Table 2.
Three Missense Variants in Shelterin Genes in 24 Nonmedullary Thyroid Cancer Families
Family | Genomic positiona | dbSNP | GnomAD | REF | ALT | Gene | Ref. gene | Amino acid change | SIFT | Polyphen |
---|---|---|---|---|---|---|---|---|---|---|
Family 1 | chr14:24709044 | rs1464083474 | 0.00003 | C | G | TINF2 | NM_001099274 | p.Val439Leu | Tolerated | Benign |
Family Bb | chr14:24711465 | rs202093758 | 0.00177 | C | G | TINF2 | NM_012461 | p.Gly25Ala | Tolerated | Benign |
Family Hb | chr16:67693939 | rs142662151 | 0.00035 | C | T | ACD | NM_001082486 | p.Asp123Asn | Deleterious | Possibly damaging |
Genomic position: GRCh37.p13.
The families B and H and the WGS data have been reported (11).
ALT, altered allele; REF, reference allele; WGS, whole genome sequencing.