NM_021133.4(RNASEL):c.1385G>A (p.Arg462Gln) AND Prostate cancer, susceptibility to

Germline classification:: risk factor (1 submission)
Last evaluated:: Dec 1, 2002
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000013880.3

Allele description [Variation Report for NM_021133.4(RNASEL):c.1385G>A (p.Arg462Gln)]

NM_021133.4(RNASEL):c.1385G>A (p.Arg462Gln)

Gene:

RNASEL:ribonuclease L [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q25.3

Genomic location:

Preferred name:

NM_021133.4(RNASEL):c.1385G>A (p.Arg462Gln)

HGVS:

NC_000001.11:g.182585422C>T
NG_009024.2:g.6552G>A
NM_021133.4:c.1385G>AMANE SELECT
NP_066956.1:p.Arg462Gln
NC_000001.10:g.182554557C>T
Q05823:p.Arg462Gln

Protein change:

R462Q; ARG462GLN

Links:

UniProtKB: Q05823#VAR_012056; OMIM: 180435.0003; dbSNP: rs486907

NCBI 1000 Genomes Browser:

rs486907

Molecular consequence:

NM_021133.4:c.1385G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Prostate cancer, susceptibility to
Identifiers:: MedGen: CN300425

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000034127	OMIM	no assertion criteria provided	risk factor (Dec 1, 2002)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 12415269, 16609730

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000034127

OMIM

no assertion criteria provided

risk factor
(Dec 1, 2002)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

RNASEL Arg462Gln variant is implicated in up to 13% of prostate cancer cases.

Casey G, Neville PJ, Plummer SJ, Xiang Y, Krumroy LM, Klein EA, Catalona WJ, Nupponen N, Carpten JD, Trent JM, Silverman RH, Witte JS.

Nat Genet. 2002 Dec;32(4):581-3. Epub 2002 Nov 4.

PubMed [citation]

PMID:: 12415269

Identification of a novel Gammaretrovirus in prostate tumors of patients homozygous for R462Q RNASEL variant.

Urisman A, Molinaro RJ, Fischer N, Plummer SJ, Casey G, Klein EA, Malathi K, Magi-Galluzzi C, Tubbs RR, Ganem D, Silverman RH, DeRisi JL.

PLoS Pathog. 2006 Mar;2(3):e25. Epub 2006 Mar 31. Retraction in: PLoS Pathog. 2012 Sep;8(9). doi: 10.1371/annotation/7e2efc01-2e9b-4e9b-aef0-87ab0e4e4732.

PubMed [citation]

PMID:: 16609730
PMCID:: PMC1434790

Details of each submission

From OMIM, SCV000034127.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In addition to the rare inactivating germline mutations associated with hereditary prostate cancer linked to HPC1 (601518), some relatively common RNASEL variants have been found in some families. Casey et al. (2002) found that one of these, arg462 to gln (R462Q), is associated with 3 times less enzymatic activity than the wildtype and is significantly associated with prostate cancer risk (P = 0.007). At least one copy of the mutated allele that causes this substitution was carried by nearly 60% of the men in their study. Men who were heterozygous with respect to the mutated allele had 50% greater risk of prostate cancer than noncarriers, and homozygotes had more than double the risk.

Urisman et al. (2006) reported an association of xenotropic murine leukemia-related virus (XMRV) with prostate tumors in patients homozygous for the R462Q variant; based on other reports refuting this association, the editors of PloS Pathogens retracted the article by Urisman et al. (2006).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 14, 2024

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