chr19-49830201-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_030973.4(MED25):c.802G>T(p.Val268Phe) variant causes a missense change. The variant allele was found at a frequency of 0.00000661 in 151,298 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. V268I) has been classified as Uncertain significance.
Frequency
Consequence
NM_030973.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MED25 | NM_030973.4 | c.802G>T | p.Val268Phe | missense_variant | 7/18 | ENST00000312865.10 | |
MED25 | NM_001378355.1 | c.802G>T | p.Val268Phe | missense_variant | 7/18 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MED25 | ENST00000312865.10 | c.802G>T | p.Val268Phe | missense_variant | 7/18 | 1 | NM_030973.4 | ||
MED25 | ENST00000538643.5 | c.181-310G>T | intron_variant | 1 | |||||
MED25 | ENST00000595185.5 | c.688+253G>T | intron_variant | 1 | |||||
MED25 | ENST00000593767.3 | c.802G>T | p.Val268Phe | missense_variant | 7/18 | 3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00000661 AC: 1AN: 151298Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.00000661 AC: 1AN: 151298Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 73876
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at