NM_000020.3(ACVRL1):c.289_294del (p.His97_Asn98del) AND Telangiectasia, hereditary hemorrhagic, type 2

Germline classification:: Pathogenic (1 submission)
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:: RCV003236766.1

Allele description [Variation Report for NM_000020.3(ACVRL1):c.289_294del (p.His97_Asn98del)]

NM_000020.3(ACVRL1):c.289_294del (p.His97_Asn98del)

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.289_294del (p.His97_Asn98del)

Other names:

chr12-51913321 GCAACCA>G

HGVS:

NC_000012.12:g.51913326_51913331del
NG_009549.1:g.10909_10914del
NG_125717.1:g.104_109del
NM_000020.3:c.289_294delMANE SELECT
NM_001077401.2:c.289_294del
NM_001406487.1:c.289_294del
NM_001406488.1:c.289_294del
NM_001406489.1:c.289_294del
NM_001406490.1:c.289_294del
NM_001406491.1:c.289_294del
NM_001406492.1:c.289_294del
NM_001406493.1:c.289_294del
NM_001406494.1:c.289_294del
NM_001406495.1:c.61+791_61+796del
NP_000011.2:p.His97_Asn98del
NP_000011.2:p.His97_Asn98del
NP_001070869.1:p.His97_Asn98del
NP_001393416.1:p.His97_Asn98del
NP_001393417.1:p.His97_Asn98del
NP_001393418.1:p.His97_Asn98del
NP_001393419.1:p.His97_Asn98del
NP_001393420.1:p.His97_Asn98del
NP_001393421.1:p.His97_Asn98del
NP_001393422.1:p.His97_Asn98del
NP_001393423.1:p.His97_Asn98del
LRG_543t1:c.289_294del
LRG_543:g.10909_10914del
LRG_543p1:p.His97_Asn98del
NC_000012.11:g.52307110_52307115del
NM_000020.2:c.289_294delCACAAC

Molecular consequence:

NM_000020.3:c.289_294del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001077401.2:c.289_294del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406487.1:c.289_294del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406488.1:c.289_294del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406489.1:c.289_294del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406490.1:c.289_294del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406491.1:c.289_294del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406492.1:c.289_294del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406493.1:c.289_294del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406494.1:c.289_294del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001406495.1:c.61+791_61+796del - 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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Taxonomy Links for Protein (Select 1176771990) (1)
Taxonomy
MAG: Anaerolineae bacterium UTCFX1 contig_6204, whole genome shotgun sequence
MAG: Anaerolineae bacterium UTCFX1 contig_6204, whole genome shotgun sequence
gi|1162432486|gb|MWTB01000011.1||gn :MWTB01|contig_6204

Nucleotide
MAG: hypothetical protein B6D38_05550 [Anaerolineae bacterium UTCFX1]
MAG: hypothetical protein B6D38_05550 [Anaerolineae bacterium UTCFX1]
gi|1176771984|gb|OQY89860.1||gnl|WG B|B6D38_05550

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003935205	HHT Research Lab - C. Olivieri, University Of Pavia	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	inherited	research	PubMed (2) [See all records that cite these PMIDs] 35620871, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003935205

HHT Research Lab - C. Olivieri, University Of Pavia

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

inherited

research

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
European	inherited	yes	66	19	not provided	not provided	not provided	research

Citations

PubMed

Hereditary hemorrhagic telangiectasia: First demonstration of a founder effect in Italy; the ACVRL1 c.289_294del variant originated in the country of Bergamo 200 years ago.

Sbalchiero A, Abu Hweij Y, Mazza T, Buscarini E, Scotti C, Pagella F, Manfredi G, Matti E, Spinozzi G, Olivieri C.

Mol Genet Genomic Med. 2022 Aug;10(8):e1972. doi: 10.1002/mgg3.1972. Epub 2022 May 27.

PubMed [citation]

PMID:: 35620871
PMCID:: PMC9356557

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From HHT Research Lab - C. Olivieri, University Of Pavia, SCV003935205.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	European	66	not provided	not provided	research	PubMed (2)

Description

This in frame deletion variant in ACVRL1 was founded in 66 subjects showing clinical signs of HHT. Other 22 unaffected relatives were tested to test the effective co-segregation of the variant with the disease. These 88 individuals belong to 19 different families. For this variant was demonstrated an Italian Founder effect. PMID: 35620871

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		66	not provided	19	not provided

Last Updated: Jul 1, 2023

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