Table 5.
Summary of whole exome sequencing results performed in CVID patients with lymphoma.
| Patient Nr. | Chromo-some | Gene symbol | Transcript variant | Protein variant | Geno- type | SIFT function prediction | SIFT score | Polyphen-2 function prediction | CADD score | ExAC Freq. | GnomAD Freq. | HGMD accession |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GROUP 1: VARIANTS IN IUIS-CLASSIFIED GENES WITH LINKS TO CVID | ||||||||||||
| 4 | 7 | PMS2 | c.1687C>T | p.R563* | Het | 34.000 | 0.002 | 0.001 | CM102799 | |||
| 9 | 2 | CTLA4 | c.515C>G | p.S172W | Het | Damaging | 0.00 | Possibly Damaging | 28.700 | |||
| 10 | 1 | PIK3CD | c.3061G>A | p.E1021K | Het | Tolerated | 0.07 | Probably Damaging | 31.000 | 0.000 | CM067447 | |
| GROUP 2: MODIFIER GENES | ||||||||||||
| 1 | 17 | TACI | c.310T>C | p.C104R | Het | Damaging | 0.00 | Probably Damaging | 25.900 | 0.321 | 0.346 | CM052924 |
| GROUP 3: CANCER SUSCEPTIBILITY GENES | ||||||||||||
| 3 | 17 | BRCA1 | c.547+14delG | Het | 0.424 | 0.012 | 0.009 | CD176513 | ||||
| 6 | 17 | BRCA1 | c.5263_5264insC | p.Q652fs*74 | Het | 35.000 | 0.016 | 0.016 | CI941841 | |||