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NM_000551.4(VHL):c.474_476delinsC (p.Lys159fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 25, 2018)
Last evaluated:
Jun 17, 2016
Accession:
VCV000496066.1
Variation ID:
496066
Description:
3bp indel
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NM_000551.4(VHL):c.474_476delinsC (p.Lys159fs)

Allele ID
486958
Variant type
Indel
Variant length
3 bp
Cytogenetic location
3p25.3
Genomic location
3: 10149797-10149799 (GRCh38) GRCh38 UCSC
3: 10191481-10191483 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_322:g.13163_13165delinsC
NC_000003.11:g.10191481_10191483delinsC
NC_000003.12:g.10149797_10149799delinsC
... more HGVS
Protein change
K118fs, K159fs
Other names
-
Canonical SPDI
NC_000003.12:10149796:GAA:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658683298
dbSNP: rs1553620305
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 17, 2016 RCV000589692.1
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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
Pathogenic
(Jun 17, 2016)
criteria provided, single submitter
Method: clinical testing
Von Hippel-Lindau syndrome
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000697520.1
Submitted: (Jan 25, 2018)
Evidence details
Publications
PubMed (2)

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
Genetic analysis of von Hippel-Lindau disease. Nordstrom-O'Brien M Human mutation 2010 PMID: 20151405
Genotype-phenotype correlations in von Hippel-Lindau disease. Ong KR Human mutation 2007 PMID: 17024664

Text-mined citations for rs1553620305...

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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