NM_025114.4(CEP290):c.5665G>C (p.Glu1889Gln) AND CEP290-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 11, 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:: RCV004538159.2

Allele description [Variation Report for NM_025114.4(CEP290):c.5665G>C (p.Glu1889Gln)]

NM_025114.4(CEP290):c.5665G>C (p.Glu1889Gln)

Gene:

CEP290:centrosomal protein 290 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q21.32

Genomic location:

Preferred name:

NM_025114.4(CEP290):c.5665G>C (p.Glu1889Gln)

HGVS:

NC_000012.12:g.88077266C>G
NG_008417.2:g.69951G>C
NM_025114.4:c.5665G>CMANE SELECT
NP_079390.3:p.Glu1889Gln
NP_079390.3:p.Glu1889Gln
LRG_694t1:c.5665G>C
LRG_694:g.69951G>C
LRG_694p1:p.Glu1889Gln
NC_000012.11:g.88471043C>G
NG_008417.1:g.69951G>C
NM_025114.3:c.5665G>C

Protein change:

E1889Q

Links:

dbSNP: rs186330724

NCBI 1000 Genomes Browser:

rs186330724

Molecular consequence:

NM_025114.4:c.5665G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: CEP290-related disorder
Synonyms:: CEP290-Related Disorders; CEP290-related condition
Identifiers:: MedGen: CN239314

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004117400	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Uncertain significance (Jul 11, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004117400

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Uncertain significance
(Jul 11, 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, SCV004117400.2

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

Description

The CEP290 c.5665G>C variant is predicted to result in the amino acid substitution p.Glu1889Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.027% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#	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: Oct 26, 2024

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