9-127397968-G-A
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_014580.5(SLC2A8):c.283G>A(p.Gly95Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000433 in 1,384,714 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014580.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SLC2A8 | NM_014580.5 | c.283G>A | p.Gly95Arg | missense_variant | Exon 3 of 10 | ENST00000373371.8 | NP_055395.2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000292 AC: 4AN: 136856Hom.: 0 AF XY: 0.0000134 AC XY: 1AN XY: 74416
GnomAD4 exome AF: 0.00000433 AC: 6AN: 1384714Hom.: 0 Cov.: 31 AF XY: 0.00000292 AC XY: 2AN XY: 683798
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.283G>A (p.G95R) alteration is located in exon 3 (coding exon 3) of the SLC2A8 gene. This alteration results from a G to A substitution at nucleotide position 283, causing the glycine (G) at amino acid position 95 to be replaced by an arginine (R). 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