rs746227737
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_018367.7(ACER3):c.10G>A(p.Ala4Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000281 in 1,538,548 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_018367.7 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: 0.000335 AC: 51AN: 152078Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000190 AC: 27AN: 141784Hom.: 0 AF XY: 0.000198 AC XY: 15AN XY: 75630
GnomAD4 exome AF: 0.000276 AC: 382AN: 1386470Hom.: 1 Cov.: 31 AF XY: 0.000260 AC XY: 178AN XY: 683932
GnomAD4 genome AF: 0.000335 AC: 51AN: 152078Hom.: 0 Cov.: 31 AF XY: 0.000363 AC XY: 27AN XY: 74308
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.10G>A (p.A4T) alteration is located in exon 1 (coding exon 1) of the ACER3 gene. This alteration results from a G to A substitution at nucleotide position 10, causing the alanine (A) at amino acid position 4 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
not provided Uncertain:1
This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 4 of the ACER3 protein (p.Ala4Thr). This variant is present in population databases (rs746227737, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with ACER3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1478169). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at