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NM_000551.4(VHL):c.341-1G>A AND Von Hippel-Lindau syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 28, 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:
RCV003447574.1

Allele description [Variation Report for NM_000551.4(VHL):c.341-1G>A]

NM_000551.4(VHL):c.341-1G>A

Genes:
LOC107303340:3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region [Gene]
VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_000551.4(VHL):c.341-1G>A
HGVS:
  • NC_000003.12:g.10146513G>A
  • NG_008212.3:g.9879G>A
  • NG_046756.1:g.4275G>A
  • NM_000551.4:c.341-1G>AMANE SELECT
  • NM_001354723.2:c.*18-3274G>A
  • NM_198156.3:c.341-3274G>A
  • LRG_322t1:c.341-1G>A
  • LRG_322:g.9879G>A
  • NC_000003.11:g.10188197G>A
  • NM_000551.3:c.341-1G>A
Links:
dbSNP: rs1575927648
NCBI 1000 Genomes Browser:
rs1575927648
Molecular consequence:
  • NM_001354723.2:c.*18-3274G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198156.3:c.341-3274G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000551.4:c.341-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Von Hippel-Lindau syndrome (VHLS)
Synonyms:
VHL syndrome; Von Hippel-Lindau
Identifiers:
MONDO: MONDO:0008667; MedGen: C0019562; Orphanet: 892; OMIM: 193300

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004175221Genetics and Molecular Pathology, SA Pathology

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Apr 28, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Childhood cerebellar hemangioblastoma does not predict germline or somatic mutations in the von Hippel-Lindau tumor suppressor gene.

Fisher PG, Tontiplaphol A, Pearlman EM, Duffner PK, Hyder DJ, Stolle CA, Vortmeyer AO, Zhuang Z.

Ann Neurol. 2002 Feb;51(2):257-60.

PubMed [citation]
PMID:
11835384

Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation.

Gomy I, Molfetta GA, de Andrade Barreto E, Ferreira CA, Zanette DL, Casali-da-Rocha JC, Silva WA Jr.

Fam Cancer. 2010 Dec;9(4):635-42. doi: 10.1007/s10689-010-9357-2.

PubMed [citation]
PMID:
20567917
See all PubMed Citations (3)

Details of each submission

From Genetics and Molecular Pathology, SA Pathology, SCV004175221.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The VHL c.341-1G>A variant is classified as Pathogenic (PVS1, PM2, PS4_moderate) The VHL c.341-1G>A variant is located at the canonical acceptor splice site of intron 1. Computational predictions support a deleterious effect on splicing and a likely disruption of the protein reading frame (PVS1). The variant has been reported in two unrelated individuals with a phenotype of VHL and RNA studies demonstrate skipping of exon 2 (PMID: 20567917, 11835384) (PS4_moderate) This variant is absent from population databases (PM2). The variant has been reported in dbSNP (rs1575927648) and in the HGMD database as disease causing (CS107609). It has been reported as pathogenic by another diagnostic laboratory (ClinVar Variation ID: 823743).

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

Last Updated: May 1, 2024