ClinVar Genomic variation as it relates to human health
NM_001202.6(BMP4):c.954C>T (p.Ser318=)
Germline
Classification
(2)
Likely benign
criteria provided, multiple submitters, no conflicts
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 | |||
BMP4 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
201 | 226 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
May 31, 2023 | RCV003786441.1 | |
Likely benign (1) |
|
May 11, 2021 | RCV003893391.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 17, 2024