Table 3 Variants detected using NGS targeted gene panel25,26.

From: Divergent leukaemia subclones as cellular models for testing vulnerabilities associated with gains in chromosomes 7, 8 or 18

 

Gene

Classifi-cation

Type

Chr

Coordinate

Variant

VAF (%)

MBU-7

WT1

Class 1

Nonsense

11

32417947

c.1054C > T

49.56

TP53

Class 1

Splice donor + 1

17

7578370

c.559 + 1G > A

99.69

PTPN11

Class 3A

Missense

12

112888162

c.178G > C

51.09

MBU-8

WT1

Class 1

Nonsense

11

32417947

c.1054C > T

50.17

TP53

Class 1

Splice donor + 1

17

7578370

c.559 + 1G > A

99.75

PTPN11

Class 3A

Missense

12

112888162

c.178G > C

50.63

  1. Classification52: Class 1, relevant in the clinical management of myeloid hemopathies. It has been established as a pathogenic variant in myeloid hemopathies and alters an actionable gene. Class 2, it has been established as a pathogenic variant in solid tumors or non-myeloid hemopathies and alters an actionable gene. Class 3, variant not previously described, affects an actionable gene and in silico predictors or classifies mutations as Class 3A, likely pathogenic; Class 3B, uncertain significance; Class 3C, likely benign.
  2. VAF variant allele frequency.
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