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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 16, 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:
RCV001380439.5

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 breast ovarian cancer syndrome
Synonyms:
Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001578519Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Jan 16, 2023)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot 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

Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population.

Meindl A; German Consortium for Hereditary Breast and Ovarian Cancer..

Int J Cancer. 2002 Feb 1;97(4):472-80.

PubMed [citation]
PMID:
11802209
See all PubMed Citations (12)

Details of each submission

From Invitae, SCV001578519.4

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

Description

For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Trp1837 amino acid residue in BRCA1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 8968102, 11802209, 15689452, 27741520, 28324225). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Experimental studies have shown that this missense change affects BRCA1 function (PMID: 14534301, 15133503, 20378548, 20516115, 30209399). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is expected to disrupt BRCA1 function. ClinVar contains an entry for this variant (Variation ID: 55607). This missense change has been observed in individual(s) with clinical features of BRCA1-related conditions (PMID: 16267036). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tryptophan, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 1837 of the BRCA1 protein (p.Trp1837Gly).

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

Last Updated: Jun 23, 2024