chr4-114668144-A-G
Variant summary
Our verdict is Uncertain significance. The variant received 1 ACMG points: 2P and 1B. PM2BP4
The NM_001128174.3(UGT8):c.1102A>G(p.Ile368Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000434 in 1,613,690 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/22 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001128174.3 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UGT8 | ENST00000310836.11 | c.1102A>G | p.Ile368Val | missense_variant | Exon 5 of 6 | 1 | NM_001128174.3 | ENSP00000311648.6 | ||
UGT8 | ENST00000394511.3 | c.1102A>G | p.Ile368Val | missense_variant | Exon 4 of 5 | 1 | ENSP00000378019.3 | |||
UGT8 | ENST00000507710.2 | c.1102A>G | p.Ile368Val | missense_variant | Exon 6 of 7 | 3 | ENSP00000421446.2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152122Hom.: 0 Cov.: 32 show subpopulations
GnomAD2 exomes AF: 0.0000119 AC: 3AN: 251366 AF XY: 0.00 show subpopulations
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1461568Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727112 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152122Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74304 show subpopulations
Age Distribution
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1102A>G (p.M368V) alteration is located in exon 5 (coding exon 4) of the UGT8 gene. This alteration results from a A to G substitution at nucleotide position 1102, causing the methionine (M) at amino acid position 368 to be replaced by a valine (V). 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