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NM_000551.4(VHL):c.238A>C (p.Ser80Arg) AND Von Hippel-Lindau syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 5, 2016
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:
RCV000590356.1

Allele description [Variation Report for NM_000551.4(VHL):c.238A>C (p.Ser80Arg)]

NM_000551.4(VHL):c.238A>C (p.Ser80Arg)

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.238A>C (p.Ser80Arg)
HGVS:
  • NC_000003.12:g.10142085A>C
  • NG_008212.3:g.5451A>C
  • NM_000551.4:c.238A>CMANE SELECT
  • NM_001354723.2:c.238A>C
  • NM_198156.3:c.238A>C
  • NP_000542.1:p.Ser80Arg
  • NP_000542.1:p.Ser80Arg
  • NP_001341652.1:p.Ser80Arg
  • NP_937799.1:p.Ser80Arg
  • LRG_322t1:c.238A>C
  • LRG_322:g.5451A>C
  • LRG_322p1:p.Ser80Arg
  • NC_000003.11:g.10183769A>C
  • NM_000551.3:c.238A>C
Protein change:
S80R
Links:
dbSNP: rs786202787
NCBI 1000 Genomes Browser:
rs786202787
Molecular consequence:
  • NM_000551.4:c.238A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354723.2:c.238A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198156.3:c.238A>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000697486Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Pathogenic
(Feb 5, 2016) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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

High frequency of novel germline mutations in the VHL gene in the heterogeneous population of Brazil.

Rocha JC, Silva RL, Mendonça BB, Marui S, Simpson AJ, Camargo AA.

J Med Genet. 2003 Mar;40(3):e31. No abstract available.

PubMed [citation]
PMID:
12624160
PMCID:
PMC1735383

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000697486.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Variant summary: The c.238A>C variant affects a conserved nucleotide, resulting in amino acid change from Ser to Arg. 4/4 in-silico tools predict damaging outcome for this variant. This variant has been reported in mutlitple VHL patients, including 10 affected members in one family. The variant is not found in 95076 control chromosomes. In addition, one reputable database classified this variant as "mutation". Amino acid changes at Ser80 (Ser80Gly, Ser80Ile, Ser80Asn) have been classified as pathogenic/likely pathogenic. Taken together, this variant was classified as pathogenic.

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

Last Updated: Aug 5, 2023