rs1805016
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000418.4(IL4R):āc.2254T>Gā(p.Ser752Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0647 in 1,613,744 control chromosomes in the GnomAD database, including 6,244 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 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.
Frequency
Consequence
NM_000418.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IL4R | NM_000418.4 | c.2254T>G | p.Ser752Ala | missense_variant | 11/11 | ENST00000395762.7 | NP_000409.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IL4R | ENST00000395762.7 | c.2254T>G | p.Ser752Ala | missense_variant | 11/11 | 1 | NM_000418.4 | ENSP00000379111.2 |
Frequencies
GnomAD3 genomes AF: 0.123 AC: 18643AN: 151956Hom.: 2246 Cov.: 32
GnomAD3 exomes AF: 0.0637 AC: 15957AN: 250646Hom.: 1149 AF XY: 0.0591 AC XY: 8019AN XY: 135682
GnomAD4 exome AF: 0.0587 AC: 85792AN: 1461672Hom.: 3987 Cov.: 34 AF XY: 0.0579 AC XY: 42102AN XY: 727152
GnomAD4 genome AF: 0.123 AC: 18690AN: 152072Hom.: 2257 Cov.: 32 AF XY: 0.118 AC XY: 8764AN XY: 74336
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at