3-132342627-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001099.5(ACP3):c.631G>A(p.Asp211Asn) variant causes a missense change. The variant allele was found at a frequency of 0.0000591 in 1,607,036 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000528 AC: 8AN: 151544Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000448 AC: 11AN: 245526Hom.: 0 AF XY: 0.0000602 AC XY: 8AN XY: 132790
GnomAD4 exome AF: 0.0000598 AC: 87AN: 1455492Hom.: 0 Cov.: 29 AF XY: 0.0000566 AC XY: 41AN XY: 724138
GnomAD4 genome AF: 0.0000528 AC: 8AN: 151544Hom.: 0 Cov.: 32 AF XY: 0.0000270 AC XY: 2AN XY: 74006
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.631G>A (p.D211N) alteration is located in exon 6 (coding exon 6) of the ACPP gene. This alteration results from a G to A substitution at nucleotide position 631, causing the aspartic acid (D) at amino acid position 211 to be replaced by an asparagine (N). 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