5-35954390-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000274278.8(UGT3A1):c.1384A>G(p.Ile462Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000274278.8 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 |
---|---|---|---|---|---|---|---|---|
UGT3A1 | NM_152404.4 | c.1384A>G | p.Ile462Val | missense_variant | 7/7 | ENST00000274278.8 | NP_689617.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UGT3A1 | ENST00000274278.8 | c.1384A>G | p.Ile462Val | missense_variant | 7/7 | 1 | NM_152404.4 | ENSP00000274278 | P1 | |
UGT3A1 | ENST00000515801.5 | c.*3181A>G | 3_prime_UTR_variant, NMD_transcript_variant | 8/8 | 2 | ENSP00000427630 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 29, 2022 | The c.1384A>G (p.I462V) alteration is located in exon 7 (coding exon 7) of the UGT3A1 gene. This alteration results from a A to G substitution at nucleotide position 1384, causing the isoleucine (I) at amino acid position 462 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
Publications
No publications associated with this variant yet.