Table 5.
Case | Gene | Accession | Nucleotide | Amino acid | Zygosity (VAF) | ACMG classification | Novel variants? | Disease (MIM#) | Inheritance | Treatment |
---|---|---|---|---|---|---|---|---|---|---|
Incidental 1 | KRAS | NM_004985.3 | c.37G>T | p.Gly13Cys | Somatic (19.6%) | Likely pathogenic | Known | RAS-associated autoimmune leukoproliferative disorder (614470) | AD | Sirolimus Rituximab |
Incidental 2 | ISG15 | NM_005101.3 | c.379G>T | p.Glu127Ter | Homo | Likely pathogenic | Known | Immunodeficiency 38 (616126) | AR | Conservative care |
VAF, variant allele frequency; AD, autosomal dominant; AR, autosomal recessive; HSCT, hematopoietic stem cell transplantation.