Table 1.
Previously reported germ-line mutations in the DICER1 gene
| Region | Nucleotide change | Amino acid change | Reference |
|---|---|---|---|
| Exon 4 |
c.328_338dupGTGTCAGCTGT |
p.Arg114Cysfs*18 |
Slade et al.[11] |
| Exon 7 |
c.876_879delAAAG |
p.Arg293Ilefs*4 |
Rio Frio et al.[4] |
| Exon 8 |
c.912_919dupAGACTGTC |
p.Arg307Glnfs*8 |
Foulkes et al.[7] |
| Exon 8 |
c.1128_1132delAGTAA |
p.Lys376Asnfs*11 |
Sabbaghian et al.[8] |
| Exon 8 |
c.1153delC |
p.Arg385Alafs*73 |
Slade et al.[11] |
| Exon 8 |
c.1196_1197dupAG |
p.Trp400Serfs*59 |
Slade et al.[11] |
| Exon 8 |
c.1306dupT |
p.Ser436Phefs*41 |
Foulkes et al.[7] |
| Exon 9 |
c.1507G>T |
p.Glu503* |
Hill et al.[5] |
| Exon 10 |
c.1525C>T |
p.Arg509* |
Darrat et al. 2013 |
| Exon 10 |
c.1684_1685delAT |
p.Met562Valfs*11 |
Hill et al.[5] |
| Exon 10 |
c.1716delT |
p.Phe572Leufs*15 |
Slade et al.[11] |
| Exon 12 |
c.1910dupA |
p.Tyr637* |
Doros et al.[10]; Hill et al.[5] |
| Exon 12 |
c.1966C>T |
p.Arg656* |
Foulkes et al.[7]; Slade et al.[11]; Hill et al.[5] (reported in four individuals) |
| Intron 12 |
c.2040+1G>C |
p.? |
Slade et al.[11] |
| Intron 13 |
c.2117-1G>A |
p.? |
Foulkes et al.[7] |
| Exon 14 |
c.2245_2248dupTACC |
p.Pro750Leufs*12 |
Hill et al.[5] |
| Exon 14 |
c.2247C>A |
p.Tyr749* |
Doros et al.[10]; Hill et al.[5] |
| Exon 15 |
c.2268_2271delTTTG |
p.Cys756* |
Slade et al.[11] |
| Exon 15 |
c.2392dupA |
p.Thr798Asnfs*33 |
Hill et al.[5] |
| Exon 16 |
c.2457C>G |
p.Ile813_Tyr819del |
Rio Frio et al.[4] |
| r.2437_2457del21 | |||
| Exon 16 |
c.2516C>T |
p.Ser839Phe |
Rio Frio et al.[4] |
| Intron 17 |
c.2805-1G>T |
p.Tyr936_Arg996del |
Rio Frio et al.[4] |
| r.2805_2987del183 | |||
| Exon 18 |
c.2830C>T |
p.Arg944* |
Hill et al.[5] |
| Intron 18 |
c.2988-2_2988-1delAGinsCT |
p.? |
Slade et al.[11] |
| Exon 21 |
c.3270-6_4051 – 1280delinsG |
p.Tyr1091Ser*28 |
Sabbaghian et al.[13] |
| Exon 21 |
c.3288_3289insTTTC |
p.Gly1097Phefs*8 |
Slade et al.[11] |
| Exon 21 |
c.3505delT |
p.Ser1169Glnfs*23 |
Slade et al.[11] |
| Exon 21 |
c.3540C>A |
p.Tyr1180* |
Hill et al.[5] |
| Exon 21 |
c.3583_3584delGA |
p.Asp1195Leufs*39 |
Slade et al.[11] |
| Exon 21 |
c.3611_3616delACTACAinsT |
p.Tyr1204Leufs*29 |
Foulkes et al.[7] |
| Exon 21 |
c.3647C>A |
p.Ser1216* |
This study |
| Exon 21 |
c.3665delT |
p.Leu1222Tyrfs*17 |
Slade et al.[11] |
| Exon 21 |
c.3726C>A |
p.Tyr1242* |
Slade et al.[11] |
| Exon 21 |
c.3793delA |
p.Thr1265Glnfs*37 |
Slade et al.[11] |
| Exon 21 |
c.3907_3908delCT |
p.Leu1303Valfs*4 |
Foulkes et al.[7] |
| Intron 21 |
c.4050+1delG |
p.? |
Foulkes et al.[7] |
| Exon 23 |
c.4309_4312delGACT |
p.Asp1437Metfs*16 |
Bahubeshi et al.[3]; Doros et al.[10] |
| Exon 23 |
c.4403_4406delCTCT |
p.Ser1468Phefs*21 |
Slade et al.[11] |
| Exon 23 |
c.4740G>T |
p.Gln1580His |
Slade et al.[11] |
| Exon 23 |
c.4748T>G |
p.Leu1583Arg |
Hill et al.[5] |
| Exon 23 |
c.5018_5021delTCAA |
p.Ile1673Thrfs*31 |
Rio Frio et al.[4] |
| Exon 24 |
c.5104C>T |
p.Gln1702* |
Doros et al.[10]; Dehner et al.[9] |
| Exon 24 |
c.5122_5128delGGAGATG |
p.Gly1708Argfs*7 |
Slade et al.[11] |
| Exon 25 |
c.5465A>T |
p.Asp1822Val |
Slade et al.[11] |
| Exon 25 | c.5477C>A | p.Ser1826* | Bahubeshi et al.[3] |
Some of the information is obtained from [https://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=DICER1]. NM177438.2 was used as a reference sequence.