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NM_000551.3(VHL):c.556G>T (p.Glu186Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Jan 20, 2017
Accession:
VCV000381602.2
Variation ID:
381602
Description:
single nucleotide variant
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NM_000551.3(VHL):c.556G>T (p.Glu186Ter)

Allele ID
367134
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p25.3
Genomic location
3: 10149879 (GRCh38) GRCh38 UCSC
3: 10191563 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.10191563G>T
NC_000003.12:g.10149879G>T
NM_000551.3:c.556G>T NP_000542.1:p.Glu186Ter nonsense
... more HGVS
Protein change
E186*, E145*
Other names
-
Canonical SPDI
NC_000003.12:10149878:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16604432
dbSNP: rs367545984
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 Jan 20, 2017 RCV000432980.1
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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
(Jan 20, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000521050.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The E186X variant in the VHL gene has been previously reported in association with von Hippel-Lindau disease (Chen et al., 1995; Stolle et al., 1998). … (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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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 rs367545984...

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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 Feb 27, 2021