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. 2023 Sep 8;102(36):e35068. doi: 10.1097/MD.0000000000035068

Table 3.

The pathogenic RB1 gene mutations detected in patients.

Number of the family Family ID Patients number Family pedigree/degree Mutations on RB1 gene ACMG classification status The types of mutations dbSNP/ rs codes Novel mutation status
1 105 650 Proband HET, EX:17, c.1567_1568delTT p.(Leu523Lysfs*4) Pathogenic Frameshift - Novel
105 651a Mother HET, EX:17, c.1567_1568delTT p.(Leu523Lysfs*4) Pathogenic Frameshift - Novel
2 125 850 Proband HET, EX:12, c.1150delC p.(Gln384Asnfs*2) Pathogenic Frameshift - Novel
125 853 Father HET, EX:12, c.1150delC p.(Gln384Asnfs*2) Pathogenic Frameshift - Novel
3 138 980 Proband HET, EX:3, c.371_372delTA p.(Ile124Argfs*6) Pathogenic Frameshift - -
4 147 1070 Proband HET, EX:18, c.1784delC p.(Pro595Leufs*16) Pathogenic Frameshift - Novel
5 159 1190 Proband HET, EX:20, c.2018_2038del p.(His673_Ile680delinsLeu) Pathogenic Frameshift - Novel
6 178 1380 Proband HET, EX:15, c.525delA p.(Gln176Asnfs*10) Pathogenic Frameshift Novel
7 183 1550 Proband HET, EX:19, c.1939_1940delCT p.(Leu647Phefs*5) Pathogenic Frameshift - -
8 185 1570 Proband HET, EX:24, c.2508_2509dupTG p.(Glu837Valfs*13) Pathogenic Frameshift - Novel
9 220 1920 Proband HET, EX:2, c.189delA p.(Lys63Asnfs*2) Pathogenic Frameshift - Novel
10 123 830 Proband HET, EX:6, c.585G > A p.(Trp195*) Pathogenic Nonsense - -
11 129 890 Proband HET, EX:18 c.1735C > T p.(Arg579*) Pathogenic Nonsense rs121913305 -
129 892b Father (Healthy) HET, EX:18 c.1735C > T p.(Arg579*) Pathogenic Nonsense rs121913305 -
129 893 Sibling HET, EX:18 c.1735C > T p.(Arg579*) Pathogenic Nonsense rs121913305 -
12 141 1010 Proband HET, EX:19, c.1954A > T p.(Lys652*) Pathogenic Nonsense - -
141 1011 Mother HET, EX:19, c.1954A > T p.(Lys652*) Pathogenic Nonsense - -
13 148 1080 Proband HET, EX:2, c.225G > A p.(Trp75*) Pathogenic Nonsense - -
14 154 1140 Proband HET, EX:10, c.958C > T p.(Arg320*) Pathogenic Nonsense rs121913300 -
154 1141a Mother HET, EX:10, c.958C > T p.(Arg320*) Pathogenic Nonsense rs121913300 -
154 1143a Maternal-Grandmother HET, EX:10, c.958C > T p.(Arg320*) Pathogenic Nonsense rs121913300 -
154 1145 Maternal-Uncle HET, EX:10, c.958C > T p.(Arg320*) Pathogenic Nonsense rs121913300 -
154 1147 Maternal-Cousin (Child of R1145) HET, EX:10, c.958C > T p.(Arg320*) Pathogenic Nonsense rs121913300 -
154 1149 Maternal-Cousin (Child of R1145) HET, EX:10, c.958C > T p.(Arg320*) Pathogenic Nonsense rs121913300 -
15 160 1200 Proband HET, EX:18, c.1735C > T p.(Arg579*) Pathogenic Nonsense rs121913305 -
16 165 1250 Proband HET, EX:24, c.2513C > A p.(Ser838*) Pathogenic Nonsense rs1131690908 -
17 177 1370 Proband HET, EX:14, c.1363C > T p.(Arg455*) Pathogenic Nonsense rs121913302 -
18 204 1760 Proband HET, EX:10, c.958C > T p.(Arg320*) Pathogenic Nonsense rs121913300 -
19 213 1850 Proband HET, EX:10, c.958C > T p.(Arg320*) Pathogenic Nonsense rs121913300 -
20 214 1860 Proband HET, EX:4, c.409G > T p.(Glu137*) Pathogenic Nonsense rs121913296 -
21 136 960 Proband HET, EX:12 c.1215 + 1G > A p.? Pathogenic Splice error rs587776783 -
22 151 1110 Proband HET, c.265-2A > T p.? Pathogenic Splice error - -
151 1111 Sibling HET, c.265-2A > T p.? Pathogenic Splice error - -
151 1112a Mother HET, c.265-2A > T p.? Pathogenic Splice error - -
23 153 1130 Proband HET, c.607 + 1G > T p.? Pathogenic Splice error rs587776789 -
24 195 1670 Proband HET, c.2520 + 3_2520 + 6delGAGT p.? Pathogenic Splice error rs1131690558 -
25 206 1780 Proband HET, c.1960 + 1G > C p.? Pathogenic Splice error - Novel
26 208 1800 Proband HET, c.1960 + 1delG p.? Pathogenic Splice error - -
27 216 1880 Proband HET, c.1390-14A > G p.? Pathogenic Splice error rs9535023 -
28 217 1890 Proband HET, c.1960 + 1G > A p.? Pathogenic Splice error - -
29 221 1930 Proband HET, c.607 + 1G > T p.? Pathogenic Splice error rs587776789 -
221 1931b Father (Healthy) HET, c.607 + 1G > T p.? Pathogenic Splice error rs587776789 -
221 1933b Sibling (Healthy) HET, c.607 + 1G > T p.? Pathogenic Splice error rs587776789 -
30 181 1500 Proband HET, EX:19, c.1960G > C p.(Val654Leu) (Last base of Exon 19) Pathogenic Missense rs483352690 -
31 104 640 Proband HET, EX:13, c.1332 G > A p.(Gln444=), Last base of Exon 13) Pathogenic Synonymous substitution - -
104 643 Sibling HET, EX:13, c.1332 G > A p.(Gln444=), Last base of Exon 13) Pathogenic Synonymous substitution - -
32 187 1590 Proband Upstream, HET, c.-198G > A p.? Pathogenic Upstream substitution rs387906521 -
187 1591 Sibling Upstream, HET, c.-198G > A p.? Pathogenic Upstream substitution rs387906521 -
33 109 690 Proband HET, EX:1-27 DELETION Pathogenic Large deletion or duplication - -
109 693 Sibling HET, EX:1-27 DELETION Pathogenic Large deletion or duplication - -
34 119 790 Proband HET, EX:21-23 DELETION Pathogenic Large deletion or duplication - -
35 128 880 Proband HET, EX:7-11 DELETION Pathogenic Large deletion or duplication - -
36 134 940 Proband HET, EX:1-27 DELETION Pathogenic Large deletion or duplication - -
134 942b Father (Healthy) HET, EX:18-27 DELETION Pathogenic Large deletion or duplication - -
134 943 Sibling HET, EX:18-27 DELETION Pathogenic Large deletion or duplication - -
37 140 1000 Proband HET, EX:1-17 DELETION Pathogenic Large deletion or duplication - -
38 172 1320 Proband HET, EX:13 DELETION Pathogenic Large deletion or duplication - -
39 173 1330 Proband HET, EX:1-27 DELETION + Partial deletion of DLEU1 and PCHD8 gene Pathogenic Large deletion or duplication - -
40 193 1650 Proband HET, EX:3-27 DELETION Pathogenic Large deletion or duplication - -
41 200 1720 Proband HET, EX:4-17 DUPLICATION Pathogenic Large deletion or duplication - -
42 201 1730 Proband HET, EX:1-27 DELETION Pathogenic Large deletion or duplication - -

ACMG = American College of Medical Genetics and Genomics, HET = heterozygous, RB1 = retinoblastoma gene.

a

Retinoma.

b

Healthy/unaffected.