chr8-117528807-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_080651.4(MED30):c.334G>A(p.Glu112Lys) variant causes a missense, splice region change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000151 in 1,594,262 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 2/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_080651.4 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
MED30 | NM_080651.4 | c.334G>A | p.Glu112Lys | missense_variant, splice_region_variant | 2/4 | ENST00000297347.7 | |
MED30 | NM_001363182.2 | c.334G>A | p.Glu112Lys | missense_variant, splice_region_variant | 2/4 | ||
MED30 | NM_001282986.2 | c.334G>A | p.Glu112Lys | missense_variant, splice_region_variant | 2/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MED30 | ENST00000297347.7 | c.334G>A | p.Glu112Lys | missense_variant, splice_region_variant | 2/4 | 1 | NM_080651.4 | P1 | |
MED30 | ENST00000522839.1 | c.334G>A | p.Glu112Lys | missense_variant, splice_region_variant | 2/3 | 1 | |||
MED30 | ENST00000519879.1 | n.447G>A | non_coding_transcript_exon_variant | 2/2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 151820Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000858 AC: 2AN: 233088Hom.: 0 AF XY: 0.0000158 AC XY: 2AN XY: 126482
GnomAD4 exome AF: 0.0000139 AC: 20AN: 1442442Hom.: 0 Cov.: 30 AF XY: 0.0000125 AC XY: 9AN XY: 717380
GnomAD4 genome AF: 0.0000263 AC: 4AN: 151820Hom.: 0 Cov.: 32 AF XY: 0.0000270 AC XY: 2AN XY: 74138
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at