Annotation Detail
Information
- Associated Genes
- CHEK2
- Associated Variants
-
CHEK2 p.Thr410MetfsTer15 (p.T410Mfs*15)
(
ENST00000348295.7,
ENST00000382580.6,
ENST00000402731.6,
ENST00000403642.5,
ENST00000404276.6,
ENST00000405598.5,
ENST00000425190.7,
ENST00000464581.6,
ENST00000649563.1,
ENST00000650281.1 )
CHEK2 p.Thr410MetfsTer15 (p.T410Mfs*15) ( ENST00000348295.7, ENST00000382580.6, ENST00000402731.6, ENST00000403642.5, ENST00000404276.6, ENST00000405598.5, ENST00000425190.7, ENST00000464581.6, ENST00000649563.1, ENST00000650281.1 ) - Associated Disease
- prostate cancer
- Source Database
- CIViC Evidence
- Description
- Meta-analysis linking CHEK2 1100delC to a higher risk of prostate cancer (OR 3.29; 95% confidence interval: 1.85-5.85; P = 0.00).
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1850
- Gene URL
- https://civic.genome.wustl.edu/links/genes/8950
- Variant URL
- https://civic.genome.wustl.edu/links/variants/785
- Rating
- 3
- Evidence Type
- Predisposing
- Disease
- Prostate Cancer
- Evidence Direction
- Supports
- Evidence Level
- B
- Clinical Significance
- Positive
- Pubmed
- 26629066
Drugs