5-15936598-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_012304.5(FBXL7):c.888C>G(p.His296Gln) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,458,836 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FBXL7 | ENST00000504595.2 | c.888C>G | p.His296Gln | missense_variant | Exon 4 of 4 | 1 | NM_012304.5 | ENSP00000423630.1 | ||
FBXL7 | ENST00000510662.1 | c.747C>G | p.His249Gln | missense_variant | Exon 4 of 4 | 1 | ENSP00000425184.1 | |||
FBXL7 | ENST00000329673.8 | c.762C>G | p.His254Gln | missense_variant | Exon 2 of 2 | 2 | ENSP00000329632.8 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1458836Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 725910
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.888C>G (p.H296Q) alteration is located in exon 4 (coding exon 4) of the FBXL7 gene. This alteration results from a C to G substitution at nucleotide position 888, causing the histidine (H) at amino acid position 296 to be replaced by a glutamine (Q). 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