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NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg) AND not provided

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Apr 14, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000501320.5

Allele description [Variation Report for NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg)]

NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg)

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.5521A>C (p.Ser1841Arg)
HGVS:
  • NC_000017.11:g.43045749T>G
  • NG_005905.2:g.172235A>C
  • NM_001407571.1:c.5308A>C
  • NM_001407581.1:c.5587A>C
  • NM_001407582.1:c.5587A>C
  • NM_001407583.1:c.5584A>C
  • NM_001407585.1:c.5584A>C
  • NM_001407587.1:c.5584A>C
  • NM_001407590.1:c.5581A>C
  • NM_001407591.1:c.5581A>C
  • NM_001407593.1:c.5521A>C
  • NM_001407594.1:c.5521A>C
  • NM_001407596.1:c.5521A>C
  • NM_001407597.1:c.5521A>C
  • NM_001407598.1:c.5521A>C
  • NM_001407602.1:c.5521A>C
  • NM_001407603.1:c.5521A>C
  • NM_001407605.1:c.5521A>C
  • NM_001407610.1:c.5518A>C
  • NM_001407611.1:c.5518A>C
  • NM_001407612.1:c.5518A>C
  • NM_001407613.1:c.5518A>C
  • NM_001407614.1:c.5518A>C
  • NM_001407615.1:c.5518A>C
  • NM_001407616.1:c.5518A>C
  • NM_001407617.1:c.5518A>C
  • NM_001407618.1:c.5518A>C
  • NM_001407619.1:c.5518A>C
  • NM_001407620.1:c.5518A>C
  • NM_001407621.1:c.5518A>C
  • NM_001407622.1:c.5518A>C
  • NM_001407623.1:c.5518A>C
  • NM_001407624.1:c.5518A>C
  • NM_001407625.1:c.5518A>C
  • NM_001407626.1:c.5518A>C
  • NM_001407627.1:c.5515A>C
  • NM_001407628.1:c.5515A>C
  • NM_001407629.1:c.5515A>C
  • NM_001407630.1:c.5515A>C
  • NM_001407631.1:c.5515A>C
  • NM_001407632.1:c.5515A>C
  • NM_001407633.1:c.5515A>C
  • NM_001407634.1:c.5515A>C
  • NM_001407635.1:c.5515A>C
  • NM_001407636.1:c.5515A>C
  • NM_001407637.1:c.5515A>C
  • NM_001407638.1:c.5515A>C
  • NM_001407639.1:c.5515A>C
  • NM_001407640.1:c.5515A>C
  • NM_001407641.1:c.5515A>C
  • NM_001407642.1:c.5515A>C
  • NM_001407644.1:c.5512A>C
  • NM_001407645.1:c.5512A>C
  • NM_001407646.1:c.5509A>C
  • NM_001407647.1:c.5506A>C
  • NM_001407648.1:c.5464A>C
  • NM_001407649.1:c.5461A>C
  • NM_001407652.1:c.5443A>C
  • NM_001407653.1:c.5443A>C
  • NM_001407654.1:c.5443A>C
  • NM_001407655.1:c.5443A>C
  • NM_001407656.1:c.5440A>C
  • NM_001407657.1:c.5440A>C
  • NM_001407658.1:c.5440A>C
  • NM_001407659.1:c.5437A>C
  • NM_001407660.1:c.5437A>C
  • NM_001407661.1:c.5437A>C
  • NM_001407662.1:c.5437A>C
  • NM_001407663.1:c.5437A>C
  • NM_001407664.1:c.5398A>C
  • NM_001407665.1:c.5398A>C
  • NM_001407666.1:c.5398A>C
  • NM_001407667.1:c.5398A>C
  • NM_001407668.1:c.5398A>C
  • NM_001407669.1:c.5398A>C
  • NM_001407670.1:c.5395A>C
  • NM_001407671.1:c.5395A>C
  • NM_001407672.1:c.5395A>C
  • NM_001407673.1:c.5395A>C
  • NM_001407674.1:c.5395A>C
  • NM_001407675.1:c.5395A>C
  • NM_001407676.1:c.5395A>C
  • NM_001407677.1:c.5395A>C
  • NM_001407678.1:c.5395A>C
  • NM_001407679.1:c.5395A>C
  • NM_001407680.1:c.5395A>C
  • NM_001407681.1:c.5392A>C
  • NM_001407682.1:c.5392A>C
  • NM_001407683.1:c.5392A>C
  • NM_001407684.1:c.5392A>C
  • NM_001407685.1:c.5392A>C
  • NM_001407686.1:c.5392A>C
  • NM_001407687.1:c.5392A>C
  • NM_001407688.1:c.5392A>C
  • NM_001407689.1:c.5392A>C
  • NM_001407690.1:c.5389A>C
  • NM_001407691.1:c.5389A>C
  • NM_001407692.1:c.5380A>C
  • NM_001407694.1:c.5380A>C
  • NM_001407695.1:c.5380A>C
  • NM_001407696.1:c.5380A>C
  • NM_001407697.1:c.5380A>C
  • NM_001407698.1:c.5380A>C
  • NM_001407724.1:c.5380A>C
  • NM_001407725.1:c.5380A>C
  • NM_001407726.1:c.5380A>C
  • NM_001407727.1:c.5380A>C
  • NM_001407728.1:c.5380A>C
  • NM_001407729.1:c.5380A>C
  • NM_001407730.1:c.5380A>C
  • NM_001407731.1:c.5380A>C
  • NM_001407732.1:c.5377A>C
  • NM_001407733.1:c.5377A>C
  • NM_001407734.1:c.5377A>C
  • NM_001407735.1:c.5377A>C
  • NM_001407736.1:c.5377A>C
  • NM_001407737.1:c.5377A>C
  • NM_001407738.1:c.5377A>C
  • NM_001407739.1:c.5377A>C
  • NM_001407740.1:c.5377A>C
  • NM_001407741.1:c.5377A>C
  • NM_001407742.1:c.5377A>C
  • NM_001407743.1:c.5377A>C
  • NM_001407744.1:c.5377A>C
  • NM_001407745.1:c.5377A>C
  • NM_001407746.1:c.5377A>C
  • NM_001407747.1:c.5377A>C
  • NM_001407748.1:c.5377A>C
  • NM_001407749.1:c.5377A>C
  • NM_001407750.1:c.5377A>C
  • NM_001407751.1:c.5377A>C
  • NM_001407752.1:c.5377A>C
  • NM_001407838.1:c.5374A>C
  • NM_001407839.1:c.5374A>C
  • NM_001407841.1:c.5374A>C
  • NM_001407842.1:c.5374A>C
  • NM_001407843.1:c.5374A>C
  • NM_001407844.1:c.5374A>C
  • NM_001407845.1:c.5374A>C
  • NM_001407846.1:c.5374A>C
  • NM_001407847.1:c.5374A>C
  • NM_001407848.1:c.5374A>C
  • NM_001407849.1:c.5374A>C
  • NM_001407850.1:c.5374A>C
  • NM_001407851.1:c.5374A>C
  • NM_001407852.1:c.5374A>C
  • NM_001407853.1:c.5374A>C
  • NM_001407854.1:c.*35A>C
  • NM_001407858.1:c.*35A>C
  • NM_001407859.1:c.*35A>C
  • NM_001407860.1:c.*35A>C
  • NM_001407861.1:c.*35A>C
  • NM_001407862.1:c.5320A>C
  • NM_001407863.1:c.5317A>C
  • NM_001407874.1:c.5314A>C
  • NM_001407875.1:c.5314A>C
  • NM_001407879.1:c.5311A>C
  • NM_001407881.1:c.5311A>C
  • NM_001407882.1:c.5311A>C
  • NM_001407884.1:c.5311A>C
  • NM_001407885.1:c.5311A>C
  • NM_001407886.1:c.5311A>C
  • NM_001407887.1:c.5311A>C
  • NM_001407889.1:c.5311A>C
  • NM_001407894.1:c.5308A>C
  • NM_001407895.1:c.5308A>C
  • NM_001407896.1:c.5308A>C
  • NM_001407897.1:c.5308A>C
  • NM_001407898.1:c.5308A>C
  • NM_001407899.1:c.5308A>C
  • NM_001407900.1:c.5308A>C
  • NM_001407902.1:c.5308A>C
  • NM_001407904.1:c.5308A>C
  • NM_001407906.1:c.5308A>C
  • NM_001407907.1:c.5308A>C
  • NM_001407908.1:c.5308A>C
  • NM_001407909.1:c.5308A>C
  • NM_001407910.1:c.5308A>C
  • NM_001407915.1:c.5305A>C
  • NM_001407916.1:c.5305A>C
  • NM_001407917.1:c.5305A>C
  • NM_001407918.1:c.5305A>C
  • NM_001407919.1:c.5269A>C
  • NM_001407920.1:c.5257A>C
  • NM_001407921.1:c.5257A>C
  • NM_001407922.1:c.5257A>C
  • NM_001407923.1:c.5257A>C
  • NM_001407924.1:c.5257A>C
  • NM_001407925.1:c.5257A>C
  • NM_001407926.1:c.5257A>C
  • NM_001407927.1:c.5254A>C
  • NM_001407928.1:c.5254A>C
  • NM_001407929.1:c.5254A>C
  • NM_001407930.1:c.5254A>C
  • NM_001407931.1:c.5254A>C
  • NM_001407932.1:c.5254A>C
  • NM_001407933.1:c.5254A>C
  • NM_001407934.1:c.5251A>C
  • NM_001407935.1:c.5251A>C
  • NM_001407936.1:c.5251A>C
  • NM_001407937.1:c.*35A>C
  • NM_001407938.1:c.*35A>C
  • NM_001407939.1:c.*35A>C
  • NM_001407940.1:c.*35A>C
  • NM_001407941.1:c.*35A>C
  • NM_001407942.1:c.*35A>C
  • NM_001407943.1:c.*35A>C
  • NM_001407944.1:c.*35A>C
  • NM_001407945.1:c.*35A>C
  • NM_001407946.1:c.5188A>C
  • NM_001407947.1:c.5188A>C
  • NM_001407948.1:c.5188A>C
  • NM_001407949.1:c.5188A>C
  • NM_001407950.1:c.5185A>C
  • NM_001407951.1:c.5185A>C
  • NM_001407952.1:c.5185A>C
  • NM_001407953.1:c.5185A>C
  • NM_001407954.1:c.5185A>C
  • NM_001407955.1:c.5185A>C
  • NM_001407956.1:c.5182A>C
  • NM_001407957.1:c.5182A>C
  • NM_001407958.1:c.5182A>C
  • NM_001407959.1:c.5140A>C
  • NM_001407960.1:c.5137A>C
  • NM_001407962.1:c.5137A>C
  • NM_001407963.1:c.5134A>C
  • NM_001407964.1:c.5059A>C
  • NM_001407965.1:c.5014A>C
  • NM_001407966.1:c.4633A>C
  • NM_001407967.1:c.4630A>C
  • NM_001407968.1:c.2917A>C
  • NM_001407969.1:c.2914A>C
  • NM_001407970.1:c.2278A>C
  • NM_001407971.1:c.2278A>C
  • NM_001407972.1:c.2275A>C
  • NM_001407973.1:c.2212A>C
  • NM_001407974.1:c.2212A>C
  • NM_001407975.1:c.2212A>C
  • NM_001407976.1:c.2212A>C
  • NM_001407977.1:c.2212A>C
  • NM_001407978.1:c.2212A>C
  • NM_001407979.1:c.2209A>C
  • NM_001407980.1:c.2209A>C
  • NM_001407981.1:c.2209A>C
  • NM_001407982.1:c.2209A>C
  • NM_001407983.1:c.2209A>C
  • NM_001407984.1:c.2209A>C
  • NM_001407985.1:c.2209A>C
  • NM_001407986.1:c.2209A>C
  • NM_001407990.1:c.2209A>C
  • NM_001407991.1:c.2209A>C
  • NM_001407992.1:c.2209A>C
  • NM_001407993.1:c.2209A>C
  • NM_001408392.1:c.2206A>C
  • NM_001408396.1:c.2206A>C
  • NM_001408397.1:c.2206A>C
  • NM_001408398.1:c.2206A>C
  • NM_001408399.1:c.2206A>C
  • NM_001408400.1:c.2206A>C
  • NM_001408401.1:c.2206A>C
  • NM_001408402.1:c.2206A>C
  • NM_001408403.1:c.2206A>C
  • NM_001408404.1:c.2206A>C
  • NM_001408406.1:c.2203A>C
  • NM_001408407.1:c.2203A>C
  • NM_001408408.1:c.2203A>C
  • NM_001408409.1:c.2200A>C
  • NM_001408410.1:c.2137A>C
  • NM_001408411.1:c.2134A>C
  • NM_001408412.1:c.2131A>C
  • NM_001408413.1:c.2131A>C
  • NM_001408414.1:c.2131A>C
  • NM_001408415.1:c.2131A>C
  • NM_001408416.1:c.2131A>C
  • NM_001408418.1:c.2095A>C
  • NM_001408419.1:c.2095A>C
  • NM_001408420.1:c.2095A>C
  • NM_001408421.1:c.2092A>C
  • NM_001408422.1:c.2092A>C
  • NM_001408423.1:c.2092A>C
  • NM_001408424.1:c.2092A>C
  • NM_001408425.1:c.2089A>C
  • NM_001408426.1:c.2089A>C
  • NM_001408427.1:c.2089A>C
  • NM_001408428.1:c.2089A>C
  • NM_001408429.1:c.2089A>C
  • NM_001408430.1:c.2089A>C
  • NM_001408431.1:c.2089A>C
  • NM_001408432.1:c.2086A>C
  • NM_001408433.1:c.2086A>C
  • NM_001408434.1:c.2086A>C
  • NM_001408435.1:c.2086A>C
  • NM_001408436.1:c.2086A>C
  • NM_001408437.1:c.2086A>C
  • NM_001408438.1:c.2086A>C
  • NM_001408439.1:c.2086A>C
  • NM_001408440.1:c.2086A>C
  • NM_001408441.1:c.2086A>C
  • NM_001408442.1:c.2086A>C
  • NM_001408443.1:c.2086A>C
  • NM_001408444.1:c.2086A>C
  • NM_001408445.1:c.2083A>C
  • NM_001408446.1:c.2083A>C
  • NM_001408447.1:c.2083A>C
  • NM_001408448.1:c.2083A>C
  • NM_001408450.1:c.2083A>C
  • NM_001408451.1:c.2077A>C
  • NM_001408452.1:c.2071A>C
  • NM_001408453.1:c.2071A>C
  • NM_001408454.1:c.2071A>C
  • NM_001408455.1:c.2071A>C
  • NM_001408456.1:c.2071A>C
  • NM_001408457.1:c.2071A>C
  • NM_001408458.1:c.2068A>C
  • NM_001408459.1:c.2068A>C
  • NM_001408460.1:c.2068A>C
  • NM_001408461.1:c.2068A>C
  • NM_001408462.1:c.2068A>C
  • NM_001408463.1:c.2068A>C
  • NM_001408464.1:c.2068A>C
  • NM_001408465.1:c.2068A>C
  • NM_001408466.1:c.2068A>C
  • NM_001408467.1:c.2068A>C
  • NM_001408468.1:c.2065A>C
  • NM_001408469.1:c.2065A>C
  • NM_001408470.1:c.2065A>C
  • NM_001408472.1:c.*35A>C
  • NM_001408473.1:c.*35A>C
  • NM_001408474.1:c.2011A>C
  • NM_001408475.1:c.2008A>C
  • NM_001408476.1:c.2008A>C
  • NM_001408478.1:c.2002A>C
  • NM_001408479.1:c.2002A>C
  • NM_001408480.1:c.2002A>C
  • NM_001408481.1:c.1999A>C
  • NM_001408482.1:c.1999A>C
  • NM_001408483.1:c.1999A>C
  • NM_001408484.1:c.1999A>C
  • NM_001408485.1:c.1999A>C
  • NM_001408489.1:c.1999A>C
  • NM_001408490.1:c.1999A>C
  • NM_001408491.1:c.1999A>C
  • NM_001408492.1:c.1996A>C
  • NM_001408493.1:c.1996A>C
  • NM_001408494.1:c.1972A>C
  • NM_001408495.1:c.1966A>C
  • NM_001408496.1:c.1948A>C
  • NM_001408497.1:c.1948A>C
  • NM_001408498.1:c.1948A>C
  • NM_001408499.1:c.1948A>C
  • NM_001408500.1:c.1948A>C
  • NM_001408501.1:c.1948A>C
  • NM_001408502.1:c.1945A>C
  • NM_001408503.1:c.1945A>C
  • NM_001408504.1:c.1945A>C
  • NM_001408505.1:c.1942A>C
  • NM_001408506.1:c.1885A>C
  • NM_001408507.1:c.1882A>C
  • NM_001408508.1:c.1873A>C
  • NM_001408509.1:c.1870A>C
  • NM_001408510.1:c.1831A>C
  • NM_001408511.1:c.1828A>C
  • NM_001408512.1:c.1708A>C
  • NM_001408513.1:c.1681A>C
  • NM_001408514.1:c.1285A>C
  • NM_007294.4:c.5521A>CMANE SELECT
  • NM_007297.4:c.5380A>C
  • NM_007298.4:c.2209A>C
  • NM_007299.4:c.*35A>C
  • NM_007300.4:c.5584A>C
  • NM_007304.2:c.2209A>C
  • NP_001394500.1:p.Ser1770Arg
  • NP_001394510.1:p.Ser1863Arg
  • NP_001394511.1:p.Ser1863Arg
  • NP_001394512.1:p.Ser1862Arg
  • NP_001394514.1:p.Ser1862Arg
  • NP_001394516.1:p.Ser1862Arg
  • NP_001394519.1:p.Ser1861Arg
  • NP_001394520.1:p.Ser1861Arg
  • NP_001394522.1:p.Ser1841Arg
  • NP_001394523.1:p.Ser1841Arg
  • NP_001394525.1:p.Ser1841Arg
  • NP_001394526.1:p.Ser1841Arg
  • NP_001394527.1:p.Ser1841Arg
  • NP_001394531.1:p.Ser1841Arg
  • NP_001394532.1:p.Ser1841Arg
  • NP_001394534.1:p.Ser1841Arg
  • NP_001394539.1:p.Ser1840Arg
  • NP_001394540.1:p.Ser1840Arg
  • NP_001394541.1:p.Ser1840Arg
  • NP_001394542.1:p.Ser1840Arg
  • NP_001394543.1:p.Ser1840Arg
  • NP_001394544.1:p.Ser1840Arg
  • NP_001394545.1:p.Ser1840Arg
  • NP_001394546.1:p.Ser1840Arg
  • NP_001394547.1:p.Ser1840Arg
  • NP_001394548.1:p.Ser1840Arg
  • NP_001394549.1:p.Ser1840Arg
  • NP_001394550.1:p.Ser1840Arg
  • NP_001394551.1:p.Ser1840Arg
  • NP_001394552.1:p.Ser1840Arg
  • NP_001394553.1:p.Ser1840Arg
  • NP_001394554.1:p.Ser1840Arg
  • NP_001394555.1:p.Ser1840Arg
  • NP_001394556.1:p.Ser1839Arg
  • NP_001394557.1:p.Ser1839Arg
  • NP_001394558.1:p.Ser1839Arg
  • NP_001394559.1:p.Ser1839Arg
  • NP_001394560.1:p.Ser1839Arg
  • NP_001394561.1:p.Ser1839Arg
  • NP_001394562.1:p.Ser1839Arg
  • NP_001394563.1:p.Ser1839Arg
  • NP_001394564.1:p.Ser1839Arg
  • NP_001394565.1:p.Ser1839Arg
  • NP_001394566.1:p.Ser1839Arg
  • NP_001394567.1:p.Ser1839Arg
  • NP_001394568.1:p.Ser1839Arg
  • NP_001394569.1:p.Ser1839Arg
  • NP_001394570.1:p.Ser1839Arg
  • NP_001394571.1:p.Ser1839Arg
  • NP_001394573.1:p.Ser1838Arg
  • NP_001394574.1:p.Ser1838Arg
  • NP_001394575.1:p.Ser1837Arg
  • NP_001394576.1:p.Ser1836Arg
  • NP_001394577.1:p.Ser1822Arg
  • NP_001394578.1:p.Ser1821Arg
  • NP_001394581.1:p.Ser1815Arg
  • NP_001394582.1:p.Ser1815Arg
  • NP_001394583.1:p.Ser1815Arg
  • NP_001394584.1:p.Ser1815Arg
  • NP_001394585.1:p.Ser1814Arg
  • NP_001394586.1:p.Ser1814Arg
  • NP_001394587.1:p.Ser1814Arg
  • NP_001394588.1:p.Ser1813Arg
  • NP_001394589.1:p.Ser1813Arg
  • NP_001394590.1:p.Ser1813Arg
  • NP_001394591.1:p.Ser1813Arg
  • NP_001394592.1:p.Ser1813Arg
  • NP_001394593.1:p.Ser1800Arg
  • NP_001394594.1:p.Ser1800Arg
  • NP_001394595.1:p.Ser1800Arg
  • NP_001394596.1:p.Ser1800Arg
  • NP_001394597.1:p.Ser1800Arg
  • NP_001394598.1:p.Ser1800Arg
  • NP_001394599.1:p.Ser1799Arg
  • NP_001394600.1:p.Ser1799Arg
  • NP_001394601.1:p.Ser1799Arg
  • NP_001394602.1:p.Ser1799Arg
  • NP_001394603.1:p.Ser1799Arg
  • NP_001394604.1:p.Ser1799Arg
  • NP_001394605.1:p.Ser1799Arg
  • NP_001394606.1:p.Ser1799Arg
  • NP_001394607.1:p.Ser1799Arg
  • NP_001394608.1:p.Ser1799Arg
  • NP_001394609.1:p.Ser1799Arg
  • NP_001394610.1:p.Ser1798Arg
  • NP_001394611.1:p.Ser1798Arg
  • NP_001394612.1:p.Ser1798Arg
  • NP_001394613.1:p.Ser1798Arg
  • NP_001394614.1:p.Ser1798Arg
  • NP_001394615.1:p.Ser1798Arg
  • NP_001394616.1:p.Ser1798Arg
  • NP_001394617.1:p.Ser1798Arg
  • NP_001394618.1:p.Ser1798Arg
  • NP_001394619.1:p.Ser1797Arg
  • NP_001394620.1:p.Ser1797Arg
  • NP_001394621.1:p.Ser1794Arg
  • NP_001394623.1:p.Ser1794Arg
  • NP_001394624.1:p.Ser1794Arg
  • NP_001394625.1:p.Ser1794Arg
  • NP_001394626.1:p.Ser1794Arg
  • NP_001394627.1:p.Ser1794Arg
  • NP_001394653.1:p.Ser1794Arg
  • NP_001394654.1:p.Ser1794Arg
  • NP_001394655.1:p.Ser1794Arg
  • NP_001394656.1:p.Ser1794Arg
  • NP_001394657.1:p.Ser1794Arg
  • NP_001394658.1:p.Ser1794Arg
  • NP_001394659.1:p.Ser1794Arg
  • NP_001394660.1:p.Ser1794Arg
  • NP_001394661.1:p.Ser1793Arg
  • NP_001394662.1:p.Ser1793Arg
  • NP_001394663.1:p.Ser1793Arg
  • NP_001394664.1:p.Ser1793Arg
  • NP_001394665.1:p.Ser1793Arg
  • NP_001394666.1:p.Ser1793Arg
  • NP_001394667.1:p.Ser1793Arg
  • NP_001394668.1:p.Ser1793Arg
  • NP_001394669.1:p.Ser1793Arg
  • NP_001394670.1:p.Ser1793Arg
  • NP_001394671.1:p.Ser1793Arg
  • NP_001394672.1:p.Ser1793Arg
  • NP_001394673.1:p.Ser1793Arg
  • NP_001394674.1:p.Ser1793Arg
  • NP_001394675.1:p.Ser1793Arg
  • NP_001394676.1:p.Ser1793Arg
  • NP_001394677.1:p.Ser1793Arg
  • NP_001394678.1:p.Ser1793Arg
  • NP_001394679.1:p.Ser1793Arg
  • NP_001394680.1:p.Ser1793Arg
  • NP_001394681.1:p.Ser1793Arg
  • NP_001394767.1:p.Ser1792Arg
  • NP_001394768.1:p.Ser1792Arg
  • NP_001394770.1:p.Ser1792Arg
  • NP_001394771.1:p.Ser1792Arg
  • NP_001394772.1:p.Ser1792Arg
  • NP_001394773.1:p.Ser1792Arg
  • NP_001394774.1:p.Ser1792Arg
  • NP_001394775.1:p.Ser1792Arg
  • NP_001394776.1:p.Ser1792Arg
  • NP_001394777.1:p.Ser1792Arg
  • NP_001394778.1:p.Ser1792Arg
  • NP_001394779.1:p.Ser1792Arg
  • NP_001394780.1:p.Ser1792Arg
  • NP_001394781.1:p.Ser1792Arg
  • NP_001394782.1:p.Ser1792Arg
  • NP_001394791.1:p.Ser1774Arg
  • NP_001394792.1:p.Ser1773Arg
  • NP_001394803.1:p.Ser1772Arg
  • NP_001394804.1:p.Ser1772Arg
  • NP_001394808.1:p.Ser1771Arg
  • NP_001394810.1:p.Ser1771Arg
  • NP_001394811.1:p.Ser1771Arg
  • NP_001394813.1:p.Ser1771Arg
  • NP_001394814.1:p.Ser1771Arg
  • NP_001394815.1:p.Ser1771Arg
  • NP_001394816.1:p.Ser1771Arg
  • NP_001394818.1:p.Ser1771Arg
  • NP_001394823.1:p.Ser1770Arg
  • NP_001394824.1:p.Ser1770Arg
  • NP_001394825.1:p.Ser1770Arg
  • NP_001394826.1:p.Ser1770Arg
  • NP_001394827.1:p.Ser1770Arg
  • NP_001394828.1:p.Ser1770Arg
  • NP_001394829.1:p.Ser1770Arg
  • NP_001394831.1:p.Ser1770Arg
  • NP_001394833.1:p.Ser1770Arg
  • NP_001394835.1:p.Ser1770Arg
  • NP_001394836.1:p.Ser1770Arg
  • NP_001394837.1:p.Ser1770Arg
  • NP_001394838.1:p.Ser1770Arg
  • NP_001394839.1:p.Ser1770Arg
  • NP_001394844.1:p.Ser1769Arg
  • NP_001394845.1:p.Ser1769Arg
  • NP_001394846.1:p.Ser1769Arg
  • NP_001394847.1:p.Ser1769Arg
  • NP_001394848.1:p.Ser1757Arg
  • NP_001394849.1:p.Ser1753Arg
  • NP_001394850.1:p.Ser1753Arg
  • NP_001394851.1:p.Ser1753Arg
  • NP_001394852.1:p.Ser1753Arg
  • NP_001394853.1:p.Ser1753Arg
  • NP_001394854.1:p.Ser1753Arg
  • NP_001394855.1:p.Ser1753Arg
  • NP_001394856.1:p.Ser1752Arg
  • NP_001394857.1:p.Ser1752Arg
  • NP_001394858.1:p.Ser1752Arg
  • NP_001394859.1:p.Ser1752Arg
  • NP_001394860.1:p.Ser1752Arg
  • NP_001394861.1:p.Ser1752Arg
  • NP_001394862.1:p.Ser1752Arg
  • NP_001394863.1:p.Ser1751Arg
  • NP_001394864.1:p.Ser1751Arg
  • NP_001394865.1:p.Ser1751Arg
  • NP_001394875.1:p.Ser1730Arg
  • NP_001394876.1:p.Ser1730Arg
  • NP_001394877.1:p.Ser1730Arg
  • NP_001394878.1:p.Ser1730Arg
  • NP_001394879.1:p.Ser1729Arg
  • NP_001394880.1:p.Ser1729Arg
  • NP_001394881.1:p.Ser1729Arg
  • NP_001394882.1:p.Ser1729Arg
  • NP_001394883.1:p.Ser1729Arg
  • NP_001394884.1:p.Ser1729Arg
  • NP_001394885.1:p.Ser1728Arg
  • NP_001394886.1:p.Ser1728Arg
  • NP_001394887.1:p.Ser1728Arg
  • NP_001394888.1:p.Ser1714Arg
  • NP_001394889.1:p.Ser1713Arg
  • NP_001394891.1:p.Ser1713Arg
  • NP_001394892.1:p.Ser1712Arg
  • NP_001394893.1:p.Ser1687Arg
  • NP_001394894.1:p.Ser1672Arg
  • NP_001394895.1:p.Ser1545Arg
  • NP_001394896.1:p.Ser1544Arg
  • NP_001394897.1:p.Ser973Arg
  • NP_001394898.1:p.Ser972Arg
  • NP_001394899.1:p.Ser760Arg
  • NP_001394900.1:p.Ser760Arg
  • NP_001394901.1:p.Ser759Arg
  • NP_001394902.1:p.Ser738Arg
  • NP_001394903.1:p.Ser738Arg
  • NP_001394904.1:p.Ser738Arg
  • NP_001394905.1:p.Ser738Arg
  • NP_001394906.1:p.Ser738Arg
  • NP_001394907.1:p.Ser738Arg
  • NP_001394908.1:p.Ser737Arg
  • NP_001394909.1:p.Ser737Arg
  • NP_001394910.1:p.Ser737Arg
  • NP_001394911.1:p.Ser737Arg
  • NP_001394912.1:p.Ser737Arg
  • NP_001394913.1:p.Ser737Arg
  • NP_001394914.1:p.Ser737Arg
  • NP_001394915.1:p.Ser737Arg
  • NP_001394919.1:p.Ser737Arg
  • NP_001394920.1:p.Ser737Arg
  • NP_001394921.1:p.Ser737Arg
  • NP_001394922.1:p.Ser737Arg
  • NP_001395321.1:p.Ser736Arg
  • NP_001395325.1:p.Ser736Arg
  • NP_001395326.1:p.Ser736Arg
  • NP_001395327.1:p.Ser736Arg
  • NP_001395328.1:p.Ser736Arg
  • NP_001395329.1:p.Ser736Arg
  • NP_001395330.1:p.Ser736Arg
  • NP_001395331.1:p.Ser736Arg
  • NP_001395332.1:p.Ser736Arg
  • NP_001395333.1:p.Ser736Arg
  • NP_001395335.1:p.Ser735Arg
  • NP_001395336.1:p.Ser735Arg
  • NP_001395337.1:p.Ser735Arg
  • NP_001395338.1:p.Ser734Arg
  • NP_001395339.1:p.Ser713Arg
  • NP_001395340.1:p.Ser712Arg
  • NP_001395341.1:p.Ser711Arg
  • NP_001395342.1:p.Ser711Arg
  • NP_001395343.1:p.Ser711Arg
  • NP_001395344.1:p.Ser711Arg
  • NP_001395345.1:p.Ser711Arg
  • NP_001395347.1:p.Ser699Arg
  • NP_001395348.1:p.Ser699Arg
  • NP_001395349.1:p.Ser699Arg
  • NP_001395350.1:p.Ser698Arg
  • NP_001395351.1:p.Ser698Arg
  • NP_001395352.1:p.Ser698Arg
  • NP_001395353.1:p.Ser698Arg
  • NP_001395354.1:p.Ser697Arg
  • NP_001395355.1:p.Ser697Arg
  • NP_001395356.1:p.Ser697Arg
  • NP_001395357.1:p.Ser697Arg
  • NP_001395358.1:p.Ser697Arg
  • NP_001395359.1:p.Ser697Arg
  • NP_001395360.1:p.Ser697Arg
  • NP_001395361.1:p.Ser696Arg
  • NP_001395362.1:p.Ser696Arg
  • NP_001395363.1:p.Ser696Arg
  • NP_001395364.1:p.Ser696Arg
  • NP_001395365.1:p.Ser696Arg
  • NP_001395366.1:p.Ser696Arg
  • NP_001395367.1:p.Ser696Arg
  • NP_001395368.1:p.Ser696Arg
  • NP_001395369.1:p.Ser696Arg
  • NP_001395370.1:p.Ser696Arg
  • NP_001395371.1:p.Ser696Arg
  • NP_001395372.1:p.Ser696Arg
  • NP_001395373.1:p.Ser696Arg
  • NP_001395374.1:p.Ser695Arg
  • NP_001395375.1:p.Ser695Arg
  • NP_001395376.1:p.Ser695Arg
  • NP_001395377.1:p.Ser695Arg
  • NP_001395379.1:p.Ser695Arg
  • NP_001395380.1:p.Ser693Arg
  • NP_001395381.1:p.Ser691Arg
  • NP_001395382.1:p.Ser691Arg
  • NP_001395383.1:p.Ser691Arg
  • NP_001395384.1:p.Ser691Arg
  • NP_001395385.1:p.Ser691Arg
  • NP_001395386.1:p.Ser691Arg
  • NP_001395387.1:p.Ser690Arg
  • NP_001395388.1:p.Ser690Arg
  • NP_001395389.1:p.Ser690Arg
  • NP_001395390.1:p.Ser690Arg
  • NP_001395391.1:p.Ser690Arg
  • NP_001395392.1:p.Ser690Arg
  • NP_001395393.1:p.Ser690Arg
  • NP_001395394.1:p.Ser690Arg
  • NP_001395395.1:p.Ser690Arg
  • NP_001395396.1:p.Ser690Arg
  • NP_001395397.1:p.Ser689Arg
  • NP_001395398.1:p.Ser689Arg
  • NP_001395399.1:p.Ser689Arg
  • NP_001395403.1:p.Ser671Arg
  • NP_001395404.1:p.Ser670Arg
  • NP_001395405.1:p.Ser670Arg
  • NP_001395407.1:p.Ser668Arg
  • NP_001395408.1:p.Ser668Arg
  • NP_001395409.1:p.Ser668Arg
  • NP_001395410.1:p.Ser667Arg
  • NP_001395411.1:p.Ser667Arg
  • NP_001395412.1:p.Ser667Arg
  • NP_001395413.1:p.Ser667Arg
  • NP_001395414.1:p.Ser667Arg
  • NP_001395418.1:p.Ser667Arg
  • NP_001395419.1:p.Ser667Arg
  • NP_001395420.1:p.Ser667Arg
  • NP_001395421.1:p.Ser666Arg
  • NP_001395422.1:p.Ser666Arg
  • NP_001395423.1:p.Ser658Arg
  • NP_001395424.1:p.Ser656Arg
  • NP_001395425.1:p.Ser650Arg
  • NP_001395426.1:p.Ser650Arg
  • NP_001395427.1:p.Ser650Arg
  • NP_001395428.1:p.Ser650Arg
  • NP_001395429.1:p.Ser650Arg
  • NP_001395430.1:p.Ser650Arg
  • NP_001395431.1:p.Ser649Arg
  • NP_001395432.1:p.Ser649Arg
  • NP_001395433.1:p.Ser649Arg
  • NP_001395434.1:p.Ser648Arg
  • NP_001395435.1:p.Ser629Arg
  • NP_001395436.1:p.Ser628Arg
  • NP_001395437.1:p.Ser625Arg
  • NP_001395438.1:p.Ser624Arg
  • NP_001395439.1:p.Ser611Arg
  • NP_001395440.1:p.Ser610Arg
  • NP_001395441.1:p.Ser570Arg
  • NP_001395442.1:p.Ser561Arg
  • NP_001395443.1:p.Ser429Arg
  • NP_009225.1:p.Ser1841Arg
  • NP_009225.1:p.Ser1841Arg
  • NP_009228.2:p.Ser1794Arg
  • NP_009229.2:p.Ser737Arg
  • NP_009229.2:p.Ser737Arg
  • NP_009231.2:p.Ser1862Arg
  • NP_009235.2:p.Ser737Arg
  • LRG_292t1:c.5521A>C
  • LRG_292:g.172235A>C
  • LRG_292p1:p.Ser1841Arg
  • NC_000017.10:g.41197766T>G
  • NM_007294.3:c.5521A>C
  • NM_007298.3:c.2209A>C
  • NR_027676.2:n.5698A>C
  • U14680.1:n.5640A>C
Nucleotide change:
5640A>C
Protein change:
S1544R
Links:
dbSNP: rs80357299
NCBI 1000 Genomes Browser:
rs80357299
Molecular consequence:
  • NM_007299.4:c.*35A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001407571.1:c.5308A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407581.1:c.5587A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407582.1:c.5587A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407583.1:c.5584A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407585.1:c.5584A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407587.1:c.5584A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407590.1:c.5581A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407591.1:c.5581A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407593.1:c.5521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407594.1:c.5521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407596.1:c.5521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407597.1:c.5521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407598.1:c.5521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407602.1:c.5521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407603.1:c.5521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407605.1:c.5521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407610.1:c.5518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407611.1:c.5518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407612.1:c.5518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407613.1:c.5518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407614.1:c.5518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407615.1:c.5518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407616.1:c.5518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407617.1:c.5518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407618.1:c.5518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407619.1:c.5518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407620.1:c.5518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407621.1:c.5518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407622.1:c.5518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407623.1:c.5518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407624.1:c.5518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407625.1:c.5518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407626.1:c.5518A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407627.1:c.5515A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407628.1:c.5515A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407629.1:c.5515A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407630.1:c.5515A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407631.1:c.5515A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407632.1:c.5515A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407633.1:c.5515A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407634.1:c.5515A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407635.1:c.5515A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407636.1:c.5515A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407637.1:c.5515A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407638.1:c.5515A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407639.1:c.5515A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407640.1:c.5515A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407641.1:c.5515A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407642.1:c.5515A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407644.1:c.5512A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407645.1:c.5512A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407646.1:c.5509A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407647.1:c.5506A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407648.1:c.5464A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407649.1:c.5461A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407652.1:c.5443A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407653.1:c.5443A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407654.1:c.5443A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407655.1:c.5443A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407656.1:c.5440A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407657.1:c.5440A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407658.1:c.5440A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407659.1:c.5437A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407660.1:c.5437A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407661.1:c.5437A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407662.1:c.5437A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407663.1:c.5437A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407664.1:c.5398A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407665.1:c.5398A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407666.1:c.5398A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407667.1:c.5398A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407668.1:c.5398A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407669.1:c.5398A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407670.1:c.5395A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407671.1:c.5395A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407672.1:c.5395A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407673.1:c.5395A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407674.1:c.5395A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407675.1:c.5395A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407676.1:c.5395A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407677.1:c.5395A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407678.1:c.5395A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407679.1:c.5395A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407680.1:c.5395A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407681.1:c.5392A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407682.1:c.5392A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407683.1:c.5392A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407684.1:c.5392A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407685.1:c.5392A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407686.1:c.5392A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407687.1:c.5392A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407688.1:c.5392A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407689.1:c.5392A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407690.1:c.5389A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407691.1:c.5389A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407692.1:c.5380A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407694.1:c.5380A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407695.1:c.5380A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407696.1:c.5380A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407697.1:c.5380A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407698.1:c.5380A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407724.1:c.5380A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407725.1:c.5380A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407726.1:c.5380A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407727.1:c.5380A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407728.1:c.5380A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407729.1:c.5380A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407730.1:c.5380A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407731.1:c.5380A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407732.1:c.5377A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407733.1:c.5377A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407734.1:c.5377A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407735.1:c.5377A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407736.1:c.5377A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407737.1:c.5377A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407738.1:c.5377A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407739.1:c.5377A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407740.1:c.5377A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407741.1:c.5377A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407742.1:c.5377A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407743.1:c.5377A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407744.1:c.5377A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407745.1:c.5377A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407746.1:c.5377A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407747.1:c.5377A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407748.1:c.5377A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407749.1:c.5377A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407750.1:c.5377A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407751.1:c.5377A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407752.1:c.5377A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407838.1:c.5374A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407839.1:c.5374A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407841.1:c.5374A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407842.1:c.5374A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407843.1:c.5374A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407844.1:c.5374A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407845.1:c.5374A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407846.1:c.5374A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407847.1:c.5374A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407848.1:c.5374A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407849.1:c.5374A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407850.1:c.5374A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407851.1:c.5374A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407852.1:c.5374A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407853.1:c.5374A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407862.1:c.5320A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407863.1:c.5317A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407874.1:c.5314A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407875.1:c.5314A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407879.1:c.5311A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407881.1:c.5311A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407882.1:c.5311A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407884.1:c.5311A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407885.1:c.5311A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407886.1:c.5311A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407887.1:c.5311A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407889.1:c.5311A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407894.1:c.5308A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407895.1:c.5308A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407896.1:c.5308A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407897.1:c.5308A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407898.1:c.5308A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407899.1:c.5308A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407900.1:c.5308A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407902.1:c.5308A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407904.1:c.5308A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407906.1:c.5308A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407907.1:c.5308A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407908.1:c.5308A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407909.1:c.5308A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407910.1:c.5308A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407915.1:c.5305A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407916.1:c.5305A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407917.1:c.5305A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407918.1:c.5305A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407919.1:c.5269A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407920.1:c.5257A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407921.1:c.5257A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407922.1:c.5257A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407923.1:c.5257A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407924.1:c.5257A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407925.1:c.5257A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407926.1:c.5257A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407927.1:c.5254A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407928.1:c.5254A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407929.1:c.5254A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407930.1:c.5254A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407931.1:c.5254A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407932.1:c.5254A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407933.1:c.5254A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407934.1:c.5251A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407935.1:c.5251A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407936.1:c.5251A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407946.1:c.5188A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407947.1:c.5188A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407948.1:c.5188A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407949.1:c.5188A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407950.1:c.5185A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407951.1:c.5185A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407952.1:c.5185A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407953.1:c.5185A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407954.1:c.5185A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407955.1:c.5185A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407956.1:c.5182A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407957.1:c.5182A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407958.1:c.5182A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407959.1:c.5140A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407960.1:c.5137A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407962.1:c.5137A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407963.1:c.5134A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407964.1:c.5059A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407965.1:c.5014A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407966.1:c.4633A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407967.1:c.4630A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407968.1:c.2917A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407969.1:c.2914A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407970.1:c.2278A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407971.1:c.2278A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407972.1:c.2275A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407973.1:c.2212A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407974.1:c.2212A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407975.1:c.2212A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407976.1:c.2212A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407977.1:c.2212A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407978.1:c.2212A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407979.1:c.2209A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407980.1:c.2209A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407981.1:c.2209A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407982.1:c.2209A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407983.1:c.2209A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407984.1:c.2209A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407985.1:c.2209A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407986.1:c.2209A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407990.1:c.2209A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407991.1:c.2209A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407992.1:c.2209A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001407993.1:c.2209A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408392.1:c.2206A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408396.1:c.2206A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408397.1:c.2206A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408398.1:c.2206A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408399.1:c.2206A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408400.1:c.2206A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408401.1:c.2206A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408402.1:c.2206A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408403.1:c.2206A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408404.1:c.2206A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408406.1:c.2203A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408407.1:c.2203A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408408.1:c.2203A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408409.1:c.2200A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408410.1:c.2137A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408411.1:c.2134A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408412.1:c.2131A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408413.1:c.2131A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408414.1:c.2131A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408415.1:c.2131A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408416.1:c.2131A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408418.1:c.2095A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408419.1:c.2095A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408420.1:c.2095A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408421.1:c.2092A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408422.1:c.2092A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408423.1:c.2092A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408424.1:c.2092A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408425.1:c.2089A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408426.1:c.2089A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408427.1:c.2089A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408428.1:c.2089A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408429.1:c.2089A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408430.1:c.2089A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408431.1:c.2089A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408432.1:c.2086A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408433.1:c.2086A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408434.1:c.2086A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408435.1:c.2086A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408436.1:c.2086A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408437.1:c.2086A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408438.1:c.2086A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408439.1:c.2086A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408440.1:c.2086A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408441.1:c.2086A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408442.1:c.2086A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408443.1:c.2086A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408444.1:c.2086A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408445.1:c.2083A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408446.1:c.2083A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408447.1:c.2083A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408448.1:c.2083A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408450.1:c.2083A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408451.1:c.2077A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408452.1:c.2071A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408453.1:c.2071A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408454.1:c.2071A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408455.1:c.2071A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408456.1:c.2071A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408457.1:c.2071A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408458.1:c.2068A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408459.1:c.2068A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408460.1:c.2068A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408461.1:c.2068A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408462.1:c.2068A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408463.1:c.2068A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408464.1:c.2068A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408465.1:c.2068A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408466.1:c.2068A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408467.1:c.2068A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408468.1:c.2065A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408469.1:c.2065A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408470.1:c.2065A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408474.1:c.2011A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408475.1:c.2008A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408476.1:c.2008A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408478.1:c.2002A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408479.1:c.2002A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408480.1:c.2002A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408481.1:c.1999A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408482.1:c.1999A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408483.1:c.1999A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408484.1:c.1999A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408485.1:c.1999A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408489.1:c.1999A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408490.1:c.1999A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408491.1:c.1999A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408492.1:c.1996A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408493.1:c.1996A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408494.1:c.1972A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408495.1:c.1966A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408496.1:c.1948A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408497.1:c.1948A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408498.1:c.1948A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408499.1:c.1948A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408500.1:c.1948A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408501.1:c.1948A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408502.1:c.1945A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408503.1:c.1945A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408504.1:c.1945A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408505.1:c.1942A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408506.1:c.1885A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408507.1:c.1882A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408508.1:c.1873A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408509.1:c.1870A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408510.1:c.1831A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408511.1:c.1828A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408512.1:c.1708A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408513.1:c.1681A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001408514.1:c.1285A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007294.4:c.5521A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.5380A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007298.4:c.2209A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.5584A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007304.2:c.2209A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.5698A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000591638Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Likely pathogenicunknownclinical testing

SCV005199693Clinical Genetics Laboratory, Skane University Hospital Lund
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Apr 14, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV000591638.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The BRCA1 p.Ser1841Arg variant was identified in the literature however the frequency of this variant in an affected population was not provided. The variant was identified in dbSNP (rs80357299) as “with likely pathogenic allele”, ClinVar (classified as uncertain significance by BIC, SCRP and Women's College Hospital and likely pathogenic by Lady Davis Institute for Medical Research) and LOVD 3.0 (observed 1x). The variant was not identified in UMD-LSDB. The variant was not identified in the following control databases: the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). In vitro expression of the variant had a demonstrable effect on BRCA1 protein folding, binding and transactivational activity (Lee 2010). Additionally, the variant co-segregated with disease in a family; it was identified in a patient with ovarian cancer, and segregated in 3 family members, including one prostate cancer and two breast cancer cases (Zhang 2013). The p.Ser1841 residue is conserved across mammals and other organisms, and four out of five computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) suggest that the variant may impact the protein; however, this information is not predictive enough to assume pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more pathogenic role for this variant. This variant is classified as likely pathogenic.

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

From Clinical Genetics Laboratory, Skane University Hospital Lund, SCV005199693.1

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

Last Updated: Feb 25, 2025