U.S. flag

An official website of the United States government

NM_001114753.3(ENG):c.1306C>T (p.Gln436Ter) 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:
RCV000512687.3

Allele description [Variation Report for NM_001114753.3(ENG):c.1306C>T (p.Gln436Ter)]

NM_001114753.3(ENG):c.1306C>T (p.Gln436Ter)

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.1306C>T (p.Gln436Ter)
HGVS:
  • NC_000009.12:g.127819627G>A
  • NG_009551.1:g.40142C>T
  • NM_000118.4:c.1306C>T
  • NM_001114753.3:c.1306C>TMANE SELECT
  • NM_001278138.2:c.760C>T
  • NP_000109.1:p.Gln436Ter
  • NP_000109.1:p.Gln436Ter
  • NP_001108225.1:p.Gln436Ter
  • NP_001108225.1:p.Gln436Ter
  • NP_001265067.1:p.Gln254Ter
  • LRG_589t1:c.1306C>T
  • LRG_589t2:c.1306C>T
  • LRG_589:g.40142C>T
  • LRG_589p1:p.Gln436Ter
  • LRG_589p2:p.Gln436Ter
  • NC_000009.11:g.130581906G>A
  • NM_000118.2:c.1306C>T
  • NM_000118.3:c.1306C>T
  • NM_001114753.1:c.1306C>T
  • NM_001114753.2:c.1306C>T
  • p.Gln436*
Protein change:
Q254*
Links:
dbSNP: rs1554809450
NCBI 1000 Genomes Browser:
rs1554809450
Molecular consequence:
  • NM_000118.4:c.1306C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001114753.3:c.1306C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001278138.2:c.760C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000346039Genetics, Medical University of Vienna
no assertion criteria provided
Likely pathogenicsomaticclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001439484NIHR 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]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyes1not providednot providednot providednot providedclinical testing
not providedunknownyes1not providednot providednot providednot providedresearch

Citations

PubMed

DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population.

Lenato GM, Lastella P, Di Giacomo MC, Resta N, Suppressa P, Pasculli G, SabbĂ  C, Guanti G.

Hum Mutat. 2006 Feb;27(2):213-4.

PubMed [citation]
PMID:
16429404

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
See all PubMed Citations (3)

Details of each submission

From Genetics, Medical University of Vienna, SCV000346039.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot provided1not providednot providednot provided

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV001439484.1

#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

Last Updated: May 1, 2024