rs41298245
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_021139.3(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
NM_021139.3 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 | ENSP00000305221.6 | ||
UGT2B4 | ENST00000512583 | c.*201T>C | 3_prime_UTR_variant | 5/5 | 1 | ENSP00000421290.1 | ||||
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