rs587778179
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_016507.4(CDK12):c.3859T>C(p.Ser1287Pro) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. S1287A) has been classified as Uncertain significance.
Frequency
Consequence
NM_016507.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CDK12 | NM_016507.4 | c.3859T>C | p.Ser1287Pro | missense_variant | 14/14 | ENST00000447079.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CDK12 | ENST00000447079.6 | c.3859T>C | p.Ser1287Pro | missense_variant | 14/14 | 1 | NM_016507.4 | P4 | |
CDK12 | ENST00000430627.6 | c.3832T>C | p.Ser1278Pro | missense_variant | 14/14 | 1 | A1 | ||
CDK12 | ENST00000584336.1 | n.821T>C | non_coding_transcript_exon_variant | 1/1 | |||||
CDK12 | ENST00000559663.2 | c.3760+4386T>C | intron_variant, NMD_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 34
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at