NM_001114753.3(ENG):c.142C>T (p.Gln48Ter) AND Hereditary hemorrhagic telangiectasia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 25, 2019
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:: RCV001206409.9

Allele description [Variation Report for NM_001114753.3(ENG):c.142C>T (p.Gln48Ter)]

NM_001114753.3(ENG):c.142C>T (p.Gln48Ter)

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_001114753.3(ENG):c.142C>T (p.Gln48Ter)

Other names:

p.Gln48*

HGVS:

NC_000009.12:g.127843171G>A
NG_009551.1:g.16598C>T
NM_000118.4:c.142C>T
NM_001114753.3:c.142C>TMANE SELECT
NM_001278138.2:c.-405C>T
NM_001406715.1:c.142C>T
NP_000109.1:p.Gln48Ter
NP_000109.1:p.Gln48Ter
NP_001108225.1:p.Gln48Ter
NP_001108225.1:p.Gln48Ter
NP_001393644.1:p.Gln48Ter
LRG_589t1:c.142C>T
LRG_589t2:c.142C>T
LRG_589:g.16598C>T
LRG_589p1:p.Gln48Ter
LRG_589p2:p.Gln48Ter
NC_000009.11:g.130605450G>A
NM_000118.3:c.142C>T
NM_001114753.2:c.142C>T

Protein change:

Q48*

Links:

dbSNP: rs1831082433

NCBI 1000 Genomes Browser:

rs1831082433

Molecular consequence:

NM_001278138.2:c.-405C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000118.4:c.142C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001114753.3:c.142C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001406715.1:c.142C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Hereditary hemorrhagic telangiectasia (HHT)
Synonyms:: Osler Weber Rendu syndrome; ORW disease; Osler-Rendu-Weber disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0019180; MedGen: C0039445; OMIM: PS187300

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001377717	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jun 25, 2019)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 15879500, 20656886, 22385575, 15517393, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001377717

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jun 25, 2019)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

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 haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Abdalla SA, Letarte M.

J Med Genet. 2006 Feb;43(2):97-110. Epub 2005 May 6. Review.

PubMed [citation]

PMID:: 15879500
PMCID:: PMC2603035

The physiological role of endoglin in the cardiovascular system.

López-Novoa JM, Bernabeu C.

Am J Physiol Heart Circ Physiol. 2010 Oct;299(4):H959-74. doi: 10.1152/ajpheart.01251.2009. Epub 2010 Jul 23. Review.

PubMed [citation]

PMID:: 20656886

See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001377717.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ENG are known to be pathogenic (PMID: 15879500, 20656886, 22385575). This variant has been observed in an individual affected with hereditary hemorrhagic telangiectasia (PMID: 15517393). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln48*) in the ENG gene. It is expected to result in an absent or disrupted protein product.

#	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: Nov 24, 2024

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