VCV000929369.1 - ClinVar

GRCh37/hg19 17q11.2(chr17:29393104-30427403)x1

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 17q11.2(chr17:29393104-30427403)x1

Variation ID: 929369 Accession: VCV000929369.1

Type and length

copy number loss, 1,034,300 bp

Location

Cytogenetic: 17q11.2 17: 29393104-30427403 (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 26, 2020	Jun 26, 2020	Jun 12, 2019

HGVS

Nucleotide	Protein	Molecular consequence
NC_000017.10:g.(?_29393104)_(30427403_?)del

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.
NF1		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh38 GRCh37	14106	14543
SUZ12		No evidence available	No evidence available	GRCh38 GRCh37	129	178
COPRS	-	-	-	GRCh38 GRCh37	7	62
EVI2A		-	-	GRCh38 GRCh38 GRCh37	-	149
EVI2B		-	-	GRCh38 GRCh38 GRCh37	-	167
LRRC37B		-	-	GRCh38 GRCh37	70	108
MIR193A		-	-	GRCh38 GRCh37	1	50
OMG		-	-	GRCh38 GRCh38 GRCh37	-	155
RAB11FIP4		-	-	GRCh38 GRCh38 GRCh37	35	86
UTP6	-	-	-	GRCh38 GRCh37	45	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.
See cases	Pathogenic (1)	criteria provided, single submitter	Jun 12, 2019	RCV001194568.1

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 (Jun 12, 2019)	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: SCV001364211.1 First in ClinVar: Jun 26, 2020 Last updated: Jun 26, 2020	Publications: PubMed (5) PubMed: 20506354‚ 28213670‚ 21280148‚ 20513137‚ 22045503 Other databases https://omim.org/entry/613675 https://omim.org/entry/613675 Number of individuals with the variant: 1 Clinical Features: Intellectual disability (present) , Velopharyngeal insufficiency (present) , Neurofibromatosis type 1 (present) Age: 20-29 years Sex: female 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
Emerging genotype-phenotype relationships in patients with large NF1 deletions.	Kehrer-Sawatzki H	Human genetics	2017	PMID: 28213670
Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions.	Zickler AM	Human mutation	2012	PMID: 22045503
Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1).	Messiaen L	Human mutation	2011	PMID: 21280148
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.	Pasmant E	Human mutation	2010	PMID: 20513137
A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.	Bengesser K	Human mutation	2010	PMID: 20506354
https://omim.org/entry/613675	-	-	-	-

Text-mined citations for this variant ...

Record last updated Apr 25, 2022

ClinVar Genomic variation as it relates to human health

GRCh37/hg19 17q11.2(chr17:29393104-30427403)x1

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...