Table 5 Summary of the main variants found in this clinical cohort
Gene | Mutation | Classification | Type |
|---|---|---|---|
BRCA1 (NM_007294.3) | c.441+2T>A | Pathogenic | Intronic (splice donor variant) |
c.68_69delAG: p.Glu23Valfs*17 | Pathogenic | Frameshift | |
c.5365G>T: p.Ala1789Ser | VUS | Missense | |
BRCA2 (NM_000059.3) | c.4965C>: p.Y1655* | Pathogenic | Nonsense |
c.8878C>T: p.Gln2960* | Pathogenic | Nonsense | |
c.9382C>T: p.Arg3128* | Pathogenic | Nonsense | |
c.1813dupA: p.Ile605Asnfs*11 | Pathogenic | Frameshift | |
c.9004G>A: p.Glu3002Lys | Pathogenic | Missense | |
c.8850G>T: p.Lys2950Asn | VUS | Missense | |
c.5729A>T: p.Asn1910Ile | VUS | Missense | |
c.7469T>C: p.Ile2490Thr | VUS | Missense | |
c.956A>C: p.Asn319Thr | VUS | Missense | |
c.3262C>T: p.Pro1088Ser | VUS | Missense | |
c.4183G>T: p.Ala1395Ser | VUS | Missense |