NM_016122.3(CEP83):c.1280A>G (p.Glu427Gly) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 13, 2024
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:: RCV004032581.1

Allele description [Variation Report for NM_016122.3(CEP83):c.1280A>G (p.Glu427Gly)]

NM_016122.3(CEP83):c.1280A>G (p.Glu427Gly)

Gene:

CEP83:centrosomal protein 83 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q22

Genomic location:

Preferred name:

NM_016122.3(CEP83):c.1280A>G (p.Glu427Gly)

HGVS:

NC_000012.12:g.94367857T>C
NG_051825.1:g.97132A>G
NM_001042399.2:c.1280A>G
NM_001346457.2:c.1280A>G
NM_001346458.2:c.968A>G
NM_001346459.2:c.968A>G
NM_001368037.1:c.1280A>G
NM_001368038.1:c.1280A>G
NM_001368039.1:c.968A>G
NM_001368040.1:c.968A>G
NM_001368041.1:c.1055A>G
NM_016122.3:c.1280A>GMANE SELECT
NP_001035858.1:p.Glu427Gly
NP_001333386.1:p.Glu427Gly
NP_001333387.1:p.Glu323Gly
NP_001333388.1:p.Glu323Gly
NP_001354966.1:p.Glu427Gly
NP_001354967.1:p.Glu427Gly
NP_001354968.1:p.Glu323Gly
NP_001354969.1:p.Glu323Gly
NP_001354970.1:p.Glu352Gly
NP_057206.2:p.Glu427Gly
NC_000012.11:g.94761633T>C
NM_016122.2:c.1280A>G
NR_160432.1:n.2033A>G

Protein change:

E323G

Links:

dbSNP: rs199501110

NCBI 1000 Genomes Browser:

rs199501110

Molecular consequence:

NM_001042399.2:c.1280A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001346457.2:c.1280A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001346458.2:c.968A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001346459.2:c.968A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001368037.1:c.1280A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001368038.1:c.1280A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001368039.1:c.968A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001368040.1:c.968A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001368041.1:c.1055A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_016122.3:c.1280A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_160432.1:n.2033A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004925958	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 13, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004925958

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 13, 2024)

germline

clinical testing

Citation Link

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 Ambry Genetics, SCV004925958.1

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

Description

The c.1280A>G (p.E427G) alteration is located in exon 11 (coding exon 9) of the CEP83 gene. This alteration results from a A to G substitution at nucleotide position 1280, causing the glutamic acid (E) at amino acid position 427 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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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