5-15928354-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_012304.5(FBXL7):c.592C>T(p.Arg198Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000341 in 1,613,770 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.592C>T | p.Arg198Trp | missense_variant | Exon 3 of 4 | 1 | NM_012304.5 | ENSP00000423630.1 | ||
FBXL7 | ENST00000510662.1 | c.451C>T | p.Arg151Trp | missense_variant | Exon 3 of 4 | 1 | ENSP00000425184.1 | |||
FBXL7 | ENST00000329673.8 | c.466C>T | p.Arg156Trp | missense_variant | Exon 1 of 2 | 2 | ENSP00000329632.8 |
Frequencies
GnomAD3 genomes AF: 0.0000328 AC: 5AN: 152230Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000445 AC: 11AN: 247256Hom.: 0 AF XY: 0.0000595 AC XY: 8AN XY: 134364
GnomAD4 exome AF: 0.0000342 AC: 50AN: 1461540Hom.: 0 Cov.: 36 AF XY: 0.0000358 AC XY: 26AN XY: 727052
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152230Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74392
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.592C>T (p.R198W) alteration is located in exon 3 (coding exon 3) of the FBXL7 gene. This alteration results from a C to T substitution at nucleotide position 592, causing the arginine (R) at amino acid position 198 to be replaced by a tryptophan (W). 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