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NM_001114753.3(ENG):c.534_536del (p.Leu179del)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Aug 28, 2018
Accession:
VCV000653938.1
Variation ID:
653938
Description:
3bp deletion
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NM_001114753.3(ENG):c.534_536del (p.Leu179del)

Allele ID
637704
Variant type
Deletion
Variant length
3 bp
Cytogenetic location
9q34.11
Genomic location
9: 127825848-127825850 (GRCh38) GRCh38 UCSC
9: 130588127-130588129 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000118.3:c.534_536delACT
LRG_589:g.33919_33921del
LRG_589t1:c.534_536del LRG_589p1:p.Leu179del
... more HGVS
Protein change
L179del
Other names
-
Canonical SPDI
NC_000009.12:127825847:AGT:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs1285249384
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 28, 2018 RCV000809799.1
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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
Uncertain significance
(Aug 28, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV000949974.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This variant, c.534_536delACT, results in the deletion of 1 amino acid of the ENG protein (p.Leu179del), but otherwise preserves the integrity of the reading frame. … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1285249384...

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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 24, 2021