21-37227806-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006052.2(VPS26C):c.659G>A(p.Gly220Glu) variant causes a missense, splice region change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000781 in 1,613,490 control chromosomes in the GnomAD database, with no homozygous occurrence. 2/3 splice prediction tools predicting alterations to normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006052.2 missense, splice_region
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: 0.0000921 AC: 14AN: 152034Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000161 AC: 40AN: 248662Hom.: 0 AF XY: 0.000156 AC XY: 21AN XY: 134674
GnomAD4 exome AF: 0.0000766 AC: 112AN: 1461456Hom.: 0 Cov.: 48 AF XY: 0.0000757 AC XY: 55AN XY: 727018
GnomAD4 genome AF: 0.0000921 AC: 14AN: 152034Hom.: 0 Cov.: 33 AF XY: 0.000108 AC XY: 8AN XY: 74232
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.659G>A (p.G220E) alteration is located in exon 7 (coding exon 7) of the DSCR3 gene. This alteration results from a G to A substitution at nucleotide position 659, causing the glycine (G) at amino acid position 220 to be replaced by a glutamic acid (E). 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