NM_000551.4(VHL):c.263G>C (p.Trp88Ser) AND Von Hippel-Lindau syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 1995
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:: RCV000002306.5

Allele description [Variation Report for NM_000551.4(VHL):c.263G>C (p.Trp88Ser)]

NM_000551.4(VHL):c.263G>C (p.Trp88Ser)

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.263G>C (p.Trp88Ser)

HGVS:

NC_000003.12:g.10142110G>C
NG_008212.3:g.5476G>C
NM_000551.4:c.263G>CMANE SELECT
NM_001354723.2:c.263G>C
NM_198156.3:c.263G>C
NP_000542.1:p.Trp88Ser
NP_001341652.1:p.Trp88Ser
NP_937799.1:p.Trp88Ser
LRG_322:g.5476G>C
NC_000003.11:g.10183794G>C
P40337:p.Trp88Ser

Protein change:

W88S; TRP88SER

Links:

UniProtKB: P40337#VAR_005698; OMIM: 608537.0007; dbSNP: rs119103277

NCBI 1000 Genomes Browser:

rs119103277

Molecular consequence:

NM_000551.4:c.263G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354723.2:c.263G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_198156.3:c.263G>C - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000022463	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 1995)	somatic	literature only	PubMed (3) [See all records that cite these PMIDs] 7784063, 8069849, 8634692

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000022463

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 1995)

somatic

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	unknown	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Identification of the promoter of the human von Hippel-Lindau disease tumor suppressor gene.

Kuzmin I, Duh FM, Latif F, Geil L, Zbar B, Lerman MI.

Oncogene. 1995 Jun 1;10(11):2185-94.

PubMed [citation]

PMID:: 7784063

Somatic mutations of the von Hippel-Lindau tumor suppressor gene in sporadic central nervous system hemangioblastomas.

Kanno H, Kondo K, Ito S, Yamamoto I, Fujii S, Torigoe S, Sakai N, Hosaka M, Shuin T, Yao M.

Cancer Res. 1994 Sep 15;54(18):4845-7.

PubMed [citation]

PMID:: 8069849

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000022463.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

Description

Following the revised codon numbering system of Kuzmin et al. (1995), the TRP159SER mutation has been renumbered as TRP88SER (W88S).

In 13 sporadic cases of cerebellar hemangioblastoma, Kanno et al. (1994) sought somatic mutations in the VHL gene with single-strand conformation polymorphism analyses of the tumor DNAs. An abnormal SSCP pattern was detected in 7, and in 3 of these the mutation was successfully characterized by direct sequencing. The somatic mutations were 2 missense mutations and 1 deletion of a single base. One of the missense mutations was a 476G-C transversion, resulting in a trp-to-ser change. The codon number was not noted.

In a Japanese patient with von Hippel-Lindau syndrome (VHLS; 193300), the Clinical Research Group for VHL in Japan (1995) identified the 476G-C transversion, which resulted in a trp159-to-ser (W159S) substitution.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 5, 2023

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