NM_014956.5(CEP164):c.347del (p.Lys116fs) AND CEP164-related disorder

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 15, 2024
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV004753260.1

Allele description [Variation Report for NM_014956.5(CEP164):c.347del (p.Lys116fs)]

NM_014956.5(CEP164):c.347del (p.Lys116fs)

Gene:

CEP164:centrosomal protein 164 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11q23.3

Genomic location:

Preferred name:

NM_014956.5(CEP164):c.347del (p.Lys116fs)

HGVS:

NC_000011.10:g.117351942del
NG_033032.1:g.35165del
NM_001271933.2:c.347del
NM_014956.4:c.337del
NM_014956.5:c.347delMANE SELECT
NP_001258862.1:p.Lys116fs
NP_055771.4:p.Lys116fs
NC_000011.9:g.117222648del
NC_000011.9:g.117222658del
NM_014956.4:c.337del
NM_014956.4:c.347del
NM_014956.4:c.347delA
NM_014956.5:c.347del

Protein change:

K116fs

Links:

dbSNP: rs751277203

NCBI 1000 Genomes Browser:

rs751277203

Molecular consequence:

NM_001271933.2:c.347del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_014956.5:c.347del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: CEP164-related disorder
Synonyms:: CEP164-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005347059	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Likely pathogenic (Jul 15, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005347059

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Likely pathogenic
(Jul 15, 2024)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005347059.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The CEP164 c.347delA variant is predicted to result in a frameshift and premature protein termination (p.Lys116Argfs*22). To our knowledge, this variant has not been reported in the literature. This variant is reported in 5.9% of alleles in individuals of Latino descent in gnomAD. Frameshift variants in CEP164 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 7, 2025

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