7-102813359-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001394494.2(FBXL13):c.2461G>A(p.Glu821Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,460,292 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001394494.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FBXL13 | NM_001394494.2 | c.2461G>A | p.Glu821Lys | missense_variant | Exon 21 of 21 | NP_001381423.1 | ||
FBXL13 | NM_145032.3 | c.2191G>A | p.Glu731Lys | missense_variant | Exon 20 of 20 | NP_659469.3 | ||
FBXL13 | NM_001287150.2 | c.2107G>A | p.Glu703Lys | missense_variant | Exon 19 of 19 | NP_001274079.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249576Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 134812
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1460292Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726308
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2191G>A (p.E731K) alteration is located in exon 20 (coding exon 18) of the FBXL13 gene. This alteration results from a G to A substitution at nucleotide position 2191, causing the glutamic acid (E) at amino acid position 731 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