Table 1.
Overview of (likely) pathogenic germline variants (ACMG classes 4/5) identified during routine testing.
| ID | Diagnosis | Solitary/Multiple | AD/Gender | Family History | Gene | Nucleotide Change | Amino Acid Change | S:F Ratio in Tumor Tissue |
|---|---|---|---|---|---|---|---|---|
| ID45 | PHEO | unknown | 30/f | unknown | FH | c.434C > G | p.(Ser145*) | 0.14 |
| ID11 | PHEO | solitary | 59/m | unknown | FH | c.1431_1433dupAAA | p.(Lys477dup) | n.a. |
| ID32 | PHEO | multiple | 39/f | 1 melanoma (AO 35) | NF1 | c.6084+1G > A | p.? | n.a. |
| ID52 | PHEO | multiple | 47/f | inconspicuous | RET | c.1901G > T | p.(Cys634Phe) | 5.5 |
| ID56 | HNP | unknown | 23/m | unknown | SDHA | c.553_554insA | p.(Ala186fs) | n.a. |
| ID62 | PGL | solitary | 37/f | inconspicuous | SDHA | c.1338delA | p.(His447fs) | n.a. |
| ID35 | PGL/HNP | multiple | 52/f | 1 melanoma (AO 48) | SDHAF2 | c.232G > A | p.(Gly78Arg) | 217.3 |
| ID3 | HNP | solitary | 17/m | inconspicuous | SDHB CHEK2 |
c.649C > T c.1100delC |
p.(Arg217Cys) p.(Thr367fs) |
24.1 |
| ID42 | PGL | solitary | 51/m | cancers (AO > 50) | SDHB | c.287-3 C > G | p.? | 1472.7 |
| ID4 | PGL/HNP | multiple | 23/f | cancers (AO > 50) | SDHB | deletion exon 3 | n.a. | |
| ID55 | HNP | unknown | 26/f | unknown | SDHB | c.806delT | p.(Met269fs) | n.a. |
| ID86 | PGL | solitary | 33/m | unknown | SDHB | c.649C > T | p.(Arg217Cys) | n.a. |
| ID19 | HNP | solitary | 36/f | cancers (AO > 50) | SDHB | c.725G > A | p.(Arg242His) | 5908.3 |
| ID63 | PGL | solitary | 48/m | cancers (AO > 50) | SDHC | c.397C > T | p.(Arg133*) | 45.4 |
| ID48 | HNP | solitary | 69/f | inconspicuous | SDHC | c.43C > T | p.(Arg15*) | n.a. |
| ID43 | PHEO | solitary | 50/m | cancers (AO > 50) | SDHC | c.379C > T | p.(His127Tyr) | 795.5 |
| ID34 | HNP | solitary | 34/m | 2 PGLs | SDHD | c.53-2A > G | p.? | 278.3 |
| ID38 | HNP | solitary | 47/f | 1 PGL | SDHD | c.49C > T | p.(Arg17*) | 920.6 |
| ID59 | HNP | unknown | 68/f | unknown | TMEM127 | c.465_466insACTTG | p.(Ala156fs) | n.a. |
AD: age at diagnosis, AO: age of onset, PHEO: pheochromocytoma, PGL: paraganglioma, HNP: head & neck paraganglioma, S:F ratio: succinate to fumarate ratio.