X-55488636-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_201286.4(USP51):c.304C>T(p.Arg102Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000283 in 1,059,792 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_201286.4 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 | UniProt |
---|---|---|---|---|---|---|---|
USP51 | NM_201286.4 | c.304C>T | p.Arg102Cys | missense_variant | 3/3 | ENST00000500968.4 | |
USP51 | XM_017029300.2 | c.304C>T | p.Arg102Cys | missense_variant | 3/3 | ||
USP51 | XM_017029301.2 | c.304C>T | p.Arg102Cys | missense_variant | 2/2 | ||
USP51 | XM_047441870.1 | c.304C>T | p.Arg102Cys | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
USP51 | ENST00000500968.4 | c.304C>T | p.Arg102Cys | missense_variant | 3/3 | 1 | NM_201286.4 | P1 | |
USP51 | ENST00000586165.1 | c.124+58C>T | intron_variant | 1 |
Frequencies
GnomAD3 genomes Cov.: 24
GnomAD4 exome AF: 0.00000283 AC: 3AN: 1059792Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 341666
GnomAD4 genome Cov.: 24
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 11, 2023 | The c.304C>T (p.R102C) alteration is located in exon 2 (coding exon 1) of the USP51 gene. This alteration results from a C to T substitution at nucleotide position 304, causing the arginine (R) at amino acid position 102 to be replaced by a cysteine (C). 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