5-36035759-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_174914.4(UGT3A2):c.1511G>A(p.Gly504Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000273 in 1,614,128 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 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 Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UGT3A2 | NM_174914.4 | c.1511G>A | p.Gly504Glu | missense_variant | 7/7 | ENST00000282507.8 | NP_777574.2 | |
UGT3A2 | NM_001168316.2 | c.1409G>A | p.Gly470Glu | missense_variant | 6/6 | NP_001161788.1 | ||
UGT3A2 | XM_011513988.2 | c.1592G>A | p.Gly531Glu | missense_variant | 8/8 | XP_011512290.1 | ||
UGT3A2 | NR_031764.2 | n.1072G>A | non_coding_transcript_exon_variant | 6/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UGT3A2 | ENST00000282507.8 | c.1511G>A | p.Gly504Glu | missense_variant | 7/7 | 1 | NM_174914.4 | ENSP00000282507 | P1 | |
UGT3A2 | ENST00000513300.5 | c.1409G>A | p.Gly470Glu | missense_variant | 6/6 | 2 | ENSP00000427404 | |||
UGT3A2 | ENST00000504685.5 | c.*616G>A | 3_prime_UTR_variant, NMD_transcript_variant | 6/6 | 2 | ENSP00000426017 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152128Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000438 AC: 11AN: 251352Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135858
GnomAD4 exome AF: 0.0000260 AC: 38AN: 1461882Hom.: 0 Cov.: 31 AF XY: 0.0000316 AC XY: 23AN XY: 727238
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152246Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74432
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 06, 2021 | The c.1511G>A (p.G504E) alteration is located in exon 7 (coding exon 7) of the UGT3A2 gene. This alteration results from a G to A substitution at nucleotide position 1511, causing the glycine (G) at amino acid position 504 to be replaced by a glutamic acid (E). 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