chr4-15625853-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_012161.4(FBXL5):c.1249G>T(p.Gly417Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000551 in 1,613,910 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_012161.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000309 AC: 47AN: 152098Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000518 AC: 13AN: 251020Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135812
GnomAD4 exome AF: 0.0000287 AC: 42AN: 1461812Hom.: 0 Cov.: 32 AF XY: 0.0000193 AC XY: 14AN XY: 727208
GnomAD4 genome AF: 0.000309 AC: 47AN: 152098Hom.: 0 Cov.: 33 AF XY: 0.000310 AC XY: 23AN XY: 74282
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1249G>T (p.G417C) alteration is located in exon 9 (coding exon 9) of the FBXL5 gene. This alteration results from a G to T substitution at nucleotide position 1249, causing the glycine (G) at amino acid position 417 to be replaced by a cysteine (C). 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