5-15928132-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_012304.5(FBXL7):c.370C>G(p.Gln124Glu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000132 in 152,042 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_012304.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FBXL7 | ENST00000504595.2 | c.370C>G | p.Gln124Glu | missense_variant | Exon 3 of 4 | 1 | NM_012304.5 | ENSP00000423630.1 | ||
FBXL7 | ENST00000510662.1 | c.229C>G | p.Gln77Glu | missense_variant | Exon 3 of 4 | 1 | ENSP00000425184.1 | |||
FBXL7 | ENST00000329673.8 | c.244C>G | p.Gln82Glu | missense_variant | Exon 1 of 2 | 2 | ENSP00000329632.8 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152042Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 36
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152042Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74244
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.370C>G (p.Q124E) alteration is located in exon 3 (coding exon 3) of the FBXL7 gene. This alteration results from a C to G substitution at nucleotide position 370, causing the glutamine (Q) at amino acid position 124 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