NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1]) AND Hereditary hemorrhagic telangiectasia type 1

Clinical significance:Uncertain significance (Last evaluated: Apr 25, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001001196.1

Allele description [Variation Report for NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1])]

NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1])

Gene:
ENG:endoglin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1])
HGVS:
  • NC_000009.11:g.130587617_130587622del
  • NC_000009.12:g.127825340ACCGTC[1]
  • NC_000009.12:g.127825340_127825345ACCGTC[1]
  • NG_009551.1:g.34420CGGTGA[1]
  • NM_000118.3:c.698CGGTGA[1]
  • NM_001114753.3:c.698CGGTGA[1]MANE SELECT
  • NM_001278138.2:c.152CGGTGA[1]
  • NP_000109.1:p.233TV[1]
  • NP_001108225.1:p.233TV[1]
  • NP_001265067.1:p.51TV[1]
  • LRG_589t1:c.698CGGTGA[1]
  • LRG_589:g.34420CGGTGA[1]
  • LRG_589p1:p.233TV[1]
  • NC_000009.11:g.130587617_130587622del
  • NC_000009.11:g.130587619ACCGTC[1]
  • NC_000009.11:g.130587625_130587630delACCGTC
  • NM_000118.3:c.704_709del
Links:
dbSNP: rs1588582060
NCBI 1000 Genomes Browser:
rs1588582060
Molecular consequence:
  • NM_000118.3:c.698CGGTGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001114753.3:c.698CGGTGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001278138.2:c.152CGGTGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Hereditary hemorrhagic telangiectasia type 1 (HHT1)
Synonyms:
Osler Weber Rendu syndrome type 1
Identifiers:
MONDO: MONDO:0008535; MedGen: C4551861; Orphanet: 774; OMIM: 187300

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001158356ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Apr 25, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001158356.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The ENG c.704_709delCGGTGA; p.Thr235_Val236del variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant deletes a threonine and valine residue leaving the rest of the protein in-frame. A different in-frame deletion of the valine 236 codon (c.706_708delGTG; p.Val236del) is reported in the literature in an individual with HHT (Brakensiek 2008). However, due to limited information, the clinical significance of the p.Thr235_Val236del variant is uncertain at this time. REFERENCES Brakensiek K et al. Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia. Clin Genet. 2008 Aug;74(2):171-7.

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

Last Updated: Oct 8, 2021

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