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NM_000118.3(ENG):c.360+1G>A

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 31, 2020
Accession:
VCV000265370.6
Variation ID:
265370
Description:
single nucleotide variant
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NM_000118.3(ENG):c.360+1G>A

Allele ID
259913
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127829686 (GRCh38) GRCh38 UCSC
9: 130591965 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_589t2:c.360+1G>A
LRG_589:g.30083G>A
NM_000118.3:c.360+1G>A splice donor
... more HGVS
Protein change
-
Other names
IVS3DS, G-A, +1
Canonical SPDI
NC_000009.12:127829685:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10588467
OMIM: 131195.0005
dbSNP: rs886039505
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 31, 2018 RCV000255227.3
Pathogenic 3 criteria provided, multiple submitters, no conflicts Jul 31, 2020 RCV000274164.7
Pathogenic 1 criteria provided, single submitter May 9, 2020 RCV001034674.2
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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 11, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000344395.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(Aug 31, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000322195.6
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.360+1 G>A pathogenic variant in the ENG gene has been reported in multiple unrelated patients with HHT across various ethnic backgrounds (Pece et al., … (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: SCV001441154.1
Submitted: (May 21, 2020)
Evidence details
Publications
PubMed (1)
Comment:
PVS1+PM2+PP4
Pathogenic
(Jul 31, 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: SCV001474418.1
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The ENG c.360+1G>A variant (rs886039505) is reported in the literature in multiple individuals and families with hereditary hemorrhagic telangiectasia (ENG HHT database, Heimdal 2016, Kim … (more)
Pathogenic
(May 09, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV000629569.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (7)
Comment:
This sequence change affects a donor splice site in intron 3 of the ENG gene. It is expected to disrupt RNA splicing and results in … (more)
Pathogenic
(Nov 15, 1997)
no assertion criteria provided
Method: literature only
HEREDITARY HEMORRHAGIC TELANGIECTASIA 1
Allele origin: germline
OMIM
Accession: SCV000038431.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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
Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1. Heimdal K Clinical genetics 2016 PMID: 25970827
Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations. Nishida T American journal of medical genetics. Part A 2012 PMID: 22991266
Clinical and genetic analyses of three Korean families with hereditary hemorrhagic telangiectasia. Kim MJ BMC medical genetics 2011 PMID: 21967607
Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis. McDonald J Clinical genetics 2011 PMID: 21158752
Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique. Sadick H BMC medical genetics 2009 PMID: 19508727
High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients. Schulte C Human mutation 2005 PMID: 15880681
Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative. Pece N The Journal of clinical investigation 1997 PMID: 9366572
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ENG - - - -

Text-mined citations for rs886039505...

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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