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NM_000551.4(VHL):c.484T>C (p.Cys162Arg)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 26, 2020
Accession:
VCV000496067.4
Variation ID:
496067
Description:
single nucleotide variant
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NM_000551.4(VHL):c.484T>C (p.Cys162Arg)

Allele ID
487017
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p25.3
Genomic location
3: 10149807 (GRCh38) GRCh38 UCSC
3: 10191491 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.12:g.10149807T>C
NG_008212.3:g.13173T>C
NG_046756.1:g.7569T>C
... more HGVS
Protein change
C162R, C121R
Other names
-
Canonical SPDI
NC_000003.12:10149806:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA351756117
dbSNP: rs1553620313
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Aug 1, 2018 RCV000587033.2
Pathogenic 1 criteria provided, single submitter Oct 26, 2020 RCV001060967.2
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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
Pathogenic
(Aug 31, 2016)
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: SCV000697521.1
Submitted: (Jan 25, 2018)
Evidence details
Publications
PubMed (7)
Comment:
Variant summary: The c.484C>T (p.Cys162Arg) in VHL gene is a missense change that involves a non-conserved nucleotide and 5/5 in silico tools predict deleterious outcome. … (more)
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: SCV000897833.1
Submitted: (Jan 10, 2019)
Evidence details
Pathogenic
(Oct 26, 2020)
criteria provided, single submitter
Method: clinical testing
Von Hippel-Lindau syndrome
Erythrocytosis, familial, 2
Allele origin: germline
Invitae
Accession: SCV001225689.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (10)
Comment:
This sequence change replaces cysteine with arginine at codon 162 of the VHL protein (p.Cys162Arg). The cysteine residue is highly conserved and there is a … (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
VHL missense mutations in the p53 binding domain show different effects on p53 signaling and HIFα degradation in clear cell renal cell carcinoma. Razafinjatovo CF Oncotarget 2017 PMID: 28052007
Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry. Bausch B Head & neck 2016 PMID: 25867206
VHL and HIF-1α: gene variations and prognosis in early-stage clear cell renal cell carcinoma. Lessi F Medical oncology (Northwood, London, England) 2014 PMID: 24446253
Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis. Cho HJ Journal of Korean medical science 2009 PMID: 19270817
PKCzetaII is a target for degradation through the tumour suppressor protein pVHL. Iturrioz X FEBS letters 2007 PMID: 17350623
VHL gene alterations in renal cell carcinoma patients: novel hotspot or founder mutations and linkage disequilibrium. Ma X Oncogene 2001 PMID: 11536052
Germ-line mutation analysis in patients with von Hippel-Lindau disease in Japan: an extended study of 77 families. Yoshida M Japanese journal of cancer research : Gann 2000 PMID: 10761708
Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. Olschwang S Human mutation 1998 PMID: 9829912
Genotype-phenotype correlations in von Hippel-Lindau disease. Neumann HP Journal of internal medicine 1998 PMID: 9681856
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
Molecular genetic diagnosis of von Hippel-Lindau disease: analysis of five Japanese families. Kanno H Japanese journal of cancer research : Gann 1996 PMID: 8641976
Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan. - Human molecular genetics 1995 PMID: 8634692
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 rs1553620313...

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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 30, 2021