chr5-108380854-G-C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_001163315.3(FBXL17):āc.838C>Gā(p.Arg280Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000225 in 1,246,080 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001163315.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FBXL17 | NM_001163315.3 | c.838C>G | p.Arg280Gly | missense_variant | 1/9 | ENST00000542267.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FBXL17 | ENST00000542267.7 | c.838C>G | p.Arg280Gly | missense_variant | 1/9 | 1 | NM_001163315.3 | P1 | |
FBXL17 | ENST00000518486.1 | n.110C>G | non_coding_transcript_exon_variant | 1/3 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 151950Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000210 AC: 23AN: 1094130Hom.: 0 Cov.: 33 AF XY: 0.0000116 AC XY: 6AN XY: 516722
GnomAD4 genome AF: 0.0000329 AC: 5AN: 151950Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74196
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 31, 2022 | The c.838C>G (p.R280G) alteration is located in exon 1 (coding exon 1) of the FBXL17 gene. This alteration results from a C to G substitution at nucleotide position 838, causing the arginine (R) at amino acid position 280 to be replaced by a glycine (G). 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