NM_005045.4(RELN):c.5225G>A (p.Arg1742Gln) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 5, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV002526724.2

Allele description [Variation Report for NM_005045.4(RELN):c.5225G>A (p.Arg1742Gln)]

NM_005045.4(RELN):c.5225G>A (p.Arg1742Gln)

Gene:

RELN:reelin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q22.1

Genomic location:

Preferred name:

NM_005045.4(RELN):c.5225G>A (p.Arg1742Gln)

HGVS:

NC_000007.14:g.103561939C>T
NG_011877.2:g.432578G>A
NM_005045.4:c.5225G>AMANE SELECT
NM_173054.3:c.5225G>A
NP_005036.2:p.Arg1742Gln
NP_774959.1:p.Arg1742Gln
NC_000007.13:g.103202386C>T
NM_005045.3:c.5225G>A

Protein change:

R1742Q

Links:

dbSNP: rs199553777

NCBI 1000 Genomes Browser:

rs199553777

Molecular consequence:

NM_005045.4:c.5225G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_173054.3:c.5225G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003559222	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 5, 2021)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 14515139, 28419454 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003559222

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 5, 2021)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Analysis of reelin as a candidate gene for autism.

Bonora E, Beyer KS, Lamb JA, Parr JR, Klauck SM, Benner A, Paolucci M, Abbott A, Ragoussis I, Poustka A, Bailey AJ, Monaco AP; International Molecular Genetic Study of Autism (IMGSAC)..

Mol Psychiatry. 2003 Oct;8(10):885-92.

PubMed [citation]

PMID:: 14515139

The de novo autism spectrum disorder RELN R2290C mutation reduces Reelin secretion and increases protein disulfide isomerase expression.

Lammert DB, Middleton FA, Pan J, Olson EC, Howell BW.

J Neurochem. 2017 Jul;142(1):89-102. doi: 10.1111/jnc.14045. Epub 2017 May 18.

PubMed [citation]

PMID:: 28419454
PMCID:: PMC6091860

Details of each submission

From Ambry Genetics, SCV003559222.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

Unlikely to be causative of RELN-related lateral temporal epilepsy (AD) based on population frequency in gnomAD. However, the clinical significance for RELN-related lissencephaly (AR) remains unclear (Bonora, 2003; Lammert, 2017). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 8, 2024

ClinVar

Relating variation to medicine