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. 2021 Jul 8;76:e2837. doi: 10.6061/clinics/2021/e2837

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