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NM_000551.4(VHL):c.444del (p.Phe148fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 29, 2020
Accession:
VCV000223212.2
Variation ID:
223212
Description:
1bp deletion
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NM_000551.4(VHL):c.444del (p.Phe148fs)

Allele ID
224941
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
3p25.3
Genomic location
3: 10146613 (GRCh38) GRCh38 UCSC
3: 10188297 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000551.3:c.444delT frameshift
NC_000003.11:g.10188301del
NC_000003.12:g.10146617del
... more HGVS
Protein change
F148fs
Other names
-
Canonical SPDI
NC_000003.12:10146612:TTTTT:TTTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA357018
dbSNP: rs869025653
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jun 29, 2020 RCV001387330.1
Pathogenic 1 no assertion criteria provided Feb 26, 2016 RCV000208793.1
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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
(Jun 29, 2020)
criteria provided, single submitter
Method: clinical testing
Von Hippel-Lindau syndrome
Erythrocytosis, familial, 2
Allele origin: germline
Invitae
Accession: SCV001587933.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change results in a premature translational stop signal in the VHL gene (p.Phe148Leufs*11). While this is not anticipated to result in nonsense mediated … (more)
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: SCV000264738.1
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
Reconsideration of biallelic inactivation of the VHL tumour suppressor gene in hemangioblastomas of the central nervous system. Gläsker S Journal of neurology, neurosurgery, and psychiatry 2001 PMID: 11309459
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
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
Detection of a germline mutation and somatic homozygous loss of the von Hippel-Lindau tumor-suppressor gene in a family with a de novo mutation. A combined genetic study, including cytogenetics, PCR/SSCP, FISH, and CGH. Decker HJ Human genetics 1996 PMID: 8641695

Text-mined citations for rs869025653...

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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 24, 2021