chr17-31868098-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_018428.3(UTP6):c.1511G>A(p.Arg504Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000093 in 1,612,906 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018428.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UTP6 | NM_018428.3 | c.1511G>A | p.Arg504Gln | missense_variant | Exon 17 of 19 | ENST00000261708.9 | NP_060898.2 | |
UTP6 | XM_011524997.4 | c.1511G>A | p.Arg504Gln | missense_variant | Exon 17 of 18 | XP_011523299.1 | ||
UTP6 | XM_047436390.1 | c.1148G>A | p.Arg383Gln | missense_variant | Exon 15 of 17 | XP_047292346.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152122Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000796 AC: 2AN: 251184Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135806
GnomAD4 exome AF: 0.00000685 AC: 10AN: 1460784Hom.: 0 Cov.: 30 AF XY: 0.00000550 AC XY: 4AN XY: 726688
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152122Hom.: 0 Cov.: 31 AF XY: 0.0000404 AC XY: 3AN XY: 74310
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1511G>A (p.R504Q) alteration is located in exon 17 (coding exon 17) of the UTP6 gene. This alteration results from a G to A substitution at nucleotide position 1511, causing the arginine (R) at amino acid position 504 to be replaced by a glutamine (Q). 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