1-44850980-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_020365.5(EIF2B3):c.1330G>A(p.Val444Met) variant causes a missense change. The variant allele was found at a frequency of 0.0000273 in 1,613,980 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 (★). Synonymous variant affecting the same amino acid position (i.e. V444V) has been classified as Likely benign.
Frequency
Consequence
NM_020365.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
EIF2B3 | ENST00000360403.7 | c.1330G>A | p.Val444Met | missense_variant | Exon 12 of 12 | 1 | NM_020365.5 | ENSP00000353575.2 | ||
EIF2B3 | ENST00000620860 | c.*20G>A | 3_prime_UTR_variant | Exon 11 of 11 | 1 | ENSP00000483996.1 | ||||
EIF2B3 | ENST00000439363 | c.*20G>A | 3_prime_UTR_variant | Exon 7 of 7 | 3 | ENSP00000396985.1 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152140Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251322Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135846
GnomAD4 exome AF: 0.0000246 AC: 36AN: 1461840Hom.: 0 Cov.: 31 AF XY: 0.0000193 AC XY: 14AN XY: 727234
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152140Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74324
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.1330G>A (p.V444M) alteration is located in exon 12 (coding exon 11) of the EIF2B3 gene. This alteration results from a G to A substitution at nucleotide position 1330, causing the valine (V) at amino acid position 444 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at