NM_000020.3(ACVRL1):c.536A>C (p.Asp179Ala) AND Pulmonary hypertension, primary, 1

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:: RCV000488472.2

Allele description [Variation Report for NM_000020.3(ACVRL1):c.536A>C (p.Asp179Ala)]

NM_000020.3(ACVRL1):c.536A>C (p.Asp179Ala)

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.536A>C (p.Asp179Ala)

HGVS:

NC_000012.12:g.51913984A>C
NG_009549.1:g.11567A>C
NM_000020.3:c.536A>CMANE SELECT
NM_001077401.2:c.536A>C
NP_000011.2:p.Asp179Ala
NP_000011.2:p.Asp179Ala
NP_001070869.1:p.Asp179Ala
LRG_543t1:c.536A>C
LRG_543:g.11567A>C
LRG_543p1:p.Asp179Ala
NC_000012.11:g.52307768A>C
NM_000020.2:c.536A>C

Protein change:

D179A

Links:

dbSNP: rs753792569

NCBI 1000 Genomes Browser:

rs753792569

Molecular consequence:

NM_000020.3:c.536A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001077401.2:c.536A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Pulmonary hypertension, primary, 1 (PPH1)
Identifiers:: MONDO: MONDO:0024533; MedGen: C4552070; Orphanet: 422; OMIM: 178600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000576318	Rare Disease Genomics Group, St George's University of London	no assertion criteria provided	Pathogenic	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000576318

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

no assertion criteria provided

Pathogenic

germline

literature only

PubMed (1)
[See all records that cite this PMID]

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

Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia.

Harrison RE, Flanagan JA, Sankelo M, Abdalla SA, Rowell J, Machado RD, Elliott CG, Robbins IM, Olschewski H, McLaughlin V, Gruenig E, Kermeen F, Halme M, Räisänen-Sokolowski A, Laitinen T, Morrell NW, Trembath RC.

J Med Genet. 2003 Dec;40(12):865-71. Erratum in: J Med Genet. 2004 Jul;41(7):576.

PubMed [citation]

PMID:: 14684682
PMCID:: PMC1735342

Details of each submission

From Rare Disease Genomics Group, St George's University of London, SCV000576318.1

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

#	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: Sep 29, 2024

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