5-15927980-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_012304.5(FBXL7):c.218C>T(p.Ser73Leu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S73W) has been classified 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.218C>T | p.Ser73Leu | missense_variant | Exon 3 of 4 | 1 | NM_012304.5 | ENSP00000423630.1 | ||
FBXL7 | ENST00000510662.1 | c.77C>T | p.Ser26Leu | missense_variant | Exon 3 of 4 | 1 | ENSP00000425184.1 | |||
FBXL7 | ENST00000329673.8 | c.92C>T | p.Ser31Leu | missense_variant | Exon 1 of 2 | 2 | ENSP00000329632.8 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD3 exomes AF: 0.00000429 AC: 1AN: 233110Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 125348
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 6.95e-7 AC: 1AN: 1439650Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 713040
GnomAD4 genome Cov.: 30
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.218C>T (p.S73L) 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 218, causing the serine (S) at amino acid position 73 to be replaced by a leucine (L). 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