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NM_005045.4(RELN):c.474-7T>C

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(2);Uncertain significance(4)

Review status:
criteria provided, conflicting interpretations
Submissions:
9 (Most recent: Sep 24, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000095221.15
Variation ID:
95221
Description:
single nucleotide variant
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NM_005045.4(RELN):c.474-7T>C

Allele ID
101121
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.1
Genomic location
7: 103776634 (GRCh38) GRCh38 UCSC
7: 103417081 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.14:g.103776634A>G
NG_011877.2:g.217883T>C
NM_173054.3:c.474-7T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:103776633:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00105
The Genome Aggregation Database (gnomAD) 0.00115
Trans-Omics for Precision Medicine (TOPMed) 0.00117
The Genome Aggregation Database (gnomAD), exomes 0.00123
Trans-Omics for Precision Medicine (TOPMed) 0.00109
Exome Aggregation Consortium (ExAC) 0.00125
1000 Genomes Project 0.00060
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00146
Links
ClinGen: CA208897
dbSNP: rs55693709
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV000370651.2
Likely benign 1 criteria provided, single submitter Dec 3, 2020 RCV001086262.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jul 16, 2020 RCV000194617.8
Conflicting interpretations of pathogenicity 5 criteria provided, conflicting interpretations Nov 18, 2020 RCV000723687.7
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
RELN - - GRCh38
GRCh37
1393 1810

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 18, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000248702.1
Submitted: (Sep 15, 2015)
Evidence details
Uncertain significance
(Oct 11, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000113141.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Norman-Roberts syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000465990.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
Epilepsy, familial temporal lobe, 7
Norman-Roberts syndrome
Allele origin: germline
Invitae
Accession: SCV000656304.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Nov 18, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000514388.4
Submitted: (Sep 24, 2021)
Evidence details
Benign
(Jul 16, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001474654.1
Submitted: (Dec 30, 2020)
Evidence details
Uncertain significance
(Nov 01, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001155215.7
Submitted: (Jul 04, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001926520.1
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001972246.1
Submitted: (Sep 21, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=RELN - - - -

Text-mined citations for rs55693709...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021