NM_001114753.3(ENG):c.1450_1451del (p.Ser484fs) AND Hereditary hemorrhagic telangiectasia

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 23, 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:: RCV001229717.6

Allele description

NM_001114753.3(ENG):c.1450_1451del (p.Ser484fs)

Genes:

ENG:endoglin [Gene - OMIM - HGNC]
LOC102723566:uncharacterized LOC102723566 [Gene]

Variant type:

Microsatellite

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_001114753.3(ENG):c.1450_1451del (p.Ser484fs)

HGVS:

NC_000009.12:g.127818355GA[1]
NG_009551.1:g.41411TC[1]
NM_000118.4:c.1448_1449TC[1]
NM_001114753.3:c.1450_1451delMANE SELECT
NM_001278138.2:c.904_905del
NP_000109.1:p.Ser484Argfs
NP_000109.1:p.Ser484fs
NP_001108225.1:p.Ser484Argfs
NP_001108225.1:p.Ser484fs
NP_001265067.1:p.Ser302fs
LRG_589t1:c.1450_1451del
LRG_589t2:c.1448_1449TC[1]
LRG_589:g.41411TC[1]
LRG_589p1:p.Ser484fs
LRG_589p2:p.Ser484Argfs
NC_000009.11:g.130580634GA[1]
NC_000009.11:g.130580634_130580635del
NM_000118.3:c.1450_1451del
NM_001114753.2:c.1448_1449TC[1]
NR_136302.1:n.1422GA[1]

Protein change:

S302fs

Links:

dbSNP: rs1830385865

NCBI 1000 Genomes Browser:

rs1830385865

Molecular consequence:

NM_000118.4:c.1448_1449TC[1] - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001114753.3:c.1450_1451del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278138.2:c.904_905del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_136302.1:n.1422GA[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV001402171	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Oct 23, 2019)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 15879500, 20656886, 22385575, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001402171

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Oct 23, 2019)

germline

clinical testing

PubMed (4)
[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 (4)

Details of each submission

From Invitae, SCV001402171.5

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

Description

This sequence change creates a premature translational stop signal (p.Ser484Argfs*16) in the ENG gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ENG-related conditions. Loss-of-function variants in ENG are known to be pathogenic (PMID: 15879500, 20656886, 22385575). For these reasons, this variant has been classified as Pathogenic.

#	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: Feb 20, 2024

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