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NM_000551.4(VHL):c.463G>T (p.Val155Leu)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 30, 2020)
Last evaluated:
Mar 10, 2018
Accession:
VCV000825062.2
Variation ID:
825062
Description:
single nucleotide variant
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NM_000551.4(VHL):c.463G>T (p.Val155Leu)

Allele ID
807493
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p25.3
Genomic location
3: 10146636 (GRCh38) GRCh38 UCSC
3: 10188320 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.10188320G>T
NC_000003.12:g.10146636G>T
NM_000551.4:c.463G>T MANE Select NP_000542.1:p.Val155Leu missense
... more HGVS
Protein change
V155L
Other names
-
Canonical SPDI
NC_000003.12:10146635:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs869025659
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 Mar 10, 2018 RCV001022829.1
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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
Likely pathogenic
(Mar 10, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001184608.2
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (2)
Comment:
The c.463G>T variant (also known as p.V155L), located in coding exon 2 of the VHL gene, results from a G to T substitution at nucleotide … (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 von Hippel-Lindau families with renal lesions. Gallou C Human mutation 2004 PMID: 15300849
Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan. - Human molecular genetics 1995 PMID: 8634692

Text-mined citations for rs869025659...

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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 Jan 09, 2021