6-108561522-G-A
Variant summary
Our verdict is Uncertain significance. The variant received 1 ACMG points: 2P and 1B. PM2BP4
The NM_001455.4(FOXO3):c.314G>A(p.Gly105Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000232 in 1,292,208 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 (★).
Frequency
Consequence
NM_001455.4 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FOXO3 | ENST00000406360.2 | c.314G>A | p.Gly105Glu | missense_variant | Exon 1 of 3 | 1 | NM_001455.4 | ENSP00000385824.1 | ||
FOXO3 | ENST00000343882.10 | c.314G>A | p.Gly105Glu | missense_variant | Exon 2 of 4 | 1 | ENSP00000339527.6 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000232 AC: 3AN: 1292208Hom.: 0 Cov.: 33 AF XY: 0.00000158 AC XY: 1AN XY: 631074 show subpopulations
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.314G>A (p.G105E) alteration is located in exon 1 (coding exon 1) of the FOXO3 gene. This alteration results from a G to A substitution at nucleotide position 314, causing the glycine (G) at amino acid position 105 to be replaced by a glutamic acid (E). 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