Table 3. In silico analysis of VUS identified in BRCA1 and BRCA2 using mutation function prediction models.
Gene | HDVS cDNA | HGVS protein | SIFT | PolyPhen | Align-GVGD | Provean | Human Splicing Finder | ID |
---|---|---|---|---|---|---|---|---|
BRCA1 | c.3305A>G | p.Asn1102Ser | Tolerated | Benign | Class C0 | Deleterious | Creation of an exonic ESS site. Potential alteration of splicing. | 49 |
c.3752G>A | p.Cys1251Tyr | Tolerated | Benign | Class C0 | Neutral | Alteration of an exonic ESE site. Potential alteration of splicing. | 48 | |
BRCA2 | c.3371A>G | p.Gln1124Arg | Damaging | Probably Damaging | Class C35 | Deleterious | Activation of an exonic cryptic donor site. Potential alteration of splicing. | 24 |
c.8942A>G | p.Glu2981Gly | Tolerated | Benign | Class C65 | Neutral | ND | 12 |