3-132331684-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001099.5(ACP3):āc.254T>Cā(p.Ile85Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000566 in 1,607,476 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001099.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152194Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000451 AC: 11AN: 243964Hom.: 0 AF XY: 0.0000379 AC XY: 5AN XY: 131892
GnomAD4 exome AF: 0.0000584 AC: 85AN: 1455282Hom.: 0 Cov.: 30 AF XY: 0.0000553 AC XY: 40AN XY: 723430
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152194Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.254T>C (p.I85T) alteration is located in exon 3 (coding exon 3) of the ACPP gene. This alteration results from a T to C substitution at nucleotide position 254, causing the isoleucine (I) at amino acid position 85 to be replaced by a threonine (T). 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