chr9-133341657-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_133640.5(MED22):c.451G>A(p.Glu151Lys) variant causes a missense change. The variant allele was found at a frequency of 0.0000672 in 1,608,194 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_133640.5 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 |
---|---|---|---|---|---|---|---|---|
MED22 | NM_133640.5 | c.451G>A | p.Glu151Lys | missense_variant | Exon 5 of 5 | ENST00000343730.10 | NP_598395.1 | |
MED22 | NM_181491.3 | c.*2458G>A | 3_prime_UTR_variant | Exon 4 of 4 | NP_852468.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MED22 | ENST00000343730.10 | c.451G>A | p.Glu151Lys | missense_variant | Exon 5 of 5 | 1 | NM_133640.5 | ENSP00000342343.5 | ||
MED22 | ENST00000610888 | c.*2458G>A | 3_prime_UTR_variant | Exon 4 of 4 | 1 | ENSP00000478773.1 | ||||
MED22 | ENST00000614493 | c.*2458G>A | 3_prime_UTR_variant | Exon 4 of 4 | 2 | ENSP00000481493.1 | ||||
MED22 | ENST00000610672.4 | c.451G>A | p.Glu151Lys | missense_variant | Exon 5 of 5 | 2 | ENSP00000482438.1 |
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152228Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000412 AC: 10AN: 242882Hom.: 0 AF XY: 0.0000379 AC XY: 5AN XY: 131774
GnomAD4 exome AF: 0.0000694 AC: 101AN: 1455848Hom.: 0 Cov.: 29 AF XY: 0.0000539 AC XY: 39AN XY: 724162
GnomAD4 genome AF: 0.0000459 AC: 7AN: 152346Hom.: 0 Cov.: 32 AF XY: 0.0000671 AC XY: 5AN XY: 74490
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.451G>A (p.E151K) alteration is located in exon 5 (coding exon 4) of the MED22 gene. This alteration results from a G to A substitution at nucleotide position 451, causing the glutamic acid (E) at amino acid position 151 to be replaced by a lysine (K). 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