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NM_001114753.3(ENG):c.145G>T (p.Val49Phe) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 28, 2023
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:
RCV002388247.2

Allele description [Variation Report for NM_001114753.3(ENG):c.145G>T (p.Val49Phe)]

NM_001114753.3(ENG):c.145G>T (p.Val49Phe)

Gene:
ENG:endoglin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_001114753.3(ENG):c.145G>T (p.Val49Phe)
Other names:
p.Val49Phe
HGVS:
  • NC_000009.12:g.127843168C>A
  • NG_009551.1:g.16601G>T
  • NM_000118.4:c.145G>T
  • NM_001114753.3:c.145G>TMANE SELECT
  • NM_001278138.2:c.-402G>T
  • NM_001406715.1:c.145G>T
  • NP_000109.1:p.Val49Phe
  • NP_000109.1:p.Val49Phe
  • NP_001108225.1:p.Val49Phe
  • NP_001108225.1:p.Val49Phe
  • NP_001393644.1:p.Val49Phe
  • LRG_589t1:c.145G>T
  • LRG_589t2:c.145G>T
  • LRG_589:g.16601G>T
  • LRG_589p1:p.Val49Phe
  • LRG_589p2:p.Val49Phe
  • NC_000009.11:g.130605447C>A
  • NM_000118.2:c.145G>T
  • NM_000118.3:c.145G>T
  • NM_001114753.1:c.145G>T
  • NM_001114753.2:c.145G>T
Protein change:
V49F
Links:
dbSNP: rs1252348200
NCBI 1000 Genomes Browser:
rs1252348200
Molecular consequence:
  • NM_001278138.2:c.-402G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000118.4:c.145G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001114753.3:c.145G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406715.1:c.145G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002699937Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Sep 28, 2023) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.

Lesca G, Plauchu H, Coulet F, Lefebvre S, Plessis G, Odent S, Rivière S, Leheup B, Goizet C, Carette MF, Cordier JF, Pinson S, Soubrier F, Calender A, Giraud S; French Rendu-Osler Network.

Hum Mutat. 2004 Apr;23(4):289-99.

PubMed [citation]
PMID:
15024723

Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies.

Olivieri C, Pagella F, Semino L, Lanzarini L, Valacca C, Pilotto A, Corno S, Scappaticci S, Manfredi G, Buscarini E, Danesino C.

J Hum Genet. 2007;52(10):820-829. doi: 10.1007/s10038-007-0187-5. Epub 2007 Sep 5.

PubMed [citation]
PMID:
17786384
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV002699937.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

The p.V49F pathogenic mutation (also known as c.145G>T), located in coding exon 2 of the ENG gene, results from a G to T substitution at nucleotide position 145. The valine at codon 49 is replaced by phenylalanine, an amino acid with highly similar properties. This mutation has been reported in multiple unrelated individuals with clinical diagnosis of hereditary hemorrhagic telangiectasia (Lesca G et al. Hum. Mutat., 2004 Apr;23:289-99; Olivieri C et al. J. Hum. Genet., 2007 Sep;52:820-9; McDonald J et al. Clin. Genet., 2011 Apr;79:335-44; Nishida T et al. Am. J. Med. Genet. A, 2012 Nov;158A:2829-34). When expressed in cell lines, the V49F mutant protein was retained in endoplasmic reticulum and failed to reach plasma membrane (Ali BR et al. PLoS ONE, 2011 Oct;6:e26206). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. 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: Nov 24, 2024