2-233637315-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_019075.4(UGT1A10):c.793G>A(p.Val265Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000228 in 1,613,778 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_019075.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UGT1A10 | NM_019075.4 | c.793G>A | p.Val265Met | missense_variant | 1/5 | ENST00000344644.10 | NP_061948.1 | |
UGT1A8 | NM_019076.5 | c.855+18753G>A | intron_variant | ENST00000373450.5 | NP_061949.3 | |||
UGT1A | use as main transcript | n.233637315G>A | intragenic_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UGT1A10 | ENST00000344644.10 | c.793G>A | p.Val265Met | missense_variant | 1/5 | 1 | NM_019075.4 | ENSP00000343838.5 | ||
UGT1A10 | ENST00000373445.1 | c.793G>A | p.Val265Met | missense_variant | 1/5 | 1 | ENSP00000362544.1 | |||
UGT1A8 | ENST00000373450.5 | c.855+18753G>A | intron_variant | 1 | NM_019076.5 | ENSP00000362549.4 |
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152122Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000139 AC: 35AN: 251002Hom.: 0 AF XY: 0.000118 AC XY: 16AN XY: 135644
GnomAD4 exome AF: 0.000242 AC: 354AN: 1461656Hom.: 0 Cov.: 33 AF XY: 0.000224 AC XY: 163AN XY: 727136
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152122Hom.: 0 Cov.: 32 AF XY: 0.0000942 AC XY: 7AN XY: 74308
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 17, 2023 | The c.793G>A (p.V265M) alteration is located in exon 1 (coding exon 1) of the UGT1A10 gene. This alteration results from a G to A substitution at nucleotide position 793, causing the valine (V) at amino acid position 265 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