chr2-233672397-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_021027.3(UGT1A9):āc.463T>Gā(p.Leu155Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,808 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_021027.3 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 |
---|---|---|---|---|---|---|---|---|
UGT1A9 | NM_021027.3 | c.463T>G | p.Leu155Val | missense_variant | 1/5 | ENST00000354728.5 | NP_066307.1 | |
UGT1A10 | NM_019075.4 | c.855+35020T>G | intron_variant | ENST00000344644.10 | NP_061948.1 | |||
UGT1A8 | NM_019076.5 | c.855+53835T>G | intron_variant | ENST00000373450.5 | NP_061949.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UGT1A9 | ENST00000354728.5 | c.463T>G | p.Leu155Val | missense_variant | 1/5 | 1 | NM_021027.3 | ENSP00000346768 | P1 | |
UGT1A10 | ENST00000344644.10 | c.855+35020T>G | intron_variant | 1 | NM_019075.4 | ENSP00000343838 | P1 | |||
UGT1A8 | ENST00000373450.5 | c.855+53835T>G | intron_variant | 1 | NM_019076.5 | ENSP00000362549 | P1 | |||
UGT1A10 | ENST00000373445.1 | c.855+35020T>G | intron_variant | 1 | ENSP00000362544 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461808Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 727210
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 18, 2022 | The c.463T>G (p.L155V) alteration is located in exon 1 (coding exon 1) of the UGT1A9 gene. This alteration results from a T to G substitution at nucleotide position 463, causing the leucine (L) at amino acid position 155 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.