NM_133640.5:c.85A>G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_133640.5(MED22):c.85A>G(p.Ile29Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000124 in 1,612,930 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_133640.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MED22 | NM_133640.5 | c.85A>G | p.Ile29Val | missense_variant | Exon 2 of 5 | ENST00000343730.10 | NP_598395.1 | |
MED22 | NM_181491.3 | c.85A>G | p.Ile29Val | missense_variant | Exon 2 of 4 | NP_852468.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MED22 | ENST00000343730.10 | c.85A>G | p.Ile29Val | missense_variant | Exon 2 of 5 | 1 | NM_133640.5 | ENSP00000342343.5 | ||
MED22 | ENST00000614493.4 | c.85A>G | p.Ile29Val | missense_variant | Exon 2 of 4 | 2 | ENSP00000481493.1 | |||
MED22 | ENST00000494177.6 | c.85A>G | p.Ile29Val | missense_variant | Exon 2 of 4 | 4 | ENSP00000420815.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152098Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250802Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135638
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460832Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726780
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152098Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74280
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.85A>G (p.I29V) alteration is located in exon 2 (coding exon 1) of the MED22 gene. This alteration results from a A to G substitution at nucleotide position 85, causing the isoleucine (I) at amino acid position 29 to be replaced by a valine (V). 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