rs1570748637
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001105562.3(UBE4B):c.24+9G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000142 in 1,412,300 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_001105562.3 intron
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UBE4B | NM_001105562.3 | c.24+9G>A | intron_variant | Intron 1 of 27 | ENST00000343090.11 | NP_001099032.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UBE4B | ENST00000343090.11 | c.24+9G>A | intron_variant | Intron 1 of 27 | 1 | NM_001105562.3 | ENSP00000343001.6 | |||
UBE4B | ENST00000253251.12 | c.24+9G>A | intron_variant | Intron 1 of 26 | 1 | ENSP00000253251.8 | ||||
UBE4B | ENST00000672724.1 | c.24+9G>A | intron_variant | Intron 1 of 28 | ENSP00000500453.1 | |||||
UBE4B | ENST00000377153.5 | c.24+9G>A | intron_variant | Intron 1 of 2 | 3 | ENSP00000366358.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000142 AC: 2AN: 1412300Hom.: 0 Cov.: 30 AF XY: 0.00000142 AC XY: 1AN XY: 702728
GnomAD4 genome Cov.: 33
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.