Details of confirmed recurrent gene mutations in OCT2, IRF8, ARID1A, and MCL1 in 114 FL cases
| FL case no. . | Gene . | Sequence context of mutations . | cDNA changes . | Amino acid change (protein) . | Sanger sequencing result (T/N) . | PolyPhen-2 prediction results . | SIFT prediction results . |
|---|---|---|---|---|---|---|---|
| L46 | OCT2 | GCCAG(A/T)CGACC | c.667A>A/T | 223T/S | Mut-Heter/WT | Possibly damaging (0.949) | Damaging (0) |
| L55 | OCT2 | GCCTA(C/T)CTCAG | c.920C>C/T | 307T/I | Mut-Heter/WT | Probably damaging (1.0) | Damaging (0) |
| L62 | OCT2 | GCCAG(A/G)CGACC | c.667A>A/G | 223T/A | Mut-Heter/WT | Benign (0.26) | Damaging (0) |
| ML47 | OCT2 | AGTGA(T)CCGCG | c.974Het_DelT | Frameshift deletion | Mut-Heter/WT | ||
| ML90 | OCT2 | GAGAC(G/A)CAAGAA | c.845G>G/A | 282R/H | Mut-Heter/WT | Probably damaging (1.0) | Damaging (0) |
| FL42 | OCT2 | GCCAG(A/G)CGACC | c.667A>A/G | 223T/A | Mut-Heter/WT | Benign (0.26) | Damaging (0) |
| FL59 | OCT2 | CTGTG(G/C)GGACG | c.1174 G>G/C | 392G/R | Mut-Heter/WT | Probably damaging (0.99) | Tolerated (0.19) |
| FL69 | OCT2 | CTGTG(G/C)GGACG | c.1174 G>G/C | 392G/R | Mut-Heter/WT | Probably damaging (0.99) | Tolerated (0.19) |
| FL71 | OCT2 | GCCAG(A/T)CGACC | c.667A>A/T | 223T/S | Mut-Heter/WT | Possibly damaging (0.949) | Damaging (0) |
| L62 | IRF8 | CCGTC(T/A)AAGTG | c.1279T>A/T | 427X/K | Mut-Heter/WT | ||
| L62 | IRF8 | TTCCT(G/A)AGGAA | c.343G>G/A | 115E/K | Mut-Heter/WT | Benign (0.433) | Tolerated (0.42) |
| ML55 | IRF8 | AACTG(G)CAGAA | c.1132Het_DelG | Frameshift deletion | Mut-Heter/WT | ||
| ML51 | IRF8 | CCCCC(G>T)AGGAG | c.1183G>T | 395E>X | Mut-Homo/WT | ||
| FL3 | IRF8 | ATGCC(T/G)CCATT | c.163T>G/T | 55S/A | Mut-Heter/WT | Benign (0.041) | Tolerated (1) |
| FL19 | IRF8 | TTCCT(G/A)AGGAA | c.343G>A/G | 115E/K | Mut-Heter/WT | Benign (0.433) | Tolerated (0.42) |
| FL27 | IRF8 | TGATG(C/T)AGGCC | c.1174C>C/T | 392Q/X | Mut-Heter/WT | ||
| FL51 | IRF8 | ATGTT(T)CCAGA | c.1218Het_DelT | Frameshift deletion | Mut-Heter/WT | ||
| ML55/FL8 | IRF8 | GGTGA(C/T)GCGGA | c.800C>C/T | 267T/M | Mut-Heter/Mut-Heter | Possibly damaging (0.954) | Tolerated (0.06) |
| ML2 | ARID1A | ATACA(G/T)GTCAA | Splice site | No | Mut-Heter/WT | ||
| ML30 | ARID1A | GACCA(C/T)GACAG | c.3826C>C/T | 1276R/X | Mut-Heter/WT | ||
| ML66 | ARID1A | GCGGG(G/T)GAACT | c.853G>G/T | 285G/X | Mut-Heter/WT | ||
| ML69 | ARID1A | GGGGG(G)AACTC | c.854Het_InsG | Frameshift insertion | Mut-Heter/WT | ||
| L38 | ARID1A | ATCCT(C/T)AGCCC | c.1741C>C/T | 581Q/X | Mut-Heter/WT | ||
| L62 | ARID1A | AGGGG(G)CATGAA | c.2666Het_DelG | Frameshift deletion | Mut-Heter/WT | ||
| FL6 | ARID1A | TAACA(T/C)GGCCA | c.2615T>T/C | 872M/T | Mut-Heter/WT | Possibly damaging (0.688) | Tolerated (0.58) |
| FL8 | ARID1A | GCCTA(C/G)GGCTT | c.444C>C/G | 148Y/X | Mut-Heter/unknown | ||
| FL15 | ARID1A | GCATC(C/T)GAGGC | c.2077C>C/T | 693R/X | Mut-Heter/WT | ||
| FL46 | ARID1A | CTCGG(C>T)CCGGG | c.914C>T | 305A>V | Mut-Homo/WT | Possibly damaging (0.675) | Tolerated (0.29) |
| FL60 | ARID1A | TCCAC(C/T)AACAA | c.511C>C/T | 171Q/X | Mut-Heter/WT | ||
| FL68 | ARID1A | TCCAC(C/T)AACAA | c.511C>C/T | 171Q/X | Mut-Heter/WT | ||
| FL72 | ARID1A | GGGGG(G)ACACC | c.5548Het_InsG | Frameshift insertion | Mut-Heter/WT | ||
| ML33 | MCL1 | GCCAG(C/T)AGAGG | c.450C>C/T | 167 A/V | Mut-Heter/WT | Possibly damaging (0.454) | Tolerated (0.14) |
| ML47 | MCL1 | CACCA(G/C)TACGG | c.464G>G/C | 155 S/T | Mut-Heter/WT | Benign (0.001) | Tolerated (0.19) |
| ML90 | MCL1 | CACCA(G/A)TACGG | c.464G>G/A | 155 S/N | Mut-Heter/WT | Benign (0.0) | Tolerated (0.21) |
| FL case no. . | Gene . | Sequence context of mutations . | cDNA changes . | Amino acid change (protein) . | Sanger sequencing result (T/N) . | PolyPhen-2 prediction results . | SIFT prediction results . |
|---|---|---|---|---|---|---|---|
| L46 | OCT2 | GCCAG(A/T)CGACC | c.667A>A/T | 223T/S | Mut-Heter/WT | Possibly damaging (0.949) | Damaging (0) |
| L55 | OCT2 | GCCTA(C/T)CTCAG | c.920C>C/T | 307T/I | Mut-Heter/WT | Probably damaging (1.0) | Damaging (0) |
| L62 | OCT2 | GCCAG(A/G)CGACC | c.667A>A/G | 223T/A | Mut-Heter/WT | Benign (0.26) | Damaging (0) |
| ML47 | OCT2 | AGTGA(T)CCGCG | c.974Het_DelT | Frameshift deletion | Mut-Heter/WT | ||
| ML90 | OCT2 | GAGAC(G/A)CAAGAA | c.845G>G/A | 282R/H | Mut-Heter/WT | Probably damaging (1.0) | Damaging (0) |
| FL42 | OCT2 | GCCAG(A/G)CGACC | c.667A>A/G | 223T/A | Mut-Heter/WT | Benign (0.26) | Damaging (0) |
| FL59 | OCT2 | CTGTG(G/C)GGACG | c.1174 G>G/C | 392G/R | Mut-Heter/WT | Probably damaging (0.99) | Tolerated (0.19) |
| FL69 | OCT2 | CTGTG(G/C)GGACG | c.1174 G>G/C | 392G/R | Mut-Heter/WT | Probably damaging (0.99) | Tolerated (0.19) |
| FL71 | OCT2 | GCCAG(A/T)CGACC | c.667A>A/T | 223T/S | Mut-Heter/WT | Possibly damaging (0.949) | Damaging (0) |
| L62 | IRF8 | CCGTC(T/A)AAGTG | c.1279T>A/T | 427X/K | Mut-Heter/WT | ||
| L62 | IRF8 | TTCCT(G/A)AGGAA | c.343G>G/A | 115E/K | Mut-Heter/WT | Benign (0.433) | Tolerated (0.42) |
| ML55 | IRF8 | AACTG(G)CAGAA | c.1132Het_DelG | Frameshift deletion | Mut-Heter/WT | ||
| ML51 | IRF8 | CCCCC(G>T)AGGAG | c.1183G>T | 395E>X | Mut-Homo/WT | ||
| FL3 | IRF8 | ATGCC(T/G)CCATT | c.163T>G/T | 55S/A | Mut-Heter/WT | Benign (0.041) | Tolerated (1) |
| FL19 | IRF8 | TTCCT(G/A)AGGAA | c.343G>A/G | 115E/K | Mut-Heter/WT | Benign (0.433) | Tolerated (0.42) |
| FL27 | IRF8 | TGATG(C/T)AGGCC | c.1174C>C/T | 392Q/X | Mut-Heter/WT | ||
| FL51 | IRF8 | ATGTT(T)CCAGA | c.1218Het_DelT | Frameshift deletion | Mut-Heter/WT | ||
| ML55/FL8 | IRF8 | GGTGA(C/T)GCGGA | c.800C>C/T | 267T/M | Mut-Heter/Mut-Heter | Possibly damaging (0.954) | Tolerated (0.06) |
| ML2 | ARID1A | ATACA(G/T)GTCAA | Splice site | No | Mut-Heter/WT | ||
| ML30 | ARID1A | GACCA(C/T)GACAG | c.3826C>C/T | 1276R/X | Mut-Heter/WT | ||
| ML66 | ARID1A | GCGGG(G/T)GAACT | c.853G>G/T | 285G/X | Mut-Heter/WT | ||
| ML69 | ARID1A | GGGGG(G)AACTC | c.854Het_InsG | Frameshift insertion | Mut-Heter/WT | ||
| L38 | ARID1A | ATCCT(C/T)AGCCC | c.1741C>C/T | 581Q/X | Mut-Heter/WT | ||
| L62 | ARID1A | AGGGG(G)CATGAA | c.2666Het_DelG | Frameshift deletion | Mut-Heter/WT | ||
| FL6 | ARID1A | TAACA(T/C)GGCCA | c.2615T>T/C | 872M/T | Mut-Heter/WT | Possibly damaging (0.688) | Tolerated (0.58) |
| FL8 | ARID1A | GCCTA(C/G)GGCTT | c.444C>C/G | 148Y/X | Mut-Heter/unknown | ||
| FL15 | ARID1A | GCATC(C/T)GAGGC | c.2077C>C/T | 693R/X | Mut-Heter/WT | ||
| FL46 | ARID1A | CTCGG(C>T)CCGGG | c.914C>T | 305A>V | Mut-Homo/WT | Possibly damaging (0.675) | Tolerated (0.29) |
| FL60 | ARID1A | TCCAC(C/T)AACAA | c.511C>C/T | 171Q/X | Mut-Heter/WT | ||
| FL68 | ARID1A | TCCAC(C/T)AACAA | c.511C>C/T | 171Q/X | Mut-Heter/WT | ||
| FL72 | ARID1A | GGGGG(G)ACACC | c.5548Het_InsG | Frameshift insertion | Mut-Heter/WT | ||
| ML33 | MCL1 | GCCAG(C/T)AGAGG | c.450C>C/T | 167 A/V | Mut-Heter/WT | Possibly damaging (0.454) | Tolerated (0.14) |
| ML47 | MCL1 | CACCA(G/C)TACGG | c.464G>G/C | 155 S/T | Mut-Heter/WT | Benign (0.001) | Tolerated (0.19) |
| ML90 | MCL1 | CACCA(G/A)TACGG | c.464G>G/A | 155 S/N | Mut-Heter/WT | Benign (0.0) | Tolerated (0.21) |
OCT2 data based on transcript accession ID #CCDS33035.1. L46 also contains a HIST1H1D 82K/N mutation absent in FL71. L62 also contains an IRF8 427X/K and ARID1A fs mutation. FL42 contains a HIST1H1E 181P/S mutation. FL59 contains a HIST1H1C 43L/V mutation absent in FL69. IRF8 data are based on transcript accession ID CCDS10956.1. ARID1A data are based on transcript accession ID CCDS285.1. MCL1 data are based on transcript accession ID CCDS957.1. Boldface text indicates the nucleotide change from WT (first) to mutated (second).
cDNA, complementary DNA; T/N, tumor/normal; WT, wild-type.