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NM_005045.4(RELN):c.26A>C (p.Gln9Pro)

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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:
Dec 18, 2017
Accession:
VCV000095217.1
Variation ID:
95217
Description:
single nucleotide variant
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NM_005045.4(RELN):c.26A>C (p.Gln9Pro)

Allele ID
101117
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.1
Genomic location
7: 103989331 (GRCh38) GRCh38 UCSC
7: 103629778 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.103629778T>G
NC_000007.14:g.103989331T>G
NM_005045.4:c.26A>C NP_005036.2:p.Gln9Pro missense
... more HGVS
Protein change
Q9P
Other names
p.Q9P:CAG>CCG
Functional consequence
-
Global minor allele frequency (GMAF)
0.02396 (G)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.02380
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.02074
1000 Genomes Project 0.02396
The Genome Aggregation Database (gnomAD) 0.02037
Links
dbSNP: rs115165703
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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 Mar 3, 2014 RCV000081229.10
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000264190.1
Benign 1 criteria provided, single submitter Dec 18, 2017 RCV000549962.2
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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: SCV000310787.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jan 30, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000171354.10
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: SCV000465997.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Dec 18, 2017)
criteria provided, single submitter
Method: clinical testing
Epilepsy, familial temporal lobe, 7
Lissencephaly 2
Allele origin: germline
Invitae
Accession: SCV000656274.2
Submitted: (Apr 02, 2018)
Evidence details
Benign
(Mar 03, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000113137.8
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: SCV000152493.2
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