ClinVar Genomic variation as it relates to human health
NM_001003694.2(BRPF1):c.1445A>C (p.Lys482Thr)
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
BRPF1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
309 | 367 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
BRPF1-related disorder
|
Uncertain significance (1) |
|
May 6, 2023 | RCV003408346.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 27, 2024