NM_001114753.3(ENG):c.996_997dup (p.Arg333fs) AND Hereditary hemorrhagic telangiectasia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 13, 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:: RCV001969846.6

Allele description [Variation Report for NM_001114753.3(ENG):c.996_997dup (p.Arg333fs)]

NM_001114753.3(ENG):c.996_997dup (p.Arg333fs)

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_001114753.3(ENG):c.996_997dup (p.Arg333fs)

HGVS:

NC_000009.12:g.127824441_127824442dup
NG_009551.1:g.35327_35328dup
NM_000118.4:c.996_997dup
NM_001114753.3:c.996_997dupMANE SELECT
NM_001278138.2:c.450_451dup
NM_001406715.1:c.996_997dup
NP_000109.1:p.Arg333Ilefs
NP_000109.1:p.Arg333fs
NP_001108225.1:p.Arg333Ilefs
NP_001108225.1:p.Arg333fs
NP_001265067.1:p.Arg151fs
NP_001393644.1:p.Arg333Ilefs
LRG_589t1:c.996_997dup
LRG_589t2:c.996_997dup
LRG_589:g.35327_35328dup
LRG_589p1:p.Arg333fs
LRG_589p2:p.Arg333Ilefs
NC_000009.11:g.130586719_130586720insTA
NC_000009.11:g.130586720_130586721dup
NM_000118.3:c.996_997dup
NM_001114753.2:c.996_997dup

Protein change:

R151fs

Links:

dbSNP: rs2131886094

NCBI 1000 Genomes Browser:

rs2131886094

Molecular consequence:

NM_000118.4:c.996_997dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001114753.3:c.996_997dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001278138.2:c.450_451dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406715.1:c.996_997dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002226231	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 13, 2021)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 15879500, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002226231

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 13, 2021)

germline

clinical testing

PubMed (2)
[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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002226231.3

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

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with ENG-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg333Ilefs*27) in the ENG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ENG are known to be pathogenic (PMID: 15879500).

#	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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