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NM_014249.4(NR2E3):c.245+8C>T AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 1, 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:
RCV000673028.1

Allele description [Variation Report for NM_014249.4(NR2E3):c.245+8C>T]

NM_014249.4(NR2E3):c.245+8C>T

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.245+8C>T
HGVS:
  • NC_000015.10:g.71811617C>T
  • NG_009113.2:g.6063C>T
  • NM_014249.4:c.245+8C>TMANE SELECT
  • NM_016346.4:c.245+8C>T
  • NC_000015.9:g.72103957C>T
  • NM_014249.2:c.245+8C>T
  • NM_014249.3:c.245+8C>T
Links:
dbSNP: rs9920371
NCBI 1000 Genomes Browser:
rs9920371
Molecular consequence:
  • NM_014249.4:c.245+8C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_016346.4:c.245+8C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Enhanced S-cone syndrome (ESCS)
Identifiers:
MONDO: MONDO:0100288; MedGen: C1849394; Orphanet: 53540; OMIM: 268100
Name:
Retinitis pigmentosa 37 (RP37)
Identifiers:
MONDO: MONDO:0012625; MedGen: C1970163; Orphanet: 791; OMIM: 611131

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000798193Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely benign
(Mar 1, 2018) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Counsyl, SCV000798193.1

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

Last Updated: Sep 29, 2024