9-76638280-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015225.3(PRUNE2):c.8737G>A(p.Gly2913Arg) variant causes a missense change. The variant allele was found at a frequency of 0.0000118 in 1,612,566 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152206Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000323 AC: 8AN: 247902Hom.: 0 AF XY: 0.0000297 AC XY: 4AN XY: 134744
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1460360Hom.: 0 Cov.: 29 AF XY: 0.0000165 AC XY: 12AN XY: 726540
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152206Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74382
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.8737G>A (p.G2913R) 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 8737, causing the glycine (G) at amino acid position 2913 to be replaced by an arginine (R). 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