16-27344903-G-A
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_000418.4(IL4R):c.244G>A(p.Ala82Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00588 in 1,614,220 control chromosomes in the GnomAD database, including 321 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_000418.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00911 AC: 1387AN: 152250Hom.: 46 Cov.: 32
GnomAD3 exomes AF: 0.0127 AC: 3191AN: 251248Hom.: 113 AF XY: 0.0119 AC XY: 1617AN XY: 135784
GnomAD4 exome AF: 0.00555 AC: 8107AN: 1461852Hom.: 275 Cov.: 40 AF XY: 0.00541 AC XY: 3934AN XY: 727226
GnomAD4 genome AF: 0.00910 AC: 1387AN: 152368Hom.: 46 Cov.: 32 AF XY: 0.0126 AC XY: 937AN XY: 74504
ClinVar
Submissions by phenotype
IL4R-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at