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NM_000551.4(VHL):c.439A>G (p.Ile147Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Apr 26, 2021)
Last evaluated:
May 20, 2020
Accession:
VCV000371833.8
Variation ID:
371833
Description:
single nucleotide variant
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NM_000551.4(VHL):c.439A>G (p.Ile147Val)

Allele ID
358732
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p25.3
Genomic location
3: 10146612 (GRCh38) GRCh38 UCSC
3: 10188296 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.10188296A>G
NC_000003.12:g.10146612A>G
NG_008212.3:g.9978A>G
... more HGVS
Protein change
I147V
Other names
-
Canonical SPDI
NC_000003.12:10146611:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
The Genome Aggregation Database (gnomAD) 0.00002
Links
ClinGen: CA16042063
dbSNP: rs1057517560
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Apr 27, 2017 RCV000411268.2
Uncertain significance 1 criteria provided, single submitter Mar 28, 2016 RCV000455006.3
Uncertain significance 2 criteria provided, single submitter Nov 20, 2019 RCV000470728.7
Uncertain significance 1 criteria provided, single submitter May 20, 2020 RCV000562695.2
Uncertain significance 1 criteria provided, single submitter Oct 19, 2017 RCV000657081.1
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000764459.1
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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
Uncertain significance
(Apr 01, 2016)
criteria provided, single submitter
Method: clinical testing
Von Hippel-Lindau syndrome
Allele origin: unknown
Counsyl
Accession: SCV000488457.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Mar 28, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000540658.1
Submitted: (Apr 03, 2017)
Evidence details
Comment:
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or … (more)
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Renal cell carcinoma, nonpapillary
Pheochromocytoma
Von Hippel-Lindau syndrome
Erythrocytosis, familial, 2
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000895521.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Oct 19, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000568592.5
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted VHL c.439A>G at the cDNA level, p.Ile147Val (I147V) at the protein level, and results in the change of an Isoleucine to … (more)
Uncertain significance
(Nov 20, 2019)
criteria provided, single submitter
Method: clinical testing
Von Hippel-Lindau syndrome
Erythrocytosis, familial, 2
Allele origin: germline
Invitae
Accession: SCV000553381.6
Submitted: (Feb 06, 2020)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces isoleucine with valine at codon 147 of the VHL protein (p.Ile147Val). The isoleucine residue is moderately conserved and there is a … (more)
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Von Hippel-Lindau syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001304544.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Uncertain significance
(May 20, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000675798.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.I147V variant (also known as c.439A>G), located in coding exon 2 of the VHL gene, results from an A to G substitution at nucleotide … (more)
not provided
(-)
no assertion provided
Method: phenotyping only
Von Hippel-Lindau syndrome
Erythrocytosis, familial, 2
Allele origin: unknown
GenomeConnect - Invitae Patient Insights Network
Accession: SCV001749430.1
Submitted: (Apr 26, 2021)
Evidence details
Comment:
Variant interpreted as Uncertain significance and reported on 05-30-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided … (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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868
Bilateral renal tumors; conventional clear cell carcinoma and contralateral t(6;11)/t(X;17)-like tumor Histomorphologic, immunohistochemical, ultrastructural and molecular genetic studies including the report of a novel mutation in the VHL gene. Petersson F Annals of diagnostic pathology 2011 PMID: 20952280

Text-mined citations for rs1057517560...

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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