NM_000551.4(VHL):c.277G>A (p.Gly93Ser) AND Pheochromocytoma

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 9, 2002
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:: RCV000002325.3

Allele description [Variation Report for NM_000551.4(VHL):c.277G>A (p.Gly93Ser)]

NM_000551.4(VHL):c.277G>A (p.Gly93Ser)

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.277G>A (p.Gly93Ser)

HGVS:

NC_000003.12:g.10142124G>A
NG_008212.3:g.5490G>A
NM_000551.4:c.277G>AMANE SELECT
NM_001354723.2:c.277G>A
NM_198156.3:c.277G>A
NP_000542.1:p.Gly93Ser
NP_000542.1:p.Gly93Ser
NP_001341652.1:p.Gly93Ser
NP_937799.1:p.Gly93Ser
LRG_322t1:c.277G>A
LRG_322:g.5490G>A
LRG_322p1:p.Gly93Ser
NC_000003.11:g.10183808G>A
NM_000551.3:c.277G>A
P40337:p.Gly93Ser
p.[Gly93Ser]

Protein change:

G93S; GLY93SER

Links:

UniProtKB: P40337#VAR_005705; OMIM: 608537.0026; dbSNP: rs5030808

NCBI 1000 Genomes Browser:

rs5030808

Molecular consequence:

NM_000551.4:c.277G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354723.2:c.277G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_198156.3:c.277G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Pheochromocytoma
Synonyms:: Chromaffinoma; Chromaffin paraganglioma; Chromaffin tumor; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008233; MedGen: C0031511; Orphanet: 29072; OMIM: 171300; Human Phenotype Ontology: HP:0002666

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000022483	OMIM	no assertion criteria provided	Pathogenic (May 9, 2002)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000022483

OMIM

no assertion criteria provided

Pathogenic
(May 9, 2002)

germline

literature only

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

Help

Summary from all submissions

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

Citations

PubMed

Germ-line mutations in nonsyndromic pheochromocytoma.

Neumann HP, Bausch B, McWhinney SR, Bender BU, Gimm O, Franke G, Schipper J, Klisch J, Altehoefer C, Zerres K, Januszewicz A, Eng C, Smith WM, Munk R, Manz T, Glaesker S, Apel TW, Treier M, Reineke M, Walz MK, Hoang-Vu C, Brauckhoff M, et al.

N Engl J Med. 2002 May 9;346(19):1459-66.

PubMed [citation]

PMID:: 12000816

Details of each submission

From OMIM, SCV000022483.2

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

Description

In the germlines of 2 unrelated patients with sporadic pheochromocytoma (171300), Neumann et al. (2002) identified a 490G-A transition in exon 1 of the VHL gene, resulting in a gly93-to-ser (G93S) substitution. The mutation was not identified in 600 control chromosomes.

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

Last Updated: May 1, 2024

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