rs4135013
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001254.4(CDC6):c.896C>A(p.Thr299Lys) variant causes a missense change. 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 variant affecting the same amino acid position, but resulting in a different missense (i.e. T299M) has been classified as Benign.
Frequency
Consequence
NM_001254.4 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 |
---|---|---|---|---|---|---|---|
CDC6 | NM_001254.4 | c.896C>A | p.Thr299Lys | missense_variant | 6/12 | ENST00000209728.9 | |
CDC6 | XM_011525541.3 | c.896C>A | p.Thr299Lys | missense_variant | 6/13 | ||
CDC6 | XM_011525542.2 | c.896C>A | p.Thr299Lys | missense_variant | 6/13 | ||
CDC6 | XM_047437207.1 | c.896C>A | p.Thr299Lys | missense_variant | 6/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CDC6 | ENST00000209728.9 | c.896C>A | p.Thr299Lys | missense_variant | 6/12 | 1 | NM_001254.4 | P1 | |
CDC6 | ENST00000649662.1 | c.896C>A | p.Thr299Lys | missense_variant | 6/12 | P1 | |||
CDC6 | ENST00000582402.1 | n.203-1347C>A | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at