rs4664463
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 0P and 18B. BP4_ModerateBP6_Very_StrongBA1
The NM_022168.4(IFIH1):c.874+109A>G variant causes a intron change. The variant allele was found at a frequency of 0.071 in 631,002 control chromosomes in the GnomAD database, including 6,632 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_022168.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -18 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.152 AC: 22994AN: 151750Hom.: 4212 Cov.: 32
GnomAD4 exome AF: 0.0452 AC: 21663AN: 479132Hom.: 2378 AF XY: 0.0411 AC XY: 10418AN XY: 253272
GnomAD4 genome AF: 0.152 AC: 23112AN: 151870Hom.: 4254 Cov.: 32 AF XY: 0.152 AC XY: 11263AN XY: 74254
ClinVar
Submissions by phenotype
not provided Benign:2
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not specified Benign:1
This variant is classified as Benign based on local population frequency. This variant was detected in 27% of patients studied by a panel of primary immunodeficiencies. Number of patients: 26. Only high quality variants are reported. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at