Table 1.
Identified germline variants in RAD51, XRCC3, and XRCC2 genes
| Gene | Genomic location a | HGVS b | Function | rs-number | AA c | Aa d | Aa e | MAF f | 1000G-FIN MAF g |
|---|---|---|---|---|---|---|---|---|---|
| RAD51 | 15:40987528 | c.-98G > C | 5´UTR | rs1801320 | 154 | 27 | 1 | 0.080 | 0.113 |
| RAD51 | 15:40987565 | c.-61G > T | 5´UTR | rs1801321 | 103 | 56 | 23 | 0.280 | 0.312 |
| RAD51 | 15:40987568 | c.-58C > G | 5´UTR | 181 | 1 | 0 | 0.003 | ||
| RAD51 | 15:40987725 | c.-3 + 102C > T | intronic | rs3092981 | 151 | 22 | 9 | 0.110 | 0.183 |
| RAD51 | 15:40991153 | c.87 + 110A > G | intronic | rs2304579 | 153 | 28 | 1 | 0.082 | 0.113 |
| RAD51 | 15:40998303 | c.226-72delA | intronic | rs55943660 | 156 | 26 | 0 | 0.071 | 0.108 |
| RAD51 | 15:40998342 | c.226-33 T > G | intronic | rs45457497 | 136 | 43 | 3 | 0.135 | 0.129 |
| RAD51 | 15:41001187 | c.344-36 T > G | intronic | rs45455000 | 153 | 26 | 3 | 0.088 | 0.108 |
| RAD51 | 15:41020898 | c.531-12C > T | intronic | 181 | 1 | 0 | 0.003 | ||
| XRCC3 | 14:104177282 | c.55 + 88C > G | intronic | 181 | 1 | 0 | 0.003 | ||
| XRCC3 | 14:104174944 | c.108G > A | p.(=) | 181 | 1 | 0 | 0.003 | ||
| XRCC3 | 14:104174824 | c.193 + 34C > T | intronic | rs1799795 | 171 | 11 | 0 | 0.030 | 0.032 |
| XRCC3 | 14:104173300 | c.406 + 40C > T | intronic | rs374684710 | 177 | 5 | 0 | 0.014 | |
| XRCC3 | 14:104169435 | c.561 + 75G > A | intronic | 181 | 1 | 0 | 0.003 | ||
| XRCC3 | 14:104165753 | c.722C > T | p.(Thr241Met) | rs861539 | 91 | 68 | 23 | 0.313 | 0.317 |
| XRCC3 | 14:104165647 | c.774 + 54G > A | intronic | rs150986165 | 181 | 1 | 0 | 0.003 | 0.005 |
| XRCC3 | 14:104165611 | c.774 + 90G > T | intronic | 181 | 1 | 0 | 0.003 | ||
| XRCC3 | 14:104165465 | c.821 + 5G > A | intronic | 181 | 1 | 0 | 0.003 | ||
| XRCC3 | 14:104165411 | c.822-57C > T | intronic | rs17101777 | 181 | 1 | 0 | 0.003 | |
| XRCC3 | 14:104165107 | c.*28C > T | 3'UTR | 181 | 1 | 0 | 0.003 | ||
| XRCC3 | 14:104165100 | c.*35A > G | 3'UTR | 181 | 1 | 0 | 0.003 | ||
| XRCC2 | 7:152373252 | c.-88G > C | downstream | rs3218384 | 203 | 117 | 22 | 0.235 | 0.204 |
| XRCC2 | 7:152373233 | c.-69 T > G | 5'UTR | rs3218385 | 324 | 16 | 2 | 0.029 | 0.032 |
| XRCC2 | 7:152357877 | c.40-10C > T | intronic | rs3218472 | 333 | 9 | 0 | 0.013 | 0.011 |
| XRCC2 | 7:152346007 | c.563G > A | p.(Arg188His) | rs3218536 | 310 | 32 | 0 | 0.047 | 0.048 |
aThe genomic location is denoted according to NCBI37/Hg19 genome build and the variant coding refers to transcripts ENST00000267868 in RAD51, ENST00000352127 in XRCC3, and ENST00000359321 in XRCC2; bvariant description according to HGVS nomenclature; number of ccommon homozygotes, dheterozygotes, and erare homozygotes; fminor allele frequency (MAF) observed in this study; gMAF in 1000Genomes Finnish population.