NM_007294.4(BRCA1):c.5506G>A (p.Glu1836Lys) AND Breast-ovarian cancer, familial, susceptibility to, 1
- 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:
- RCV000112686.10
Allele description [Variation Report for NM_007294.4(BRCA1):c.5506G>A (p.Glu1836Lys)]
NM_007294.4(BRCA1):c.5506G>A (p.Glu1836Lys)
- 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.5506G>A (p.Glu1836Lys)
- Other names:
- p.E1836K:GAG>AAG
- HGVS:
- NC_000017.11:g.43045764C>T
- NG_005905.2:g.172220G>A
- NM_001407571.1:c.5293G>A
- NM_001407581.1:c.5572G>A
- NM_001407582.1:c.5572G>A
- NM_001407583.1:c.5569G>A
- NM_001407585.1:c.5569G>A
- NM_001407587.1:c.5569G>A
- NM_001407590.1:c.5566G>A
- NM_001407591.1:c.5566G>A
- NM_001407593.1:c.5506G>A
- NM_001407594.1:c.5506G>A
- NM_001407596.1:c.5506G>A
- NM_001407597.1:c.5506G>A
- NM_001407598.1:c.5506G>A
- NM_001407602.1:c.5506G>A
- NM_001407603.1:c.5506G>A
- NM_001407605.1:c.5506G>A
- NM_001407610.1:c.5503G>A
- NM_001407611.1:c.5503G>A
- NM_001407612.1:c.5503G>A
- NM_001407613.1:c.5503G>A
- NM_001407614.1:c.5503G>A
- NM_001407615.1:c.5503G>A
- NM_001407616.1:c.5503G>A
- NM_001407617.1:c.5503G>A
- NM_001407618.1:c.5503G>A
- NM_001407619.1:c.5503G>A
- NM_001407620.1:c.5503G>A
- NM_001407621.1:c.5503G>A
- NM_001407622.1:c.5503G>A
- NM_001407623.1:c.5503G>A
- NM_001407624.1:c.5503G>A
- NM_001407625.1:c.5503G>A
- NM_001407626.1:c.5503G>A
- NM_001407627.1:c.5500G>A
- NM_001407628.1:c.5500G>A
- NM_001407629.1:c.5500G>A
- NM_001407630.1:c.5500G>A
- NM_001407631.1:c.5500G>A
- NM_001407632.1:c.5500G>A
- NM_001407633.1:c.5500G>A
- NM_001407634.1:c.5500G>A
- NM_001407635.1:c.5500G>A
- NM_001407636.1:c.5500G>A
- NM_001407637.1:c.5500G>A
- NM_001407638.1:c.5500G>A
- NM_001407639.1:c.5500G>A
- NM_001407640.1:c.5500G>A
- NM_001407641.1:c.5500G>A
- NM_001407642.1:c.5500G>A
- NM_001407644.1:c.5497G>A
- NM_001407645.1:c.5497G>A
- NM_001407646.1:c.5494G>A
- NM_001407647.1:c.5491G>A
- NM_001407648.1:c.5449G>A
- NM_001407649.1:c.5446G>A
- NM_001407652.1:c.5428G>A
- NM_001407653.1:c.5428G>A
- NM_001407654.1:c.5428G>A
- NM_001407655.1:c.5428G>A
- NM_001407656.1:c.5425G>A
- NM_001407657.1:c.5425G>A
- NM_001407658.1:c.5425G>A
- NM_001407659.1:c.5422G>A
- NM_001407660.1:c.5422G>A
- NM_001407661.1:c.5422G>A
- NM_001407662.1:c.5422G>A
- NM_001407663.1:c.5422G>A
- NM_001407664.1:c.5383G>A
- NM_001407665.1:c.5383G>A
- NM_001407666.1:c.5383G>A
- NM_001407667.1:c.5383G>A
- NM_001407668.1:c.5383G>A
- NM_001407669.1:c.5383G>A
- NM_001407670.1:c.5380G>A
- NM_001407671.1:c.5380G>A
- NM_001407672.1:c.5380G>A
- NM_001407673.1:c.5380G>A
- NM_001407674.1:c.5380G>A
- NM_001407675.1:c.5380G>A
- NM_001407676.1:c.5380G>A
- NM_001407677.1:c.5380G>A
- NM_001407678.1:c.5380G>A
- NM_001407679.1:c.5380G>A
- NM_001407680.1:c.5380G>A
- NM_001407681.1:c.5377G>A
- NM_001407682.1:c.5377G>A
- NM_001407683.1:c.5377G>A
- NM_001407684.1:c.5377G>A
- NM_001407685.1:c.5377G>A
- NM_001407686.1:c.5377G>A
- NM_001407687.1:c.5377G>A
- NM_001407688.1:c.5377G>A
- NM_001407689.1:c.5377G>A
- NM_001407690.1:c.5374G>A
- NM_001407691.1:c.5374G>A
- NM_001407692.1:c.5365G>A
- NM_001407694.1:c.5365G>A
- NM_001407695.1:c.5365G>A
- NM_001407696.1:c.5365G>A
- NM_001407697.1:c.5365G>A
- NM_001407698.1:c.5365G>A
- NM_001407724.1:c.5365G>A
- NM_001407725.1:c.5365G>A
- NM_001407726.1:c.5365G>A
- NM_001407727.1:c.5365G>A
- NM_001407728.1:c.5365G>A
- NM_001407729.1:c.5365G>A
- NM_001407730.1:c.5365G>A
- NM_001407731.1:c.5365G>A
- NM_001407732.1:c.5362G>A
- NM_001407733.1:c.5362G>A
- NM_001407734.1:c.5362G>A
- NM_001407735.1:c.5362G>A
- NM_001407736.1:c.5362G>A
- NM_001407737.1:c.5362G>A
- NM_001407738.1:c.5362G>A
- NM_001407739.1:c.5362G>A
- NM_001407740.1:c.5362G>A
- NM_001407741.1:c.5362G>A
- NM_001407742.1:c.5362G>A
- NM_001407743.1:c.5362G>A
- NM_001407744.1:c.5362G>A
- NM_001407745.1:c.5362G>A
- NM_001407746.1:c.5362G>A
- NM_001407747.1:c.5362G>A
- NM_001407748.1:c.5362G>A
- NM_001407749.1:c.5362G>A
- NM_001407750.1:c.5362G>A
- NM_001407751.1:c.5362G>A
- NM_001407752.1:c.5362G>A
- NM_001407838.1:c.5359G>A
- NM_001407839.1:c.5359G>A
- NM_001407841.1:c.5359G>A
- NM_001407842.1:c.5359G>A
- NM_001407843.1:c.5359G>A
- NM_001407844.1:c.5359G>A
- NM_001407845.1:c.5359G>A
- NM_001407846.1:c.5359G>A
- NM_001407847.1:c.5359G>A
- NM_001407848.1:c.5359G>A
- NM_001407849.1:c.5359G>A
- NM_001407850.1:c.5359G>A
- NM_001407851.1:c.5359G>A
- NM_001407852.1:c.5359G>A
- NM_001407853.1:c.5359G>A
- NM_001407854.1:c.*20G>A
- NM_001407858.1:c.*20G>A
- NM_001407859.1:c.*20G>A
- NM_001407860.1:c.*20G>A
- NM_001407861.1:c.*20G>A
- NM_001407862.1:c.5305G>A
- NM_001407863.1:c.5302G>A
- NM_001407874.1:c.5299G>A
- NM_001407875.1:c.5299G>A
- NM_001407879.1:c.5296G>A
- NM_001407881.1:c.5296G>A
- NM_001407882.1:c.5296G>A
- NM_001407884.1:c.5296G>A
- NM_001407885.1:c.5296G>A
- NM_001407886.1:c.5296G>A
- NM_001407887.1:c.5296G>A
- NM_001407889.1:c.5296G>A
- NM_001407894.1:c.5293G>A
- NM_001407895.1:c.5293G>A
- NM_001407896.1:c.5293G>A
- NM_001407897.1:c.5293G>A
- NM_001407898.1:c.5293G>A
- NM_001407899.1:c.5293G>A
- NM_001407900.1:c.5293G>A
- NM_001407902.1:c.5293G>A
- NM_001407904.1:c.5293G>A
- NM_001407906.1:c.5293G>A
- NM_001407907.1:c.5293G>A
- NM_001407908.1:c.5293G>A
- NM_001407909.1:c.5293G>A
- NM_001407910.1:c.5293G>A
- NM_001407915.1:c.5290G>A
- NM_001407916.1:c.5290G>A
- NM_001407917.1:c.5290G>A
- NM_001407918.1:c.5290G>A
- NM_001407919.1:c.5254G>A
- NM_001407920.1:c.5242G>A
- NM_001407921.1:c.5242G>A
- NM_001407922.1:c.5242G>A
- NM_001407923.1:c.5242G>A
- NM_001407924.1:c.5242G>A
- NM_001407925.1:c.5242G>A
- NM_001407926.1:c.5242G>A
- NM_001407927.1:c.5239G>A
- NM_001407928.1:c.5239G>A
- NM_001407929.1:c.5239G>A
- NM_001407930.1:c.5239G>A
- NM_001407931.1:c.5239G>A
- NM_001407932.1:c.5239G>A
- NM_001407933.1:c.5239G>A
- NM_001407934.1:c.5236G>A
- NM_001407935.1:c.5236G>A
- NM_001407936.1:c.5236G>A
- NM_001407937.1:c.*20G>A
- NM_001407938.1:c.*20G>A
- NM_001407939.1:c.*20G>A
- NM_001407940.1:c.*20G>A
- NM_001407941.1:c.*20G>A
- NM_001407942.1:c.*20G>A
- NM_001407943.1:c.*20G>A
- NM_001407944.1:c.*20G>A
- NM_001407945.1:c.*20G>A
- NM_001407946.1:c.5173G>A
- NM_001407947.1:c.5173G>A
- NM_001407948.1:c.5173G>A
- NM_001407949.1:c.5173G>A
- NM_001407950.1:c.5170G>A
- NM_001407951.1:c.5170G>A
- NM_001407952.1:c.5170G>A
- NM_001407953.1:c.5170G>A
- NM_001407954.1:c.5170G>A
- NM_001407955.1:c.5170G>A
- NM_001407956.1:c.5167G>A
- NM_001407957.1:c.5167G>A
- NM_001407958.1:c.5167G>A
- NM_001407959.1:c.5125G>A
- NM_001407960.1:c.5122G>A
- NM_001407962.1:c.5122G>A
- NM_001407963.1:c.5119G>A
- NM_001407964.1:c.5044G>A
- NM_001407965.1:c.4999G>A
- NM_001407966.1:c.4618G>A
- NM_001407967.1:c.4615G>A
- NM_001407968.1:c.2902G>A
- NM_001407969.1:c.2899G>A
- NM_001407970.1:c.2263G>A
- NM_001407971.1:c.2263G>A
- NM_001407972.1:c.2260G>A
- NM_001407973.1:c.2197G>A
- NM_001407974.1:c.2197G>A
- NM_001407975.1:c.2197G>A
- NM_001407976.1:c.2197G>A
- NM_001407977.1:c.2197G>A
- NM_001407978.1:c.2197G>A
- NM_001407979.1:c.2194G>A
- NM_001407980.1:c.2194G>A
- NM_001407981.1:c.2194G>A
- NM_001407982.1:c.2194G>A
- NM_001407983.1:c.2194G>A
- NM_001407984.1:c.2194G>A
- NM_001407985.1:c.2194G>A
- NM_001407986.1:c.2194G>A
- NM_001407990.1:c.2194G>A
- NM_001407991.1:c.2194G>A
- NM_001407992.1:c.2194G>A
- NM_001407993.1:c.2194G>A
- NM_001408392.1:c.2191G>A
- NM_001408396.1:c.2191G>A
- NM_001408397.1:c.2191G>A
- NM_001408398.1:c.2191G>A
- NM_001408399.1:c.2191G>A
- NM_001408400.1:c.2191G>A
- NM_001408401.1:c.2191G>A
- NM_001408402.1:c.2191G>A
- NM_001408403.1:c.2191G>A
- NM_001408404.1:c.2191G>A
- NM_001408406.1:c.2188G>A
- NM_001408407.1:c.2188G>A
- NM_001408408.1:c.2188G>A
- NM_001408409.1:c.2185G>A
- NM_001408410.1:c.2122G>A
- NM_001408411.1:c.2119G>A
- NM_001408412.1:c.2116G>A
- NM_001408413.1:c.2116G>A
- NM_001408414.1:c.2116G>A
- NM_001408415.1:c.2116G>A
- NM_001408416.1:c.2116G>A
- NM_001408418.1:c.2080G>A
- NM_001408419.1:c.2080G>A
- NM_001408420.1:c.2080G>A
- NM_001408421.1:c.2077G>A
- NM_001408422.1:c.2077G>A
- NM_001408423.1:c.2077G>A
- NM_001408424.1:c.2077G>A
- NM_001408425.1:c.2074G>A
- NM_001408426.1:c.2074G>A
- NM_001408427.1:c.2074G>A
- NM_001408428.1:c.2074G>A
- NM_001408429.1:c.2074G>A
- NM_001408430.1:c.2074G>A
- NM_001408431.1:c.2074G>A
- NM_001408432.1:c.2071G>A
- NM_001408433.1:c.2071G>A
- NM_001408434.1:c.2071G>A
- NM_001408435.1:c.2071G>A
- NM_001408436.1:c.2071G>A
- NM_001408437.1:c.2071G>A
- NM_001408438.1:c.2071G>A
- NM_001408439.1:c.2071G>A
- NM_001408440.1:c.2071G>A
- NM_001408441.1:c.2071G>A
- NM_001408442.1:c.2071G>A
- NM_001408443.1:c.2071G>A
- NM_001408444.1:c.2071G>A
- NM_001408445.1:c.2068G>A
- NM_001408446.1:c.2068G>A
- NM_001408447.1:c.2068G>A
- NM_001408448.1:c.2068G>A
- NM_001408450.1:c.2068G>A
- NM_001408451.1:c.2062G>A
- NM_001408452.1:c.2056G>A
- NM_001408453.1:c.2056G>A
- NM_001408454.1:c.2056G>A
- NM_001408455.1:c.2056G>A
- NM_001408456.1:c.2056G>A
- NM_001408457.1:c.2056G>A
- NM_001408458.1:c.2053G>A
- NM_001408459.1:c.2053G>A
- NM_001408460.1:c.2053G>A
- NM_001408461.1:c.2053G>A
- NM_001408462.1:c.2053G>A
- NM_001408463.1:c.2053G>A
- NM_001408464.1:c.2053G>A
- NM_001408465.1:c.2053G>A
- NM_001408466.1:c.2053G>A
- NM_001408467.1:c.2053G>A
- NM_001408468.1:c.2050G>A
- NM_001408469.1:c.2050G>A
- NM_001408470.1:c.2050G>A
- NM_001408472.1:c.*20G>A
- NM_001408473.1:c.*20G>A
- NM_001408474.1:c.1996G>A
- NM_001408475.1:c.1993G>A
- NM_001408476.1:c.1993G>A
- NM_001408478.1:c.1987G>A
- NM_001408479.1:c.1987G>A
- NM_001408480.1:c.1987G>A
- NM_001408481.1:c.1984G>A
- NM_001408482.1:c.1984G>A
- NM_001408483.1:c.1984G>A
- NM_001408484.1:c.1984G>A
- NM_001408485.1:c.1984G>A
- NM_001408489.1:c.1984G>A
- NM_001408490.1:c.1984G>A
- NM_001408491.1:c.1984G>A
- NM_001408492.1:c.1981G>A
- NM_001408493.1:c.1981G>A
- NM_001408494.1:c.1957G>A
- NM_001408495.1:c.1951G>A
- NM_001408496.1:c.1933G>A
- NM_001408497.1:c.1933G>A
- NM_001408498.1:c.1933G>A
- NM_001408499.1:c.1933G>A
- NM_001408500.1:c.1933G>A
- NM_001408501.1:c.1933G>A
- NM_001408502.1:c.1930G>A
- NM_001408503.1:c.1930G>A
- NM_001408504.1:c.1930G>A
- NM_001408505.1:c.1927G>A
- NM_001408506.1:c.1870G>A
- NM_001408507.1:c.1867G>A
- NM_001408508.1:c.1858G>A
- NM_001408509.1:c.1855G>A
- NM_001408510.1:c.1816G>A
- NM_001408511.1:c.1813G>A
- NM_001408512.1:c.1693G>A
- NM_001408513.1:c.1666G>A
- NM_001408514.1:c.1270G>A
- NM_007294.4:c.5506G>AMANE SELECT
- NM_007297.4:c.5365G>A
- NM_007298.4:c.2194G>A
- NM_007299.4:c.*20G>A
- NM_007300.4:c.5569G>A
- NM_007304.2:c.2194G>A
- NP_001394500.1:p.Glu1765Lys
- NP_001394510.1:p.Glu1858Lys
- NP_001394511.1:p.Glu1858Lys
- NP_001394512.1:p.Glu1857Lys
- NP_001394514.1:p.Glu1857Lys
- NP_001394516.1:p.Glu1857Lys
- NP_001394519.1:p.Glu1856Lys
- NP_001394520.1:p.Glu1856Lys
- NP_001394522.1:p.Glu1836Lys
- NP_001394523.1:p.Glu1836Lys
- NP_001394525.1:p.Glu1836Lys
- NP_001394526.1:p.Glu1836Lys
- NP_001394527.1:p.Glu1836Lys
- NP_001394531.1:p.Glu1836Lys
- NP_001394532.1:p.Glu1836Lys
- NP_001394534.1:p.Glu1836Lys
- NP_001394539.1:p.Glu1835Lys
- NP_001394540.1:p.Glu1835Lys
- NP_001394541.1:p.Glu1835Lys
- NP_001394542.1:p.Glu1835Lys
- NP_001394543.1:p.Glu1835Lys
- NP_001394544.1:p.Glu1835Lys
- NP_001394545.1:p.Glu1835Lys
- NP_001394546.1:p.Glu1835Lys
- NP_001394547.1:p.Glu1835Lys
- NP_001394548.1:p.Glu1835Lys
- NP_001394549.1:p.Glu1835Lys
- NP_001394550.1:p.Glu1835Lys
- NP_001394551.1:p.Glu1835Lys
- NP_001394552.1:p.Glu1835Lys
- NP_001394553.1:p.Glu1835Lys
- NP_001394554.1:p.Glu1835Lys
- NP_001394555.1:p.Glu1835Lys
- NP_001394556.1:p.Glu1834Lys
- NP_001394557.1:p.Glu1834Lys
- NP_001394558.1:p.Glu1834Lys
- NP_001394559.1:p.Glu1834Lys
- NP_001394560.1:p.Glu1834Lys
- NP_001394561.1:p.Glu1834Lys
- NP_001394562.1:p.Glu1834Lys
- NP_001394563.1:p.Glu1834Lys
- NP_001394564.1:p.Glu1834Lys
- NP_001394565.1:p.Glu1834Lys
- NP_001394566.1:p.Glu1834Lys
- NP_001394567.1:p.Glu1834Lys
- NP_001394568.1:p.Glu1834Lys
- NP_001394569.1:p.Glu1834Lys
- NP_001394570.1:p.Glu1834Lys
- NP_001394571.1:p.Glu1834Lys
- NP_001394573.1:p.Glu1833Lys
- NP_001394574.1:p.Glu1833Lys
- NP_001394575.1:p.Glu1832Lys
- NP_001394576.1:p.Glu1831Lys
- NP_001394577.1:p.Glu1817Lys
- NP_001394578.1:p.Glu1816Lys
- NP_001394581.1:p.Glu1810Lys
- NP_001394582.1:p.Glu1810Lys
- NP_001394583.1:p.Glu1810Lys
- NP_001394584.1:p.Glu1810Lys
- NP_001394585.1:p.Glu1809Lys
- NP_001394586.1:p.Glu1809Lys
- NP_001394587.1:p.Glu1809Lys
- NP_001394588.1:p.Glu1808Lys
- NP_001394589.1:p.Glu1808Lys
- NP_001394590.1:p.Glu1808Lys
- NP_001394591.1:p.Glu1808Lys
- NP_001394592.1:p.Glu1808Lys
- NP_001394593.1:p.Glu1795Lys
- NP_001394594.1:p.Glu1795Lys
- NP_001394595.1:p.Glu1795Lys
- NP_001394596.1:p.Glu1795Lys
- NP_001394597.1:p.Glu1795Lys
- NP_001394598.1:p.Glu1795Lys
- NP_001394599.1:p.Glu1794Lys
- NP_001394600.1:p.Glu1794Lys
- NP_001394601.1:p.Glu1794Lys
- NP_001394602.1:p.Glu1794Lys
- NP_001394603.1:p.Glu1794Lys
- NP_001394604.1:p.Glu1794Lys
- NP_001394605.1:p.Glu1794Lys
- NP_001394606.1:p.Glu1794Lys
- NP_001394607.1:p.Glu1794Lys
- NP_001394608.1:p.Glu1794Lys
- NP_001394609.1:p.Glu1794Lys
- NP_001394610.1:p.Glu1793Lys
- NP_001394611.1:p.Glu1793Lys
- NP_001394612.1:p.Glu1793Lys
- NP_001394613.1:p.Glu1793Lys
- NP_001394614.1:p.Glu1793Lys
- NP_001394615.1:p.Glu1793Lys
- NP_001394616.1:p.Glu1793Lys
- NP_001394617.1:p.Glu1793Lys
- NP_001394618.1:p.Glu1793Lys
- NP_001394619.1:p.Glu1792Lys
- NP_001394620.1:p.Glu1792Lys
- NP_001394621.1:p.Glu1789Lys
- NP_001394623.1:p.Glu1789Lys
- NP_001394624.1:p.Glu1789Lys
- NP_001394625.1:p.Glu1789Lys
- NP_001394626.1:p.Glu1789Lys
- NP_001394627.1:p.Glu1789Lys
- NP_001394653.1:p.Glu1789Lys
- NP_001394654.1:p.Glu1789Lys
- NP_001394655.1:p.Glu1789Lys
- NP_001394656.1:p.Glu1789Lys
- NP_001394657.1:p.Glu1789Lys
- NP_001394658.1:p.Glu1789Lys
- NP_001394659.1:p.Glu1789Lys
- NP_001394660.1:p.Glu1789Lys
- NP_001394661.1:p.Glu1788Lys
- NP_001394662.1:p.Glu1788Lys
- NP_001394663.1:p.Glu1788Lys
- NP_001394664.1:p.Glu1788Lys
- NP_001394665.1:p.Glu1788Lys
- NP_001394666.1:p.Glu1788Lys
- NP_001394667.1:p.Glu1788Lys
- NP_001394668.1:p.Glu1788Lys
- NP_001394669.1:p.Glu1788Lys
- NP_001394670.1:p.Glu1788Lys
- NP_001394671.1:p.Glu1788Lys
- NP_001394672.1:p.Glu1788Lys
- NP_001394673.1:p.Glu1788Lys
- NP_001394674.1:p.Glu1788Lys
- NP_001394675.1:p.Glu1788Lys
- NP_001394676.1:p.Glu1788Lys
- NP_001394677.1:p.Glu1788Lys
- NP_001394678.1:p.Glu1788Lys
- NP_001394679.1:p.Glu1788Lys
- NP_001394680.1:p.Glu1788Lys
- NP_001394681.1:p.Glu1788Lys
- NP_001394767.1:p.Glu1787Lys
- NP_001394768.1:p.Glu1787Lys
- NP_001394770.1:p.Glu1787Lys
- NP_001394771.1:p.Glu1787Lys
- NP_001394772.1:p.Glu1787Lys
- NP_001394773.1:p.Glu1787Lys
- NP_001394774.1:p.Glu1787Lys
- NP_001394775.1:p.Glu1787Lys
- NP_001394776.1:p.Glu1787Lys
- NP_001394777.1:p.Glu1787Lys
- NP_001394778.1:p.Glu1787Lys
- NP_001394779.1:p.Glu1787Lys
- NP_001394780.1:p.Glu1787Lys
- NP_001394781.1:p.Glu1787Lys
- NP_001394782.1:p.Glu1787Lys
- NP_001394791.1:p.Glu1769Lys
- NP_001394792.1:p.Glu1768Lys
- NP_001394803.1:p.Glu1767Lys
- NP_001394804.1:p.Glu1767Lys
- NP_001394808.1:p.Glu1766Lys
- NP_001394810.1:p.Glu1766Lys
- NP_001394811.1:p.Glu1766Lys
- NP_001394813.1:p.Glu1766Lys
- NP_001394814.1:p.Glu1766Lys
- NP_001394815.1:p.Glu1766Lys
- NP_001394816.1:p.Glu1766Lys
- NP_001394818.1:p.Glu1766Lys
- NP_001394823.1:p.Glu1765Lys
- NP_001394824.1:p.Glu1765Lys
- NP_001394825.1:p.Glu1765Lys
- NP_001394826.1:p.Glu1765Lys
- NP_001394827.1:p.Glu1765Lys
- NP_001394828.1:p.Glu1765Lys
- NP_001394829.1:p.Glu1765Lys
- NP_001394831.1:p.Glu1765Lys
- NP_001394833.1:p.Glu1765Lys
- NP_001394835.1:p.Glu1765Lys
- NP_001394836.1:p.Glu1765Lys
- NP_001394837.1:p.Glu1765Lys
- NP_001394838.1:p.Glu1765Lys
- NP_001394839.1:p.Glu1765Lys
- NP_001394844.1:p.Glu1764Lys
- NP_001394845.1:p.Glu1764Lys
- NP_001394846.1:p.Glu1764Lys
- NP_001394847.1:p.Glu1764Lys
- NP_001394848.1:p.Glu1752Lys
- NP_001394849.1:p.Glu1748Lys
- NP_001394850.1:p.Glu1748Lys
- NP_001394851.1:p.Glu1748Lys
- NP_001394852.1:p.Glu1748Lys
- NP_001394853.1:p.Glu1748Lys
- NP_001394854.1:p.Glu1748Lys
- NP_001394855.1:p.Glu1748Lys
- NP_001394856.1:p.Glu1747Lys
- NP_001394857.1:p.Glu1747Lys
- NP_001394858.1:p.Glu1747Lys
- NP_001394859.1:p.Glu1747Lys
- NP_001394860.1:p.Glu1747Lys
- NP_001394861.1:p.Glu1747Lys
- NP_001394862.1:p.Glu1747Lys
- NP_001394863.1:p.Glu1746Lys
- NP_001394864.1:p.Glu1746Lys
- NP_001394865.1:p.Glu1746Lys
- NP_001394875.1:p.Glu1725Lys
- NP_001394876.1:p.Glu1725Lys
- NP_001394877.1:p.Glu1725Lys
- NP_001394878.1:p.Glu1725Lys
- NP_001394879.1:p.Glu1724Lys
- NP_001394880.1:p.Glu1724Lys
- NP_001394881.1:p.Glu1724Lys
- NP_001394882.1:p.Glu1724Lys
- NP_001394883.1:p.Glu1724Lys
- NP_001394884.1:p.Glu1724Lys
- NP_001394885.1:p.Glu1723Lys
- NP_001394886.1:p.Glu1723Lys
- NP_001394887.1:p.Glu1723Lys
- NP_001394888.1:p.Glu1709Lys
- NP_001394889.1:p.Glu1708Lys
- NP_001394891.1:p.Glu1708Lys
- NP_001394892.1:p.Glu1707Lys
- NP_001394893.1:p.Glu1682Lys
- NP_001394894.1:p.Glu1667Lys
- NP_001394895.1:p.Glu1540Lys
- NP_001394896.1:p.Glu1539Lys
- NP_001394897.1:p.Glu968Lys
- NP_001394898.1:p.Glu967Lys
- NP_001394899.1:p.Glu755Lys
- NP_001394900.1:p.Glu755Lys
- NP_001394901.1:p.Glu754Lys
- NP_001394902.1:p.Glu733Lys
- NP_001394903.1:p.Glu733Lys
- NP_001394904.1:p.Glu733Lys
- NP_001394905.1:p.Glu733Lys
- NP_001394906.1:p.Glu733Lys
- NP_001394907.1:p.Glu733Lys
- NP_001394908.1:p.Glu732Lys
- NP_001394909.1:p.Glu732Lys
- NP_001394910.1:p.Glu732Lys
- NP_001394911.1:p.Glu732Lys
- NP_001394912.1:p.Glu732Lys
- NP_001394913.1:p.Glu732Lys
- NP_001394914.1:p.Glu732Lys
- NP_001394915.1:p.Glu732Lys
- NP_001394919.1:p.Glu732Lys
- NP_001394920.1:p.Glu732Lys
- NP_001394921.1:p.Glu732Lys
- NP_001394922.1:p.Glu732Lys
- NP_001395321.1:p.Glu731Lys
- NP_001395325.1:p.Glu731Lys
- NP_001395326.1:p.Glu731Lys
- NP_001395327.1:p.Glu731Lys
- NP_001395328.1:p.Glu731Lys
- NP_001395329.1:p.Glu731Lys
- NP_001395330.1:p.Glu731Lys
- NP_001395331.1:p.Glu731Lys
- NP_001395332.1:p.Glu731Lys
- NP_001395333.1:p.Glu731Lys
- NP_001395335.1:p.Glu730Lys
- NP_001395336.1:p.Glu730Lys
- NP_001395337.1:p.Glu730Lys
- NP_001395338.1:p.Glu729Lys
- NP_001395339.1:p.Glu708Lys
- NP_001395340.1:p.Glu707Lys
- NP_001395341.1:p.Glu706Lys
- NP_001395342.1:p.Glu706Lys
- NP_001395343.1:p.Glu706Lys
- NP_001395344.1:p.Glu706Lys
- NP_001395345.1:p.Glu706Lys
- NP_001395347.1:p.Glu694Lys
- NP_001395348.1:p.Glu694Lys
- NP_001395349.1:p.Glu694Lys
- NP_001395350.1:p.Glu693Lys
- NP_001395351.1:p.Glu693Lys
- NP_001395352.1:p.Glu693Lys
- NP_001395353.1:p.Glu693Lys
- NP_001395354.1:p.Glu692Lys
- NP_001395355.1:p.Glu692Lys
- NP_001395356.1:p.Glu692Lys
- NP_001395357.1:p.Glu692Lys
- NP_001395358.1:p.Glu692Lys
- NP_001395359.1:p.Glu692Lys
- NP_001395360.1:p.Glu692Lys
- NP_001395361.1:p.Glu691Lys
- NP_001395362.1:p.Glu691Lys
- NP_001395363.1:p.Glu691Lys
- NP_001395364.1:p.Glu691Lys
- NP_001395365.1:p.Glu691Lys
- NP_001395366.1:p.Glu691Lys
- NP_001395367.1:p.Glu691Lys
- NP_001395368.1:p.Glu691Lys
- NP_001395369.1:p.Glu691Lys
- NP_001395370.1:p.Glu691Lys
- NP_001395371.1:p.Glu691Lys
- NP_001395372.1:p.Glu691Lys
- NP_001395373.1:p.Glu691Lys
- NP_001395374.1:p.Glu690Lys
- NP_001395375.1:p.Glu690Lys
- NP_001395376.1:p.Glu690Lys
- NP_001395377.1:p.Glu690Lys
- NP_001395379.1:p.Glu690Lys
- NP_001395380.1:p.Glu688Lys
- NP_001395381.1:p.Glu686Lys
- NP_001395382.1:p.Glu686Lys
- NP_001395383.1:p.Glu686Lys
- NP_001395384.1:p.Glu686Lys
- NP_001395385.1:p.Glu686Lys
- NP_001395386.1:p.Glu686Lys
- NP_001395387.1:p.Glu685Lys
- NP_001395388.1:p.Glu685Lys
- NP_001395389.1:p.Glu685Lys
- NP_001395390.1:p.Glu685Lys
- NP_001395391.1:p.Glu685Lys
- NP_001395392.1:p.Glu685Lys
- NP_001395393.1:p.Glu685Lys
- NP_001395394.1:p.Glu685Lys
- NP_001395395.1:p.Glu685Lys
- NP_001395396.1:p.Glu685Lys
- NP_001395397.1:p.Glu684Lys
- NP_001395398.1:p.Glu684Lys
- NP_001395399.1:p.Glu684Lys
- NP_001395403.1:p.Glu666Lys
- NP_001395404.1:p.Glu665Lys
- NP_001395405.1:p.Glu665Lys
- NP_001395407.1:p.Glu663Lys
- NP_001395408.1:p.Glu663Lys
- NP_001395409.1:p.Glu663Lys
- NP_001395410.1:p.Glu662Lys
- NP_001395411.1:p.Glu662Lys
- NP_001395412.1:p.Glu662Lys
- NP_001395413.1:p.Glu662Lys
- NP_001395414.1:p.Glu662Lys
- NP_001395418.1:p.Glu662Lys
- NP_001395419.1:p.Glu662Lys
- NP_001395420.1:p.Glu662Lys
- NP_001395421.1:p.Glu661Lys
- NP_001395422.1:p.Glu661Lys
- NP_001395423.1:p.Glu653Lys
- NP_001395424.1:p.Glu651Lys
- NP_001395425.1:p.Glu645Lys
- NP_001395426.1:p.Glu645Lys
- NP_001395427.1:p.Glu645Lys
- NP_001395428.1:p.Glu645Lys
- NP_001395429.1:p.Glu645Lys
- NP_001395430.1:p.Glu645Lys
- NP_001395431.1:p.Glu644Lys
- NP_001395432.1:p.Glu644Lys
- NP_001395433.1:p.Glu644Lys
- NP_001395434.1:p.Glu643Lys
- NP_001395435.1:p.Glu624Lys
- NP_001395436.1:p.Glu623Lys
- NP_001395437.1:p.Glu620Lys
- NP_001395438.1:p.Glu619Lys
- NP_001395439.1:p.Glu606Lys
- NP_001395440.1:p.Glu605Lys
- NP_001395441.1:p.Glu565Lys
- NP_001395442.1:p.Glu556Lys
- NP_001395443.1:p.Glu424Lys
- NP_009225.1:p.Glu1836Lys
- NP_009225.1:p.Glu1836Lys
- NP_009228.2:p.Glu1789Lys
- NP_009229.2:p.Glu732Lys
- NP_009229.2:p.Glu732Lys
- NP_009231.2:p.Glu1857Lys
- NP_009235.2:p.Glu732Lys
- LRG_292t1:c.5506G>A
- LRG_292:g.172220G>A
- LRG_292p1:p.Glu1836Lys
- NC_000017.10:g.41197781C>T
- NM_007294.3:c.5506G>A
- NM_007298.3:c.2194G>A
- NR_027676.2:n.5683G>A
- U14680.1:n.5625G>A
This HGVS expression did not pass validation- Protein change:
- E1539K
- Links:
- dbSNP: rs80356942
- NCBI 1000 Genomes Browser:
- rs80356942
- Molecular consequence:
- NM_007299.4:c.*20G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
- NM_001407571.1:c.5293G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407581.1:c.5572G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407582.1:c.5572G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407583.1:c.5569G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407585.1:c.5569G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407587.1:c.5569G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407590.1:c.5566G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407591.1:c.5566G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407593.1:c.5506G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407594.1:c.5506G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407596.1:c.5506G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407597.1:c.5506G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407598.1:c.5506G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407602.1:c.5506G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407603.1:c.5506G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407605.1:c.5506G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407610.1:c.5503G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407611.1:c.5503G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407612.1:c.5503G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407613.1:c.5503G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407614.1:c.5503G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407615.1:c.5503G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407616.1:c.5503G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407617.1:c.5503G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407618.1:c.5503G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407619.1:c.5503G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407620.1:c.5503G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407621.1:c.5503G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407622.1:c.5503G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407623.1:c.5503G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407624.1:c.5503G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407625.1:c.5503G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407626.1:c.5503G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407627.1:c.5500G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407628.1:c.5500G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407629.1:c.5500G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407630.1:c.5500G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407631.1:c.5500G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407632.1:c.5500G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407633.1:c.5500G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407634.1:c.5500G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407635.1:c.5500G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407636.1:c.5500G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407637.1:c.5500G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407638.1:c.5500G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407639.1:c.5500G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407640.1:c.5500G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407641.1:c.5500G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407642.1:c.5500G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407644.1:c.5497G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407645.1:c.5497G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407646.1:c.5494G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407647.1:c.5491G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407648.1:c.5449G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407649.1:c.5446G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407652.1:c.5428G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407653.1:c.5428G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407654.1:c.5428G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407655.1:c.5428G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407656.1:c.5425G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407657.1:c.5425G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407658.1:c.5425G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407659.1:c.5422G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407660.1:c.5422G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407661.1:c.5422G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407662.1:c.5422G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407663.1:c.5422G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407664.1:c.5383G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407665.1:c.5383G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407666.1:c.5383G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407667.1:c.5383G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407668.1:c.5383G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407669.1:c.5383G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407670.1:c.5380G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407671.1:c.5380G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407672.1:c.5380G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407673.1:c.5380G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407674.1:c.5380G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407675.1:c.5380G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407676.1:c.5380G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407677.1:c.5380G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407678.1:c.5380G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407679.1:c.5380G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407680.1:c.5380G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407681.1:c.5377G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407682.1:c.5377G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407683.1:c.5377G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407684.1:c.5377G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407685.1:c.5377G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407686.1:c.5377G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407687.1:c.5377G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407688.1:c.5377G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407689.1:c.5377G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407690.1:c.5374G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407691.1:c.5374G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407692.1:c.5365G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407694.1:c.5365G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407695.1:c.5365G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407696.1:c.5365G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407697.1:c.5365G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407698.1:c.5365G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407724.1:c.5365G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407725.1:c.5365G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407726.1:c.5365G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407727.1:c.5365G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407728.1:c.5365G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407729.1:c.5365G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407730.1:c.5365G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407731.1:c.5365G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407732.1:c.5362G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407733.1:c.5362G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407734.1:c.5362G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407735.1:c.5362G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407736.1:c.5362G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407737.1:c.5362G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407738.1:c.5362G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407739.1:c.5362G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407740.1:c.5362G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407741.1:c.5362G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407742.1:c.5362G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407743.1:c.5362G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407744.1:c.5362G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407745.1:c.5362G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407746.1:c.5362G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407747.1:c.5362G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407748.1:c.5362G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407749.1:c.5362G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407750.1:c.5362G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407751.1:c.5362G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407752.1:c.5362G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407838.1:c.5359G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407839.1:c.5359G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407841.1:c.5359G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407842.1:c.5359G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407843.1:c.5359G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407844.1:c.5359G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407845.1:c.5359G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407846.1:c.5359G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407847.1:c.5359G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407848.1:c.5359G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407849.1:c.5359G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407850.1:c.5359G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407851.1:c.5359G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407852.1:c.5359G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407853.1:c.5359G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407862.1:c.5305G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407863.1:c.5302G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407874.1:c.5299G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407875.1:c.5299G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407879.1:c.5296G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407881.1:c.5296G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407882.1:c.5296G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407884.1:c.5296G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407885.1:c.5296G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407886.1:c.5296G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407887.1:c.5296G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407889.1:c.5296G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407894.1:c.5293G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407895.1:c.5293G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407896.1:c.5293G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407897.1:c.5293G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407898.1:c.5293G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407899.1:c.5293G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407900.1:c.5293G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407902.1:c.5293G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407904.1:c.5293G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407906.1:c.5293G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407907.1:c.5293G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407908.1:c.5293G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407909.1:c.5293G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407910.1:c.5293G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407915.1:c.5290G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407916.1:c.5290G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407917.1:c.5290G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407918.1:c.5290G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407919.1:c.5254G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407920.1:c.5242G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407921.1:c.5242G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407922.1:c.5242G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407923.1:c.5242G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407924.1:c.5242G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407925.1:c.5242G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407926.1:c.5242G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407927.1:c.5239G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407928.1:c.5239G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407929.1:c.5239G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407930.1:c.5239G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407931.1:c.5239G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407932.1:c.5239G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407933.1:c.5239G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407934.1:c.5236G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407935.1:c.5236G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407936.1:c.5236G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407946.1:c.5173G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407947.1:c.5173G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407948.1:c.5173G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407949.1:c.5173G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407950.1:c.5170G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407951.1:c.5170G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407952.1:c.5170G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407953.1:c.5170G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407954.1:c.5170G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407955.1:c.5170G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407956.1:c.5167G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407957.1:c.5167G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407958.1:c.5167G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407959.1:c.5125G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407960.1:c.5122G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407962.1:c.5122G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407963.1:c.5119G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407964.1:c.5044G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407965.1:c.4999G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407966.1:c.4618G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407967.1:c.4615G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407968.1:c.2902G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407969.1:c.2899G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407970.1:c.2263G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407971.1:c.2263G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407972.1:c.2260G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407973.1:c.2197G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407974.1:c.2197G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407975.1:c.2197G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407976.1:c.2197G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407977.1:c.2197G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407978.1:c.2197G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407979.1:c.2194G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407980.1:c.2194G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407981.1:c.2194G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407982.1:c.2194G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407983.1:c.2194G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407984.1:c.2194G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407985.1:c.2194G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407986.1:c.2194G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407990.1:c.2194G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407991.1:c.2194G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407992.1:c.2194G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001407993.1:c.2194G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408392.1:c.2191G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408396.1:c.2191G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408397.1:c.2191G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408398.1:c.2191G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408399.1:c.2191G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408400.1:c.2191G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408401.1:c.2191G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408402.1:c.2191G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408403.1:c.2191G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408404.1:c.2191G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408406.1:c.2188G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408407.1:c.2188G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408408.1:c.2188G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408409.1:c.2185G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408410.1:c.2122G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408411.1:c.2119G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408412.1:c.2116G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408413.1:c.2116G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408414.1:c.2116G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408415.1:c.2116G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408416.1:c.2116G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408418.1:c.2080G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408419.1:c.2080G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408420.1:c.2080G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408421.1:c.2077G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408422.1:c.2077G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408423.1:c.2077G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408424.1:c.2077G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408425.1:c.2074G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408426.1:c.2074G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408427.1:c.2074G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408428.1:c.2074G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408429.1:c.2074G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408430.1:c.2074G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408431.1:c.2074G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408432.1:c.2071G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408433.1:c.2071G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408434.1:c.2071G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408435.1:c.2071G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408436.1:c.2071G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408437.1:c.2071G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408438.1:c.2071G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408439.1:c.2071G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408440.1:c.2071G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408441.1:c.2071G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408442.1:c.2071G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408443.1:c.2071G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408444.1:c.2071G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408445.1:c.2068G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408446.1:c.2068G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408447.1:c.2068G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408448.1:c.2068G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408450.1:c.2068G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408451.1:c.2062G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408452.1:c.2056G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408453.1:c.2056G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408454.1:c.2056G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408455.1:c.2056G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408456.1:c.2056G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408457.1:c.2056G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408458.1:c.2053G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408459.1:c.2053G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408460.1:c.2053G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408461.1:c.2053G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408462.1:c.2053G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408463.1:c.2053G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408464.1:c.2053G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408465.1:c.2053G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408466.1:c.2053G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408467.1:c.2053G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408468.1:c.2050G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408469.1:c.2050G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408470.1:c.2050G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408474.1:c.1996G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408475.1:c.1993G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408476.1:c.1993G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408478.1:c.1987G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408479.1:c.1987G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408480.1:c.1987G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408481.1:c.1984G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408482.1:c.1984G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408483.1:c.1984G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408484.1:c.1984G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408485.1:c.1984G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408489.1:c.1984G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408490.1:c.1984G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408491.1:c.1984G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408492.1:c.1981G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408493.1:c.1981G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408494.1:c.1957G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408495.1:c.1951G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408496.1:c.1933G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408497.1:c.1933G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408498.1:c.1933G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408499.1:c.1933G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408500.1:c.1933G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408501.1:c.1933G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408502.1:c.1930G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408503.1:c.1930G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408504.1:c.1930G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408505.1:c.1927G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408506.1:c.1870G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408507.1:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408508.1:c.1858G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408509.1:c.1855G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408510.1:c.1816G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408511.1:c.1813G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408512.1:c.1693G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408513.1:c.1666G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001408514.1:c.1270G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007294.4:c.5506G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007297.4:c.5365G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007298.4:c.2194G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007300.4:c.5569G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_007304.2:c.2194G>A - missense variant - [Sequence Ontology: SO:0001583]
- NR_027676.2:n.5683G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- Functional consequence:
- functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)
- The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5506G>A, a MISSENSE variant, produced a function score of -0.3, corresponding to a functional classification of FUNCTIONAL. 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.
- Observations:
- 2
Condition(s)
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV000145554 | Breast Cancer Information Core (BIC) (BRCA1) | no assertion criteria provided | Uncertain significance (Nov 25, 2004) | germline | clinical testing | |
SCV001242060 | Brotman Baty Institute, University of Washington | no classification provided | not provided | not applicable | in vitro | |
SCV004817533 | All of Us Research Program, National Institutes of Health | criteria provided, single submitter (ACMG Guidelines, 2015) | Uncertain Significance (Dec 1, 2023) | germline | clinical testing | |
SCV005058240 | Baylor Genetics | criteria provided, single submitter (ACMG Guidelines, 2015) | Uncertain significance (Mar 1, 2024) | unknown | clinical testing | |
SCV005402709 | Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine | criteria provided, single submitter (Dawood et al. (medRxiv. 2024)) | Likely Benign (Apr 12, 2024) | germline | curation |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | germline | unknown | 1 | not provided | not provided | 108544 | not provided | clinical testing, curation |
not provided | unknown | unknown | not provided | not provided | not provided | not provided | not provided | clinical testing |
not provided | not applicable | not applicable | not provided | not provided | not provided | not provided | not provided | in vitro |
Western European | germline | yes | 1 | not provided | not provided | not provided | not provided | clinical testing |
Citations
PubMed
Lee MS, Green R, Marsillac SM, Coquelle N, Williams RS, Yeung T, Foo D, Hau DD, Hui B, Monteiro AN, Glover JN.
Cancer Res. 2010 Jun 15;70(12):4880-90. doi: 10.1158/0008-5472.CAN-09-4563. Epub 2010 Jun 1.
- PMID:
- 20516115
- PMCID:
- PMC3040717
Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition.
Coquelle N, Green R, Glover JN.
Biochemistry. 2011 May 31;50(21):4579-89. doi: 10.1021/bi2003795. Epub 2011 May 10.
- PMID:
- 21473589
- PMCID:
- PMC3100782
Details of each submission
From Breast Cancer Information Core (BIC) (BRCA1), SCV000145554.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | 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 | 1 | not provided | not provided | not provided |
From Brotman Baty Institute, University of Washington, SCV001242060.1
# | 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 All of Us Research Program, National Institutes of Health, SCV004817533.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | not provided | not provided | clinical testing | PubMed (4) |
Description
This missense variant replaces glutamic acid with lysine at codon 1836 of the BRCA1 protein. Computational prediction tool is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). Functional studies have reported discrepant findings on variant protein impacts, including modest (PMID: 21473589) to severe disruption (PMID: 20516115) in phosphopeptide binding activity, greater than 50% of wild-type transcriptional activation (PMID: 20516115), and normal function in complementing BRCA1 deficiency and rescue cell proliferation in haploid cells (PMID: 30209399). To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 2/251336 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | germline | unknown | 108544 | not provided | not provided | 1 | not provided | not provided | not provided |
From Baylor Genetics, SCV005058240.1
# | 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 Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV005402709.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | curation | PubMed (3) |
Description
Each variant was annotated with functional scores from MAVE data which was translated into functional evidence codes. All other evidence codes and combining criteria were adhered to as closely as possible based on the ClinGen VCEP (Variant Curation Expert Panel) gene-specific recommendations. See Supplemental Figure 34 of final paper (Supp Fig. 28 in preprint: doi:10.1101/2024.04.11.24305690) for a table to see which lines of evidence we did not have data for. The ClinGen VCEPs are highly regarded as the gold-standard for gene-specific variant curation and are developed after extensive evaluation of the evidence by clinical and scientific experts for the particular gene to classify genomic variants on a spectrum from pathogenic to benign using the 2015 ACMG/AMP Variant Interpretation Guidelines as a backbone (PMID: 25741868). Reclassification of these VUS variants from gnomAD or All of Us focused only on variants originally prescribed as VUS in ClinVar. To ensure reproducibility, transparency, and increased throughput, all the procedures for annotating variants and assigning evidence codes were codified using Python. All code has been made freely available and is linked in the Code Availability section and all reclassified variants with evidence codes used can be found in Tables S18-19 (preprint: doi:10.1101/2024.04.11.24305690). For the MAVE data, the clinical curation and clinical strength assignment as per the ClinGen recommendations in Brnich et al. (2020) (PMID: 31892348) for or against pathogenicity or benignity of each of these MAVE datasets utilized in this study were previously published in Fayer et al. (2021) (PMID: 34793697).In brief, for BRCA1 variants, if a variant was categorized as FUNC (functional), it was assigned BS3 evidence and no PS3 evidence, whereas if it was categorized as LOF (loss of function), the variant was assigned PS3 evidence and no BS3 evidence. Variants categorized as INT (intermediate) were left unannotated. For the BRCA1 combining criteria, greater than or equal to 1 criteria of strong benign evidence was enough to reclassify the VUS as Likely Benign. This variant GRCh37:17:41197781:C>T was assigned evidence codes ['BS3'] and an overall classification of Likely Benign
# | 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: Jan 19, 2025