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NM_000020.3(ACVRL1):c.540_541insA (p.Asp181fs) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 10, 2021
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:
RCV002350270.2

Allele description [Variation Report for NM_000020.3(ACVRL1):c.540_541insA (p.Asp181fs)]

NM_000020.3(ACVRL1):c.540_541insA (p.Asp181fs)

Gene:
ACVRL1:activin A receptor like type 1 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_000020.3(ACVRL1):c.540_541insA (p.Asp181fs)
Other names:
p.Asp181Argfs*44
HGVS:
  • NC_000012.12:g.51913988_51913989insA
  • NG_009549.1:g.11571_11572insA
  • NM_000020.3:c.540_541insAMANE SELECT
  • NM_001077401.2:c.540_541insA
  • NP_000011.2:p.Asp181fs
  • NP_000011.2:p.Asp181fs
  • NP_001070869.1:p.Asp181fs
  • LRG_543t1:c.540_541insA
  • LRG_543:g.11571_11572insA
  • LRG_543p1:p.Asp181fs
  • NC_000012.11:g.52307772_52307773insA
  • NM_000020.2:c.540_541insA
Protein change:
D181fs
Links:
dbSNP: rs1555152774
NCBI 1000 Genomes Browser:
rs1555152774
Molecular consequence:
  • NM_000020.3:c.540_541insA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001077401.2:c.540_541insA - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002650994Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(May 10, 2021) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations.

Wehner LE, Folz BJ, Argyriou L, Twelkemeyer S, Teske U, Geisthoff UW, Werner JA, Engel W, Nayernia K.

Clin Genet. 2006 Mar;69(3):239-45.

PubMed [citation]
PMID:
16542389

Mutation analysis of "Endoglin" and "Activin receptor-like kinase" genes in German patients with hereditary hemorrhagic telangiectasia and the value of rapid genotyping using an allele-specific PCR-technique.

Sadick H, Hage J, Goessler U, Stern-Straeter J, Riedel F, Hoermann K, Bugert P.

BMC Med Genet. 2009 Jun 9;10:53. doi: 10.1186/1471-2350-10-53.

PubMed [citation]
PMID:
19508727
PMCID:
PMC2701415
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002650994.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The c.540_541insA pathogenic mutation, located in coding exon 4 of the ACVRL1 gene, results from an insertion of one nucleotide at position 540, causing a translational frameshift with a predicted alternate stop codon (p.D181Rfs*44). This mutation was identified in multiple German individuals, including three individuals from one family with epistaxis and telangiectasias (Wehner LE et al. Clin. Genet., 2006 Mar;69:239-45; Sadick H et al. BMC Med. Genet., 2009 Jun;10:53). This mutation was also reported in one individual from an hereditary hemorrhagic telangiectasia (HHT) genetic testing cohort (McDonald J et al. Clin Genet, 2011 Apr;79:335-44). 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: Nov 30, 2024