Table 2.
Summarization of SHANK3 gene variants in 9 patients with PMS
| 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 |
NK not known, * the stop codon, ACMG American College of Medical Genetics and Genomic