From: Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients
Exon | HGVS nomenclature | BIC nomenclature | Protein nomenclature | Functional domain | Mutation type | MAF in Bulgarian patients | Analysed patients (n) | MAF in healthy controls | Analysed healthy controls (n) | MAF in Europeans |
---|---|---|---|---|---|---|---|---|---|---|
BRCA1 | ||||||||||
5 | c.139 T > G | C47G | p.Cys47Gly | ring finger | missense | 0.002 | 200 | 0.000 | 96 | NA |
8 | c.536A > G | Y179C | p.Tyr179Cys | - | missense | 0.002 | 194 | 0.000 | 96 | 0.001 |
11 | c.736 T > G | L246V | p.Leu246Val | - | missense | 0.002 | 200 | - | - | 0.002 |
11 | c. 1067A > G | Q356R | p. Gln356Arg | - | missense | 0.072 | 194 | 0.052 | 96 | 0.049 |
11 | c.1456 T > C | F486L | p.Phe486Leu | - | missense | 0.002 | 200 | - | - | 0.001 |
11 | c.1648A > C | N550H | p.Asn550His | - | missense | 0.002 | 200 | 0.00 | 96 | 0.001 |
11 | c.2077G > A | D693H | p.Asp693Asn | - | missense | 0.065 | 192 | 0.083 | 96 | 0.097 |
11 | c.2612C > T | P871L | p.Pro871Leu | - | missense | 0.350 | 193 | 0.391 | 96 | 0.336 |
11 | c.3113A > G | E1038G | p.Glu1038Gly | - | missense | 0.335 | 195 | 0.349 | 96 | 0.358 |
11 | c.3119G > A | S1040N | p.Ser1040Asn | - | missense | 0.023 | 195 | 0.026 | 96 | 0.580 |
11 | c.3548A > G | K1183R | p.Lys1183Arg | - | missense | 0.339 | 193 | 0.302 | 96 | 0.332 |
11 | c.3999 T > C | V1333A | p. Val1333Ala | AD1 | missense | 0.002 | 200 | 0.00 | 96 | - |
16 | c.4837A > G | S1613C | p.Ser1613Gly | AD2 | missense | 0.323 | 193 | 0.318 | 96 | 0.314 |
16 | c.4956G > A | M1652I | p.Met1652Ile | BRCT1/AD2 | missense | 0.036 | 193 | 0.016 | 96 | 0.005 |
9 | c.591C > T | C197C | p.Cys197= | - | cds-synon | 0.007 | 193 | 0.00 | 96 | 0.001 |
11 | c.2082C > T | S694S | p.Ser694= | - | cds-synon | 0.323 | 192 | 0.318 | 96 | 0.280 |
11 | c.2311 T > C | L771L | p.Leu771= | - | cds-synon | 0.233 | 191 | - | - | 0.332 |
13 | c.4308 T > C | S1436S | p.Ser1436= | AD1 | cds-synon | 0.337 | 194 | - | - | 0.332 |
7 | c.441 + 36_441 + 38delCTT | IVS7 + 36delCTT | - | - | IVS | 0.194 | 195 | 0.354 | 96 | NA |
8 | c.442-34C > T | IVS7-34 C > T | - | - | IVS | 0.230 | 194 | 0.224 | 96 | 0.257 |
9 | c.548-58delT | IVS8-58delT | - | - | IVS | 0.196 | 193 | 0.385 | 96 | 0.331 |
15 | c.4485-63C > G | IVS14-63C > G | - | - | IVS | 0.330 | 197 | - | - | 0.321 |
18 | c.5075-53C > T | IVS17-53 C > T | - | - | IVS | 0.010 | 194 | - | - | 0.034 |
20 | c.5277 + 56delGTA | IVS20 + 56insGTA | - | - | IVS | 0.002 | 200 | 0.00 | 96 | - |
BRCA2 | ||||||||||
10 | c.865A > C | N289H | p.Asn289His | - | missense | 0.050 | 185 | - | - | 0.031 |
10 | c.978C > A | S326R | p.Ser326Arg | - | missense | 0.010 | 185 | - | - | 0.001 |
10 | c.1114A > C | H372N | p.Asn372His | - | missense | 0.283 | 185 | - | - | 0.300 |
11 | c.2971A > G | N991D | p.Asn991Asp | - | missense | 0.050 | 185 | - | - | 0.031 |
11 | c.3515C > T | S1172L | p.Ser1172Leu | - | missense | 0.002 | 185 | 0.00 | 96 | 0.001 |
11 | c.5744C > T | T1915M | p.Thr1915Met | - | missense | 0.017 | 200 | 0.016 | 96 | 0.032 |
11 | c.6100C > T | R2034C | p.Arg2034Cys | - | missense | 0.002 | 200 | - | - | 0.018 |
11 | c.6322C > T | R2108C | p.Arg2108Cys | - | missense | 0.002 | 200 | - | - | 0.001 |
15 | c.7469 T > C | I2490T | p.Ile2490Thr | Helical Domain | missense | 0.002 | 185 | - | - | 0.000 |
23 | c.9104A > C | Y3035S | p.Tyr3035Cys | OB2 | missense | 0.005 | 200 | 0.005 | 96 | NA |
11 | c.4146_4148delAGA | E1382del | delinsAsp | - | Cds_indel | 0.002 | 200 | - | - | NA |
10 | c.1365A > G | S455S | p.Ser455= | - | Cds-synon | 0.030 | 185 | - | - | 0.031 |
11 | c.2229 T > C | H743H | p.His743= | - | Cds-synon | 0.035 | 184 | - | - | 0.031 |
11 | c.3396A > C | K1132K | p.Lys1132= | - | Cds-synon | 0.285 | 182 | - | - | 0.250 |
11 | c.3807 T > C | V1269V | p.Val1269= | - | Cds-synon | 0.189 | 185 | - | - | 0.226 |
14 | c.7242A > G | S2414S | p.Ser2414= | - | Cds-synon | 0.184 | 184 | - | - | 0.190 |
2 | c.-26G > A | 203G > A | - | - | UTR-5 | 0.247 | 190 | - | - | 0.199 |
27 | c.*105A > C | IVS27 + 104A > C | - | - | UTR-3 | 0.183 | 185 | - | - | 0.274 |
4 | c.425 + 67A > C | IVS4 + 67A > C | - | - | IVS | 0.050 | 184 | - | - | 0.031 |
4 | c.425 + 147G > T | IVS4 + 147G > T | - | - | IVS | 0.040 | 184 | - | - | 0.062 |
5_6 | c.426-89 T > C | IVS4-89 T > C | - | - | IVS | 0.040 | 184 | - | - | 0.031 |
8 | c.681 + 56C > T | IVS8 + 56C > T | - | - | IVS | 0.060 | 185 | - | - | 0.133 |
11 | c.6841 + 80_6841 + 83 | IVS11 + 80 | - | - | IVS | 0.289 | 185 | - | - | 0.294 |
delTTAA | delTTAA | |||||||||
13 | c.7007 + 134_7007 + 135 insTTATAAAAT | IVS13 + 164 delTTATAAAAT | - | - | IVS | 0.032 | 186 | - | - | 0.043 |
15 | c.7617 + 28C > A | IVS15 + 28 C > A | - | - | IVS | 0.002 | 200 | - | - | - |
17 | c.7806-14 T > C | IVS16-14 T > C | - | - | IVS | 0.320 | 187 | 0.469 | 96 | 0.465 |