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NM_001114753.3(ENG):c.-9G>A

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Oct 4, 2021)
Last evaluated:
Sep 19, 2020
Accession:
VCV000414302.15
Variation ID:
414302
Description:
single nucleotide variant
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NM_001114753.3(ENG):c.-9G>A

Allele ID
396702
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127854364 (GRCh38) GRCh38 UCSC
9: 130616643 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.130616643C>T
LRG_589:g.5405G>A
LRG_589t1:c.-9G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:127854363:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00029
The Genome Aggregation Database (gnomAD) 0.00040
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00062
Exome Aggregation Consortium (ExAC) 0.00078
Trans-Omics for Precision Medicine (TOPMed) 0.00041
Trans-Omics for Precision Medicine (TOPMed) 0.00054
Links
ClinGen: CA5253269
dbSNP: rs368423516
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 3 criteria provided, single submitter Apr 1, 2017 RCV000460114.8
Likely benign 1 criteria provided, single submitter Sep 19, 2020 RCV001085762.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 31, 2018 RCV001000139.3
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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
594 891

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 31, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia type 1
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001156619.1
Submitted: (Aug 05, 2019)
Evidence details
Comment:
The ENG c.-9G>A variant (rs368423516 ) has been described in the literature in families with hereditary hemorrhagic telangiectasia or pulmonary arterial hypertension and has been … (more)
Uncertain significance
(Apr 23, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia type 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001332252.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (5)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Likely benign
(Sep 19, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV000557845.6
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Apr 01, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001155740.7
Submitted: (Jul 04, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001922505.1
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001962855.1
Submitted: (Oct 04, 2021)
Evidence details

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
Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1. Albiñana V BMC medical genetics 2017 PMID: 28231770
Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. McDonald J Frontiers in genetics 2015 PMID: 25674101
5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia. Damjanovich K Orphanet journal of rare diseases 2011 PMID: 22192717
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
Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations. Gedge F The Journal of molecular diagnostics : JMD 2007 PMID: 17384219

Text-mined citations for rs368423516...

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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 Nov 27, 2021