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NM_000020.3(ACVRL1):c.102C>A (p.Cys34Ter) AND Telangiectasia, hereditary hemorrhagic, type 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 27, 2023
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:
RCV001221492.6

Allele description [Variation Report for NM_000020.3(ACVRL1):c.102C>A (p.Cys34Ter)]

NM_000020.3(ACVRL1):c.102C>A (p.Cys34Ter)

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.102C>A (p.Cys34Ter)
HGVS:
  • NC_000012.12:g.51913139C>A
  • NG_009549.1:g.10722C>A
  • NM_000020.3:c.102C>AMANE SELECT
  • NM_001077401.2:c.102C>A
  • NP_000011.2:p.Cys34Ter
  • NP_001070869.1:p.Cys34Ter
  • LRG_543t1:c.102C>A
  • LRG_543:g.10722C>A
  • NC_000012.11:g.52306923C>A
  • NM_000020.2:c.102C>A
Protein change:
C34*
Links:
dbSNP: rs1226848374
NCBI 1000 Genomes Browser:
rs1226848374
Molecular consequence:
  • NM_000020.3:c.102C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001077401.2:c.102C>A - nonsense - [Sequence Ontology: SO:0001587]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001393540Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Mar 27, 2023) 		germlineclinical testing

PubMed (3)
[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

Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.

Lesca G, Burnichon N, Raux G, Tosi M, Pinson S, Marion MJ, Babin E, Gilbert-Dussardier B, Rivière S, Goizet C, Faivre L, Plauchu H, Frébourg T, Calender A, Giraud S; French Rendu-Osler Network..

Hum Mutat. 2006 Jun;27(6):598.

PubMed [citation]
PMID:
16705692

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 (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001393540.5

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

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 949903). This premature translational stop signal has been observed in individual(s) with hereditary hemorrhagic telangiectasia (PMID: 16705692). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys34*) in the ACVRL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACVRL1 are known to be pathogenic (PMID: 15879500).

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

Last Updated: Sep 29, 2024