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NM_001204.7(BMPR2):c.637C>T (p.Arg213Ter) 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:
RCV000488654.3

Allele description [Variation Report for NM_001204.7(BMPR2):c.637C>T (p.Arg213Ter)]

NM_001204.7(BMPR2):c.637C>T (p.Arg213Ter)

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.637C>T (p.Arg213Ter)
Other names:
p.Arg213Ter
HGVS:
  • NC_000002.12:g.202518837C>T
  • NG_009363.1:g.147511C>T
  • NM_001204.7:c.637C>TMANE SELECT
  • NP_001195.2:p.Arg213Ter
  • LRG_712t1:c.637C>T
  • LRG_712:g.147511C>T
  • LRG_712p1:p.R213*
  • NC_000002.11:g.203383560C>T
  • NM_001204.6:c.637C>T
  • NP_001195.2:p.R213*
Protein change:
R213*
Links:
dbSNP: rs886041324
NCBI 1000 Genomes Browser:
rs886041324
Molecular consequence:
  • NM_001204.7:c.637C>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000576093Rare Disease Genomics Group, St George's University of London
no assertion criteria provided
Pathogenicgermlineliterature only

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension.

Morisaki H, Nakanishi N, Kyotani S, Takashima A, Tomoike H, Morisaki T.

Hum Mutat. 2004 Jun;23(6):632. Erratum in: Hum Mutat. 2004 Sep;24(3):275.

PubMed [citation]
PMID:
15146475

Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension.

Elliott CG, Glissmeyer EW, Havlena GT, Carlquist J, McKinney JT, Rich S, McGoon MD, Scholand MB, Kim M, Jensen RL, Schmidt JW, Ward K.

Circulation. 2006 May 30;113(21):2509-15. Epub 2006 May 22.

PubMed [citation]
PMID:
16717148
See all PubMed Citations (5)

Details of each submission

From Rare Disease Genomics Group, St George's University of London, SCV000576093.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024