rs3087335
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001798.5(CDK2):c.44A>C(p.Tyr15Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001798.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CDK2 | NM_001798.5 | c.44A>C | p.Tyr15Ser | missense_variant | 1/7 | ENST00000266970.9 | |
CDK2 | NM_052827.4 | c.44A>C | p.Tyr15Ser | missense_variant | 1/6 | ||
CDK2 | NM_001290230.2 | c.44A>C | p.Tyr15Ser | missense_variant | 1/5 | ||
CDK2 | XM_011537732.2 | c.44A>C | p.Tyr15Ser | missense_variant | 1/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CDK2 | ENST00000266970.9 | c.44A>C | p.Tyr15Ser | missense_variant | 1/7 | 1 | NM_001798.5 | P1 | |
ENST00000554022.1 | n.351T>G | non_coding_transcript_exon_variant | 2/2 | 4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at