NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter) AND Pulmonary hypertension, primary, dexfenfluramine-associated

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Sep 1, 2002
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:: RCV000009358.6

Allele description [Variation Report for NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter)]

NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter)

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.631C>T (p.Arg211Ter)

Other names:

p.R211*:CGA>TGA

HGVS:

NC_000002.12:g.202518831C>T
NG_009363.1:g.147505C>T
NM_001204.7:c.631C>TMANE SELECT
NP_001195.2:p.Arg211Ter
LRG_712t1:c.631C>T
LRG_712:g.147505C>T
LRG_712p1:p.Arg211Ter
NC_000002.11:g.203383554C>T
NM_001204.6:c.631C>T
NP_001195.2:p.R211*
p.Arg211*

Protein change:

R211*; ARG211TER

Links:

OMIM: 600799.0019; dbSNP: rs137852753

NCBI 1000 Genomes Browser:

rs137852753

Molecular consequence:

NM_001204.7:c.631C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Pulmonary hypertension, primary, dexfenfluramine-associated
Identifiers:: MedGen: C1969342

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000029576	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 2002)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 11015450, 11115378, 12358323
SCV000576092	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

SCV000029576

OMIM

no assertion criteria provided

Pathogenic
(Sep 1, 2002)

germline

literature only

PubMed (3)
[See all records that cite these PMIDs]

SCV000576092

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

Citations

PubMed

Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family.

Thomson JR, Machado RD, Pauciulo MW, Morgan NV, Humbert M, Elliott GC, Ward K, Yacoub M, Mikhail G, Rogers P, Newman J, Wheeler L, Higenbottam T, Gibbs JS, Egan J, Crozier A, Peacock A, Allcock R, Corris P, Loyd JE, Trembath RC, Nichols WC.

J Med Genet. 2000 Oct;37(10):741-5.

PubMed [citation]

PMID:: 11015450
PMCID:: PMC1757155

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

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000029576.1

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

Description

In a patient with sporadic primary pulmonary hypertension (PPH1; 178600), Thomson et al. (2000) identified heterozygosity for a 631C-T transition in exon 6 of the BMPR2 gene, resulting in an arg211-to-ter (R211X) substitution. The mutation was not found in 150 normal chromosomes.

Machado et al. (2001) found the R211X mutation in 2 affected members of the same generation of an Italian family with primary pulmonary hypertension. Age of onset of disease was 17 and 18 years, respectively.

Humbert et al. (2002) analyzed the BMPR2 gene in 2 sisters who developed pulmonary arterial hypertension after 1 and 2 months' exposure to dexfenfluramine, respectively, and identified the R211X mutation in both sisters. The mutation was not found in 260 ethnically matched control chromosomes.

#	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, SCV000576092.1

#	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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