VCV000014353.1 - ClinVar

Multiple alleles

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.

Uncertain significance

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

Multiple alleles

Other names: ME2, HAPLOTYPE (rs674351, rs584087, rs585344, rs608781, rs642698, rs674210, rs645088, rs649224, rs654136)
Functional consequence: -
Links: OMIM: 154270.0001

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.
ME2		-	-	GRCh38 GRCh37	49	92

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.
not provided	Uncertain significance (1)	no assertion criteria provided	Oct 1, 2005	RCV004720230.1

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.
Uncertain significance (Oct 01, 2005)	no assertion criteria provided Method: literature only	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE Affected status: not provided Allele origin: germline	OMIM Accession: SCV000035692.3 First in ClinVar: Apr 04, 2013 Last updated: Mar 24, 2015	Publications: PubMed (2) PubMed: 16190936‚ 15532013 Comment on evidence: This variant, formerly titled EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, has been reclassified based on the findings of Lenzen et al. (2005). Greenberg et al. (2005) … (more) This variant, formerly titled EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, has been reclassified based on the findings of Lenzen et al. (2005). Greenberg et al. (2005) reported the identification of a specific 9-SNP haplotype that, when present in homozygous state, increased the risk for adolescent-onset idiopathic generalized epilepsy (see IGE, 600669) 6-fold (odds ratio, 6.1; 95% CI, 2.9-12.7) compared with any other genotype examined. Their analysis, which used both case-control and family-based association methods, yielded strong evidence that the ME2 gene predisposes to IGE. The authors also observed association among subgroups of IGE syndromes. The susceptibility haplotype was defined by the SNPs rs674351, rs584087, rs585344, rs608781, rs642698, rs674210, rs645088, rs649224, and rs654136. Lenzen et al. (2005) analyzed allele and genotype frequencies of ME2 polymorphisms in 600 German IGE patients, of whom 416 had adolescent onset, and 666 German controls. Neither allele nor genotype frequencies of any ME2 polymorphism differed significantly between the controls and the entire IGE group (p greater than 0.22) or the adolescent-onset IGE group (p greater than 0.25). No hint of an association of the putative risk-conferring haplotype was seen, when present in homozygous state, in IGE patients compared with controls (p greater than 0.18). (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
Association analysis of malic enzyme 2 gene polymorphisms with idiopathic generalized epilepsy.	Lenzen KP	Epilepsia	2005	PMID: 16190936
Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy.	Greenberg DA	American journal of human genetics	2005	PMID: 15532013

Text-mined citations for this variant ...

Record last updated Nov 25, 2024

ClinVar Genomic variation as it relates to human health

Multiple alleles

Variant Details

Multiple alleles

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...