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NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr) AND BMPR2-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 21, 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:
RCV004553064.1

Allele description [Variation Report for NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr)]

NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr)

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.797G>C (p.Arg266Thr)
Other names:
p.R266T:AGA>ACA; NM_001204.7(BMPR2):c.797G>C; p.Arg266Thr
HGVS:
  • NC_000002.12:g.202518997G>C
  • NG_009363.1:g.147671G>C
  • NM_001204.7:c.797G>CMANE SELECT
  • NP_001195.2:p.Arg266Thr
  • LRG_712t1:c.797G>C
  • LRG_712:g.147671G>C
  • LRG_712p1:p.R266T
  • NC_000002.11:g.203383720G>C
  • NM_001204.6:c.797G>C
  • NP_001195.2:p.R266T
Protein change:
R266T
Links:
dbSNP: rs374694591
NCBI 1000 Genomes Browser:
rs374694591
Molecular consequence:
  • NM_001204.7:c.797G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
BMPR2-related disorder
Synonyms:
BMPR2-related disorders; BMPR2-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004113973PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(May 21, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004113973.1

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

Description

The BMPR2 c.797G>C variant is predicted to result in the amino acid substitution p.Arg266Thr. This variant was reported in at least one individual with pulmonary arterial hypertension phenotypes (Table 1, Machado et al 2006. PubMed ID: 16429395; Machado et al. 2009. PubMed ID: 19555857; Table S3, Machado et al. 2015. PubMed ID: 26387786; Table S3, Zhu et al. 2019. PubMed ID: 31727138). However, segregation information was not provided. This variant is reported in 0.0097% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-203383720-G-C). While we suspect that this variant could be pathogenic, at this time we interpret its clinical significance as uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Oct 26, 2024