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NM_000118.3(ENG):c.1672G>A (p.Gly558Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 24, 2020
Accession:
VCV000237023.3
Variation ID:
237023
Description:
single nucleotide variant
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NM_000118.3(ENG):c.1672G>A (p.Gly558Arg)

Allele ID
240450
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127818134 (GRCh38) GRCh38 UCSC
9: 130580413 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_589t2:c.1672G>A LRG_589p2:p.Gly558Arg
LRG_589:g.41635G>A
LRG_589t1:c.1672G>A LRG_589p1:p.Gly558Arg
... more HGVS
Protein change
G558R, G376R
Other names
-
Canonical SPDI
NC_000009.12:127818133:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00012
1000 Genomes Project 0.00040
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Exome Aggregation Consortium (ExAC) 0.00013
Links
dbSNP: rs373230507
ClinGen: CA5252706
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 Oct 24, 2020 RCV000229759.3
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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
591 884
LOC102723566 - - - GRCh38 - 269

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 24, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: germline
Invitae
Accession: SCV000283531.4
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces glycine with arginine at codon 558 of the ENG protein (p.Gly558Arg). The glycine residue is weakly conserved and there is a … (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 rs373230507...

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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