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. 2025;26(6):1977–1985. doi: 10.31557/APJCP.2025.26.6.1977

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)