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rs61735045

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1.1 likely to be a benign variant
(A;G) 1 likely to be a benign variant
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome9
Position134750808
GeneCOL5A1
is asnp
is mentioned by
dbSNPrs61735045
ebirs61735045
HLIrs61735045
Exacrs61735045
Varsomers61735045
Maprs61735045
PheGenIrs61735045
hapmaprs61735045
1000 genomesrs61735045
hgdprs61735045
ensemblrs61735045
gopubmedrs61735045
geneviewrs61735045
scholarrs61735045
googlers61735045
pharmgkbrs61735045
gwascentralrs61735045
openSNPrs61735045
23andMers61735045
23andMe allrs61735045
SNP Nexus

SNPshotrs61735045
SNPdbers61735045
MSV3drs61735045
GWAS Ctlgrs61735045
GMAF0.02525
Max Magnitude1.1

rs61735045, also known as c.1588G>A, p.Gly530Ser and G530S, is a variant in the COL5A1 gene on chromosome 9.

Two papers published in 2000 and 2002 proposed that carrying one copy of an rs61735045(A) allele worsened symptoms of Ehlers-Danlos syndrome(EDS) in those who had it due to a causative mutation elsewhere, and that carrying two copies would cause EDS.[PMID 10602121] [PMID 11992482]

More recent analyses have concluded that the rs61735045(A) allele is quite likely to actually be benign. A 2009 publication found that the frequency of the 530S allele was similar (about 5%) in all groups of people they studied, whether healthy or EDS-affected. Furthermore, the predicted homozygote minor frequency of 1 in 400 people is much higher than that of classical EDS.[PMID 19370768OA-icon.png] More recently, ExAC analysis shows an allele frequency of 3.5%, and a minor homozygote frequency of about 1 in 1000, which is still an order of magnitude or more higher than the estimated EDS incidence, incidating that either this allele is benign or the penetrance of even a double mutation is quite low.

Additionally, as of 2014, two labs are reporting in ClinVar this variant as benign.

In summary, the majority of current evidence indicates that the rs61735045 variant is likely to be benign.

ClinVar
Risk rs61735045(A;A)
Alt rs61735045(A;A)
Reference rs61735045(G;G)
Significance Pathogenic
Disease Ehlers-Danlos syndrome not specified
Variation info
Gene COL5A1
CLNDBN Ehlers-Danlos syndrome, classic type not specified
Reversed 0
HGVS NC_000009.11:g.137642654G>A
CLNSRC ClinVar GeneDx GeneReviews
CLNACC RCV000032106.1, RCV000174444.3,



[PMID 10602121] Compound heterozygosity for a disease-causing G1489E [correction of G1489D] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?


[PMID 11992482] Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome.