7-128937860-CGCGGGGCGGG-CGCGGG
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_001347928.2(IRF5):c.-12+608_-12+612delGGGGC variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000047 ( 0 hom., cov: 0)
Exomes 𝑓: 0.0 ( 0 hom. )
Failed GnomAD Quality Control
Consequence
IRF5
NM_001347928.2 intron
NM_001347928.2 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.430
Genes affected
IRF5 (HGNC:6120): (interferon regulatory factor 5) This gene encodes a member of the interferon regulatory factor (IRF) family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune system activity. Members of the IRF family are characterized by a conserved N-terminal DNA-binding domain containing tryptophan (W) repeats. Alternative promoter use and alternative splicing result in multiple transcript variants, and a 30-nt indel polymorphism (SNP rs60344245) can result in loss of a 10-aa segment. [provided by RefSeq, Dec 2016]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
IRF5 | NM_001347928.2 | c.-12+608_-12+612delGGGGC | intron_variant | Intron 1 of 8 | NP_001334857.1 | |||
IRF5 | XM_011516160.2 | c.-12+39_-12+43delGGGGC | intron_variant | Intron 1 of 8 | XP_011514462.1 | |||
IRF5 | XM_047420338.1 | c.-12+39_-12+43delGGGGC | intron_variant | Intron 1 of 8 | XP_047276294.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
IRF5 | ENST00000489702.6 | c.-12+27_-12+31delGCGGG | intron_variant | Intron 1 of 8 | 5 | ENSP00000418037.2 | ||||
IRF5 | ENST00000652525.1 | c.-12+167_-12+171delGCGGG | intron_variant | Intron 1 of 1 | ENSP00000498293.1 | |||||
IRF5 | ENST00000700148.1 | n.52+27_52+31delGCGGG | intron_variant | Intron 1 of 7 |
Frequencies
GnomAD3 genomes AF: 0.0000467 AC: 7AN: 149950Hom.: 0 Cov.: 0
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GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 94Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 74
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GnomAD4 genome AF: 0.0000467 AC: 7AN: 149950Hom.: 0 Cov.: 0 AF XY: 0.0000410 AC XY: 3AN XY: 73086
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at