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NM_000118.3(ENG):c.-8_8del (p.Met1fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Oct 17, 2018
Accession:
VCV000657994.1
Variation ID:
657994
Description:
16bp deletion
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NM_000118.3(ENG):c.-8_8del (p.Met1fs)

Allele ID
637714
Variant type
Deletion
Variant length
16 bp
Cytogenetic location
9q34.11
Genomic location
9: 127854348-127854363 (GRCh38) GRCh38 UCSC
9: 130616627-130616642 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_589t2:c.-8_8del LRG_589p2:p.Met1fs
LRG_589:g.5406_5421del
NC_000009.11:g.130616629_130616644del
... more HGVS
Protein change
M1fs
Other names
-
Canonical SPDI
NC_000009.12:127854347:CGGTCCATGCTGTCCACG:CG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1588604603
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Oct 17, 2018 RCV000814719.1
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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
591 884

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Oct 17, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV000955141.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change affects the initiator methionine of the ENG mRNA. The next in-frame methionine is located at codon 183. This variant is not present … (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
DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population. Lenato GM Human mutation 2006 PMID: 16429404
Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients. Letteboer TG Human genetics 2005 PMID: 15517393
Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. Berg J Journal of medical genetics 2003 PMID: 12920067

Text-mined citations for rs1588604603...

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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