TP53 variants detected in B-ALL samples
| Sample . | TP53 variant . | HGVSc (ENST00000269305.8) . | HGVSp (ENSP00000269305.4) . | ClinVar variation ID . | ClinVar interpretation (review status)∗ . | VAF (sequencing) . | TP53 variant observed . | Elevated TP53 IHC staining observed (% cells) . |
|---|---|---|---|---|---|---|---|---|
| GTB-1 | SNV | c.710T>A | p.Met237Lys | 376636 | Likely pathogenic (0-star) | 66.8%/35% | Yes | Yes (91%) |
| GTB-2 | SNV | c.659A>G | p.Tyr220Cys | 127819 | Pathogenic (3-star) | 21.0% | Yes | Yes (70%) |
| GTB-3 | SNV | c.817C>T | p.Arg273Cys | 43594 | Pathogenic/likely pathogenic (2-star) | 65.8% | Yes | Yes (88%) |
| FISH monosomy 17 | -- | -- | -- | Pathogenic | -- | |||
| GTB-4 | SNV | c.827C>A | p.Ala276Asp | 232683 | Likely pathogenic (2-star) | 19.0% | Yes | Yes (68%) |
| GTB-5 | FISH monosomy 17 | -- | -- | -- | -- | -- | Yes | No (1%) |
| GTB-6 | -- | -- | -- | -- | -- | -- | No | No (2%) |
| GTB-7 | Cytogenetics 17p deletion | -- | -- | -- | -- | -- | Yes | No (15%) |
| GTB-8 | SNV | c.452C>G | p.Pro151Arg | 376640 | Pathogenic (1-star) | 57.4% | Yes | Yes (42%) |
| GTB-9 | SNV | c.527G>A | p.Cys176Tyr | 186451 | Pathogenic (2-star) | 30.0% | Yes | Yes (53%) |
| GTB-10 | SNV | c.515T>A | p.Val172Asp | 836761 | Uncertain significance (1-star) | 89.2% | Yes | Yes (43%) |
| GTB-11 | SNV | c.422G>A | p.Cys141Tyr | 140801 | Pathogenic (2-star) | 49.1% | Yes | Yes (68%) |
| FISH 17 monosomy | -- | -- | -- | Pathogenic | -- | |||
| GTB-12 | -- | -- | -- | -- | -- | -- | No | No (2%) |
| GTB-13 | SNV | c.485T>A | p.Ile162Asn | N/A | N/A | 84.9% | Yes | Yes (56%) |
| GTB-14 | Cytogenetics 17p deletion | -- | -- | -- | -- | -- | Yes | No (1%) |
| GTB-15 | SNV | c.488A>G | p.Tyr163Cys | 127814 | Pathogenic (3-star) | 45% | Yes | Yes (64%) |
| GTB-16 | SNV | c.530C>A | p.Pro177His | 956854 | Uncertain significance (1-star) | 2% | Yes | No (2%) |
| GTB-17 | -- | -- | -- | -- | -- | -- | No | No (1%) |
| Sample . | TP53 variant . | HGVSc (ENST00000269305.8) . | HGVSp (ENSP00000269305.4) . | ClinVar variation ID . | ClinVar interpretation (review status)∗ . | VAF (sequencing) . | TP53 variant observed . | Elevated TP53 IHC staining observed (% cells) . |
|---|---|---|---|---|---|---|---|---|
| GTB-1 | SNV | c.710T>A | p.Met237Lys | 376636 | Likely pathogenic (0-star) | 66.8%/35% | Yes | Yes (91%) |
| GTB-2 | SNV | c.659A>G | p.Tyr220Cys | 127819 | Pathogenic (3-star) | 21.0% | Yes | Yes (70%) |
| GTB-3 | SNV | c.817C>T | p.Arg273Cys | 43594 | Pathogenic/likely pathogenic (2-star) | 65.8% | Yes | Yes (88%) |
| FISH monosomy 17 | -- | -- | -- | Pathogenic | -- | |||
| GTB-4 | SNV | c.827C>A | p.Ala276Asp | 232683 | Likely pathogenic (2-star) | 19.0% | Yes | Yes (68%) |
| GTB-5 | FISH monosomy 17 | -- | -- | -- | -- | -- | Yes | No (1%) |
| GTB-6 | -- | -- | -- | -- | -- | -- | No | No (2%) |
| GTB-7 | Cytogenetics 17p deletion | -- | -- | -- | -- | -- | Yes | No (15%) |
| GTB-8 | SNV | c.452C>G | p.Pro151Arg | 376640 | Pathogenic (1-star) | 57.4% | Yes | Yes (42%) |
| GTB-9 | SNV | c.527G>A | p.Cys176Tyr | 186451 | Pathogenic (2-star) | 30.0% | Yes | Yes (53%) |
| GTB-10 | SNV | c.515T>A | p.Val172Asp | 836761 | Uncertain significance (1-star) | 89.2% | Yes | Yes (43%) |
| GTB-11 | SNV | c.422G>A | p.Cys141Tyr | 140801 | Pathogenic (2-star) | 49.1% | Yes | Yes (68%) |
| FISH 17 monosomy | -- | -- | -- | Pathogenic | -- | |||
| GTB-12 | -- | -- | -- | -- | -- | -- | No | No (2%) |
| GTB-13 | SNV | c.485T>A | p.Ile162Asn | N/A | N/A | 84.9% | Yes | Yes (56%) |
| GTB-14 | Cytogenetics 17p deletion | -- | -- | -- | -- | -- | Yes | No (1%) |
| GTB-15 | SNV | c.488A>G | p.Tyr163Cys | 127814 | Pathogenic (3-star) | 45% | Yes | Yes (64%) |
| GTB-16 | SNV | c.530C>A | p.Pro177His | 956854 | Uncertain significance (1-star) | 2% | Yes | No (2%) |
| GTB-17 | -- | -- | -- | -- | -- | -- | No | No (1%) |
Each row represents a unique variant observed across all 17 samples. Clinical annotations are provided. VAF is provided for SNVs. IHC staining for TP53 and total percent of cells expressing the protein are also provided.
Interpretation summary from ClinVar as of 2/15/2022.