NM_000551.3(VHL):c.562C>G (p.Leu188Val) AND Pheochromocytoma

Clinical significance:Pathogenic (Last evaluated: Apr 22, 2013)

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:
RCV000002313.1

Allele description [Variation Report for NM_000551.3(VHL):c.562C>G (p.Leu188Val)]

NM_000551.3(VHL):c.562C>G (p.Leu188Val)

Gene:
VHL:von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_000551.3(VHL):c.562C>G (p.Leu188Val)
HGVS:
  • NC_000003.12:g.10149885C>G
  • NG_008212.3:g.13251C>G
  • NM_000551.3:c.562C>G
  • NP_000542.1:p.Leu188Val
  • NC_000003.11:g.10191569C>G
Protein change:
L188V; LEU188VAL
Links:
OMIM: 608537.0014; dbSNP: 5030824
NCBI 1000 Genomes Browser:
rs5030824
Molecular consequence:
  • NM_000551.3:c.562C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pheochromocytoma (PHEO)
Synonyms:
Chromaffinoma; Chromaffin paraganglioma; Chromaffin tumor; See all synonyms [MedGen]
Identifiers:
MedGen: C0031511; Orphanet: 29072; OMIM: 171300
Age of onset:
Childhood
Prevalence:
1-9 / 1 000 000 29072

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000022471OMIMno assertion criteria providedPathogenic
(Apr 22, 2013)
germlineliterature only

PubMed (5)
[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

Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.

Zbar B, Kishida T, Chen F, Schmidt L, Maher ER, Richards FM, Crossey PA, Webster AR, Affara NA, Ferguson-Smith MA, Brauch H, Glavac D, Neumann HP, Tisherman S, Mulvihill JJ, Gross DJ, Shuin T, Whaley J, Seizinger B, Kley N, Olschwang S, Boisson C, et al.

Hum Mutat. 1996;8(4):348-57.

PubMed [citation]
PMID:
8956040

Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II.

Neumann HP, Eng C, Mulligan LM, Glavac D, Zäuner I, Ponder BA, Crossey PA, Maher ER, Brauch H.

JAMA. 1995 Oct 11;274(14):1149-51.

PubMed [citation]
PMID:
7563486
See all PubMed Citations (5)

Details of each submission

From OMIM, SCV000022471.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (5)

Description

In a family with VHL (193300), Neumann et al. (1995) identified a leu188-to-val (L188V) mutation in the VHL gene. Nine patients had pheochromocytoma without renal carcinoma (Zbar et al., 1996).

In 6 members of the same German family identified by Neumann et al. (1995) with von Hippel-Lindau syndrome type 2C, Weirich et al. (2002) found a P81S mutation in the VHL gene (608537.0020) which cosegregated with the L188V mutation. Weirich et al. (2002) discussed the possible impact of these mutations on protein function and phenotype.

In 2 unrelated white American children, a 15-year-old male and a 13-year-old female, who presented at 5 years of age with familial erythrocytosis (ECYT2; 263400), Pastore et al. (2003) identified a 562C-G transversion in the VHL gene, resulting in the L188V mutation. In both patients the mutation was in compound heterozygous state with the common R200W mutation (608537.0019).

Neumann et al. (2002) identified the L188V mutation in the germline of a patient with sporadic pheochromocytoma (171300). The mutation was not identified in 600 control chromosomes.

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

Last Updated: Jun 29, 2015