NM_001114753.3(ENG):c.1415_1417delinsGT (p.Gln472fs) AND Telangiectasia, hereditary hemorrhagic, type 1

delete

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 4, 2017
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:: RCV000633146.3

Allele description

NM_001114753.3(ENG):c.1415_1417delinsGT (p.Gln472fs)

Genes:

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

Variant type:

Indel

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_001114753.3(ENG):c.1415_1417delinsGT (p.Gln472fs)

HGVS:

NC_000009.12:g.127818727_127818729delinsAC
NG_009551.1:g.41040_41042delinsGT
NM_000118.4:c.1415_1417delAGAinsGT
NM_001114753.3:c.1415_1417delinsGTMANE SELECT
NM_001278138.2:c.869_871delinsGT
NP_000109.1:p.Gln472Argfs
NP_000109.1:p.Gln472fs
NP_001108225.1:p.Gln472Argfs
NP_001108225.1:p.Gln472fs
NP_001265067.1:p.Gln290fs
LRG_589t1:c.1415_1417delinsGT
LRG_589t2:c.1415_1417delAGAinsGT
LRG_589:g.41040_41042delinsGT
LRG_589p1:p.Gln472fs
LRG_589p2:p.Gln472Argfs
NC_000009.11:g.130581006_130581008delinsAC
NM_000118.3:c.1415_1417delinsGT
NM_001114753.2:c.1415_1417delAGAinsGT

Protein change:

Q290fs

Links:

dbSNP: rs1554809331

NCBI 1000 Genomes Browser:

rs1554809331

Molecular consequence:

NM_000118.4:c.1415_1417delAGAinsGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001114753.3:c.1415_1417delinsGT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278138.2:c.869_871delinsGT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Telangiectasia, hereditary hemorrhagic, type 1
Synonyms:: Osler Weber Rendu syndrome type 1
Identifiers:: MONDO: MONDO:0008535; MedGen: C4551861; Orphanet: 774; OMIM: 187300

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000754360	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Dec 4, 2017)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 15907823, 10625079, 17384219, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000754360

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Dec 4, 2017)

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

Reduced endothelial secretion and plasma levels of transforming growth factor-beta1 in patients with hereditary hemorrhagic telangiectasia type 1.

Letarte M, McDonald ML, Li C, Kathirkamathamby K, Vera S, Pece-Barbara N, Kumar S.

Cardiovasc Res. 2005 Oct 1;68(1):155-64.

PubMed [citation]

PMID:: 15907823

Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin.

Cymerman U, Vera S, Pece-Barbara N, Bourdeau A, White RI Jr, Dunn J, Letarte M.

Pediatr Res. 2000 Jan;47(1):24-35.

PubMed [citation]

PMID:: 10625079

See all PubMed Citations (4)

Details of each submission

From Invitae, SCV000754360.1

#	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.Gln472Argfs*19) 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 been reported in several individuals affected with hereditary hemorrhagic telangiectasia (PMID: 10625079, 15907823, 17384219). 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: Nov 5, 2022

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