rs5810000
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Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1
The NM_152446.5(CEP128):c.2807-36679del variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.30 ( 7345 hom., cov: 0)
Consequence
CEP128
NM_152446.5 intron
NM_152446.5 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.166
Genes affected
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -8 ACMG points.
BA1
?
GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.485 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CEP128 | NM_152446.5 | c.2807-36679del | intron_variant | ENST00000555265.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CEP128 | ENST00000555265.6 | c.2807-36679del | intron_variant | 5 | NM_152446.5 | P2 | |||
CEP128 | ENST00000281129.7 | c.2807-36679del | intron_variant | 1 | P2 | ||||
CEP128 | ENST00000554502.5 | c.1882-36679del | intron_variant, NMD_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.303 AC: 45931AN: 151410Hom.: 7334 Cov.: 0
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? AF: 0.303 AC: 45974AN: 151522Hom.: 7345 Cov.: 0 AF XY: 0.301 AC XY: 22278AN XY: 74000
GnomAD4 genome
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1600
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3478
ClinVar
Not reported inComputational scores
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Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at