NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Feb 5, 2024
- Review status:
- 2 stars out of maximum of 4 starscriteria provided, multiple submitters, no conflicts
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV000779893.15
Allele description [Variation Report for NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg)]
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg)
- 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>C (p.Trp1837Arg)
- HGVS:
- NC_000017.11:g.43045761A>G
- NG_005905.2:g.172223T>C
- NM_001407571.1:c.5296T>C
- NM_001407581.1:c.5575T>C
- NM_001407582.1:c.5575T>C
- NM_001407583.1:c.5572T>C
- NM_001407585.1:c.5572T>C
- NM_001407587.1:c.5572T>C
- NM_001407590.1:c.5569T>C
- NM_001407591.1:c.5569T>C
- NM_001407593.1:c.5509T>C
- NM_001407594.1:c.5509T>C
- NM_001407596.1:c.5509T>C
- NM_001407597.1:c.5509T>C
- NM_001407598.1:c.5509T>C
- NM_001407602.1:c.5509T>C
- NM_001407603.1:c.5509T>C
- NM_001407605.1:c.5509T>C
- NM_001407610.1:c.5506T>C
- NM_001407611.1:c.5506T>C
- NM_001407612.1:c.5506T>C
- NM_001407613.1:c.5506T>C
- NM_001407614.1:c.5506T>C
- NM_001407615.1:c.5506T>C
- NM_001407616.1:c.5506T>C
- NM_001407617.1:c.5506T>C
- NM_001407618.1:c.5506T>C
- NM_001407619.1:c.5506T>C
- NM_001407620.1:c.5506T>C
- NM_001407621.1:c.5506T>C
- NM_001407622.1:c.5506T>C
- NM_001407623.1:c.5506T>C
- NM_001407624.1:c.5506T>C
- NM_001407625.1:c.5506T>C
- NM_001407626.1:c.5506T>C
- NM_001407627.1:c.5503T>C
- NM_001407628.1:c.5503T>C
- NM_001407629.1:c.5503T>C
- NM_001407630.1:c.5503T>C
- NM_001407631.1:c.5503T>C
- NM_001407632.1:c.5503T>C
- NM_001407633.1:c.5503T>C
- NM_001407634.1:c.5503T>C
- NM_001407635.1:c.5503T>C
- NM_001407636.1:c.5503T>C
- NM_001407637.1:c.5503T>C
- NM_001407638.1:c.5503T>C
- NM_001407639.1:c.5503T>C
- NM_001407640.1:c.5503T>C
- NM_001407641.1:c.5503T>C
- NM_001407642.1:c.5503T>C
- NM_001407644.1:c.5500T>C
- NM_001407645.1:c.5500T>C
- NM_001407646.1:c.5497T>C
- NM_001407647.1:c.5494T>C
- NM_001407648.1:c.5452T>C
- NM_001407649.1:c.5449T>C
- NM_001407652.1:c.5431T>C
- NM_001407653.1:c.5431T>C
- NM_001407654.1:c.5431T>C
- NM_001407655.1:c.5431T>C
- NM_001407656.1:c.5428T>C
- NM_001407657.1:c.5428T>C
- NM_001407658.1:c.5428T>C
- NM_001407659.1:c.5425T>C
- NM_001407660.1:c.5425T>C
- NM_001407661.1:c.5425T>C
- NM_001407662.1:c.5425T>C
- NM_001407663.1:c.5425T>C
- NM_001407664.1:c.5386T>C
- NM_001407665.1:c.5386T>C
- NM_001407666.1:c.5386T>C
- NM_001407667.1:c.5386T>C
- NM_001407668.1:c.5386T>C
- NM_001407669.1:c.5386T>C
- NM_001407670.1:c.5383T>C
- NM_001407671.1:c.5383T>C
- NM_001407672.1:c.5383T>C
- NM_001407673.1:c.5383T>C
- NM_001407674.1:c.5383T>C
- NM_001407675.1:c.5383T>C
- NM_001407676.1:c.5383T>C
- NM_001407677.1:c.5383T>C
- NM_001407678.1:c.5383T>C
- NM_001407679.1:c.5383T>C
- NM_001407680.1:c.5383T>C
- NM_001407681.1:c.5380T>C
- NM_001407682.1:c.5380T>C
- NM_001407683.1:c.5380T>C
- NM_001407684.1:c.5380T>C
- NM_001407685.1:c.5380T>C
- NM_001407686.1:c.5380T>C
- NM_001407687.1:c.5380T>C
- NM_001407688.1:c.5380T>C
- NM_001407689.1:c.5380T>C
- NM_001407690.1:c.5377T>C
- NM_001407691.1:c.5377T>C
- NM_001407692.1:c.5368T>C
- NM_001407694.1:c.5368T>C
- NM_001407695.1:c.5368T>C
- NM_001407696.1:c.5368T>C
- NM_001407697.1:c.5368T>C
- NM_001407698.1:c.5368T>C
- NM_001407724.1:c.5368T>C
- NM_001407725.1:c.5368T>C
- NM_001407726.1:c.5368T>C
- NM_001407727.1:c.5368T>C
- NM_001407728.1:c.5368T>C
- NM_001407729.1:c.5368T>C
- NM_001407730.1:c.5368T>C
- NM_001407731.1:c.5368T>C
- NM_001407732.1:c.5365T>C
- NM_001407733.1:c.5365T>C
- NM_001407734.1:c.5365T>C
- NM_001407735.1:c.5365T>C
- NM_001407736.1:c.5365T>C
- NM_001407737.1:c.5365T>C
- NM_001407738.1:c.5365T>C
- NM_001407739.1:c.5365T>C
- NM_001407740.1:c.5365T>C
- NM_001407741.1:c.5365T>C
- NM_001407742.1:c.5365T>C
- NM_001407743.1:c.5365T>C
- NM_001407744.1:c.5365T>C
- NM_001407745.1:c.5365T>C
- NM_001407746.1:c.5365T>C
- NM_001407747.1:c.5365T>C
- NM_001407748.1:c.5365T>C
- NM_001407749.1:c.5365T>C
- NM_001407750.1:c.5365T>C
- NM_001407751.1:c.5365T>C
- NM_001407752.1:c.5365T>C
- NM_001407838.1:c.5362T>C
- NM_001407839.1:c.5362T>C
- NM_001407841.1:c.5362T>C
- NM_001407842.1:c.5362T>C
- NM_001407843.1:c.5362T>C
- NM_001407844.1:c.5362T>C
- NM_001407845.1:c.5362T>C
- NM_001407846.1:c.5362T>C
- NM_001407847.1:c.5362T>C
- NM_001407848.1:c.5362T>C
- NM_001407849.1:c.5362T>C
- NM_001407850.1:c.5362T>C
- NM_001407851.1:c.5362T>C
- NM_001407852.1:c.5362T>C
- NM_001407853.1:c.5362T>C
- NM_001407854.1:c.*23T>C
- NM_001407858.1:c.*23T>C
- NM_001407859.1:c.*23T>C
- NM_001407860.1:c.*23T>C
- NM_001407861.1:c.*23T>C
- NM_001407862.1:c.5308T>C
- NM_001407863.1:c.5305T>C
- NM_001407874.1:c.5302T>C
- NM_001407875.1:c.5302T>C
- NM_001407879.1:c.5299T>C
- NM_001407881.1:c.5299T>C
- NM_001407882.1:c.5299T>C
- NM_001407884.1:c.5299T>C
- NM_001407885.1:c.5299T>C
- NM_001407886.1:c.5299T>C
- NM_001407887.1:c.5299T>C
- NM_001407889.1:c.5299T>C
- NM_001407894.1:c.5296T>C
- NM_001407895.1:c.5296T>C
- NM_001407896.1:c.5296T>C
- NM_001407897.1:c.5296T>C
- NM_001407898.1:c.5296T>C
- NM_001407899.1:c.5296T>C
- NM_001407900.1:c.5296T>C
- NM_001407902.1:c.5296T>C
- NM_001407904.1:c.5296T>C
- NM_001407906.1:c.5296T>C
- NM_001407907.1:c.5296T>C
- NM_001407908.1:c.5296T>C
- NM_001407909.1:c.5296T>C
- NM_001407910.1:c.5296T>C
- NM_001407915.1:c.5293T>C
- NM_001407916.1:c.5293T>C
- NM_001407917.1:c.5293T>C
- NM_001407918.1:c.5293T>C
- NM_001407919.1:c.5257T>C
- NM_001407920.1:c.5245T>C
- NM_001407921.1:c.5245T>C
- NM_001407922.1:c.5245T>C
- NM_001407923.1:c.5245T>C
- NM_001407924.1:c.5245T>C
- NM_001407925.1:c.5245T>C
- NM_001407926.1:c.5245T>C
- NM_001407927.1:c.5242T>C
- NM_001407928.1:c.5242T>C
- NM_001407929.1:c.5242T>C
- NM_001407930.1:c.5242T>C
- NM_001407931.1:c.5242T>C
- NM_001407932.1:c.5242T>C
- NM_001407933.1:c.5242T>C
- NM_001407934.1:c.5239T>C
- NM_001407935.1:c.5239T>C
- NM_001407936.1:c.5239T>C
- NM_001407937.1:c.*23T>C
- NM_001407938.1:c.*23T>C
- NM_001407939.1:c.*23T>C
- NM_001407940.1:c.*23T>C
- NM_001407941.1:c.*23T>C
- NM_001407942.1:c.*23T>C
- NM_001407943.1:c.*23T>C
- NM_001407944.1:c.*23T>C
- NM_001407945.1:c.*23T>C
- NM_001407946.1:c.5176T>C
- NM_001407947.1:c.5176T>C
- NM_001407948.1:c.5176T>C
- NM_001407949.1:c.5176T>C
- NM_001407950.1:c.5173T>C
- NM_001407951.1:c.5173T>C
- NM_001407952.1:c.5173T>C
- NM_001407953.1:c.5173T>C
- NM_001407954.1:c.5173T>C
- NM_001407955.1:c.5173T>C
- NM_001407956.1:c.5170T>C
- NM_001407957.1:c.5170T>C
- NM_001407958.1:c.5170T>C
- NM_001407959.1:c.5128T>C
- NM_001407960.1:c.5125T>C
- NM_001407962.1:c.5125T>C
- NM_001407963.1:c.5122T>C
- NM_001407964.1:c.5047T>C
- NM_001407965.1:c.5002T>C
- NM_001407966.1:c.4621T>C
- NM_001407967.1:c.4618T>C
- NM_001407968.1:c.2905T>C
- NM_001407969.1:c.2902T>C
- NM_001407970.1:c.2266T>C
- NM_001407971.1:c.2266T>C
- NM_001407972.1:c.2263T>C
- NM_001407973.1:c.2200T>C
- NM_001407974.1:c.2200T>C
- NM_001407975.1:c.2200T>C
- NM_001407976.1:c.2200T>C
- NM_001407977.1:c.2200T>C
- NM_001407978.1:c.2200T>C
- NM_001407979.1:c.2197T>C
- NM_001407980.1:c.2197T>C
- NM_001407981.1:c.2197T>C
- NM_001407982.1:c.2197T>C
- NM_001407983.1:c.2197T>C
- NM_001407984.1:c.2197T>C
- NM_001407985.1:c.2197T>C
- NM_001407986.1:c.2197T>C
- NM_001407990.1:c.2197T>C
- NM_001407991.1:c.2197T>C
- NM_001407992.1:c.2197T>C
- NM_001407993.1:c.2197T>C
- NM_001408392.1:c.2194T>C
- NM_001408396.1:c.2194T>C
- NM_001408397.1:c.2194T>C
- NM_001408398.1:c.2194T>C
- NM_001408399.1:c.2194T>C
- NM_001408400.1:c.2194T>C
- NM_001408401.1:c.2194T>C
- NM_001408402.1:c.2194T>C
- NM_001408403.1:c.2194T>C
- NM_001408404.1:c.2194T>C
- NM_001408406.1:c.2191T>C
- NM_001408407.1:c.2191T>C
- NM_001408408.1:c.2191T>C
- NM_001408409.1:c.2188T>C
- NM_001408410.1:c.2125T>C
- NM_001408411.1:c.2122T>C
- NM_001408412.1:c.2119T>C
- NM_001408413.1:c.2119T>C
- NM_001408414.1:c.2119T>C
- NM_001408415.1:c.2119T>C
- NM_001408416.1:c.2119T>C
- NM_001408418.1:c.2083T>C
- NM_001408419.1:c.2083T>C
- NM_001408420.1:c.2083T>C
- NM_001408421.1:c.2080T>C
- NM_001408422.1:c.2080T>C
- NM_001408423.1:c.2080T>C
- NM_001408424.1:c.2080T>C
- NM_001408425.1:c.2077T>C
- NM_001408426.1:c.2077T>C
- NM_001408427.1:c.2077T>C
- NM_001408428.1:c.2077T>C
- NM_001408429.1:c.2077T>C
- NM_001408430.1:c.2077T>C
- NM_001408431.1:c.2077T>C
- NM_001408432.1:c.2074T>C
- NM_001408433.1:c.2074T>C
- NM_001408434.1:c.2074T>C
- NM_001408435.1:c.2074T>C
- NM_001408436.1:c.2074T>C
- NM_001408437.1:c.2074T>C
- NM_001408438.1:c.2074T>C
- NM_001408439.1:c.2074T>C
- NM_001408440.1:c.2074T>C
- NM_001408441.1:c.2074T>C
- NM_001408442.1:c.2074T>C
- NM_001408443.1:c.2074T>C
- NM_001408444.1:c.2074T>C
- NM_001408445.1:c.2071T>C
- NM_001408446.1:c.2071T>C
- NM_001408447.1:c.2071T>C
- NM_001408448.1:c.2071T>C
- NM_001408450.1:c.2071T>C
- NM_001408451.1:c.2065T>C
- NM_001408452.1:c.2059T>C
- NM_001408453.1:c.2059T>C
- NM_001408454.1:c.2059T>C
- NM_001408455.1:c.2059T>C
- NM_001408456.1:c.2059T>C
- NM_001408457.1:c.2059T>C
- NM_001408458.1:c.2056T>C
- NM_001408459.1:c.2056T>C
- NM_001408460.1:c.2056T>C
- NM_001408461.1:c.2056T>C
- NM_001408462.1:c.2056T>C
- NM_001408463.1:c.2056T>C
- NM_001408464.1:c.2056T>C
- NM_001408465.1:c.2056T>C
- NM_001408466.1:c.2056T>C
- NM_001408467.1:c.2056T>C
- NM_001408468.1:c.2053T>C
- NM_001408469.1:c.2053T>C
- NM_001408470.1:c.2053T>C
- NM_001408472.1:c.*23T>C
- NM_001408473.1:c.*23T>C
- NM_001408474.1:c.1999T>C
- NM_001408475.1:c.1996T>C
- NM_001408476.1:c.1996T>C
- NM_001408478.1:c.1990T>C
- NM_001408479.1:c.1990T>C
- NM_001408480.1:c.1990T>C
- NM_001408481.1:c.1987T>C
- NM_001408482.1:c.1987T>C
- NM_001408483.1:c.1987T>C
- NM_001408484.1:c.1987T>C
- NM_001408485.1:c.1987T>C
- NM_001408489.1:c.1987T>C
- NM_001408490.1:c.1987T>C
- NM_001408491.1:c.1987T>C
- NM_001408492.1:c.1984T>C
- NM_001408493.1:c.1984T>C
- NM_001408494.1:c.1960T>C
- NM_001408495.1:c.1954T>C
- NM_001408496.1:c.1936T>C
- NM_001408497.1:c.1936T>C
- NM_001408498.1:c.1936T>C
- NM_001408499.1:c.1936T>C
- NM_001408500.1:c.1936T>C
- NM_001408501.1:c.1936T>C
- NM_001408502.1:c.1933T>C
- NM_001408503.1:c.1933T>C
- NM_001408504.1:c.1933T>C
- NM_001408505.1:c.1930T>C
- NM_001408506.1:c.1873T>C
- NM_001408507.1:c.1870T>C
- NM_001408508.1:c.1861T>C
- NM_001408509.1:c.1858T>C
- NM_001408510.1:c.1819T>C
- NM_001408511.1:c.1816T>C
- NM_001408512.1:c.1696T>C
- NM_001408513.1:c.1669T>C
- NM_001408514.1:c.1273T>C
- NM_007294.4:c.5509T>CMANE SELECT
- NM_007297.4:c.5368T>C
- NM_007298.4:c.2197T>C
- NM_007299.4:c.*23T>C
- NM_007300.4:c.5572T>C
- NM_007304.2:c.2197T>C
- NP_001394500.1:p.Trp1766Arg
- NP_001394510.1:p.Trp1859Arg
- NP_001394511.1:p.Trp1859Arg
- NP_001394512.1:p.Trp1858Arg
- NP_001394514.1:p.Trp1858Arg
- NP_001394516.1:p.Trp1858Arg
- NP_001394519.1:p.Trp1857Arg
- NP_001394520.1:p.Trp1857Arg
- NP_001394522.1:p.Trp1837Arg
- NP_001394523.1:p.Trp1837Arg
- NP_001394525.1:p.Trp1837Arg
- NP_001394526.1:p.Trp1837Arg
- NP_001394527.1:p.Trp1837Arg
- NP_001394531.1:p.Trp1837Arg
- NP_001394532.1:p.Trp1837Arg
- NP_001394534.1:p.Trp1837Arg
- NP_001394539.1:p.Trp1836Arg
- NP_001394540.1:p.Trp1836Arg
- NP_001394541.1:p.Trp1836Arg
- NP_001394542.1:p.Trp1836Arg
- NP_001394543.1:p.Trp1836Arg
- NP_001394544.1:p.Trp1836Arg
- NP_001394545.1:p.Trp1836Arg
- NP_001394546.1:p.Trp1836Arg
- NP_001394547.1:p.Trp1836Arg
- NP_001394548.1:p.Trp1836Arg
- NP_001394549.1:p.Trp1836Arg
- NP_001394550.1:p.Trp1836Arg
- NP_001394551.1:p.Trp1836Arg
- NP_001394552.1:p.Trp1836Arg
- NP_001394553.1:p.Trp1836Arg
- NP_001394554.1:p.Trp1836Arg
- NP_001394555.1:p.Trp1836Arg
- NP_001394556.1:p.Trp1835Arg
- NP_001394557.1:p.Trp1835Arg
- NP_001394558.1:p.Trp1835Arg
- NP_001394559.1:p.Trp1835Arg
- NP_001394560.1:p.Trp1835Arg
- NP_001394561.1:p.Trp1835Arg
- NP_001394562.1:p.Trp1835Arg
- NP_001394563.1:p.Trp1835Arg
- NP_001394564.1:p.Trp1835Arg
- NP_001394565.1:p.Trp1835Arg
- NP_001394566.1:p.Trp1835Arg
- NP_001394567.1:p.Trp1835Arg
- NP_001394568.1:p.Trp1835Arg
- NP_001394569.1:p.Trp1835Arg
- NP_001394570.1:p.Trp1835Arg
- NP_001394571.1:p.Trp1835Arg
- NP_001394573.1:p.Trp1834Arg
- NP_001394574.1:p.Trp1834Arg
- NP_001394575.1:p.Trp1833Arg
- NP_001394576.1:p.Trp1832Arg
- NP_001394577.1:p.Trp1818Arg
- NP_001394578.1:p.Trp1817Arg
- NP_001394581.1:p.Trp1811Arg
- NP_001394582.1:p.Trp1811Arg
- NP_001394583.1:p.Trp1811Arg
- NP_001394584.1:p.Trp1811Arg
- NP_001394585.1:p.Trp1810Arg
- NP_001394586.1:p.Trp1810Arg
- NP_001394587.1:p.Trp1810Arg
- NP_001394588.1:p.Trp1809Arg
- NP_001394589.1:p.Trp1809Arg
- NP_001394590.1:p.Trp1809Arg
- NP_001394591.1:p.Trp1809Arg
- NP_001394592.1:p.Trp1809Arg
- NP_001394593.1:p.Trp1796Arg
- NP_001394594.1:p.Trp1796Arg
- NP_001394595.1:p.Trp1796Arg
- NP_001394596.1:p.Trp1796Arg
- NP_001394597.1:p.Trp1796Arg
- NP_001394598.1:p.Trp1796Arg
- NP_001394599.1:p.Trp1795Arg
- NP_001394600.1:p.Trp1795Arg
- NP_001394601.1:p.Trp1795Arg
- NP_001394602.1:p.Trp1795Arg
- NP_001394603.1:p.Trp1795Arg
- NP_001394604.1:p.Trp1795Arg
- NP_001394605.1:p.Trp1795Arg
- NP_001394606.1:p.Trp1795Arg
- NP_001394607.1:p.Trp1795Arg
- NP_001394608.1:p.Trp1795Arg
- NP_001394609.1:p.Trp1795Arg
- NP_001394610.1:p.Trp1794Arg
- NP_001394611.1:p.Trp1794Arg
- NP_001394612.1:p.Trp1794Arg
- NP_001394613.1:p.Trp1794Arg
- NP_001394614.1:p.Trp1794Arg
- NP_001394615.1:p.Trp1794Arg
- NP_001394616.1:p.Trp1794Arg
- NP_001394617.1:p.Trp1794Arg
- NP_001394618.1:p.Trp1794Arg
- NP_001394619.1:p.Trp1793Arg
- NP_001394620.1:p.Trp1793Arg
- NP_001394621.1:p.Trp1790Arg
- NP_001394623.1:p.Trp1790Arg
- NP_001394624.1:p.Trp1790Arg
- NP_001394625.1:p.Trp1790Arg
- NP_001394626.1:p.Trp1790Arg
- NP_001394627.1:p.Trp1790Arg
- NP_001394653.1:p.Trp1790Arg
- NP_001394654.1:p.Trp1790Arg
- NP_001394655.1:p.Trp1790Arg
- NP_001394656.1:p.Trp1790Arg
- NP_001394657.1:p.Trp1790Arg
- NP_001394658.1:p.Trp1790Arg
- NP_001394659.1:p.Trp1790Arg
- NP_001394660.1:p.Trp1790Arg
- NP_001394661.1:p.Trp1789Arg
- NP_001394662.1:p.Trp1789Arg
- NP_001394663.1:p.Trp1789Arg
- NP_001394664.1:p.Trp1789Arg
- NP_001394665.1:p.Trp1789Arg
- NP_001394666.1:p.Trp1789Arg
- NP_001394667.1:p.Trp1789Arg
- NP_001394668.1:p.Trp1789Arg
- NP_001394669.1:p.Trp1789Arg
- NP_001394670.1:p.Trp1789Arg
- NP_001394671.1:p.Trp1789Arg
- NP_001394672.1:p.Trp1789Arg
- NP_001394673.1:p.Trp1789Arg
- NP_001394674.1:p.Trp1789Arg
- NP_001394675.1:p.Trp1789Arg
- NP_001394676.1:p.Trp1789Arg
- NP_001394677.1:p.Trp1789Arg
- NP_001394678.1:p.Trp1789Arg
- NP_001394679.1:p.Trp1789Arg
- NP_001394680.1:p.Trp1789Arg
- NP_001394681.1:p.Trp1789Arg
- NP_001394767.1:p.Trp1788Arg
- NP_001394768.1:p.Trp1788Arg
- NP_001394770.1:p.Trp1788Arg
- NP_001394771.1:p.Trp1788Arg
- NP_001394772.1:p.Trp1788Arg
- NP_001394773.1:p.Trp1788Arg
- NP_001394774.1:p.Trp1788Arg
- NP_001394775.1:p.Trp1788Arg
- NP_001394776.1:p.Trp1788Arg
- NP_001394777.1:p.Trp1788Arg
- NP_001394778.1:p.Trp1788Arg
- NP_001394779.1:p.Trp1788Arg
- NP_001394780.1:p.Trp1788Arg
- NP_001394781.1:p.Trp1788Arg
- NP_001394782.1:p.Trp1788Arg
- NP_001394791.1:p.Trp1770Arg
- NP_001394792.1:p.Trp1769Arg
- NP_001394803.1:p.Trp1768Arg
- NP_001394804.1:p.Trp1768Arg
- NP_001394808.1:p.Trp1767Arg
- NP_001394810.1:p.Trp1767Arg
- NP_001394811.1:p.Trp1767Arg
- NP_001394813.1:p.Trp1767Arg
- NP_001394814.1:p.Trp1767Arg
- NP_001394815.1:p.Trp1767Arg
- NP_001394816.1:p.Trp1767Arg
- NP_001394818.1:p.Trp1767Arg
- NP_001394823.1:p.Trp1766Arg
- NP_001394824.1:p.Trp1766Arg
- NP_001394825.1:p.Trp1766Arg
- NP_001394826.1:p.Trp1766Arg
- NP_001394827.1:p.Trp1766Arg
- NP_001394828.1:p.Trp1766Arg
- NP_001394829.1:p.Trp1766Arg
- NP_001394831.1:p.Trp1766Arg
- NP_001394833.1:p.Trp1766Arg
- NP_001394835.1:p.Trp1766Arg
- NP_001394836.1:p.Trp1766Arg
- NP_001394837.1:p.Trp1766Arg
- NP_001394838.1:p.Trp1766Arg
- NP_001394839.1:p.Trp1766Arg
- NP_001394844.1:p.Trp1765Arg
- NP_001394845.1:p.Trp1765Arg
- NP_001394846.1:p.Trp1765Arg
- NP_001394847.1:p.Trp1765Arg
- NP_001394848.1:p.Trp1753Arg
- NP_001394849.1:p.Trp1749Arg
- NP_001394850.1:p.Trp1749Arg
- NP_001394851.1:p.Trp1749Arg
- NP_001394852.1:p.Trp1749Arg
- NP_001394853.1:p.Trp1749Arg
- NP_001394854.1:p.Trp1749Arg
- NP_001394855.1:p.Trp1749Arg
- NP_001394856.1:p.Trp1748Arg
- NP_001394857.1:p.Trp1748Arg
- NP_001394858.1:p.Trp1748Arg
- NP_001394859.1:p.Trp1748Arg
- NP_001394860.1:p.Trp1748Arg
- NP_001394861.1:p.Trp1748Arg
- NP_001394862.1:p.Trp1748Arg
- NP_001394863.1:p.Trp1747Arg
- NP_001394864.1:p.Trp1747Arg
- NP_001394865.1:p.Trp1747Arg
- NP_001394875.1:p.Trp1726Arg
- NP_001394876.1:p.Trp1726Arg
- NP_001394877.1:p.Trp1726Arg
- NP_001394878.1:p.Trp1726Arg
- NP_001394879.1:p.Trp1725Arg
- NP_001394880.1:p.Trp1725Arg
- NP_001394881.1:p.Trp1725Arg
- NP_001394882.1:p.Trp1725Arg
- NP_001394883.1:p.Trp1725Arg
- NP_001394884.1:p.Trp1725Arg
- NP_001394885.1:p.Trp1724Arg
- NP_001394886.1:p.Trp1724Arg
- NP_001394887.1:p.Trp1724Arg
- NP_001394888.1:p.Trp1710Arg
- NP_001394889.1:p.Trp1709Arg
- NP_001394891.1:p.Trp1709Arg
- NP_001394892.1:p.Trp1708Arg
- NP_001394893.1:p.Trp1683Arg
- NP_001394894.1:p.Trp1668Arg
- NP_001394895.1:p.Trp1541Arg
- NP_001394896.1:p.Trp1540Arg
- NP_001394897.1:p.Trp969Arg
- NP_001394898.1:p.Trp968Arg
- NP_001394899.1:p.Trp756Arg
- NP_001394900.1:p.Trp756Arg
- NP_001394901.1:p.Trp755Arg
- NP_001394902.1:p.Trp734Arg
- NP_001394903.1:p.Trp734Arg
- NP_001394904.1:p.Trp734Arg
- NP_001394905.1:p.Trp734Arg
- NP_001394906.1:p.Trp734Arg
- NP_001394907.1:p.Trp734Arg
- NP_001394908.1:p.Trp733Arg
- NP_001394909.1:p.Trp733Arg
- NP_001394910.1:p.Trp733Arg
- NP_001394911.1:p.Trp733Arg
- NP_001394912.1:p.Trp733Arg
- NP_001394913.1:p.Trp733Arg
- NP_001394914.1:p.Trp733Arg
- NP_001394915.1:p.Trp733Arg
- NP_001394919.1:p.Trp733Arg
- NP_001394920.1:p.Trp733Arg
- NP_001394921.1:p.Trp733Arg
- NP_001394922.1:p.Trp733Arg
- NP_001395321.1:p.Trp732Arg
- NP_001395325.1:p.Trp732Arg
- NP_001395326.1:p.Trp732Arg
- NP_001395327.1:p.Trp732Arg
- NP_001395328.1:p.Trp732Arg
- NP_001395329.1:p.Trp732Arg
- NP_001395330.1:p.Trp732Arg
- NP_001395331.1:p.Trp732Arg
- NP_001395332.1:p.Trp732Arg
- NP_001395333.1:p.Trp732Arg
- NP_001395335.1:p.Trp731Arg
- NP_001395336.1:p.Trp731Arg
- NP_001395337.1:p.Trp731Arg
- NP_001395338.1:p.Trp730Arg
- NP_001395339.1:p.Trp709Arg
- NP_001395340.1:p.Trp708Arg
- NP_001395341.1:p.Trp707Arg
- NP_001395342.1:p.Trp707Arg
- NP_001395343.1:p.Trp707Arg
- NP_001395344.1:p.Trp707Arg
- NP_001395345.1:p.Trp707Arg
- NP_001395347.1:p.Trp695Arg
- NP_001395348.1:p.Trp695Arg
- NP_001395349.1:p.Trp695Arg
- NP_001395350.1:p.Trp694Arg
- NP_001395351.1:p.Trp694Arg
- NP_001395352.1:p.Trp694Arg
- NP_001395353.1:p.Trp694Arg
- NP_001395354.1:p.Trp693Arg
- NP_001395355.1:p.Trp693Arg
- NP_001395356.1:p.Trp693Arg
- NP_001395357.1:p.Trp693Arg
- NP_001395358.1:p.Trp693Arg
- NP_001395359.1:p.Trp693Arg
- NP_001395360.1:p.Trp693Arg
- NP_001395361.1:p.Trp692Arg
- NP_001395362.1:p.Trp692Arg
- NP_001395363.1:p.Trp692Arg
- NP_001395364.1:p.Trp692Arg
- NP_001395365.1:p.Trp692Arg
- NP_001395366.1:p.Trp692Arg
- NP_001395367.1:p.Trp692Arg
- NP_001395368.1:p.Trp692Arg
- NP_001395369.1:p.Trp692Arg
- NP_001395370.1:p.Trp692Arg
- NP_001395371.1:p.Trp692Arg
- NP_001395372.1:p.Trp692Arg
- NP_001395373.1:p.Trp692Arg
- NP_001395374.1:p.Trp691Arg
- NP_001395375.1:p.Trp691Arg
- NP_001395376.1:p.Trp691Arg
- NP_001395377.1:p.Trp691Arg
- NP_001395379.1:p.Trp691Arg
- NP_001395380.1:p.Trp689Arg
- NP_001395381.1:p.Trp687Arg
- NP_001395382.1:p.Trp687Arg
- NP_001395383.1:p.Trp687Arg
- NP_001395384.1:p.Trp687Arg
- NP_001395385.1:p.Trp687Arg
- NP_001395386.1:p.Trp687Arg
- NP_001395387.1:p.Trp686Arg
- NP_001395388.1:p.Trp686Arg
- NP_001395389.1:p.Trp686Arg
- NP_001395390.1:p.Trp686Arg
- NP_001395391.1:p.Trp686Arg
- NP_001395392.1:p.Trp686Arg
- NP_001395393.1:p.Trp686Arg
- NP_001395394.1:p.Trp686Arg
- NP_001395395.1:p.Trp686Arg
- NP_001395396.1:p.Trp686Arg
- NP_001395397.1:p.Trp685Arg
- NP_001395398.1:p.Trp685Arg
- NP_001395399.1:p.Trp685Arg
- NP_001395403.1:p.Trp667Arg
- NP_001395404.1:p.Trp666Arg
- NP_001395405.1:p.Trp666Arg
- NP_001395407.1:p.Trp664Arg
- NP_001395408.1:p.Trp664Arg
- NP_001395409.1:p.Trp664Arg
- NP_001395410.1:p.Trp663Arg
- NP_001395411.1:p.Trp663Arg
- NP_001395412.1:p.Trp663Arg
- NP_001395413.1:p.Trp663Arg
- NP_001395414.1:p.Trp663Arg
- NP_001395418.1:p.Trp663Arg
- NP_001395419.1:p.Trp663Arg
- NP_001395420.1:p.Trp663Arg
- NP_001395421.1:p.Trp662Arg
- NP_001395422.1:p.Trp662Arg
- NP_001395423.1:p.Trp654Arg
- NP_001395424.1:p.Trp652Arg
- NP_001395425.1:p.Trp646Arg
- NP_001395426.1:p.Trp646Arg
- NP_001395427.1:p.Trp646Arg
- NP_001395428.1:p.Trp646Arg
- NP_001395429.1:p.Trp646Arg
- NP_001395430.1:p.Trp646Arg
- NP_001395431.1:p.Trp645Arg
- NP_001395432.1:p.Trp645Arg
- NP_001395433.1:p.Trp645Arg
- NP_001395434.1:p.Trp644Arg
- NP_001395435.1:p.Trp625Arg
- NP_001395436.1:p.Trp624Arg
- NP_001395437.1:p.Trp621Arg
- NP_001395438.1:p.Trp620Arg
- NP_001395439.1:p.Trp607Arg
- NP_001395440.1:p.Trp606Arg
- NP_001395441.1:p.Trp566Arg
- NP_001395442.1:p.Trp557Arg
- NP_001395443.1:p.Trp425Arg
- NP_009225.1:p.Trp1837Arg
- NP_009225.1:p.Trp1837Arg
- NP_009228.2:p.Trp1790Arg
- NP_009229.2:p.Trp733Arg
- NP_009229.2:p.Trp733Arg
- NP_009231.2:p.Trp1858Arg
- NP_009235.2:p.Trp733Arg
- LRG_292t1:c.5509T>C
- LRG_292:g.172223T>C
- LRG_292p1:p.Trp1837Arg
- NC_000017.10:g.41197778A>G
- NM_007294.3:c.5509T>C
- NM_007298.3:c.2197T>C
- NR_027676.2:n.5686T>C
- P38398:p.Trp1837Arg
- U14680.1:n.5628T>C
- p.W1837R
This HGVS expression did not pass validation- Nucleotide change:
- 5628T>C
- Protein change:
- W1540R
- Links:
- UniProtKB: P38398#VAR_070518; dbSNP: rs80356959
- NCBI 1000 Genomes Browser:
- rs80356959
- Molecular consequence:
- NM_007299.4:c.*23T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
- NM_001407571.1:c.5296T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.5575T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.5575T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.5572T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.5572T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.5572T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.5569T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.5569T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.5509T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.5509T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.5509T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.5509T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.5509T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.5509T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.5509T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.5509T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.5506T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.5506T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.5506T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.5506T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.5506T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.5506T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.5506T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.5506T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.5506T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.5506T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.5506T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.5506T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.5506T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.5506T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.5506T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.5506T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.5506T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.5503T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.5503T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.5503T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.5503T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.5503T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.5503T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.5503T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.5503T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.5503T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.5503T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.5503T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.5503T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.5503T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.5503T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.5503T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.5503T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.5500T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.5500T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.5497T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.5494T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.5452T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.5449T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.5431T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.5431T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.5431T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.5431T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.5428T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.5428T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.5428T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.5425T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.5425T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.5425T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.5425T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.5425T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.5386T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.5386T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.5386T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.5386T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.5386T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.5386T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.5383T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.5383T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.5383T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.5383T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.5383T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.5383T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.5383T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.5383T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.5383T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.5383T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.5383T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.5380T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.5380T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.5380T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.5380T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.5380T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.5380T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.5380T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.5380T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.5380T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.5377T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.5377T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.5368T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.5368T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.5368T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.5368T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.5368T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.5368T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.5368T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.5368T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.5368T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.5368T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.5368T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.5368T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.5368T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.5368T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.5365T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.5365T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.5365T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.5365T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.5365T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.5365T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.5365T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.5365T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.5365T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.5365T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.5365T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.5365T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.5365T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.5365T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.5365T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.5365T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.5365T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.5365T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.5365T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.5365T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.5365T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.5362T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.5362T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.5362T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.5362T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.5362T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.5362T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.5362T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.5362T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.5362T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.5362T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.5362T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.5362T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.5362T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.5362T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.5362T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.5308T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.5305T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.5302T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.5302T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.5299T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.5299T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.5299T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.5299T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.5299T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.5299T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.5299T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.5299T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.5296T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.5296T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.5296T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.5296T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.5296T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.5296T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.5296T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.5296T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.5296T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.5296T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.5296T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.5296T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.5296T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.5296T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.5293T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.5293T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.5293T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.5293T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.5257T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.5245T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.5245T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.5245T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.5245T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.5245T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.5245T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.5245T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.5242T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.5242T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.5242T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.5242T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.5242T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.5242T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.5242T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.5239T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.5239T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.5239T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.5176T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.5176T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.5176T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.5176T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.5173T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.5173T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.5173T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.5173T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.5173T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.5173T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.5170T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.5170T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.5170T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.5128T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.5125T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.5125T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.5122T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.5047T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.5002T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.4621T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.4618T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.2905T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.2902T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.2266T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.2266T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.2263T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.2200T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.2200T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.2200T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.2200T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.2200T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.2200T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.2197T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.2197T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.2197T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.2197T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.2197T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.2197T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.2197T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.2197T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.2197T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.2197T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.2197T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.2197T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.2194T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.2194T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.2194T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.2194T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.2194T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.2194T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.2194T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.2194T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.2194T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.2194T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.2191T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.2191T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.2191T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.2188T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408410.1:c.2125T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.2122T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.2119T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.2119T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.2119T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.2119T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.2119T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.2083T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.2083T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.2083T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.2080T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.2080T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.2080T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.2080T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.2077T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.2077T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.2077T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.2077T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.2077T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.2077T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.2077T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.2074T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.2074T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.2074T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.2074T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.2074T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.2074T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.2074T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.2074T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.2074T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.2074T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.2074T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.2074T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.2074T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.2071T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.2071T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.2071T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.2071T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.2071T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408451.1:c.2065T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408452.1:c.2059T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408453.1:c.2059T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408454.1:c.2059T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408455.1:c.2059T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408456.1:c.2059T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408457.1:c.2059T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408458.1:c.2056T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408459.1:c.2056T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408460.1:c.2056T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408461.1:c.2056T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408462.1:c.2056T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408463.1:c.2056T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408464.1:c.2056T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408465.1:c.2056T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408466.1:c.2056T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408467.1:c.2056T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408468.1:c.2053T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408469.1:c.2053T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408470.1:c.2053T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.1999T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.1996T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.1996T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408478.1:c.1990T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408479.1:c.1990T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408480.1:c.1990T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408481.1:c.1987T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408482.1:c.1987T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408483.1:c.1987T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408484.1:c.1987T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408485.1:c.1987T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408489.1:c.1987T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408490.1:c.1987T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408491.1:c.1987T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408492.1:c.1984T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408493.1:c.1984T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.1960T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.1954T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408496.1:c.1936T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408497.1:c.1936T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408498.1:c.1936T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408499.1:c.1936T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408500.1:c.1936T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408501.1:c.1936T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408502.1:c.1933T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408503.1:c.1933T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408504.1:c.1933T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408505.1:c.1930T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408506.1:c.1873T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408507.1:c.1870T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408508.1:c.1861T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408509.1:c.1858T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408510.1:c.1819T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408511.1:c.1816T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408512.1:c.1696T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408513.1:c.1669T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408514.1:c.1273T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.5509T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.5368T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.2197T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.5572T>C - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.2197T>C - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.5686T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- Functional consequence:
- functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5509T>C, a MISSENSE variant, produced a function score of -2.31, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12.
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
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000916785 | Women's Health and Genetics/Laboratory Corporation of America, LabCorp | criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015) | Pathogenic (Feb 5, 2024) | germline | clinical testing | |
SCV001578228 | Invitae | criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015)) | Pathogenic (Jan 6, 2024) | germline | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.
Abkevich V, Zharkikh A, Deffenbaugh AM, Frank D, Chen Y, Shattuck D, Skolnick MH, Gutin A, Tavtigian SV.
J Med Genet. 2004 Jul;41(7):492-507.
- PMID:
- 15235020
- PMCID:
- PMC1735826
Mirkovic N, Marti-Renom MA, Weber BL, Sali A, Monteiro AN.
Cancer Res. 2004 Jun 1;64(11):3790-7.
- PMID:
- 15172985
Details of each submission
From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000916785.3
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (19) |
Description
Variant summary: BRCA1 c.5509T>C (p.Trp1837Arg) results in a non-conservative amino acid change located in the BRCT domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. Multiple functional studies from different model systems showed mutant protein with decreased stability and solubility, compromised substrate binding activity, increased protease sensitivity, decreased transcription activation level, non-functional HDR pathway and increased cisplatin sensitivity (Phelan_2005, Bouwman_2013, Williams_2003, Lee_ 2010, and Rowling _2010, Findlay_2018), suggesting a defective function of the protein associated with this variant. Structural 3-D modeling study and comparative sequence alignment studies predicted the variant to be cancer-associated or likely to be deleterious (Mirkovic_2004 and Abkevich _2004, respectively). The variant was absent in 247618 control chromosomes (gnomAD). This variant has been reported in the literature in multiple individuals affected with Hereditary Breast and Ovarian Cancer (Montagna _1996, Meisel_2017, Fernandes_2016, Zanella_2017, Azzollini_2016, Park_2017, Phelan_2005, Zuntini_2018). In one report, the variant was shown to segregate with disease in two affected family members (Zutini_2018). However, in one family the variant was identified in a father with prostate cancer and in his daughter who had breast cancer at age 39 but it was absent in two cousins of the proband affected with breast and bladder cancer (Phelan_2005), which may suggest lack of co-segregation of the variant with the disease or another pathogenic variant may present in this family. The following publications have been ascertained in the context of this evaluation (PMID: 15235020, 27062684, 23867111, 17005433, 27741520, 30209399, 21447777, 17305420, 20516115, 11802209, 28324225, 15172985, 8968102, 28111427, 15689452, 20378548, 14534301, 28781887, 28263838, 30254663). ClinVar contains an entry for this variant (Variation ID: 37679). Based on the evidence outlined above, the variant was classified as pathogenic.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
From Invitae, SCV001578228.4
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | PubMed (11) |
Description
This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 1837 of the BRCA1 protein (p.Trp1837Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with breast and/or ovarian cancer (PMID: 8968102, 11802209, 15689452, 27741520, 28324225; Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 37679). 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 with a positive predictive value of 95%. Experimental studies have shown that this missense change affects BRCA1 function (PMID: 14534301, 15689452, 17305420, 20516115, 23867111, 30209399). For these reasons, this variant has been classified as Pathogenic.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | not provided | not provided | not provided | not provided | not provided | not provided | not provided |
Last Updated: May 19, 2024