chr2-233693233-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001072.4(UGT1A6):c.229A>G(p.Ile77Val) 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. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001072.4 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 | UniProt |
---|---|---|---|---|---|---|---|
UGT1A6 | NM_001072.4 | c.229A>G | p.Ile77Val | missense_variant | 1/5 | ENST00000305139.11 | |
UGT1A10 | NM_019075.4 | c.855+55856A>G | intron_variant | ENST00000344644.10 | |||
UGT1A8 | NM_019076.5 | c.856-73801A>G | intron_variant | ENST00000373450.5 | |||
UGT1A7 | NM_019077.3 | c.855+10441A>G | intron_variant | ENST00000373426.4 | |||
UGT1A9 | NM_021027.3 | c.855+20444A>G | intron_variant | ENST00000354728.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UGT1A6 | ENST00000305139.11 | c.229A>G | p.Ile77Val | missense_variant | 1/5 | 1 | NM_001072.4 | P1 | |
UGT1A10 | ENST00000344644.10 | c.855+55856A>G | intron_variant | 1 | NM_019075.4 | P1 | |||
UGT1A9 | ENST00000354728.5 | c.855+20444A>G | intron_variant | 1 | NM_021027.3 | P1 | |||
UGT1A7 | ENST00000373426.4 | c.855+10441A>G | intron_variant | 1 | NM_019077.3 | P1 | |||
UGT1A8 | ENST00000373450.5 | c.856-73801A>G | intron_variant | 1 | NM_019076.5 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 80
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 07, 2023 | The c.229A>G (p.I77V) alteration is located in exon 1 (coding exon 1) of the UGT1A6 gene. This alteration results from a A to G substitution at nucleotide position 229, causing the isoleucine (I) at amino acid position 77 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.