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NM_001114753.3(ENG):c.1687G>T (p.Glu563Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
May 20, 2020
Accession:
VCV001076795.1
Variation ID:
1076795
Description:
single nucleotide variant
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NM_001114753.3(ENG):c.1687G>T (p.Glu563Ter)

Allele ID
1061548
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127817203 (GRCh38) GRCh38 UCSC
9: 130579482 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.130579482C>A
NC_000009.12:g.127817203C>A
NG_009551.1:g.42566G>T
... more HGVS
Protein change
E381*, E563*
Other names
-
Canonical SPDI
NC_000009.12:127817202:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 20, 2020 RCV001390809.1
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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
604 902
LOC102723566 - - - GRCh38 - 274

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(May 20, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001592657.1
Submitted: (Jan 07, 2021)
Publications:
PubMed (2)
PubMed: 2115875215879500
Comment:
This sequence change creates a premature translational stop signal (p.Glu563*) in the ENG gene. It is expected to result in an absent or disrupted protein … (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
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
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease. Abdalla SA Journal of medical genetics 2006 PMID: 15879500

Record last updated Jan 08, 2022