Table 2.
DNA variants identified in the proband in the CNTNAP2 gene by exome sequencing.
| cDNA * | Protein * | Reference SNP ID | Status | Inheritance | Clinvar Classification | ACMG/AMP § Classification |
|---|---|---|---|---|---|---|
| c.1897+25A>G | rs2074715 | Het | M | Benign | Benign | |
| c.2099-53C>A | rs2538962 | Het | F | na | Benign | |
| c.3382-34G>A | rs3801976 | Hom | F + M | na | Benign | |
| c.3716-12_3716-9dupCTTT | rs142426153 | Hom | F | VUS | VUS | |
| c.3716-6C>G | rs77025884 | Het | F | Benign | Benign | |
| c.3723G>A | p.Ala1241= | rs9648691 | Het | F | Benign | Benign |
* According to Human Genome Variation Society (HGVS) guidelines; § ACMG, American College of Medical Genetics, and AMP, Association for Molecular Pathology. SNP, single nucleotide polymorphism; ID, identifier; Het, heterozygous; Hom, homozygous; F, father; M, mother; VUS, variant of unknown significance; na, not available.