GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
RNASEH2B C7Yinsufficiently evaluated not reviewedunknown hu232307 build 36 substitution variants
RNASEH2B V20Linsufficiently evaluated not reviewedunknown CGI sample GS000006909
RNASEH2B A177Tinsufficiently evaluated pathogenic, f=0.002unknown

(9 web hits)

RNASEH2B V185Ginsufficiently evaluated pathogenicunknown

(5 web hits)

RNASEH2B N305Kinsufficiently evaluated not reviewedunknown
RNASEH2B I309Shiftuncertain benign, f=0.023undefined

This variant is predicted to be highly disruptive. Although other disruptive variants in this gene are reported to cause Aicardi-Goutieres syndrome in a recessive manner (a rare, fatal childhood disease), those variants were upstream of this position, and this variant is too common to be consistent with causing that disease (2% allele frequency). Based on this, it is tentatively evaluated as benign.

CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS00253-DNA_F01_200_37
Total results: 6

Gene search

"GENE" or "GENE A123C":

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