chr7-128947289-T-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001098629.3(IRF5):c.541T>A(p.Trp181Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000133 in 150,468 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001098629.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000133 AC: 2AN: 150468Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000414 AC: 1AN: 241344Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 131540
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1457904Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 725046
GnomAD4 genome AF: 0.0000133 AC: 2AN: 150468Hom.: 0 Cov.: 32 AF XY: 0.0000136 AC XY: 1AN XY: 73404
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.541T>A (p.W181R) alteration is located in exon 6 (coding exon 5) of the IRF5 gene. This alteration results from a T to A substitution at nucleotide position 541, causing the tryptophan (W) at amino acid position 181 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at