2-73264354-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001371389.2(FBXO41):c.1730G>A(p.Arg577Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000694 in 1,613,566 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001371389.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FBXO41 | NM_001371389.2 | c.1730G>A | p.Arg577Gln | missense_variant | Exon 6 of 13 | ENST00000520530.3 | NP_001358318.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FBXO41 | ENST00000520530.3 | c.1730G>A | p.Arg577Gln | missense_variant | Exon 6 of 13 | 5 | NM_001371389.2 | ENSP00000430968.2 | ||
FBXO41 | ENST00000295133.9 | c.1730G>A | p.Arg577Gln | missense_variant | Exon 5 of 12 | 1 | ENSP00000295133.6 | |||
FBXO41 | ENST00000521871.5 | c.1730G>A | p.Arg577Gln | missense_variant | Exon 6 of 13 | 5 | ENSP00000428646.1 |
Frequencies
GnomAD3 genomes AF: 0.0000788 AC: 12AN: 152206Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000125 AC: 31AN: 248438Hom.: 0 AF XY: 0.000111 AC XY: 15AN XY: 134942
GnomAD4 exome AF: 0.0000684 AC: 100AN: 1461360Hom.: 1 Cov.: 33 AF XY: 0.0000729 AC XY: 53AN XY: 726966
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152206Hom.: 0 Cov.: 33 AF XY: 0.0000807 AC XY: 6AN XY: 74346
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1730G>A (p.R577Q) alteration is located in exon 5 (coding exon 5) of the FBXO41 gene. This alteration results from a G to A substitution at nucleotide position 1730, causing the arginine (R) at amino acid position 577 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