NM_000551.4(VHL):c.626A>G (p.Gln209Arg) AND Hereditary cancer-predisposing syndrome

Clinical significance:Uncertain significance (Last evaluated: Nov 28, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001025058.1

Allele description [Variation Report for NM_000551.4(VHL):c.626A>G (p.Gln209Arg)]

NM_000551.4(VHL):c.626A>G (p.Gln209Arg)

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.626A>G (p.Gln209Arg)
HGVS:
  • NC_000003.12:g.10149949A>G
  • NG_008212.3:g.13315A>G
  • NG_046756.1:g.7711A>G
  • NM_000551.4:c.626A>GMANE SELECT
  • NM_001354723.2:c.*180A>G
  • NM_198156.3:c.503A>G
  • NP_000542.1:p.Gln209Arg
  • NP_937799.1:p.Gln168Arg
  • LRG_322t1:c.626A>G
  • LRG_322:g.13315A>G
  • NC_000003.11:g.10191633A>G
  • NM_000551.3:c.626A>G
Protein change:
Q168R
Links:
dbSNP: rs770746627
NCBI 1000 Genomes Browser:
rs770746627
Molecular consequence:
  • NM_001354723.2:c.*180A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000551.4:c.626A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198156.3:c.503A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001187180Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Nov 28, 2018)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Associations between VHL genotype and clinical phenotype in familial von Hippel-Lindau disease.

Huang JS, Huang CJ, Chen SK, Chien CC, Chen CW, Lin CM.

Eur J Clin Invest. 2007 Jun;37(6):492-500.

PubMed [citation]
PMID:
17537157

Details of each submission

From Ambry Genetics, SCV001187180.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.Q209R variant (also known as c.626A>G), located in coding exon 3 of the VHL gene, results from an A to G substitution at nucleotide position 626. The glutamine at codon 209 is replaced by arginine, an amino acid with highly similar properties. This alteration (designated as Gln209Arg) was previously reported in an individual with a clinical diagnosis of VHL and a personal history of CNS hemangioblastoma and pancreatic cyst; however, a deletion involving the entire VHL gene was also detected in this individual (Huang JS et al. Eur. J. Clin. Invest., 2007 Jun;37:492-500). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Jan 9, 2021

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