VCV000219026.4 - ClinVar

GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3

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 8p21.3-12(chr8:20478546-28986438)x3

Variation ID: 219026 Accession: VCV000219026.4

Type and length

copy number gain, -

Location

Cytogenetic: 8p21.3-12 8: 20478546-28986438 (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	Jan 15, 2016	Sep 30, 2023	Jul 13, 2015

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.
CHMP7		No evidence available	No evidence available	GRCh38 GRCh37	18	106
NEFL		No evidence available	No evidence available	GRCh38 GRCh37	575	712
ADAM28		-	-	GRCh38 GRCh37	-	140
ADAM7		-	-	GRCh38 GRCh37	-	146
ADAMDEC1		-	-	GRCh38 GRCh37	-	125
ADRA1A		-	-	GRCh38 GRCh37	37	117
BIN3		-	-	GRCh38 GRCh37	27	122
BMP1		-	-	GRCh38 GRCh37	722	1013
BNIP3L		-	-	GRCh38 GRCh37	6	89
C8orf58	-	-	-	GRCh38 GRCh37	8	94

There are 65 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	Jul 13, 2015	RCV000203434.3

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 (Jul 13, 2015)	criteria provided, single submitter (UW Cytogenetics and Genomics Laboratory Policy on CNV Interpretation (5/6/2015)) Method: clinical testing	See Cases Affected status: yes Allele origin: unknown	Cytogenetics Laboratory, University of Washington Accession: SCV000258565.3 First in ClinVar: Jan 15, 2016 Last updated: Sep 30, 2023	Publications: PubMed (5) PubMed: 19204725‚ 11038444‚ 11745996‚ 18696223‚ 21700882 Number of individuals with the variant: 1 Clinical Features: Learning disability (present) Indication for testing: Learning disability 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
Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.	Tornberg J	Proceedings of the National Academy of Sciences of the United States of America	2011	PMID: 21700882
Chromosome 8p as a potential hub for developmental neuropsychiatric disorders: implications for schizophrenia, autism and cancer.	Tabarés-Seisdedos R	Molecular psychiatry	2009	PMID: 19204725
A novel 6.14 Mb duplication of chromosome 8p21 in a patient with autism and self mutilation.	Ozgen HM	Journal of autism and developmental disorders	2009	PMID: 18696223
Direct duplication of 8p21.3-->p23.1: a cytogenetic anomaly associated with developmental delay without consistent clinical features.	Fan YS	American journal of medical genetics	2001	PMID: 11745996
Familial dup(8)(p12p21.1): mild phenotypic effect and review of partial 8p duplications.	Moog U	American journal of medical genetics	2000	PMID: 11038444

Text-mined citations for this variant ...

Record last updated Sep 30, 2023

ClinVar Genomic variation as it relates to human health

GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...