Table 4 ACMG-AMP classification of PTS gene variants reported among Iranian population
Row | Variant | ACMG-AMP criteria | Classification | Reference/s used |
|---|---|---|---|---|
1 | c.70C>G (p.His24Asp) | PM2, PP2, PP3, PP4 | VUS | Khani et al., 2021 |
2 | c.155A>G (p.Asn52Ser) | PM3_VS, PM2, PP2, PP3, PP4 | P | Khatami et al., 2017 & Khani et al., 2021 & Almannai et al., 2019 & Leuzzi et al., 2010 & Hong et al., 2015 & Wang et al., 2019 & Gundorova et al., 2021 & Han et al., 2015 |
3 | c.200C>T (p.Thr67Met) | PM3_VS, PM2, PP2, PP3, PP4 | P | Oppliger et al., 1997 & Khani et al., 2021 & Liu et al., 2001 & Pangkanon et al., 2006 & Chaiyasap et al., 2017 |
4 | c.259C>T (p.Pro87Ser) | PM3_VS, PM2, PP2, PP3, PP4 | P | Khatami et al., 2017 & Imamura et al., 1999 & Cao et al., 2014 & Wang et al., 2019 & Liu et al., 2001 & Gundorova et al., 2021 & Gu et al., 2014 & Han et al., 2015 |
5 | c.281A>T (p.Asp94Val) | PM2, PM3_Su, PP2, PP3, PP4 | LP | Khatami et al., 2017 & Khani et al., 2021 |
6 | c.286G>A (p.Asp96Asn) | PM3_VS, PS3_Su, PM2, PP2, PP4 | P | Khani et al., 2021 & Liu et al., 2001 & Han et al., 2015 & Cao et al., 2014 & Imamura et al., 1999 |
7 | c.293C>T (p.Pro98Leu) | PM3_Su, PM2, PP2, PP3, PP4 | LP | Khani et al., 2021 & Chiu et al., 2012 |
8 | c.297C>A (p.Tyr99Ter) | PVS1, PM2, PM3, PP4 | P | Khatami et al., 2017 |
9 | c.317C>T (p.Thr106Met) | PM3_VS, PM2, PP2, PP3, PP4 | P | Khatami et al., 2017 & Khani et al., 2021 & Leuzzi et al., 2010 & Hong et al., 2015 & Gundorova et al., 2021 & Han et al., 2015 & Manti et al., 2020 |
10 | c.331G>A (p.Ala111Thr) | PM2, PM3_Su, PP2, PP3, PP4 | LP | Khatami et al., 2017 & Khani et al., 2021 & Chiu et al., 2012 & Li et al., 2018 |
11 | c.351C>A (p.Asn117Lys) | PM2, PM3_Su, PP2, PP4 | VUS | Khatami et al., 2017 & Khani et al., 2021 |
12 | c.367C>T (p.Pro123Ser) | PM2, PM3_Su, PP2, PP3, PP4 | LP | Khani et al., 2021 & Almannai et al., 2019 |
13 | c.373G>A (p.Gly125Arg) | PM2, PM3, PP2, PP3, PP4 | LP | Khani et al., 2021 |
14 | c.400G>A (p.Glu134Lys) | PM3_S, PM2, PP2, PP3, PP4 | LP | Khatami et al., 2017 & Gundorova et al., 2021 & Almannai et al., 2019 |
15 | c.407A>T (p.Asp136Val) | PM3_VS, PM2, PS3_Su, PP2, PP4 | P | Khani et al., 2021 & Dudešek et al., 2001 & Żekanowski et al., 1998 & Oppliger et al., 1997 |
16 | c.412A>C (p.Asn138His) | PM2, PM3_Su, PP2, PP3, PP4 | LP | Khani et al., 2021 |
17 | c.84-3C>G | PM3_VS, PS3_Su, PM2, PP4 | P | Khatami et al., 2017 & Khani et al., 2021 & Romstad et al., 1999 & Gundorova et al., 2021 & Manti et al., 2020, Oppliger et al., 1997 |
18 | c.163+2T>C | PVS1, PM2, PP4 | P | Khatami et al., 2017 |
19 | c.164-1G>C | PVS1, PM2, PP4 | P | Manti et al., 2020 |
20 | c.315-1G>A | PVS1, PM2, PM3, PP4 | P | Gundorova et al., 2021 |
21–54 | The ACMG-AMP classification of other variants were as follows: c.83+84A>T, c.84-97_84-96del, c.84-7dup, c.84-7del, c.163+14T>C, c.164-97T>C, c.187-81A>G, and c.243+94T>A (all with BA1, BS2, BP4 criteria and benign classification) & c.186+184dup, c.187-52G>A, c.243+154C>T (all with BS1, BS2, BP4 criteria and benign classification) & c.163+92C>T, c.163+136G>T, c.164-92C>G, c.164-36A>G, c.186+122T>C, c.186+132G>T, c.243+119G>A, c.243+136A>G, and c.315-94C>T (all with PM2, BP4 criteria and VUS classification) & c.84-6G>T, c.84-5G>T, c.84-3C>T, c.186+166A>G, c.186+169G>C, c.243+11G>A, and c.243+97C>T (all with BP4 criterion and VUS classification) & c.312G>A (p.Val104=), c.318G>A (p.Thr106=), and c.420G>T (p.Val140=) (all with BP7 criterion and VUS classification) & c.314+20G>A (with BS2, BP4 criteria and likely benign classification) & c.405T>C (p.Thr135=) (with BA1, BS2, BP7 criteria and benign classification) & c.-19C>T and c.*16T>C (both without any criteria and with VUS classification) | |||