2-68464886-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001024680.3(FBXO48):c.260G>A(p.Cys87Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.00000496 in 1,613,560 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001024680.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FBXO48 | NM_001024680.3 | c.260G>A | p.Cys87Tyr | missense_variant | Exon 3 of 4 | ENST00000377957.4 | NP_001019851.1 | |
FBXO48 | XM_005264407.4 | c.260G>A | p.Cys87Tyr | missense_variant | Exon 3 of 4 | XP_005264464.1 | ||
FBXO48 | XM_017004437.3 | c.260G>A | p.Cys87Tyr | missense_variant | Exon 3 of 4 | XP_016859926.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152198Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000797 AC: 2AN: 251092Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135740
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461362Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 727000
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152198Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74350
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.260G>A (p.C87Y) alteration is located in exon 3 (coding exon 1) of the FBXO48 gene. This alteration results from a G to A substitution at nucleotide position 260, causing the cysteine (C) at amino acid position 87 to be replaced by a tyrosine (Y). 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