ClinVar Genomic variation as it relates to human health
NM_001204.7(BMPR2):c.1882A>G (p.Thr628Ala)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Uncertain Significance
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) |
|
Nov 27, 2023 | RCV002938496.2 | |
Benign (1) |
|
Nov 29, 2023 | RCV002947470.3 | |
Uncertain significance (1) |
|
May 24, 2022 | RCV003147805.1 | |
Uncertain significance (1) |
|
May 24, 2022 | RCV003147804.1 | |
Uncertain significance (1) |
|
Apr 26, 2024 | RCV004548418.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024