22-50487395-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_017584.6(MIOX):c.26C>T(p.Pro9Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000167 in 1,613,404 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_017584.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MIOX | NM_017584.6 | c.26C>T | p.Pro9Leu | missense_variant | Exon 2 of 10 | ENST00000216075.11 | NP_060054.4 | |
MIOX | XM_011530705.3 | c.26C>T | p.Pro9Leu | missense_variant | Exon 2 of 6 | XP_011529007.1 | ||
MIOX | XM_047441443.1 | c.26C>T | p.Pro9Leu | missense_variant | Exon 2 of 9 | XP_047297399.1 | ||
MIOX | XM_005261925.5 | c.-109C>T | 5_prime_UTR_variant | Exon 1 of 9 | XP_005261982.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MIOX | ENST00000216075.11 | c.26C>T | p.Pro9Leu | missense_variant | Exon 2 of 10 | 1 | NM_017584.6 | ENSP00000216075.6 | ||
MIOX | ENST00000395732.7 | c.26C>T | p.Pro9Leu | missense_variant | Exon 2 of 10 | 1 | ENSP00000379081.3 | |||
MIOX | ENST00000395733.7 | c.26C>T | p.Pro9Leu | missense_variant | Exon 2 of 8 | 1 | ENSP00000379082.3 | |||
MIOX | ENST00000451761.1 | c.11C>T | p.Pro4Leu | missense_variant | Exon 1 of 9 | 3 | ENSP00000409894.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152236Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000479 AC: 12AN: 250588Hom.: 0 AF XY: 0.0000295 AC XY: 4AN XY: 135440
GnomAD4 exome AF: 0.0000178 AC: 26AN: 1461168Hom.: 0 Cov.: 32 AF XY: 0.0000151 AC XY: 11AN XY: 726906
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152236Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74374
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.26C>T (p.P9L) alteration is located in exon 2 (coding exon 2) of the MIOX gene. This alteration results from a C to T substitution at nucleotide position 26, causing the proline (P) at amino acid position 9 to be replaced by a leucine (L). 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