NM_001114753.3(ENG):c.1759C>T (p.Leu587Phe) AND Telangiectasia, hereditary hemorrhagic, type 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 28, 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:: RCV001166476.5

Allele description [Variation Report for NM_001114753.3(ENG):c.1759C>T (p.Leu587Phe)]

NM_001114753.3(ENG):c.1759C>T (p.Leu587Phe)

Gene:

ENG:endoglin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

Preferred name:

NM_001114753.3(ENG):c.1759C>T (p.Leu587Phe)

HGVS:

NC_000009.12:g.127816036G>A
NG_009551.1:g.43733C>T
NG_023245.1:g.18162G>A
NM_000118.4:c.1759C>T
NM_001114753.3:c.1759C>TMANE SELECT
NM_001278138.2:c.1213C>T
NP_000109.1:p.Leu587Phe
NP_000109.1:p.Leu587Phe
NP_001108225.1:p.Leu587Phe
NP_001108225.1:p.Leu587Phe
NP_001265067.1:p.Leu405Phe
LRG_589t1:c.1759C>T
LRG_589t2:c.1759C>T
LRG_589:g.43733C>T
LRG_589p1:p.Leu587Phe
LRG_589p2:p.Leu587Phe
NC_000009.11:g.130578315G>A
NM_000118.3:c.1759C>T
NM_001114753.2:c.1759C>T

Protein change:

L405F

Links:

dbSNP: rs747196026

NCBI 1000 Genomes Browser:

rs747196026

Molecular consequence:

NM_000118.4:c.1759C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001114753.3:c.1759C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001278138.2:c.1213C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Telangiectasia, hereditary hemorrhagic, type 1 (HHT1)
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
SCV001328857	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Apr 28, 2017)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 24921008, 22022569, 25312062, 19299629 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001328857

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Apr 28, 2017)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

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

Endoglin in liver fibrogenesis: Bridging basic science and clinical practice.

Meurer SK, Alsamman M, Scholten D, Weiskirchen R.

World J Biol Chem. 2014 May 26;5(2):180-203. doi: 10.4331/wjbc.v5.i2.180. Review.

PubMed [citation]

PMID:: 24921008
PMCID:: PMC4050112

Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.

Ali BR, Ben-Rebeh I, John A, Akawi NA, Milhem RM, Al-Shehhi NA, Al-Ameri MM, Al-Shamisi SA, Al-Gazali L.

PLoS One. 2011;6(10):e26206. doi: 10.1371/journal.pone.0026206. Epub 2011 Oct 14.

PubMed [citation]

PMID:: 22022569
PMCID:: PMC3194820

See all PubMed Citations (4)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001328857.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#	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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