chr8-123504737-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_058229.4(FBXO32):c.845G>A(p.Arg282Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000316 in 1,612,620 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_058229.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FBXO32 | NM_058229.4 | c.845G>A | p.Arg282Gln | missense_variant | Exon 8 of 9 | ENST00000517956.5 | NP_478136.1 | |
FBXO32 | NM_001242463.2 | c.566G>A | p.Arg189Gln | missense_variant | Exon 6 of 7 | NP_001229392.1 | ||
FBXO32 | NM_148177.3 | c.410G>A | p.Arg137Gln | missense_variant | Exon 5 of 6 | NP_680482.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FBXO32 | ENST00000517956.5 | c.845G>A | p.Arg282Gln | missense_variant | Exon 8 of 9 | 1 | NM_058229.4 | ENSP00000428205.1 | ||
FBXO32 | ENST00000443022.2 | c.566G>A | p.Arg189Gln | missense_variant | Exon 6 of 7 | 1 | ENSP00000390790.2 | |||
FBXO32 | ENST00000287396.2 | n.719G>A | non_coding_transcript_exon_variant | Exon 5 of 6 | 1 | |||||
FBXO32 | ENST00000524000.5 | n.245G>A | non_coding_transcript_exon_variant | Exon 2 of 3 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152124Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000761 AC: 19AN: 249642Hom.: 0 AF XY: 0.0000741 AC XY: 10AN XY: 134954
GnomAD4 exome AF: 0.0000308 AC: 45AN: 1460378Hom.: 0 Cov.: 30 AF XY: 0.0000289 AC XY: 21AN XY: 726462
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152242Hom.: 0 Cov.: 32 AF XY: 0.0000672 AC XY: 5AN XY: 74428
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.845G>A (p.R282Q) alteration is located in exon 8 (coding exon 8) of the FBXO32 gene. This alteration results from a G to A substitution at nucleotide position 845, causing the arginine (R) at amino acid position 282 to be replaced by a glutamine (Q). 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