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NM_001114753.3(ENG):c.1586G>A (p.Arg529His) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 30, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002399723.4

Allele description [Variation Report for NM_001114753.3(ENG):c.1586G>A (p.Arg529His)]

NM_001114753.3(ENG):c.1586G>A (p.Arg529His)

Genes:
ENG:endoglin [Gene - OMIM - HGNC]
LOC102723566:uncharacterized LOC102723566 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001114753.3(ENG):c.1586G>A (p.Arg529His)
Other names:
p.R529H:CGC>CAC; NM_001114753.3(ENG):c.1586G>A
HGVS:
  • NC_000009.12:g.127818220C>T
  • NG_009551.1:g.41549G>A
  • NM_000118.4:c.1586G>A
  • NM_001114753.3:c.1586G>AMANE SELECT
  • NM_001278138.2:c.1040G>A
  • NP_000109.1:p.Arg529His
  • NP_000109.1:p.Arg529His
  • NP_001108225.1:p.Arg529His
  • NP_001108225.1:p.Arg529His
  • NP_001265067.1:p.Arg347His
  • LRG_589t1:c.1586G>A
  • LRG_589t2:c.1586G>A
  • LRG_589:g.41549G>A
  • LRG_589p1:p.Arg529His
  • LRG_589p2:p.Arg529His
  • NC_000009.11:g.130580499C>T
  • NM_000118.2:c.1586G>A
  • NM_000118.3:c.1586G>A
  • NM_001114753.1:c.1586G>A
  • NM_001114753.2:c.1586G>A
  • P17813:p.Arg529His
  • p.(Arg529His)
Protein change:
R347H
Links:
UniProtKB: P17813#VAR_070299; dbSNP: rs863223538
NCBI 1000 Genomes Browser:
rs863223538
Molecular consequence:
  • NM_000118.4:c.1586G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114753.3:c.1586G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278138.2:c.1040G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002708330Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jul 30, 2024) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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, Richards J, George C, Godmilow L, Ganguly A.

Hum Mutat. 2006 Jul;27(7):667-75.

PubMed [citation]
PMID:
16752392

Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model.

Bayrak-Toydemir P, McDonald J, Mao R, Phansalkar A, Gedge F, Robles J, Goldgar D, Lyon E.

Exp Mol Pathol. 2008 Aug;85(1):45-9. doi: 10.1016/j.yexmp.2008.03.006. Epub 2008 Apr 8.

PubMed [citation]
PMID:
18495117

Details of each submission

From Ambry Genetics, SCV002708330.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.R529H pathogenic mutation (also known as c.1586G>A), located in coding exon 12 of the ENG gene, results from a G to A substitution at nucleotide position 1586. The arginine at codon 529 is replaced by histidine, an amino acid with highly similar properties. This mutation has been observed in multiple individuals with a clinical diagnosis of hereditary hemorrhagic telangiectasia, including four affected individuals in one family (Bossler AD et al. Hum. Mutat., 2006 Jul;27:667-75; Bayrak-Toydemir P et al. Exp. Mol. Pathol., 2008 Aug;85:45-9). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the supporting evidence, this variant is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 13, 2025