Our verdict is Likely benign. Variant got -1 ACMG points: 3P and 4B. PM2_SupportingPM5BP4_Strong
The NM_000418.4(IL4R):c.223A>C(p.Ile75Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD Genomes project. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I75V) has been classified as Pathogenic.
Verdict is Likely_benign. Variant got -1 ACMG points.
GnomAD3 genomesCov.: 33
ClinVarNot reported in
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