Table II.
CDKN2A mutations detected in Greek melanoma-prone families
| Variants | Presence (n) in families | Frequency (%) in the 52 families | Effect of mutation | Biological significance (ClinVar) | Allele frequencies in European (non-Finnish) (GnomAD) | |
|---|---|---|---|---|---|---|
| CDKN2A gene | ||||||
| exon 1a | R24P (c.71G>C) | 8 | 15.38 | Missense | Pathogenic | 0.00003834 |
| exon 2 | A148T (c. 442G>A) | 8 | 15.38 | Missense | Uncertain significance | 0.03281 |
| exon 2 | W110X (c.330G>C) | 4 | 7.69 | Nonsense | Not recorded | 0.000 |
| exon 1a | G23fsX25 (c.68delG) | 1 | 1.92 | Frameshift | Not recorded | Not available |
| exon 2 | G101R (c.301G>C) | 1 | 1.92 | Missense | Uncertain significance | 0.000009541 |
| exon 1a | c.41_43delins CCG TGG CTG GCC ACG GCC AC) | 2 | 3.84 | Frameshift | Not recorded | Not available |
| exon 2 | G101E (c.302G>A) | 1 | 1.92 | Missense | Uncertain significance | 0.000009541 |
| exon 2 | R87W (c.259C>T) | 1 | 1.92 | Missense | Likely pathogenic | 0.000 |
| CDK4 gene | ||||||
| exon 2 | R24H (c.71G>A) | 1 | 1.92 | Missense | Likely pathogenic | Not available |