rs445683
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_022066.4(UBE2O):c.477+73G>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000262 in 1,524,838 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_022066.4 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UBE2O | NM_022066.4 | c.477+73G>C | intron_variant | ENST00000319380.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UBE2O | ENST00000319380.12 | c.477+73G>C | intron_variant | 1 | NM_022066.4 | P1 | |||
UBE2O | ENST00000586409.5 | n.477+73G>C | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000659 AC: 1AN: 151646Hom.: 0 Cov.: 30
GnomAD4 exome AF: 0.00000218 AC: 3AN: 1373074Hom.: 0 Cov.: 22 AF XY: 0.00000147 AC XY: 1AN XY: 682006
GnomAD4 genome ? AF: 0.00000659 AC: 1AN: 151764Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 74196
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.