3-132337486-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001099.5(ACP3):c.487C>T(p.Arg163Cys) variant causes a missense change. The variant allele was found at a frequency of 0.000108 in 1,610,938 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001099.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152176Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000139 AC: 35AN: 251200Hom.: 0 AF XY: 0.000199 AC XY: 27AN XY: 135754
GnomAD4 exome AF: 0.000109 AC: 159AN: 1458644Hom.: 1 Cov.: 29 AF XY: 0.000153 AC XY: 111AN XY: 725328
GnomAD4 genome AF: 0.0000985 AC: 15AN: 152294Hom.: 0 Cov.: 33 AF XY: 0.000161 AC XY: 12AN XY: 74486
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.487C>T (p.R163C) alteration is located in exon 5 (coding exon 5) of the ACPP gene. This alteration results from a C to T substitution at nucleotide position 487, causing the arginine (R) at amino acid position 163 to be replaced by a cysteine (C). 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