Table 2 List of rare cancer-related pathogenic variants [control minor allele frequency (MAF) below 1%]
Gene – variant | Control MAF | Case MAF | log2 MAF ratio | Summary of ClinVar and Humsavar annotations |
|---|---|---|---|---|
COL7A1 - R1538C - (3,48619779,G,A) | 0.002% | 0.07% | 5.35 | Malignant melanoma |
AKT1 - E17K - (14,105246551,C,T) | Novel | 0.08% | 4.47 | Colon, ovary and breast cancer |
FANCC - R185* - (9,97912338,G,A) | 0.006% | 0.07% | 3.76 | Fanconi anemia |
MSH6 - T955fs - (2,48030639,-,C) | 0.213% | 2.61% | 3.62 | Lynch syndrome |
ELAC2 - R741H - (17,12896274,C,T) | 0.072% | 0.23% | 1.66 | Prostate cancer |
RET - Y791F - (10,43613908,A,T) | 0.244% | 0.69% | 1.50 | MEN2A syndrome/thyroid carcinoma |
FLCN - R239C - (17,17125879,G,A) | 0.033% | 0.08% | 1.20 | Renal cell carcinoma |
PKHD1 - T36M - (6,51947999,G,A) | 0.075% | 0.15% | 0.98 | Renal cancer |
GALNT12 - D303N - (9,101594229,G,A) | 0.185% | 0.30% | 0.72 | Colorectal cancer |
PRF1 - N252S - (10,72358722,T,C) | 0.501% | 0.82% | 0.72 | Non-Hodgkin lymphoma |
SDHD - G12S - (11,111957665,G,A) | 0.992% | 1.04% | 0.07 | Cowden disease 3 |