NM_001204.6(BMPR2):c.240_241insT (p.Lys81Terfs) AND Primary pulmonary hypertension

Clinical significance:Pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000488761.1

Allele description

NM_001204.6(BMPR2):c.240_241insT (p.Lys81Terfs)

Gene:
BMPR2:bone morphogenetic protein receptor type 2 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
2q33.1
Genomic location:
Preferred name:
NM_001204.6(BMPR2):c.240_241insT (p.Lys81Terfs)
Other names:
NP_001195.2:p.K81*
HGVS:
  • NC_000002.12:g.202464972_202464973insT
  • NG_009363.1:g.93646_93647insT
  • NM_001204.6:c.240_241insT
  • NP_001195.2:p.Lys81Terfs
  • LRG_712t1:c.240_241insT
  • LRG_712:g.93646_93647insT
  • LRG_712p1:p.Lys81Terfs
  • NC_000002.11:g.203329695_203329696insT
Links:
dbSNP: rs1085307183
NCBI 1000 Genomes Browser:
rs1085307183
Molecular consequence:
  • NM_001204.6:c.240_241insT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Primary pulmonary hypertension (PPH1)
Synonyms:
PULMONARY HYPERTENSION, PRIMARY, 1; Pulmonary arterial hypertension
Identifiers:
MedGen: C0152171; Orphanet: 182090; Orphanet: 422; OMIM: 178600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000575999Medical & Molecular Genetics Group,University of Lincolnno assertion criteria providedPathogenicgermlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

A novel BMPR2 mutation associated with pulmonary arterial hypertension in an octogenarian.

Johri S, Dunnington GH, Vnencak-Jones CL.

Lung. 2010 Aug;188(4):349-52. doi: 10.1007/s00408-010-9242-7. Epub 2010 May 23.

PubMed [citation]
PMID:
20496075
PMCID:
PMC2899024

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Machado RD, Southgate L, Eichstaedt CA, Aldred MA, Austin ED, Best DH, Chung WK, Benjamin N, Elliott CG, Eyries M, Fischer C, Gräf S, Hinderhofer K, Humbert M, Keiles SB, Loyd JE, Morrell NW, Newman JH, Soubrier F, Trembath RC, Viales RR, Grünig E.

Hum Mutat. 2015 Dec;36(12):1113-27. doi: 10.1002/humu.22904. Epub 2015 Oct 12. Review.

PubMed [citation]
PMID:
26387786
PMCID:
PMC4822159

Details of each submission

From Medical & Molecular Genetics Group,University of Lincoln, SCV000575999.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 12, 2018