VCV001220534.2 - ClinVar

GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)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

no assertion criteria provided

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3

Variation ID: 1220534 Accession: VCV001220534.2

Type and length

copy number gain, -

Location

Cytogenetic: 2p23.3-21 2: 24601818-43466284 (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	Sep 8, 2021	Sep 8, 2021	Feb 23, 2021

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.
SPAST		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	1329	1396
DNMT3A		Little evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	759	815
ALK		No evidence available	No evidence available	GRCh38 GRCh37	5128	5168
ASXL2		No evidence available	No evidence available	GRCh38 GRCh37	475	504
DHX57	-	No evidence available	No evidence available	GRCh38 GRCh37	108	134
SOS1		No evidence available	No evidence available	GRCh38 GRCh37	1669	1772
ABHD1		-	-	GRCh38 GRCh37	35	56
ADCY3		-	-	GRCh38 GRCh37	404	496
ADGRF3	-	-	-	GRCh38 GRCh37	79	102
AGBL5		-	-	GRCh38 GRCh37	664	684

There are 123 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)	no assertion criteria provided	Feb 23, 2021	RCV001581099.2

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 (Feb 23, 2021)	no assertion criteria provided Method: clinical testing	See cases Affected status: yes Allele origin: inherited	Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ Accession: SCV001805857.1 First in ClinVar: Sep 08, 2021 Last updated: Sep 08, 2021	Publications: PubMed (2) PubMed: 9321771‚ 31690835 Clinical Features: Delayed speech and language development (present) , Motor delay (present) , Global developmental delay (present) , Short stature (present) , Primary microcephaly (present) , Growth … (more) Delayed speech and language development (present) , Motor delay (present) , Global developmental delay (present) , Short stature (present) , Primary microcephaly (present) , Growth delay (present) , Cryptorchidism (present) (less) Age: 0-9 years Sex: male

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
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).	Riggs ER	Genetics in medicine : official journal of the American College of Medical Genetics	2020	PMID: 31690835
Interstitial duplication of the short arm of chromosome 2: report of a new case and review.	Mégarbané A	Journal of medical genetics	1997	PMID: 9321771

Text-mined citations for this variant ...

Record last updated Apr 02, 2023

ClinVar Genomic variation as it relates to human health

GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...