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NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp) AND Abnormality of the eye

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 1, 2015
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:
RCV000504667.1

Allele description [Variation Report for NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp)]

NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp)

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.305C>A (p.Ala102Asp)
HGVS:
  • NC_000015.10:g.71811825C>A
  • NG_009113.2:g.6271C>A
  • NM_014249.4:c.305C>AMANE SELECT
  • NM_016346.4:c.305C>A
  • NP_055064.1:p.Ala102Asp
  • NP_057430.1:p.Ala102Asp
  • NC_000015.9:g.72104165C>A
  • NM_014249.3:c.305C>A
  • NM_016346.3:c.305C>A
Protein change:
A102D
Links:
dbSNP: rs772881093
NCBI 1000 Genomes Browser:
rs772881093
Molecular consequence:
  • NM_014249.4:c.305C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016346.4:c.305C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Abnormality of the eye
Synonyms:
Globe disease
Identifiers:
MONDO: MONDO:0005328; MedGen: C4316870; Human Phenotype Ontology: HP:0000478

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000599198NIHR Bioresource Rare Diseases, University of Cambridge
no assertion criteria provided
Likely pathogenic
(Jan 1, 2015) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Europeanunknownyes1not providednot provided1not providedresearch

Citations

PubMed

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, et al.

Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.

PubMed [citation]
PMID:
28041643
PMCID:
PMC5223092

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV000599198.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1European1not providednot providedresearch PubMed (1)

Description

Undetermined rare ocular disorder with frequency of less than eight patients

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024