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NM_001204.7(BMPR2):c.295T>C (p.Cys99Arg) 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:
RCV000488549.3

Allele description [Variation Report for NM_001204.7(BMPR2):c.295T>C (p.Cys99Arg)]

NM_001204.7(BMPR2):c.295T>C (p.Cys99Arg)

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.295T>C (p.Cys99Arg)
Other names:
p.C99R:TGT>CGT
HGVS:
  • NC_000002.12:g.202467566T>C
  • NG_009363.1:g.96240T>C
  • NM_001204.7:c.295T>CMANE SELECT
  • NP_001195.2:p.Cys99Arg
  • LRG_712t1:c.295T>C
  • LRG_712:g.96240T>C
  • LRG_712p1:p.C99R
  • NC_000002.11:g.203332289T>C
  • NM_001204.6:c.295T>C
  • NP_001195.2:p.C99R
Protein change:
C99R
Links:
dbSNP: rs863223425
NCBI 1000 Genomes Browser:
rs863223425
Molecular consequence:
  • NM_001204.7:c.295T>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000576029Rare Disease Genomics Group, St George's University of London
no assertion criteria provided
Pathogenicgermlineliterature only

PubMed (3)
[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

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

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 (3)

Details of each submission

From Rare Disease Genomics Group, St George's University of London, SCV000576029.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024