NM_001204.7(BMPR2):c.1039T>C (p.Cys347Arg) 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:: RCV000488554.2

Allele description [Variation Report for NM_001204.7(BMPR2):c.1039T>C (p.Cys347Arg)]

NM_001204.7(BMPR2):c.1039T>C (p.Cys347Arg)

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.1039T>C (p.Cys347Arg)

HGVS:

NC_000002.12:g.202530865T>C
NG_009363.1:g.159539T>C
NM_001204.7:c.1039T>CMANE SELECT
NP_001195.2:p.Cys347Arg
LRG_712t1:c.1039T>C
LRG_712:g.159539T>C
NC_000002.11:g.203395588T>C
NM_001204.6:c.1039T>C

Protein change:

C347R

Links:

dbSNP: rs1085307290

NCBI 1000 Genomes Browser:

rs1085307290

Molecular consequence:

NM_001204.7:c.1039T>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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Saccharomyces cerevisiae S288C MCM DNA helicase complex subunit MCM4 (MCM4), par...
Saccharomyces cerevisiae S288C MCM DNA helicase complex subunit MCM4 (MCM4), partial mRNA
gi|296148668|ref|NM_001184116.1|

Nucleotide
transcription factor [Homo sapiens]
transcription factor [Homo sapiens]
gi|35475|emb|CAA44295.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000576155	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

SCV000576155

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

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

Details of each submission

From Rare Disease Genomics Group, St George's University of London, SCV000576155.1

#	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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