rs4377650
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_001741714.2(LOC105377265):n.3048-1219G>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 0.463 in 152,082 control chromosomes in the GnomAD database, including 17,806 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.3048-1219G>A | 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: 0.463 AC: 70337AN: 151910Hom.: 17775 Cov.: 32
GnomAD4 exome AF: 0.442 AC: 23AN: 52Hom.: 7 Cov.: 0 AF XY: 0.447 AC XY: 17AN XY: 38
GnomAD4 genome ? AF: 0.463 AC: 70405AN: 152030Hom.: 17799 Cov.: 32 AF XY: 0.463 AC XY: 34389AN XY: 74288
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at