4-68537870-G-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_001077.4(UGT2B17):c.1348C>T(p.His450Tyr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00249 in 1,371,496 control chromosomes in the GnomAD database, including 718 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001077.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0138 AC: 1741AN: 126092Hom.: 343 Cov.: 20
GnomAD3 exomes AF: 0.00389 AC: 773AN: 198940Hom.: 166 AF XY: 0.00278 AC XY: 297AN XY: 106840
GnomAD4 exome AF: 0.00134 AC: 1667AN: 1245336Hom.: 373 Cov.: 29 AF XY: 0.00113 AC XY: 693AN XY: 615108
GnomAD4 genome AF: 0.0138 AC: 1746AN: 126160Hom.: 345 Cov.: 20 AF XY: 0.0136 AC XY: 820AN XY: 60198
ClinVar
Submissions by phenotype
not provided Benign:2
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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