NM_000020.3(ACVRL1):c.851_905del (p.Gly283_Ser284insTer) AND Telangiectasia, hereditary hemorrhagic, type 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 6, 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:: RCV003621161.2

Allele description [Variation Report for NM_000020.3(ACVRL1):c.851_905del (p.Gly283_Ser284insTer)]

NM_000020.3(ACVRL1):c.851_905del (p.Gly283_Ser284insTer)

Gene:

ACVRL1:activin A receptor like type 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12q13.13

Genomic location:

Preferred name:

NM_000020.3(ACVRL1):c.851_905del (p.Gly283_Ser284insTer)

HGVS:

NC_000012.12:g.51915303_51915357del
NG_009549.1:g.12886_12940del
NG_125718.1:g.602_656del
NM_000020.3:c.851_905delMANE SELECT
NM_001077401.2:c.851_905del
NM_001406487.1:c.851_905del
NM_001406488.1:c.851_905del
NM_001406489.1:c.851_905del
NM_001406490.1:c.539_593del
NM_001406491.1:c.539_593del
NM_001406492.1:c.539_593del
NM_001406493.1:c.539_593del
NM_001406494.1:c.539_593del
NM_001406495.1:c.287_341del
NP_000011.2:p.Gly283_Ser284insTer
NP_000011.2:p.Ser284Terfs
NP_001070869.1:p.Gly283_Ser284insTer
NP_001393416.1:p.Gly283_Ser284insTer
NP_001393417.1:p.Gly283_Ser284insTer
NP_001393418.1:p.Gly283_Ser284insTer
NP_001393419.1:p.Gly179_Ser180insTer
NP_001393420.1:p.Gly179_Ser180insTer
NP_001393421.1:p.Gly179_Ser180insTer
NP_001393422.1:p.Gly179_Ser180insTer
NP_001393423.1:p.Gly179_Ser180insTer
NP_001393424.1:p.Gly95_Ser96insTer
LRG_543t1:c.851_905del55
LRG_543:g.12886_12940del
LRG_543p1:p.Ser284Terfs
NC_000012.11:g.52309083_52309137del
NC_000012.11:g.52309087_52309141del
NM_000020.2:c.851_905del55

Molecular consequence:

NM_000020.3:c.851_905del - nonsense - [Sequence Ontology: SO:0001587]
NM_001077401.2:c.851_905del - nonsense - [Sequence Ontology: SO:0001587]
NM_001406487.1:c.851_905del - nonsense - [Sequence Ontology: SO:0001587]
NM_001406488.1:c.851_905del - nonsense - [Sequence Ontology: SO:0001587]
NM_001406489.1:c.851_905del - nonsense - [Sequence Ontology: SO:0001587]
NM_001406490.1:c.539_593del - nonsense - [Sequence Ontology: SO:0001587]
NM_001406491.1:c.539_593del - nonsense - [Sequence Ontology: SO:0001587]
NM_001406492.1:c.539_593del - nonsense - [Sequence Ontology: SO:0001587]
NM_001406493.1:c.539_593del - nonsense - [Sequence Ontology: SO:0001587]
NM_001406494.1:c.539_593del - nonsense - [Sequence Ontology: SO:0001587]
NM_001406495.1:c.287_341del - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004503686	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Apr 6, 2023)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 15879500, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004503686

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Apr 6, 2023)

germline

clinical testing

PubMed (2)
[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

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004503686.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This sequence change creates a premature translational stop signal (p.Ser284*) 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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ACVRL1-related conditions. This variant is not present in population databases (gnomAD no frequency).

#	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: Sep 29, 2024

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