Table 1. The clinically significant variants (pathogenic - VUS) identified in BRCA1 and BRCA2 genes.
| Gene | Variant annotation (hg19)* | Average VAF | Clinical significance | Remark |
|---|---|---|---|---|
| BRCA2 | chr13:g.[32932049A>GGGT] | 0.44 | Pathogenic Variants | |
| BRCA1 | chr17:g.[41209079insG] | 0.48 | Pathogenic Variants | |
| BRCA1 | chr17:g.[41228505C>A] | 0.49 | Pathogenic Variants | |
| BRCA1 | chr17:g.[41244405delC] | 0.49 | Pathogenic Variants | |
| BRCA1 | chr17:g.[41246443delC] | 0.57 | Pathogenic Variants | Tumor specific |
| BRCA1 | chr17:g.[41258471A>G] | 0.46 | Pathogenic Variants | |
| BRCA2 | chr13:g.[32890572G>A] | 0.50 | VUS | |
| BRCA2 | chr13:g.[32900437T>C] | 0.46 | VUS | |
| BRCA2 | chr13:g.[32936646T>C] | 0.48 | VUS | |
| BRCA2 | chr13:g.[32968810T>C] | 0.51 | VUS | |
| BRCA2 | chr13:g.[32972626A>T] | 0.47 | VUS | |
| BRCA2 | chr13:g.[32972629A>C] | 0.27 | VUS | Tumor specific |
| BRCA1 | chr17:g.[41222975C>T] | 0.43 | VUS | |
| BRCA1 | chr17:g.[41223048A>G] | 0.54 | VUS | |
| BRCA1 | chr17:g.[41243940C>T] | 0.41 | VUS | |
| BRCA1 | chr17:g.[41244789A>G] | 0.28 | VUS | Tumor specific |
*
following the HGVS nomenclature