Table 1 Variants reported in five categories according to the HGMD Professional
From: Next-generation sequencing in familial breast cancer patients from Lebanon
Category | Category | Variation reported as |
|---|---|---|
DM | Disease-causing mutations | Pathological mutation |
DM? | Disease-causing mutations | Likely pathological mutation |
DP | Disease-associated polymorphism | Polymorphism in significant association with a disease/phenotype (p < 0.05) that is assumed to be functional |
DFP | Disease-associated polymorphism | Polymorphism in significant association with disease (p < 0.05) that has evidence of being of direct functional importance |
FP | In vitro/laboratory or in vivo functional polymorphism | Polymorphism that affects the structure, function or expression of the gene (or gene product), but with no disease association reported as yet |