VCV000402122.1 - ClinVar

GRCh37/hg19 15q11.1-13.2(chr15:20071673-30737344)x4

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

GRCh37/hg19 15q11.1-13.2(chr15:20071673-30737344)x4

Variation ID: 402122 Accession: VCV000402122.1

Type and length

copy number gain, -

Location

Cytogenetic: 15q11.1-13.2 15: 20071673-30737344 (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	Apr 3, 2017	Apr 3, 2017	Oct 25, 2016

HGVS

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
GABRB3		No evidence available	No evidence available	GRCh38 GRCh37	645	959
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

There are 31 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.
See cases	Pathogenic (1)	criteria provided, single submitter	Oct 25, 2016	RCV000454142.1

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 25, 2016)	criteria provided, single submitter (Clinical Cytogenomics Laboratory Policy on CNV Interpretation) Method: clinical testing	See Cases Affected status: yes Allele origin: unknown	Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington Accession: SCV000537897.1 First in ClinVar: Apr 03, 2017 Last updated: Apr 03, 2017	Publications: PubMed (6) PubMed: 18177502‚ 19019226‚ 9550359‚ 14560400‚ 24239951‚ 17850637 Number of individuals with the variant: 1 Clinical Features: Autism (present) , Intellectual disability (present) , Seizures (present) Age: 30-39 years Sex: male Tissue: Peripheral blood

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
Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases.	Al Ageeli E	European journal of medical genetics	2014	PMID: 24239951
The inv dup (15) or idic (15) syndrome (Tetrasomy 15q).	Battaglia A	Orphanet journal of rare diseases	2008	PMID: 19019226
Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15.	Wang NJ	BMC genetics	2008	PMID: 18177502
Mosaic paternally derived inv dup(15) may partially rescue the Prader-Willi syndrome phenotype with uniparental disomy.	Saitoh S	Clinical genetics	2007	PMID: 17850637
Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity.	Roberts SE	American journal of human genetics	2003	PMID: 14560400
A clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup (15) marker chromosomes.	Webb T	Clinical genetics	1998	PMID: 9550359

Text-mined citations for this variant ...

Record last updated Mar 26, 2023

ClinVar Genomic variation as it relates to human health

GRCh37/hg19 15q11.1-13.2(chr15:20071673-30737344)x4

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...