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Table 2 Description of rare polymorphisms detected in homozygosity in the DSRCT patient. All variants were validated by sanger sequencing

From: A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease

Gene symbol cDNA change Protein change Type dbSNP (MAF) Patient (Frequency/ Coverage) Mother (Frequency/ Coverage) Father (Frequency/ Coverage) Polyphen Sift Mutation Taster
VEZT c.1486G > A p.V496I Missense rs10507051 (0.0302) 100% / 17 17.9% / 28 35.0% / 80 PD T DC
ISX c.248G > A p.R83Q Missense rs8140287 (0.0308) 100% / 13 37.5% / 24 50.0% / 70 PrD T DC
RASSF1 c.409G > T p.A137S Missense rs2073498 (0.0711) 83.3% / 12 27.5% / 40 53.1% / 32 B T P
ADAMTS12 c.3529 T > C p.W1177R Missense rs3813474 (0.0513) 100% / 51 42.0% / 88 45.0% / 40 B T P
  1. MAF Minor allele frequency, PrD Probably damaging, B Benign, PD Possibly damaging, D Damaging, T Tolerated, DC Disease causing, P Polymorphism. (*) low confidence prediction