rs4422474
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_001741714.2(LOC105377265):n.3048-1186C>T 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 0.46 in 152,102 control chromosomes in the GnomAD database, including 17,533 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_001741714.2 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 |
---|---|---|---|---|---|---|---|
LOC105377265 | XR_001741714.2 | n.3048-1186C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105377265 | XR_938851.2 | n.316-1186C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105377265 | XR_938852.2 | n.316-1294C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105377265 | XR_938854.2 | n.298-1186C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UGT2B7 | ENST00000502942.5 | upstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.460 AC: 69909AN: 151904Hom.: 17505 Cov.: 32
GnomAD4 exome AF: 0.300 AC: 24AN: 80Hom.: 6 Cov.: 0 AF XY: 0.354 AC XY: 17AN XY: 48
GnomAD4 genome AF: 0.460 AC: 69975AN: 152022Hom.: 17527 Cov.: 32 AF XY: 0.460 AC XY: 34207AN XY: 74288
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at