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NM_000118.3(ENG):c.992-2A>G

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 15, 2021)
Last evaluated:
Feb 12, 2021
Accession:
VCV000663310.4
Variation ID:
663310
Description:
single nucleotide variant
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NM_000118.3(ENG):c.992-2A>G

Allele ID
651901
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127824448 (GRCh38) GRCh38 UCSC
9: 130586727 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_589:g.35321A>G
LRG_589t1:c.992-2A>G
NM_000118.3:c.992-2A>G splice acceptor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:127824447:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1588580932
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 28, 2018 RCV000821165.1
Pathogenic 1 criteria provided, single submitter Jan 1, 2018 RCV001263085.1
Pathogenic 1 criteria provided, single submitter Feb 12, 2021 RCV001664441.2
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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
(Aug 28, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV000961912.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change affects an acceptor splice site in intron 7 of the ENG gene. It is expected to disrupt RNA splicing and likely results … (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: SCV001441167.1
Submitted: (May 21, 2020)
Evidence details
Publications
PubMed (1)
Comment:
PVS1+PM2+PP4
Pathogenic
(Feb 12, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001875358.1
Submitted: (Sep 15, 2021)
Evidence details
Comment:
Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); Canonical splice site … (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

Text-mined citations for rs1588580932...

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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