chr14-55351280-G-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_017943.4(FBXO34):c.890G>A(p.Arg297His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000463 in 1,614,060 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017943.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FBXO34 | NM_017943.4 | c.890G>A | p.Arg297His | missense_variant | 2/2 | ENST00000313833.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FBXO34 | ENST00000313833.5 | c.890G>A | p.Arg297His | missense_variant | 2/2 | 1 | NM_017943.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000545 AC: 83AN: 152234Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000231 AC: 58AN: 250854Hom.: 0 AF XY: 0.000236 AC XY: 32AN XY: 135540
GnomAD4 exome AF: 0.000454 AC: 664AN: 1461826Hom.: 1 Cov.: 67 AF XY: 0.000432 AC XY: 314AN XY: 727218
GnomAD4 genome ? AF: 0.000545 AC: 83AN: 152234Hom.: 1 Cov.: 32 AF XY: 0.000578 AC XY: 43AN XY: 74378
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 11, 2022 | The c.890G>A (p.R297H) alteration is located in exon 2 (coding exon 1) of the FBXO34 gene. This alteration results from a G to A substitution at nucleotide position 890, causing the arginine (R) at amino acid position 297 to be replaced by a histidine (H). 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