17-61946978-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005121.3(MED13):c.6331G>C(p.Glu2111Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005121.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MED13 | NM_005121.3 | c.6331G>C | p.Glu2111Gln | missense_variant | Exon 29 of 30 | ENST00000397786.7 | NP_005112.2 | |
MED13 | XM_011525551.3 | c.6172G>C | p.Glu2058Gln | missense_variant | Exon 28 of 29 | XP_011523853.1 | ||
MED13 | XM_011525553.4 | c.5662G>C | p.Glu1888Gln | missense_variant | Exon 26 of 27 | XP_011523855.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.