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Table 3 RB1 variants identified by targeted NGS in tumor samples of RB patient

From: Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma

Patient no cDNA change Amino acid change Functional consequence
RB9 c.380G > A/c.1363C > T p.S127N/p.R455X Missense-Altered splicing/Premature Protein Termination
RB10 c.763C > T* p.R255X* Premature Protein Termination
RB12 c. 1072C > T* p.R358X* Premature Protein Termination
RB22 c.1732_1733delGinsTT* p.D578LfsX6 * Frameshift
RB29 c.1654C > T* p.R552X* Premature Protein Termination
RB31 c.409 G > T/c.751 C > T p.E137X/p.R251X Premature Protein Termination Premature Protein Termination
  1. Novel variant is marked in bold. In patients RB10, RB12, RB22 and RB29, homozygous variants (marked with *) were identified. All the variants given in the table were somatic variants as they were detected only in patient’s tumor but not in blood samples of patient and family members.