Evidence Repository
The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]
  • Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
  • No CSPEC computer assertion could be determined for this classification!

Variant: NM_001204.7(BMPR2):c.240_241insT (p.Lys81Ter)

CA645293999

425725 (ClinVar)

Gene: BMPR2
Condition: pulmonary arterial hypertension
Inheritance Mode: Autosomal dominant inheritance
Link to MONDO
UUID: 3f6b7a5a-1054-4f88-8716-48d26795389c
Approved on: 2024-05-03
Published on: 2024-05-03

HGVS expressions

NM_001204.7:c.240_241insT
NM_001204.7(BMPR2):c.240_241insT (p.Lys81Ter)
NC_000002.12:g.202464972_202464973insT
CM000664.2:g.202464972_202464973insT
NC_000002.11:g.203329695_203329696insT
CM000664.1:g.203329695_203329696insT
NC_000002.10:g.203037940_203037941insT
NG_009363.1:g.93646_93647insT
ENST00000374580.10:c.240_241insT
ENST00000638587.1:c.165_166insT
ENST00000374574.2:c.240_241insT
ENST00000374580.8:c.240_241insT
ENST00000479069.1:n.147_148insT
NM_001204.6:c.240_241insT
More

Likely Pathogenic

Met criteria codes 2
PM2_Supporting PVS1

Evidence Links 0

Expert Panel

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
The NM_001204.7(BMPR2):c.240_241insT (p.Lys81Ter) variant is a DNA single thymine base insertion predicted to cause a frameshift, replacing a lysine residue for a stop codon at position 81. The variant is absent from the gnomAD v.2.1.1 controls and v3.0 (PM2_supporting). c.240_241insT was found in a patient with pulmonary arterial hypertension (PMID:20496075). The variant resides in the second exon of BMPR2 and generates a stop codon that is predicted to cause nonsense-mediated decay (PVS1). In summary, this variant meets the criteria to be classified as likely pathogenic for pulmonary arterial hypertension based on ACMG/AMP criteria applied, as specified by the ClinGen Pulmonary Hypertension VCEP: PM2_supporting, PVS1 (VCEP specification version v 1.1, 1/18/2024).
Met criteria codes
PM2_Supporting
The variant is absent from gnomAD genomes v3.0 and gnomAD exomes v.2.1.1
PVS1
The insertion of a single thymine in the exon 2 of BMPR2 replaces the lysine residue in position 81 with a stop codon. The presence of a premature stop codon is predicted to result in a truncated form of the protein that is often non-functional. The mRNA in this case is predicted to undergo nonsense-mediated decay.
Curation History
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.
¤ Powered by BCM's Genboree.