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NM_000020.3(ACVRL1):c.643G>A (p.Glu215Lys) AND Cardiovascular phenotype

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 1, 2020
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:
RCV002361130.2

Allele description

NM_000020.3(ACVRL1):c.643G>A (p.Glu215Lys)

Gene:
ACVRL1:activin A receptor like type 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_000020.3(ACVRL1):c.643G>A (p.Glu215Lys)
HGVS:
  • NC_000012.12:g.51914456G>A
  • NG_009549.1:g.12039G>A
  • NM_000020.3:c.643G>AMANE SELECT
  • NM_001077401.2:c.643G>A
  • NP_000011.2:p.Glu215Lys
  • NP_001070869.1:p.Glu215Lys
  • LRG_543t1:c.643G>A
  • LRG_543:g.12039G>A
  • NC_000012.11:g.52308240G>A
  • NM_000020.2:c.643G>A
Protein change:
E215K
Links:
dbSNP: rs754283265
NCBI 1000 Genomes Browser:
rs754283265
Molecular consequence:
  • NM_000020.3:c.643G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001077401.2:c.643G>A - 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
SCV002659607Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(Sep 1, 2020) 		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

Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians.

Bayrak-Toydemir P, Mao R, Lewin S, McDonald J.

Genet Med. 2004 Jul-Aug;6(4):175-91. Review.

PubMed [citation]
PMID:
15266205
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV002659607.2

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

Description

The p.E215K variant (also known as c.643G>A), located in coding exon 5 of the ACVRL1 gene, results from a G to A substitution at nucleotide position 643. The glutamic acid at codon 215 is replaced by lysine, an amino acid with similar properties. This variant has been reported in multiple individuals with definite or possible diagnosis of hereditary hemorrhagic telangiectasia (Lesca G et al. Hum. Mutat., 2004 Apr;23:289-99; Tørring PM et al. Clin. Genet., 2014 Aug;86:123-33). This allele was reported in one heterozygous individual 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 majority of available evidence to date, this variant is likely to be pathogenic.

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

Last Updated: May 1, 2024