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NM_005045.4(RELN):c.6303-290A>T AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 2, 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:
RCV001553208.2

Allele description [Variation Report for NM_005045.4(RELN):c.6303-290A>T]

NM_005045.4(RELN):c.6303-290A>T

Gene:
RELN:reelin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q22.1
Genomic location:
Preferred name:
NM_005045.4(RELN):c.6303-290A>T
HGVS:
  • NC_000007.14:g.103545634T>A
  • NG_011877.2:g.448883A>T
  • NM_005045.4:c.6303-290A>TMANE SELECT
  • NM_173054.3:c.6303-290A>T
  • NC_000007.13:g.103186081T>A
Links:
dbSNP: rs6976364
NCBI 1000 Genomes Browser:
rs6976364
Molecular consequence:
  • NM_005045.4:c.6303-290A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_173054.3:c.6303-290A>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001774033GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely benign
(Oct 2, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV001774033.1

#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: Dec 24, 2023