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NM_000551.4(VHL):c.451A>G (p.Ile151Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 6, 2020)
Last evaluated:
Feb 16, 2019
Accession:
VCV000857570.1
Variation ID:
857570
Description:
single nucleotide variant
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NM_000551.4(VHL):c.451A>G (p.Ile151Val)

Allele ID
827295
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p25.3
Genomic location
3: 10146624 (GRCh38) GRCh38 UCSC
3: 10188308 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.10188308A>G
NC_000003.12:g.10146624A>G
NM_000551.4:c.451A>G MANE Select NP_000542.1:p.Ile151Val missense
... more HGVS
Protein change
I151V
Other names
-
Canonical SPDI
NC_000003.12:10146623:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Feb 16, 2019 RCV001063276.1
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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
Uncertain significance
(Feb 16, 2019)
criteria provided, single submitter
Method: clinical testing
Von Hippel-Lindau syndrome
Erythrocytosis, familial, 2
Allele origin: germline
Invitae
Accession: SCV001228114.1
Submitted: (Feb 06, 2020)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change replaces isoleucine with valine at codon 151 of the VHL protein (p.Ile151Val). The isoleucine 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
Genotype-Phenotype Correlation in Patients With Germline Mutations of <i>VHL, RET, SDHB</i>, and <i>SDHD</i> Genes: Thai Experience. Sriphrapradang C Clinical medicine insights. Endocrinology and diabetes 2017 PMID: 28469506
Genotype-phenotype correlations in Chinese von Hippel-Lindau disease patients. Peng S Oncotarget 2017 PMID: 28388566
Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease. Hwang S Journal of human genetics 2014 PMID: 25078357
Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients. Wu P Journal of human genetics 2012 PMID: 22357542
Low frequency of VHL germline mutations in Norwegian patients presenting with isolated central nervous system hemangioblastomas--a population-based study. Rønning P Acta neurologica Scandinavica 2010 PMID: 19814753
The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system. Gläsker S Journal of neurology, neurosurgery, and psychiatry 1999 PMID: 10567493

Record last updated May 10, 2021