Table 4 BRCA2 gene mutation and VUS identified in our cohort
From: BRCA mutation screening and patterns among high-risk Lebanese subjects
Nucleotide Change | AA Change | Nomenclature Protein | Number of families with history of mutation |
|---|---|---|---|
Deleterious | |||
c.9257-1G > A | IVS24-1G > A | 3 | |
c.3189_3192delGTCA | p.Ser1064Leufs | 3417del4 | 1 |
c.426-12_426-8del5 | IVS4-12del5 | 1 | |
VUS | |||
c.8775G > C | p.Gln2925His | Q2925H | 1 |
c.1627C > A | p.His543Asn | H543N | 1 |
c.8687G > A | p.Arg2896His | R2896H | |
c.8548G > A | p.Glu2850Lys | E2850K | 2 |
c.632-5 T > C | IVS7-5 T > C | 1 | |
c.9117 + 3A > G | IVS23 + 3A > G | 1 | |
c.3131G > T | p.Cys1044Phe | C1044F | 1 |
c.7976 + 49A > G | IVS17 + 49A > G | 1 | |