NM_024907.7:c.561G>C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_024907.7(FBXO17):c.561G>C(p.Trp187Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000062 in 1,613,974 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_024907.7 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 |
---|---|---|---|---|---|---|---|---|
FBXO17 | NM_024907.7 | c.561G>C | p.Trp187Cys | missense_variant | Exon 5 of 6 | ENST00000292852.9 | NP_079183.4 | |
FBXO17 | NM_148169.3 | c.588G>C | p.Trp196Cys | missense_variant | Exon 5 of 6 | NP_680474.1 | ||
FBXO17 | NR_104026.2 | n.773G>C | non_coding_transcript_exon_variant | Exon 5 of 6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FBXO17 | ENST00000292852.9 | c.561G>C | p.Trp187Cys | missense_variant | Exon 5 of 6 | 1 | NM_024907.7 | ENSP00000292852.3 | ||
ENSG00000269547 | ENST00000599996.1 | c.273G>C | p.Trp91Cys | missense_variant | Exon 4 of 20 | 2 | ENSP00000472465.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152268Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250802Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135604
GnomAD4 exome AF: 0.00000547 AC: 8AN: 1461706Hom.: 0 Cov.: 31 AF XY: 0.00000550 AC XY: 4AN XY: 727176
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152268Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74390
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.588G>C (p.W196C) alteration is located in exon 5 (coding exon 5) of the FBXO17 gene. This alteration results from a G to C substitution at nucleotide position 588, causing the tryptophan (W) at amino acid position 196 to be replaced by a cysteine (C). 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