NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter) AND Cardiovascular phenotype

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 29, 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:: RCV002392990.2

Allele description [Variation Report for NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter)]

NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter)

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.1465C>T (p.Gln489Ter)

HGVS:

NC_000009.12:g.127818341G>A
NG_009551.1:g.41428C>T
NM_000118.4:c.1465C>T
NM_001114753.3:c.1465C>TMANE SELECT
NM_001278138.2:c.919C>T
NP_000109.1:p.Gln489Ter
NP_000109.1:p.Gln489Ter
NP_001108225.1:p.Gln489Ter
NP_001108225.1:p.Gln489Ter
NP_001265067.1:p.Gln307Ter
LRG_589t1:c.1465C>T
LRG_589t2:c.1465C>T
LRG_589:g.41428C>T
LRG_589p1:p.Gln489Ter
LRG_589p2:p.Gln489Ter
NC_000009.11:g.130580620G>A
NM_000118.2:c.1465C>T
NM_000118.3:c.1465C>T
NM_001114753.1:c.1465C>T
NM_001114753.2:c.1465C>T
NM_001114753.2:c.1465C>T
NR_136302.1:n.1408G>A

Protein change:

Q307*

Links:

dbSNP: rs1057521648

NCBI 1000 Genomes Browser:

rs1057521648

Molecular consequence:

NR_136302.1:n.1408G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000118.4:c.1465C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001114753.3:c.1465C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001278138.2:c.919C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002697458	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jun 29, 2021)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 20414677, 20719417 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002697458

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jun 29, 2021)

germline

clinical testing

PubMed (2)
[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

Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.

Richards-Yutz J, Grant K, Chao EC, Walther SE, Ganguly A.

Hum Genet. 2010 Jul;128(1):61-77. doi: 10.1007/s00439-010-0825-4. Epub 2010 Apr 23.

PubMed [citation]

PMID:: 20414677

A brain abscess following dental extractions in a patient with hereditary hemorrhagic telangiectasia.

Corre P, Perret C, Isidor B, Khonsari RH.

Br J Oral Maxillofac Surg. 2011 Jul;49(5):e9-11. doi: 10.1016/j.bjoms.2010.07.014. Epub 2010 Aug 16.

PubMed [citation]

PMID:: 20719417

Details of each submission

From Ambry Genetics, SCV002697458.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The p.Q489* pathogenic mutation (also known as c.1465C>T), located in coding exon 12 of the ENG gene, results from a C to T substitution at nucleotide position 1465. This changes the amino acid from a glutamine to a stop codon within coding exon 12. This mutation has been reported in individuals with hereditary hemorrhagic telangiectasia (Richards-Yutz J et al. Hum Genet, 2010 Jul;128:61-77; Corre P et al. Br J Oral Maxillofac Surg, 2011 Jul;49:e9-11). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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: May 1, 2024

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