1-89011965-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_018284.3(GBP3):c.931G>A(p.Glu311Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000479 in 1,462,354 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018284.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GBP3 | NM_018284.3 | c.931G>A | p.Glu311Lys | missense_variant | Exon 7 of 11 | ENST00000370481.9 | NP_060754.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000716 AC: 1AN: 139712Hom.: 0 Cov.: 26
GnomAD3 exomes AF: 0.00000432 AC: 1AN: 231370Hom.: 0 AF XY: 0.00000802 AC XY: 1AN XY: 124676
GnomAD4 exome AF: 0.00000454 AC: 6AN: 1322642Hom.: 1 Cov.: 31 AF XY: 0.00000911 AC XY: 6AN XY: 658498
GnomAD4 genome AF: 0.00000716 AC: 1AN: 139712Hom.: 0 Cov.: 26 AF XY: 0.0000147 AC XY: 1AN XY: 68182
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.931G>A (p.E311K) alteration is located in exon 7 (coding exon 6) of the GBP3 gene. This alteration results from a G to A substitution at nucleotide position 931, causing the glutamic acid (E) at amino acid position 311 to be replaced by a lysine (K). 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