6-53095524-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_033480.3(FBXO9):c.1065C>G(p.Asp355Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000117 in 1,458,282 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FBXO9 | NM_033480.3 | c.1065C>G | p.Asp355Glu | missense_variant | Exon 12 of 13 | ENST00000323557.12 | NP_258441.1 | |
FBXO9 | NM_012347.4 | c.1095C>G | p.Asp365Glu | missense_variant | Exon 11 of 12 | NP_036479.1 | ||
FBXO9 | NM_033481.3 | c.963C>G | p.Asp321Glu | missense_variant | Exon 12 of 13 | NP_258442.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FBXO9 | ENST00000323557.12 | c.1065C>G | p.Asp355Glu | missense_variant | Exon 12 of 13 | 1 | NM_033480.3 | ENSP00000326968.7 | ||
FBXO9 | ENST00000244426.10 | c.1095C>G | p.Asp365Glu | missense_variant | Exon 11 of 12 | 1 | ENSP00000244426.6 | |||
FBXO9 | ENST00000370939.7 | c.963C>G | p.Asp321Glu | missense_variant | Exon 12 of 13 | 1 | ENSP00000359977.3 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.0000117 AC: 17AN: 1458282Hom.: 0 Cov.: 31 AF XY: 0.00000689 AC XY: 5AN XY: 725310
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1095C>G (p.D365E) alteration is located in exon 11 (coding exon 11) of the FBXO9 gene. This alteration results from a C to G substitution at nucleotide position 1095, causing the aspartic acid (D) at amino acid position 365 to be replaced by a glutamic acid (E). 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
Publications
No publications associated with this variant yet.