NM_005045.4(RELN):c.2288A>G (p.Asp763Gly) AND Familial temporal lobe epilepsy 7

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jun 4, 2015
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000180787.4

Allele description [Variation Report for NM_005045.4(RELN):c.2288A>G (p.Asp763Gly)]

NM_005045.4(RELN):c.2288A>G (p.Asp763Gly)

Gene:

RELN:reelin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q22.1

Genomic location:

Preferred name:

NM_005045.4(RELN):c.2288A>G (p.Asp763Gly)

HGVS:

NC_000007.14:g.103636250T>C
NG_011877.2:g.358267A>G
NM_005045.4:c.2288A>GMANE SELECT
NM_173054.3:c.2288A>G
NP_005036.2:p.Asp763Gly
NP_774959.1:p.Asp763Gly
NC_000007.13:g.103276697T>C
NM_005045.3:c.2288A>G
P78509:p.Asp763Gly

Protein change:

D763G; Asp763Gly

Links:

UniProtKB: P78509#VAR_073864; OMIM: 600514.0005; dbSNP: rs794727998

NCBI 1000 Genomes Browser:

rs794727998

Molecular consequence:

NM_005045.4:c.2288A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_173054.3:c.2288A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Familial temporal lobe epilepsy 7
Identifiers:: MONDO: MONDO:0014639; MedGen: C4225327; Orphanet: 101046; OMIM: 616436

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000233275	OMIM	no assertion criteria provided	Pathogenic (Jun 4, 2015)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000245378	GeneReviews	no classification provided	not provided	germline	literature only

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000233275

OMIM

no assertion criteria provided

Pathogenic
(Jun 4, 2015)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

SCV000245378

GeneReviews

no classification provided

not provided

germline

literature only

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.

Dazzo E, Fanciulli M, Serioli E, Minervini G, Pulitano P, Binelli S, Di Bonaventura C, Luisi C, Pasini E, Striano S, Striano P, Coppola G, Chiavegato A, Radovic S, Spadotto A, Uzzau S, La Neve A, Giallonardo AT, Mecarelli O, Tosatto SC, Ottman R, Michelucci R, et al.

Am J Hum Genet. 2015 Jun 4;96(6):992-1000. doi: 10.1016/j.ajhg.2015.04.020.

PubMed [citation]

PMID:: 26046367
PMCID:: PMC4457960

Details of each submission

From OMIM, SCV000233275.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 2 members of a family (FIA) with familial temporal lobe epilepsy-7 (ETL7; 616436), Dazzo et al. (2015) identified a heterozygous c.2288A-G transition (c.2288A-G, NM_005045.3) in the RELN gene, resulting in an asp763-to-gly (D763G) substitution at a highly conserved residue in repeat 1. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the 1000 Genomes Project or Exome Variant Server databases, or in 270 controls. A 3-dimensional structural model predicted that the mutation would perturb the horseshoe-like arrangement of repeat 1.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GeneReviews, SCV000245378.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2022

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