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NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Likely pathogenic (4 submissions)
Last evaluated:
Feb 20, 2024
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:
RCV000112688.10

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)
Observations:
2

Condition(s)

Name:
Breast-ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
Synonyms:
OVARIAN CANCER, SUSCEPTIBILITY TO; Breast-ovarian cancer, familial 1; Breast cancer, familial 1
Identifiers:
MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000145557Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Uncertain significance
(Jun 20, 2002)
germlineclinical testing

SCV001243484Brotman Baty Institute, University of Washington
no classification provided
not providednot applicablein vitro

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

Citation Link,

SCV004216879Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Feb 20, 2024)
unknownclinical testing

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

SCV004833986All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely Pathogenic
(Jul 19, 2023)
germlineclinical testing

PubMed (12)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot applicablenot applicablenot providednot providednot providednot providednot providedin vitro
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot provided108544not providedclinical testing
Western Europeangermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Identification of seven new BRCA1 germline mutations in Italian breast and breast/ovarian cancer families.

Montagna M, Santacatterina M, Corneo B, Menin C, Serova O, Lenoir GM, Chieco-Bianchi L, D'Andrea E.

Cancer Res. 1996 Dec 1;56(23):5466-9.

PubMed [citation]
PMID:
8968102

The breast cancer information core: database design, structure, and scope.

Szabo C, Masiello A, Ryan JF, Brody LC.

Hum Mutat. 2000;16(2):123-31.

PubMed [citation]
PMID:
10923033
See all PubMed Citations (12)

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145557.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Western European1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Brotman Baty Institute, University of Washington, SCV001243484.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedin vitro PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not applicablenot applicablenot providednot providednot providednot providednot providednot providednot provided

From Baylor Genetics, SCV004216879.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From All of Us Research Program, National Institutes of Health, SCV004833986.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (12)

Description

This missense variant replaces tryptophan with glycine at codon 1837 of the BRCA1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). Functional studies have reported that this variant abolishes BRCA1 function in phosphopeptide binding, transcription activation, and in a haploid cell proliferation assay, as well as disrupts the folding of the BRCT domain (PMID: 15133503, 20378548, 20516115, 29884841, 30209399). This variant has been reported in individuals who underwent BRCA gene testing (PMID: 10923033, 16267036). Different missense substitutions at this codon have been reported as disease-causing in ClinVar (variation ID: 37679, 37680, 853483, 1065962), and p.Trp1837Arg specifically has been reported in individuals and families affected with breast cancer and reported to segregate with disease in a family (PMID: 8968102, 11802209, 27741520, 28324225). This variant has not been identified 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
1germlineunknown108544not providednot provided1not providednot providednot provided

Last Updated: Jul 15, 2024