rs61736590
- Benign/Likely benign
Your Genotype
Sign InDescription
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Identified in a patient in published literature with lupus (Gunther et al., 2015); In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 25500883)
Reference Allele
C
Alternative Allele
A
G
T
Chromosome
11
Location
65720045
Variant Type
SNP
Phenotypes
ClinVar
Name
NM_032193.4(RNASEH2C):c.468G>T (p.Ala156=)
Allele
A
Clinical Significance
Benign/Likely benign