chr2-233682328-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM4
The NM_019077.3(UGT1A7):c.391C>T(p.Arg131Ter) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. R131R) has been classified as Benign. Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_019077.3 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UGT1A7 | NM_019077.3 | c.391C>T | p.Arg131Ter | stop_gained | 1/5 | ENST00000373426.4 | |
UGT1A10 | NM_019075.4 | c.855+44951C>T | intron_variant | ENST00000344644.10 | |||
UGT1A8 | NM_019076.5 | c.855+63766C>T | intron_variant | ENST00000373450.5 | |||
UGT1A9 | NM_021027.3 | c.855+9539C>T | intron_variant | ENST00000354728.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UGT1A7 | ENST00000373426.4 | c.391C>T | p.Arg131Ter | stop_gained | 1/5 | 1 | NM_019077.3 | P1 | |
UGT1A10 | ENST00000344644.10 | c.855+44951C>T | intron_variant | 1 | NM_019075.4 | P1 | |||
UGT1A9 | ENST00000354728.5 | c.855+9539C>T | intron_variant | 1 | NM_021027.3 | P1 | |||
UGT1A8 | ENST00000373450.5 | c.855+63766C>T | intron_variant | 1 | NM_019076.5 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD3 exomes AF: 0.0000124 AC: 3AN: 242314Hom.: 0 AF XY: 0.0000229 AC XY: 3AN XY: 131250
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000151 AC: 22AN: 1461656Hom.: 0 Cov.: 99 AF XY: 0.0000206 AC XY: 15AN XY: 727114
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at