NM_001204.7(BMPR2):c.1297C>T (p.Gln433Ter) 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:: RCV000488712.2

Allele description [Variation Report for NM_001204.7(BMPR2):c.1297C>T (p.Gln433Ter)]

NM_001204.7(BMPR2):c.1297C>T (p.Gln433Ter)

Gene:

BMPR2:bone morphogenetic protein receptor type 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q33.2

Genomic location:

Preferred name:

NM_001204.7(BMPR2):c.1297C>T (p.Gln433Ter)

HGVS:

NC_000002.12:g.202542331C>T
NG_009363.1:g.171005C>T
NM_001204.7:c.1297C>TMANE SELECT
NP_001195.2:p.Gln433Ter
LRG_712t1:c.1297C>T
LRG_712:g.171005C>T
LRG_712p1:p.Gln433Ter
NC_000002.11:g.203407054C>T
NM_001204.6:c.1297C>T
NP_001195.2:p.Q433*

Protein change:

Q433*; GLN433TER

Links:

OMIM: 600799.0026; dbSNP: rs137852756

NCBI 1000 Genomes Browser:

rs137852756

Molecular consequence:

NM_001204.7:c.1297C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000576219	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] 21801371, 23298310

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000576219

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

Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations.

Pfarr N, Szamalek-Hoegel J, Fischer C, Hinderhofer K, Nagel C, Ehlken N, Tiede H, Olschewski H, Reichenberger F, Ghofrani AH, Seeger W, Grünig E.

Respir Res. 2011 Jul 29;12:99. doi: 10.1186/1465-9921-12-99.

PubMed [citation]

PMID:: 21801371
PMCID:: PMC3163544

Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension.

Pfarr N, Fischer C, Ehlken N, Becker-Grünig T, López-González V, Gorenflo M, Hager A, Hinderhofer K, Miera O, Nagel C, Schranz D, Grünig E.

Respir Res. 2013 Jan 9;14:3. doi: 10.1186/1465-9921-14-3.

PubMed [citation]

PMID:: 23298310
PMCID:: PMC3547748

Details of each submission

From Rare Disease Genomics Group, St George's University of London, SCV000576219.1

#	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: Sep 29, 2024

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