RET C609Y

有一些功能性证据表明，这种变异导致ret活性降低（pmid:9230192），细胞增殖和抗凋亡能力增强（pmid:16715139）。广泛报道于家族性和散发性多发性内分泌肿瘤2型髓样甲状腺癌。尽管在gnomad浏览器中对总共约150K等位基因进行了广泛的工作组和外显子覆盖，但从未观察到这种变异。
There is some functional evidence that this variant leads to reduced RET activity (PMID: 9230192) and increased cell proliferation and resistance to apoptosis (PMID: 16715139). It has been widely reported in both familial and sporadic cases of multiple endocrine neoplasia type 2 with medullary thyroid cancers. Despite extensive WGS and Exome coverage for a combined total of ~150k alleles in the GNOMAD browser, this variant has never been observed.