Classification of previously identified (red) / likely (orange) pathogenic variants found in our cohort in GATA5: example of analysis
| Base change | c.8A >G | c.56C >G | c.1173G >T | c.698T >C |
|---|---|---|---|---|
| Amino acid change | p.Gln3Arg | p.Ser19Trp | p.Trp391Cys | p.Leu233Pro |
| dbSNP ID | rs113068438 | rs200383755 | Novel | rs116164480 |
| No. of alleles in our cohort | 3 | 1 | 1 | 1 |
| Minor Allele Frequency (from EVS) | 0.00328 | 0 | 0 | 0.00108 |
| Polyphen 2 score | 0.891 (possibly damaging) | 1 (probably damaging) | 1 (probably damaging) | 0.723 (possibly damaging) |
| SIFT score | 0.003 (damaging) | 0.001 (damaging) | 0.000 (damaging) | 0.039 (damaging) |
| Grantham difference | 43 | 177 | 214 | 98 |
| phastCONS score | 0.997 | - | - | 1 |
| Previous evidence of pathogenicity | Previously associated with BAV; variant in highly conserved transcriptional activation domain (Padang et al. J Mol Cell Cardiol 2012) | Previously associated with pathogenicity (Padang et al J Mol Cell Cardiol 2012) | ||