chrX-55488570-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.370C>T(p.Pro124Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000009 in 111,068 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict 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.370C>T | p.Pro124Ser | missense_variant | 3/3 | ENST00000500968.4 | |
USP51 | XM_017029300.2 | c.370C>T | p.Pro124Ser | missense_variant | 3/3 | ||
USP51 | XM_017029301.2 | c.370C>T | p.Pro124Ser | missense_variant | 2/2 | ||
USP51 | XM_047441870.1 | c.370C>T | p.Pro124Ser | missense_variant | 2/2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
USP51 | ENST00000500968.4 | c.370C>T | p.Pro124Ser | missense_variant | 3/3 | 1 | NM_201286.4 | P1 | |
USP51 | ENST00000586165.1 | c.124+124C>T | intron_variant | 1 |
Frequencies
GnomAD3 genomes AF: 0.00000901 AC: 1AN: 111025Hom.: 0 Cov.: 23 AF XY: 0.0000298 AC XY: 1AN XY: 33503
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000755 AC: 7AN: 927359Hom.: 0 Cov.: 27 AF XY: 0.0000105 AC XY: 3AN XY: 285237
GnomAD4 genome AF: 0.00000900 AC: 1AN: 111068Hom.: 0 Cov.: 23 AF XY: 0.0000298 AC XY: 1AN XY: 33558
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at