Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Link to SEPIO compliant JSON-LD document

Variant: NM_001204.7(BMPR2):c.1126G>T (p.Glu376Ter)

CA350341605

425876 (ClinVar)

Gene: BMPR2

Condition: pulmonary arterial hypertension

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 0727e26f-4fdd-43b6-84dc-1ca98dc8dc80

Approved on: 2024-09-20

Published on: 2024-09-20

HGVS expressions

NM_001204.7:c.1126G>T

NM_001204.7(BMPR2):c.1126G>T (p.Glu376Ter)

NC_000002.12:g.202530952G>T

CM000664.2:g.202530952G>T

NC_000002.11:g.203395675G>T

CM000664.1:g.203395675G>T

NC_000002.10:g.203103920G>T

NG_009363.1:g.159626G>T

ENST00000374580.10:c.1126G>T

ENST00000638587.1:c.1057G>T

ENST00000374574.2:c.1126G>T

ENST00000374580.8:c.1126G>T

NM_001204.6:c.1126G>T

Pathogenic

PVS1 PM2 PS4_Supporting

BS1 BA1

Evidence Links 0

Expert Panel

Pulmonary Hypertension VCEP

Criteria Specification Information

Criteria Specification: ClinGen Pulmonary Hypertension Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BMPR2 Version 1.1.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Pulmonary Hypertension VCEP

BMPR2 c.1126G>T (p.Glu376Ter) variant is predicted to cause premature stop at residue 376, in exon 8, and lead to nonsense mediated decay. The variant is absent from gnomAD v2.1.1 and v4.1 (PM2_supporting met) and was identified in two unrelated idiopathic PAH probands (PMID: 26387786 and PMID: 31727138) (PS4_supporting met). In summary, the variant meets the criteria to be classified as pathogenic for pulmonary arterial hypertension based on the ACMG/AMP criteria applied, as specified by the ClinGen Pulmonary Hypertension VCEP: PVS1, PM2_supporting, PS4_supporting (VCEP specification version 1.1, 1/18/2024).

PVS1

The variant is a nonsense variant predicted to cause premature stop at residue 376, in exon 8, leading to nonsense mediated decay.

PM2

The variant is absent from gnomAD v2.1.1 and v4.1.

PS4_Supporting

The variant was identified in two unrelated idiopathic pulmonary arterial hypertension patients (PMID: 26387786 and PMID: 31727138).

BS1

The variant is absent from gnomAD v2.1.1 and v4.1.

BA1

The variant is absent from gnomAD v2.1.1 and v4.1.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.