NM_000551.3(VHL):c.491A>G (p.Gln164Arg) AND Von Hippel-Lindau syndrome

Clinical significance:Pathogenic (Last evaluated: Jul 1, 2010)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000002326.3

Allele description [Variation Report for NM_000551.3(VHL):c.491A>G (p.Gln164Arg)]

NM_000551.3(VHL):c.491A>G (p.Gln164Arg)

Gene:
VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_000551.3(VHL):c.491A>G (p.Gln164Arg)
HGVS:
  • NC_000003.12:g.10149814A>G
  • NG_008212.3:g.13180A>G
  • NM_000551.3:c.491A>G
  • NP_000542.1:p.Gln164Arg
  • LRG_322t1:c.491A>G
  • LRG_322:g.13180A>G
  • LRG_322p1:p.Gln164Arg
  • NC_000003.11:g.10191498A>G
  • P40337:p.Gln164Arg
Protein change:
Q164R; GLN164ARG
Links:
UniProtKB: P40337#VAR_005758; OMIM: 608537.0027; dbSNP: 267607170
NCBI 1000 Genomes Browser:
rs267607170
Molecular consequence:
  • NM_000551.3:c.491A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Von Hippel-Lindau syndrome (VHL)
Identifiers:
MedGen: C0019562; Orphanet: 892; OMIM: 193300
Age of onset:
Adult
Prevalence:
1-9 / 100 000 892

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000022484OMIMno assertion criteria providedPathogenic
(Jul 1, 2010)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Pheochromocytoma in a 2.75-year-old-girl with a germline von Hippel-Lindau mutation Q164R.

Sovinz P, Urban C, Uhrig S, Stepan V, Lackner H, Schwinger W, Benesch M, Moser A, Spuller E, Speicher MR.

Am J Med Genet A. 2010 Jul;152A(7):1752-5. doi: 10.1002/ajmg.a.33407.

PubMed [citation]
PMID:
20583150

Genotype-phenotype correlations in von Hippel-Lindau disease.

Ong KR, Woodward ER, Killick P, Lim C, Macdonald F, Maher ER.

Hum Mutat. 2007 Feb;28(2):143-9.

PubMed [citation]
PMID:
17024664

Details of each submission

From OMIM, SCV000022484.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a 2.5-year-old girl who presented with a pheochromocytoma but no other manifestations of von Hippel-Lindau syndrome (193300), Sovinz et al. (2010) identified a heterozygous 491A-G transition in exon 3 of the VHL gene, resulting in an gln164-to-arg (Q164R) substitution in a protein surface residue. Genotyping of the family indicated that she inherited the mutation from her father, in whom it occurred de novo. Although he was in good health and asymptomatic, detailed physical examination found a retinal angioma, an adrenal adenoma, and bilateral pheochromocytoma, consistent with VHL syndrome. Sovinz et al. (2010) noted that Ong et al. (2007) had identified the Q164R mutation in a family in which a patient developed pheochromocytoma at age 10 years and retinal angioma at age 23 years, suggesting that this mutation may be associated with early onset of symptoms.

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

Last Updated: Sep 23, 2016