NM_000629.3:c.77-22T>G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_000629.3(IFNAR1):c.77-22T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.388 in 1,444,442 control chromosomes in the GnomAD database, including 109,974 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). There are indicators that this mutation may affect the branch point..
Frequency
Consequence
NM_000629.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.381 AC: 57830AN: 151900Hom.: 11179 Cov.: 31
GnomAD3 exomes AF: 0.394 AC: 90086AN: 228704Hom.: 17700 AF XY: 0.396 AC XY: 49090AN XY: 123868
GnomAD4 exome AF: 0.389 AC: 502273AN: 1292424Hom.: 98791 Cov.: 18 AF XY: 0.390 AC XY: 253276AN XY: 649228
GnomAD4 genome AF: 0.381 AC: 57849AN: 152018Hom.: 11183 Cov.: 31 AF XY: 0.380 AC XY: 28231AN XY: 74292
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is classified as Benign based on local population frequency. This variant was detected in 60% of patients studied by a panel of primary immunodeficiencies. Number of patients: 57. Only high quality variants are reported. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at