4-68551852-A-T
Variant names:
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_001077.4(UGT2B17):c.1065T>A(p.Tyr355*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Variant results in nonsense mediated mRNA decay.
Frequency
Genomes: 𝑓 0.0 ( 0 hom., cov: 20)
Exomes 𝑓: 0.0000016 ( 1 hom. )
Failed GnomAD Quality Control
Consequence
UGT2B17
NM_001077.4 stop_gained
NM_001077.4 stop_gained
Scores
2
1
4
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.910
Genes affected
UGT2B17 (HGNC:12547): (UDP glucuronosyltransferase family 2 member B17) This gene encodes a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate step in the metabolism of steroids. Copy number variation in this gene is associated with susceptibility to osteoporosis.[provided by RefSeq, Apr 2010]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UGT2B17 | ENST00000317746.3 | c.1065T>A | p.Tyr355* | stop_gained | Exon 5 of 7 | 1 | NM_001077.4 | ENSP00000320401.2 | ||
UGT2B17 | ENST00000684088.1 | c.315T>A | p.Tyr105* | stop_gained | Exon 4 of 5 | ENSP00000507374.1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 123562Hom.: 0 Cov.: 20 FAILED QC
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GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000162 AC: 2AN: 1237894Hom.: 1 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 611728
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GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 123562Hom.: 0 Cov.: 20 AF XY: 0.00 AC XY: 0AN XY: 58812
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ClinVar
Not reported inComputational scores
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Name
Calibrated prediction
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Prediction
BayesDel_addAF
Pathogenic
D
BayesDel_noAF
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Uncertain
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Benign
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FATHMM_MKL
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Vest4
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at