rs372860195
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001194998.2(CEP152):āc.1862T>Gā(p.Ile621Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000139 in 1,437,194 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict 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. I621T) 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CEP152 | NM_001194998.2 | c.1862T>G | p.Ile621Ser | missense_variant | 14/27 | ENST00000380950.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CEP152 | ENST00000380950.7 | c.1862T>G | p.Ile621Ser | missense_variant | 14/27 | 1 | NM_001194998.2 | A2 | |
CEP152 | ENST00000399334.7 | c.1862T>G | p.Ile621Ser | missense_variant | 14/26 | 1 | P2 | ||
CEP152 | ENST00000325747.9 | c.1583T>G | p.Ile528Ser | missense_variant | 13/25 | 1 | A2 | ||
CEP152 | ENST00000559398.1 | n.562T>G | non_coding_transcript_exon_variant | 3/3 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000405 AC: 1AN: 246946Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133958
GnomAD4 exome AF: 0.00000139 AC: 2AN: 1437194Hom.: 0 Cov.: 28 AF XY: 0.00000140 AC XY: 1AN XY: 715966
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at