NM_001204.7(BMPR2):c.27G>A (p.Trp9Ter) AND Pulmonary hypertension, primary, 1

This record was updated by the submitter. Please see the current version.

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:: RCV000488550.1

Allele description

NM_001204.7(BMPR2):c.27G>A (p.Trp9Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q33.1

Genomic location:

Preferred name:

NM_001204.7(BMPR2):c.27G>A (p.Trp9Ter)

HGVS:

NC_000002.12:g.202377501G>A
NG_009363.1:g.6175G>A
NM_001204.7:c.27G>AMANE SELECT
NP_001195.2:p.Trp9Ter
NP_001195.2:p.W9*
LRG_712t1:c.27G>A
LRG_712:g.6175G>A
LRG_712p1:p.W9*
NC_000002.11:g.203242224G>A
NM_001204.6:c.27G>A

Protein change:

W9*

Links:

dbSNP: rs1085307149

NCBI 1000 Genomes Browser:

rs1085307149

Molecular consequence:

NM_001204.7:c.27G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Pulmonary hypertension, primary, 1
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
SCV000575952	Medical & Molecular Genetics Group, University of Lincoln	no assertion criteria provided	Pathogenic	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 16429395, 21737554, 26387786

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000575952

Medical & Molecular Genetics Group, University of Lincoln

no assertion criteria provided

Pathogenic

germline

literature only

PubMed (3)
[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

Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.

Machado RD, Aldred MA, James V, Harrison RE, Patel B, Schwalbe EC, Gruenig E, Janssen B, Koehler R, Seeger W, Eickelberg O, Olschewski H, Elliott CG, Glissmeyer E, Carlquist J, Kim M, Torbicki A, Fijalkowska A, Szewczyk G, Parma J, Abramowicz MJ, Galie N, et al.

Hum Mutat. 2006 Feb;27(2):121-32.

PubMed [citation]

PMID:: 16429395

Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients.

Liu D, Liu QQ, Eyries M, Wu WH, Yuan P, Zhang R, Soubrier F, Jing ZC.

Eur Respir J. 2012 Mar;39(3):597-603. doi: 10.1183/09031936.00072911. Epub 2011 Jul 7.

PubMed [citation]

PMID:: 21737554

See all PubMed Citations (3)

Details of each submission

From Medical & Molecular Genetics Group, University of Lincoln, SCV000575952.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

#	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: Aug 19, 2023

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