NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:: Pathogenic (10 submissions)
Last evaluated:: Jun 18, 2019
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000031260.22

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

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)

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000053864	Sharing Clinical Reports Project (SCRP)	no assertion criteria provided	Likely pathogenic (Nov 17, 2010)	germline	clinical testing
SCV000145556	Breast Cancer Information Core (BIC) (BRCA1)	no assertion criteria provided	Uncertain significance (May 29, 2002)	germline	clinical testing
SCV000785711	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Likely pathogenic (Nov 7, 2017)	unknown	clinical testing	PubMed (11) [See all records that cite these PMIDs] 17005433, 16969499, 28111427, 28781887, 20378548, 11802209, 27741520, 8968102, 15689452, 23867111, 20516115 Counsyl_Autosomal_Dominant_Disease_Classification_criteria_(2015)_v1.pdf, Citation Link,
SCV001140463	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Likely pathogenic (May 28, 2019)	unknown	clinical testing	Citation Link,
SCV001161646	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2017-06-29))	Pathogenic (Jun 18, 2019)	germline	curation	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV001243483	Brotman Baty Institute, University of Washington	no classification provided	not provided	not applicable	in vitro	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV001499667	Department of Molecular Diagnostics, Institute of Oncology Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 2, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002003983	Molecular Endocrinology Laboratory, Christian Medical College	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 15172985, 25741868
SCV004215199	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 27, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004228371	Department of Medical and Surgical Sciences, University of Bologna	no assertion criteria provided	Pathogenic (Sep 1, 2023)	germline	clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	2	not provided	not provided	2	not provided	clinical testing
not provided	not applicable	not applicable	not provided	not provided	not provided	not provided	not provided	in vitro
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation
Caucasian	germline	yes	4	not provided	not provided	not provided	not provided	clinical testing
Near Eastern	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
Western European	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Specific changes in the proteomic pattern produced by the BRCA1-Ser1841Asn missense mutation.

Crugliano T, Quaresima B, Gaspari M, Faniello MC, Romeo F, Baudi F, Cuda G, Costanzo F, Venuta S.

Int J Biochem Cell Biol. 2007;39(1):220-6. Epub 2006 Aug 30. Erratum in: Int J Biochem Cell Biol. 2017 Jul;88:236-237.

PubMed [citation]

PMID:: 17005433

Missense mutations of BRCA1 gene affect the binding with p53 both in vitro and in vivo.

Quaresima B, Faniello MC, Baudi F, Crugliano T, Di Sanzo M, Cuda G, Costanzo F, Venuta S.

Oncol Rep. 2006 Oct;16(4):811-5.

PubMed [citation]

PMID:: 16969499

See all PubMed Citations (15)

Details of each submission

From Sharing Clinical Reports Project (SCRP), SCV000053864.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	2	not provided	not provided		not provided	not provided	not provided	not provided

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145556.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	not provided
2	Caucasian	1	not provided	not provided	clinical testing	not provided
3	Caucasian	3	not provided	not provided	clinical testing	not provided
4	Near Eastern	1	not provided	not provided	clinical testing	not provided
5	Western European	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		3	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
3	germline	yes	not provided	not provided	not provided		3	not provided	not provided	not provided
4	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
5	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Counsyl, SCV000785711.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (11)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Mendelics, SCV001140463.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), SCV001161646.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (1)

Description

IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 based on posterior probability = 0.991787

#	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 Brotman Baty Institute, University of Washington, SCV001243483.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	in vitro	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not applicable	not applicable	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Department of Molecular Diagnostics, Institute of Oncology Ljubljana, SCV001499667.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Molecular Endocrinology Laboratory, Christian Medical College, SCV002003983.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics, SCV004215199.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Department of Medical and Surgical Sciences, University of Bologna, SCV004228371.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

PS3(Strong)+PM2(Supporting)+PP4(Very Strong) according to ACMG/AMP classification guidelines specified for BRCA1 & BRCA2 (Classification Criteria V1.0.0 2023-09-08 - https://cspec.genome.network/cspec/ui/svi/affiliation/50087) (PMID: 38160042)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 19, 2024

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