Table 3.
DICER1 variants observed in 43 TGCT probands studied 14 samples had no SNPs
| Variant | Predicted function | Number of cases | |
|---|---|---|---|
| c.1377-25 T > A |
Likely non-pathogenic |
Previously reported |
1**** |
| c.1509 + 32A > G, rs144973109 |
Likely non-pathogenic |
Previously reported |
2 |
| c.1907 + 43C > T, rs11624081 |
Likely non-pathogenic |
Previously reported |
6* |
| c.1907 + 105C > T, rs2275182 |
Likely non-pathogenic |
Previously reported |
2* |
| c.1935G > A p.P645P, rs61751177 |
Likely non-pathogenic |
Previously reported |
2§ |
| c.2041-91A > G, rs2297730 |
Likely non-pathogenic |
Previously reported |
6, 1***, 1§§§ |
| c.2116 + 59insA |
Likely non-pathogenic |
Novel |
1*** |
| c.2116 + 65A > T, rs187825570 |
Likely non-pathogenic |
Previously reported |
1** |
| c.2804 + 62C > T, rs117996122 |
Likely non-pathogenic |
Previously reported |
1§§ |
| c.2805-129G > A |
Likely non-pathogenic |
Novel |
1 |
| c.2997 T > G p. L999L, rs12018992 |
Likely non-pathogenic |
Previously reported |
1*** |
| c.3093 + 178 T > C, rs17091820 |
Likely non-pathogenic |
Previously reported |
1*** |
| c.5145C > T p. L1715L, rs139500905 |
Likely non-pathogenic |
Previously reported |
1 |
| c.*88 T > A, rs13078 | Likely non-pathogenic | Previously reported | 15 |
* one case has s11624081 in addition to this variant, and another has both rs61751177 and s11624081 (i.e. this person carries 3 variants).
** has both rs2297730 and rs13078 in addition to this variant.
*** has rs2297730, rs17091820, rs12018992 and c.2116 + 59insA (i.e. this person carries 4 variants).
**** has rs144973109 and rs2297730 in addition to this variant.
§ one case has both rs2275182 and rs11624081 in addition to this variant (i.e. this person carries 3 variants), and one case has rs13078 in addition to this variant.
§§ has rs13078 in addition to this variant.
§§§ has rs13078 in addition to this variant.