NM_014249.4(NR2E3):c.226C>T (p.Arg76Trp) AND Enhanced S-cone syndrome

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Mar 25, 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:: RCV000005866.7

Allele description [Variation Report for NM_014249.4(NR2E3):c.226C>T (p.Arg76Trp)]

NM_014249.4(NR2E3):c.226C>T (p.Arg76Trp)

Gene:

NR2E3:nuclear receptor subfamily 2 group E member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q23

Genomic location:

Preferred name:

NM_014249.4(NR2E3):c.226C>T (p.Arg76Trp)

HGVS:

NC_000015.10:g.71811590C>T
NG_009113.2:g.6036C>T
NM_014249.4:c.226C>TMANE SELECT
NM_016346.4:c.226C>T
NP_055064.1:p.Arg76Trp
NP_057430.1:p.Arg76Trp
NC_000015.9:g.72103930C>T
NM_014249.2:c.226C>T
NM_014249.3:c.226C>T
Q9Y5X4:p.Arg76Trp

Protein change:

R76W; ARG76TRP

Links:

UniProtKB: Q9Y5X4#VAR_009267; OMIM: 604485.0002; dbSNP: rs104894492

NCBI 1000 Genomes Browser:

rs104894492

Molecular consequence:

NM_014249.4:c.226C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_016346.4:c.226C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026048	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 2000)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV004191612	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 25, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000026048

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 2000)

germline

literature only

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

SCV004191612

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 25, 2024)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From OMIM, SCV000026048.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 2 patients with enhanced S-cone syndrome (ESCS; 268100), Haider et al. (2000) identified a C-to-T transition in the NR2E3 gene, resulting in an arg76-to-trp substitution.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Baylor Genetics, SCV004191612.2

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 17, 2024

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