Table 1 Summay of previous evolutionary studies in DDR gene variation
From: Pathogenic variants in human DNA damage repair genes mostly arose in recent human history
Class (ClinVar) | Number of variants in the affected DDR genes | Total (%) | |||||
|---|---|---|---|---|---|---|---|
BRCA1 | BRCA2 | XPC | XPA | RAD51 | POLD1 | ||
Pathogenic | 4 | 1 | 9 | 3 | 1 | 0 | 18 (14.2) |
Benign | 36 | 8 | 0 | 0 | 0 | 0 | 44 (34.6) |
Uncertain significance | 45 | 2 | 0 | 0 | 0 | 1 | 48 (37.8) |
Conflicting interpretations | 12 | 2 | 0 | 0 | 1 | 0 | 15 (11.8) |
Not provided | 1 | 1 | 0 | 0 | 0 | 0 | 2 (1.6) |
Total (%) | 98 (77.2) | 14 (11.0) | 9 (7.1) | 3 (2.4) | 2 (1.6) | 1 (0.8) | 127 (100) |