Table 1.
Overview of All TP53 Pathogenic/Likely Pathogenic Variants With VA 5% to 15%
| Patient | gDNA | cDNA | Protein | VAF Panel A (%) | VAF Panel B (%) | Sanger Sequencing | (FISH)del(17p) |
|---|---|---|---|---|---|---|---|
| 1 | 7578413 | c.517G>T | p.V173L | 14.7 | 20.8 | Positive | NA |
| 2 | 7577610 | c.673-2A>T | p.? | 12.1 | 11.6 | Positive | Trisomy 12 |
| 2 | 7579311 | c.375 + 1G>T | p.? | 13.6 | 14.9 | NA | Trisomy 12 |
| 3 | 7577086 | c.851_852del | p.T284fs*21 | 10.1 | 11.9 | NA | del(13q) |
| 3 | 7578263 | c.586C>T | p.R196* | 11.2 | 11.7 | Inconclusive | del(13q) |
| 3 | 7579575 | c.112del | p.Q38fs*6 | 9.8 | 9.6 | NA | del(13q) |
| 4 | 7578206 | c.643A>G | p.S215G | 6.1 | 5.9 | NA | del(13q) |
| 5 | 7577559 | c.722C>A | p.S241Y | 6.6 | 5.8 | Negative | NA |
| 6 | 7577114 | c.824G>A | p.C275Y | 7.9 | 9.1 | NA | del(17p) |
| 7 | 7577121 | c.817C>T | p.R273C | 5.0 | 6.8 | NA | del(11q) |
| 8 | 7577538 | c.743G>A | p.R248Q | 5.5 | 8.1 | NA | Trisomy 12 |
| 9 | 7577538 | c.743G>A | p.R248Q | 7.2 | 8.4 | Negative | Trisomy 12 |
| 10 | 7578394 | c.536A>G | p.H179R | 9.2 | 9.8 | Inconclusive | Normal |
| 11 | 7578212 | c.637C>T | p.R213* | 8.7 | 7.1 | Negative | NA |
| 12 | 7577121 | c.580C>T | p.L194F | 11.0 | 11.2 | NA | del(13q) |
| 13 | 7577538 | c.743G>T | p.R248L | 7.7 | 6.4 | NA | Normal |
| 14 | 7577108 | c.830G>T | p.C277F | 5.7 | 6.8 | NA | del(13q)/del(11q) |
NA = not analyzed; VAF = variant allele frequency.