NM_000551.4(VHL):c.405A>C (p.Leu135Phe) AND Von Hippel-Lindau syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 15, 1994
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:: RCV000002307.3

Allele description [Variation Report for NM_000551.4(VHL):c.405A>C (p.Leu135Phe)]

NM_000551.4(VHL):c.405A>C (p.Leu135Phe)

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.405A>C (p.Leu135Phe)

HGVS:

NC_000003.12:g.10146578A>C
NG_008212.3:g.9944A>C
NG_046756.1:g.4340A>C
NM_000551.4:c.405A>CMANE SELECT
NM_001354723.2:c.*18-3209A>C
NM_198156.3:c.341-3209A>C
NP_000542.1:p.Leu135Phe
LRG_322:g.9944A>C
NC_000003.11:g.10188262A>C
P40337:p.Leu135Phe

Protein change:

L135F; LEU135PHE

Links:

UniProtKB: P40337#VAR_034995; OMIM: 608537.0008; dbSNP: rs119103278

NCBI 1000 Genomes Browser:

rs119103278

Molecular consequence:

NM_001354723.2:c.*18-3209A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_198156.3:c.341-3209A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_000551.4:c.405A>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
SCV000022465	OMIM	no assertion criteria provided	Pathogenic (Sep 15, 1994)	somatic	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

SCV000022465

OMIM

no assertion criteria provided

Pathogenic
(Sep 15, 1994)

somatic

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	somatic	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

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

Details of each submission

From OMIM, SCV000022465.2

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

Description

In a sporadic case of cerebellar hemangioblastoma, Kanno et al. (1994) identified a somatic missense mutation in exon 2 of the VHL gene: a 618A-C transversion, resulting in a leu135-to-phe 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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