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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 8, 2015
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:
RCV002393674.9

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:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002709808Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Pathogenic
(Apr 8, 2015)
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 Ambry Genetics, SCV002709808.2

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

Description

The p.E505* pathogenic mutation (also known as c.1513G>T) located in coding exon 12 of the ENG gene, results from a G to T substitution at nucleotide position 1513. This changes the amino acid from a glutamic acid to a stop codon within coding exon 12. In one study, this mutation was identified in an Italian patient with a diagnosis of HHT (Lenato et al. Hum Mutat. 2006;27(2):213-4). Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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

Last Updated: May 1, 2024