7-128942286-G-A
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP6
The NM_001098629.3(IRF5):c.195+10G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000236 in 1,603,102 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_001098629.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00119 AC: 181AN: 152176Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000371 AC: 90AN: 242316Hom.: 0 AF XY: 0.000313 AC XY: 41AN XY: 131134
GnomAD4 exome AF: 0.000136 AC: 198AN: 1450808Hom.: 0 Cov.: 31 AF XY: 0.000126 AC XY: 91AN XY: 720478
GnomAD4 genome AF: 0.00119 AC: 181AN: 152294Hom.: 0 Cov.: 33 AF XY: 0.00128 AC XY: 95AN XY: 74476
ClinVar
Submissions by phenotype
IRF5-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at