Table 2.
Genotype and Clinical Phenotype of Known Mutation-Negative CS and/or CSL Individuals with Germline SEC23B Variants
|
Probands |
|||
|---|---|---|---|
| CCF02565 | CCF05664 | CCF04372 | |
| Age | 59 years | 69 years | 51 years |
| Sex | female | female | female |
| CC score | 7 | 11 | 14 |
| Clinical features | FvPTC (age 52 years), macrocephaly | PTC (age 45 years), ductal carcinoma in situ, atypical ductal hyperplasia, fibrocystic breast disease, hemangioma, macrocephaly | PTC (age 45 years), goiter, Hashimoto thyroiditis, macrocephaly |
| SEC23B variant | c.490G>T (p.Val164Leu), rs36023150 |
c.490G>T (p.Val164Leu), rs36023150 |
c.1512T>C (p.=), near splice, rs138198461 |
| NHLBI ESP MAF | T = 97, G = 12,909 (0.0075) | T = 97, G = 12,909 (0.0075) | C = 52, T = 12,954 (0.0040) |
| SIFT | damaging (0.01) | damaging (0.01) | – |
| PolyPhen-2 | possibly damaging (0.87) | possibly damaging (0.87) | – |
| MutationTaster | disease causing | disease causing | disease causing (acceptor lost) |
| PhyloPa | 5.615 | 5.615 | – |
| PhastConsb | 1 | 1 | – |
Abbreviations are as follows: FvPTC, follicular variant papillary thyroid cancer; PTC, papillary thyroid cancer.
a
PhyloP scores range between −14 and +6; conserved sites have positive scores.
b
PhastCons scores range between 0 and 1; values closer to 1 have a higher probability of nucleotide conservation.