TABLE 3.
(Likely) benign variants in GLIALCAM and variants with an uncertain link to MLC.
| Exon/Intron | DNA | Protein | Variant type | Allele freq a | Allele count a | Pathogenicity (ACMG guidelines) | References | Extra info |
|---|---|---|---|---|---|---|---|---|
| Likely benign variants | ||||||||
| IVS5 | c.877+101G>T | p.? | 0.0923 | 86.741 | Benign | Lopez-Hernandez et al. (2011a) | Discussed in section 3.2.3 | |
| c.427+47_427+79del | p.? | - | - | Likely benign | This paper | |||
| 3 | c.582C>T | p.(Leu194Leu) | Synonymous | 0 | 0 | Benign | Lopez-Hernandez et al. (2011a) | Discussed in section 3.2.3 |
| Variants with uncertain link to MLC | ||||||||
| 5 | c.862C>T | p.(Arg288Cys) | Missense | 1.29*10−4 | 122 | Variant of unknown significance | Lopez-Hernandez et al. (2011a) | Discussed in section 3.2.3 |
a
Allele frequency and allele count based on 469,831 individuals for whom whole exome sequencing was available in the UK Biobank.