13-75560783-T-C
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_006002.5(UCHL3):c.85T>C(p.Trp29Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00002 in 1,450,038 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006002.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
UCHL3 | NM_006002.5 | c.85T>C | p.Trp29Arg | missense_variant | Exon 3 of 9 | ENST00000377595.8 | NP_005993.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UCHL3 | ENST00000377595.8 | c.85T>C | p.Trp29Arg | missense_variant | Exon 3 of 9 | 1 | NM_006002.5 | ENSP00000366819.3 | ||
UCHL3 | ENST00000471792.6 | n.231T>C | non_coding_transcript_exon_variant | Exon 3 of 7 | 3 | |||||
ENSG00000261553 | ENST00000563635.5 | n.133T>C | non_coding_transcript_exon_variant | Exon 3 of 15 | 5 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000418 AC: 1AN: 239496Hom.: 0 AF XY: 0.00000772 AC XY: 1AN XY: 129550
GnomAD4 exome AF: 0.0000200 AC: 29AN: 1450038Hom.: 0 Cov.: 32 AF XY: 0.0000263 AC XY: 19AN XY: 721284
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.85T>C (p.W29R) alteration is located in exon 3 (coding exon 3) of the UCHL3 gene. This alteration results from a T to C substitution at nucleotide position 85, causing the tryptophan (W) at amino acid position 29 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