2-88583496-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_004836.7(EIF2AK3):āc.1697A>Gā(p.Asp566Gly) variant causes a missense change. The variant allele was found at a frequency of 0.0000089 in 1,460,994 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 (ā ā ).
Frequency
Consequence
NM_004836.7 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 Cov.: 32
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 250846Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135574
GnomAD4 exome AF: 0.00000890 AC: 13AN: 1460994Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 726840
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.1697A>G (p.D566G) alteration is located in exon 10 (coding exon 10) of the EIF2AK3 gene. This alteration results from a A to G substitution at nucleotide position 1697, causing the aspartic acid (D) at amino acid position 566 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
not provided Uncertain:1
This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 566 of the EIF2AK3 protein (p.Asp566Gly). This variant is present in population databases (rs55791823, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with EIF2AK3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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