chr17-74862839-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_024417.5(FDXR):c.1454T>C(p.Met485Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,459,828 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024417.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
FDXR | NM_024417.5 | c.1454T>C | p.Met485Thr | missense_variant | 12/12 | ENST00000293195.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
FDXR | ENST00000293195.10 | c.1454T>C | p.Met485Thr | missense_variant | 12/12 | 1 | NM_024417.5 | P3 |
Frequencies
GnomAD3 genomes ? Cov.: 34
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459828Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 726332
GnomAD4 genome ? Cov.: 34
ClinVar
Submissions by phenotype
Auditory neuropathy-optic atrophy syndrome Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | 3billion | Mar 22, 2022 | The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (3CNET: 0.81>=0.75). A missense variant is a common mechanism. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.