Patients | ACM Diagnosis | Sex | Gene | HGVS coding (c.DNA)@ | HGVS Protein Level@ | Variant classification | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Class of Variant | Reference SNP ID* | ClinVar$ | HGMD§ | ACMG Classification# | ACMG Supporting Criteria# | MAF (%) ** | ||||||
AC-1 | possible | M | PKP2 | c.764T > A | p.Leu255His | missense | NR | VUS | CM2011575 | VUS | PM2, PP3, BP1 | NR |
AC-2 | possible | F | PKP2 | c.368G > A | p.Trp123Ter | nonsense | rs760576804 | NR | CM118968 | P | PVS1, PP5, PM2 | NR |
AC-3 | definite | M | PKP2 | c.368G > A | p.Trp123Ter | nonsense | rs760576804 | NR | CM118968 | P | PVS1, PP5, PM2 | NR |
PKP2 | c.764T > A | p.Leu255His | missense | NR | VUS | CM2011575 | VUS | PM2, PP3, BP1 | NR | |||
AC-4 | definite | M | PKP2 | c.368G > A | p.Trp123Ter | nonsense | rs760576804 | NR | CM118968 | P | PVS1, PP5, PM2 | NR |
PKP2 | c.764T > A | p.Leu255His | missense | NR | VUS | CM2011575 | VUS | PM2, PP3, BP1 | NR | |||
AC-5 | possible | M | DSG2 | c.1996G > C | p.Asp666His | missense | rs771623047 | VUS | NR | VUS | PM2, PP3, BP1 | 0.0008 |
AC-6 | borderline | M | DSG2 | c.1996G > C | p.Asp666His | missense | rs771623047 | VUS | NR | VUS | PM2, PP3, BP1 | 0.0008 |
AC-7 | possible | F | PKP2 | c.2134G > A | p.Gly712Arg | missense | rs200844640 | NR | NR | VUS | BS2, BP1, PP3 | 0.001 |
AC-8 | possible | M | PKP2 | c.2134G > A | p.Gly712Arg | missense | rs200844640 | NR | NR | VUS | BS2, BP1, PP3 | 0.001 |
AC-9 | borderline | F | PKP2 | c.2134G > A | p.Gly712Arg | missense | rs200844640 | NR | NR | VUS | BS2, BP1, PP3 | 0.001 |
AC-10 | borderline | M | PKP2 | c.2134G > A | p.Gly712Arg | missense | rs200844640 | NR | NR | VUS | BS2, BP1, PP3 | 0.001 |
AC-11 | possible | F | DSP | c.4419 C > T | p.Ala1473Ala | synonymous | rs727504542 | NR | NR | LB | BP6, BP4, BP7, PM2 | 0.006 |
AC-12 | possible | F | PKP2 | c.2013del | p.Lys672ArgfsTer12 | frameshift | rs764817683 | LP | CD061457 | P | PVS1, PP5, PM2 | 0.0008 |
AC-13 | definite | F | PKP2 | c.1105 A > G | p.Arg369Gly | missense | NR | NR | NR | VUS | PM2, BP1 | NR |
AC-14 | definite | F | PKP2 | c.2013del | p.Lys672ArgfsTer12 | frameshift | rs764817683 | LP | NR | P | PVS1, PP5, PM2 | 0.0008 |