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NM_005045.4(RELN):c.9340A>G (p.Ile3114Val)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Sep 19, 2018)
Last evaluated:
Dec 20, 2017
Accession:
VCV000095236.1
Variation ID:
95236
Description:
single nucleotide variant
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NM_005045.4(RELN):c.9340A>G (p.Ile3114Val)

Allele ID
101136
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.1
Genomic location
7: 103495752 (GRCh38) GRCh38 UCSC
7: 103136199 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.103136199T>C
NC_000007.14:g.103495752T>C
NM_005045.4:c.9340A>G NP_005036.2:p.Ile3114Val missense
... more HGVS
Protein change
I3114V
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00022
The Genome Aggregation Database (gnomAD) 0.00016
The Genome Aggregation Database (gnomAD), exomes 0.00046
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00054
Exome Aggregation Consortium (ExAC) 0.00039
Links
dbSNP: rs149613347
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Mar 1, 2017 RCV000081248.4
Uncertain significance 1 criteria provided, single submitter Dec 20, 2017 RCV000652991.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LOC101927870 - - - GRCh38 - 165
RELN - - GRCh38
GRCh37
532 707

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 20, 2017)
criteria provided, single submitter
Method: clinical testing
Epilepsy, familial temporal lobe, 7
Lissencephaly 2
Allele origin: germline
Invitae
Accession: SCV000774865.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change replaces isoleucine with valine at codon 3114 of the RELN protein (p.Ile3114Val). The isoleucine residue is moderately conserved and there is a ... (more)
Likely benign
(Mar 01, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000113156.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...

Citations for this variant

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

Record last updated Aug 30, 2019