NM_000020.3(ACVRL1):c.773-3C>G AND Telangiectasia, hereditary hemorrhagic, type 2

Clinical significance:Likely pathogenic (Last evaluated: Dec 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001000915.1

Allele description [Variation Report for NM_000020.3(ACVRL1):c.773-3C>G]

NM_000020.3(ACVRL1):c.773-3C>G

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.773-3C>G
HGVS:
  • NC_000012.12:g.51915222C>G
  • NG_009549.1:g.12805C>G
  • NM_000020.3:c.773-3C>GMANE SELECT
  • NM_001077401.2:c.773-3C>G
  • LRG_543:g.12805C>G
  • NC_000012.11:g.52309006C>G
Links:
dbSNP: rs1592223964
NCBI 1000 Genomes Browser:
rs1592223964
Molecular consequence:
  • NM_000020.3:c.773-3C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001077401.2:c.773-3C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Telangiectasia, hereditary hemorrhagic, type 2 (HHT2)
Synonyms:
Telangiectasia, hereditary hemorrhagic, type II; Osler Weber Rendu syndrome type 2
Identifiers:
MONDO: MONDO:0010880; MedGen: C1838163; Orphanet: 774; OMIM: 600376

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001158002ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Likely pathogenic
(Dec 1, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001158002.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The ACVRL1 c.773-3C>G variant has been described in at least one individual with hereditary hemorrhagic telangiectasia (HHT; Gedge 2007). It is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This is an intronic variant in a moderately conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing by creating a novel cryptic acceptor splice site that would result in an out of frame protein product if preferentially used over the canonical acceptor splice site. Based on available information, this variant is considered likely pathogenic. REFERENCES Gedge F et al. Clinical and Analytical Sensitivities in Hereditary Hemorrhagic Telangiectasia Testing and a Report of de Novo Mutations. J Mol Diagn. 2007 Apr; 9(2): 258-265.

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

Last Updated: Oct 7, 2021

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