19-38942655-C-T
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_024907.7(FBXO17):c.790G>A(p.Ala264Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000713 in 1,599,284 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024907.7 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FBXO17 | NM_024907.7 | c.790G>A | p.Ala264Thr | missense_variant | Exon 6 of 6 | ENST00000292852.9 | NP_079183.4 | |
FBXO17 | NM_148169.3 | c.817G>A | p.Ala273Thr | missense_variant | Exon 6 of 6 | NP_680474.1 | ||
FBXO17 | NR_104026.2 | n.1002G>A | non_coding_transcript_exon_variant | Exon 6 of 6 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152158Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000855 AC: 20AN: 233804Hom.: 0 AF XY: 0.000110 AC XY: 14AN XY: 127294
GnomAD4 exome AF: 0.0000760 AC: 110AN: 1447126Hom.: 2 Cov.: 29 AF XY: 0.0000875 AC XY: 63AN XY: 719952
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152158Hom.: 0 Cov.: 31 AF XY: 0.0000404 AC XY: 3AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.817G>A (p.A273T) alteration is located in exon 6 (coding exon 6) of the FBXO17 gene. This alteration results from a G to A substitution at nucleotide position 817, causing the alanine (A) at amino acid position 273 to be replaced by a threonine (T). 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