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NM_000551.3(VHL):c.482G>A (p.Arg161Gln)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Sep 28, 2021)
Last evaluated:
Dec 1, 2020
Accession:
VCV000182983.11
Variation ID:
182983
Description:
single nucleotide variant
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NM_000551.3(VHL):c.482G>A (p.Arg161Gln)

Allele ID
180121
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p25.3
Genomic location
3: 10149805 (GRCh38) GRCh38 UCSC
3: 10191489 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P40337:p.Arg161Gln
LRG_322:g.13171G>A
LRG_322t1:c.482G>A LRG_322p1:p.Arg161Gln
... more HGVS
Protein change
R161Q, R120Q
Other names
p.R161Q:CGA>CAA
Canonical SPDI
NC_000003.12:10149804:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA020413
UniProtKB: P40337#VAR_005751
dbSNP: rs730882035
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, multiple submitters, no conflicts Dec 1, 2020 RCV000161092.4
Pathogenic 3 criteria provided, single submitter Aug 18, 2019 RCV000208848.4
Pathogenic 1 criteria provided, single submitter Sep 9, 2020 RCV000456958.4
Pathogenic 1 criteria provided, single submitter Sep 22, 2017 RCV000563066.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
VHL Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
551 1350
LOC107303340 - - - GRCh38 - 774

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 30, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000211827.12
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted VHL c.482G>A at the cDNA level and p.Arg161Gln (R161Q) at the protein level. The R161Q pathogenic missense variant in the VHL … (more)
Pathogenic
(Jun 16, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000805352.1
Submitted: (Jun 11, 2018)
Evidence details
Pathogenic
(Aug 18, 2019)
criteria provided, single submitter
Method: clinical testing
Von Hippel-Lindau syndrome
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001362035.1
Submitted: (Mar 06, 2020)
Evidence details
Publications
PubMed (6)
Comment:
Variant summary: VHL c.482G>A (p.Arg161Gln) results in a conservative amino acid change located in the von Hippel-Lindau disease tumour suppressor, alpha domain (IPR024048) of the … (more)
Pathogenic
(Sep 22, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000664511.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.R161Q pathogenic mutation (also known as c.482G>A), located in coding exon 3 of the VHL gene, results from a G to A substitution at … (more)
Pathogenic
(Sep 09, 2020)
criteria provided, single submitter
Method: clinical testing
Von Hippel-Lindau syndrome
Erythrocytosis, familial, 2
Allele origin: germline
Invitae
Accession: SCV000553385.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (12)
Comment:
This sequence change replaces arginine with glutamine at codon 161 of the VHL protein (p.Arg161Gln). The arginine residue is highly conserved and there is a … (more)
Pathogenic
(Dec 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001500282.3
Submitted: (Jul 04, 2021)
Evidence details
Pathogenic
(Feb 26, 2016)
no assertion criteria provided
Method: clinical testing
Von Hippel-Lindau syndrome
Allele origin: germline
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia
Accession: SCV000264757.1
Submitted: (Mar 02, 2016)
Evidence details
Pathogenic
(Feb 22, 2017)
no assertion criteria provided
Method: clinical testing
Von Hippel-Lindau syndrome
Allele origin: germline
University Health Network Clinical Genomics Labs,University Health Network
Accession: SCV001950139.1
Submitted: (Sep 28, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis. Couvé S Cancer research 2014 PMID: 25371412
Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel-Lindau disease. Shah V Clinical ophthalmology (Auckland, N.Z.) 2014 PMID: 24707167
p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees. Qi XP Molecular medicine reports 2013 PMID: 23842656
VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations. Rechsteiner MP Cancer research 2011 PMID: 21715564
Molecular basis of von Hippel-Lindau syndrome in Chinese patients. Siu WK Chinese medical journal 2011 PMID: 21362373
Bilateral pheochromocytoma as first presentation of von Hippel-Lindau disease in a Chinese family. Tong AL Chinese medical sciences journal = Chung-kuo i hsueh k'o hsueh tsa chih 2009 PMID: 20120764
Mosaicism in von Hippel-Lindau disease: an event important to recognize. Santarpia L Journal of cellular and molecular medicine 2007 PMID: 18205710
Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions. Gallou C Human mutation 2004 PMID: 15300849
A variety of phenotype with R161Q germline mutation of the von Hippel-Lindau tumor suppressor gene in Japanese kindred. Iida K International journal of molecular medicine 2004 PMID: 14767570
Germ-line mutations in nonsyndromic pheochromocytoma. Neumann HP The New England journal of medicine 2002 PMID: 12000816
Elongin BC complex prevents degradation of von Hippel-Lindau tumor suppressor gene products. Schoenfeld AR Proceedings of the National Academy of Sciences of the United States of America 2000 PMID: 10900011
Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. Olschwang S Human mutation 1998 PMID: 9829912
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. Stolle C Human mutation 1998 PMID: 9829911
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. Zbar B Human mutation 1996 PMID: 8956040
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. Chen F Human mutation 1995 PMID: 7728151

Text-mined citations for rs730882035...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021