NM_015225.3:c.8468A>G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015225.3(PRUNE2):c.8468A>G(p.Asp2823Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000143 in 1,613,162 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: 0.0000657 AC: 10AN: 152170Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000403 AC: 1AN: 248430Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134974
GnomAD4 exome AF: 0.00000890 AC: 13AN: 1460874Hom.: 0 Cov.: 29 AF XY: 0.00000550 AC XY: 4AN XY: 726756
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152288Hom.: 0 Cov.: 32 AF XY: 0.0000537 AC XY: 4AN XY: 74470
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.8468A>G (p.D2823G) alteration is located in exon 11 (coding exon 11) of the PRUNE2 gene. This alteration results from a A to G substitution at nucleotide position 8468, causing the aspartic acid (D) at amino acid position 2823 to be replaced by a glycine (G). 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