FGFR4 c.1162G > A (p.Gly388Arg) Polymorphism Analysis in Turkish Patients with Retinoblastoma

Table 1

Characteristics of FGFR4 p.Gly388Arg variant.

Genes	Exon	Variants	Rs number	Type of variants	Primary region of effected in COSMIC	Cited cancer in COSMIC	MAF	SIFT^a	PolyPhen^b	ClinVar
FGFR4 (NM_002011.4)	Exon 9	c.1162G > A (p.Gly388Arg)	rs351855	missense_variant	Thyroid, soft tissue, soft tissue	Others, rhabdomyosarcoma, hemangioblastoma	0.3209	Tolerated (0.2)	Possibly damaging (0.742)	Pathogenic

^aSIFT value predication ranges from 0 to 1. Prediction of damaging or tolerated if the score shows ≤0.05 or >0.05, respectively. ^bPolyphen value predication ranges from 0 to 1. A variant is appraised qualitatively, as benign (0.00–0.15), possibly damaging (0.16–0.85), or probably damaging (0.86–1.00). COSMIC, Catalogue of Somatic Mutations in Cancer; MAF; minor allele frequency from the ExAC and gnomAD datasets; na, not available.