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rs1799958

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 1.5 Considered to be a 'susceptibility' variant by some for SCAD; see text
(G;G) 0 common in clinvar


Make rs1799958(A;A)
ReferenceGRCh38 38.1/141
Chromosome12
Position120738280
GeneACADS
is asnp
is mentioned by
dbSNPrs1799958
dbSNP (classic)rs1799958
ClinGenrs1799958
ebirs1799958
HLIrs1799958
Exacrs1799958
Gnomadrs1799958
Varsomers1799958
LitVarrs1799958
Maprs1799958
PheGenIrs1799958
Biobankrs1799958
1000 genomesrs1799958
hgdprs1799958
ensemblrs1799958
geneviewrs1799958
scholarrs1799958
googlers1799958
pharmgkbrs1799958
gwascentralrs1799958
openSNPrs1799958
23andMers1799958
23andMe allrs1799958
SNPshotrs1799958
SNPdbers1799958
MSV3drs1799958
GWAS Ctlgrs1799958
GMAF0.1763
Max Magnitude1.5

aka c.625G>A (p.Gly209Ser or G209S)

In brief: ethylmalonic aciduria and SCAD deficiency have been reported to be due to this variant (especially when found in compound heterozygotes), but it's a very common variant and there are 100 year olds who show no signs of the disorder, so it's likely that this variant is necessary but not sufficient to bring about a disease condition ... and the other pre-disposing factors are unclear.

In more detail: This variant was initially reported in 2011 in a few patients with ethylmalonic aciduria and SCAD deficiency, and it was termed a 'susceptibility variant'.[PMID 11134486] Compound heterozygosity for R107C and G209S were described in 2008 as disease causing in Ashkenazi Jewish patients with SCAD, albeit with reduced penetrance depending on additional (unknown) factors.[PMID 18054510] Clearly, though, the frequency of the G209S variant is much higher in the general population than would be expected for a pathogenic mutation; the rs1799958(A) allele frequency is around 20-25% in many Caucasian populations. Furthermore, in a study of Ashkenazi centenarians, 5 of 44 such individuals studied were homozygous for G209S (MAF = 36.4%) and they didn't carry any other missense variants in the ACADS gene, so carrying this variant doesn't lead to reduced longevity in any obvious way.[PMID 25333069OA-icon.png]

OMIM606885
Desc
Variant0007
Relatedalso


ClinVar
Risk rs1799958(A;A)
Alt rs1799958(A;A)
Reference Rs1799958(G;G)
Significance Other
Disease Deficiency of butyryl-CoA dehydrogenase not specified not provided
Variation info
Gene ACADS
CLNDBN Deficiency of butyryl-CoA dehydrogenase not specified not provided
Reversed 0
HGVS NC_000012.11:g.121176083G>A
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004035.5, RCV000077896.4, RCV000185685.2,



[PMID 19470168OA-icon.png] NPAS2 and PER2 are linked to risk factors of the metabolic syndrome.


[PMID 20180986OA-icon.png] CLOCK is suggested to associate with comorbid alcohol use and depressive disorders.