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NM_001354723.2(VHL):c.*164G>T

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 19, 2019
Accession:
VCV000526673.3
Variation ID:
526673
Description:
single nucleotide variant
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NM_001354723.2(VHL):c.*164G>T

Allele ID
518920
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p25.3
Genomic location
3: 10149933 (GRCh38) GRCh38 UCSC
3: 10191617 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.10191617G>T
NC_000003.12:g.10149933G>T
NM_000551.3:c.610G>T NP_000542.1:p.Glu204Ter nonsense
... more HGVS
Protein change
E204*, E163*
Other names
-
Canonical SPDI
NC_000003.12:10149932:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA041909
dbSNP: rs758853661
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Dec 19, 2019 RCV000631268.2
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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
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
Uncertain significance
(Dec 19, 2019)
criteria provided, single submitter
Method: clinical testing
Von Hippel-Lindau syndrome
Erythrocytosis, familial, 2
Allele origin: germline
Invitae
Accession: SCV000752296.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change results in a premature translational stop signal in the VHL gene (p.Glu204*). While this is not anticipated to result in nonsense mediated … (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
Role of the C-terminal alpha-helical domain of the von Hippel-Lindau protein in its E3 ubiquitin ligase activity. Lewis MD Oncogene 2004 PMID: 14691445
Molecular pathology of von HippelLindau disease and the VHL tumour suppressor gene. Richards FM Expert reviews in molecular medicine 2001 PMID: 14987375

Text-mined citations for rs758853661...

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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 May 10, 2021