Table 1. Rare genetic variants of RAD51 identified in the BCFR.
| Variants | Effect on protein | Align-GVGD* | SIFT* | PolyPhen2.1 (HumDiv) | Cases (N = 1,330) | Controls (N = 1,123) | |
| Missense substitutions | |||||||
| c.449 G>A | p.Arg150Gln | C0 | 0.68 | Benign | 1 | 1 | |
| c.671 C>G | p.Ala224Gly | C0 | 0.03 | Poss. damaging | 0 | 1 | |
| c.976 A>G | p.Met326Val | C0 | 0.09 | Benign | 1 | 0 | |
| Silent substitutions | |||||||
| c.108 C>T | p.Asn36Asn | – | – | – | 0 | 1 | |
| c.414 T>C | p.His138His | – | – | – | 0 | 1 | |
| c.645 G>A | p.Arg215Arg | – | – | – | 0 | 1 | |
| c.720 C>G | p.Ala240Ala | – | – | – | 1 | 1 | |
| Other types of variants | |||||||
| c.-2–19 A>G | NA | – | – | – | 2 | 2 | |
| c.-1dupA | Unknown | – | – | – | 1 | 0 | |
| c.531-31 C>T | NA | – | – | – | 2 | 0 | |
| c.896+5delG | NA | – | – | – | 1 | 1 | |
| c.896+33 G>A | NA | – | – | – | 1 | 0 | |
*
A protein multiple sequence alignment (PMSA) including 15 sequences from Human to Drosophila (Dmel) was used to obtain scores for Align-GVGD and for SIFT (Median sequence conservation of 4.32 substitutions per position).
NA, not applicable.