5-36049380-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_174914.4(UGT3A2):c.352G>A(p.Ala118Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000208 in 1,441,106 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_174914.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UGT3A2 | NM_174914.4 | c.352G>A | p.Ala118Thr | missense_variant | 4/7 | ENST00000282507.8 | |
UGT3A2 | NM_001168316.2 | c.250G>A | p.Ala84Thr | missense_variant | 3/6 | ||
UGT3A2 | XM_011513988.2 | c.433G>A | p.Ala145Thr | missense_variant | 5/8 | ||
UGT3A2 | NR_031764.2 | n.404+2490G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UGT3A2 | ENST00000282507.8 | c.352G>A | p.Ala118Thr | missense_variant | 4/7 | 1 | NM_174914.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000436 AC: 1AN: 229380Hom.: 0 AF XY: 0.00000804 AC XY: 1AN XY: 124376
GnomAD4 exome AF: 0.00000208 AC: 3AN: 1441106Hom.: 0 Cov.: 31 AF XY: 0.00000419 AC XY: 3AN XY: 715980
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 21, 2023 | The c.352G>A (p.A118T) alteration is located in exon 4 (coding exon 4) of the UGT3A2 gene. This alteration results from a G to A substitution at nucleotide position 352, causing the alanine (A) at amino acid position 118 to be replaced by a threonine (T). 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