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NM_000118.3(ENG):c.166C>T (p.Gln56Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: May 21, 2020)
Last evaluated:
Aug 15, 2018
Accession:
VCV000660455.2
Variation ID:
660455
Description:
single nucleotide variant
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NM_000118.3(ENG):c.166C>T (p.Gln56Ter)

Allele ID
637713
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127843147 (GRCh38) GRCh38 UCSC
9: 130605426 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_589t1:c.166C>T LRG_589p1:p.Gln56Ter
NC_000009.11:g.130605426G>A
NC_000009.12:g.127843147G>A
... more HGVS
Protein change
Q56*
Other names
-
Canonical SPDI
NC_000009.12:127843146:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1588596879
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 Aug 15, 2018 RCV000817651.1
Pathogenic 1 criteria provided, single submitter Jan 1, 2018 RCV001262058.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ENG Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
590 883

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 15, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV000958228.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Gln56*) in the ENG gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Jan 01, 2018)
criteria provided, single submitter
Method: research
Hereditary hemorrhagic telangiectasia type 1
Allele origin: unknown
NIHR Bioresource Rare Diseases, University of Cambridge
Accession: SCV001439438.1
Submitted: (May 21, 2020)
Evidence details
Publications
PubMed (1)
Comment:
PVS1+PM2+PP4

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
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia. Shovlin CL Blood 2020 PMID: 32573726
Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype. Bossler AD Human mutation 2006 PMID: 16752392
Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia. Argyriou L International journal of molecular medicine 2006 PMID: 16525724

Text-mined citations for rs1588596879...

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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 08, 2021