ClinVar Genomic variation as it relates to human health
NM_001379291.1(BRD4):c.1289A>G (p.Tyr430Cys)
Germline
Classification
(3)
Likely pathogenic
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 | |||
BRD4 | - | - |
GRCh38 GRCh37 |
614 | 634 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Jan 5, 2021 | RCV003151935.1 |
Likely pathogenic (2) |
|
Mar 3, 2024 | RCV003448989.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 23, 2024