NM_000020.3(ACVRL1):c.37del (p.Leu13fs) AND Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia

Germline classification:: Pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000488723.2

Allele description [Variation Report for NM_000020.3(ACVRL1):c.37del (p.Leu13fs)]

NM_000020.3(ACVRL1):c.37del (p.Leu13fs)

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.37del (p.Leu13fs)

HGVS:

NC_000012.12:g.51912511del
NG_009549.1:g.10094del
NM_000020.3:c.37delMANE SELECT
NM_001077401.2:c.37del
NP_000011.2:p.L13Cfs*2
NP_000011.2:p.Leu13fs
NP_001070869.1:p.Leu13fs
LRG_543:g.10094del
NC_000012.11:g.52306295del
NM_000020.2:c.37delC

Protein change:

L13fs

Links:

dbSNP: rs1085307404

NCBI 1000 Genomes Browser:

rs1085307404

Molecular consequence:

NM_000020.3:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001077401.2:c.37del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Synonyms:: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED
Identifiers:: MedGen: C1832529

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000576314	Rare Disease Genomics Group, St George's University of London	no assertion criteria provided	Pathogenic	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 11484689, 20056902

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000576314

Rare Disease Genomics Group, St George's University of London

no assertion criteria provided

Pathogenic

germline

literature only

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	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.

Trembath RC, Thomson JR, Machado RD, Morgan NV, Atkinson C, Winship I, Simonneau G, Galie N, Loyd JE, Humbert M, Nichols WC, Morrell NW, Berg J, Manes A, McGaughran J, Pauciulo M, Wheeler L.

N Engl J Med. 2001 Aug 2;345(5):325-34.

PubMed [citation]

PMID:: 11484689

Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation.

Girerd B, Montani D, Coulet F, Sztrymf B, Yaici A, Jaïs X, Tregouet D, Reis A, Drouin-Garraud V, Fraisse A, Sitbon O, O'Callaghan DS, Simonneau G, Soubrier F, Humbert M.

Am J Respir Crit Care Med. 2010 Apr 15;181(8):851-61. doi: 10.1164/rccm.200908-1284OC. Epub 2010 Jan 7.

PubMed [citation]

PMID:: 20056902

Details of each submission

From Rare Disease Genomics Group, St George's University of London, SCV000576314.1

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

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

Last Updated: Feb 20, 2024

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