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NM_000551.4(VHL):c.496_506del (p.Val166fs)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Sep 28, 2021)
Last evaluated:
Jun 12, 2017
Accession:
VCV000223229.3
Variation ID:
223229
Description:
11bp deletion
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NM_000551.4(VHL):c.496_506del (p.Val166fs)

Allele ID
224959
Variant type
Deletion
Variant length
11 bp
Cytogenetic location
3p25.3
Genomic location
3: 10149818-10149828 (GRCh38) GRCh38 UCSC
3: 10191502-10191512 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_322t1:c.496_506del
NC_000003.11:g.10191503_10191513del
NC_000003.12:g.10149819_10149829del
... more HGVS
Protein change
V166fs, V125fs
Other names
-
Canonical SPDI
NC_000003.12:10149817:TGTCCGGAGCCT:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA357119
dbSNP: rs869025663
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 no assertion criteria provided Jun 12, 2017 RCV000208854.3
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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
Likely 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: SCV000264763.1
Submitted: (Mar 02, 2016)
Evidence details
Likely pathogenic
(Jun 12, 2017)
no assertion criteria provided
Method: clinical testing
Von Hippel-Lindau syndrome
Allele origin: germline
University Health Network Clinical Genomics Labs,University Health Network
Accession: SCV001950140.1
Submitted: (Sep 28, 2021)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs869025663...

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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 Nov 27, 2021