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rs486907

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 2 2x increased prostate cancer risk
(A;G) 1.5 1.5x increased prostate cancer risk
(G;G) 1 Normal prostate cancer risk
ReferenceGRCh38 38.1/141
Chromosome1
Position182585422
GeneRNASEL
is asnp
is mentioned by
dbSNPrs486907
ebirs486907
HLIrs486907
Exacrs486907
Varsomers486907
Maprs486907
PheGenIrs486907
hapmaprs486907
1000 genomesrs486907
hgdprs486907
ensemblrs486907
gopubmedrs486907
geneviewrs486907
scholarrs486907
googlers486907
pharmgkbrs486907
gwascentralrs486907
openSNPrs486907
23andMers486907
23andMe allrs486907
SNP Nexus

SNPshotrs486907
SNPdbers486907
MSV3drs486907
GWAS Ctlgrs486907
GMAF0.2447
Max Magnitude2
? (A;A) (A;G) (G;G) 28
rs486907 is a SNP in the RNase L RNASEL gene that has been associated with cancer risk. The basic rationale behind most of these studies is that RNase L is responsible for deactivating RNA-based viruses that are associated with certain cancers, and therefore SNPs that lead to lower RNase L activity may lead to increased cancer risk. This SNP is also known as R462Q or Arg462Gln.

In a study of prostate cancer patients, rs486907(A;G) heterozygotes were calculated to be at 1.5x increased risk, and rs486907(A;A) homozygotes 2x risk (p=0.007).[PMID 12415269]

This SNP was also associated with hereditary-prostate-cancer (HPC) predisposition with an odds ratio of 1.97 (p=0.07) in a study of 116 affected Finnish families.[PMID 11941539OA-icon.png]

See also:

OMIM180435
DescPROSTATE CANCER, SUSCEPTIBILITY TO
Variant0003
Relatedalso
[PMID 20564318OA-icon.png] Contribution of HPC1 (RNASEL) and HPCX variants to prostate cancer in a founder population

[PMID 21221811] RNASEL -1385G/A polymorphism and cancer risk: a meta-analysis based on 21 case-control studies


ClinVar
Risk rs486907(A;A)
Alt rs486907(A;A)
Reference rs486907(G;G)
Significance Other
Disease Prostate cancer
Variation info
Gene RNASEL
CLNDBN Prostate cancer, susceptibility to
Reversed 1
HGVS NC_000001.10:g.182554557C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013880.3,



[PMID 18566991OA-icon.png] Joint effects of inflammation and androgen metabolism on prostate cancer severity.


[PMID 18575592OA-icon.png] Germline mutation in RNASEL predicts increased risk of head and neck, uterine cervix and breast cancer.


[PMID 18676870OA-icon.png] Variants in inflammation genes and the risk of biliary tract cancers and stones: a population-based study in China.


[PMID 19379518OA-icon.png] Development of a fingerprinting panel using medically relevant polymorphisms.


[PMID 19567509OA-icon.png] Genetic variants and prostate cancer risk: candidate replication and exploration of viral restriction genes.


[PMID 20565774OA-icon.png] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.


GET Evidence
RNASEL-R462Q
aa_change Arg462Gln
aa_change_short R462Q
impact pathogenic
qualified_impact Low clinical importance, Uncertain pathogenic
overall_frequency 0.278026
summary Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.



[PMID 27318894] Association between RNASEL, MSR1, and ELAC2 single nucleotide polymorphisms and gene expression in prostate cancer risk.