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NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 5, 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:
RCV002393222.2

Allele description [Variation Report for NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)]

NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)

Genes:
ENG:endoglin [Gene - OMIM - HGNC]
LOC102723566:uncharacterized LOC102723566 [Gene]
Variant type:
Deletion
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)
HGVS:
  • NC_000009.12:g.127818333_127818336del
  • NG_009551.1:g.41435_41438del
  • NM_000118.4:c.1470_1473delAGAC
  • NM_001114753.3:c.1472_1475delMANE SELECT
  • NM_001278138.2:c.926_929del
  • NP_000109.1:p.Asp491Alafs
  • NP_000109.1:p.Asp491fs
  • NP_001108225.1:p.Asp491Alafs
  • NP_001108225.1:p.Asp491fs
  • NP_001265067.1:p.Asp309fs
  • LRG_589t1:c.1472_1475del
  • LRG_589t2:c.1470_1473del
  • LRG_589:g.41435_41438del
  • LRG_589p1:p.Asp491fs
  • LRG_589p2:p.Asp491Alafs
  • NC_000009.11:g.130580610_130580613del
  • NC_000009.11:g.130580612_130580615del
  • NM_000118.3:c.1472_1475del
  • NM_000118.3:c.1472_1475delACAG
  • NM_001114753.1:c.1472_1475delACAG
  • NM_001114753.2:c.1470_1473delAGAC
  • NM_001114753.2:c.1472_1475del
  • NR_136302.1:n.1400_1403del
Protein change:
D309fs
Links:
dbSNP: rs1830384910
NCBI 1000 Genomes Browser:
rs1830384910
Molecular consequence:
  • NM_000118.4:c.1470_1473delAGAC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001114753.3:c.1472_1475del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001278138.2:c.926_929del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_136302.1:n.1400_1403del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV002697523Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Pathogenic
(Mar 5, 2018)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Directional next-generation RNA sequencing and examination of premature termination codon mutations in endoglin/hereditary haemorrhagic telangiectasia.

Govani FS, Giess A, Mollet IG, Begbie ME, Jones MD, Game L, Shovlin CL.

Mol Syndromol. 2013 Apr;4(4):184-96. doi: 10.1159/000350208. Epub 2013 Apr 11.

PubMed [citation]
PMID:
23801935
PMCID:
PMC3666459

Details of each submission

From Ambry Genetics, SCV002697523.2

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

Description

The c.1472_1475delACAG pathogenic mutation, located in coding exon 12 of the ENG gene, results from a deletion of 4 nucleotides at nucleotide positions 1472 to 1475, causing a translational frameshift with a predicted alternate stop codon (p.D491Afs*26). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: May 1, 2024