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Table 3.

Mutations of BTK and PLCG2 genes

Subject Gene Exon AA change WT codon MT codon* Previously reported VAF, %
PD1 Not tested
PD2 Not tested
PD3 BTK 15 C481S TGC TCC Yes §
PLCG2 20 6NT deletion No §
PD4 None detected
PD5 None detected
PD6 PLCG2 19 R665W CGG TGG Yes 0.11
PD7 PLCG2 19 R665W CGG TGG Yes ND
PLCG2 19 P664S CCC TCC No ND
PD8 BTK 15 C481S TGC TCC Yes 78.2
PLCG2 19 R665W CGG TGG Yes 0.26
PLCG2 20 S707Y TCC TAC Yes 0.17
PLCG2 24 L845F TTA TTT Yes 4.7
PD9 BTK 15 C481S TGC TCC Yes 8.8
BTK 15 C481S TGC AGC Yes 7.2
BTK 15 C481R TGC CGC Yes 15.8
PLCG2 19 R665W CGG TGG Yes 7.3
PLCG2 24 L845F TTA TTT Yes 18.3
PD10 BTK 15 C481S TGC TCC Yes 1.6
PLCG2 19 R665W CGG TGG Yes 0.1
PD11 BTK 15 C481S TGC TCC Yes 57.3
PD12 None detected
PD13 BTK 15 C481S TGC TCC Yes 32.6
PLCG2 20 6NT deletion No ND
PD14 None detected
PD15 BTK 15 C481S TGC TCC Yes 2.2

—, not applicable; AA, amino acid; MT, mutant; ND, not detected; NT, nucleotide; WT, wild type.

*

Mutations were detected by Sanger sequencing or NGS as described in “Patients, materials, and methods.”

Estimated VAFs were determined by ddPCR. Specificities for VAFs <1% were tested in normal donor samples and were: 83.3% (PD6, PD10) for PLCG2 R665W and 100% (PD8) for PLCG2 S707Y.

Male patients with 1 X-chromosomal BTK allele.

§

Test not performed due to insufficient samples or probes.