From: Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon
Nucleotide Change | AA change | Number of patients | Clinical Relevance (BIC) | Variation class§ | Polyphen | SIFT | Align GVGD |
---|---|---|---|---|---|---|---|
Missense variations | |||||||
250 G > T | C44F* | 2 | Unknown | 5 | +++ | Not tolerated | Class 65 |
543 C > G | P142A* | 1 | Not reported | Not reported | ++ | Not tolerated | Class 0 |
585 C > A | L156I | 1 | Not reported | 3 | + | Not tolerated | Class 0 |
655A > G | Y179C† | 2 | Unknown | 1 | +++ | Not tolerated | Class 45 |
1186A > G | Q356R | 19 | Unknown | 1 | +++ | Not tolerated | Class 0 |
1575 T > C | F486L† | 2 | Unknown | 1 | + | Tolerated | Class 0 |
1767A > C | N550H† | 2 | Unknown | 1 | ++ | Not tolerated | Class 0 |
2196 G > A | D693N | 11 | No effect | 1 | + | Not tolerated | Class 0 |
2577A > G | K820E | 1 | Unknown | 1 | + | Tolerated | Class 0 |
2731 C > T | P871L | 47 | No effect | 1 | + | Tolerated | Class 0 |
3232A > G | E1038G | 44 | No effect | 1 | + | Not tolerated | Class 0 |
3238 G > A | S1040N | 2 | Unknown | 1 | + | Tolerated | Class 0 |
3646 T > A | V1176I | 1 | Unknown | Not reported | + | Tolerated | Class 0 |
3667A > G | K1183R | 43 | No effect | 1 | + | Tolerated | Class 0 |
4755 G > A | D1546N | 1 | Unknown | 1 | + | Tolerated | Class 0 |
4773 T > C | Y1552H | 1 | Not reported | 3 | ++ | Tolerated | Class 0 |
4956A > G | S1613G | 45 | No effect | 1 | + | Not tolerated | Class 0 |
5075 G > A | M1652I | 2 | Unknown | 1 | + | Tolerated | Class 0 |
Nonsense mutations | |||||||
5563 G > A | W1815X | 2 | Deleterious | 5 | |||
Synonyms | |||||||
1964 T > C | S615S | 2 | Not reported | Not reported | |||
2201 C > T | S694S | 47 | No effect | 1 | |||
2430 T > C | L771L | 45 | No effect | 1 | |||
4427 T > C | S1436S | 44 | Unknown | 1 | |||
5306 G > C | L1729L | 1 | Not reported | Not reported | |||
UTRs and Intronic variations | |||||||
66-67delTA | 5’-UTR | 29 | Not reported | Not reported | |||
IVS2-91A > G | 1 | Not reported | Not reported | ||||
IVS5 + 45 T > A | 1 | Not reported | Not reported | ||||
IVS6 + 55 G > A | 2 | Not reported | 3 | ||||
IVS7 + 15delTTC | 6 | Not reported | Not reported | ||||
IVS7-34 C > T | 17 | No effect | 1 | ||||
IVS8-58delT | 10 | No effect | 1 | ||||
IVS11 + 106 G > A | 64 | Not reported | Not reported | ||||
IVS13 + 117 G > A | 8 | Unknown | Not reported | ||||
IVS14-63 C > G | 25 | Not reported | Not reported | ||||
IVS18 + 66 G > A | 44 | No effect | 1 | ||||
IVS19-26 G > A | 2 | Not reported | Not reported | ||||
IVS22 + 68 T > C | 1 | Unknown | 3 | ||||
c.5711 + 36 C > G | 3’-UTR | 1 | Not reported | Not reported |