rs72551330
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_021027.3(UGT1A9):c.98T>A(p.Met33Lys) 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 1,461,832 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. M33T) has been classified as Benign.
Frequency
Consequence
NM_021027.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UGT1A9 | NM_021027.3 | c.98T>A | p.Met33Lys | missense_variant | 1/5 | ENST00000354728.5 | |
UGT1A10 | NM_019075.4 | c.855+34655T>A | intron_variant | ENST00000344644.10 | |||
UGT1A8 | NM_019076.5 | c.855+53470T>A | intron_variant | ENST00000373450.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UGT1A9 | ENST00000354728.5 | c.98T>A | p.Met33Lys | missense_variant | 1/5 | 1 | NM_021027.3 | P1 | |
UGT1A10 | ENST00000344644.10 | c.855+34655T>A | intron_variant | 1 | NM_019075.4 | P1 | |||
UGT1A8 | ENST00000373450.5 | c.855+53470T>A | intron_variant | 1 | NM_019076.5 | P1 | |||
UGT1A10 | ENST00000373445.1 | c.855+34655T>A | intron_variant | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251228Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135750
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461832Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 727202
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at