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Table 2 Summarization of SHANK3 gene variants in 9 patients with PMS

From: A 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes

Patient Variant locationa Variant type Protein change Inheritance Literature report MutationTaster ACMG classification
P7 c.3120delC Frameshift p. Gly1041Alafs*37(Het) NK Disease causing Likely pathogenic
P10 c.3372dupC Frameshift p. Ser1125Leufs*171(Het) De novo Disease causing Pathogenic
P11 c.3526G > T Nonsense p. Glu1176*(Het) De novo Disease causing Pathogenic
P12 c.4086_4087delAC Frameshift P. Arg1363Glnfs*31(Het) NK Nature. 2017;542(7642):433–438 Disease causing Pathogenic
P13 c.3679dupG Frameshift p. Ala1227Glyfs*69(Het) De novo Nat Genet. 2007;39(1):25‐27 Disease causing Pathogenic
P14 c.3679dupG Frameshift p. Ala1227Glyfs*69(Het) NK Nat Genet. 2007;39(1):25‐27 Disease causing Pathogenic
P22 c.3088delC Frameshift p. Leu1030Cysfs*48(Het) De novo Disease causing Pathogenic
P24 c.3942delC Frameshift p. Ser1315fs*71(Het) De novo Disease causing Pathogenic
P28 c.3838_3839insGG Frameshift p. V1280Gfs*5(Het) De novo Disease causing Pathogenic
  1. NK not known, * the stop codon, ACMG American College of Medical Genetics and Genomic
  2. aNM_033517.1
  3. bNP_277052.1