NM_001330691.3(CEP78):c.1285_1288dup (p.Pro430fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 27, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV003562326.2

Allele description [Variation Report for NM_001330691.3(CEP78):c.1285_1288dup (p.Pro430fs)]

NM_001330691.3(CEP78):c.1285_1288dup (p.Pro430fs)

Gene:

CEP78:centrosomal protein 78 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

9q21.2

Genomic location:

Preferred name:

NM_001330691.3(CEP78):c.1285_1288dup (p.Pro430fs)

HGVS:

NC_000009.12:g.78254869_78254872dup
NG_053171.1:g.23808_23811dup
NM_001098802.3:c.1288_1291dup
NM_001330691.3:c.1285_1288dupMANE SELECT
NM_001330693.3:c.1285_1288dup
NM_001330694.2:c.1285_1288dup
NM_001349838.2:c.1285_1288dup
NM_001349839.2:c.1288_1291dup
NM_001349840.2:c.1288_1291dup
NM_032171.3:c.1288_1291dup
NP_001092272.1:p.Pro431fs
NP_001317620.1:p.Pro430fs
NP_001317622.1:p.Pro430fs
NP_001317623.1:p.Pro430fs
NP_001336767.1:p.Pro430fs
NP_001336768.1:p.Pro431fs
NP_001336769.1:p.Pro431fs
NP_115547.1:p.Pro431fs
NC_000009.11:g.80869784_80869785insAGTC
NC_000009.11:g.80869785_80869788dup

Protein change:

P430fs

Molecular consequence:

NM_001098802.3:c.1288_1291dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330691.3:c.1285_1288dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330693.3:c.1285_1288dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330694.2:c.1285_1288dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001349838.2:c.1285_1288dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001349839.2:c.1288_1291dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001349840.2:c.1288_1291dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_032171.3:c.1288_1291dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004299186	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Sep 27, 2023)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 27588451, 27588452, 27627988, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004299186

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Sep 27, 2023)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

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

Citations

PubMed

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.

Nikopoulos K, Farinelli P, Giangreco B, Tsika C, Royer-Bertrand B, Mbefo MK, Bedoni N, Kjellström U, El Zaoui I, Di Gioia SA, Balzano S, Cisarova K, Messina A, Decembrini S, Plainis S, Blazaki SV, Khan MI, Micheal S, Boldt K, Ueffing M, Moulin AP, Cremers FPM, et al.

Am J Hum Genet. 2016 Sep 1;99(3):770-776. doi: 10.1016/j.ajhg.2016.07.009.

PubMed [citation]

PMID:: 27588451
PMCID:: PMC5011074

Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.

Namburi P, Ratnapriya R, Khateb S, Lazar CH, Kinarty Y, Obolensky A, Erdinest I, Marks-Ohana D, Pras E, Ben-Yosef T, Newman H, Gross M, Swaroop A, Banin E, Sharon D.

Am J Hum Genet. 2016 Sep 1;99(3):777-784. doi: 10.1016/j.ajhg.2016.07.010. Erratum in: Am J Hum Genet. 2016 Nov 3;99(5):1222-1223. doi: 10.1016/j.ajhg.2016.09.012.

PubMed [citation]

PMID:: 27588452
PMCID:: PMC5011076

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004299186.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CEP78-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro431Glnfs*6) in the CEP78 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP78 are known to be pathogenic (PMID: 27588451, 27588452, 27627988).

#	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: Sep 29, 2024

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