rs397514646
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 6P and 1B. PM1PM2PM5BP4
The NM_003907.3(EIF2B5):c.808G>A(p.Asp270Asn) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,706 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign 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. D270H) has been classified as Pathogenic.
Frequency
Consequence
NM_003907.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
EIF2B5 | NM_003907.3 | c.808G>A | p.Asp270Asn | missense_variant | 6/16 | ENST00000648915.2 | |
EIF2B5 | XM_047449148.1 | c.808G>A | p.Asp270Asn | missense_variant | 6/11 | ||
EIF2B5 | XM_011513265.1 | c.58G>A | p.Asp20Asn | missense_variant | 2/12 | ||
EIF2B5 | XM_011513266.4 | c.-94G>A | 5_prime_UTR_variant | 1/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
EIF2B5 | ENST00000648915.2 | c.808G>A | p.Asp270Asn | missense_variant | 6/16 | NM_003907.3 | P2 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251456Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135910
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461706Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 727148
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at