19-38942655-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_024907.7(FBXO17):c.790G>T(p.Ala264Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000691 in 1,447,126 control chromosomes in the GnomAD database, with no homozygous occurrence. 11/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A264T) has been classified 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FBXO17 | NM_024907.7 | c.790G>T | p.Ala264Ser | missense_variant | Exon 6 of 6 | ENST00000292852.9 | NP_079183.4 | |
FBXO17 | NM_148169.3 | c.817G>T | p.Ala273Ser | missense_variant | Exon 6 of 6 | NP_680474.1 | ||
FBXO17 | NR_104026.2 | n.1002G>T | non_coding_transcript_exon_variant | Exon 6 of 6 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 6.91e-7 AC: 1AN: 1447126Hom.: 0 Cov.: 29 AF XY: 0.00000139 AC XY: 1AN XY: 719952
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.