NM_001204.7(BMPR2):c.367T>C (p.Cys123Arg) AND Pulmonary hypertension, primary, 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jan 1, 2001
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:: RCV000009353.5

Allele description [Variation Report for NM_001204.7(BMPR2):c.367T>C (p.Cys123Arg)]

NM_001204.7(BMPR2):c.367T>C (p.Cys123Arg)

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.367T>C (p.Cys123Arg)

HGVS:

NC_000002.12:g.202467638T>C
NG_009363.1:g.96312T>C
NM_001204.7:c.367T>CMANE SELECT
NP_001195.2:p.Cys123Arg
LRG_712t1:c.367T>C
LRG_712:g.96312T>C
LRG_712p1:p.Cys123Arg
NC_000002.11:g.203332361T>C
NM_001204.6:c.367T>C
NP_001195.2:p.C123R
Q13873:p.Cys123Arg

Protein change:

C123R; CYS123ARG

Links:

UniProtKB: Q13873#VAR_013673; OMIM: 600799.0015; dbSNP: rs137852750

NCBI 1000 Genomes Browser:

rs137852750

Molecular consequence:

NM_001204.7:c.367T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000029571	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 2001)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000576050	Rare Disease Genomics Group, St George's University of London	no assertion criteria provided	Pathogenic	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 11115378, 18159113, 20534176

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000029571

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 2001)

germline

literature only

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

SCV000576050

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

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
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.

Machado RD, Pauciulo MW, Thomson JR, Lane KB, Morgan NV, Wheeler L, Phillips JA 3rd, Newman J, Williams D, Galiè N, Manes A, McNeil K, Yacoub M, Mikhail G, Rogers P, Corris P, Humbert M, Donnai D, Martensson G, Tranebjaerg L, Loyd JE, Trembath RC, et al.

Am J Hum Genet. 2001 Jan;68(1):92-102. Epub 2000 Dec 12.

PubMed [citation]

PMID:: 11115378
PMCID:: PMC1234937

Implications of mutations of activin receptor-like kinase 1 gene (ALK1) in addition to bone morphogenetic protein receptor II gene (BMPR2) in children with pulmonary arterial hypertension.

Fujiwara M, Yagi H, Matsuoka R, Akimoto K, Furutani M, Imamura S, Uehara R, Nakayama T, Takao A, Nakazawa M, Saji T.

Circ J. 2008 Jan;72(1):127-33.

PubMed [citation]

PMID:: 18159113

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000029571.1

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

Description

In 2 affected members of the same generation of a family with primary pulmonary hypertension (PPH1; 178600), Machado et al. (2001) identified a T-to-C transition at nucleotide 367 of the BMPR2 gene, predicted to result in a cys123-to-arg substitution. The ages of onset were 9 and 26 years.

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

From Rare Disease Genomics Group, St George's University of London, SCV000576050.1

#	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: Feb 20, 2024

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