U.S. flag

An official website of the United States government

NM_001204.7(BMPR2):c.2797A>T (p.Arg933Ter) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 10, 2020
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:
RCV001811922.13

Allele description [Variation Report for NM_001204.7(BMPR2):c.2797A>T (p.Arg933Ter)]

NM_001204.7(BMPR2):c.2797A>T (p.Arg933Ter)

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.2797A>T (p.Arg933Ter)
HGVS:
  • NC_000002.12:g.202556462A>T
  • NG_009363.1:g.185136A>T
  • NM_001204.7:c.2797A>TMANE SELECT
  • NP_001195.2:p.Arg933Ter
  • LRG_712:g.185136A>T
  • NC_000002.11:g.203421185A>T
Protein change:
R933*
Links:
dbSNP: rs766741057
NCBI 1000 Genomes Browser:
rs766741057
Molecular consequence:
  • NM_001204.7:c.2797A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002048765ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2021)		Likely pathogenic
(Nov 10, 2020) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV002048765.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The BMPR2 c.2797A>T; p.Arg933Ter variant, to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Several other truncating variants nearby or downstream of p.Arg933Ter have been reported in individuals affected with pulmonary hypertension (Morisaki 2004, Zhu 2019). Based on available information, the p.Arg933Ter variant is considered to be likely pathogenic. References: Morisaki H et al. BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension. Hum Mutat. 2004 Jun;23(6):632. Zhu N et al. Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension. Genome Med. 2019 Nov 14;11(1):69.

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

Last Updated: Nov 3, 2024