4-68551852-A-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BA1
The NM_001077.4(UGT2B17):āc.1065T>Cā(p.Tyr355Tyr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.624 in 1,360,418 control chromosomes in the GnomAD database, including 347,751 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_001077.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UGT2B17 | ENST00000317746.3 | c.1065T>C | p.Tyr355Tyr | synonymous_variant | Exon 5 of 7 | 1 | NM_001077.4 | ENSP00000320401.2 | ||
UGT2B17 | ENST00000684088.1 | c.315T>C | p.Tyr105Tyr | synonymous_variant | Exon 4 of 5 | ENSP00000507374.1 |
Frequencies
GnomAD3 genomes AF: 0.557 AC: 68751AN: 123516Hom.: 26764 Cov.: 20
GnomAD3 exomes AF: 0.593 AC: 118401AN: 199732Hom.: 48827 AF XY: 0.605 AC XY: 64898AN XY: 107318
GnomAD4 exome AF: 0.631 AC: 780508AN: 1236842Hom.: 320981 Cov.: 30 AF XY: 0.632 AC XY: 386009AN XY: 611244
GnomAD4 genome AF: 0.557 AC: 68775AN: 123576Hom.: 26770 Cov.: 20 AF XY: 0.552 AC XY: 32506AN XY: 58862
ClinVar
Submissions by phenotype
UGT2B17-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at