8-144424956-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016208.4(VPS28):c.290G>A(p.Arg97His) variant causes a missense change. The variant allele was found at a frequency of 0.0000324 in 1,572,854 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_016208.4 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: 0.000138 AC: 21AN: 152182Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000275 AC: 5AN: 181816Hom.: 0 AF XY: 0.0000103 AC XY: 1AN XY: 97220
GnomAD4 exome AF: 0.0000211 AC: 30AN: 1420672Hom.: 0 Cov.: 33 AF XY: 0.0000228 AC XY: 16AN XY: 703200
GnomAD4 genome AF: 0.000138 AC: 21AN: 152182Hom.: 0 Cov.: 33 AF XY: 0.000202 AC XY: 15AN XY: 74342
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.290G>A (p.R97H) alteration is located in exon 6 (coding exon 5) of the VPS28 gene. This alteration results from a G to A substitution at nucleotide position 290, causing the arginine (R) at amino acid position 97 to be replaced by a histidine (H). 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