NM_000118.3(ENG):c.166C>T (p.Gln56Ter) AND Hereditary hemorrhagic telangiectasia

Clinical significance:Pathogenic (Last evaluated: Aug 15, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000817651.1

Allele description [Variation Report for NM_000118.3(ENG):c.166C>T (p.Gln56Ter)]

NM_000118.3(ENG):c.166C>T (p.Gln56Ter)

Gene:
ENG:endoglin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_000118.3(ENG):c.166C>T (p.Gln56Ter)
HGVS:
  • NC_000009.12:g.127843147G>A
  • NG_009551.1:g.16622C>T
  • NM_000118.3:c.166C>T
  • NM_001114753.2:c.166C>T
  • NM_001278138.1:c.-381C>T
  • NP_000109.1:p.Gln56Ter
  • NP_001108225.1:p.Gln56Ter
  • LRG_589t1:c.166C>T
  • LRG_589t2:c.166C>T
  • LRG_589:g.16622C>T
  • LRG_589p1:p.Gln56Ter
  • LRG_589p2:p.Gln56Ter
  • NC_000009.11:g.130605426G>A
Protein change:
Q56*
Links:
dbSNP: rs1588596879
NCBI 1000 Genomes Browser:
rs1588596879
Molecular consequence:
  • NM_001278138.1:c.-381C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000118.3:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001114753.2:c.166C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000958228Invitaecriteria provided, single submitter
Pathogenic
(Aug 15, 2018)
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

Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia.

Argyriou L, Twelkemeyer S, Panchulidze I, Wehner LE, Teske U, Engel W, Nayernia K.

Int J Mol Med. 2006 Apr;17(4):655-9.

PubMed [citation]
PMID:
16525724
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV000958228.1

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

Description

This sequence change creates a premature translational stop signal (p.Gln56*) 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 observed in several individuals affected with hereditary hemorrhagic telangiectasia (PMID: 16752392, 16525724). 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.

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

Last Updated: Oct 7, 2021

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