chr1-21695104-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The NM_032236.8(USP48):c.2845G>A(p.Val949Ile) variant causes a missense change. The variant allele was found at a frequency of 0.00000868 in 1,613,096 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_032236.8 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152174Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250312Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135260
GnomAD4 exome AF: 0.00000890 AC: 13AN: 1460922Hom.: 0 Cov.: 30 AF XY: 0.00000826 AC XY: 6AN XY: 726718
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152174Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2845G>A (p.V949I) alteration is located in exon 23 (coding exon 23) of the USP48 gene. This alteration results from a G to A substitution at nucleotide position 2845, causing the valine (V) at amino acid position 949 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