7-128947371-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001098629.3(IRF5):c.623C>T(p.Pro208Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000584 in 1,610,170 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 Uncertain significance (★).
Frequency
Consequence
NM_001098629.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000276 AC: 42AN: 152142Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000589 AC: 14AN: 237574Hom.: 0 AF XY: 0.0000460 AC XY: 6AN XY: 130306
GnomAD4 exome AF: 0.0000357 AC: 52AN: 1458028Hom.: 0 Cov.: 34 AF XY: 0.0000262 AC XY: 19AN XY: 725208
GnomAD4 genome AF: 0.000276 AC: 42AN: 152142Hom.: 0 Cov.: 32 AF XY: 0.000202 AC XY: 15AN XY: 74320
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.623C>T (p.P208L) 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 623, causing the proline (P) at amino acid position 208 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