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NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly) AND CEP290-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 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:
RCV004732937.1

Allele description [Variation Report for NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)]

NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)

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.6392A>G (p.Glu2131Gly)
HGVS:
  • NC_000012.12:g.88060960T>C
  • NG_008417.2:g.86257A>G
  • NM_025114.4:c.6392A>GMANE SELECT
  • NP_079390.3:p.Glu2131Gly
  • NP_079390.3:p.Glu2131Gly
  • LRG_694t1:c.6392A>G
  • LRG_694:g.86257A>G
  • LRG_694p1:p.Glu2131Gly
  • NC_000012.11:g.88454737T>C
  • NG_008417.1:g.86257A>G
  • NM_025114.3:c.6392A>G
Protein change:
E2131G
Links:
dbSNP: rs184323010
NCBI 1000 Genomes Browser:
rs184323010
Molecular consequence:
  • NM_025114.4:c.6392A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005347149PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Sep 15, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005347149.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The CEP290 c.6392A>G variant is predicted to result in the amino acid substitution p.Glu2131Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.095% of alleles in individuals of African descent in gnomAD, which may be too common to be an undocumented pathogenic variant. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 7, 2025