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rs145268073

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 3 Possible cryopyrin-associated syndrome mutation
(G;G) 0 common in clinvar


Make rs145268073(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position247424912
GeneNLRP3
is asnp
is mentioned by
dbSNPrs145268073
dbSNP (old)rs145268073
ClinGenrs145268073
ebirs145268073
HLIrs145268073
Exacrs145268073
Gnomadrs145268073
Varsomers145268073
Maprs145268073
PheGenIrs145268073
Biobankrs145268073
1000 genomesrs145268073
hgdprs145268073
ensemblrs145268073
gopubmedrs145268073
geneviewrs145268073
scholarrs145268073
googlers145268073
pharmgkbrs145268073
gwascentralrs145268073
openSNPrs145268073
23andMers145268073
23andMe allrs145268073
SNP Nexus

SNPshotrs145268073
SNPdbers145268073
MSV3drs145268073
GWAS Ctlgrs145268073
Max Magnitude3

rs145268073, also known as c.1463G>A, p.Arg488Lys, R488K and even R490K, is a rare variant in the NLRP3 gene on chromosome 1.

The clinical impact of this variant is unclear. It was originally reported (in 2004) as being associated with cryopyrin-associated disorders, a group of rare, dominantly inherited, autoinflammatory diseases.[1]

At that time, it was noted that some carriers of the variant were apparently unaffected though, leading to the conclusion that this may be a mutation with quite varying penetrance. In ClinVar, this mutation is tagged by different submitters as either likely to be pathogenic or likely to be benign, however, one submitter also notes that "the R490K variant has been observed in multiple patients ... with clinical phenotypes, including two patients with hearing loss, consistent with NLRP3-related periodic fevers syndromes".

Overall, the jury is clearly out on whether this variant is clinically meaningful or not.


ClinVar
Risk rs145268073(A;A) rs145268073(C;C)
Alt rs145268073(A;A) rs145268073(C;C)
Reference Rs145268073(G;G)
Significance Probable-Pathogenic
Disease Familial cold urticaria not provided Familial cold autoinflammatory syndrome
Variation info
Gene NLRP3
CLNDBN Familial cold urticaria not provided Familial cold autoinflammatory syndrome
Reversed 0
HGVS NC_000001.10:g.247588214G>A
CLNSRC
CLNACC RCV000084193.1, RCV000223458.2, RCV000360373.1,