1-147187081-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 3P and 1B. PM2PP3BP4
The NM_001461.4(FMO5):c.1421G>A(p.Arg474His) variant causes a missense change. The variant allele was found at a frequency of 0.0000613 in 1,614,060 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001461.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FMO5 | NM_001461.4 | c.1421G>A | p.Arg474His | missense_variant | Exon 9 of 9 | ENST00000254090.9 | NP_001452.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152064Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000151 AC: 38AN: 251404Hom.: 0 AF XY: 0.000147 AC XY: 20AN XY: 135874
GnomAD4 exome AF: 0.0000629 AC: 92AN: 1461878Hom.: 0 Cov.: 32 AF XY: 0.0000633 AC XY: 46AN XY: 727242
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152182Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74398
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1421G>A (p.R474H) alteration is located in exon 9 (coding exon 8) of the FMO5 gene. This alteration results from a G to A substitution at nucleotide position 1421, causing the arginine (R) at amino acid position 474 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