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

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 17, 2019
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:
RCV001074908.2

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:
Retinal dystrophy
Synonyms:
Inherited retinal dystrophy
Identifiers:
MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001240513Blueprint Genetics
criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)		Likely pathogenic
(Aug 17, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001240513.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024