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Table 1 Identified germline variants in RAD51, XRCC3, and XRCC2 genes

From: RAD51, XRCC3, and XRCC2 mutation screening in Finnish breast cancer families

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
  1. 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.