U.S. flag

An official website of the United States government

NM_000020.3(ACVRL1):c.313+1G>A AND Telangiectasia, hereditary hemorrhagic, type 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 17, 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:
RCV001956524.4

Allele description [Variation Report for NM_000020.3(ACVRL1):c.313+1G>A]

NM_000020.3(ACVRL1):c.313+1G>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.313+1G>A
HGVS:
  • NC_000012.12:g.51913351G>A
  • NG_009549.1:g.10934G>A
  • NG_125717.1:g.129G>A
  • NM_000020.2:c.313+1G>A
  • NM_000020.3:c.313+1G>AMANE SELECT
  • NM_001077401.2:c.313+1G>A
  • NM_001406487.1:c.313+1G>A
  • NM_001406488.1:c.313+1G>A
  • NM_001406489.1:c.313+1G>A
  • NM_001406490.1:c.313+1G>A
  • NM_001406491.1:c.313+1G>A
  • NM_001406492.1:c.313+1G>A
  • NM_001406493.1:c.313+1G>A
  • NM_001406494.1:c.313+1G>A
  • NM_001406495.1:c.61+816G>A
  • LRG_543t1:c.313+1G>A
  • LRG_543:g.10934G>A
  • NC_000012.11:g.52307135G>A
Links:
dbSNP: rs1555152548
NCBI 1000 Genomes Browser:
rs1555152548
Molecular consequence:
  • NM_001406495.1:c.61+816G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000020.3:c.313+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001077401.2:c.313+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406487.1:c.313+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406488.1:c.313+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406489.1:c.313+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406490.1:c.313+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406491.1:c.313+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406492.1:c.313+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406493.1:c.313+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406494.1:c.313+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002247473Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 17, 2021) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Splicing in action: assessing disease causing sequence changes.

Baralle D, Baralle M.

J Med Genet. 2005 Oct;42(10):737-48. Review.

PubMed [citation]
PMID:
16199547
PMCID:
PMC1735933

Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Abdalla SA, Letarte M.

J Med Genet. 2006 Feb;43(2):97-110. Epub 2005 May 6. Review.

PubMed [citation]
PMID:
15879500
PMCID:
PMC2603035
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002247473.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change affects a donor splice site in intron 3 of the ACVRL1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ACVRL1 are known to be pathogenic (PMID: 15879500). This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of hereditary hemorrhagic telangiectasia (PMID: 25970827; Invitae). It has also been observed to segregate with disease in related individuals. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Oct 13, 2024