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NM_021133.4(RNASEL):c.1591G>A (p.Val531Met) AND Prostate cancer, hereditary, 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 7, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003315481.1

Allele description [Variation Report for NM_021133.4(RNASEL):c.1591G>A (p.Val531Met)]

NM_021133.4(RNASEL):c.1591G>A (p.Val531Met)

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.1591G>A (p.Val531Met)
HGVS:
  • NC_000001.11:g.182582234C>T
  • NG_009024.2:g.9740G>A
  • NG_009024.3:g.12022G>A
  • NM_021133.4:c.1591G>AMANE SELECT
  • NP_066956.1:p.Val531Met
  • NC_000001.10:g.182551369C>T
  • NM_021133.3:c.1591G>A
Protein change:
V531M
Molecular consequence:
  • NM_021133.4:c.1591G>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004015165KCCC/NGS Laboratory, Kuwait Cancer Control Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 7, 2023) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV004015165.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant results in a change from valine to methionine at codon 531. This variant was not identified in the literature nor was it identified in ClinVar or Cosmic. In-silico predictions show Pathogenic computational verdict based on 8 pathogenic predictions from DANN, EIGEN, FATHMM-MKL, M-CAP, MutationAssessor, MutationTaster, PolyPhen and SIFT vs 5 benign predictions from BayesDel_addAF, DEOGEN2, LIST-S2, MVP and PrimateAI. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. Therefore, this variant is classified as a variant of uncertain

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2023