chr6-53073559-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_033480.3(FBXO9):c.169C>A(p.Pro57Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000548 in 1,460,480 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_033480.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FBXO9 | NM_033480.3 | c.169C>A | p.Pro57Thr | missense_variant | 3/13 | ENST00000323557.12 | |
FBXO9 | NM_012347.4 | c.199C>A | p.Pro67Thr | missense_variant | 2/12 | ||
FBXO9 | NM_033481.3 | c.67C>A | p.Pro23Thr | missense_variant | 3/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FBXO9 | ENST00000323557.12 | c.169C>A | p.Pro57Thr | missense_variant | 3/13 | 1 | NM_033480.3 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000203 AC: 5AN: 246742Hom.: 0 AF XY: 0.0000224 AC XY: 3AN XY: 133748
GnomAD4 exome AF: 0.00000548 AC: 8AN: 1460480Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 726332
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at