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NM_014249.4(NR2E3):c.301C>T (p.Gln101Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 19, 2018
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:
RCV000819161.5

Allele description [Variation Report for NM_014249.4(NR2E3):c.301C>T (p.Gln101Ter)]

NM_014249.4(NR2E3):c.301C>T (p.Gln101Ter)

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.301C>T (p.Gln101Ter)
HGVS:
  • NC_000015.10:g.71811821C>T
  • NG_009113.2:g.6267C>T
  • NM_014249.4:c.301C>TMANE SELECT
  • NM_016346.4:c.301C>T
  • NP_055064.1:p.Gln101Ter
  • NP_057430.1:p.Gln101Ter
  • NC_000015.9:g.72104161C>T
  • NM_014249.3:c.301C>T
Protein change:
Q101*
Links:
dbSNP: rs1595956148
NCBI 1000 Genomes Browser:
rs1595956148
Molecular consequence:
  • NM_014249.4:c.301C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_016346.4:c.301C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000959807Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Nov 19, 2018) 		germlineclinical testing

PubMed (5)
[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

Enhanced S-cone syndrome in a Japanese family with a nonsense NR2E3 mutation (Q350X).

Nakamura Y, Hayashi T, Kozaki K, Kubo A, Omoto S, Watanabe A, Toda K, Takeuchi T, Gekka T, Kitahara K.

Acta Ophthalmol Scand. 2004 Oct;82(5):616-22.

PubMed [citation]
PMID:
15453866

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
See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000959807.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in NR2E3 are known to be pathogenic (PMID: 15453866, 15459973, 21217109, 23039133). This variant has not been reported in the literature in individuals with NR2E3-related disease. This sequence change creates a premature translational stop signal (p.Gln101*) in the NR2E3 gene. It is expected to result in an absent or disrupted protein product.

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

Last Updated: Sep 29, 2024