NM_014249.4(NR2E3):c.166G>C (p.Gly56Arg) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 30, 2020
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:: RCV001390124.6

Allele description [Variation Report for NM_014249.4(NR2E3):c.166G>C (p.Gly56Arg)]

NM_014249.4(NR2E3):c.166G>C (p.Gly56Arg)

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.166G>C (p.Gly56Arg)

HGVS:

NC_000015.10:g.71811530G>C
NG_009113.2:g.5976G>C
NM_014249.4:c.166G>CMANE SELECT
NM_016346.4:c.166G>C
NP_055064.1:p.Gly56Arg
NP_057430.1:p.Gly56Arg
NC_000015.9:g.72103870G>C

Protein change:

G56R

Links:

dbSNP: rs121912631

NCBI 1000 Genomes Browser:

rs121912631

Molecular consequence:

NM_014249.4:c.166G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_016346.4:c.166G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001591752	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 30, 2020)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 24938718, 17564971, 26910043, 19823680, 19006237, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001591752

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 30, 2020)

germline

clinical testing

PubMed (6)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.

Xu Y, Guan L, Shen T, Zhang J, Xiao X, Jiang H, Li S, Yang J, Jia X, Yin Y, Guo X, Wang J, Zhang Q.

Hum Genet. 2014 Oct;133(10):1255-71. doi: 10.1007/s00439-014-1460-2. Epub 2014 Jun 18.

PubMed [citation]

PMID:: 24938718

Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa.

Coppieters F, Leroy BP, Beysen D, Hellemans J, De Bosscher K, Haegeman G, Robberecht K, Wuyts W, Coucke PJ, De Baere E.

Am J Hum Genet. 2007 Jul;81(1):147-57. Epub 2007 May 24.

PubMed [citation]

PMID:: 17564971
PMCID:: PMC1950922

See all PubMed Citations (6)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001591752.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

This missense change has been observed in individual(s) with autosomal dominant retinitis pigmentosa (PMID: 24938718, 17564971, 26910043, 19006237). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. This variant has been reported to affect NR2E3 protein function (PMID: 19823680, 19006237). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 56 of the NR2E3 protein (p.Gly56Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.

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

Last Updated: Sep 29, 2024

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