From: Neurofibromatosis type 1-associated tumours: Their somatic mutational spectrum and pathogenesis
Patient ID | Germline point mutation | Type of germline mutation | Somatic point mutation | Effect of somatic mutation | Source |
---|---|---|---|---|---|
Dermal neurofibromas | |||||
T196.3 | Ex 2 and 3 deleted | 2 exon deletion | Ex4c: c.648dup73 p.Leu216 (through splice site) | 73 bp duplication (FS) | 1 |
T196.12 | Â | Â | Ex4c: c.655-1G > A | Splice site | Â |
T196.15 | Â | Â | Ex6: c.750delT p.Phe250LeufsX30 | 1 bp deletion (FS) | Â |
T196.16 | Â | Â | Ex16: c.2534_2557del24 p.Cys845X | 24 bp deletion (In-frame) | Â |
T196.7 | Â | Â | Ex16: c.2844delA p.Gly949AspfX3 | 1 bp deletion (FS) | Â |
T196.4 | Â | Â | Ex18: c.3047_c3048delGT p.Cys1016SerfsX4 | 2 bp deletion (FS) | Â |
T196.5 | Â | Â | Ex27a: c.4537C > T p.Arg1513X R | Nonsense | Â |
T196.13 | Â | Â | Ex27b: c.4743delG p.Asp1582IlefsX21 | 1 bp deletion (FS) | Â |
T196.1 | Â | Â | Ex44: c.7721_7722delAA p.Lys257Ser4fsX4 | 2 bp deletion (FS) | Â |
T543.1 | Ex4a: c.373delGinsATGTGT p.Arg125HisfsX22 | Indel (FS) | Ex21: c.3568del80 p.Gly1190HisfsX3 | 80 bp deletion (FS) | Unpublished data, Cardiff |
T543.3 | Â | Â | Ex26: c.4388C > T p.Ser1463Phe | Missense | Â |
T128.10 | Ex6: c.784C > T p.Arg262Cys | Missense | Ex4b: c.574C > T p.Arg192X R | Nonsense | Unpublished data, Cardiff |
T128.1 | Â | Â | Ex8: c.1170delC p.Asp390LysfsX6 | 1 bp deletion (FS) | Â |
T128.17 | Â | Â | Ex10c: c.1556A > C p.Gln519Pro R | Missense | Â |
T128.8 | Â | Â | Ex32: c.6055_6056delTC p.Ser2019TrpfsX18 | 2 bp deletion (FS) | Â |
NF29a-4 | Ex6: c.801G > A p.Trp267X | Nonsense | Ex10a: c.1381C > T p.Arg461X | Nonsense | 37 |
NF17-8 | Â | Â | Ex10c: c.1528-14_1546del33 p.Asp510fs (through splice site) | 32 bp deletion [FS] | Â |
NF17-1 | Â | Â | Ex10c: c.1641 + 1G > A | Splice site | Â |
NF17-9 | Â | Â | Ex18: c.3049C > T p.Glu1017X | Nonsense | Â |
NF29a-7 | Â | Â | Ex19b: c.3303_3314+7del19 p.Glu1101 (through splice site) | 19 bp deletion [FS] | Â |
NF17-15 | Â | Â | Ex23.1: c.3916C > T p.Arg1306X R | Nonsense | Â |
NF29a-9 | Â | Â | Ex27b: c.4756insT p.Tyr1586LeufsX14 | 1 bp insertion (FS) | Â |
NF17-18 | Â | Â | Ex28: c.5205 + 1G > A | Splice site | Â |
NF17-23 | Â | Â | Ex31: c.5772_5775delTTTG p.Cys1924TrpfsX4 | 4 bp deletion (FS) | Â |
NF29a-5 | Â | Â | Ex40: c.7237_7253del17 p.Gln2413fsX2 | 17 bp deletion (FS) | Â |
L-002 F | Ex9: c.1246C > T p.Arg416X | Nonsense | Ex3: c.246_247delTC p.Glu83SerfsX15 | 2 bp deletion (FS) | 3 |
L-002 A | Â | Â | Ex5: c.655-1G > T | Splice site | Â |
L-002 D | Â | Â | Ex8: c.1105C > T p.Gln369X | Nonsense | Â |
L-002 E | Â | Â | Ex8: c.1153delC p.Arg385AlafsX2 | 1 bp deletion (FS) | Â |
L-002 B | Â | Â | Ex22: c.3757_3764del8 p.Leu1253ThrfsX8 | 8 bp deletion (FS) | Â |
NF282-1 | Ex9: c.1260+1G > A | Splice site | Ex23.2: c.4021C > T p.Gln1341X | Nonsense | 8 |
NF282-2 | Â | Â | Ex23.2: c.4084C > T p.Arg1362X | Nonsense | Â |
T473.6 | Ex10b: c.1413_1414delAG p.Lys471AsnfsX1 | 2 bp deletion (FS) | Ex7: c.890delA p.Leu297SerfsX20 | 1 bp deletion (FS) | 4 |
T473.12 | Â | Â | Ex12b: c.1884insA p.Tyr628X | 1 bp insertion (FS) | Â |
T473.11 | Â | Â | Ex16: c.2451insG p.Ser818ValfsX12 | 1 bp insertion (FS) | Â |
T473.18 | Â | Â | Ex22: c.3807insC p.Ser1270LeufsX13 | 1 bp insertion (FS) | Â |
T473.20 | Â | Â | Ex23.2: c.4087delA p.Ser1363ValfsX22 | 1 bp deletion (FS) | Â |
T473.13 | Â | Â | Ex31: c.5888A > C p.Asn1963Thr | Missense | Â |
T473.33 | Â | Â | Ex34: c.6478A > G p.Ser2160Gly | Missense | Â |
T473.36 | Â | Â | Ex38: c.6859delG p.Asp2287ThrfsX18 | 1 bp deletion (FS) | Â |
T473.17 | Â | Â | Ex40: c.7128delG p.Tyr2377ThrfsX23 | 1 bp deletion (FS) | Â |
T82.3 | Ex12a: c.1754_1757delTAAC p.Thr585ValfsX18 | 4 bp deletion (FS) | Ex16: c.2445delG p.Arg815SerfsX5 | 1 bp deletion (FS) | Unpublished data, Cardiff |
T82.5 | Â | Â | Ex35: c.6621_6625delGTGGA p.Gln2207HisfsX11 | 5 bp deletion (FS) | Â |
T77.3 | Ex12a: c.1783G > A p.Glu595Lys | Missense | Ex16: c.2446C > T p.Arg816X R | Nonsense | Unpublished data, Cardiff |
T77.1 | Â | Â | Ex29: c.5242C > T p.Arg1748X R | Nonsense | Â |
T77.4 | Â | Â | Ex31: c.5839C > T p.Arg1947X | Nonsense | Â |
T141.4 | Ex13: c.2233delA p.Ser745AlafsX2 | 1 bp deletion (FS) | Ex12b: c.1885G > A p.Gly629Arg | Missense | Unpublished data, Cardiff |
T141.13 | Â | Â | Ex30: c.5731delT p.Ser1911LeufsX9 R | 2 bp deletion (FS) | Â |
T133 | Ex16: c.2446C > T p.Arg816X | Nonsense | Ex31: c.5897dupAC p.Glu1966HisfsX25 | 2 bp duplication (FS) | Unpublished data, Cardiff |
T137 | Â | Â | Ex31: c.5898dupAC p.Glu1966HisfsX25 | 2 bp duplication (FS) | Â |
T437 | Ex17: c.2875C > T p.Gln959X | Nonsense | Ex2: c.67A > T p.Ile23Leu | Missense | 4 |
T441 | Â | Â | Ex4b: c.586G > T p.Glu196X | Nonsense | Â |
T459 | Â | Â | Ex10c: c.1641+2T > G | Splice site | Â |
T433 | Â | Â | Ex10c: c.1660C > G p.Gln554Glu | Missense | Â |
T469 | Â | Â | Ex12a: c.1724delCACA p.Ser575X | 4 bp deletion (FS) | Â |
T468 | Â | Â | Ex13: c.2041C > T p.Arg681X | Nonsense | Â |
T472 | Â | Â | Ex13: c.2088G > A p.Trp696X | Nonsense | Â |
T463 | Â | Â | Ex16: c.2410-3T > G | Splice site | Â |
T451 | Â | Â | Ex20: c.3449C > T p.Ser1150Leu | Missense | Â |
T456 | Â | Â | Ex22: c.3709-2A > G | Splice site | Â |
T450 | Â | Â | Ex23.2: c.4084C > T p.Arg1362X R | Nonsense | Â |
T442 | Â | Â | Ex27b: c.4687_4691del5 p.Phe1563GlyfsX36 | 5 bp deletion (FS) | Â |
T443 | Â | Â | Ex27b: c.4693insG p.Ala1565GlyfsX35 | 1 bp insertion (FS) | Â |
T467 | Â | Â | Ex29: c.5380C > T p.Gln1794X | Nonsense | Â |
T457 | Â | Â | Ex34: c.6448A > T p.Lys2150X | Nonsense | Â |
T471 | Â | Â | Ex38: c.6895delG p.Val2299TrpfsX8 | 1 bp deletion (FS) | Â |
T434 | Â | Â | Ex44: c.7699C > T p.Gln2567X | Nonsense | Â |
T435 | Â | Â | Ex44: c.7702C > T p.Gln2568X | Nonsense | Â |
T460 | Â | Â | Ex46: c.7924delT p.Ser2642LeufsX16 | 1 bp deletion (FS) | Â |
CSG6N | Ex21: c.3525_3526delAA p.Arg1176SerfsX18 | 2 bp deletion (FS) | Ex4c: c.587-8del6 Splicing effect? | Intronic deletion | 6, 7 |
CSG13N | Â | Â | Ex9: c.1260 + 1G > A | Splice site | Â |
CSG48N | Â | Â | Ex10c: c.1604A > G p.Gln535Arg | Missense | Â |
CSG29N | Â | Â | Ex14: c.2266C > T p.Gln756X | Nonsense | Â |
CSG33N | Â | Â | Ex16: c.2816delA p.Asn939IlefsX12 | 1 bp deletion (FS) | Â |
CSG19N | Â | Â | Ex17: c.2928del13 p.Glu977AsnfsX3 | 13 bp deletion (FS) | Â |
CSG26N | Â | Â | Ex26: c.4514 + 1G > C | Splice site | Â |
CSG44N | Â | Â | Ex31: c.5774delT p.Leu1925TrpfsX4 | 1 bp deletion (FS) | Â |
CSG8N | Â | Â | Ex33: c.6292_6322del31 p.Arg2098PhefsX21 | 31 bp deletion (FS) | Â |
CSG30N | Â | Â | Ex45: c.7908-2A > T | Splice site | Â |
NF482- UHG B | Ex21: c.3525_3526delAA p.Arg1176SerfsX18 | 2 bp deletion (FS) | Ex4a: c.359_375del17 p.Phe120X | 17 bp deletion (FS) | 3 |
NF482- UHG C | Â | Â | Ex4c: c.603_621del19 p.Phe201fsX4 | 19 bp deletion (FS) | Â |
NF482- UHG A | Â | Â | Ex8: c.1185 + 1G > A | Splice site | Â |
NF482- UHG D | Â | Â | Ex14: c.2252-30_2252- 6del??insT | Indel (FS?) | Â |
T191.5 | Ex22: c.3721C > T p.Arg1241X | Nonsense | Ex4b: c.505_524del20 p.Glu169X | 20 bp deletion (FS) | Unpublished data, Cardiff |
T191.9 | Â | Â | Ex10b: c.1417delA p.Thr473GlnfsX24 | 1 bp deletion (FS) | Â |
T191.1 | Â | Â | Ex18: c.2991 + 1 G > A | Splice site | Â |
T191.2 | Â | Â | Ex22: c.3721C > T p.Arg1241X R | Nonsense | Â |
T175.1 | Ex23.2: c.4084C > T p.Arg1362X | Nonsense | Ex12a: c.1738insT p.Tyr580LeufsX7 R | 1 bp insertion (FS) | Unpublished data, Cardiff |
T175.2 | Â | Â | Ex31: c.5817C > A p.Cys1939X R | Nonsense | Â |
T209.1ii | Ex28: c.4950C > A p.Tyr1650X | Nonsense | Ex7: c.1062 + 1G > A R | Splice site | Unpublished data, Cardiff |
T209.7 | Â | Â | Ex10a: c.1318C > T p.Arg440X R | Nonsense | Â |
T209.8 | Â | Â | Ex15: c. 2326G > A p. Ala776Thr R | Missense?/ splicing? | Â |
T209.5 | Â | Â | Ex25: c.4345delA p.Ser1449AlafsX12 | 1 bp deletion (FS) | Â |
T209.6 | Â | Â | Ex37: c.6790_6806del17 p.Tyr2264AspfsX8 | 17 bp deletion (FS) | Â |
T506.5 | Ex36: c.6756 + 2T > G | Splice site | Ex4b: c.480delG p.Arg160SerfsX5 | 1 bp deletion (FS) | 4 |
T506.2 | Â | Â | Ex6: c.731_732delAA p.Glu244ValfsX5 | 2 bp deletion (FS) | Â |
T506.4 | Â | Â | Ex17: c.2987insAC p.Val996AspfsX17 | 2 bp insertion (FS) | Â |
T506.8 | Â | Â | Ex19b: c.3306insA p.Phe1103IlefsX2 | 1 bp insertion (FS) | Â |
T506.1 | Â | Â | Ex22: c.3745_3764del20 p.Ser1249ThrfsX7 | 20 bp deletion (FS) | Â |
T506.9 | Â | Â | Ex33: c.6364del114 p.Glu2122 (through splice site) | 114 bp deletion (FS) | Â |
T506.6 | Â | Â | Ex40: c.7127-3T > G | Splice site | Â |
T106.3 | Ex37: c.6791insA p.Tyr2264Xfs | 1 bp insertion (FS) | Ex13: c.2033delC p.Pro678GlnfsX9 R | 1 bp deletion (FS) | Unpublished data, Cardiff |
T106.4 | Â | Â | Ex26: c.4374_4375delCC p.Leu1459X R | 2 bp deletion (FS) | Â |
T175.1 | Ex37: c.6792C > G p.Tyr2264X | Recurrent nonsense mutation that causes a splicing defect | Ex12a: c.1738insT p.Tyr580LeufsX7 R | 1 bp insertion (FS) | Unpublished data, Cardiff |
T143.2 | Â | Â | Ex19a: c.3124delGTAGinsAT p.Val1042IlefsX16 | Indel (FS) | Â |
T143.13 | Â | Â | Ex30: c.5731delT p.Ser1911LeufsX9 R | 1 bp deletion (FS) | Â |
T175.2A | Â | Â | Ex31: c.5817C > A p.Cys1939X R | Nonsense | Â |
T541.3 | Ex40: c.7127_7258del132 p.Gly2376. Is this a complete exon 40 deletion?? | 132 bp Inframe deletion (FS) Complete exon 40 deletion ?? | Ex12b: c.1888delG p.Val630X R | 1 bp deletion (FS) | Unpublished data, Cardiff |
T541.1 | Â | Â | Ex27b: c.4743insG p.Asp1582GlufsX18 | 1 bp insertion (FS) | Â |
T536B | Â | Â | Ex40: c.7169delG p.Arg2390LysfsX6 | 1 bp deletion (FS) | Â |
T210.1 | Ex42: c.7458delC p.Tyr2487Ilefs | 1 bp deletion (FS) | Ex7: c.1062 + 1G > A R | Splice site | Unpublished data, Cardiff |
T210.6 | Â | Â | Ex22: c.3870 + 2T > A | Splice site | Â |
T181.3 | E6-27b: Partial deletion of gene 90 kb | Partial gene deletion | Ex3: c.227insG p.Glu76GlyfsX30 | 1 bp insertion (FS) | Unpublished data, Cardiff |
T211.2 | Â | Â | Ex7: c.910C > T p.Arg304X R | Nonsense | Â |
T211.3 | Â | Â | Ex17: c 2855T > A p.Leu952X | Nonsense | Â |
T34.1 | Â | Â | Ex23.2: c 4108C > T p.Gln1370X | Nonsense | Â |
T150.2 | Â | Â | Ex34: c.6410delT p.Leu2137TyrfsX40 | 1 bp deletion (FS) | Â |
T181.1 | Â | Â | Ex34: c.6409_6410delTT p.Leu2137ThrfsX19 | 2 bp deletion (FS) | Â |
T198 | Â | Â | Ex42: c.7449delT p.Ala2484GlnfsX18 | 1 bp deletion (FS) | Â |
C176_3 | NF1 microdeletion | Genomic deletion | Ex4a: c.479 + 1G > A | Splice site | 2 |
C174 | Â | Â | Ex15: c.2326- ?_2409 Complete exon 15 deletion ? | Exon deletion? | Â |
C186 | Â | Â | Ex17: c.2990 + 1G > A R | Splice site | Â |
C176_1 | Â | Â | Ex28: c.4812C > G p.Tyr1604X R | Nonsense | Â |
C176_2 | Â | Â | Ex31: c.5927G > A p.Trp1976X R | Nonsense | Â |
L-001 D | NF1 microdeletion | Genomic deletion | Ex4a: c.396_403del8 p.Leu134PhefsX21 | 8 bp deletion (FS) | 3 |
L-001 B | Â | Â | Ex19a: c.3189T > A p.Cys1063X | Nonsense | Â |
L-001 E | Â | Â | Ex22: c.3774G > A p.Trp1258X | Nonsense | Â |
L-001 C | Â | Â | Ex23.2: c.4086_4092del7 p.Arg1362AlafsX20 | 7 bp deletion (FS) | Â |
L-001 A | Â | Â | Ex28: c.5026_5032del7 p.Leu1676Alafs10 | 17 bp deletion (FS) | Â |
NF96-1 E | NF1 microdeletion | Genomic deletion | Ex13: c.2050C > T p.Glu684X | Nonsense | 3 |
NF96-1 B | Â | Â | Ex20: c.3330delT p.Phe1110LeufsX2 | 1 bp deletion (FS) | Â |
NF96-1 A | Â | Â | Ex41: c.7394 + 1G > A | Splice site | Â |
NF96-1 C | Â | Â | Ex42: c.7438delG p.Glu2480LysfsX22 | 1 bp deletion (FS) | Â |
NF339- UHG B | NF1 microdeletion | Â | Ex3: c.288 + 2T > G | Splice site | 3 |
NF339- UHG C | Â | Â | Ex7: c.1007G > A p.Trp336X | Nonsense | Â |
NF339- UHG D | Â | Â | Ex15: c.2409 + 1G > A | Splice site | Â |
NF339- UHG A | Â | Â | Ex27b: c.4697T > A p.Leu1566X | Nonsense | Â |
T49.2 | Ex1-42: gene deletion | E1-42: gene deletion | Ex8: c.1177C > G p.His393Asp | Missense | Unpublished data, Cardiff |
T49.8 | Â | Â | Ex8: c.1178A > T p.His393Leu | Missense | Â |
T49.1 | Â | Â | Ex8: c.1181_1182delTT p.Phe394X | 2 bp deletion (FS) | Â |
T49.5 | Â | Â | Ex16: c.2446C > T p.Arg816X R | Nonsense | Â |
T49.7 | Â | Â | Ex17: c.2953C > T p.Gln985X | Nonsense | Â |
T49.3 | Â | Â | Ex24: c.4114_4115delGT p.Val1372X | 2 bp deletion (FS) | Â |
T51.3 | Whole gene deletion | Genomic deletion | Ex7: c.1062 + 1G > A R | Splice site | Unpublished data, Cardiff |
T51.6 | Â | Â | Ex8: c.1179_1180delCT p.Phe394LeufsX18 | 2 bp deletion (FS) | Â |
T51.5 | Â | Â | Ex11: c.1645_1646delCT p.Leu549AlafsX1 | 2 bp deletion (FS) | Â |
T51.4 | Â | Â | Ex16: c.2464G > T p.Gly822X | Nonsense | Â |
T51.7 | Â | Â | Ex41: c.7285C > T p.Arg2429X R | Nonsense | Â |
T176.3 | Large deletion | Genomic deletion | Ex23.2: c.4110 + 1G > C | Splice site | Unpublished data, Cardiff |
T176.1 | Â | Â | Ex28: c.4812C > G p.Tyr1604X R | Nonsense | Â |
T176.2 | Â | Â | Ex31: c.5928G > A p.Trp1976X R | Nonsense | Â |
T217 | Ex1: c.61-1G > C | Splice site | Ex12b: c.1900_1907del8 p.Ile634X | 8 bp deletion (FS) | Unpublished data, Cardiff |
T1440 | Ex3: c.264_267delTACA p.Thr89Trpfs | 4 bp deletion (FS) | Ex3: c.271G > A p.Glu91Lys | Missense | Unpublished data, Cardiff |
T183.1 | Ex4a: c.373delGinsATGTGT p.Arg125fs | Indel (FS) | Ex42: c.7449_7458del10 p.Leu2483IlefsX15 | 10 bp deletion (FS) | Unpublished data, Cardiff |
T139 | Ex4a: c.434_435delTC p.Leu145GlufsX19 | 2 bp deletion (FS) | Ex27a: c.4637C > G p.Ser1546X | Nonsense | Unpublished data, Cardiff |
T108.12 | Ex7: c.889-2A > G | Splice site | Ex7: c.910C > T p.Arg304X R | Nonsense | 25 |
T199.1 | Ex7: c.983_984delGT p.Cys328Xfs | 2 bp deletion (FS) | Ex4b: c.528T > A p.Asp176Glu | Missense | Unpublished data, Cardiff |
T374.5 | Ex10a: c.1318C > T p.Arg440X | Nonsense | Ex23.1: c.3916C > T p.Arg1306X R | Nonsense | Unpublished data, Cardiff |
T996 | Ex10b: c.1393-32T > C | Splice site | Ex6: c.731-11 T > G | Splice site | Unpublished data, Cardiff |
T227.3 | Ex10b: c.1423insC p.Leu475ProfsX9 | 1 bp insertion (FS) | Ex15: c.2326-12C > T | Splice site | Unpublished data, Cardiff |
T161.4 | Ex10b: c.1466A > G p.Tyr489Cys | Missense | Ex17: c.2990 + 1G > A R | Splice site | Unpublished data, Cardiff |
T161.3 | Ex10b: c.1466A > G p.Tyr489Cys | Missense | Ex22: c.3721insC p.Arg1241ProfsX7 | 1 bp insertion (FS) | Unpublished data, Cardiff |
T214 | Ex10b complete exon deletion | Single exon deletion | Ex22: c.3826C > T p.Arg1276X | Nonsense | Unpublished data, Cardiff |
CLJ8N | Ex13: c.2041C > T p.Arg681X | Nonsense | Ex13: c.2246C > G p.Ser749X | Nonsense | 6, 7 |
T170.1A | Ex13: c.2041C > T p.Arg681X | Nonsense | Ex12a: c.1797G > A p.Trp599X | Nonsense | Unpublished data, Cardiff |
T1243 | Ex13: c.2197_2214del17 p.Pro733fs | 17 bp deletion (FS) | Ex36: c.6709C > T p.Arg2237X | Nonsense | Unpublished data, Cardiff |
NF253- UHG D | Ex16: c.2850 + 2A > G | Splice site | Ex11: c.1663_1666delTTAG p.Leu555IlefsX12 | 4 bp deletion (FS) | 3 |
T193 | Ex17: c.2870delA p.Asp957Ilefs | 1 bp deletion (FS) | Ex10a: c.1312G > T p.Glu438X | Nonsense | Unpublished data, Cardiff |
L-004 D | Ex18: c.3113G > A p.Arg1038Lys | Missense | Ex27b: c.4729delA p.Thr1577LeufsX23 | 1 bp deletion (FS) | 3 |
HT1359.2 | Ex18: c.3113 + 1G > A | Splice site | Ex10a: c.1277G > A p.Trp426X R | Nonsense | Unpublished data, Cardiff |
T140.4 | Ex22: c.3732delT p.Thr1245LeufsX21 | 1 bp deletion (FS) | Ex41: c.7285C > T p.Arg2429X R | Nonsense | 25 |
T37.1 | Ex23.2: c.4084C > T p.Arg1362X | Nonsense | Ex10b: c.1467T > G p.Tyr489X | Nonsense | Unpublished data, Cardiff |
T205.1 | Ex24: c.4196C > A p.Ser1399X | Nonsense | Ex27a: c.4537C > T p.Arg1513X R | Nonsense | Unpublished data, Cardiff |
T450.3 | Ex27a: c.4537C > T p.Arg1513X | Nonsense | Ex4b: c.574C > T p.Arg192X R | Nonsense | Unpublished data, Cardiff |
T209.8 | Ex:28: c.4950 C > G p.Tyr1650X | Nonsense | Ex10a: c.1318 C > T p.Arg440X R | Nonsense | Unpublished data, Cardiff |
NF116- UHG A | Ex28: c.5122insG p.Ala1708GlyfsX27 | 1 bp insertion (FS) | Ex27a: c.4537C > T p.Arg1513X R | Nonsense | 3 |
T1308 | Ex29: c.5546 + 19 T > A | Splice site | Ex22: c.3827G > A p.Arg1276Gln | Missense | Unpublished data, Cardiff |
T149.5C | Ex34: c.6512delATGAGAGAinsC p.Tyr2171fs | Indel (FS) | Ex7: c.988G > A p.Ala330Thr | Missense | Unpublished data, Cardiff |
T89.1 | Ex37: c.6789_6792delTTAC p.Asp2264ThrfsX5 | 4 bp deletion (FS) | Ex12b: c.1888delG p.Val630X R | 1 bp deletion (FS) | 25 |
T106.1 | Ex37: c.6791insA p.Tyr2264XfsX1 | 1 bp insertion (FS) | Ex13: c.2033delC p.Pro678GlnfsX9 R | 1 bp deletion (FS) | 25 |
L-004 B | Ex37: c.6791insA p.Tyr2264XfsX1 | 1 bp insertion (FS) | Ex23.1: c.3871_3974del103 Complete exon 23.1 deletion ? | 103 bp deletion (FS) | 3 |
T1200 | Ex37: c.6791insA p.Tyr2264XfsX1 | 1 bp insertion (FS) | Ex16: c.2825G > T p.Ser942Ile | Missense | Unpublished data, Cardiff |
CLO1N | Ex37: c.6792C > A p.Tyr2264X | Nonsense | mRNA study: Exon 4c skipped | Splice site? | 6, 7 |
T1229 | Ex39: c.7049_7064del16 p.Cys2350PhefsX19 | 16 bp deletion (FS) | Ex13: c.2203T > C p.Tyr735His | Missense | Unpublished data, Cardiff |
T164.1E | Ex41: c.7285C > T p.Arg2429X | Nonsense | Ex23.2: c.4084C > T p.Arg1362X R | Nonsense | Unpublished data, Cardiff |
T157.1A | Ex45: c.7907 + 3A > T | Splice site | Ex20: c.3492delC p.Ile1165SerfsX2 | 1 bp deletion (FS) | Unpublished data, Cardiff |
T98.6 | 1.5 Mb deletion | Genomic deletion | Ex34: c.6387A > C p.Arg2129Ser | Missense | 25 |
T98 | Complete gene deletion | Genomic deletion | Ex20: c.3457_3460del4 p.Leu1153MetfsX3 | 4 bp deletion (FS) | Unpublished data, Cardiff |
T158.1 | Complete gene deletion | Genomic deletion | Ex18: c.3058delG p.Glu1020LysfsX2 R | 1 bp deletion (FS) | Unpublished data, Cardiff |
CCF1N | Complete gene deletion | Genomic deletion | mRNA study: exons 12a and 12b skipped | Splice site? | 5, 6 |
UWA128- 3 | NI | NI | Ex4b: c.543_546delGTAT p.Tyr182SerfsX7 | 4 bp deletion (FS) | 38 |
T219.1 | NI | NI | Ex9: c.1225_1226delGT p.Val409AlafsX18 | 2 bp deletion (FS) | Unpublished data, Cardiff |
T116 | NI | NI | Ex10c: c.1541_1542delAG p.Gln514ArgfsX43 | 2 bp deletion (FS) | 25 |
T198.1 | NI | NI | Ex10c: c.1555C > T p.Gln519X | Nonsense | Unpublished data, Cardiff |
T128.17 | NI | NI | Ex10c: c.1556A > C p.Gln519Pro R | Missense | 25 |
T198.2 | NI | NI | Ex12a: c.1792A > T p.Lys598X | Nonsense | Unpublished data, Cardiff |
T63.2 | NI | NI | Ex13: c.2088delG p.Trp696X | 1 bp deletion (FS) | 25 |
T146.5 | NI | NI | Ex15: c.2326G > A p.Ala776Thr R | Missense/ splicing? | Unpublished data, Cardiff |
T63.8 | NI | NI | Ex15: c.2341_2358del18 p.His781Ala (in-frame) | 18 bp deletion (in-frame) | 25 |
T1265.2 | NI | NI | Ex17: c.2851-16T > C | Splice site | Unpublished data, Cardiff |
T233.1 | NI | NI | Ex17: c.2879del38 p.Phe960X | 38 bp deletion (FS) | Â |
T158.2 | NI | NI | Ex18: c.3058delG p.Glu1020LysfsX2 R | 1 bp deletion (FS) | Â |
T158.4 | NI | NI | Ex18: c.3058delG p.Glu1020LysfsX2 R | 1 bp deletion (FS) | Â |
T192.1 | NI | NI | Ex18: c.3113 + 1G > A R | Splice site | Â |
T192.2 | NI | NI | Ex18: c.3113 + 1G > A R | Splice site | Â |
NF260-1 | NI | NI | Ex22: c.3721C > T p.Arg1241X R | Nonsense | 8 |
38 | NI | NI | Ex22: c.3727_3728delCT p.Leu1243GlyfsX5 | 2 bp deletion (FS) | 18 |
T94 | NI | NI | Ex23.2: c.4083insT p.Arg1362SerfsX12 | 1 bp insertion (FS) | 25 |
T565 | NI | NI | Ex25: c. 4270-2A > G | Splice site | Unpublished data, Cardiff |
T106.3 | NI | NI | Ex26: c.4374_4375delCC p.Asp1460X R | 2 bp deletion (FS) | 25 |
T81.1 | NI | NI | Ex27b: c.4662-5C > T | Splice site | 25 |
T1284.5 | NI | NI | Ex27b: c.4772 + 5G > A | Splice site | Unpublished data, Cardiff |
20 | NI | NI | Ex33: c.6253_6354 + 5del117 p.Val2085 (through splice site) | 17 bp deletion (FS) | 18 |
44 | NI | NI | Ex40: c.7127-44_7174del92 p.Gly2376ValfsX8 | 92 bp deletion (FS) | 18 |
PNFs | |||||
45 | Ex3: c.264_267delTACA p.Thr89TrpfsX8 | 4 bp deletion (FS) | Ex3: c.271G > A p.Glu91Lys | Missense | 10 |
T399 | Ex3: c.264_267delTACA p.Thr89TrpfsX8 | 4 bp deletion (FS) | Ex3: c.271G > T p.Glu91X | Nonsense | Unpublished data, Cardiff |
T7 | Ex4a: c.479 + 1G > A | Splice site | Ex16: c.2446C > T p.Arg816X R | Nonsense | 39 |
19 UK | Ex7: c.910C > T p.Arg304X | Nonsense | Ex8: c.1177_1178delCA p.His393LeufsX16 | 2 bp deletion (FS) | Unpublished data, Cardiff |
c3 UK | Ex8: c.1063-2A > G | Splice site | Ex7: c.910C > T p.Arg304X R | Nonsense | Â |
14b | Ex13: c.2076C > G p.Tyr692X | Nonsense | Ex4b: c.532_558del27 p.Glu178 R | 27 bp deletion (in-frame) | Â |
T318 | Ex13: c.2076C > G p.Tyr692X | Nonsense | Ex4b: c.532_558del27 p.Glu178 R | 27 bp deletion (in-frame) | Â |
T381.1 | E18: c.3113 + 1G > A | Splice site | Ex10a: c.1277G > A p.Trp426X R | Nonsense | Â |
T381.2 | Â | Â | Ex18: c.3113 + 1G > A R | Splice site | Â |
31 | Ex29: c.5234C > G p.Ser1745X | Nonsense | Ex9: c.1246C > T p.Arg416X | Nonsense | Â |
c4 UK | Ex33: c.6289_6290insA p.Leu2097fsX2 | 1 bp insertion (FS) | Ex27b: c.4706T > G p.Leu1569X R | Nonsense | Â |
T155 | Ex33: c.6291insA p.Leu2097XfsX9 | 1 bp insertion (FS) | Ex27b: c.4706T > G p.Leu1569X R | Nonsense | Â |
24 | Complete gene deletion | Genomic deletion | Ex4b: c.528T > A p.Asp176Glu | Missense | Unpublished data, Cardiff |
T323 | Complete gene deletion (1.4 Mb ?) | Genomic deletion | Ex26: c.4501_4502delCT p.Leu1501PhefsX7 R | 2 bp deletion (FS) | Â |
T369 | Complete gene deletion (1.4 Mb ?) | Genomic deletion | Ex26: c.4501_4502delCT p.Leu1501PhefsX7 R | 2 bp deletion (FS) | Â |
c2 UK | NI | NI | Ex23.2: c.4083insT p.Arg1362SerfsX12 | 1 bp insertion (FS) | Unpublished data, Cardiff |
42 | NI | NI | Ex27a: c.4515-2A > G | Splice site | Â |
T329 ? | NI | NI | Ex7: c.952_953delGA p.Glu318LysfsX11 | 2 bp deletion (FS) | Â |
Spinal neurofibromas | |||||
1 | Ex7: c.899T > C p.Leu300Pro | Missense | Ex24: c.4111-2A > G | Splice site | 16 |
13 | 1.4 Mb deletion | Genomic deletion | Ex21_22 splice site mutation? | Splice site? | Â |
6 | 1.4 Mb deletion | Genomic deletion | Ex27b: c.4690A > G p.Lys1564Glu | Missense | Â |
MPNSTs | |||||
53 | Ex4b: c.574C > T p.Arg192X | Nonsense | Ex24: c.4203insT p.Glu1402X | 1 bp insertion (FS) | 18 |
T168 | Ex5: c.663G > A p.Trp221X | Nonsense | Ex34: c.6444delA p.Val2149SerfsX28 | 1 bp deletion (FS) | Â |
T185 | Ex6: c.773delA p.Ser259AlafsX21 | 1 bp deletion (FS) | Ex34: c.6410delT p.Leu2137TyrfsX41 | 1 bp deletion (FS) | Â |
37 | Ex16: c.2446C > T p.Arg816X | Nonsense | Ex6: c.731-5_741del19 through a splice site | 19 bp deletion (FS) | Â |
17 | Ex20: c.3457_3460delCTCA p.Leu1153MetfsX4 | 2 bp deletion (FS) | Ex31: c.5789delC p.Pro1930HisfX6 | 1 bp deletion (FS) | 17 |
20 | 1.4 Mb deletion | Genomic deletion | Ex10c: c.1532delC p.Pro511GlnfsX14 | 1 bp deletion (FS) | 17 |
44 | Complete gene deletion | Genomic deletion | Ex16: c.2446C > T p.Arg816X R | Nonsense | 18 |
T184 | Segmental NF NI | NI | Ex27a: c.4580_4590del11 p.Pro1527GlnfsX11 R | 11 bp deletion (FS) | 18 |
11 | NI | NI | Ex27a: c.4580_4590del11 p.Pro1527GlnfsX11 R | 11 bp deletion (FS) | 17 |
38 | NI | NI | Ex12a: c.1831delCinsTT p.Leu611PhefsX3 | Indel (FS) | 18 |
GISTs | |||||
NF1-1a | Ex24: c.4269 + 1G > T | Splice site | Ex29: c.5546 + 2T > A | Splice site | 3 |
NF1-1b | Â | Â | Ex29: c.5242C > T p.Arg1748X R | Nonsense | Â |
NF1-2a | Ex37: c.6791insA p.Tyr2264X | 1 bp insertion (FS) | Ex3: c.279T > A p.Cys93X | Nonsense | 3 |
NF1-2c | Â | Â | Ex10c: c. del21 | 21 bp in-frame deletion | Â |
NF1-2b | Â | Â | Ex45: c.7846C > T p.Arg2616X | Nonsense | Â |
JMML | |||||
D127 | Ex14: c.2288_2295dupTGAGGCGC /Ex20: c.3366delT | Compound heterozygous NF1mutations found in blood cells | Ex14: c.2288_2295dupTGAGGCGC /Ex20: c.3366delT | Compound heterozygous NF1mutations found in blood cells | 31 |
CZ051 | Ex12a: c.1748A > G p.Lys583Arg/Ex13: c.2027delC p.T676TfsX11 | Â | Ex12a: c.1748A > G p.Lys583Arg/Ex13: c.2027delC p.T676TfsX11 | Â | Â |
D530 | Ex6: c.821T > G p.Leu274Arg /Ex34: c.6579 + 1G > C | With no other tissue analysed, unable to differentiate germline from somatic NF1mutations | Ex6: c.821T > G p.L274R/ Ex34: c.6579 + 1G > C | With no other tissue analysed, unable to differentiate germline from somatic NF1mutations | 32 |
SC049 | Ex3: c.205-2A > G/Ex23.2: c.4084C > T p.Arg1362X | Â | Ex3: c.205-2A > G/Ex23.2: c.4084C > T p.R1362X | Â | Â |
SCO87 | Ex4b: c.482T > G p.Leu161X /Ex4b: c.495_498delTGTT p.T165TfsX11 | Â | Ex4b: c.482T > G p.L161X/ Ex4b: c.495_498delTGTT p.T165TfsX11 | Â | Â |
D252 | NI | NI | Ex29: c.5242C > T p.Arg1748X R | Nonsense | Â |
Glomus tumours | |||||
NF1-G8 | Ex4a: c.311T > G p.Leu104X | Nonsense | Ex44: c.7727C > A p.Ser2576X | Nonsense | 36 |
NF1-G3 | Ex16: c.2546insG p.Val850SerfsX15 | 1 bp insertion (FS) | Ex29: c.5539_5546dup8 p.Ser1850ValfsX15 | 8 bp duplication (FS) | Â |
NF1-G5 | Ex27a: c.4515-2A > T | Splice site | Ex18: c.3113 + 1G > C | Splice site | Â |
NF1-G1 | mRNA study: Exon 29 partially skipped | Splice site? | Ex4a: c.403delC p.Arg135GlyfsX30 | 1 bp deletion (FS) | Â |
NF1- G10a | Ex37: c.6789_6792delTTAC p.Tyr2264AspfsX5 | 4 bp deletion (FS) | Ex2: c.204 + 1G > A | Splice site | Â |
NF1- G10b | Â | Â | Ex43: c.7600_7621del22 p.Lys2534GlyfsX8 | 22 bp deletion (FS) | Â |
ACs | |||||
 | No NF1 somatic mutations identified |  | No NF1 somatic mutations identified |  |  |
Gastric carcinoid tumours | |||||
 | No NF1 somatic mutations identified |  | No NF1 somatic mutations identified |  |  |
PCs | |||||
 | No NF1 somatic mutations identified |  | No NF1 somatic mutations identified |  |  |