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NM_014249.4(NR2E3):c.143_144delinsAGTGTGCCTCCAGTGCCTCGCTCCA (p.Arg48fs) AND Retinitis pigmentosa 37

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2012
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000162027.4

Allele description [Variation Report for NM_014249.4(NR2E3):c.143_144delinsAGTGTGCCTCCAGTGCCTCGCTCCA (p.Arg48fs)]

NM_014249.4(NR2E3):c.143_144delinsAGTGTGCCTCCAGTGCCTCGCTCCA (p.Arg48fs)

Gene:
NR2E3:nuclear receptor subfamily 2 group E member 3 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
15q23
Genomic location:
Preferred name:
NM_014249.4(NR2E3):c.143_144delinsAGTGTGCCTCCAGTGCCTCGCTCCA (p.Arg48fs)
HGVS:
  • NC_000015.10:g.71811507_71811508delinsAGTGTGCCTCCAGTGCCTCGCTCCA
  • NG_009113.2:g.5953_5954delinsAGTGTGCCTCCAGTGCCTCGCTCCA
  • NM_014249.4:c.143_144delinsAGTGTGCCTCCAGTGCCTCGCTCCAMANE SELECT
  • NM_016346.4:c.143_144delinsAGTGTGCCTCCAGTGCCTCGCTCCA
  • NP_055064.1:p.Arg48fs
  • NP_057430.1:p.Arg48fs
  • NC_000015.9:g.72103847_72103848delinsAGTGTGCCTCCAGTGCCTCGCTCCA
  • NM_014249.3:c.143_144delGCinsAGTGTGCCTCCAGTGCCTCGCTCCA
Note:
NCBI staff reviewed the sequence information reported in PubMed 22605927 Fig. 2B to determine the location of this allele on the current reference sequence.
Protein change:
R48fs
Links:
OMIM: 604485.0008; dbSNP: rs730882149
NCBI 1000 Genomes Browser:
rs730882149
Molecular consequence:
  • NM_014249.4:c.143_144delinsAGTGTGCCTCCAGTGCCTCGCTCCA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_016346.4:c.143_144delinsAGTGTGCCTCCAGTGCCTCGCTCCA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000211954OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2012) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa.

Kannabiran C, Singh H, Sahini N, Jalali S, Mohan G.

Mol Vis. 2012;18:1165-74. Epub 2012 May 4.

PubMed [citation]
PMID:
22605927
PMCID:
PMC3351411

Details of each submission

From OMIM, SCV000211954.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a brother and sister from a consanguineous southern Indian family with retinitis pigmentosa mapping to chromosome 15 (RP37; 611131), Kannabiran et al. (2012) identified homozygosity for a 2-bp deletion and 25-bp insertion at codon 48 in exon 2 of the NR2E3 gene (c.143_144delGCins25), causing a frameshift predicted to result in a premature termination codon after 65 amino acids. The unaffected parents were heterozygous for the mutation, which was not found in 100 controls.

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

Last Updated: Jun 23, 2024