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NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 29, 2022
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:
RCV002424898.2

Allele description [Variation Report for NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter)]

NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter)

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.270C>A (p.Cys90Ter)
HGVS:
  • NC_000012.12:g.51913307C>A
  • NG_009549.1:g.10890C>A
  • NM_000020.3:c.270C>AMANE SELECT
  • NM_001077401.2:c.270C>A
  • NP_000011.2:p.Cys90Ter
  • NP_000011.2:p.Cys90Ter
  • NP_001070869.1:p.Cys90Ter
  • LRG_543t1:c.270C>A
  • LRG_543:g.10890C>A
  • LRG_543p1:p.Cys90Ter
  • NC_000012.11:g.52307091C>A
  • NM_000020.2:c.270C>A
Protein change:
C90*
Links:
dbSNP: rs556168617
NCBI 1000 Genomes Browser:
rs556168617
Molecular consequence:
  • NM_000020.3:c.270C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001077401.2:c.270C>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002740976Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Apr 29, 2022) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.

McDonald J, Damjanovich K, Millson A, Wooderchak W, Chibuk JM, Stevenson DA, Gedge F, Bayrak-Toydemir P.

Clin Genet. 2011 Apr;79(4):335-44. doi: 10.1111/j.1399-0004.2010.01596.x. Epub 2010 Dec 16.

PubMed [citation]
PMID:
21158752

Details of each submission

From Ambry Genetics, SCV002740976.2

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

Description

The p.C90* pathogenic mutation (also known as c.270C>A), located in coding exon 2 of the ACVRL1 gene, results from a C to A substitution at nucleotide position 270. This changes the amino acid from a cysteine to a stop codon within coding exon 2. This mutation has been detected individuals with a clinical diagnosis of hereditary hemorrhagic telangiectasia (HHT) or features consistent with HHT (McDonald J et al. Clin Genet. 2011 Apr;79(4):335-44). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, 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: Sep 29, 2024