Table 1.
VAFs detected in Case #1′s gliomas using a NGS panel
| Gene | Transcript | Exon | Genomic | cDNA | Variant classification | Primary tumor variant frequency | Recurrence tumor variant frequency |
|---|---|---|---|---|---|---|---|
| ATRX | NM_000489.3 | Ex9 | chrX:g.76937020TG>T | c.3727delC | Pathogenic | 0.82 | 0.73 |
| IDH2 | NM_002168.3 | Ex4 | chr15:g.90631838C>T | c.515G>A | Pathogenic | 0.44 | 0.33 |
| TP53 | NM_000546.5 | Ex10 | chr17:g.7574021C>A | c.1006G>T | Pathogenic | 0.45 | 0.41 |
| TP53 | NM_000546.5 | Ex6 | chr17:g.7578280G>C | c.569C>G | Pathogenic | 0.47 | 0.33 |
Notice the doubling of the ATRX VAF for this male patient compared to IDH2 and TP53 frequencies, present in autosomes