chr15-48781257-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001194998.2(CEP152):c.1516A>C(p.Thr506Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,186 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. T506A) has been classified as Uncertain significance.
Frequency
Consequence
NM_001194998.2 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 |
---|---|---|---|---|---|---|---|
CEP152 | NM_001194998.2 | c.1516A>C | p.Thr506Pro | missense_variant | 12/27 | ENST00000380950.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CEP152 | ENST00000380950.7 | c.1516A>C | p.Thr506Pro | missense_variant | 12/27 | 1 | NM_001194998.2 | A2 | |
CEP152 | ENST00000399334.7 | c.1516A>C | p.Thr506Pro | missense_variant | 12/26 | 1 | P2 | ||
CEP152 | ENST00000325747.9 | c.1237A>C | p.Thr413Pro | missense_variant | 11/25 | 1 | A2 | ||
CEP152 | ENST00000560322.5 | c.1516A>C | p.Thr506Pro | missense_variant | 12/13 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249320Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135284
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461186Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726940
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at