chr2-73263977-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001371389.2(FBXO41):c.1883G>A(p.Gly628Glu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000268 in 1,454,506 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G628V) 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.1883G>A | p.Gly628Glu | missense_variant | Exon 7 of 13 | ENST00000520530.3 | NP_001358318.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FBXO41 | ENST00000520530.3 | c.1883G>A | p.Gly628Glu | missense_variant | Exon 7 of 13 | 5 | NM_001371389.2 | ENSP00000430968.2 | ||
FBXO41 | ENST00000295133.9 | c.1883G>A | p.Gly628Glu | missense_variant | Exon 6 of 12 | 1 | ENSP00000295133.6 | |||
FBXO41 | ENST00000521871.5 | c.1883G>A | p.Gly628Glu | missense_variant | Exon 7 of 13 | 5 | ENSP00000428646.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000428 AC: 1AN: 233916Hom.: 0 AF XY: 0.00000787 AC XY: 1AN XY: 127002
GnomAD4 exome AF: 0.0000268 AC: 39AN: 1454506Hom.: 0 Cov.: 33 AF XY: 0.0000249 AC XY: 18AN XY: 722888
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at