Table 4 Unclassified sequence variants in BRCA1 gene 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 |
|---|---|---|---|---|---|---|---|
Missense changes | |||||||
212C > G | c.93C > G | I31M | G | 3/380 (0.008) | 0/80 (0.000) | yes | unknown |
462C > A | c.343C > A | P115S | A | 1/208 (0.005) | 0/80 (0.000) | no | |
1112G > C | c.993G > C | R331S | C | 2/208 (0.010) | 0/80 (0.000) | yes | unknown |
3238G > A | c.3119G > A | S1040N | A | 5/208 (0.024) | 0/80 (0.000) | yes | unknown |
3421G > A | c.3302G > A | S1101N | A | 1/208 (0.005) | 0/80 (0.000) | yes | unknown |
3573G > A | c.3454G > A | D1152N | A | 1/208 (0.005) | 0/80 (0.000) | yes | unknown |
3768T > C | c.3649T > C | S1217P | C | 1/208 (0.005) | 0/80 (0.000) | no | |
4158A > G | c.4039A > G | R1347G | G | 2/208 (0.010) | 0/80 (0.000) | yes | unknown |
4384G > A | c.4265G > A | G1422E | A | 1/208 (0.005) | 0/80 (0.000) | no | |
4675A > G | c.4556A > G | N1519S | G | 1/208 (0.005) | 0/80 (0.000) | no | |
5075G > A | c.4956G > A | M1652I | A | 3/208 (0.014) | 0/80 (0.000) | yes | unknown |
5124G > T | c.5005G > T | A1669S | T | 1/208 (0.005) | 0/80 (0.000) | yes | unknown |