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NM_000551.4(VHL):c.332G>A (p.Ser111Asn) AND Von Hippel-Lindau syndrome

Germline classification:
Pathogenic (2 submissions)
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:
RCV000208834.1

Allele description [Variation Report for NM_000551.4(VHL):c.332G>A (p.Ser111Asn)]

NM_000551.4(VHL):c.332G>A (p.Ser111Asn)

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.332G>A (p.Ser111Asn)
HGVS:
  • NC_000003.12:g.10142179G>A
  • NG_008212.3:g.5545G>A
  • NM_000551.4:c.332G>AMANE SELECT
  • NM_001354723.2:c.332G>A
  • NM_198156.3:c.332G>A
  • NP_000542.1:p.Ser111Asn
  • NP_000542.1:p.Ser111Asn
  • NP_001341652.1:p.Ser111Asn
  • NP_937799.1:p.Ser111Asn
  • LRG_322t1:c.332G>A
  • LRG_322:g.5545G>A
  • LRG_322p1:p.Ser111Asn
  • NC_000003.11:g.10183863G>A
  • NM_000551.3:c.332G>A
  • P40337:p.Ser111Asn
  • p.[Ser111Asn]
Protein change:
S111N
Links:
UniProtKB: P40337#VAR_005715; dbSNP: rs869025631
NCBI 1000 Genomes Browser:
rs869025631
Molecular consequence:
  • NM_000551.4:c.332G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354723.2:c.332G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198156.3:c.332G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
7

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
SCV000264708Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
no assertion criteria provided
Pathogenic
(Feb 26, 2016) 		germlineclinical testing

SCV000697498Women'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 (12)
[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 providedgermlineyes7not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Trichloroethylene exposure and somatic mutations of the VHL gene in patients with Renal Cell Carcinoma.

Charbotel B, Gad S, Caïola D, Béroud C, Fevotte J, Bergeret A, Ferlicot S, Richard S.

J Occup Med Toxicol. 2007 Nov 12;2:13. doi: 10.1186/1745-6673-2-13.

PubMed [citation]
PMID:
17997830
PMCID:
PMC2211482

Comparative sequence analysis (CSA): a new sequence-based method for the identification and characterization of mutations in DNA.

Mattocks C, Tarpey P, Bobrow M, Whittaker J.

Hum Mutat. 2000 Nov;16(5):437-43.

PubMed [citation]
PMID:
11058902
See all PubMed Citations (12)

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000264708.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided7not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided7not providednot providednot provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000697498.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (12)

Description

Variant summary: This c.332G>A variant affects a conserved nucleotide, resulting in amino acid change from Ser to Asn. Although 4/4 in-silico tools predict this variant to be benign, no functional studies have been performed to confirm these predictions. This variant was not found in approximately 92088 control chromosomes including the broad and large populations from ExAC. In literature, the variant has been widely reported as a pathogenic variant found in several patients/families with VHL disease, including somatic occurrences. This p.Ser111 is likely to be a mutational hot-spot where other likely pathogenic variant [such as p.S111R (c.331A>C and c.333C>G), p.S111C, p.S111I, etc.] have also been reported. At least one reputable database classifies the variant as pathogenic. Taken together, this variant has been classified as a Pathogenic.

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

Last Updated: Sep 29, 2024