NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu) AND Retinitis pigmentosa 37

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 8, 2021
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:: RCV001376214.1

Allele description [Variation Report for NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu)]

NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu)

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.767C>A (p.Ala256Glu)

HGVS:

NC_000015.10:g.71813408C>A
NG_009113.2:g.7854C>A
NM_014249.4:c.767C>AMANE SELECT
NM_016346.4:c.767C>A
NP_055064.1:p.Ala256Glu
NP_057430.1:p.Ala256Glu
NC_000015.9:g.72105748C>A
NM_014249.2:c.767C>A
NM_014249.3:c.767C>A
NM_016346.3:c.767C>A

Protein change:

A256E

Links:

dbSNP: rs377257254

NCBI 1000 Genomes Browser:

rs377257254

Molecular consequence:

NM_014249.4:c.767C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_016346.4:c.767C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinitis pigmentosa 37 (RP37)
Identifiers:: MONDO: MONDO:0012625; MedGen: C1970163; Orphanet: 791; OMIM: 611131

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001573279	Ocular Genomics Institute, Massachusetts Eye and Ear	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Apr 8, 2021)	germline	research	PubMed (7) [See all records that cite these PMIDs] 12963616, 19898638, 25079116, 25097241, 25703721, 29343940, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001573279

Ocular Genomics Institute, Massachusetts Eye and Ear

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Apr 8, 2021)

germline

research

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.

Sharon D, Sandberg MA, Caruso RC, Berson EL, Dryja TP.

Arch Ophthalmol. 2003 Sep;121(9):1316-23.

PubMed [citation]

PMID:: 12963616

A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.

Kanda A, Swaroop A.

Mol Vis. 2009 Oct 24;15:2174-84.

PubMed [citation]

PMID:: 19898638
PMCID:: PMC2773741

See all PubMed Citations (7)

Details of each submission

From Ocular Genomics Institute, Massachusetts Eye and Ear, SCV001573279.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (7)

Description

The NR2E3 c.767C>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PS3, PM2. Based on this evidence we have classified this variant as Likely Pathogenic.

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

Last Updated: Oct 8, 2024

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