22-50487680-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_017584.6(MIOX):c.115C>T(p.Arg39Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000694 in 1,613,468 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017584.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MIOX | ENST00000216075.11 | c.115C>T | p.Arg39Cys | missense_variant | Exon 3 of 10 | 1 | NM_017584.6 | ENSP00000216075.6 | ||
MIOX | ENST00000395732.7 | c.115C>T | p.Arg39Cys | missense_variant | Exon 3 of 10 | 1 | ENSP00000379081.3 | |||
MIOX | ENST00000395733.7 | c.115C>T | p.Arg39Cys | missense_variant | Exon 3 of 8 | 1 | ENSP00000379082.3 | |||
MIOX | ENST00000451761.1 | c.100C>T | p.Arg34Cys | missense_variant | Exon 2 of 9 | 3 | ENSP00000409894.1 |
Frequencies
GnomAD3 genomes AF: 0.000131 AC: 20AN: 152094Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000279 AC: 7AN: 250602Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135576
GnomAD4 exome AF: 0.0000616 AC: 90AN: 1461256Hom.: 0 Cov.: 33 AF XY: 0.0000523 AC XY: 38AN XY: 726930
GnomAD4 genome AF: 0.000145 AC: 22AN: 152212Hom.: 0 Cov.: 33 AF XY: 0.000175 AC XY: 13AN XY: 74444
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.115C>T (p.R39C) alteration is located in exon 3 (coding exon 3) of the MIOX gene. This alteration results from a C to T substitution at nucleotide position 115, causing the arginine (R) at amino acid position 39 to be replaced by a cysteine (C). 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