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NM_001114753.3(ENG):c.159C>A (p.Cys53Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 28, 2020
Accession:
VCV000946806.4
Variation ID:
946806
Description:
single nucleotide variant
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NM_001114753.3(ENG):c.159C>A (p.Cys53Ter)

Allele ID
925383
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127843154 (GRCh38) GRCh38 UCSC
9: 130605433 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.130605433G>T
NC_000009.12:g.127843154G>T
NG_009551.1:g.16615C>A
... more HGVS
Protein change
C53*
Other names
-
Canonical SPDI
NC_000009.12:127843153:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Aug 28, 2020 RCV001262055.2
Pathogenic 1 criteria provided, single submitter Jan 28, 2020 RCV001217745.2
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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
591 884

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
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: SCV001439435.1
Submitted: (May 21, 2020)
Evidence details
Publications
PubMed (1)
Comment:
PVS1+PM2+PP4
Pathogenic
(Aug 28, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia type 1
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001472748.1
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The ENG c.159C>A; p.Cys53Ter variant is reported in the literature in an individual affected with hereditary hemorrhagic telangiectasia (Letteboer 2005). This variant is absent from … (more)
Pathogenic
(Jan 28, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV001389597.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change creates a premature translational stop signal (p.Cys53*) in the ENG gene. It is expected to result in an absent or disrupted protein … (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
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia. Shovlin CL Blood 2020 PMID: 32573726
A novel ENG mutation causing impaired co-translational processing of endoglin associated with hereditary hemorrhagic telangiectasia. Suzuki A Thrombosis research 2012 PMID: 22385575
The physiological role of endoglin in the cardiovascular system. López-Novoa JM American journal of physiology. Heart and circulatory physiology 2010 PMID: 20656886
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. Abdalla SA Journal of medical genetics 2006 PMID: 15879500
Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients. Letteboer TG Human genetics 2005 PMID: 15517393

Record last updated Oct 08, 2021