VCV000005172.3 - ClinVar

NM_018662.3(DISC1):c.[67+5859A>T;791G>A]

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(1)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

risk factor

no assertion criteria provided

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

This haplotype includes the following variants

NM_018662.3(DISC1):c.[67+5859A>T;791G>A]

Other names: DISC1, HAPLOTYPE, HEP3
Functional consequence: -
Links: OMIM: 605210.0001

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
DISC1		No evidence available	No evidence available	GRCh38 GRCh37	10	175
TSNAX-DISC1	-	-	-	GRCh38	-	148

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Schizophrenia 9	risk factor (1)	no assertion criteria provided	Nov 13, 2007	RCV001844007.10

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
risk factor (Nov 13, 2007)	no assertion criteria provided Method: literature only	SCHIZOPHRENIA 9, SUSCEPTIBILITY TO Affected status: not provided Allele origin: germline	OMIM Accession: SCV000025661.4 First in ClinVar: Apr 04, 2013 Last updated: Oct 06, 2016	Publications: PubMed (4) PubMed: 14532331‚ 15386212‚ 16103888‚ 17984054 Comment on evidence: Hennah et al. (2003) identified a common haplotype, HEP3, that was undertransmitted in Finnish females with schizophrenia (SCZD9; 604906). The HEP3 haplotype contains 2 SNPS … (more) Hennah et al. (2003) identified a common haplotype, HEP3, that was undertransmitted in Finnish females with schizophrenia (SCZD9; 604906). The HEP3 haplotype contains 2 SNPS in the DISC1 gene (rs751229, rs3738401) that span 62 kb from intron 1 to exon 2. Hodgkinson et al. (2004) confirmed underrepresentation of the HEP3 haplotype in individuals with schizoaffective disorder. Hennah et al. (2005) tested whether identified allelic haplotypes of TRAX (602964)/DISC were associated with visual or verbal memory dysfunction known to aggregate with schizophrenia in families. The HEP3 haplotype of DISC1 displayed association with poorer performance on tests assessing short-term visual memory and attention. Analysis of affected and unaffected offspring separately revealed that both samples contributed to the observed association in visual working memory. The results provided genetic support for the view that the DISC1 gene contributes to sensitivity to schizophrenia and affects short-term visual memory functions. Among Finnish twin pairs discordant for the HEP3 haplotype, Li et al. (2007) found a significant association between presence of the haplotype and decreased sociability, suggesting that DISC1 has an effect on social behavior. (less)

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Specific developmental disruption of disrupted-in-schizophrenia-1 function results in schizophrenia-related phenotypes in mice.	Li W	Proceedings of the National Academy of Sciences of the United States of America	2007	PMID: 17984054
A haplotype within the DISC1 gene is associated with visual memory functions in families with a high density of schizophrenia.	Hennah W	Molecular psychiatry	2005	PMID: 16103888
Disrupted in schizophrenia 1 (DISC1): association with schizophrenia, schizoaffective disorder, and bipolar disorder.	Hodgkinson CA	American journal of human genetics	2004	PMID: 15386212
Haplotype transmission analysis provides evidence of association for DISC1 to schizophrenia and suggests sex-dependent effects.	Hennah W	Human molecular genetics	2003	PMID: 14532331

Text-mined citations for this variant ...

Record last updated Nov 25, 2024

ClinVar Genomic variation as it relates to human health

NM_018662.3(DISC1):c.[67+5859A>T;791G>A]

Variant Details

NM_018662.3(DISC1):c.[67+5859A>T;791G>A]

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...