Characteristics of TP53 mutations
| Patient ID . | Mutated protein or cDNA description . | Effect . | VAF (%) . | Transcriptional activity class (missense) . | Functional classification (missense) . | Other details (nonmissense) . | Classification by reporting laboratory . | Known LOF mutation . |
|---|---|---|---|---|---|---|---|---|
| 1 | TP53 p.Y220N | Missense | <7 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 13 | TP53 p.R181H | Missense | 23 | Partially functional | Unclassified | — | Disease-associated variant | No |
| 16 | TP53 p.Y234del | Other | 84 | — | — | In-frame deletion, exon 7 | Variant of uncertain significance | No |
| 18 | TP53 p.R273C | Missense | 71 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 20 | TP53 p.C141G | Missense | 75 | Nonfunctional | LOF | — | Variant of uncertain significance | Yes |
| 23 | TP53 p.R273C | Missense | 45 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 23 | TP53 p.S215R | Missense | 37 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 24 | TP53 p.I232S | Missense | 84 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 25 | TP53 p.R273H | Missense | <7 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 27 | TP53 p.F134V | Missense | 20 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 29 | TP53 p.C238Y | Missense | 40 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 31 | TP53 p.Q317K | Missense | 14 | Functional | Not LOF | — | Variant of uncertain significance | No |
| 34 | TP53 p.W53∗ | Nonsense | 76 | — | — | Premature termination of coding sequence, exon 4 | Disease-associated variant | Yes |
| 35 | TP53 p.N263D | Missense | 38 | Partially functional | Not LOF | — | Variant of uncertain significance | No |
| 38 | TP53 p.C238R | Missense | 18 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 42 | TP53 c.375+2T>A | Splice site | 44 | — | — | Donor splice site, intron 4 | Disease-associated variant | Yes |
| 43 | TP53 p.Y234H | Missense | 22 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 45 | TP53 p.L93Vfs∗55 | Frameshift | 36 | — | — | 2-nucleotide deletion, exon 4 | Disease-associated variant | Yes |
| 45 | TP53 p.K305Nfs∗8 | Frameshift | 37 | — | — | 22 nucleotide insertion, exon 8 | Disease-associated variant | Yes |
| 47 | TP53 p.S33F | Missense | 20 | Functional | Not LOF | — | Variant of uncertain significance | No |
| 48 | TP53 p.P278S | Missense | 36 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 50 | TP53 p.A159V | Missense | 30 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 51 | TP53 p.V274A | Missense | 76 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 53 | TP53 p.I232N | Missense | 46 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 53 | TP53 p.I254T | Missense | 43 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 59 | TP53 p.Q144∗ | Nonsense | 21 | — | — | Premature termination of coding sequence, exon 5 | Disease-associated variant | Yes |
| 59 | TP53 p.P27Rfs∗15 | Frameshift | 22 | — | — | 2-nucleotide deletion, exon 3 | Disease-associated variant | Yes |
| 61 | TP53 p.T231Hfs∗9 | Frameshift | 45 | — | — | 1-nucleotide insertion, exon 7 | Disease-associated variant | Yes |
| 64 | TP53 p.G187S | Missense | 23 | Functional | Not LOF | — | Disease-associated variant | No |
| 65 | TP53 p.Q165∗ | Nonsense | 33 | — | — | Premature termination of coding sequence, exon 5 | Disease-associated variant | Yes |
| 65 | TP53 p.N131Lfs∗28 | Frameshift | 34 | — | — | 33-nucleotide deletion, exon 5 | Disease-associated variant | Yes |
| 70 | TP53 p.Q136E | Missense | 20 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 76 | TP53 c.994-1G>A | Splice site | 62 | — | — | Acceptor splice site, exon 9 | Disease-associated variant | Yes |
| 78 | TP53 p.T211P | Missense | <12 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 83 | TP53 p.P72H | Missense | 16 | Not applicable | Not applicable | — | Variant of uncertain significance | No |
| 86 | TP53 p.I251N | Missense | <12 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 89 | TP53 p.Q192∗ | Nonsense | 78 | — | — | Premature termination of coding sequence, exon 6 | Disease-associated variant | Yes |
| 95 | TP53 p.C275Y | Missense | 57 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 96 | TP53 p.R248Q | Missense | 35 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 96 | TP53 p.R196∗ | Nonsense | 30 | — | — | Premature termination of coding sequence, exon 6 | Disease-associated variant | Yes |
| 100 | TP53 p.Y236C | Missense | 31 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 100 | TP53 p.A161D | Missense | 35 | Nonfunctional | Unclassified | — | Disease-associated variant | Yes |
| 106 | TP53 p.C135F | Missense | 49 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 108 | TP53 p.R337C | Missense | 19 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 109 | TP53 p.R175H | Missense | 32 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 113 | TP53 p.C135Y | Missense | 40 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 116 | TP53 p.L194R | Missense | 25 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 118 | TP53 p.Y205C | Missense | 70 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 120 | TP53 p.N247Tfs∗95 | Frameshift | 51 | — | — | 10-nucleotide deletion, exon 7 | Disease-associated variant | Yes |
| Patient ID . | Mutated protein or cDNA description . | Effect . | VAF (%) . | Transcriptional activity class (missense) . | Functional classification (missense) . | Other details (nonmissense) . | Classification by reporting laboratory . | Known LOF mutation . |
|---|---|---|---|---|---|---|---|---|
| 1 | TP53 p.Y220N | Missense | <7 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 13 | TP53 p.R181H | Missense | 23 | Partially functional | Unclassified | — | Disease-associated variant | No |
| 16 | TP53 p.Y234del | Other | 84 | — | — | In-frame deletion, exon 7 | Variant of uncertain significance | No |
| 18 | TP53 p.R273C | Missense | 71 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 20 | TP53 p.C141G | Missense | 75 | Nonfunctional | LOF | — | Variant of uncertain significance | Yes |
| 23 | TP53 p.R273C | Missense | 45 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 23 | TP53 p.S215R | Missense | 37 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 24 | TP53 p.I232S | Missense | 84 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 25 | TP53 p.R273H | Missense | <7 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 27 | TP53 p.F134V | Missense | 20 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 29 | TP53 p.C238Y | Missense | 40 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 31 | TP53 p.Q317K | Missense | 14 | Functional | Not LOF | — | Variant of uncertain significance | No |
| 34 | TP53 p.W53∗ | Nonsense | 76 | — | — | Premature termination of coding sequence, exon 4 | Disease-associated variant | Yes |
| 35 | TP53 p.N263D | Missense | 38 | Partially functional | Not LOF | — | Variant of uncertain significance | No |
| 38 | TP53 p.C238R | Missense | 18 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 42 | TP53 c.375+2T>A | Splice site | 44 | — | — | Donor splice site, intron 4 | Disease-associated variant | Yes |
| 43 | TP53 p.Y234H | Missense | 22 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 45 | TP53 p.L93Vfs∗55 | Frameshift | 36 | — | — | 2-nucleotide deletion, exon 4 | Disease-associated variant | Yes |
| 45 | TP53 p.K305Nfs∗8 | Frameshift | 37 | — | — | 22 nucleotide insertion, exon 8 | Disease-associated variant | Yes |
| 47 | TP53 p.S33F | Missense | 20 | Functional | Not LOF | — | Variant of uncertain significance | No |
| 48 | TP53 p.P278S | Missense | 36 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 50 | TP53 p.A159V | Missense | 30 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 51 | TP53 p.V274A | Missense | 76 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 53 | TP53 p.I232N | Missense | 46 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 53 | TP53 p.I254T | Missense | 43 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 59 | TP53 p.Q144∗ | Nonsense | 21 | — | — | Premature termination of coding sequence, exon 5 | Disease-associated variant | Yes |
| 59 | TP53 p.P27Rfs∗15 | Frameshift | 22 | — | — | 2-nucleotide deletion, exon 3 | Disease-associated variant | Yes |
| 61 | TP53 p.T231Hfs∗9 | Frameshift | 45 | — | — | 1-nucleotide insertion, exon 7 | Disease-associated variant | Yes |
| 64 | TP53 p.G187S | Missense | 23 | Functional | Not LOF | — | Disease-associated variant | No |
| 65 | TP53 p.Q165∗ | Nonsense | 33 | — | — | Premature termination of coding sequence, exon 5 | Disease-associated variant | Yes |
| 65 | TP53 p.N131Lfs∗28 | Frameshift | 34 | — | — | 33-nucleotide deletion, exon 5 | Disease-associated variant | Yes |
| 70 | TP53 p.Q136E | Missense | 20 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 76 | TP53 c.994-1G>A | Splice site | 62 | — | — | Acceptor splice site, exon 9 | Disease-associated variant | Yes |
| 78 | TP53 p.T211P | Missense | <12 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 83 | TP53 p.P72H | Missense | 16 | Not applicable | Not applicable | — | Variant of uncertain significance | No |
| 86 | TP53 p.I251N | Missense | <12 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 89 | TP53 p.Q192∗ | Nonsense | 78 | — | — | Premature termination of coding sequence, exon 6 | Disease-associated variant | Yes |
| 95 | TP53 p.C275Y | Missense | 57 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 96 | TP53 p.R248Q | Missense | 35 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 96 | TP53 p.R196∗ | Nonsense | 30 | — | — | Premature termination of coding sequence, exon 6 | Disease-associated variant | Yes |
| 100 | TP53 p.Y236C | Missense | 31 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 100 | TP53 p.A161D | Missense | 35 | Nonfunctional | Unclassified | — | Disease-associated variant | Yes |
| 106 | TP53 p.C135F | Missense | 49 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 108 | TP53 p.R337C | Missense | 19 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 109 | TP53 p.R175H | Missense | 32 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 113 | TP53 p.C135Y | Missense | 40 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 116 | TP53 p.L194R | Missense | 25 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 118 | TP53 p.Y205C | Missense | 70 | Nonfunctional | LOF | — | Disease-associated variant | Yes |
| 120 | TP53 p.N247Tfs∗95 | Frameshift | 51 | — | — | 10-nucleotide deletion, exon 7 | Disease-associated variant | Yes |
cDNA, complementary DNA.