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Table 1 Features of variants identified in this study

From: Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias

Gene Exon Nucleotide change Amino acid change Mutation type 1000 Genomes ExAc In-house data
SACS 10 c.7802T > A p.V2601D Missense 0 0 0
SACS 10 c.7901A > C p.D2634A Missense 0 0 0
SACS 10 c.8000T > C p.F2667S Missense 0 0 0
SACS 10 c.8793dupA p.R2932fs Insertion 0 0.000008 0
SACS 10 c.10685_10689del p.F3562fs Deletion 0 0 0
SACS 10 c.10938_10941del p.K3646fs Deletion 0 0 0
SACS 10 c.11274_11276del p.3758_3759del Deletion 0 0 0
SACS 10 c.11319_11321del p.3773_3774del Deletion 0 0 0
SACS and 5 others - chr13:23490196-24866656 del Deletion 0 0 0
SYNE1 5 c.253C > T p.R85X Nonsense 0 0.000008 0
SYNE1 10 c.909 + 1G > A Splicing 0 0 0
SYNE1 27 c.3280A > T p.K1094X Nonsense 0 0 0
SYNE1 57 c.9158delA p.E3053fs Deletion 0 0 0
SYNE1 65 c.10435C > T p.R3479X Nonsense 0 0 0
SYNE1 82 c.15817delG p.E5273fs Deletion 0 0 0
SYNE1 93 c.17531_17532insTC p.H5844fs Insertion 0 0 0
SYNE1 114 c.20837delT p.L6946fs Deletion 0 0 0
SYNE1 131 c.23765 + 1G > A Splicing 0 0 0
ADCK3 6 c.812G > A p.R271H Missense 0 0.000048 0
ADCK3 7 c.901C > T p.R301W Missense 0 0.000033 0
ADCK3 8 c.960delG p.L320fs Deletion 0 0.000009 0
ADCK3 10 c.1228C > T p.R410X Nonsense 0 0.000017 0
ADCK3 15 c.1793G > A p.R598H Missense 0 0.000008 0
ADCK3 15 c.1844dupG p.S616fs Insertion 0 0.000082 0
SETX 3 c.128G > A p.C43Y Missense 0 0 0
SETX 10 c.4818_4821dupAATT p.A1608fs Insertion 0 0 0
SETX 10 c.5267T > C p.F1756S Missense 0 0.000009 0
SETX 23 c.7011delT p.V2337fs Deletion 0 0 0
SETX 26 c.7364A > G p.Y2455C Missense 0 0.000008 0
ANO10 2 c.132dupA p.D45fs Insertion 0.000599 0.000441 0
SPTBN2 2 c.73C > T p.R25C Missense 0 0 0
SPTBN2 6 c.622G > A p.G208R Missense 0 0 0
STUB1 3 c.433A > C p.K145Q Missense 0.000599 0.000702 0
STUB1 3 c.433_435delAAG p.K145del Deletion 0 0.000017 0
TTPA 4 c.553G > T p.D185Y Missense 0.000199 0 0
ATM 20 c.2922_2923insAA p.S974fs Insertion 0 0 0
ATM 45 c.6503C > T p.S2168L Missense 0.000200 0.000058 0.001754
KIF1C 23 c.2663_2664insGAGGT p.V888fs Insertion 0 0 0
Gene Predicted impact dbSNP HGMD Family Segre-gation ACMG
Evidence Classification
SACS D/P/D NA Novel NA PM1,PM2,PP3,PP4 LP
SACS D/D/A NA Novel Yes PM1,PM2,PP1,PP3,PP4 LP
SACS D/D/D NA Novel Yes PM2,PM3,PP1,PP3,PP4 LP
SACS NA/NA/NA rs767871841 Novel Yes PVS1,PM2,PP1,PP4 P
SACS NA/NA/NA NA Novel Yes PVS1,PM2,PP1,PP4 P
SACS NA/NA/NA NA Novel Yes PVS1,PM2,PP1 P
SACS NA/NA/NA rs1454517884 Known Yes PM2,PM4,PP1,PP5 LP
SACS NA/NA/NA NA Novel Yes PM2,PM4,PP1,PP4 LP
SACS and 5 others NA/NA/NA NA Novel Yes 1A,2A,3A,4A,5A P
SYNE1 NA/NA/A rs768958602 Novel Yes PVS1,PM2,PP1,PP3 P
SYNE1 NA/NA/NA NA Novel Yes PVS1,PM2,PP1,PP3 P
SYNE1 NA/NA/A NA Novel Yes PVS1,PM2,PM3,PP1 P
SYNE1 NA/NA/NA NA Novel NA PVS1,PM2 LP
SYNE1 NA/NA/A NA Novel Yes PVS1,PM2,PP1,PP3 P
SYNE1 NA/NA/NA NA Novel Yes PVS1,PM2,PM3,PP1 P
SYNE1 NA/NA/NA NA Novel Yes PVS1,PM2,PM3,PP1 P
SYNE1 NA/NA/NA NA Novel Yes PVS1,PM2,PP1 P
SYNE1 NA/NA/D NA Novel Yes PVS1,PM2,PP1,PP3 P
ADCK3 D/D/D rs765859566 Novel Yes PM2,PP1,PP3 VUS
ADCK3 D/D/D rs140246430 Known Yes PS1,PM2,PP1,PP3,PP5 LP
ADCK3 NA/NA/NA rs767164059 Novel Yes PVS1,PM2,PP1 P
ADCK3 NA/NA/A rs753254213 Known Yes PVS1,PM2,PP1,PP3,PP5 P
ADCK3 D/D/D rs766101783 Novel Yes PM2,PM3,PP1,PP3 LP
ADCK3 NA/NA/NA rs863223885 Known Yes PVS1,PM2,PP1,PP5 P
SETX D/D/D NA Novel Yes PM2,PM3,PP1,PP3 LP
SETX NA/NA/NA NA Novel Yes PVS1,PM2,PP1 P
SETX D/D/D rs762175796 Known Yes PS1,PM2,PM3,PP1,PP3, PP5 P
SETX NA/NA/NA NA Novel Yes PVS1,PM2,PP1 P
SETX D/D/D rs778210918 Novel NA PM2,PP3,PP4 VUS
ANO10 NA/NA/NA rs540331226 Known Yes PVS1,PS1,PM2,PP1,PP5 P
SPTBN2 D/D/D NA Novel Yes PM1,PM2,PP1,PP3 LP
SPTBN2 D/D/D NA Novel Yes PM1,PM2,PP1,PP3 LP
STUB1 T/P/D rs146251364 Known Yes PS1,PM1,PM2,PP1,PP5 P
STUB1 NA/NA/NA rs779647632 Known Yes PS1,PM2,PM3,PM4,PP1 P
TTPA D/D/D rs564501015 Novel Yes PM1,PM2,PP1,PP3 LP
ATM NA/NA/NA NA Novel Yes PVS1,PM2,PP1 P
ATM D/D/D rs200431631 Known Yes PM1,PM2,PM3,PP1,PP5 LP
KIF1C NA/NA/NA NA Novel Yes PVS1,PM2,PP1 P
  1. In-house data: n = 2000. The impact of non-synonymous protein-coding region variants was determined using prediction software including SIFT, PolyPhen-2 and Mutation Taste. SIFT results as Tolerated (T) or Deleterious (D). PolyPhen-2 results as Unknown (UN), Benign (B), Possibly Damaging (P) or Probably Damaging (D). Mutation Taste results as Tolerated (T), Disease causing (D) and Disease causing automatic (A). NA, Not available. ACMG, American College of Medical Genetics. ACMG evidence by reference to the ACMG standards and guidelines. ACMG classification including Pathogenic (P), Likely pathogenic (LP) and Uncertain significance (VUS)