{{Rsnum
|rsid=486907
|Gene=RNASEL
|Chromosome=1
|position=182585422
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.2447
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=RNASEL
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 13.3 | 50.4 | 36.3
| HCB | 5.2 | 35.6 | 59.3
| JPT | 6.4 | 24.8 | 68.8
| YRI | 0.0 | 15.6 | 84.4
| ASW | 0.0 | 22.8 | 77.2
| CHB | 5.2 | 35.6 | 59.3
| CHD | 3.7 | 31.5 | 64.8
| GIH | 14.0 | 47.0 | 39.0
| LWK | 0.0 | 4.7 | 95.3
| MEX | 6.9 | 25.9 | 67.2
| MKK | 0.6 | 21.3 | 78.1
| TSI | 13.7 | 47.1 | 39.2
| HapMapRevision=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|11941539|OA=1
}}

See also:
{{omim
|desc=PROSTATE CANCER, SUSCEPTIBILITY TO
|id=180435
|rsnum=486907
|variant=0003
}}

{{PMID Auto
|PMID=20564318
|Title=Contribution of HPC1 (RNASEL) and HPCX variants to prostate cancer in a founder population
|OA=1
}}
{{PMID Auto
|PMID=21221811
|Title=RNASEL -1385G/A polymorphism and cancer risk: a meta-analysis based on 21 case-control studies
}}

{{ClinVar
|rsid=486907
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=182585422
|CHROM=1
|GMAF=0.244
|dbSNPBuildID=83
|SSR=0
|SAO=1
|VP=0x050168000a15150517110100
|GENEINFO=RNASEL:6041
|GENE_NAME=RNASEL
|GENE_ID=6041
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.182585422C>T
|CLNORIGIN=1
|CLNSIG=255
|Tags=RV;PM;PMC;SLO;NSM;REF;OTH;ASP;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.7553; 0.2447
|CLNACC=RCV000013880.2
|CLNDBN=Prostate cancer, susceptibility to
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNSRCID=NM_021133.3:c.1385G>A; 180435.0003
|COMMON=1
|Disease=Prostate cancer
}}

{{PMID Auto
|PMID=18566991
|Title=Joint effects of inflammation and androgen metabolism on prostate cancer severity.
|OA=1
}}

{{PMID Auto
|PMID=18575592
|Title=Germline mutation in RNASEL predicts increased risk of head and neck, uterine cervix and breast cancer.
|OA=1
}}

{{PMID Auto
|PMID=18676870
|Title=Variants in inflammation genes and the risk of biliary tract cancers and stones: a population-based study in China.
|OA=1
}}

{{PMID Auto
|PMID=19379518
|Title=Development of a fingerprinting panel using medically relevant polymorphisms.
|OA=1
}}

{{PMID Auto
|PMID=19567509
|Title=Genetic variants and prostate cancer risk: candidate replication and exploration of viral restriction genes.
|OA=1
}}

{{PMID Auto
|PMID=20565774
|Title=Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
|OA=1
}}

{{GET Evidence
|gene=RNASEL
|aa_change=Arg462Gln
|aa_change_short=R462Q
|impact=pathogenic
|qualified_impact=Low clinical importance, Uncertain pathogenic
|inheritance=other
|quality_scores=Array
|dbsnp_id=rs486907
|overall_frequency_n=2991
|overall_frequency_d=10758
|overall_frequency=0.278026
|n_genomes=19
|n_genomes_annotated=0
|n_haplomes=22
|n_articles=4
|n_articles_annotated=4
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_case_control=2
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=4
|qualityscore_treatability=4
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.964
|genetests_testable=Y
|nblosum100=0
|autoscore=4
|webscore=N
|n_web_uneval=10
|variant_evidence=0
|clinical_importance=0
|summary_short=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.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}