2-73260466-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001371389.2(FBXO41):c.2372G>T(p.Arg791Leu) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R791Q) has been classified 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 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FBXO41 | NM_001371389.2 | c.2372G>T | p.Arg791Leu | missense_variant | Exon 11 of 13 | ENST00000520530.3 | NP_001358318.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FBXO41 | ENST00000520530.3 | c.2372G>T | p.Arg791Leu | missense_variant | Exon 11 of 13 | 5 | NM_001371389.2 | ENSP00000430968.2 | ||
FBXO41 | ENST00000295133.9 | c.2372G>T | p.Arg791Leu | missense_variant | Exon 10 of 12 | 1 | ENSP00000295133.6 | |||
FBXO41 | ENST00000521871.5 | c.2372G>T | p.Arg791Leu | missense_variant | Exon 11 of 13 | 5 | ENSP00000428646.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2372G>T (p.R791L) alteration is located in exon 10 (coding exon 10) of the FBXO41 gene. This alteration results from a G to T substitution at nucleotide position 2372, causing the arginine (R) at amino acid position 791 to be replaced by a leucine (L). 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
Publications
No publications associated with this variant yet.