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NM_001204.7(BMPR2):c.1277-2A>G AND Primary pulmonary hypertension

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 7, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002549221.3

Allele description [Variation Report for NM_001204.7(BMPR2):c.1277-2A>G]

NM_001204.7(BMPR2):c.1277-2A>G

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.1277-2A>G
HGVS:
  • NC_000002.12:g.202542309A>G
  • NG_009363.1:g.170983A>G
  • NM_001204.7:c.1277-2A>GMANE SELECT
  • LRG_712t1:c.1277-2A>G
  • LRG_712:g.170983A>G
  • NC_000002.11:g.203407032A>G
  • NC_000002.11:g.203407032A>G
  • NM_001204.6:c.1277-2A>G
Links:
dbSNP: rs1574499954
NCBI 1000 Genomes Browser:
rs1574499954
Molecular consequence:
  • NM_001204.7:c.1277-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Primary pulmonary hypertension (PPH1)
Identifiers:
MONDO: MONDO:0001999; MedGen: C0152171

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003524891Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jun 7, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension.

Hara H, Takeda N, Morita H, Hatano M, Amiya E, Maki H, Minatsuki S, Taki M, Shiraishi Y, Fujiwara T, Maemura S, Komuro I.

Hum Genome Var. 2017;4:17010. doi: 10.1038/hgv.2017.10.

PubMed [citation]
PMID:
28480048
PMCID:
PMC5397398

Germline BMP9 mutation causes idiopathic pulmonary arterial hypertension.

Wang XJ, Lian TY, Jiang X, Liu SF, Li SQ, Jiang R, Wu WH, Ye J, Cheng CY, Du Y, Xu XQ, Wu Y, Peng FH, Sun K, Mao YM, Yu H, Liang C, Shyy JY, Zhang SY, Zhang X, Jing ZC.

Eur Respir J. 2019 Mar 14;53(3). doi:pii: 1801609. 10.1183/13993003.01609-2018. Print 2019 Mar.

PubMed [citation]
PMID:
30578397
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003524891.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in skipping of exon 10 and introduces a premature termination codon (PMID: 28480048). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 812830). This variant is also known as IVS9-2A>G. Disruption of this splice site has been observed in individuals with pulmonary arterial hypertension (PMID: 28480048, 30578397). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 9 of the BMPR2 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024