ClinVar Genomic variation as it relates to human health
NM_001379291.1(BRD4):c.3336G>A (p.Glu1112=)
Germline
Classification
(2)
Benign/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 | |||
BRD4 | - | - |
GRCh38 GRCh37 |
614 | 634 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Jan 21, 2024 | RCV002949000.2 | |
BRD4-related disorder
|
Likely benign (1) |
|
Mar 11, 2019 | RCV003963486.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024