Table 3 Polymorphisms in BRCA1 and BRCA2 genes in Slovenian population.
From: The occurrence of germline BRCA1 and BRCA2sequence alterations in Slovenian population
BIC nomenclature* | HGVS nomenclature** | Protein change | Allele | No. of alleles/all alleles of tested probands (allele frequencies) | No. of alleles/all alleles of tested healthy individuals (allele frequencies) | Described in BIC database | Clinical importance entered in BIC database (allele frequencies) |
|---|---|---|---|---|---|---|---|
BRCA1 | |||||||
710 C > T | c.591C > T | C197C | T | 1/380 (0.003) | 0/80 (0.000) | yes | no (0.02) |
1186A > G | c.1067A > G | Q356R | G | 25/380 (0.065) | 6/80 (0.075) | yes | no (0.06) |
2196G > A | c.2077G > A | D693N | A | 6/208 (0.029) | 4/80 (0.050) | yes | no (0.08) |
2201C > T | c.2082C > T | S694S | T | 66/208 (0.32) | 25/80 (0.31) | yes | no (0.31) |
2430T > C | c.2311T > C | L771L | C | 66/208 (0.32) | 25/80 (0.31) | yes | no (0.31) |
2731C > T | c.2612C > T | P871L | T | 66/208 (0.32) | 25/80 (0.31) | yes | no (0.34) |
3232A > G | c.3113A > G | E1038G | G | 66/208 (0.32) | 25/80 (0.31) | yes | no (0.31) |
3667A > G | c.3548A > G | K1183G | G | 66/208 (0.32) | 25/80 (0.31) | yes | no (0.31) |
4427T > C | c.4308T > C | F1436S | C | 66/208 (0.32) | 25/80 (0.31) | yes | no (0.31) |
4956A > G | c.4837A > G | S1613G | G | 66/208 (0.32) | 25/80 (0.31) | yes | no (0.31) |
BRCA2 | |||||||
203G > A | c.1-25G > A | 5'-UTR | A | 66/208 (0.32) | 25/80 (0.31) | yes | no (0.25) |
1093A > C | c.865A > C | N289H | C | 18/380 (0.047) | 3/80 (0.038) | yes | no (?) |
1342C > A | c.1114C > A | H372N | A | 160/208 (0.77) | 56/80 (0.70) | yes | no (0.72) |
1379C > T | c.1151C > T | S384F | T | 1/208 (0.005) | 0/80 (0.000) | yes | no (?) |
1593A > G | c.1365A > G | S455S | G | 7/208 (0.034) | 3/80 (0.038) | yes | no (0.01) |
2020A > G | c.1792A > G | T598A | G | 4/208 (0.019) | 0/80 (0.000) | yes | no (?) |
2457T > C | c.2229T > C | H743H | C | 18/380 (0.047) | 5/80 (0.063) | yes | no (?) |
3199A > G | c.2971A > G | N991D | G | 7/208 (0.034) | 3/80 (0.038) | yes | no (?) |
3624A > G | c.3396A > G | L1132L | G | 73/208 (0.35) | 38/80 (0.48) | yes | no (0.31) |
4035T > C | c.3807T > C | V1269V | C | 27/208 (0.130) | 18/80 (0.225) | yes | no (0.19) |
4486G > T | c.4258G > T | D1420Y | T | 3/208 (0.014) | 0/80 (0.000) | yes | no (?) |
5427C > T | c.5199C > T | S1733S | T | 4/208 (0.019) | 4/80 (0.050) | yes | no (?) |
7470A > G | c.7242A > G | S2414S | G | 57/208 (0.27) | 21/80 (0.26) | yes | no (0.21) |
8034-14C > T | c.7806-14C > T | intron | T | 95/208 (0.46) | 33/80 (0.41) | yes | no (0.50) |
8410G > A | c.8182G > A | V2728I | A | 1/208 (0.005) | 1/80 (0.013) | yes | no (?) |
10323delCins11 | 10095delCins11 | 3369X | del | 3/380 (0.008) | 0/80 (0.000) | yes | no (?) |