VCV000236371.1 - ClinVar

Single allele

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.

Pathogenic

criteria provided, single submitter

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

Single allele

Variation ID: 236371 Accession: VCV000236371.1

Type and length

Duplication, 5,902,313 bp

Location

Cytogenetic: 15q11.1-12 15: 20306549-26208861 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Jun 24, 2016	Jun 24, 2016	Oct 12, 2015

HGVS

Nucleotide	Protein	Molecular consequence
NC_000015.9:g.20306549_26208861dup

Protein change

Other names

Canonical SPDI

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

VarSome

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.
UBE3A		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	40	1230
MAGEL2		Little evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh38 GRCh37	1039	1342
SNURF	-	Little evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	-	370
ATP10A		No evidence available	No evidence available	GRCh38 GRCh37	197	504
MKRN3		No evidence available	No evidence available	GRCh38 GRCh38 GRCh37	71	374
NDN		No evidence available	No evidence available	GRCh38 GRCh38 GRCh37	41	343
NIPA1		No evidence available	No evidence available	GRCh38 GRCh38 GRCh37	272	682
NIPA2		No evidence available	No evidence available	GRCh38 GRCh38 GRCh37	56	390
SNRPN		No evidence available	No evidence available	GRCh38 GRCh37	3	399
CYFIP1		-	-	GRCh38 GRCh38 GRCh38 GRCh37	112	453

There are 19 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.

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.
Autism spectrum disorder	Pathogenic (1)	criteria provided, single submitter	Oct 12, 2015	RCV000225663.1

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.
Pathogenic (Oct 12, 2015)	criteria provided, single submitter (ACMG CNV Guidelines 2011) Method: research	Autism spectrum disorder Affected status: yes Allele origin: maternal	Geschwind lab, University of California Los Angeles Accession: SCV000282160.1 First in ClinVar: Jun 24, 2016 Last updated: Jun 24, 2016	Publications: PubMed (4) PubMed: 27569545‚ 23044707‚ 21844811‚ 23495136 Number of individuals with the variant: 1

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
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.	Leppa VM	American journal of human genetics	2016	PMID: 27569545
The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature.	Urraca N	Autism research : official journal of the International Society for Autism Research	2013	PMID: 23495136
Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.	Moreno-De-Luca D	Molecular psychiatry	2013	PMID: 23044707
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.	Kaminsky EB	Genetics in medicine : official journal of the American College of Medical Genetics	2011	PMID: 21844811

Text-mined citations for this variant ...

Record last updated May 07, 2023

ClinVar Genomic variation as it relates to human health

Single allele

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...