2-233682329-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_019077.3(UGT1A7):c.392G>C(p.Arg131Pro) 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. 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. R131Q) has been classified as Benign.
Frequency
Consequence
NM_019077.3 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 | UniProt |
---|---|---|---|---|---|---|---|
UGT1A7 | NM_019077.3 | c.392G>C | p.Arg131Pro | missense_variant | 1/5 | ENST00000373426.4 | |
UGT1A10 | NM_019075.4 | c.855+44952G>C | intron_variant | ENST00000344644.10 | |||
UGT1A8 | NM_019076.5 | c.855+63767G>C | intron_variant | ENST00000373450.5 | |||
UGT1A9 | NM_021027.3 | c.855+9540G>C | intron_variant | ENST00000354728.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UGT1A7 | ENST00000373426.4 | c.392G>C | p.Arg131Pro | missense_variant | 1/5 | 1 | NM_019077.3 | P1 | |
UGT1A10 | ENST00000344644.10 | c.855+44952G>C | intron_variant | 1 | NM_019075.4 | P1 | |||
UGT1A9 | ENST00000354728.5 | c.855+9540G>C | intron_variant | 1 | NM_021027.3 | P1 | |||
UGT1A8 | ENST00000373450.5 | c.855+63767G>C | intron_variant | 1 | NM_019076.5 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD3 exomes AF: 0.00000412 AC: 1AN: 242476Hom.: 0 AF XY: 0.00000762 AC XY: 1AN XY: 131292
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 6.84e-7 AC: 1AN: 1461646Hom.: 0 Cov.: 99 AF XY: 0.00000138 AC XY: 1AN XY: 727102
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at