13-26353822-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001260.3(CDK8):āc.398A>Gā(p.Tyr133Cys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,460,742 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001260.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CDK8 | NM_001260.3 | c.398A>G | p.Tyr133Cys | missense_variant | 4/13 | ENST00000381527.8 | |
CDK8 | NM_001318368.2 | c.398A>G | p.Tyr133Cys | missense_variant | 4/13 | ||
CDK8 | XM_047430033.1 | c.218A>G | p.Tyr73Cys | missense_variant | 5/14 | ||
CDK8 | NM_001346501.2 | c.-64A>G | 5_prime_UTR_variant | 4/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CDK8 | ENST00000381527.8 | c.398A>G | p.Tyr133Cys | missense_variant | 4/13 | 1 | NM_001260.3 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460742Hom.: 0 Cov.: 29 AF XY: 0.00000275 AC XY: 2AN XY: 726742
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Intellectual developmental disorder with hypotonia and behavioral abnormalities Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | MVZ Medizinische Genetik Mainz | Nov 21, 2023 | ACMG Criteria: PM2_SUP,PP2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.