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rs61742739

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 2 carrier of a possible allele for renal glycosuria
(G;G) 2.8 renal glycosuria possible, but see discussion
ReferenceGRCh38 38.1/141
Chromosome16
Position31490477
GeneC16orf58, SLC5A2
is asnp
is mentioned by
dbSNPrs61742739
ebirs61742739
HLIrs61742739
Exacrs61742739
Varsomers61742739
Maprs61742739
PheGenIrs61742739
hapmaprs61742739
1000 genomesrs61742739
hgdprs61742739
ensemblrs61742739
gopubmedrs61742739
geneviewrs61742739
scholarrs61742739
googlers61742739
pharmgkbrs61742739
gwascentralrs61742739
openSNPrs61742739
23andMers61742739
23andMe allrs61742739
SNP Nexus

SNPshotrs61742739
SNPdbers61742739
MSV3drs61742739
GWAS Ctlgrs61742739
GMAF0.003673
Max Magnitude2.8

rs61742739, also known as c.1961A>G, p.Asn654Ser and N654S, represents a rare variant in the SLC5A2 gene on chromosome 16.

Mutations in the SLC5A2 gene are reported to cause a familial form of renal glycosuria, with both dominant and recessive forms of inheritance reported. The rs61742739(G) allele was reported along with another SLC5A2 mutation in a patient with glycosuria, implying it is recessive, which was also consistent in that the patient's parents, one of whom was heterozygous for rs61742739(G), were not reported as having glycosuria.[PMID 14614622]

However, GET-Evidence states that some authors believe this variant is nonpathogenic. The literature cited is consistent with this variant being either benign or recessive (and possibly of variable penetrance).

OMIM182381
Desc
Variant0002
Relatedalso


ClinVar
Risk rs61742739(G;G)
Alt rs61742739(G;G)
Reference rs61742739(A;A)
Significance Pathogenic
Disease Familial renal glucosuria
Variation info
Gene SLC5A2 C16orf58
CLNDBN Familial renal glucosuria
Reversed 0
HGVS NC_000016.9:g.31501798A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013768.25,



GET Evidence
SLC5A2-N654S
aa_change Asn654Ser
aa_change_short N654S
impact pathogenic
qualified_impact Low clinical importance, Uncertain pathogenic
overall_frequency 0.00706451
summary Some authors report this rare variant as a nonpathogenic polymorphism, others suggest it may cause renal glucosuria in a recessive manner when compound heterozygous with other pathogenic variants.