9-76638222-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015225.3(PRUNE2):c.8795G>A(p.Arg2932Gln) variant causes a missense change. The variant allele was found at a frequency of 0.000075 in 1,613,526 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_015225.3 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: 0.0000723 AC: 11AN: 152206Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000109 AC: 27AN: 248292Hom.: 0 AF XY: 0.000111 AC XY: 15AN XY: 134918
GnomAD4 exome AF: 0.0000753 AC: 110AN: 1461320Hom.: 0 Cov.: 30 AF XY: 0.0000784 AC XY: 57AN XY: 726954
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152206Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.8795G>A (p.R2932Q) alteration is located in exon 13 (coding exon 13) of the PRUNE2 gene. This alteration results from a G to A substitution at nucleotide position 8795, causing the arginine (R) at amino acid position 2932 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