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NM_001114753.3(ENG):c.132_133del (p.Thr45fs) AND Hereditary hemorrhagic telangiectasia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 26, 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:
RCV001859351.8

Allele description [Variation Report for NM_001114753.3(ENG):c.132_133del (p.Thr45fs)]

NM_001114753.3(ENG):c.132_133del (p.Thr45fs)

Gene:
ENG:endoglin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001114753.3(ENG):c.132_133del (p.Thr45fs)
HGVS:
  • NC_000009.12:g.127843181AT[1]
  • NG_009551.1:g.16586TA[1]
  • NM_000118.4:c.129_130AT[1]
  • NM_001114753.3:c.132_133delMANE SELECT
  • NM_001278138.2:c.-417TA[1]
  • NM_001406715.1:c.129_130AT[1]
  • NP_000109.1:p.Thr45Hisfs
  • NP_000109.1:p.Thr45fs
  • NP_001108225.1:p.Thr45Hisfs
  • NP_001108225.1:p.Thr45fs
  • NP_001393644.1:p.Thr45Hisfs
  • LRG_589t1:c.132_133del
  • LRG_589t2:c.129_130AT[1]
  • LRG_589:g.16586TA[1]
  • LRG_589p1:p.Thr45fs
  • LRG_589p2:p.Thr45Hisfs
  • NC_000009.11:g.130605459_130605460del
  • NC_000009.11:g.130605460AT[1]
  • NM_000118.3:c.132_133del
  • NM_001114753.2:c.129_130AT[1]
  • NM_001114753.2:c.132_133delTA
  • p.Thr45Hisfs*2
Protein change:
T45fs
Links:
dbSNP: rs2131918640
NCBI 1000 Genomes Browser:
rs2131918640
Molecular consequence:
  • NM_001278138.2:c.-417TA[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000118.4:c.129_130AT[1] - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001114753.3:c.132_133del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406715.1:c.129_130AT[1] - 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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002246371Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Jan 26, 2021)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia.

Alaa El Din F, Patri S, Thoreau V, Rodriguez-Ballesteros M, Hamade E, Bailly S, Gilbert-Dussardier B, Abou Merhi R, Kitzis A.

PLoS One. 2015;10(7):e0132111. doi: 10.1371/journal.pone.0132111.

PubMed [citation]
PMID:
26176610
PMCID:
PMC4503601

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
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002246371.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with hereditary hemorrhagic telangiectasia (PMID: 26176610). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr45Hisfs*2) 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).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024