NM_001114753.3(ENG):c.1A>G (p.Met1Val) AND Hereditary hemorrhagic telangiectasia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 2, 2023
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:: RCV002230780.8

Allele description [Variation Report for NM_001114753.3(ENG):c.1A>G (p.Met1Val)]

NM_001114753.3(ENG):c.1A>G (p.Met1Val)

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_001114753.3(ENG):c.1A>G (p.Met1Val)

HGVS:

NC_000009.12:g.127854355T>C
NG_009551.1:g.5414A>G
NM_000118.4:c.1A>G
NM_001114753.3:c.1A>GMANE SELECT
NM_001406715.1:c.1A>G
NP_000109.1:p.Met1Val
NP_000109.1:p.Met1Val
NP_001108225.1:p.Met1Val
NP_001108225.1:p.Met1Val
NP_001393644.1:p.Met1Val
LRG_589t1:c.1A>G
LRG_589t2:c.1A>G
LRG_589:g.5414A>G
LRG_589p1:p.Met1Val
LRG_589p2:p.Met1Val
NC_000009.11:g.130616634T>C
NM_000118.3:c.1A>G
NM_001114753.1:c.1A>G
NM_001114753.2:c.1A>G
p.Met1?

Protein change:

M1V

Links:

dbSNP: rs1060501418

NCBI 1000 Genomes Browser:

rs1060501418

Molecular consequence:

NM_001114753.3:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_000118.4:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001114753.3:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001406715.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000546125	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Aug 2, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 15517393, 16429404, 32573726, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000546125

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Aug 2, 2023)

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 hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.

Letteboer TG, Zewald RA, Kamping EJ, de Haas G, Mager JJ, Snijder RJ, Lindhout D, Hennekam FA, Westermann CJ, Ploos van Amstel JK.

Hum Genet. 2005 Jan;116(1-2):8-16. Epub 2004 Oct 23.

PubMed [citation]

PMID:: 15517393

DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.

Lenato GM, Lastella P, Di Giacomo MC, Resta N, Suppressa P, Pasculli G, Sabbà C, Guanti G.

Hum Mutat. 2006 Feb;27(2):213-4.

PubMed [citation]

PMID:: 16429404

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000546125.5

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

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 407131). Disruption of the initiator codon has been observed in individuals with hereditary haemorrhagic telangiectasia (PMID: 15517393, 16429404, 32573726; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the ENG mRNA. The next in-frame methionine is located at codon 183.

#	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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