Table 2 Reportable variants in patient data
From: Pitfalls of clinical exome and gene panel testing: alternative transcripts
Variant | Clinical significance | Gene | Panel transcript change | Alternative transcript change | AF | ||
|---|---|---|---|---|---|---|---|
Type | Details | Type | Details | ||||
a) Epilepsy patient exomes | |||||||
chr12:7343151G>C | Uncertain | PEX5 | na | na | Nonsynonymous | ENST00000434354.6_1:c.G178C:p.A60P | 0 |
chr17:42987518G>T | Uncertain | GFAP | na | na | Nonsynonymous | ENST00000435360.7_2:c.C1282A:p.P428T | 1e-5 |
chr4:15480865C>T | Uncertain | CC2D2A | na | na | Stopgain | ENST00000438599.6_2:c.C142T:p.R48X | 6e-5 |
b) Epilepsy patient genome | |||||||
chrX:18646821 delAG | Pathogenic | CDKL5 | na | na | Frameshift | ENST00000623535.1_2:c.2827_2828del:p.R943fs | 0 |
c) Control genomes | |||||||
chr2:86121052C>T | Uncertain | ST3GAL5 | na | na | Splicing | ENST00000640418.1_1:c.19–1G>A | 0 |
chrX:153296784G>A | Uncertain | MECP2 | Synonymous | NM_004992.3: c.C495T:p.P165P | Nonsynonymous | ENST00000611468.1_1:c.C481T:p.L161F | 4e-05 |
