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NM_000118.3(ENG):c.1762G>A (p.Val588Ile)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 11, 2020
Accession:
VCV000237024.5
Variation ID:
237024
Description:
single nucleotide variant
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NM_000118.3(ENG):c.1762G>A (p.Val588Ile)

Allele ID
240449
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127816033 (GRCh38) GRCh38 UCSC
9: 130578312 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_589t2:c.1762G>A LRG_589p2:p.Val588Ile
LRG_589t1:c.1762G>A LRG_589p1:p.Val588Ile
LRG_589:g.43736G>A
... more HGVS
Protein change
V588I, V406I
Other names
-
Canonical SPDI
NC_000009.12:127816032:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00015
The Genome Aggregation Database (gnomAD), exomes 0.00022
Exome Aggregation Consortium (ExAC) 0.00044
Links
ClinGen: CA5252632
dbSNP: rs201768056
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 Sep 11, 2020 RCV000233031.5
Uncertain significance 1 criteria provided, single submitter Nov 15, 2016 RCV000414391.1
Likely benign 1 criteria provided, single submitter Jan 12, 2018 RCV001169423.1
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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
(Sep 11, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV000283532.6
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces valine with isoleucine at codon 588 of the ENG protein (p.Val588Ile). The valine residue is moderately conserved and there is a … (more)
Uncertain significance
(Nov 15, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000491731.1
Submitted: (Dec 21, 2016)
Evidence details
Comment:
The V588I variant of uncertain significance in the ENG gene has not been published as a pathogenicor benign variant to our knowledge. However, it is … (more)
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia type 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001332119.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs201768056...

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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