1-89011923-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_018284.3(GBP3):c.973G>A(p.Ala325Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000465 in 1,462,278 control chromosomes in the GnomAD database, including 15 homozygotes. 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 Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GBP3 | NM_018284.3 | c.973G>A | p.Ala325Thr | missense_variant | Exon 7 of 11 | ENST00000370481.9 | NP_060754.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000430 AC: 6AN: 139434Hom.: 0 Cov.: 26
GnomAD3 exomes AF: 0.0000432 AC: 10AN: 231622Hom.: 2 AF XY: 0.0000401 AC XY: 5AN XY: 124814
GnomAD4 exome AF: 0.0000363 AC: 48AN: 1322732Hom.: 10 Cov.: 31 AF XY: 0.0000380 AC XY: 25AN XY: 658558
GnomAD4 genome AF: 0.000143 AC: 20AN: 139546Hom.: 5 Cov.: 26 AF XY: 0.0000147 AC XY: 1AN XY: 68120
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.973G>A (p.A325T) 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 973, causing the alanine (A) at amino acid position 325 to be replaced by a threonine (T). 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