Annotation Detail
Information
- Associated Genes
- BAP1
- Associated Variants
-
BAP1 p.Thr613Met (p.T613M)
(
ENST00000296288.9,
ENST00000460680.6 )
BAP1 p.Thr613Met (p.T613M) ( ENST00000296288.9, ENST00000460680.6 ) - Associated Disease
- BAP1-related tumor predisposition syndrome
- Source Database
- ClinVar
- Description
- NM_004656.4(BAP1):c.1838C>T (p.Thr613Met) AND BAP1-related tumor predisposition syndrome
- ClinVar Allele ID
- 137404
- ClinVar RefSeq Alternation Syntax
- NM_004656.4:c.1838C>T
- Clinical Significance Description
- Benign/Likely benign
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000229226
- ClinVar Disease
- BAP1-related tumor predisposition syndrome
- Observed Origin Sample
- germline
Drugs