Table 2 Sequence variants identified in the BRCA2 gene
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 |
|---|---|---|---|---|---|---|---|
Frameshift mutations | |||||||
5804_5808delTTAA | I1859KfsX3 | 1 | Deleterious | 5 | |||
c.9485-1 G > A* | 1 | Not reported | Not reported | ||||
Missense variations | |||||||
353A > G | Y42C | 1 | Unknown | 1 | +++ | Tolerated | Class 0 |
1093A > C | N289H | 6 | No effect | 1 | + | Not tolerated | Class 0 |
1342A > C | N372H | 20 | No effect | 1 | + | Tolerated | Class 0 |
3199A > G | N991D | 2 | Unknown | 1 | ++ | Tolerated | Class 0 |
5972 C > T | T1915M | 2 | Unknown | 1 | ++ | Tolerated | Class 0 |
6359 G > C | G2044A | 1 | Unknown | 3 | + | Tolerated | Class 0 |
6550 C > T | R2108C | 1 | Unknown | 3 | +++ | Tolerated | Class 0 |
7625 C > T | A2466V | 26 | Unknown | 1 | + | Not tolerated | Class 0 |
9079 G > A | A2951T | 1 | No effect | 2 | + | Not tolerated | Class 55 |
Nonsense mutations | |||||||
10204A > T | K3326X | 1 | No effect | 1 | |||
Synonyms | |||||||
1593A > G | S455S | 6 | No effect | 1 | |||
2457 T > C | H743H | 6 | Unknown | 1 | |||
3624A > G | K1132K | 16 | No effect | 1 | |||
4035 T > C | V1269V | 13 | No effect | 1 | |||
4791A > G | L1521L | 38 | No effect | 2 | |||
5718 C > T | S1830S | 1 | Not reported | Not reported | |||
6741 C > G | V2171V | 38 | Unknown | 1 | |||
7470A > G | S2414S | 13 | No effect | 1 | |||
10338 G > A | R3370R | 1 | Unknown | 1 | |||
UTRs and Intronic variations | |||||||
203 G > A | 5’UTR | 16 | No effect | Not reported | |||
IVS4 + 67A > C | 6 | Unknown | 1 | ||||
IVS4 + 147 G > T | 4 | Not reported | Not reported | ||||
IVS6 + 14 C > T | 1 | Unknown | 3 | ||||
IVS7 + 183 T > A | 21 | Not reported | 1 | ||||
IVS7-9A > G | 1 | Unknown | Not reported | ||||
IVS8 + 56 C > T | 8 | Unknown | 1 | ||||
IVS10-34 C > A | 1 | Not reported | 3 | ||||
IVS10-51 G > T | 1 | Not reported | 1 | ||||
IVS11 + 80delTTAA | 10 | Unknown | 3 | ||||
IVS12-120 T > C | 37 | Not reported | 3 | ||||
IVS13 + 133insATTATAAAA | 5 | Not reported | Not reported | ||||
IVS13 + 273 G > A | 2 | Not reported | Not reported | ||||
IVS14 + 53 C > T | 4 | No effect | Not reported | ||||
IVS16-14 T > C | 25 | No effect | 1 | ||||
IVS21-66 T > C | 25 | No effect | 1 | ||||
IVS22 + 53 C > G | 1 | Not reported | Not reported | ||||
IVS24-16 T > C | 1 | Unknown | 1 | ||||
10485 + 105A > C | 3’UTR | 15 | Not reported | Not reported | |||