ClinVar Genomic variation as it relates to human health
NM_001204.7(BMPR2):c.(76+1_77-1)_(247+1_248-1)del
Germline
Classification
(3)
Pathogenic
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
BMPR2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1074 | 1137 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (2) |
|
Feb 1, 2006 | RCV000009363.6 | |
Pathogenic (1) |
|
Feb 1, 2006 | RCV003984802.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024
Deletion of exon 2 from gene BMPR2.