chr20-63488364-C-T
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 0P and 19B. BP4_ModerateBP6_Very_StrongBP7BA1
The NM_001958.5(EEF1A2):c.1326G>A(p.Glu442Glu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.015 in 1,477,194 control chromosomes in the GnomAD database, including 1,651 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001958.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0446 AC: 6771AN: 151692Hom.: 471 Cov.: 33
GnomAD3 exomes AF: 0.0288 AC: 2761AN: 95750Hom.: 210 AF XY: 0.0367 AC XY: 1957AN XY: 53380
GnomAD4 exome AF: 0.0116 AC: 15402AN: 1325394Hom.: 1177 Cov.: 33 AF XY: 0.0149 AC XY: 9758AN XY: 653674
GnomAD4 genome AF: 0.0448 AC: 6805AN: 151800Hom.: 474 Cov.: 33 AF XY: 0.0462 AC XY: 3431AN XY: 74190
ClinVar
Submissions by phenotype
not specified Benign:2
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
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Developmental and epileptic encephalopathy, 33 Benign:1
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Inborn genetic diseases Benign:1
This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at