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NM_000118.3(ENG):c.1080_1083del (p.Thr361fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: May 26, 2021)
Last evaluated:
Jun 24, 2020
Accession:
VCV000213214.4
Variation ID:
213214
Description:
4bp deletion
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NM_000118.3(ENG):c.1080_1083del (p.Thr361fs)

Allele ID
209952
Variant type
Deletion
Variant length
4 bp
Cytogenetic location
9q34.11
Genomic location
9: 127824355-127824358 (GRCh38) GRCh38 UCSC
9: 130586634-130586637 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.130586636_130586639del
NC_000009.12:g.127824357_127824360del
NM_000118.3:c.1080_1083del NP_000109.1:p.Thr361fs frameshift
... more HGVS
Protein change
T361fs, T179fs
Other names
-
Canonical SPDI
NC_000009.12:127824354:TGTCTG:TG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA324999
dbSNP: rs863223540
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 Jun 24, 2020 RCV000200429.4
Pathogenic 2 criteria provided, multiple submitters, no conflicts Jan 1, 2018 RCV000234034.3
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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
590 883

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Apr 08, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV000283521.2
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change deletes 4 nucleotide from exon 8 of the ENG mRNA (c.1080_1083delGACA), causing a frameshift at codon 361. This creates a premature translational … (more)
Pathogenic
(Jul 24, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000250087.12
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.1080_1083delGACA pathogenic variant in the ENG gene, also reported as c.1078_1081delGACA due to alternate nomenclature, has been identified previously in multiple members of a … (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: SCV001439428.1
Submitted: (May 21, 2020)
Evidence details
Publications
PubMed (1)
Comment:
PVS1+PM2+PP4
Pathogenic
(Jun 24, 2020)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001713507.1
Submitted: (May 26, 2021)
Evidence details
Publications
PubMed (7)
Comment:
PVS1, PS4, PP1_Strong, PM2, PP4

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
Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1. Snellings DA American journal of human genetics 2019 PMID: 31630786
Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations. Nishida T American journal of medical genetics. Part A 2012 PMID: 22991266
Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies. Olivieri C Journal of human genetics 2007 PMID: 17786384
Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype. Bossler AD Human mutation 2006 PMID: 16752392
Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations. Wehner LE Clinical genetics 2006 PMID: 16542389
Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations. Kuehl HK Human mutation 2005 PMID: 15712270
Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles. Gallione CJ Human mutation 1998 PMID: 9554745

Text-mined citations for rs863223540...

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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 Jun 14, 2021