Table 1.
PKP2 (NM_004572.3) variants analyzed in our cohort
| Variant (dbSNP ID) |
Genomic coordinates (GRCh38) | ACMG verdict | ClinVar clinical significance | gnomAD allele frequency | Number of cases | Described |
|---|---|---|---|---|---|---|
| Frameshift variants | ||||||
|
p.Thr50SerfsTer61 c.148_151delACAG (rs397516997) |
chr12-32,896,581-CTGT- | Pathogenic | Pathogenic | 0 | 1 | Yes |
|
p.His318TrpfsTer10 c.929_951dupTGGATTCCAGCGGGAGGAGAGCG (rs1064792927) |
chr12-32,877,929–CG…CA (23 bp) | Pathogenic | Pathogenic | 0.00000407 | 2 | No |
|
p.Ala568ValfsTer9 c.1703delC (n/a) |
chr12-32,824,148-G- | Likely pathogenic | n/a | 0 | 1 | No |
|
p.His733AlafsTer8 c.2197_2202delCACACCinsG (rs397517021) |
chr12-32,802,500-GGTGTG-C | Pathogenic | Pathogenic | 0 | 1 | Yes |
|
p.Asn809GlufsTer18 c.2423dupA (n/a) |
chr12-32,796,175–T | Likely Pathogenic | n/a | 0 | 1 | Yes |
| Nonsense variants | ||||||
|
p.Arg413Ter c.1237C > T (rs372827156) |
chr12-32,850,907-G-A | Pathogenic | Pathogenic | 0.00001415 | 4 | Yes |
|
p.Gln638Ter c.1912C > T (rs397517012) |
chr12-32,822,526-G-A | Pathogenic | Pathogenic | 0.000007074 | 3 | Yes |
| Splicing variants | ||||||
|
c.2146-1G > C (rs193922674) |
chr12-32,802,557-C-G | Pathogenic | Pathogenic | 0.00003184 | 5 | Yes |
|
c.2489 + 1G > A (rs111517471) |
chr12-32,796,108-C-T | Pathogenic | Pathogenic | 0.00002829 | 9 | Yes |
| Missense variants | ||||||
|
p.Gly673Val c.2018G > T (rs1426480515) |
chr12-32,821,483-C-A | Uncertain Significance | n/a | 0 | 1 | Yes |