ClinVar Genomic variation as it relates to human health
NM_001204.7(BMPR2):c.440G>A (p.Arg147Gln)
Germline
Classification
(2)
Conflicting classifications of pathogenicity
Uncertain significance(1); Benign(1)
Uncertain significance(1); Benign(1)
criteria provided, conflicting classifications
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 |
1091 | 1154 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 12, 2022 | RCV003012629.2 | |
Benign (1) |
|
Apr 10, 2023 | RCV003596229.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2024