rs41298245
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000305107.7(UGT2B4):āc.1531T>Cā(p.Cys511Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000731 in 1,614,040 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
ENST00000305107.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UGT2B4 | NM_021139.3 | c.1531T>C | p.Cys511Arg | missense_variant | 6/6 | ENST00000305107.7 | NP_066962.2 | |
UGT2B4 | NM_001297616.2 | c.1123T>C | p.Cys375Arg | missense_variant | 7/7 | NP_001284545.1 | ||
UGT2B4 | NM_001297615.2 | c.*201T>C | 3_prime_UTR_variant | 5/5 | NP_001284544.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UGT2B4 | ENST00000305107.7 | c.1531T>C | p.Cys511Arg | missense_variant | 6/6 | 1 | NM_021139.3 | ENSP00000305221 | P1 | |
UGT2B4 | ENST00000512583.5 | c.*201T>C | 3_prime_UTR_variant | 5/5 | 1 | ENSP00000421290 | ||||
UGT2B4 | ENST00000506580.5 | n.1093T>C | non_coding_transcript_exon_variant | 5/5 | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152086Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000135 AC: 34AN: 251376Hom.: 0 AF XY: 0.000110 AC XY: 15AN XY: 135856
GnomAD4 exome AF: 0.0000773 AC: 113AN: 1461836Hom.: 0 Cov.: 30 AF XY: 0.0000756 AC XY: 55AN XY: 727218
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152204Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74402
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at