2-73260419-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001371389.2(FBXO41):c.2419G>A(p.Val807Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000118 in 1,612,090 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FBXO41 | NM_001371389.2 | c.2419G>A | p.Val807Ile | 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.2419G>A | p.Val807Ile | missense_variant | Exon 11 of 13 | 5 | NM_001371389.2 | ENSP00000430968.2 | ||
FBXO41 | ENST00000295133.9 | c.2419G>A | p.Val807Ile | missense_variant | Exon 10 of 12 | 1 | ENSP00000295133.6 | |||
FBXO41 | ENST00000521871.5 | c.2419G>A | p.Val807Ile | missense_variant | Exon 11 of 13 | 5 | ENSP00000428646.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152140Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000326 AC: 8AN: 245198Hom.: 0 AF XY: 0.0000226 AC XY: 3AN XY: 133006
GnomAD4 exome AF: 0.0000103 AC: 15AN: 1459832Hom.: 0 Cov.: 32 AF XY: 0.0000124 AC XY: 9AN XY: 725954
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152258Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74444
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2419G>A (p.V807I) alteration is located in exon 10 (coding exon 10) of the FBXO41 gene. This alteration results from a G to A substitution at nucleotide position 2419, causing the valine (V) at amino acid position 807 to be replaced by an isoleucine (I). 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