rs879255575
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM4PP5
The NM_016122.3(CEP83):c.335_352del(p.Pro112_Leu117del) variant causes a inframe deletion change. Variant has been reported in ClinVar as Pathogenic (no stars).
Frequency
Genomes: not found (cov: 32)
Consequence
CEP83
NM_016122.3 inframe_deletion
NM_016122.3 inframe_deletion
Scores
Not classified
Clinical Significance
Conservation
PhyloP100: 7.12
Genes affected
CEP83 (HGNC:17966): (centrosomal protein 83) The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability. [provided by RefSeq, Oct 2016]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 3 ACMG points.
PM4
?
Nonframeshift variant in NON repetitive region in NM_016122.3.
PP5
?
Variant 12-94403234-AGCAATTCCAATTTTTGTG-A is Pathogenic according to our data. Variant chr12-94403234-AGCAATTCCAATTTTTGTG-A is described in ClinVar as [Pathogenic]. Clinvar id is 139541.Status of the report is no_assertion_criteria_provided, 0 stars. Variant chr12-94403234-AGCAATTCCAATTTTTGTG-A is described in Lovd as [Likely_pathogenic].
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CEP83 | NM_016122.3 | c.335_352del | p.Pro112_Leu117del | inframe_deletion | 5/17 | ENST00000397809.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CEP83 | ENST00000397809.10 | c.335_352del | p.Pro112_Leu117del | inframe_deletion | 5/17 | 1 | NM_016122.3 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 genomes
?
Cov.:
32
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome ? Cov.: 32
GnomAD4 genome
?
Cov.:
32
ClinVar
Significance: Pathogenic
Submissions summary: Pathogenic:1
Revision: no assertion criteria provided
LINK: link
Submissions by phenotype
Nephronophthisis 18 Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Jun 05, 2014 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at