Table 2. M1 and M10 RAD51C variants.
RAD51C variants identified on ClinVar and gnomAD. The variants in black text were analyzed in this study whereas the variants in grey text were excluded from analysis since they were recently added to ClinVar. The variant, nucleotide change, population frequency from gnomAD, the number of affected individuals, and variant source are shown. Table last updated 8/25/23.
| Variant | Nucleotide Change | Population Frequency | Affected Individuals | Cancer Type | Source |
|---|---|---|---|---|---|
| M1I | 3G>C 3G>A 3G>T |
- 3.19 × 10−5 - |
1 7 7 |
Not listed Breast Breast, Ovarian |
ClinVar ClinVar, gnomAD, [22] ClinVar, [23] |
| M1L | 1A>T | - | 3 | ClinVar | |
| M1V | 1A>G | - | 4 | ClinVar | |
| M1T | 2T>C | - | 1 | ClinVar | |
| M10I | 30G>T 30G>A |
3.98 × 10−6 3.98 × 10−6 |
3 1 |
ClinVar, gnomAD ClinVar, gnomAD |
|
| M10K | 29T>A | - | 1 | ClinVar | |
| M10L | 28A>T | 3.19 × 10−5 | 5 | Breast | ClinVar, gnomAD, [24] |
| M10R | 29T>G | 7.95 × 10−5 | 11 | Breast, Ovarian | ClinVar, gnomAD, [25], [26], [27], [28] |
| M10T | 29T>C | - | 1 | ClinVar | |
| M10V | 28A>G | - | 2 | ClinVar |