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. 2022 Jun 23;13(7):1130. doi: 10.3390/genes13071130

Table 1.

Molecular characteristics of the NF1 cohort, according to clinical groups (G1–G5).

ID Clinical Group Nucleotide
Change		 Amino Acid
Change		 Exon/
Intron		 Mutation Type CS Ref. FH ClinVar/
HGMD/
LOVD		 PD
NF_2 G1 c.3G>A p.? 1 Start lost P [39,40] Pat LOVD:
NF1_001130		 -
NF_54 G1 c.1639G>T p.Glu547* 14 Nonsense P [39] - LOVD:
NF1_001185		 CSRD
NF_68 G1 c. 6792C>A p.Ala2253_Lys2286del 46 Splicing
affected		 P [41,42,43] - LOVD:
NF1_000816		 HLR
NF_83 G1 c.5673T>G p.Ser1891Arg 39 Missense - - - LOVD:
NF1_002964		 HLR
NF_89 G1 c.(4661+1_4662-1)_(7258+1_7259-1)dup - - Duplication - - - NR Sec14-PH /HLR
NF_1 G2 c.(586+1_587-1)_(730+1_731-1)del - 6,7 Deletion P [44,45] Unk - -
NF_3 G2 c.3G>A p.? 1 Start lost P [39,40] Unk LOVD:
NF1_001130		 -
NF_4 G2 c.3G>A p.? 1 Start lost P [39,40] Pat LOVD:
NF1_001130		 -
NF_5 G2 c.1595T>G p.Leu532Arg 14 Missense P [36,40] Pat LOVD: NF1_002498 -
NF_8 G2 c.7884_7885del p.(Phe2629Serfs*9) - Frameshift - - - NR SBR
NF_10 G2 c.3826C>T p.Arg1276* 28 Nonsense P [34,46] Mat ClinVar:
variation ID
237556		 GRD
NF_11 G2 c.3826C>T p.Arg1276* 28 Nonsense P [34,46] Unk ClinVar:
variation ID
237556		 GRD
NF_13 G2 c.6892_6897del p.Ala2300_Val2301del - Deletion - [36] - - HLR
NF_20 G2 c.1783_1784del p.Glu595fs 16 Frameshift P [39] - LOVD:
NF1_001194		 CSRD
NF_21 G2 c.(?_-383)_(*3522_?)del
(whole NF1 deletion)		 - - Deletion P [27,47,48,49,50,51] Mat - -
NF_25 G2 c.3496+1G>A p.Tyr1106Leufs*28 26 Frameshift - [36] Mat HGMD: CS072245 TBD
NF_28 G2 c.1A>G p.? 1 Missense P [52,53,54] Pat LOVD:
NF1_000140		 -
NF_30 G2 c.3728T>C p.Leu1243Pro 28 Missense LP [36] Pat LOVD:
NF1_001544		 GRD
NF_38 G2 c.4768C>T p.Arg1590Trp 36 Missense VOUS [36,55,56,57,58,59] - HGMD: CM971051 Sec14-PH
NF_40 G2 c.1466A>G p.Tyr489Cys 13 Splicing
affected		 P [41,54,60,61,62,63] Pat LOVD:
NF1_000063		 -
NF_43 G2 c.2352G>C p.Trp784Cys 20 Missense P [36,64,65] Pat LOVD: NF1_001853 CSRD
NF_45 G2 c.2307dup p.Thr770Hisfs*6 19 Frameshift - [36] Pat - CSRD
NF_46 G2 c.2307dup p.Thr770Hisfs*6 19 Frameshift - [36] Pat - CSRD
NF_47 G2 c.2307dup p.Thr770Hisfs*6 19 Frameshift - [36] Pat - CSRD
NF_48 G2 c.1A>G p.? 1 Missense P [52,53,54] - LOVD:
NF1_000140		 -
NF_50 G2 c.3497_3974del - - Deletion - [36,54,66,67] - - GRD
NF_51 G2 c.4381dup p.Ile1461Asnfs*4 34 Frameshift P [68] Pat LOVD:
NF1_001553		 GRD
NF_53 G2 c.1378dup p.Ile460Asnfs*10 12 Frameshift - [36] - - -
NF_56 G2 c.2409+1G>
Ac.2375T>A		 p.?
p.Leu792His		 20i Splicing
affected
Missense		 P
LP		 [62,69]
-		 - LOVD:
NF1_000203
ClinVar:
variation ID
665425		 -
CSRD
NF_57 G2 c.1381C>T p.Arg461* 12 Nonsense P [42,53,61,70,71,72] - LOVD:
NF1_000056		 -
NF_59 G2 c.4270-2A>G p.Ile1424_Gln1426del 32i Splicing
affected		 P [73,74] Mat LOVD:
NF1_000479		 GRD
NF_61 G2 4367+2T>C p.? - Splicing
affected		 LP - Pat ClinVar:
variation ID
527560		 -
NF_62 G2 c.1260+1G>A p.Ser421fs 11i Splicing
affected		 P [75,76] Pat LOVD:
NF1_000036		 -
NF_63 G2 c.4733C>A p.(Ser1578Tyr) - Missense - - Unk NR Ses14-PH
NF_66 G2 c.2665 A>G p.Thr889Ala - Missense VOUS - - ClinVar:
variation ID
527580		 CSRD
NF_71 G2 c.2409+1G>C p.? 20i Splicing
affected		 P [69,77] Pat LOVD:
NF1_000204		 -
NF_77 G2 c.2326G>A p.Ala776_Gln803del - Splicing
affected		 - [36] - - CSRD
NF_80 G2 c.4278G>C p. Gln1426His 33 Missense P [36,78] Pat ClinVar:
variation ID
233115		 GRD
NF_86 G2 c.4923G>A p.Trp1641* - Nonsense P [52] Pat LOVD:
NF1_001303		 Sec14-PH
NF_90 G2 c.(4661+1_4662-1)_(7258+1_7259-1)dup - - Duplication - - Mat NR Sec14-PH /HLR
NF_94 G2 c.2252-3T>G P.? - Splicing
affected		 P [79] - ClinVar:
variation ID
374022		 -
NF_96 G2 c.(?_-383)_(*3522_?)del
(whole NF1 deletion)		 - - - P [27,47,48,49,50,51] - - -
NF_100 G2 c.4537C>T p.Arg1513* 35 Nonsense P [42,63,80,81,82,83,84] - LOVD:
NF1_000521		 GRD
NF_102 G2 c.1381C>T p.Arg461* 12 Nonsense P [41,42,53,61,70,71,72] Pat LOVD:
NF1_000056		 -
NF_103 G2 c.2251 G>C p.Asp668Glufs*9 - Frameshift - [36] + - CSRD
NF_18 G3 c.3326T>G p.Leu1109* 26 Nonsense - [36] - - TBD
NF_52 G3 c.4309G>T p.(Glu1437*) - Nonsense - - - NR GRD
NF_127 G3 c.2540T>G p.Leu847Arg 21 Missense P [24,30,38,53,61,65,70,85,86,87,88] - ClinVar:
variation ID
573019		 CSRD
NF_6 G4 c.479+5G>A p.Leu94fs 4i Frameshift P [55,89] Mat ClinVar:
variation ID
237521		 -
NF_17 G4 c.6364+4A>G p.Val2029Lysfs*7 41i Splicing
affected		 - [36] - HGMD: CS941517 HLR
NF_26 G4 c.1246C>T p.Arg416* 11 Nonsense P [70,90] - LOVD:
NF1_000034		 -
NF_35 G4 c.4269+2T>C p.? 32i Splicing
affected		 P [36] Pat - -
NF_36 G4 c.6335T>C p.Leu2112Pro 42 Missense P [36] - LOVD: NF1_000756 HLR
NF_37 G4 c.(?_-383)_(*3522_?)del
(whole NF1 deletion)		 - - Deletion P [27,47,48,49,50,51] - - -
NF_41 G4 c.1499_1501delinsAAA p.Ile500_His501delinsLysAsn 13 INDEL - [36] - - -
NF_60 G4 c.1756_1759del p.Thr586Valfs*18 16 Frameshift P [42,62,91,92,93,94,95,96] Pat LOVD:
NF1_000113		 CSRD
NF_65 G4 c.(?_-383)_(*3522_?)del
(whole NF1 deletion)		 - - Deletion P [27,47,48,49,50,51] Mat - -
NF_67 G4 c.6084+1G>A p.? - Splicing
affected		 P [38,39,43,70,71,97] Pat ClinVar:
variation ID
404489		 -
NF_70 G4 c.2409+1G>C p.? 20i Splicing
affected		 P [69,77] Pat LOVD:
NF1_000204		 -
NF_72 G4 c.7884_7885del p.(Phe2629Serfs*9) - Frameshift - - Pat NR SBR
NF_76 G4 c.1845+1_1845+5del p.Ala548_Lys615del 16 Splicing
affected		 P [68,70] - LOVD:
NF1_001511		 CSRD
NF_81 G4 c.5819del p.(Lys1940Serfs*18) - Frameshift - - Unk NR HLR
NF_82 G4 c.8051-1 G>C p.? - Splicing
affected		 - [36] - - -
NF_85 G4 c.6621dup p.(Trp2208Valfs*13) - Frameshift - - - NR HLR
NF_99 G4 c.2851G>T p.Val951Phe 22 Missense LP [68] Mat LOVD:
NF1_001526		 -
NF_115 G4 c.2446C>T p.Arg816* 21 Nonsense P [56,70,98] - LOVD:
NF1_000214		 CSRD
NF_15 G5 c.2619dup p.Lys874* 21 Nonsense P [41,60] - ClinVar:
variation ID
404563		 CSRD
NF_19 G5 c.3826C>T p.Arg1276* 28 Nonsense P [34,46] Mat LOVD:
NF1_000403		 GRD
NF_22 G5 c.4982_4983del p.Cys1661* 37 Nonsense P - - LOVD:
NF1_000602		 Sec14-PH
NF_23 G5 c.3496+1G>A p.Tyr1106Leufs*28 26 Frameshift - [36] Unk HGMD: CS072245 TBD
NF_29 G5 c.1595T>G p.Leu532Arg 14 Missense P [36,40] Pat LOVD: NF1_002498 -
NF_31 G5 c.7686delG p.Ile2563Phefs*40 53 Frameshift P [36,99] Pat LOVD: NF1_002529 CTD
NF_32 G5 c.7686delG p.Ile2563Phefs*40 53 Frameshift P [36,99] Pat LOVD: NF1_002529 CTD
NF_39 G5 c.1009G>T p.Glu337* - Nonsense - - Pat ClinVar:
439994		 -
NF_42 G5 c.3502-3519del p.Gly1169-Leu1173del - - - [36] Mat - TBD
NF_55 G5 c.4537C>T p.Arg1513* 35 Nonsense P [41,42,63,80,81,82,83,84] - LOVD:
NF1_000521		 GRD
NF_73 G5 c.4923G>A p.Trp1641* 37 Nonsense P [52] Unk LOVD:
NF1_001303		 Sec14-PH
NF_78 G5 c.2329T>C p.Trp777Arg 20 Missense P [1,39,100] Mat LOVD:
NF1:000186		 CSRD
NF_79 G5 c.3916C>T
c.1975C>T		 p.Arg1306*
p.Arg659Trp		 29
17		 Nonsense
Missense		 P
VOUS		 [41,54,67,70,91,101,102][98] - LOVD:
NF1_000416
LOVD:
NF1_002592		 GRD
CSRD
NF_87 G5 c.7259C>A p.Ala2420Asp 50 Missense - - - LOVD:
NF1_000867		 HLR
NF_92 G5 c.4278G>C p.Gln1426His 33 Missense P [36,78] Pat ClinVar:
Variation ID 233115		 GRD
NF_97 G5 c.4515-2A>G p.? 34i Splicing
affected		 P - Mat LOVD:
NF1_000518		 -
NF_98 G5 c.7089dup p.Asn2364* 48 Nonsense - - - LOVD:
NF1_001359		 HLR
NF_101 G5 c.1329delT p.Phe443Leufs*29 - Frameshift - [36,103,104] - - -
NF_105 G5 c.7532C>T p.(Ala2532Val) - Missense - - Mat NR CTD