2-233672458-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_021027.3(UGT1A9):āc.524A>Gā(p.His175Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000198 in 1,613,800 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/20 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 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UGT1A9 | NM_021027.3 | c.524A>G | p.His175Arg | missense_variant | 1/5 | ENST00000354728.5 | NP_066307.1 | |
UGT1A10 | NM_019075.4 | c.855+35081A>G | intron_variant | ENST00000344644.10 | NP_061948.1 | |||
UGT1A8 | NM_019076.5 | c.855+53896A>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.524A>G | p.His175Arg | missense_variant | 1/5 | 1 | NM_021027.3 | ENSP00000346768 | P1 | |
UGT1A10 | ENST00000344644.10 | c.855+35081A>G | intron_variant | 1 | NM_019075.4 | ENSP00000343838 | P1 | |||
UGT1A8 | ENST00000373450.5 | c.855+53896A>G | intron_variant | 1 | NM_019076.5 | ENSP00000362549 | P1 | |||
UGT1A10 | ENST00000373445.1 | c.855+35081A>G | intron_variant | 1 | ENSP00000362544 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152144Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251024Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135658
GnomAD4 exome AF: 0.0000212 AC: 31AN: 1461656Hom.: 0 Cov.: 33 AF XY: 0.0000275 AC XY: 20AN XY: 727134
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152144Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74318
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 31, 2023 | The c.524A>G (p.H175R) alteration is located in exon 1 (coding exon 1) of the UGT1A9 gene. This alteration results from a A to G substitution at nucleotide position 524, causing the histidine (H) at amino acid position 175 to be replaced by an arginine (R). 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