chr13-26353803-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001260.3(CDK8):āc.379A>Gā(p.Met127Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,586 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. M127I) has been classified as Uncertain significance.
Frequency
Consequence
NM_001260.3 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CDK8 | NM_001260.3 | c.379A>G | p.Met127Val | missense_variant | 4/13 | ENST00000381527.8 | |
CDK8 | NM_001318368.2 | c.379A>G | p.Met127Val | missense_variant | 4/13 | ||
CDK8 | XM_047430033.1 | c.199A>G | p.Met67Val | missense_variant | 5/14 | ||
CDK8 | NM_001346501.2 | c.-83A>G | 5_prime_UTR_variant | 4/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CDK8 | ENST00000381527.8 | c.379A>G | p.Met127Val | missense_variant | 4/13 | 1 | NM_001260.3 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251146Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135742
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460586Hom.: 0 Cov.: 29 AF XY: 0.00 AC XY: 0AN XY: 726638
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 | Revvity Omics, Revvity | Jun 03, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at