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NM_005045.4(RELN):c.7110T>C (p.Val2370=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 19, 2018)
Last evaluated:
Aug 1, 2017
Accession:
VCV000095228.1
Variation ID:
95228
Description:
single nucleotide variant
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NM_005045.4(RELN):c.7110T>C (p.Val2370=)

Allele ID
101128
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.1
Genomic location
7: 103539148 (GRCh38) GRCh38 UCSC
7: 103179595 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.103179595A>G
NC_000007.14:g.103539148A>G
NM_005045.4:c.7110T>C NP_005036.2:p.Val2370= synonymous
... more HGVS
Protein change
-
Other names
p.V2370V:GTT>GTC
Functional consequence
-
Global minor allele frequency (GMAF)
0.06210 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.03940
The Genome Aggregation Database (gnomAD), exomes 0.03820
Trans-Omics for Precision Medicine (TOPMed) 0.02930
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01907
1000 Genomes Project 0.06210
The Genome Aggregation Database (gnomAD) 0.02781
Links
dbSNP: rs362746
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 4 criteria provided, multiple submitters, no conflicts Dec 21, 2013 RCV000081240.10
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000355521.1
Benign 1 criteria provided, single submitter Aug 1, 2017 RCV000541488.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics
Accession: SCV000310796.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Dec 21, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000171350.10
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at ... (more)
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Lissencephaly, Recessive
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000465930.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Aug 01, 2017)
criteria provided, single submitter
Method: clinical testing
Epilepsy, familial temporal lobe, 7
Lissencephaly 2
Allele origin: germline
Invitae
Accession: SCV000656348.1
Submitted: (Oct 05, 2017)
Evidence details
Benign
(Sep 03, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000113148.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
AllHighlyPenetrant
(Autosomal recessive inheritance)
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000152516.2
Submitted: (Jun 27, 2014)
Evidence details
Comment:
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated ... (more)

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