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NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 16, 2021
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:
RCV002386313.3

Allele description [Variation Report for NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp)]

NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp)

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.1309C>T (p.Arg437Trp)
HGVS:
  • NC_000009.12:g.127819624G>A
  • NG_009551.1:g.40145C>T
  • NM_000118.2:c.1309C>T
  • NM_000118.4:c.1309C>T
  • NM_001114753.3:c.1309C>TMANE SELECT
  • NM_001278138.2:c.763C>T
  • NP_000109.1:p.Arg437Trp
  • NP_000109.1:p.Arg437Trp
  • NP_001108225.1:p.Arg437Trp
  • NP_001108225.1:p.Arg437Trp
  • NP_001265067.1:p.Arg255Trp
  • LRG_589t1:c.1309C>T
  • LRG_589t2:c.1309C>T
  • LRG_589:g.40145C>T
  • LRG_589p1:p.Arg437Trp
  • LRG_589p2:p.Arg437Trp
  • NC_000009.11:g.130581903G>A
  • NM_000118.3:c.1309C>T
  • NM_001114753.1:c.1309C>T
  • NM_001114753.2:c.1309C>T
  • NM_001114753.2:c.1309C>T
  • NM_001114753.3:c.1309C>T
Protein change:
R255W
Links:
dbSNP: rs1434169817
NCBI 1000 Genomes Browser:
rs1434169817
Molecular consequence:
  • NM_000118.4:c.1309C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114753.3:c.1309C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278138.2:c.763C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002694297Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Pathogenic
(Jul 16, 2021)
germlineclinical testing

PubMed (9)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.

Gedge F, McDonald J, Phansalkar A, Chou LS, Calderon F, Mao R, Lyon E, Bayrak-Toydemir P.

J Mol Diagn. 2007 Apr;9(2):258-65.

PubMed [citation]
PMID:
17384219
PMCID:
PMC1867450
See all PubMed Citations (9)

Details of each submission

From Ambry Genetics, SCV002694297.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)

Description

The p.R437W pathogenic mutation (also known as c.1309C>T), located in coding exon 10 of the ENG gene, results from a C to T substitution at nucleotide position 1309. The arginine at codon 437 is replaced by tryptophan, an amino acid with dissimilar properties. This mutation was first described in an individual with epistaxis and telangiectasias (Bossler AD et al. Hum. Mutat., 2006 Jul;27:667-75). In addition, this mutation has been reported in several individuals with a clinical diagnosis of hereditary hemorrhagic telangiectasia (HHT) (Gedge F et al. J Mol Diagn, 2007 Apr;9:258-65; McDonald J et al. Clin Genet, 2011 Apr;79:335-44; Tørring PM et al. Clin. Genet., 2014 Aug;86:123-33; McDonald J et al. Genet Med, 2020 07;22:1201-1205). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Jul 15, 2024