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NM_001204.7(BMPR2):c.1087C>G (p.Leu363Val) AND Pulmonary arterial hypertension

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 30, 2024
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV004552005.1

Allele description [Variation Report for NM_001204.7(BMPR2):c.1087C>G (p.Leu363Val)]

NM_001204.7(BMPR2):c.1087C>G (p.Leu363Val)

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.1087C>G (p.Leu363Val)
Other names:
NM_001204.7(BMPR2):c.1087C>G; p.Leu363Val
HGVS:
  • NC_000002.12:g.202530913C>G
  • NG_009363.1:g.159587C>G
  • NM_001204.7:c.1087C>GMANE SELECT
  • NP_001195.2:p.Leu363Val
  • LRG_712t1:c.1087C>G
  • LRG_712:g.159587C>G
  • NC_000002.11:g.203395636C>G
  • NM_001204.6:c.1087C>G
Protein change:
L363V
Links:
dbSNP: rs781018234
NCBI 1000 Genomes Browser:
rs781018234
Molecular consequence:
  • NM_001204.7:c.1087C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pulmonary arterial hypertension
Identifiers:
MONDO: MONDO:0015924; MeSH: D000081029; MedGen: C2973725; Orphanet: 182090; Human Phenotype Ontology: HP:0002092

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005043324Clingen Pulmonary Hypertension Variant Curation Expert Panel, ClinGen
reviewed by expert panel

(ClinGen PH ACMG Specifications BMPR2 V1.1.0)		Uncertain Significance
(Apr 30, 2024) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From Clingen Pulmonary Hypertension Variant Curation Expert Panel, ClinGen, SCV005043324.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The BMPR2 c.1087C>G is a missense variant predicted to cause substitution of leucine to valine at amino acid position 363 ((p.(Leu363Val)). This variant is absent from gnomAD version2.1.1 controls and v3.1.2 (PM2_supporting met). The variant resides in the highly conserved protein kinase domain without functional evidence for a critical or non-critical role on protein function (PM1 met). The variant is predicted to have no effect on protein function with REVEL score of 0.24, which meets the threshold for BP4 (<0.25). There is another individual with the same variant in ClinVar but with insufficient evidence for a pulmonary arterial hypertension diagnosis. In summary, the variant meets the criteria to be classified as a variant of unknown significance (VUS) for pulmonary arterial hypertension based on the ACMG/AMP criteria applied, as specified by the ClinGen Pulmonary Hypertension VCEP: PM2_supporting, PM1, BP4 (VCEP specification version 1.1, 1/18/2024).

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

Last Updated: Sep 29, 2024