rs879255575

Positions:

• chr12-94403234-AGCAATTCCAATTTTTGTG-A

Variant summary

Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM2 PM4 PP5

The NM_016122.3(CEP83):​c.335_352delCACAAAAATTGGAATTGC​(p.Pro112_Leu117del) variant causes a disruptive inframe deletion change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Pathogenic (no stars).

• Frequency: Genomes: not found (cov: 32)
• Consequence: CEP83 NM_016122.3 disruptive_inframe_deletion
• Clinical Significance: Pathogenic no assertion criteria provided P:1
• 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]

CEP83 (HGNC:):

ACMG classification

Verdict is Uncertain_significance. Variant got 5 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• 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	Protein	UniProt
CEP83	NM_016122.3	c.335_352delCACAAAAATTGGAATTGC	p.Pro112_Leu117del	disruptive_inframe_deletion	5/17	ENST00000397809.10	NP_057206.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
CEP83	ENST00000397809.10	c.335_352delCACAAAAATTGGAATTGC	p.Pro112_Leu117del	disruptive_inframe_deletion	5/17	1	NM_016122.3	ENSP00000380911.4

Frequencies

GnomAD3 genomes Cov.: 32

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome Cov.: 32

ClinVar

Significance: Pathogenic

Submissions summary: Pathogenic:1

Revision: no assertion criteria provided

Submissions by phenotype

Nephronophthisis 18 Pathogenic:1

Pathogenic, no assertion criteria provided

literature only

OMIM

Jun 05, 2014

- -

Computational scores

Source: dbNSFP v4.3

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs879255575; hg19: chr12-94797010;