3-179819924-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_016559.3(PEX5L):c.875G>A(p.Arg292Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000775 in 1,613,792 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_016559.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152050Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000875 AC: 22AN: 251408Hom.: 0 AF XY: 0.0000736 AC XY: 10AN XY: 135878
GnomAD4 exome AF: 0.0000780 AC: 114AN: 1461742Hom.: 0 Cov.: 30 AF XY: 0.0000770 AC XY: 56AN XY: 727184
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152050Hom.: 0 Cov.: 32 AF XY: 0.0000943 AC XY: 7AN XY: 74252
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.875G>A (p.R292Q) alteration is located in exon 9 (coding exon 9) of the PEX5L gene. This alteration results from a G to A substitution at nucleotide position 875, causing the arginine (R) at amino acid position 292 to be replaced by a glutamine (Q). 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