Table 3. Novel variants in BRCA1/2 with probably deleterious effect from the in silico analysis detected in 940 probands with personal and/or family history of breast/ovary cancer.
| ID | Exon/ Intron | Mutation | HGVS cDNA | HGVS protein | PH (age) | FH (1st and/or 2nd degree) | Align GVGD | PolyPhen | SIFT |
|---|---|---|---|---|---|---|---|---|---|
| BRCA1 | |||||||||
| AB0392 | 14i | Splice defect | c.4484+3A>G ª | Br (40) | Br | ||||
| AB0081U | 7 | Missense | c.341C>G | p.Ser114Cys | Br (45) | Br; Co | Class C0 | Possibly damaging | Afect protein function |
| BRCA2 | |||||||||
| AB0376 | 14 | In Frame del | c.7426_7428delGAA | p.Glu2476del | Br (39) | NO | |||
| AB0402 | 10 | Missense | c.1277A>C | p.Lys426Thr | Br (42) | Br | Class C0 | Possibly damaging | Afect protein function |
| AB0185 | 11 | Missense | c.3316A>G | p.Ser1106Gly | Healthy (43) | Br, Gastric | Class C0 | Probably damaging | Afect protein function |
| AB0231 | 14 | Missense | c.7159G>C | p.Ala2387Pro | Healthy (46) | Br, Ov | Class C0 | Possibly damaging | Afect protein function |
| AB0258 | 18 | Missense | c.8038G>A | p.Asp2680Asn | Br (37) | Br | Class C0 | Probably damaging | Afect protein function |
| AB0435 | 27 | Missense | c.9794G>A | p.Cys3265Tyr | Br (50 & 52) | NO | Class C0 | Possibly damaging | Afect protein function |
PH: Personal historyof cancer; FH: Family historyof cancer; Br: Breast; Ov: Ovary; Co: colon.
ª: coexistent with in BRCA2 c.8021delA, p.Lys2674Argfs -also novel-.
Age range at first diagnostic: 37-50 years; mean+SD=42.17+4.71(n=6)