Table 5.
In silico predictions obtained for variants of unknown significance in the South African cohort
In silico prediction programs | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|
Ethnicity | Variant | Gene | Amino acid change | Occurrence | Classification | Align GVGDa | SIFT | Mutation Taster | PolyPhen | Refs |
Black | c.1843_1845delTCT | BRCA1 | p.Ser615del | 1 | 3 | - | - | - | - | [58–60] |
Black | c.4798_4800delAAT | BRCA2 | p.Asn1600del | 1 | 3 | - | - | - | - | [61] |
Black | c.7712A > G | BRCA2 | p.Glu2571Gly | 1 | 3 | C0 | Deleterious | Disease causing | Probably damaging | [62] |
Black | c.9875C > T | BRCA2 | p.Pro3292Leu | 2 | 3 | C0 | Affect protein function | Disease causing | Probably damaging | [63] |
Black | c.118A > G | PALB2 | p.Arg40Gly | 1 | 3 | C0 | Affect protein function | Polymorphism | Probably damaging | Novel |
Black | c.2845 T > C | PALB2 | p.Cys949Arg | 1 | 3 | C0 | Affect protein function | Disease causing | Probably damaging | Novel |
aSpectrum of prediction classes (C0, C15, C25, C35, C45, C55, C65) with C0 less likely to be deleterious and C65 most likely