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Table 2.

Summary of variations discovered in CHEK2 in an expanded DLBCL cohort (n = 235)

DNA Protein Novel/SNP Mutated tumors Somatic/germline Ethnic origin MAF controls‡ MAF 1000 genomes§ SIFT Polyphen 
c.319+2T>A Novel 1/171 ND Swedish 
c.876dupT p.D293X Novel 1/171 Somatic Swedish 
c.1007A>T p.Q336L Novel 1/64 Somatic Chinese Damaging Damaging (possibly) 
c.1091T>C p.I364T Novel 1/171 ND Swedish Damaging Damaging (probably) 
c.7C>T p.R3W rs199708878 1/171 Germline Swedish Damaging Damaging (probably) 
c.349A>G p.R117G rs28909982 1/171 ND Swedish Damaging Damaging (probably) 
c.444+1G>A Reported 1/171 Germline Swedish 
c.1312G>T p.D438Y rs200050883 2/164 ND Swedish Damaging Damaging (probably) 
c.1582G>A p.E528K rs138040612 1/64 Germline Chinese Tolerated Damaging (possibly) 
c.470T>C p.I157T rs17879961 3/171 Germline (1) Swedish 0.008 0.007 Tolerated Damaging (possibly) 
c.538C>T p.R180C rs77130927 1/171 ND Swedish 0.006 0.001 Damaging Damaging (possibly) 
c.1100delC p.T367Mfs*15 Reported 3/163 ND Swedish 0.006 
c.1111C>T p.H371Y Reported 2/64 Somatic/germline Chinese 0.004 Damaging Benign 
DNA Protein Novel/SNP Mutated tumors Somatic/germline Ethnic origin MAF controls‡ MAF 1000 genomes§ SIFT Polyphen 
c.319+2T>A Novel 1/171 ND Swedish 
c.876dupT p.D293X Novel 1/171 Somatic Swedish 
c.1007A>T p.Q336L Novel 1/64 Somatic Chinese Damaging Damaging (possibly) 
c.1091T>C p.I364T Novel 1/171 ND Swedish Damaging Damaging (probably) 
c.7C>T p.R3W rs199708878 1/171 Germline Swedish Damaging Damaging (probably) 
c.349A>G p.R117G rs28909982 1/171 ND Swedish Damaging Damaging (probably) 
c.444+1G>A Reported 1/171 Germline Swedish 
c.1312G>T p.D438Y rs200050883 2/164 ND Swedish Damaging Damaging (probably) 
c.1582G>A p.E528K rs138040612 1/64 Germline Chinese Tolerated Damaging (possibly) 
c.470T>C p.I157T rs17879961 3/171 Germline (1) Swedish 0.008 0.007 Tolerated Damaging (possibly) 
c.538C>T p.R180C rs77130927 1/171 ND Swedish 0.006 0.001 Damaging Damaging (possibly) 
c.1100delC p.T367Mfs*15 Reported 3/163 ND Swedish 0.006 
c.1111C>T p.H371Y Reported 2/64 Somatic/germline Chinese 0.004 Damaging Benign 

The expanded DLBCL cohort was comprised of 171 Swedish and 64 Chinese cases. Population-specific MAFs for MAF controls were calculated by typing 1,030 Swedish or 429 Chinese controls, with an exception for p.D438Y, p.E528K, and c.1100delC variants, which were screened by Sanger in 703, 361, and 345 controls, respectively. For MAF, data from 1,000 genomes were available for 379 European and 197 Chinese controls. ND, not determined. (1), germline origin was confirmed in one patient.

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