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NM_000118.3(ENG):c.1306C>T (p.Gln436Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 18, 2020
Accession:
VCV000439662.4
Variation ID:
439662
Description:
single nucleotide variant
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NM_000118.3(ENG):c.1306C>T (p.Gln436Ter)

Allele ID
433055
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127819627 (GRCh38) GRCh38 UCSC
9: 130581906 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.130581906G>A
NC_000009.12:g.127819627G>A
NM_001114753.2:c.1306C>T NP_001108225.1:p.Gln436Ter nonsense
... more HGVS
Protein change
Q436*, Q254*
Other names
-
Canonical SPDI
NC_000009.12:127819626:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA374977979
dbSNP: rs1554809450
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 May 23, 2017 RCV000506337.1
Pathogenic 2 criteria provided, single submitter Jan 1, 2018 RCV000512687.2
Pathogenic 1 criteria provided, single submitter Jun 18, 2020 RCV001212134.2
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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
589 879
LOC102723566 - - - GRCh38 - 266

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 23, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000603478.2
Submitted: (Oct 10, 2018)
Evidence details
Comment:
The ENG c.1306C>T, p.Gln436Ter variant has been reported in a patient diagnosed with hereditary hemorrhagic telangiectasia (Lenato 2006). It is not listed in the dbSNP … (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: SCV001439484.1
Submitted: (May 21, 2020)
Evidence details
Publications
PubMed (1)
Comment:
PVS1+PM2+PP4
Pathogenic
(Jun 18, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV001383710.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change creates a premature translational stop signal (p.Gln436*) in the ENG gene. It is expected to result in an absent or disrupted protein … (more)
Likely pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: somatic
Genetics,Medical University of Vienna
Accession: SCV000346039.1
Submitted: (Nov 29, 2016)
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
Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort. Koenighofer M Clinical and experimental otorhinolaryngology 2019 PMID: 31220907
A novel ENG mutation causing impaired co-translational processing of endoglin associated with hereditary hemorrhagic telangiectasia. Suzuki A Thrombosis research 2012 PMID: 22385575
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
The physiological role of endoglin in the cardiovascular system. López-Novoa JM American journal of physiology. Heart and circulatory physiology 2010 PMID: 20656886
DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population. Lenato GM Human mutation 2006 PMID: 16429404
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. Abdalla SA Journal of medical genetics 2006 PMID: 15879500

Text-mined citations for rs1554809450...

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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 May 10, 2021