1-55081417-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.6983G>A(p.Arg2328Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000731 in 1,613,378 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.6983G>A | p.Arg2328Gln | missense_variant | Exon 59 of 68 | 5 | NM_015306.3 | ENSP00000294383.5 | ||
USP24 | ENST00000484447.6 | c.6983G>A | p.Arg2328Gln | missense_variant | Exon 59 of 68 | 3 | ENSP00000489026.2 | |||
USP24 | ENST00000472566.1 | n.701G>A | non_coding_transcript_exon_variant | Exon 4 of 4 | 3 |
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152132Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000129 AC: 32AN: 248968Hom.: 0 AF XY: 0.000141 AC XY: 19AN XY: 135072
GnomAD4 exome AF: 0.0000698 AC: 102AN: 1461246Hom.: 0 Cov.: 30 AF XY: 0.0000757 AC XY: 55AN XY: 726906
GnomAD4 genome AF: 0.000105 AC: 16AN: 152132Hom.: 0 Cov.: 33 AF XY: 0.0000807 AC XY: 6AN XY: 74312
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.6983G>A (p.R2328Q) alteration is located in exon 59 (coding exon 59) of the USP24 gene. This alteration results from a G to A substitution at nucleotide position 6983, causing the arginine (R) at amino acid position 2328 to be replaced by a glutamine (Q). 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