chr9-76703758-C-T
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015225.3(PRUNE2):c.7855G>A(p.Asp2619Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000143 in 1,613,586 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/22 in silico tools predict 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
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152018Hom.: 0 Cov.: 31 show subpopulations
GnomAD2 exomes AF: 0.0000403 AC: 10AN: 248432 AF XY: 0.0000518 show subpopulations
GnomAD4 exome AF: 0.0000144 AC: 21AN: 1461568Hom.: 0 Cov.: 64 AF XY: 0.0000151 AC XY: 11AN XY: 727072 show subpopulations
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152018Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74230 show subpopulations
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.7855G>A (p.D2619N) alteration is located in exon 9 (coding exon 9) of the PRUNE2 gene. This alteration results from a G to A substitution at nucleotide position 7855, causing the aspartic acid (D) at amino acid position 2619 to be replaced by an asparagine (N). 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