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NM_001204.7(BMPR2):c.894G>A (p.Trp298Ter) AND Primary pulmonary hypertension

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 26, 2021
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:
RCV001874756.6

Allele description [Variation Report for NM_001204.7(BMPR2):c.894G>A (p.Trp298Ter)]

NM_001204.7(BMPR2):c.894G>A (p.Trp298Ter)

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.894G>A (p.Trp298Ter)
HGVS:
  • NC_000002.12:g.202520128G>A
  • NG_009363.1:g.148802G>A
  • NM_001204.7:c.894G>AMANE SELECT
  • NP_001195.2:p.Trp298Ter
  • LRG_712:g.148802G>A
  • NC_000002.11:g.203384851G>A
Protein change:
W298*
Links:
dbSNP: rs2106008336
NCBI 1000 Genomes Browser:
rs2106008336
Molecular consequence:
  • NM_001204.7:c.894G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002144408Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Mar 26, 2021) 		germlineclinical testing

PubMed (4)
[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

Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension.

Zhu N, Pauciulo MW, Welch CL, Lutz KA, Coleman AW, Gonzaga-Jauregui C, Wang J, Grimes JM, Martin LJ, He H; PAH Biobank Enrolling Centers’ Investigators., Shen Y, Chung WK, Nichols WC.

Genome Med. 2019 Nov 14;11(1):69. doi: 10.1186/s13073-019-0685-z. Erratum in: Genome Med. 2022 Feb 7;14(1):12. doi: 10.1186/s13073-022-01014-0.

PubMed [citation]
PMID:
31727138
PMCID:
PMC6857288

Complex inheritance in Pulmonary Arterial Hypertension patients with several mutations.

Pousada G, Baloira A, Valverde D.

Sci Rep. 2016 Sep 15;6:33570. doi: 10.1038/srep33570.

PubMed [citation]
PMID:
27630060
PMCID:
PMC5024326
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002144408.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. This nonsense change has been observed in individual(s) with pulmonary arterial hypertension (PMID: 31727138, 27630060). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp298*) in the BMPR2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BMPR2 are known to be pathogenic (PMID: 16429395).

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

Last Updated: Sep 29, 2024