chr4-68560592-A-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_001077.4(UGT2B17):c.950T>A(p.Met317Lys) variant causes a missense change. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001077.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UGT2B17 | ENST00000317746.3 | c.950T>A | p.Met317Lys | missense_variant | Exon 4 of 7 | 1 | NM_001077.4 | ENSP00000320401.2 | ||
UGT2B17 | ENST00000684088.1 | c.200T>A | p.Met67Lys | missense_variant | Exon 3 of 5 | ENSP00000507374.1 |
Frequencies
GnomAD3 genomes AF: 0.0000939 AC: 11AN: 117202Hom.: 0 Cov.: 17
GnomAD3 exomes AF: 0.0000279 AC: 5AN: 179168Hom.: 0 AF XY: 0.0000206 AC XY: 2AN XY: 97122
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000577 AC: 7AN: 1213030Hom.: 1 Cov.: 21 AF XY: 0.00 AC XY: 0AN XY: 605508
GnomAD4 genome AF: 0.0000939 AC: 11AN: 117202Hom.: 0 Cov.: 17 AF XY: 0.000107 AC XY: 6AN XY: 55950
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.950T>A (p.M317K) alteration is located in exon 3 (coding exon 3) of the UGT2B17 gene. This alteration results from a T to A substitution at nucleotide position 950, causing the methionine (M) at amino acid position 317 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at