NM_006052.2:c.569C>T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_006052.2(VPS26C):c.569C>T(p.Thr190Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000378 in 1,614,220 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 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 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152240Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000756 AC: 19AN: 251446Hom.: 0 AF XY: 0.000110 AC XY: 15AN XY: 135904
GnomAD4 exome AF: 0.0000356 AC: 52AN: 1461862Hom.: 1 Cov.: 31 AF XY: 0.0000578 AC XY: 42AN XY: 727230
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152358Hom.: 0 Cov.: 33 AF XY: 0.0000805 AC XY: 6AN XY: 74500
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.569C>T (p.T190M) alteration is located in exon 6 (coding exon 6) of the DSCR3 gene. This alteration results from a C to T substitution at nucleotide position 569, causing the threonine (T) at amino acid position 190 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