NM_001077.4:c.1269T>A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001077.4(UGT2B17):c.1269T>A(p.Ser423Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict 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 Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UGT2B17 | ENST00000317746.3 | c.1269T>A | p.Ser423Arg | missense_variant | Exon 6 of 7 | 1 | NM_001077.4 | ENSP00000320401.2 | ||
UGT2B17 | ENST00000684088.1 | c.519T>A | p.Ser173Arg | missense_variant, splice_region_variant | Exon 5 of 5 | ENSP00000507374.1 |
Frequencies
GnomAD3 genomes AF: 0.0000319 AC: 4AN: 125488Hom.: 2 Cov.: 20
GnomAD3 exomes AF: 0.0000396 AC: 8AN: 202170Hom.: 4 AF XY: 0.0000552 AC XY: 6AN XY: 108600
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000796 AC: 10AN: 1255534Hom.: 4 Cov.: 31 AF XY: 0.00000483 AC XY: 3AN XY: 620566
GnomAD4 genome AF: 0.0000319 AC: 4AN: 125560Hom.: 2 Cov.: 20 AF XY: 0.0000667 AC XY: 4AN XY: 59952
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1269T>A (p.S423R) alteration is located in exon 5 (coding exon 5) of the UGT2B17 gene. This alteration results from a T to A substitution at nucleotide position 1269, causing the serine (S) at amino acid position 423 to be replaced by an arginine (R). 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