11-612843-T-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001572.5(IRF7):c.1357-43A>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.271 in 1,597,786 control chromosomes in the GnomAD database, including 64,101 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001572.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IRF7 | NM_001572.5 | c.1357-43A>C | intron_variant | Intron 10 of 10 | ENST00000525445.6 | NP_001563.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.325 AC: 49287AN: 151568Hom.: 9355 Cov.: 31
GnomAD3 exomes AF: 0.255 AC: 61646AN: 241498Hom.: 9387 AF XY: 0.244 AC XY: 32099AN XY: 131408
GnomAD4 exome AF: 0.266 AC: 384082AN: 1446098Hom.: 54730 Cov.: 37 AF XY: 0.261 AC XY: 187489AN XY: 718334
GnomAD4 genome AF: 0.325 AC: 49338AN: 151688Hom.: 9371 Cov.: 31 AF XY: 0.314 AC XY: 23300AN XY: 74116
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is classified as Benign based on local population frequency. This variant was detected in 59% of patients studied by a panel of primary immunodeficiencies. Number of patients: 56. Only high quality variants are reported. -
Immunodeficiency 39 Benign:1
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not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at