rs2236757
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001289125.3(IFNAR2):c.541-50A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.694 in 1,577,648 control chromosomes in the GnomAD database, including 383,727 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001289125.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.701 AC: 106528AN: 151974Hom.: 37836 Cov.: 32
GnomAD3 exomes AF: 0.643 AC: 140987AN: 219242Hom.: 46455 AF XY: 0.644 AC XY: 76072AN XY: 118120
GnomAD4 exome AF: 0.693 AC: 988191AN: 1425556Hom.: 345865 Cov.: 33 AF XY: 0.690 AC XY: 487679AN XY: 706452
GnomAD4 genome AF: 0.701 AC: 106605AN: 152092Hom.: 37862 Cov.: 32 AF XY: 0.690 AC XY: 51311AN XY: 74340
ClinVar
Submissions by phenotype
Mortality risk in patients with severe coronavirus disease (COVID-19) Uncertain:1
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not specified Benign:1
This variant is classified as Benign based on local population frequency. This variant was detected in 83% of patients studied by a panel of primary immunodeficiencies. Number of patients: 79. Only high quality variants are reported. -
Immunodeficiency 45 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at