NM_000551.4(VHL):c.245G>C (p.Arg82Pro) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 2, 2014
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000724457.4

Allele description [Variation Report for NM_000551.4(VHL):c.245G>C (p.Arg82Pro)]

NM_000551.4(VHL):c.245G>C (p.Arg82Pro)

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.245G>C (p.Arg82Pro)

HGVS:

NC_000003.12:g.10142092G>C
NG_008212.3:g.5458G>C
NM_000551.4:c.245G>CMANE SELECT
NM_001354723.2:c.245G>C
NM_198156.3:c.245G>C
NP_000542.1:p.Arg82Pro
NP_000542.1:p.Arg82Pro
NP_001341652.1:p.Arg82Pro
NP_937799.1:p.Arg82Pro
LRG_322t1:c.245G>C
LRG_322:g.5458G>C
LRG_322p1:p.Arg82Pro
NC_000003.11:g.10183776G>C
NM_000551.3:c.245G>C
P40337:p.Arg82Pro

Protein change:

R82P

Links:

UniProtKB: P40337#VAR_005690; dbSNP: rs794726890

NCBI 1000 Genomes Browser:

rs794726890

Molecular consequence:

NM_000551.4:c.245G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354723.2:c.245G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_198156.3:c.245G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000224254	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Dec 2, 2014)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 10823831, 12202531, 20447124 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000224254

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Dec 2, 2014)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Hypoxia inducible factor-alpha binding and ubiquitylation by the von Hippel-Lindau tumor suppressor protein.

Cockman ME, Masson N, Mole DR, Jaakkola P, Chang GW, Clifford SC, Maher ER, Pugh CW, Ratcliffe PJ, Maxwell PH.

J Biol Chem. 2000 Aug 18;275(33):25733-41.

PubMed [citation]

PMID:: 10823831

Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.

Dollfus H, Massin P, Taupin P, Nemeth C, Amara S, Giraud S, Béroud C, Dureau P, Gaudric A, Landais P, Richard S.

Invest Ophthalmol Vis Sci. 2002 Sep;43(9):3067-74.

PubMed [citation]

PMID:: 12202531

See all PubMed Citations (3)

Details of each submission

From Eurofins Ntd Llc (ga), SCV000224254.5

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

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

Last Updated: Aug 5, 2023

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