rs144892223
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_030973.4(MED25):c.638T>A(p.Val213Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V213A) has been classified as Likely benign.
Frequency
Consequence
NM_030973.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MED25 | NM_030973.4 | c.638T>A | p.Val213Glu | missense_variant | 6/18 | ENST00000312865.10 | |
MED25 | NM_001378355.1 | c.638T>A | p.Val213Glu | missense_variant | 6/18 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MED25 | ENST00000312865.10 | c.638T>A | p.Val213Glu | missense_variant | 6/18 | 1 | NM_030973.4 | ||
MED25 | ENST00000595185.5 | c.638T>A | p.Val213Glu | missense_variant | 6/7 | 1 | |||
MED25 | ENST00000538643.5 | c.181-613T>A | intron_variant | 1 | |||||
MED25 | ENST00000593767.3 | c.638T>A | p.Val213Glu | missense_variant | 6/18 | 3 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 33
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at