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NM_000551.4(VHL):c.500G>C (p.Arg167Pro)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Nov 30, 2020)
Last evaluated:
Aug 28, 2018
Accession:
VCV000428799.4
Variation ID:
428799
Description:
single nucleotide variant
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NM_000551.4(VHL):c.500G>C (p.Arg167Pro)

Allele ID
420451
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p25.3
Genomic location
3: 10149823 (GRCh38) GRCh38 UCSC
3: 10191507 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_322:g.13189G>C
LRG_322t1:c.500G>C LRG_322p1:p.Arg167Pro
NM_000551.3:c.500G>C NP_000542.1:p.Arg167Pro missense
... more HGVS
Protein change
R167P, R126P
Other names
-
Canonical SPDI
NC_000003.12:10149822:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA351756177
dbSNP: rs5030821
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Aug 28, 2018 RCV000492510.1
Likely pathogenic 1 criteria provided, single submitter Aug 1, 2018 RCV000767282.1
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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
550 1356
LOC107303340 - - - GRCh38 - 775

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Aug 01, 2018)
criteria provided, single submitter
Method: clinical testing
von Hippel-Lindau syndrome
Allele origin: germline
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia
Accession: SCV000897840.1
Submitted: (Jan 10, 2019)
Evidence details
Pathogenic
(Aug 28, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000580969.4
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (5)
Comment:
The p.R167P pathogenic mutation (also known as c.500G>C), located in coding exon 3 of the VHL gene, results from a G to C substitution at … (more)

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
Genotype-phenotype correlations in Chinese von Hippel-Lindau disease patients. Peng S Oncotarget 2017 PMID: 28388566
Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry. Bausch B Head & neck 2016 PMID: 25867206
Pilot trial of sunitinib therapy in patients with von Hippel-Lindau disease. Jonasch E Annals of oncology : official journal of the European Society for Medical Oncology 2011 PMID: 22105611
Genotype-phenotype correlations in von Hippel-Lindau disease. Ong KR Human mutation 2007 PMID: 17024664
Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. Crossey PA Human molecular genetics 1994 PMID: 7987306

Text-mined citations for rs5030821...

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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 24, 2021