Table 3.
Likely Benign Variants in PTEN Exon 5 Identified in the Study Population
| Patients | Nucleotide change | Amino acid change | Variation type | ID rs | Genotype | REVEL score | Clinvar prediction | Reported in | Frequency in breast cancer in other studies |
|---|---|---|---|---|---|---|---|---|---|
| 3. 8 .10 .45 | c.319G>A | D107N | Missense | rs57374291 | Heterozygous | 0.581 | - | dbSNP | 32/350 patients, Pakistan (Baig et al., 2011), 1/72patients, Iran (Nassiri et al., 2009) |
| 45. 69 | c.343G>A | D115N | Missense | rs145124907 | Heterozygous | 0.390 | - | dbSNP | 10/350 patients, Pakistan (Baig et al., 2011) |
| 11 . 54. 60 | c.457G>A | D153N | Missense | rs9651492 | Heterozygous | 0.501 | Uncertain significance | Clinvar, dbSNP, ClinGen | 33/350 patients, Pakistan (Baig et al., 2011), 1/43 patients, Greece (Kechagioglou et al., 2014), 2/51 patients, Egypt (Elwy et al., 2023) |
| 14. 15. 28 | c.462C>A | F154L | Missense | - | Heterozygous | 0.585 | - | - | |
| 17. 45. 53. 60. 67 | c.462C>G | F154L | Missense | - | Heterozygous | 0.585 | Uncertain significance | dbSNP, Clinvar | |
| 3. 11. 47. 52. 54. 57. 60. 65 | c.482G>A | R161K | Missense | - | Heterozygous | 0.539 | - | - | 18/350 patients, Pakistan (Baig et al., 2011), 1/50 patients, China (Yang et al., 2010) |