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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.