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NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter) AND Telangiectasia, hereditary hemorrhagic, type 1

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jan 1, 2018
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:
RCV001262052.11

Allele description [Variation Report for NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter)]

NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter)

Genes:
ENG:endoglin [Gene - OMIM - HGNC]
LOC102723566:uncharacterized LOC102723566 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter)
HGVS:
  • NC_000009.12:g.127818293C>A
  • NG_009551.1:g.41476G>T
  • NM_000118.4:c.1513G>T
  • NM_001114753.3:c.1513G>TMANE SELECT
  • NM_001278138.2:c.967G>T
  • NP_000109.1:p.Glu505Ter
  • NP_000109.1:p.Glu505Ter
  • NP_001108225.1:p.Glu505Ter
  • NP_001108225.1:p.Glu505Ter
  • NP_001265067.1:p.Glu323Ter
  • LRG_589t1:c.1513G>T
  • LRG_589t2:c.1513G>T
  • LRG_589:g.41476G>T
  • LRG_589p1:p.Glu505Ter
  • LRG_589p2:p.Glu505Ter
  • NC_000009.11:g.130580572C>A
  • NM_000118.3:c.1513G>T
  • NM_001114753.1:c.1513G>T
  • NM_001114753.2:c.1513G>T
Protein change:
E323*
Links:
dbSNP: rs1830383454
NCBI 1000 Genomes Browser:
rs1830383454
Molecular consequence:
  • NM_000118.4:c.1513G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001114753.3:c.1513G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001278138.2:c.967G>T - nonsense - [Sequence Ontology: SO:0001587]

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001439432NIHR Bioresource Rare Diseases, University of Cambridge
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Jan 1, 2018)
unknownresearch

PubMed (2)
[See all records that cite these PMIDs]

SCV004022112deCODE genetics, Amgen
no assertion criteria provided
Likely pathogenic
(Jul 21, 2023)
germlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedresearch
Icelandicgermlineyes1not providednot providednot providednot providedresearch

Citations

PubMed

Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.

Shovlin CL, Simeoni I, Downes K, Frazer ZC, Megy K, Bernabeu-Herrero ME, Shurr A, Brimley J, Patel D, Kell L, Stephens J, Turbin IG, Aldred MA, Penkett CJ, Ouwehand WH, Jovine L, Turro E.

Blood. 2020 Oct 22;136(17):1907-1918. doi: 10.1182/blood.2019004560.

PubMed [citation]
PMID:
32573726
PMCID:
PMC7717479

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV001439432.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (2)

Description

PVS1+PM2+PP4

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

From deCODE genetics, Amgen, SCV004022112.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Icelandic1not providednot providedresearchnot provided

Description

The variant NM_001114753.3:c.1513G>T (chr9:127818293) in ENG was detected in 1 heterozygote out of 58K WGS Icelanders (MAF= 0,001%). This variant has been reported in ClinVar previously as pathogenic. Based on ACMG criteria (PVS1, PM2) this variant classifies as likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 1, 2024