4-155926056-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001334.3(CTSO):c.946G>A(p.Val316Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000528 in 1,590,482 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_001334.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000629 AC: 9AN: 143136Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000130 AC: 28AN: 215588Hom.: 0 AF XY: 0.000102 AC XY: 12AN XY: 117226
GnomAD4 exome AF: 0.0000518 AC: 75AN: 1447346Hom.: 0 Cov.: 27 AF XY: 0.0000389 AC XY: 28AN XY: 720212
GnomAD4 genome AF: 0.0000629 AC: 9AN: 143136Hom.: 0 Cov.: 33 AF XY: 0.0000580 AC XY: 4AN XY: 68996
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.946G>A (p.V316I) alteration is located in exon 8 (coding exon 8) of the CTSO gene. This alteration results from a G to A substitution at nucleotide position 946, causing the valine (V) at amino acid position 316 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