T>G
  • NM_001407625.1:c.5506T>G
  • NM_001407626.1:c.5506T>G
  • NM_001407627.1:c.5503T>G
  • NM_001407628.1:c.5503T>G
  • NM_001407629.1:c.5503T>G
  • NM_001407630.1:c.5503T>G
  • NM_001407631.1:c.5503T>G
  • NM_001407632.1:c.5503T>G
  • NM_001407633.1:c.5503T>G
  • NM_001407634.1:c.5503T>G
  • NM_001407635.1:c.5503T>G
  • NM_001407636.1:c.5503T>G
  • NM_001407637.1:c.5503T>G
  • NM_001407638.1:c.5503T>G
  • NM_001407639.1:c.5503T>G
  • NM_001407640.1:c.5503T>G
  • NM_001407641.1:c.5503T>G
  • NM_001407642.1:c.5503T>G
  • NM_001407644.1:c.5500T>G
  • NM_001407645.1:c.5500T>G
  • NM_001407646.1:c.5497T>G
  • NM_001407647.1:c.5494T>G
  • NM_001407648.1:c.5452T>G
  • NM_001407649.1:c.5449T>G
  • NM_001407652.1:c.5431T>G
  • NM_001407653.1:c.5431T>G
  • NM_001407654.1:c.5431T>G
  • NM_001407655.1:c.5431T>G
  • NM_001407656.1:c.5428T>G
  • NM_001407657.1:c.5428T>G
  • NM_001407658.1:c.5428T>G
  • NM_001407659.1:c.5425T>G
  • NM_001407660.1:c.5425T>G
  • NM_001407661.1:c.5425T>G
  • NM_001407662.1:c.5425T>G
  • NM_001407663.1:c.5425T>G
  • NM_001407664.1:c.5386T>G
  • NM_001407665.1:c.5386T>G
  • NM_001407666.1:c.5386T>G
  • NM_001407667.1:c.5386T>G
  • NM_001407668.1:c.5386T>G
  • NM_001407669.1:c.5386T>G
  • NM_001407670.1:c.5383T>G
  • NM_001407671.1:c.5383T>G
  • NM_001407672.1:c.5383T>G
  • NM_001407673.1:c.5383T>G
  • NM_001407674.1:c.5383T>G
  • NM_001407675.1:c.5383T>G
  • NM_001407676.1:c.5383T>G
  • NM_001407677.1:c.5383T>G
  • NM_001407678.1:c.5383T>G
  • NM_001407679.1:c.5383T>G
  • NM_001407680.1:c.5383T>G
  • NM_001407681.1:c.5380T>G
  • NM_001407682.1:c.5380T>G
  • NM_001407683.1:c.5380T>G
  • NM_001407684.1:c.5380T>G
  • NM_001407685.1:c.5380T>G
  • NM_001407686.1:c.5380T>G
  • NM_001407687.1:c.5380T>G
  • NM_001407688.1:c.5380T>G
  • NM_001407689.1:c.5380T>G
  • NM_001407690.1:c.5377T>G
  • NM_001407691.1:c.5377T>G
  • NM_001407692.1:c.5368T>G
  • NM_001407694.1:c.5368T>G
  • NM_001407695.1:c.5368T>G
  • NM_001407696.1:c.5368T>G
  • NM_001407697.1:c.5368T>G
  • NM_001407698.1:c.5368T>G
  • NM_001407724.1:c.5368T>G
  • NM_001407725.1:c.5368T>G
  • NM_001407726.1:c.5368T>G
  • NM_001407727.1:c.5368T>G
  • NM_001407728.1:c.5368T>G
  • NM_001407729.1:c.5368T>G
  • NM_001407730.1:c.5368T>G
  • NM_001407731.1:c.5368T>G
  • NM_001407732.1:c.5365T>G
  • NM_001407733.1:c.5365T>G
  • NM_001407734.1:c.5365T>G
  • NM_001407735.1:c.5365T>G
  • NM_001407736.1:c.5365T>G
  • NM_001407737.1:c.5365T>G
  • NM_001407738.1:c.5365T>G
  • NM_001407739.1:c.5365T>G
  • NM_001407740.1:c.5365T>G
  • NM_001407741.1:c.5365T>G
  • NM_001407742.1:c.5365T>G
  • NM_001407743.1:c.5365T>G
  • NM_001407744.1:c.5365T>G
  • NM_001407745.1:c.5365T>G
  • NM_001407746.1:c.5365T>G
  • NM_001407747.1:c.5365T>G
  • NM_001407748.1:c.5365T>G
  • NM_001407749.1:c.5365T>G
  • NM_001407750.1:c.5365T>G
  • NM_001407751.1:c.5365T>G
  • NM_001407752.1:c.5365T>G
  • NM_001407838.1:c.5362T>G
  • NM_001407839.1:c.5362T>G
  • NM_001407841.1:c.5362T>G
  • NM_001407842.1:c.5362T>G
  • NM_001407843.1:c.5362T>G
  • NM_001407844.1:c.5362T>G
  • NM_001407845.1:c.5362T>G
  • NM_001407846.1:c.5362T>G
  • NM_001407847.1:c.5362T>G
  • NM_001407848.1:c.5362T>G
  • NM_001407849.1:c.5362T>G
  • NM_001407850.1:c.5362T>G
  • NM_001407851.1:c.5362T>G
  • NM_001407852.1:c.5362T>G
  • NM_001407853.1:c.5362T>G
  • NM_001407854.1:c.*23T>G
  • NM_001407858.1:c.*23T>G
  • NM_001407859.1:c.*23T>G
  • NM_001407860.1:c.*23T>G
  • NM_001407861.1:c.*23T>G
  • NM_001407862.1:c.5308T>G
  • NM_001407863.1:c.5305T>G
  • NM_001407874.1:c.5302T>G
  • NM_001407875.1:c.5302T>G
  • NM_001407879.1:c.5299T>G
  • NM_001407881.1:c.5299T>G
  • NM_001407882.1:c.5299T>G
  • NM_001407884.1:c.5299T>G
  • NM_001407885.1:c.5299T>G
  • NM_001407886.1:c.5299T>G
  • NM_001407887.1:c.5299T>G
  • NM_001407889.1:c.5299T>G
  • NM_001407894.1:c.5296T>G
  • NM_001407895.1:c.5296T>G
  • NM_001407896.1:c.5296T>G
  • NM_001407897.1:c.5296T>G
  • NM_001407898.1:c.5296T>G
  • NM_001407899.1:c.5296T>G
  • NM_001407900.1:c.5296T>G
  • NM_001407902.1:c.5296T>G
  • NM_001407904.1:c.5296T>G
  • NM_001407906.1:c.5296T>G
  • NM_001407907.1:c.5296T>G
  • NM_001407908.1:c.5296T>G
  • NM_001407909.1:c.5296T>G
  • NM_001407910.1:c.5296T>G
  • NM_001407915.1:c.5293T>G
  • NM_001407916.1:c.5293T>G
  • NM_001407917.1:c.5293T>G
  • NM_001407918.1:c.5293T>G
  • NM_001407919.1:c.5257T>G
  • NM_001407920.1:c.5245T>G
  • NM_001407921.1:c.5245T>G
  • NM_001407922.1:c.5245T>G
  • NM_001407923.1:c.5245T>G
  • NM_001407924.1:c.5245T>G
  • NM_001407925.1:c.5245T>G
  • NM_001407926.1:c.5245T>G
  • NM_001407927.1:c.5242T>G
  • NM_001407928.1:c.5242T>G
  • NM_001407929.1:c.5242T>G
  • NM_001407930.1:c.5242T>G
  • NM_001407931.1:c.5242T>G
  • NM_001407932.1:c.5242T>G
  • NM_001407933.1:c.5242T>G
  • NM_001407934.1:c.5239T>G
  • NM_001407935.1:c.5239T>G
  • NM_001407936.1:c.5239T>G
  • NM_001407937.1:c.*23T>G
  • NM_001407938.1:c.*23T>G
  • NM_001407939.1:c.*23T>G
  • NM_001407940.1:c.*23T>G
  • NM_001407941.1:c.*23T>G
  • NM_001407942.1:c.*23T>G
  • NM_001407943.1:c.*23T>G
  • NM_001407944.1:c.*23T>G
  • NM_001407945.1:c.*23T>G
  • NM_001407946.1:c.5176T>G
  • NM_001407947.1:c.5176T>G
  • NM_001407948.1:c.5176T>G
  • NM_001407949.1:c.5176T>G
  • NM_001407950.1:c.5173T>G
  • NM_001407951.1:c.5173T>G
  • NM_001407952.1:c.5173T>G
  • NM_001407953.1:c.5173T>G
  • NM_001407954.1:c.5173T>G
  • NM_001407955.1:c.5173T>G
  • NM_001407956.1:c.5170T>G
  • NM_001407957.1:c.5170T>G
  • NM_001407958.1:c.5170T>G
  • NM_001407959.1:c.5128T>G
  • NM_001407960.1:c.5125T>G
  • NM_001407962.1:c.5125T>G
  • NM_001407963.1:c.5122T>G
  • NM_001407964.1:c.5047T>G
  • NM_001407965.1:c.5002T>G
  • NM_001407966.1:c.4621T>G
  • NM_001407967.1:c.4618T>G
  • NM_001407968.1:c.2905T>G
  • NM_001407969.1:c.2902T>G
  • NM_001407970.1:c.2266T>G
  • NM_001407971.1:c.2266T>G
  • NM_001407972.1:c.2263T>G
  • NM_001407973.1:c.2200T>G
  • NM_001407974.1:c.2200T>G
  • NM_001407975.1:c.2200T>G
  • NM_001407976.1:c.2200T>G
  • NM_001407977.1:c.2200T>G
  • NM_001407978.1:c.2200T>G
  • NM_001407979.1:c.2197T>G
  • NM_001407980.1:c.2197T>G
  • NM_001407981.1:c.2197T>G
  • NM_001407982.1:c.2197T>G
  • NM_001407983.1:c.2197T>G
  • NM_001407984.1:c.2197T>G
  • NM_001407985.1:c.2197T>G
  • NM_001407986.1:c.2197T>G
  • NM_001407990.1:c.2197T>G
  • NM_001407991.1:c.2197T>G
  • NM_001407992.1:c.2197T>G
  • NM_001407993.1:c.2197T>G
  • NM_001408392.1:c.2194T>G
  • NM_001408396.1:c.2194T>G
  • NM_001408397.1:c.2194T>G
  • NM_001408398.1:c.2194T>G
  • NM_001408399.1:c.2194T>G
  • NM_001408400.1:c.2194T>G
  • NM_001408401.1:c.2194T>G
  • NM_001408402.1:c.2194T>G
  • NM_001408403.1:c.2194T>G
  • NM_001408404.1:c.2194T>G
  • NM_001408406.1:c.2191T>G
  • NM_001408407.1:c.2191T>G
  • NM_001408408.1:c.2191T>G
  • NM_001408409.1:c.2188T>G
  • NM_001408410.1:c.2125T>G
  • NM_001408411.1:c.2122T>G
  • NM_001408412.1:c.2119T>G
  • NM_001408413.1:c.2119T>G
  • NM_001408414.1:c.2119T>G
  • NM_001408415.1:c.2119T>G
  • NM_001408416.1:c.2119T>G
  • NM_001408418.1:c.2083T>G
  • NM_001408419.1:c.2083T>G
  • NM_001408420.1:c.2083T>G
  • NM_001408421.1:c.2080T>G
  • NM_001408422.1:c.2080T>G
  • NM_001408423.1:c.2080T>G
  • NM_001408424.1:c.2080T>G
  • NM_001408425.1:c.2077T>G
  • NM_001408426.1:c.2077T>G
  • NM_001408427.1:c.2077T>G
  • NM_001408428.1:c.2077T>G
  • NM_001408429.1:c.2077T>G
  • NM_001408430.1:c.2077T>G
  • NM_001408431.1:c.2077T>G
  • NM_001408432.1:c.2074T>G
  • NM_001408433.1:c.2074T>G
  • NM_001408434.1:c.2074T>G
  • NM_001408435.1:c.2074T>G
  • NM_001408436.1:c.2074T>G
  • NM_001408437.1:c.2074T>G
  • NM_001408438.1:c.2074T>G
  • NM_001408439.1:c.2074T>G
  • NM_001408440.1:c.2074T>G
  • NM_001408441.1:c.2074T>G
  • NM_001408442.1:c.2074T>G
  • NM_001408443.1:c.2074T>G
  • NM_001408444.1:c.2074T>G
  • NM_001408445.1:c.2071T>G
  • NM_001408446.1:c.2071T>G
  • NM_001408447.1:c.2071T>G
  • NM_001408448.1:c.2071T>G
  • NM_001408450.1:c.2071T>G
  • NM_001408451.1:c.2065T>G
  • NM_001408452.1:c.2059T>G
  • NM_001408453.1:c.2059T>G
  • NM_001408454.1:c.2059T>G
  • NM_001408455.1:c.2059T>G
  • NM_001408456.1:c.2059T>G
  • NM_001408457.1:c.2059T>G
  • NM_001408458.1:c.2056T>G
  • NM_001408459.1:c.2056T>G
  • NM_001408460.1:c.2056T>G
  • NM_001408461.1:c.2056T>G
  • NM_001408462.1:c.2056T>G
  • NM_001408463.1:c.2056T>G
  • NM_001408464.1:c.2056T>G
  • NM_001408465.1:c.2056T>G
  • NM_001408466.1:c.2056T>G
  • NM_001408467.1:c.2056T>G
  • NM_001408468.1:c.2053T>G
  • NM_001408469.1:c.2053T>G
  • NM_001408470.1:c.2053T>G
  • NM_001408472.1:c.*23T>G
  • NM_001408473.1:c.*23T>G
  • NM_001408474.1:c.1999T>G
  • NM_001408475.1:c.1996T>G
  • NM_001408476.1:c.1996T>G
  • NM_001408478.1:c.1990T>G
  • NM_001408479.1:c.1990T>G
  • NM_001408480.1:c.1990T>G
  • NM_001408481.1:c.1987T>G
  • NM_001408482.1:c.1987T>G
  • NM_001408483.1:c.1987T>G
  • NM_001408484.1:c.1987T>G
  • NM_001408485.1:c.1987T>G
  • NM_001408489.1:c.1987T>G
  • NM_001408490.1:c.1987T>G
  • NM_001408491.1:c.1987T>G
  • NM_001408492.1:c.1984T>G
  • NM_001408493.1:c.1984T>G
  • NM_001408494.1:c.1960T>G
  • NM_001408495.1:c.1954T>G
  • NM_001408496.1:c.1936T>G
  • NM_001408497.1:c.1936T>G
  • NM_001408498.1:c.1936T>G
  • NM_001408499.1:c.1936T>G
  • NM_001408500.1:c.1936T>G
  • NM_001408501.1:c.1936T>G
  • NM_001408502.1:c.1933T>G
  • NM_001408503.1:c.1933T>G
  • NM_001408504.1:c.1933T>G
  • NM_001408505.1:c.1930T>G
  • NM_001408506.1:c.1873T>G
  • NM_001408507.1:c.1870T>G
  • NM_001408508.1:c.1861T>G
  • NM_001408509.1:c.1858T>G
  • NM_001408510.1:c.1819T>G
  • NM_001408511.1:c.1816T>G
  • NM_001408512.1:c.1696T>G
  • NM_001408513.1:c.1669T>G
  • NM_001408514.1:c.1273T>G
  • NM_007294.4:c.5509T>GMANE SELECT
  • NM_007297.4:c.5368T>G
  • NM_007298.4:c.2197T>G
  • NM_007299.4:c.*23T>G
  • NM_007300.4:c.5572T>G
  • NM_007304.2:c.2197T>G
  • NP_001394500.1:p.Trp1766Gly
  • NP_001394510.1:p.Trp1859Gly
  • NP_001394511.1:p.Trp1859Gly
  • NP_001394512.1:p.Trp1858Gly
  • NP_001394514.1:p.Trp1858Gly
  • NP_001394516.1:p.Trp1858Gly
  • NP_001394519.1:p.Trp1857Gly
  • NP_001394520.1:p.Trp1857Gly
  • NP_001394522.1:p.Trp1837Gly
  • NP_001394523.1:p.Trp1837Gly
  • NP_001394525.1:p.Trp1837Gly
  • NP_001394526.1:p.Trp1837Gly
  • NP_001394527.1:p.Trp1837Gly
  • NP_001394531.1:p.Trp1837Gly
  • NP_001394532.1:p.Trp1837Gly
  • NP_001394534.1:p.Trp1837Gly
  • NP_001394539.1:p.Trp1836Gly
  • NP_001394540.1:p.Trp1836Gly
  • NP_001394541.1:p.Trp1836Gly
  • NP_001394542.1:p.Trp1836Gly
  • NP_001394543.1:p.Trp1836Gly
  • NP_001394544.1:p.Trp1836Gly
  • NP_001394545.1:p.Trp1836Gly
  • NP_001394546.1:p.Trp1836Gly
  • NP_001394547.1:p.Trp1836Gly
  • NP_001394548.1:p.Trp1836Gly
  • NP_001394549.1:p.Trp1836Gly
  • NP_001394550.1:p.Trp1836Gly
  • NP_001394551.1:p.Trp1836Gly
  • NP_001394552.1:p.Trp1836Gly
  • NP_001394553.1:p.Trp1836Gly
  • NP_001394554.1:p.Trp1836Gly
  • NP_001394555.1:p.Trp1836Gly
  • NP_001394556.1:p.Trp1835Gly
  • NP_001394557.1:p.Trp1835Gly
  • NP_001394558.1:p.Trp1835Gly
  • NP_001394559.1:p.Trp1835Gly
  • NP_001394560.1:p.Trp1835Gly
  • NP_001394561.1:p.Trp1835Gly
  • NP_001394562.1:p.Trp1835Gly
  • NP_001394563.1:p.Trp1835Gly
  • NP_001394564.1:p.Trp1835Gly
  • NP_001394565.1:p.Trp1835Gly
  • NP_001394566.1:p.Trp1835Gly
  • NP_001394567.1:p.Trp1835Gly
  • NP_001394568.1:p.Trp1835Gly
  • NP_001394569.1:p.Trp1835Gly
  • NP_001394570.1:p.Trp1835Gly
  • NP_001394571.1:p.Trp1835Gly
  • NP_001394573.1:p.Trp1834Gly
  • NP_001394574.1:p.Trp1834Gly
  • NP_001394575.1:p.Trp1833Gly
  • NP_001394576.1:p.Trp1832Gly
  • NP_001394577.1:p.Trp1818Gly
  • NP_001394578.1:p.Trp1817Gly
  • NP_001394581.1:p.Trp1811Gly
  • NP_001394582.1:p.Trp1811Gly
  • NP_001394583.1:p.Trp1811Gly
  • NP_001394584.1:p.Trp1811Gly
  • NP_001394585.1:p.Trp1810Gly
  • NP_001394586.1:p.Trp1810Gly
  • NP_001394587.1:p.Trp1810Gly
  • NP_001394588.1:p.Trp1809Gly
  • NP_001394589.1:p.Trp1809Gly
  • NP_001394590.1:p.Trp1809Gly
  • NP_001394591.1:p.Trp1809Gly
  • NP_001394592.1:p.Trp1809Gly
  • NP_001394593.1:p.Trp1796Gly
  • NP_001394594.1:p.Trp1796Gly
  • NP_001394595.1:p.Trp1796Gly
  • NP_001394596.1:p.Trp1796Gly
  • NP_001394597.1:p.Trp1796Gly
  • NP_001394598.1:p.Trp1796Gly
  • NP_001394599.1:p.Trp1795Gly
  • NP_001394600.1:p.Trp1795Gly
  • NP_001394601.1:p.Trp1795Gly
  • NP_001394602.1:p.Trp1795Gly
  • NP_001394603.1:p.Trp1795Gly
  • NP_001394604.1:p.Trp1795Gly
  • NP_001394605.1:p.Trp1795Gly
  • NP_001394606.1:p.Trp1795Gly
  • NP_001394607.1:p.Trp1795Gly
  • NP_001394608.1:p.Trp1795Gly
  • NP_001394609.1:p.Trp1795Gly
  • NP_001394610.1:p.Trp1794Gly
  • NP_001394611.1:p.Trp1794Gly
  • NP_001394612.1:p.Trp1794Gly
  • NP_001394613.1:p.Trp1794Gly
  • NP_001394614.1:p.Trp1794Gly
  • NP_001394615.1:p.Trp1794Gly
  • NP_001394616.1:p.Trp1794Gly
  • NP_001394617.1:p.Trp1794Gly
  • NP_001394618.1:p.Trp1794Gly
  • NP_001394619.1:p.Trp1793Gly
  • NP_001394620.1:p.Trp1793Gly
  • NP_001394621.1:p.Trp1790Gly
  • NP_001394623.1:p.Trp1790Gly
  • NP_001394624.1:p.Trp1790Gly
  • NP_001394625.1:p.Trp1790Gly
  • NP_001394626.1:p.Trp1790Gly
  • NP_001394627.1:p.Trp1790Gly
  • NP_001394653.1:p.Trp1790Gly
  • NP_001394654.1:p.Trp1790Gly
  • NP_001394655.1:p.Trp1790Gly
  • NP_001394656.1:p.Trp1790Gly
  • NP_001394657.1:p.Trp1790Gly
  • NP_001394658.1:p.Trp1790Gly
  • NP_001394659.1:p.Trp1790Gly
  • NP_001394660.1:p.Trp1790Gly
  • NP_001394661.1:p.Trp1789Gly
  • NP_001394662.1:p.Trp1789Gly
  • NP_001394663.1:p.Trp1789Gly
  • NP_001394664.1:p.Trp1789Gly
  • NP_001394665.1:p.Trp1789Gly
  • NP_001394666.1:p.Trp1789Gly
  • NP_001394667.1:p.Trp1789Gly
  • NP_001394668.1:p.Trp1789Gly
  • NP_001394669.1:p.Trp1789Gly
  • NP_001394670.1:p.Trp1789Gly
  • NP_001394671.1:p.Trp1789Gly
  • NP_001394672.1:p.Trp1789Gly
  • NP_001394673.1:p.Trp1789Gly
  • NP_001394674.1:p.Trp1789Gly
  • NP_001394675.1:p.Trp1789Gly
  • NP_001394676.1:p.Trp1789Gly
  • NP_001394677.1:p.Trp1789Gly
  • NP_001394678.1:p.Trp1789Gly
  • NP_001394679.1:p.Trp1789Gly
  • NP_001394680.1:p.Trp1789Gly
  • NP_001394681.1:p.Trp1789Gly
  • NP_001394767.1:p.Trp1788Gly
  • NP_001394768.1:p.Trp1788Gly
  • NP_001394770.1:p.Trp1788Gly
  • NP_001394771.1:p.Trp1788Gly
  • NP_001394772.1:p.Trp1788Gly
  • NP_001394773.1:p.Trp1788Gly
  • NP_001394774.1:p.Trp1788Gly
  • NP_001394775.1:p.Trp1788Gly
  • NP_001394776.1:p.Trp1788Gly
  • NP_001394777.1:p.Trp1788Gly
  • NP_001394778.1:p.Trp1788Gly
  • NP_001394779.1:p.Trp1788Gly
  • NP_001394780.1:p.Trp1788Gly
  • NP_001394781.1:p.Trp1788Gly
  • NP_001394782.1:p.Trp1788Gly
  • NP_001394791.1:p.Trp1770Gly
  • NP_001394792.1:p.Trp1769Gly
  • NP_001394803.1:p.Trp1768Gly
  • NP_001394804.1:p.Trp1768Gly
  • NP_001394808.1:p.Trp1767Gly
  • NP_001394810.1:p.Trp1767Gly
  • NP_001394811.1:p.Trp1767Gly
  • NP_001394813.1:p.Trp1767Gly
  • NP_001394814.1:p.Trp1767Gly
  • NP_001394815.1:p.Trp1767Gly
  • NP_001394816.1:p.Trp1767Gly
  • NP_001394818.1:p.Trp1767Gly
  • NP_001394823.1:p.Trp1766Gly
  • NP_001394824.1:p.Trp1766Gly
  • NP_001394825.1:p.Trp1766Gly
  • NP_001394826.1:p.Trp1766Gly
  • NP_001394827.1:p.Trp1766Gly
  • NP_001394828.1:p.Trp1766Gly
  • NP_001394829.1:p.Trp1766Gly
  • NP_001394831.1:p.Trp1766Gly
  • NP_001394833.1:p.Trp1766Gly
  • NP_001394835.1:p.Trp1766Gly
  • NP_001394836.1:p.Trp1766Gly
  • NP_001394837.1:p.Trp1766Gly
  • NP_001394838.1:p.Trp1766Gly
  • NP_001394839.1:p.Trp1766Gly
  • NP_001394844.1:p.Trp1765Gly
  • NP_001394845.1:p.Trp1765Gly
  • NP_001394846.1:p.Trp1765Gly
  • NP_001394847.1:p.Trp1765Gly
  • NP_001394848.1:p.Trp1753Gly
  • NP_001394849.1:p.Trp1749Gly
  • NP_001394850.1:p.Trp1749Gly
  • NP_001394851.1:p.Trp1749Gly
  • NP_001394852.1:p.Trp1749Gly
  • NP_001394853.1:p.Trp1749Gly
  • NP_001394854.1:p.Trp1749Gly
  • NP_001394855.1:p.Trp1749Gly
  • NP_001394856.1:p.Trp1748Gly
  • NP_001394857.1:p.Trp1748Gly
  • NP_001394858.1:p.Trp1748Gly
  • NP_001394859.1:p.Trp1748Gly
  • NP_001394860.1:p.Trp1748Gly
  • NP_001394861.1:p.Trp1748Gly
  • NP_001394862.1:p.Trp1748Gly
  • NP_001394863.1:p.Trp1747Gly
  • NP_001394864.1:p.Trp1747Gly
  • NP_001394865.1:p.Trp1747Gly
  • NP_001394875.1:p.Trp1726Gly
  • NP_001394876.1:p.Trp1726Gly
  • NP_001394877.1:p.Trp1726Gly
  • NP_001394878.1:p.Trp1726Gly
  • NP_001394879.1:p.Trp1725Gly
  • NP_001394880.1:p.Trp1725Gly
  • NP_001394881.1:p.Trp1725Gly
  • NP_001394882.1:p.Trp1725Gly
  • NP_001394883.1:p.Trp1725Gly
  • NP_001394884.1:p.Trp1725Gly
  • NP_001394885.1:p.Trp1724Gly
  • NP_001394886.1:p.Trp1724Gly
  • NP_001394887.1:p.Trp1724Gly
  • NP_001394888.1:p.Trp1710Gly
  • NP_001394889.1:p.Trp1709Gly
  • NP_001394891.1:p.Trp1709Gly
  • NP_001394892.1:p.Trp1708Gly
  • NP_001394893.1:p.Trp1683Gly
  • NP_001394894.1:p.Trp1668Gly
  • NP_001394895.1:p.Trp1541Gly
  • NP_001394896.1:p.Trp1540Gly
  • NP_001394897.1:p.Trp969Gly
  • NP_001394898.1:p.Trp968Gly
  • NP_001394899.1:p.Trp756Gly
  • NP_001394900.1:p.Trp756Gly
  • NP_001394901.1:p.Trp755Gly
  • NP_001394902.1:p.Trp734Gly
  • NP_001394903.1:p.Trp734Gly
  • NP_001394904.1:p.Trp734Gly
  • NP_001394905.1:p.Trp734Gly
  • NP_001394906.1:p.Trp734Gly
  • NP_001394907.1:p.Trp734Gly
  • NP_001394908.1:p.Trp733Gly
  • NP_001394909.1:p.Trp733Gly
  • NP_001394910.1:p.Trp733Gly
  • NP_001394911.1:p.Trp733Gly
  • NP_001394912.1:p.Trp733Gly
  • NP_001394913.1:p.Trp733Gly
  • NP_001394914.1:p.Trp733Gly
  • NP_001394915.1:p.Trp733Gly
  • NP_001394919.1:p.Trp733Gly
  • NP_001394920.1:p.Trp733Gly
  • NP_001394921.1:p.Trp733Gly
  • NP_001394922.1:p.Trp733Gly
  • NP_001395321.1:p.Trp732Gly
  • NP_001395325.1:p.Trp732Gly
  • NP_001395326.1:p.Trp732Gly
  • NP_001395327.1:p.Trp732Gly
  • NP_001395328.1:p.Trp732Gly
  • NP_001395329.1:p.Trp732Gly
  • NP_001395330.1:p.Trp732Gly
  • NP_001395331.1:p.Trp732Gly
  • NP_001395332.1:p.Trp732Gly
  • NP_001395333.1:p.Trp732Gly
  • NP_001395335.1:p.Trp731Gly
  • NP_001395336.1:p.Trp731Gly
  • NP_001395337.1:p.Trp731Gly
  • NP_001395338.1:p.Trp730Gly
  • NP_001395339.1:p.Trp709Gly
  • NP_001395340.1:p.Trp708Gly
  • NP_001395341.1:p.Trp707Gly
  • NP_001395342.1:p.Trp707Gly
  • NP_001395343.1:p.Trp707Gly
  • NP_001395344.1:p.Trp707Gly
  • NP_001395345.1:p.Trp707Gly
  • NP_001395347.1:p.Trp695Gly
  • NP_001395348.1:p.Trp695Gly
  • NP_001395349.1:p.Trp695Gly
  • NP_001395350.1:p.Trp694Gly
  • NP_001395351.1:p.Trp694Gly
  • NP_001395352.1:p.Trp694Gly
  • NP_001395353.1:p.Trp694Gly
  • NP_001395354.1:p.Trp693Gly
  • NP_001395355.1:p.Trp693Gly
  • NP_001395356.1:p.Trp693Gly
  • NP_001395357.1:p.Trp693Gly
  • NP_001395358.1:p.Trp693Gly
  • NP_001395359.1:p.Trp693Gly
  • NP_001395360.1:p.Trp693Gly
  • NP_001395361.1:p.Trp692Gly
  • NP_001395362.1:p.Trp692Gly
  • NP_001395363.1:p.Trp692Gly
  • NP_001395364.1:p.Trp692Gly
  • NP_001395365.1:p.Trp692Gly
  • NP_001395366.1:p.Trp692Gly
  • NP_001395367.1:p.Trp692Gly
  • NP_001395368.1:p.Trp692Gly
  • NP_001395369.1:p.Trp692Gly
  • NP_001395370.1:p.Trp692Gly
  • NP_001395371.1:p.Trp692Gly
  • NP_001395372.1:p.Trp692Gly
  • NP_001395373.1:p.Trp692Gly
  • NP_001395374.1:p.Trp691Gly
  • NP_001395375.1:p.Trp691Gly
  • NP_001395376.1:p.Trp691Gly
  • NP_001395377.1:p.Trp691Gly
  • NP_001395379.1:p.Trp691Gly
  • NP_001395380.1:p.Trp689Gly
  • NP_001395381.1:p.Trp687Gly
  • NP_001395382.1:p.Trp687Gly
  • NP_001395383.1:p.Trp687Gly
  • NP_001395384.1:p.Trp687Gly
  • NP_001395385.1:p.Trp687Gly
  • NP_001395386.1:p.Trp687Gly
  • NP_001395387.1:p.Trp686Gly
  • NP_001395388.1:p.Trp686Gly
  • NP_001395389.1:p.Trp686Gly
  • NP_001395390.1:p.Trp686Gly
  • NP_001395391.1:p.Trp686Gly
  • NP_001395392.1:p.Trp686Gly
  • NP_001395393.1:p.Trp686Gly
  • NP_001395394.1:p.Trp686Gly
  • NP_001395395.1:p.Trp686Gly
  • NP_001395396.1:p.Trp686Gly
  • NP_001395397.1:p.Trp685Gly
  • NP_001395398.1:p.Trp685Gly
  • NP_001395399.1:p.Trp685Gly
  • NP_001395403.1:p.Trp667Gly
  • NP_001395404.1:p.Trp666Gly
  • NP_001395405.1:p.Trp666Gly
  • NP_001395407.1:p.Trp664Gly
  • NP_001395408.1:p.Trp664Gly
  • NP_001395409.1:p.Trp664Gly
  • NP_001395410.1:p.Trp663Gly
  • NP_001395411.1:p.Trp663Gly
  • NP_001395412.1:p.Trp663Gly
  • NP_001395413.1:p.Trp663Gly
  • NP_001395414.1:p.Trp663Gly
  • NP_001395418.1:p.Trp663Gly
  • NP_001395419.1:p.Trp663Gly
  • NP_001395420.1:p.Trp663Gly
  • NP_001395421.1:p.Trp662Gly
  • NP_001395422.1:p.Trp662Gly
  • NP_001395423.1:p.Trp654Gly
  • NP_001395424.1:p.Trp652Gly
  • NP_001395425.1:p.Trp646Gly
  • NP_001395426.1:p.Trp646Gly
  • NP_001395427.1:p.Trp646Gly
  • NP_001395428.1:p.Trp646Gly
  • NP_001395429.1:p.Trp646Gly
  • NP_001395430.1:p.Trp646Gly
  • NP_001395431.1:p.Trp645Gly
  • NP_001395432.1:p.Trp645Gly
  • NP_001395433.1:p.Trp645Gly
  • NP_001395434.1:p.Trp644Gly
  • NP_001395435.1:p.Trp625Gly
  • NP_001395436.1:p.Trp624Gly
  • NP_001395437.1:p.Trp621Gly
  • NP_001395438.1:p.Trp620Gly
  • NP_001395439.1:p.Trp607Gly
  • NP_001395440.1:p.Trp606Gly
  • NP_001395441.1:p.Trp566Gly
  • NP_001395442.1:p.Trp557Gly
  • NP_001395443.1:p.Trp425Gly
  • NP_009225.1:p.Trp1837Gly
  • NP_009225.1:p.Trp1837Gly
  • NP_009228.2:p.Trp1790Gly
  • NP_009229.2:p.Trp733Gly
  • NP_009229.2:p.Trp733Gly
  • NP_009231.2:p.Trp1858Gly
  • NP_009235.2:p.Trp733Gly
  • LRG_292t1:c.5509T>G
  • LRG_292:g.172223T>G
  • LRG_292p1:p.Trp1837Gly
  • NC_000017.10:g.41197778A>C
  • NM_007294.3:c.5509T>G
  • NM_007298.3:c.2197T>G
  • NR_027676.2:n.5686T>G
  • U14680.1:n.5628T>G
  • p.W1837G
Protein change:
W1540G
Links:
dbSNP: rs80356959
NCBI 1000 Genomes Browser:
rs80356959
Molecular consequence:
  • NM_007299.4:c.*23T>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001407571.1:c.5296T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.5575T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.5575T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.5572T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.5572T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.5572T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.5569T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.5569T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.5509T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.5509T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.5509T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.5509T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.5509T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.5509T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.5509T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.5509T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.5506T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.5506T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.5506T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.5506T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.5506T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.5506T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.5506T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.5506T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.5506T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.5506T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.5506T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.5506T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.5506T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.5506T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.5506T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.5506T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.5506T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.5503T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.5503T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.5503T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.5503T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.5503T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.5503T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.5503T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.5503T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.5503T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.5503T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.5503T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.5503T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.5503T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.5503T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.5503T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.5503T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.5500T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.5500T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.5497T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.5494T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.5452T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.5449T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.5431T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.5431T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.5431T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.5431T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.5428T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.5428T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.5428T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.5425T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.5425T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.5425T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.5425T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.5425T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.5386T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.5386T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.5386T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.5386T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.5386T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.5386T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.5383T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.5383T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.5383T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.5383T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.5383T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.5383T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.5383T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.5383T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.5383T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.5383T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.5383T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.5380T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.5380T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.5380T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.5380T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.5380T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.5380T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.5380T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.5380T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.5380T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.5377T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.5377T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.5368T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.5368T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.5368T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.5368T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.5368T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.5368T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.5368T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.5368T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.5368T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.5368T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.5368T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.5368T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.5368T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.5368T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.5365T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.5365T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.5365T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.5365T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.5365T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.5365T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.5365T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.5365T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.5365T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.5365T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.5365T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.5365T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.5365T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.5365T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.5365T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.5365T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.5365T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.5365T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.5365T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.5365T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.5365T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.5362T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.5362T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.5362T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.5362T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.5362T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.5362T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.5362T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.5362T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.5362T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.5362T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.5362T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.5362T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.5362T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.5362T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.5362T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.5308T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.5305T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.5302T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.5302T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.5299T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.5299T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.5299T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.5299T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.5299T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.5299T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.5299T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.5299T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.5296T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.5296T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.5296T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.5296T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.5296T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.5296T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.5296T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.5296T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.5296T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.5296T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.5296T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.5296T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.5296T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.5296T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.5293T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.5293T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.5293T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.5293T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.5257T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.5245T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.5245T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.5245T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.5245T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.5245T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.5245T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.5245T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.5242T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.5242T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.5242T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.5242T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.5242T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.5242T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.5242T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.5239T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.5239T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.5239T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.5176T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.5176T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.5176T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.5176T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.5173T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.5173T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.5173T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.5173T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.5173T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.5173T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.5170T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.5170T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.5170T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.5128T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.5125T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.5125T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.5122T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.5047T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.5002T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.4621T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.4618T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2905T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2902T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.2266T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.2266T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.2263T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.2200T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.2200T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.2200T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.2200T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.2200T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.2200T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.2197T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.2197T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.2197T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.2197T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.2197T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.2197T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.2197T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.2197T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.2197T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.2197T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.2197T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.2197T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.2194T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.2194T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.2194T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.2194T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.2194T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.2194T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.2194T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.2194T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.2194T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.2194T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.2191T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.2191T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.2191T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.2188T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.2125T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.2122T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.2119T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.2119T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.2119T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.2119T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.2119T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.2083T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.2083T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.2083T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.2080T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.2080T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.2080T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.2080T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.2077T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.2077T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.2077T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.2077T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.2077T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.2077T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.2077T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.2074T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.2074T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.2074T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.2074T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.2074T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.2074T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.2074T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.2074T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.2074T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.2074T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.2074T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.2074T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.2074T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.2071T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.2071T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.2071T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.2071T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.2071T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.2065T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.2059T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.2059T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.2059T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.2059T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.2059T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.2059T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.2056T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.2056T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.2056T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.2056T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.2056T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.2056T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.2056T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.2056T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.2056T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.2056T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.2053T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.2053T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.2053T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.1999T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.1996T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.1996T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.1990T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.1990T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.1990T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1987T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1987T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1987T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1987T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1987T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1987T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1987T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1987T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1984T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1984T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1960T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1954T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1936T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1936T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1936T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1936T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1936T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1936T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1933T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1933T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1933T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1930T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1873T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1870T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1861T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1858T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1819T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1816T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1696T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1669T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.1273T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.5509T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.5368T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.2197T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5572T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.2197T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5686T>G - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000184838Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Pathogenic
(Nov 20, 2023)
germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1.

Williams RS, Lee MS, Hau DD, Glover JN.

Nat Struct Mol Biol. 2004 Jun;11(6):519-25. Epub 2004 May 9.

PubMed [citation]
PMID:
15133503

Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition.

Mirkovic N, Marti-Renom MA, Weber BL, Sali A, Monteiro AN.

Cancer Res. 2004 Jun 1;64(11):3790-7.

PubMed [citation]
PMID:
15172985
See all PubMed Citations (8)

Details of each submission

From Ambry Genetics, SCV000184838.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)

Description

The p.W1837G variant (also known as c.5509T>G), located in coding exon 22 of the BRCA1 gene, results from a T to G substitution at nucleotide position 5509. The tryptophan at codon 1837 is replaced by glycine, an amino acid with highly dissimilar properties. This alteration is located in the BRCT domain of BRCA1. The tandem BRCA1 BRCT domain-phosphopeptide complex is involved in the DNA damage response in BRCA1 and alterations in this region which result in loss of phosphopeptide binding or weak binding abrogate BRCA1-BACH1 interaction and are responsible for cancer predisposition (Clapperton JA et al. Nat Struct Mol Biol. 2004 Jun;11(6):512-8). A peptide binding assay demonstrated that the p.W1837G alteration shows no detectable binding to biotinylated pSer-X-X-Phe peptides (Williams RS et al. Nat Struct Mol Biol. 2004 Jun;11(6):519-25). This alteration is structurally destabilizing and would result in a void within the BRCT domain (Williams RS et al. Nat Struct Mol Biol. 2004 Jun;11(6):519-25). A thermodynamic protein stability assay demonstrated that this alteration did not result in a stable protein but, rather, resulted in inclusion bodies, and was, in fact, classified as “very destabilizing” (Rowling PJ et al. J Biol Chem. 2010 Jun 25;285(26):20080-7). One functional study found that this nucleotide substitution is non-functional in a high throughput genome editing haploid cell survival assay (Findlay GM et al. Nature, 2018 Oct;562:217-222). In addition, other functional assays confirm that the alteration is destabilizing and may cause a folding defect and predict a moderate functional impact that may increase cancer risk (Glover JN et al. Fam Cancer. 2006;5(1):89-93; Lee MS et al. Cancer Res. 2010 Jun 15;70(12):4880-90). Another alteration at the same codon, p.W1837R, has been described in individuals with personal and/or family histories consistent with hereditary breast and ovarian cancer (HBOC) syndrome (Montagna M et al. Cancer Res. 1996;56:5466-9; Fernandes GC et al. Oncotarget. 2016 Dec;7:80465-80481), and has also been predicted to be likely pathogenic and deleterious in several functional studies (Williams RS et al. J. Biol. Chem. 2003; 278:53007-16; Abkevich V et al. J. Med. Genet. 2004;41:492-507; Mirkovic N et al. Cancer Res. 2004 Jun;64:3790-7; Karchin R et al. PLoS Comput. Biol. 2007;3:e26; Lee MS et al. Cancer Res. 2010;70:4880-90; Bouwman P et al. Cancer Discov. 2013 Oct;3(10):1142-55; Gaiser OJ et al. Biochemistry. 2004 Dec;43:15983-95). Of note, this alteration is also designated as 5628T>G in published literature. 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 supporting evidence, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Jul 15, 2024