Skip to main content


Table 5 Summary of the main variants found in this clinical cohort

From: Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology

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