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NM_001204.7(BMPR2):c.786dup (p.Gly263fs) 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:
RCV000488498.2

Allele description [Variation Report for NM_001204.7(BMPR2):c.786dup (p.Gly263fs)]

NM_001204.7(BMPR2):c.786dup (p.Gly263fs)

Gene:
BMPR2:bone morphogenetic protein receptor type 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q33.2
Genomic location:
Preferred name:
NM_001204.7(BMPR2):c.786dup (p.Gly263fs)
HGVS:
  • NC_000002.12:g.202518986dup
  • NG_009363.1:g.147660dup
  • NM_001204.7:c.786dupMANE SELECT
  • NP_001195.2:p.Gly263fs
  • LRG_712t1:c.786dup
  • LRG_712:g.147660dup
  • LRG_712p1:p.G263Wfs*3
  • NC_000002.11:g.203383709dup
  • NM_001204.6:c.786dupT
  • NP_001195.2:p.G263Wfs*3
Protein change:
G263fs
Links:
dbSNP: rs1085307257
NCBI 1000 Genomes Browser:
rs1085307257
Molecular consequence:
  • NM_001204.7:c.786dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000576106Rare Disease Genomics Group, St George's University of London
no assertion criteria provided
Pathogenicgermlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature 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

Details of each submission

From Rare Disease Genomics Group, St George's University of London, SCV000576106.1

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

Last Updated: Sep 29, 2024