rs13250873
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_002956724.2(LOC112268030):n.760+7281G>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.516 in 151,948 control chromosomes in the GnomAD database, including 24,016 homozygotes. 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
XR_002956724.2 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC112268030 | XR_002956724.2 | n.760+7281G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UTP23 | ENST00000517820.1 | c.188+27139G>A | intron_variant | 3 | |||||
UTP23 | ENST00000520733.5 | c.45+23564G>A | intron_variant | 3 | |||||
UTP23 | ENST00000521703.5 | c.*92+7281G>A | intron_variant, NMD_transcript_variant | 2 | |||||
UTP23 | ENST00000524128.1 | c.*92+7281G>A | intron_variant, NMD_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.517 AC: 78429AN: 151830Hom.: 24016 Cov.: 31
GnomAD4 genome AF: 0.516 AC: 78434AN: 151948Hom.: 24016 Cov.: 31 AF XY: 0.514 AC XY: 38196AN XY: 74252
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at