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NM_007294.4(BRCA1):c.5506G>A (p.Glu1836Lys) AND Breast-ovarian cancer, familial, susceptibility to, 1

Germline classification:
Conflicting classifications of pathogenicity (5 submissions)
Last evaluated:
Apr 12, 2024
Review status:
criteria provided, conflicting classifications
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:
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
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)
Observations:
2

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000145554Breast Cancer Information Core (BIC) (BRCA1)
no assertion criteria provided
Uncertain significance
(Nov 25, 2004)
germlineclinical testing

SCV001242060Brotman Baty Institute, University of Washington
no classification provided
not providednot applicablein vitro

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

Citation Link,

SCV004817533All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain Significance
(Dec 1, 2023)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV005058240Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Mar 1, 2024)
unknownclinical testing

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

SCV005402709Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
criteria provided, single submitter

(Dawood et al. (medRxiv. 2024))
Likely Benign
(Apr 12, 2024)
germlinecuration

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

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.

PubMed [citation]
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.

PubMed [citation]
PMID:
21473589
PMCID:
PMC3100782
See all PubMed Citations (7)

Details of each submission

From Breast Cancer Information Core (BIC) (BRCA1), SCV000145554.1

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

From Brotman Baty Institute, University of Washington, SCV001242060.1

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

From All of Us Research Program, National Institutes of Health, SCV004817533.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided1not providednot providednot provided

From Baylor Genetics, SCV005058240.1

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

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV005402709.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration 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

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

Last Updated: Jan 19, 2025