7-128947323-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001098629.3(IRF5):c.575C>T(p.Pro192Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. 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 Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000501 AC: 2AN: 39902Hom.: 0 Cov.: 0
GnomAD3 exomes AF: 0.0000173 AC: 4AN: 231060Hom.: 0 AF XY: 0.0000158 AC XY: 2AN XY: 126698
GnomAD4 exome AF: 0.0000268 AC: 10AN: 373312Hom.: 0 Cov.: 0 AF XY: 0.0000216 AC XY: 4AN XY: 185496
GnomAD4 genome AF: 0.0000501 AC: 2AN: 39902Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 19940
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.575C>T (p.P192L) alteration is located in exon 6 (coding exon 5) of the IRF5 gene. This alteration results from a C to T substitution at nucleotide position 575, causing the proline (P) at amino acid position 192 to be replaced by a leucine (L). 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