rs149833170
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006052.2(VPS26C):c.808G>A(p.Val270Met) variant causes a missense change. The variant allele was found at a frequency of 0.000718 in 1,613,686 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
NM_006052.2 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: 0.000486 AC: 74AN: 152182Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.000568 AC: 142AN: 249898Hom.: 0 AF XY: 0.000563 AC XY: 76AN XY: 135070
GnomAD4 exome AF: 0.000742 AC: 1085AN: 1461504Hom.: 0 Cov.: 49 AF XY: 0.000746 AC XY: 542AN XY: 726996
GnomAD4 genome AF: 0.000486 AC: 74AN: 152182Hom.: 0 Cov.: 34 AF XY: 0.000417 AC XY: 31AN XY: 74348
ClinVar
Submissions by phenotype
not provided Uncertain:2
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not specified Uncertain:1
The c.808G>A (p.V270M) 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 808, causing the valine (V) at amino acid position 270 to be replaced by a methionine (M). 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