NM_001114753.3(ENG):c.790G>A (p.Asp264Asn) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 23, 2021
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:: RCV002422874.2

Allele description [Variation Report for NM_001114753.3(ENG):c.790G>A (p.Asp264Asn)]

NM_001114753.3(ENG):c.790G>A (p.Asp264Asn)

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_001114753.3(ENG):c.790G>A (p.Asp264Asn)

HGVS:

NC_000009.12:g.127825257C>T
NG_009551.1:g.34512G>A
NM_000118.4:c.790G>A
NM_001114753.3:c.790G>AMANE SELECT
NM_001278138.2:c.244G>A
NM_001406715.1:c.790G>A
NP_000109.1:p.Asp264Asn
NP_000109.1:p.Asp264Asn
NP_001108225.1:p.Asp264Asn
NP_001108225.1:p.Asp264Asn
NP_001265067.1:p.Asp82Asn
NP_001393644.1:p.Asp264Asn
LRG_589t1:c.790G>A
LRG_589t2:c.790G>A
LRG_589:g.34512G>A
LRG_589p1:p.Asp264Asn
LRG_589p2:p.Asp264Asn
NC_000009.11:g.130587536C>T
NM_000118.3:c.790G>A
NM_001114753.1:c.790G>A
NM_001114753.2:c.790G>A

Protein change:

D264N

Links:

dbSNP: rs1210433339

NCBI 1000 Genomes Browser:

rs1210433339

Molecular consequence:

NM_000118.4:c.790G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001114753.3:c.790G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001278138.2:c.244G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406715.1:c.790G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

Decreased function

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002677268	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 23, 2021)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 15517393, 16429404, 16690726, 22022569 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002677268

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 23, 2021)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.

Letteboer TG, Zewald RA, Kamping EJ, de Haas G, Mager JJ, Snijder RJ, Lindhout D, Hennekam FA, Westermann CJ, Ploos van Amstel JK.

Hum Genet. 2005 Jan;116(1-2):8-16. Epub 2004 Oct 23.

PubMed [citation]

PMID:: 15517393

DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.

Lenato GM, Lastella P, Di Giacomo MC, Resta N, Suppressa P, Pasculli G, Sabbà C, Guanti G.

Hum Mutat. 2006 Feb;27(2):213-4.

PubMed [citation]

PMID:: 16429404

See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV002677268.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

The p.D264N variant (also known as c.790G>A), located in coding exon 6 of the ENG gene, results from a G to A substitution at nucleotide position 790. The aspartic acid at codon 264 is replaced by asparagine, an amino acid with highly similar properties. This variant has been reported in individuals with a clinical diagnosis of hereditary hemorrhagic telangiectasia (Letteboer TG et al. Hum. Genet., 2005 Jan;116:8-16; Prigoda NL et al. J Med Genet, 2006 Sep;43:722-8; Lenato GM et al. Hum. Mutat., 2006 Feb;27:213-4). In a functional study, D264N was predominantly localized to the plasma membrane, similar to wild-type endoglin (Ali BR et al. PLoS ONE, 2011 Oct;6:e26206). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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