2-73263736-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001371389.2(FBXO41):c.2017G>A(p.Asp673Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000558 in 1,613,812 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_001371389.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FBXO41 | NM_001371389.2 | c.2017G>A | p.Asp673Asn | missense_variant | Exon 8 of 13 | ENST00000520530.3 | NP_001358318.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FBXO41 | ENST00000520530.3 | c.2017G>A | p.Asp673Asn | missense_variant | Exon 8 of 13 | 5 | NM_001371389.2 | ENSP00000430968.2 | ||
FBXO41 | ENST00000295133.9 | c.2017G>A | p.Asp673Asn | missense_variant | Exon 7 of 12 | 1 | ENSP00000295133.6 | |||
FBXO41 | ENST00000521871.5 | c.2017G>A | p.Asp673Asn | missense_variant | Exon 8 of 13 | 5 | ENSP00000428646.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152156Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000803 AC: 2AN: 249142Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135180
GnomAD4 exome AF: 0.00000547 AC: 8AN: 1461656Hom.: 0 Cov.: 33 AF XY: 0.00000413 AC XY: 3AN XY: 727108
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152156Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74312
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2017G>A (p.D673N) alteration is located in exon 7 (coding exon 7) of the FBXO41 gene. This alteration results from a G to A substitution at nucleotide position 2017, causing the aspartic acid (D) at amino acid position 673 to be replaced by an asparagine (N). 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