Table 1 Detected germline variants in patient and his parents
From: Novel PHOX2B germline mutation in childhood medulloblastoma: a case report
Gene | Transcript | Nucleotide change | Amino acid change | Mutation frequency | ACMG grade | Patient (Blood) | Patient (Tissue) | Patient (Saliva) | Patient (Urine) | Father | Mother | OMIM/ClinVar |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
MSH2 | NM_000251 | chr2:47637371 c.A505G (rs63750716) | p.I169V | 0.006361 | likely benign | heterozygous | heterozygous | heterozygous | heterozygous | no mutation | heterozygous | Lynch syndrome, Turcot syndrome Mismatch repair cancer syndrome [6] |
MED12 | NM_005120 | chrX:70360579 c.A6139G (rs748668603) | p.I2047V | 0.001032 | uncertain significance | homozygous | homozygous | homozygous | low contentration,unable to detect | no mutation | heterozygous | Lujan-Fryns syndrome [7], Ohdo syndrome, Opitz-Kaveggia syndrome |
PHOX2B | NM_003924 | chr4:41747990–41,'748,004 c.765_779del (rs761018157) | p.255_260del | – | benign / likely benign | heterozygous | heterozygous | heterozygous | low contentration,unable to detect | no mutation | No mutation | Neuroblastoma [8], Hirschsprung disease |