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NM_000551.4(VHL):c.524A>G (p.Tyr175Cys) AND Von Hippel-Lindau syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 18, 2011
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:
RCV000030589.2

Allele description [Variation Report for NM_000551.4(VHL):c.524A>G (p.Tyr175Cys)]

NM_000551.4(VHL):c.524A>G (p.Tyr175Cys)

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.524A>G (p.Tyr175Cys)
HGVS:
  • NC_000003.12:g.10149847A>G
  • NG_008212.3:g.13213A>G
  • NG_046756.1:g.7609A>G
  • NM_000551.4:c.524A>GMANE SELECT
  • NM_001354723.2:c.*78A>G
  • NM_198156.3:c.401A>G
  • NP_000542.1:p.Tyr175Cys
  • NP_000542.1:p.Tyr175Cys
  • NP_937799.1:p.Tyr134Cys
  • LRG_322t1:c.524A>G
  • LRG_322:g.13213A>G
  • LRG_322p1:p.Tyr175Cys
  • NC_000003.11:g.10191531A>G
  • NM_000551.3:c.524A>G
Protein change:
Y134C
Links:
dbSNP: rs193922613
NCBI 1000 Genomes Browser:
rs193922613
Molecular consequence:
  • NM_001354723.2:c.*78A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000551.4:c.524A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198156.3:c.401A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000053266Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
likely pathogenic
(Aug 18, 2011)
germlinecuration, clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot provided2not providedcuration
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients.

Bento MC, Chang KT, Guan Y, Liu E, Caldas G, Gatti RA, Prchal JT.

Haematologica. 2005 Jan;90(1):128-9.

PubMed [citation]
PMID:
15642680

Erythropoietin gene expression in renal carcinoma is considerably more frequent than paraneoplastic polycythemia.

Wiesener MS, Münchenhagen P, Gläser M, Sobottka BA, Knaup KX, Jozefowski K, Jürgensen JS, Roigas J, Warnecke C, Gröne HJ, Maxwell PH, Willam C, Eckardt KU.

Int J Cancer. 2007 Dec 1;121(11):2434-42.

PubMed [citation]
PMID:
17640059
See all PubMed Citations (4)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000053266.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedcuration PubMed (4)
2not providednot providednot providednot providedclinical testing PubMed (4)

Description

"Proband with VHL; authors state variant co-segregates with disease in this family (data not shown); assumed at least 1 other concordant family member; not found in controls (see pbGP)"

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes2not providednot provided2not providednot providednot provided
2germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 2

Co-occurrences

#ZygosityAllelesNumber of Observations
2SingleHeterozygoteRET:c.1296A>G, RET:c.2307G>T, RET:c.135A>G, SDHB:c.18C>A1

Last Updated: Sep 29, 2024