NM_000020.3(ACVRL1):c.264C>G (p.Tyr88Ter) AND Telangiectasia, hereditary hemorrhagic, type 2

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 23, 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:: RCV003768272.1

Allele description

NM_000020.3(ACVRL1):c.264C>G (p.Tyr88Ter)

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.264C>G (p.Tyr88Ter)

HGVS:

NC_000012.12:g.51913301C>G
NG_009549.1:g.10884C>G
NM_000020.3:c.264C>GMANE SELECT
NM_001077401.2:c.264C>G
NP_000011.2:p.Tyr88Ter
NP_000011.2:p.Tyr88Ter
NP_001070869.1:p.Tyr88Ter
LRG_543t1:c.264C>G
LRG_543:g.10884C>G
LRG_543p1:p.Tyr88Ter
NC_000012.11:g.52307085C>G
NM_000020.2:c.264C>G
p.Tyr88*

Protein change:

Y88*

Links:

dbSNP: rs775754117

NCBI 1000 Genomes Browser:

rs775754117

Molecular consequence:

NM_000020.3:c.264C>G - nonsense - [Sequence Ontology: SO:0001587]
NM_001077401.2:c.264C>G - 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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PPARA peroxisome proliferator activated receptor alpha [Homo sapiens]
PPARA peroxisome proliferator activated receptor alpha [Homo sapiens]
Gene ID:5465

Gene
5465[uid] AND (alive[prop]) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004642561	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jun 23, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 32503579, 15879500, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004642561

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jun 23, 2023)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry.

Sánchez-Martínez R, Iriarte A, Mora-Luján JM, Patier JL, López-Wolf D, Ojeda A, Torralba MA, Juyol MC, Gil R, Añón S, Salazar-Mendiguchía J, Riera-Mestre A; RiHHTa Investigators of the Rare Diseases Working Group from the Spanish Society of Internal Medicine..

Orphanet J Rare Dis. 2020 Jun 5;15(1):138. doi: 10.1186/s13023-020-01422-8.

PubMed [citation]

PMID:: 32503579
PMCID:: PMC7275435

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 Invitae, SCV004642561.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 618515). This premature translational stop signal has been observed in individual(s) with hereditary hemorrhagic telangiectasia (PMID: 32503579). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr88*) 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).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 5, 2024

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