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NM_014249.4(NR2E3):c.228del (p.Arg77fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 19, 2023
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:
RCV003738663.2

Allele description [Variation Report for NM_014249.4(NR2E3):c.228del (p.Arg77fs)]

NM_014249.4(NR2E3):c.228del (p.Arg77fs)

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.228del (p.Arg77fs)
HGVS:
  • NC_000015.10:g.71811592del
  • NG_009113.2:g.6038del
  • NM_014249.4:c.228delMANE SELECT
  • NM_016346.4:c.228del
  • NP_055064.1:p.Arg77fs
  • NP_057430.1:p.Arg77fs
  • NC_000015.9:g.72103931del
  • NC_000015.9:g.72103932del
Protein change:
R77fs
Molecular consequence:
  • NM_014249.4:c.228del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_016346.4:c.228del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004559059Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Dec 19, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.

Wright AF, Reddick AC, Schwartz SB, Ferguson JS, Aleman TS, Kellner U, Jurklies B, Schuster A, Zrenner E, Wissinger B, Lennon A, Shu X, Cideciyan AV, Stone EM, Jacobson SG, Swaroop A.

Hum Mutat. 2004 Nov;24(5):439.

PubMed [citation]
PMID:
15459973

New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome.

Kuniyoshi K, Hayashi T, Sakuramoto H, Mishima H, Tsuneoka H, Tsunoda K, Iwata T, Shimomura Y.

Jpn J Ophthalmol. 2016 Nov;60(6):476-485. Epub 2016 Aug 13.

PubMed [citation]
PMID:
27522502
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004559059.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Arg77Glyfs*29) in the NR2E3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NR2E3 are known to be pathogenic (PMID: 15459973, 27522502). This variant is present in population databases (rs772903026, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with NR2E3-related conditions. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024