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NM_000118.3(ENG):c.220-1G>A

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 7, 2019
Accession:
VCV000439650.3
Variation ID:
439650
Description:
single nucleotide variant
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NM_000118.3(ENG):c.220-1G>A

Allele ID
433529
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127829828 (GRCh38) GRCh38 UCSC
9: 130592107 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_589t1:c.220-1G>A
LRG_589t2:c.220-1G>A
NC_000009.11:g.130592107C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:127829827:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA374986465
dbSNP: rs1554810936
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 Oct 7, 2016 RCV000507915.1
Likely pathogenic 1 criteria provided, single submitter Jun 7, 2019 RCV001217385.1
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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
591 884

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 07, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000603457.1
Submitted: (Jun 30, 2017)
Evidence details
Likely pathogenic
(Jun 07, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV001389221.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change affects an acceptor splice site in intron 2 of the ENG gene. It is expected to disrupt RNA splicing and likely results … (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
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
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547

Text-mined citations for rs1554810936...

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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