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rs71530923

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs71530923(C;T)
Make rs71530923(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position6277579
GeneWFS1
is asnp
is mentioned by
dbSNPrs71530923
ClinGenrs71530923
ebirs71530923
HLIrs71530923
Exacrs71530923
Varsomers71530923
Maprs71530923
PheGenIrs71530923
hapmaprs71530923
1000 genomesrs71530923
hgdprs71530923
ensemblrs71530923
gopubmedrs71530923
geneviewrs71530923
scholarrs71530923
googlers71530923
pharmgkbrs71530923
gwascentralrs71530923
openSNPrs71530923
23andMers71530923
23andMe allrs71530923
SNP Nexus

SNPshotrs71530923
SNPdbers71530923
MSV3drs71530923
GWAS Ctlgrs71530923
Max Magnitude0

rs71530923, also known as c.124C>T, p.Arg42Ter, R42* and R42X, represents a rare variant in the WFS1 gene on chromosome 4.

A lab report in ClinVar indicates the minor allele is an autosomal recessive causative for Wolfram syndrome, and that when heterozygous, is pathogenic for a form of diabetes mellitus that includes increased risk for deafness. The summary evidence provided in ClinVar states the following:

The Arg42X variant in WFS1 has not been previously identified in individuals with Wolfram syndrome, but has been identified in 0.02% (1/8540) of European American chromosomes by the NHLBI Exome Sequencing Project ([1]; dbSNP rs71530923). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a pathogenic interpretation. This nonsense variant leads to a premature termination codon at position 42, which is predicted to lead to a truncated or absent protein. Heterozygous carries of pathogenic WFS1 variants may be at risk for developing low frequency sensorineural hearing loss and/or diabetes mellitus (Ohata 1998, Sandhu 2007, Franks 2008). In summary, this variant meets our criteria to be classified as pathogenic ([2]).


ClinVar
Risk rs71530923(T;T)
Alt rs71530923(T;T)
Reference Rs71530923(C;C)
Significance Pathogenic
Disease Diabetes mellitus AND insipidus with optic atrophy AND deafness
Variation info
Gene WFS1
CLNDBN Diabetes mellitus AND insipidus with optic atrophy AND deafness
Reversed 0
HGVS NC_000004.11:g.6279306C>T
CLNSRC
CLNACC RCV000169684.1,