rs113994074
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM2PM5PP3_Strong
The NM_003907.3(EIF2B5):c.1157G>C(p.Gly386Ala) variant causes a missense, splice region 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. 2/2 splice prediction tools predicting alterations to normal splicing. 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. G386V) has been classified as Pathogenic.
Frequency
Consequence
NM_003907.3 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
EIF2B5 | NM_003907.3 | c.1157G>C | p.Gly386Ala | missense_variant, splice_region_variant | 8/16 | ENST00000648915.2 | NP_003898.2 | |
EIF2B5 | XM_047449148.1 | c.1157G>C | p.Gly386Ala | missense_variant, splice_region_variant | 8/11 | XP_047305104.1 | ||
EIF2B5 | XM_011513265.1 | c.407G>C | p.Gly136Ala | missense_variant, splice_region_variant | 4/12 | XP_011511567.1 | ||
EIF2B5 | XM_011513266.4 | c.320G>C | p.Gly107Ala | missense_variant, splice_region_variant | 3/11 | XP_011511568.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EIF2B5 | ENST00000648915.2 | c.1157G>C | p.Gly386Ala | missense_variant, splice_region_variant | 8/16 | NM_003907.3 | ENSP00000497160.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at