chr9-131860603-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004269.4(MED27):c.871G>A(p.Gly291Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000112 in 1,607,968 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004269.4 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 |
---|---|---|---|---|---|---|---|---|
MED27 | NM_004269.4 | c.871G>A | p.Gly291Ser | missense_variant | Exon 8 of 8 | ENST00000292035.10 | NP_004260.2 | |
MED27 | NM_001253881.2 | c.763G>A | p.Gly255Ser | missense_variant | Exon 7 of 7 | NP_001240810.1 | ||
MED27 | XM_017015329.2 | c.961G>A | p.Gly321Ser | missense_variant | Exon 9 of 9 | XP_016870818.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MED27 | ENST00000292035.10 | c.871G>A | p.Gly291Ser | missense_variant | Exon 8 of 8 | 1 | NM_004269.4 | ENSP00000292035.5 | ||
MED27 | ENST00000357028.6 | c.763G>A | p.Gly255Ser | missense_variant | Exon 7 of 7 | 1 | ENSP00000349530.3 | |||
MED27 | ENST00000651950.1 | c.801+2460G>A | intron_variant | Intron 7 of 8 | ENSP00000498604.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152170Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000125 AC: 3AN: 240510Hom.: 0 AF XY: 0.00000767 AC XY: 1AN XY: 130342
GnomAD4 exome AF: 0.0000117 AC: 17AN: 1455682Hom.: 0 Cov.: 31 AF XY: 0.00000829 AC XY: 6AN XY: 723750
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152286Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74472
ClinVar
Submissions by phenotype
Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia Pathogenic:1
- -
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; This variant is associated with the following publications: (PMID: 33443317) -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at