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NM_000020.3(ACVRL1):c.1246+5G>A AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 16, 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:
RCV002393671.2

Allele description [Variation Report for NM_000020.3(ACVRL1):c.1246+5G>A]

NM_000020.3(ACVRL1):c.1246+5G>A

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.1246+5G>A
HGVS:
  • NC_000012.12:g.51916238G>A
  • NG_009549.1:g.13821G>A
  • NM_000020.3:c.1246+5G>AMANE SELECT
  • NM_001077401.2:c.1246+5G>A
  • LRG_543t1:c.1246+5G>A
  • LRG_543:g.13821G>A
  • NC_000012.11:g.52310022G>A
  • NM_000020.2:c.1246+5G>A
Links:
dbSNP: rs1940838881
NCBI 1000 Genomes Browser:
rs1940838881
Molecular consequence:
  • NM_000020.3:c.1246+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001077401.2:c.1246+5G>A - intron variant - [Sequence Ontology: SO:0001627]

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
SCV002674070Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 16, 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

Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia.

Shovlin CL, Simeoni I, Downes K, Frazer ZC, Megy K, Bernabeu-Herrero ME, Shurr A, Brimley J, Patel D, Kell L, Stephens J, Turbin IG, Aldred MA, Penkett CJ, Ouwehand WH, Jovine L, Turro E.

Blood. 2020 Oct 22;136(17):1907-1918. doi: 10.1182/blood.2019004560.

PubMed [citation]
PMID:
32573726
PMCID:
PMC7717479

Details of each submission

From Ambry Genetics, SCV002674070.2

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

Description

The c.1246+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 7 in the ACVRL1 gene. This variant was reported in a hereditary hemorrhagic telangiectasia (HHT) cohort with limited details provided (Shovlin CL et al. Blood, 2020 10;136:1907-1918). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024