NM_017514.5(PLXNA3):c.1847G>A (p.Arg616Gln) AND Childhood-onset schizophrenia

Germline classification:: Benign (1 submission)
Last evaluated:: Jan 1, 2014
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:: RCV000202331.3

Allele description [Variation Report for NM_017514.5(PLXNA3):c.1847G>A (p.Arg616Gln)]

NM_017514.5(PLXNA3):c.1847G>A (p.Arg616Gln)

Gene:

PLXNA3:plexin A3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_017514.5(PLXNA3):c.1847G>A (p.Arg616Gln)

HGVS:

NC_000023.11:g.154464420G>A
NG_021298.2:g.11146G>A
NM_017514.4:c.1847G>A
NM_017514.5:c.1847G>AMANE SELECT
NP_059984.3:p.Arg616Gln
NC_000023.10:g.153692763G>A
NM_017514.3:c.1847G>A

Protein change:

R616Q

Links:

dbSNP: rs200042650

NCBI 1000 Genomes Browser:

rs200042650

Molecular consequence:

NM_017514.5:c.1847G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Childhood-onset schizophrenia
Synonyms:: Childhood schizophrenia
Identifiers:: MONDO: MONDO:0957430; MedGen: C0036346

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000223975	Dr. Guy Rouleau's laboratory, McGill University	criteria provided, single submitter (Submitter's publication)	Benign (Jan 1, 2014)	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000223975

Dr. Guy Rouleau's laboratory, McGill University

criteria provided, single submitter

(Submitter's publication)

Benign
(Jan 1, 2014)

de novo

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
hispanic	de novo	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

De novo variants in sporadic cases of childhood onset schizophrenia.

Ambalavanan A, Girard SL, Ahn K, Zhou S, Dionne-Laporte A, Spiegelman D, Bourassa CV, Gauthier J, Hamdan FF, Xiong L, Dion PA, Joober R, Rapoport J, Rouleau GA.

Eur J Hum Genet. 2016 Jun;24(6):944-8. doi: 10.1038/ejhg.2015.218. Epub 2015 Oct 28.

PubMed [citation]

PMID:: 26508570
PMCID:: PMC4867457

Details of each submission

From Dr. Guy Rouleau's laboratory, McGill University, SCV000223975.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	hispanic	1	not provided	not provided	research	PubMed (1)

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

Last Updated: May 19, 2024

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