NM_001114753.3(ENG):c.588G>A (p.Trp196Ter) AND Hereditary hemorrhagic telangiectasia type 1

Clinical significance:Pathogenic (Last evaluated: May 1, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001000381.1

Allele description [Variation Report for NM_001114753.3(ENG):c.588G>A (p.Trp196Ter)]

NM_001114753.3(ENG):c.588G>A (p.Trp196Ter)

Gene:
ENG:endoglin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001114753.3(ENG):c.588G>A (p.Trp196Ter)
HGVS:
  • NC_000009.12:g.127825796C>T
  • NG_009551.1:g.33973G>A
  • NM_000118.3:c.588G>A
  • NM_001114753.3:c.588G>AMANE SELECT
  • NM_001278138.2:c.42G>A
  • NP_000109.1:p.Trp196Ter
  • NP_001108225.1:p.Trp196Ter
  • NP_001265067.1:p.Trp14Ter
  • LRG_589t1:c.588G>A
  • LRG_589:g.33973G>A
  • LRG_589p1:p.Trp196Ter
  • NC_000009.11:g.130588075C>T
  • NC_000009.11:g.130588075C>T
Protein change:
W14*
Links:
dbSNP: rs1588582860
NCBI 1000 Genomes Browser:
rs1588582860
Molecular consequence:
  • NM_000118.3:c.588G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001114753.3:c.588G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001278138.2:c.42G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV001157144ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Pathogenic
(May 1, 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, SCV001157144.1

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

Description

The ENG c.588G>A; p.Trp196Ter variant is reported in the literature in three individuals of a family with HHT (Cymerman 2003), and our laboratory has previously identified this variant in an individual with HHT. This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. REFERENCES Cymerman U et al. Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia. Hum Mutat. 2003 May;21(5):482-92.

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

Last Updated: Oct 25, 2021

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