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NM_014249.4(NR2E3):c.200_208del (p.Cys67_Gly69del) AND Enhanced S-cone syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 2000
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:
RCV000005868.4

Allele description [Variation Report for NM_014249.4(NR2E3):c.200_208del (p.Cys67_Gly69del)]

NM_014249.4(NR2E3):c.200_208del (p.Cys67_Gly69del)

Gene:
NR2E3:nuclear receptor subfamily 2 group E member 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q23
Genomic location:
Preferred name:
NM_014249.4(NR2E3):c.200_208del (p.Cys67_Gly69del)
HGVS:
  • NC_000015.10:g.71811564_71811572del
  • NG_009113.2:g.6010_6018del
  • NM_014249.4:c.200_208delMANE SELECT
  • NM_016346.4:c.200_208del
  • NP_055064.1:p.Cys67_Gly69del
  • NP_057430.1:p.Cys67_Gly69del
  • NC_000015.9:g.72103904_72103912del
  • NM_014249.3:c.200_208delGCAGCGGCT
Note:
ClinGen staff contributed the HGVS expression for this variant.
Links:
OMIM: 604485.0004; dbSNP: rs1567159701
NCBI 1000 Genomes Browser:
rs1567159701
Molecular consequence:
  • NM_014249.4:c.200_208del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_016346.4:c.200_208del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Enhanced S-cone syndrome (ESCS)
Identifiers:
MONDO: MONDO:0100288; MedGen: C1849394; Orphanet: 53540; OMIM: 268100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000026050OMIM
no assertion criteria provided
Pathogenic
(Feb 1, 2000) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, Wright AF, Stone EM, Sheffield VC.

Nat Genet. 2000 Feb;24(2):127-31.

PubMed [citation]
PMID:
10655056

Details of each submission

From OMIM, SCV000026050.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with enhanced S-cone syndrome (ESCS; 268100), Haider et al. (2000) identified deletion of 9 bp of the NR2E3 gene, resulting in a 3-amino acid deletion (codons 67-69) in the NR2E3 protein.

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

Last Updated: Apr 23, 2022