1-55073899-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015306.3(USP24):c.7455G>A(p.Met2485Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000553 in 1,573,308 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015306.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
USP24 | ENST00000294383.7 | c.7455G>A | p.Met2485Ile | missense_variant | Exon 64 of 68 | 5 | NM_015306.3 | ENSP00000294383.5 | ||
USP24 | ENST00000484447.6 | c.7455G>A | p.Met2485Ile | missense_variant | Exon 64 of 68 | 3 | ENSP00000489026.2 |
Frequencies
GnomAD3 genomes AF: 0.0000789 AC: 12AN: 152076Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000585 AC: 11AN: 187972Hom.: 0 AF XY: 0.0000704 AC XY: 7AN XY: 99490
GnomAD4 exome AF: 0.0000528 AC: 75AN: 1421114Hom.: 0 Cov.: 30 AF XY: 0.0000541 AC XY: 38AN XY: 702578
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152194Hom.: 0 Cov.: 31 AF XY: 0.0000403 AC XY: 3AN XY: 74396
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.7455G>A (p.M2485I) alteration is located in exon 64 (coding exon 64) of the USP24 gene. This alteration results from a G to A substitution at nucleotide position 7455, causing the methionine (M) at amino acid position 2485 to be replaced by an isoleucine (I). 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