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NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly) AND Leber congenital amaurosis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2020
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:
RCV001272013.1

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:
Leber congenital amaurosis (LCA)
Synonyms:
Congenital retinal blindness; Leber's amaurosis
Identifiers:
MONDO: MONDO:0018998; MeSH: D057130; MedGen: C0339527; OMIM: PS204000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001453641Natera, Inc.
no assertion criteria provided
Uncertain significance
(Jun 14, 2020) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001453641.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024