X-71096838-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005938.4(FOXO4):c.310C>A(p.Gln104Lys) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005938.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FOXO4 | ENST00000374259.8 | c.310C>A | p.Gln104Lys | missense_variant | Exon 1 of 3 | 1 | NM_005938.4 | ENSP00000363377.3 | ||
FOXO4 | ENST00000341558.3 | c.172-27C>A | intron_variant | Intron 1 of 3 | 5 | ENSP00000342209.3 | ||||
FOXO4 | ENST00000466874.1 | n.448-23C>A | intron_variant | Intron 1 of 2 | 3 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.310C>A (p.Q104K) alteration is located in exon 1 (coding exon 1) of the FOXO4 gene. This alteration results from a C to A substitution at nucleotide position 310, causing the glutamine (Q) at amino acid position 104 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
Publications
No publications associated with this variant yet.