Table 2 Mutations in BRCA2 gene in Slovenian population.
From: The occurrence of germline BRCA1 and BRCA2sequence alterations in Slovenian population
BIC nomenclature* | HGVS nomenclature** | Protein change according to BIC database | Described in BIC database (No. of quotations in BIC) | Present in other than Slovenian population (No. of families) *** | No. of positive Slovenian families |
|---|---|---|---|---|---|
1003A > T**** | c.775A > T | R259X | no | 1 | |
1756G > T | c.1528G > T | E510X | yes (1) | 1 | |
2041insA | c.1813dupA | 615X | yes (97) | Germany (5), Czech rep (2) | 1 |
3493C > T | c.3265C > T | Q1089X | yes (1) | 1 | |
4206 ins4 (TGCT) 4203_4206dupl | c.3978insTGCT c.3975_3978dupTGCT | 1330X | yes | 3 | |
5164delGAAA | c.4936_4939delGAAA | 1668X | yes | 1 | |
5519C > G | c.5291C > G | S1764X | no | 4 | |
5579insA | c.5351insA c.5351dupA | 1786X | yes | Netherland (6) | 1 |
5837TC > AG | c.5609_5610delTCinsAG | F1870X | yes (2) | 1 | |
6719delAGTT | c.6491_6494delAGTT | 2166X | no | 1 | |
7531C > T | c.7303C > T | Q2435X | no | 1 | |
IVS16-2A > G 8064-2A > G | c.7806-2A > G | aberrant splicing | yes (5) | Germany (2 ), Italy (2) | 11 |
9514C > T | c.9286C > T | E3096X | yes (1) | no | 1 |
Total | 28 |