According to the American College of Medical Genetics and Genomics (ACMG) guideline, the deletion was ranked as “pathogenic” for completely covering the established haploinsufficiency gene CDKN2A, which is related to the susceptibility to melanoma and neural system tumor syndrome (OMIM 155755), melanoma-pancreatic cancer syndrome (OMIM 606719), and melanoma, cutaneous malignant, 2 (OMIM 155601). The gene discussed is CDKN2A; the disease is melanoma.