chr19-3982400-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001961.4(EEF2):c.637G>A(p.Gly213Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G213C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001961.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EEF2 | ENST00000309311.7 | c.637G>A | p.Gly213Ser | missense_variant | Exon 5 of 15 | 5 | NM_001961.4 | ENSP00000307940.5 | ||
EEF2 | ENST00000598436.1 | n.135G>A | non_coding_transcript_exon_variant | Exon 1 of 4 | 2 | |||||
EEF2 | ENST00000598182.5 | n.-87G>A | upstream_gene_variant | 2 | ||||||
SNORD37 | ENST00000384048.1 | n.*107G>A | downstream_gene_variant | 6 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251208Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135828
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at