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NM_000551.4(VHL):c.160A>T (p.Met54Leu)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 17, 2019
Accession:
VCV000843990.2
Variation ID:
843990
Description:
single nucleotide variant
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NM_000551.4(VHL):c.160A>T (p.Met54Leu)

Allele ID
827283
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p25.3
Genomic location
3: 10142007 (GRCh38) GRCh38 UCSC
3: 10183691 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000551.4:c.160A>T MANE Select NP_000542.1:p.Met54Leu missense
NM_001354723.2:c.160A>T NP_001341652.1:p.Met54Leu missense
NM_198156.3:c.160A>T NP_937799.1:p.Met54Leu missense
... more HGVS
Protein change
M54L
Other names
-
Canonical SPDI
NC_000003.12:10142006:A:T
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
Likely pathogenic 1 criteria provided, single submitter Apr 17, 2019 RCV001046725.2
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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
547 1340

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Apr 17, 2019)
criteria provided, single submitter
Method: clinical testing
Von Hippel-Lindau syndrome
Erythrocytosis, familial, 2
Allele origin: germline
Invitae
Accession: SCV001210639.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change affects the initiator methionine of the VHL mRNA at codon 54 (Met54), which is responsible for translation initiation of the VHLp19 functional … (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
Pulmonary arterial hypertension associated with a von Hippel-Lindau gene mutation. Caravita S The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation 2016 PMID: 27578599
Novel Homozygous Mutation of the Internal Translation Initiation Start Site of VHL is Exclusively Associated with Erythrocytosis: Indications for Distinct Functional Roles of von Hippel-Lindau Tumor Suppressor Isoforms. Bartels M Human mutation 2015 PMID: 26224408

Record last updated May 10, 2021