rs35196193
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_018994.3(FBXO42):c.1525G>A(p.Ala509Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0644 in 1,614,138 control chromosomes in the GnomAD database, including 3,637 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_018994.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FBXO42 | NM_018994.3 | c.1525G>A | p.Ala509Thr | missense_variant | 10/10 | ENST00000375592.8 | |
FBXO42 | XM_047422747.1 | c.1525G>A | p.Ala509Thr | missense_variant | 12/12 | ||
FBXO42 | XM_047422750.1 | c.1525G>A | p.Ala509Thr | missense_variant | 12/12 | ||
FBXO42 | XM_047422751.1 | c.1525G>A | p.Ala509Thr | missense_variant | 12/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FBXO42 | ENST00000375592.8 | c.1525G>A | p.Ala509Thr | missense_variant | 10/10 | 1 | NM_018994.3 | P1 | |
FBXO42 | ENST00000444116.1 | c.679G>A | p.Ala227Thr | missense_variant | 4/4 | 5 | |||
FBXO42 | ENST00000456164.5 | c.679G>A | p.Ala227Thr | missense_variant | 3/3 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0489 AC: 7435AN: 152160Hom.: 235 Cov.: 32
GnomAD3 exomes AF: 0.0550 AC: 13824AN: 251458Hom.: 485 AF XY: 0.0582 AC XY: 7916AN XY: 135904
GnomAD4 exome AF: 0.0660 AC: 96555AN: 1461860Hom.: 3402 Cov.: 31 AF XY: 0.0664 AC XY: 48285AN XY: 727234
GnomAD4 genome ? AF: 0.0488 AC: 7437AN: 152278Hom.: 235 Cov.: 32 AF XY: 0.0481 AC XY: 3581AN XY: 74462
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at