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NM_000551.4(VHL):c.490C>T (p.Gln164Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Mar 28, 2019)
Last evaluated:
Oct 4, 2018
Accession:
VCV000223228.2
Variation ID:
223228
Description:
single nucleotide variant
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NM_000551.4(VHL):c.490C>T (p.Gln164Ter)

Allele ID
224958
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p25.3
Genomic location
3: 10149813 (GRCh38) GRCh38 UCSC
3: 10191497 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.10191497C>T
NC_000003.12:g.10149813C>T
NG_008212.3:g.13179C>T
... more HGVS
Protein change
Q164*, Q123*
Other names
-
Canonical SPDI
NC_000003.12:10149812:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA357060
dbSNP: rs5030819
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, single submitter Nov 1, 2016 RCV000208820.1
Pathogenic 1 criteria provided, single submitter Sep 15, 2015 RCV000485182.1
Pathogenic 1 criteria provided, single submitter Oct 4, 2018 RCV000792769.1
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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
Pathogenic
(Sep 15, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000567988.3
Submitted: (Nov 28, 2017)
Evidence details
Comment:
The Q164X variant has been published previously in association with von Hippel-Lindau (VHL) syndrome and pheochromocytoma (Hes et al., 2007; Galvac et al., 1996; Neumann … (more)
Pathogenic
(Nov 01, 2016)
criteria provided, single submitter
Method: clinical testing
Von Hippel-Lindau syndrome
Allele origin: germline
Center for Human Genetics, Inc,Center for Human Genetics, Inc
Accession: SCV000782419.1
Submitted: (Dec 20, 2017)
Evidence details
Pathogenic
(Oct 04, 2018)
criteria provided, single submitter
Method: clinical testing
Von Hippel-Lindau syndrome
Erythrocytosis, familial, 2
Allele origin: germline
Invitae
Accession: SCV000932089.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change results in a premature translational stop signal in the VHL gene (p.Gln164*). While this is not anticipated to result in nonsense mediated … (more)
Likely 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: SCV000264762.1
Submitted: (Mar 02, 2016)
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
Difference in CXCR4 expression between sporadic and VHL-related hemangioblastoma. Kruizinga RC Familial cancer 2016 PMID: 26920352
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
Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe. Glavac D Human genetics 1996 PMID: 8707293

Text-mined citations for rs5030819...

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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 Dec 04, 2021