NM_021133.4(RNASEL):c.3G>A (p.Met1Ile) AND Prostate cancer, hereditary, 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 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:: RCV000013879.23

Allele description [Variation Report for NM_021133.4(RNASEL):c.3G>A (p.Met1Ile)]

NM_021133.4(RNASEL):c.3G>A (p.Met1Ile)

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.3G>A (p.Met1Ile)

HGVS:

NC_000001.11:g.182586804C>T
NG_009024.2:g.5170G>A
NM_021133.4:c.3G>AMANE SELECT
NP_066956.1:p.Met1Ile
NC_000001.10:g.182555939C>T

Protein change:

M1I; MET1ILE

Links:

OMIM: 180435.0002; dbSNP: rs74315365

NCBI 1000 Genomes Browser:

rs74315365

Molecular consequence:

NM_021133.4:c.3G>A - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_021133.4:c.3G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Prostate cancer, hereditary, 1 (HPC1)
Identifiers:: MONDO: MONDO:0011098; MedGen: C4722327; Orphanet: 1331; OMIM: 601518

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000034126	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 2002)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000034126

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 2002)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

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

Germline mutations in the ribonuclease L gene in families showing linkage with HPC1.

Carpten J, Nupponen N, Isaacs S, Sood R, Robbins C, Xu J, Faruque M, Moses T, Ewing C, Gillanders E, Hu P, Bujnovszky P, Makalowska I, Baffoe-Bonnie A, Faith D, Smith J, Stephan D, Wiley K, Brownstein M, Gildea D, Kelly B, Jenkins R, et al.

Nat Genet. 2002 Feb;30(2):181-4. Epub 2002 Jan 22.

PubMed [citation]

PMID:: 11799394

Details of each submission

From OMIM, SCV000034126.2

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

Description

Carpten et al. (2002) found a germline mutation of the RNASEL gene in an African American family in which 6 brothers had prostate cancer (601518). The average age at diagnosis in this family was 59 years. The mutation was a G-to-A transition at the third nucleotide of the initiating methionine codon (AUG), predicted to change the initiating codon from methionine to isoleucine (M1I). The mutation was inherited heterozygously by 4 of the 6 affected brothers. Whereas 3 of the 4 mutation carriers had cancers with poor prognostic indicators, the 2 affected nonmutation carriers had cancers with clinical features associated with more favorable disease outcomes.

#	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: Sep 3, 2023

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