VCV000523273.2 - ClinVar

GRCh37/hg19 22q11.21(chr22:18894835-20311763)

Germline

Classification

criteria provided, single submitter. Learn more about how ClinVar calculates review status.

Pathogenic
Pathogenic (1)

This classification is based on the single submission received

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.

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

GRCh37/hg19 22q11.21(chr22:18894835-20311763)

Variation ID: 523273 Accession: VCV000523273.2

Type and length

copy number loss, 1,416,929 bp

Location

Cytogenetic: 22q11.21 22: 18894835-20311763 (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	May 12, 2018	May 12, 2018	Jan 1, 2017

HGVS

Nucleotide	Protein	Molecular consequence
NC_000022.10:g.(?_18894835)_(20311763_?)del

Protein change

Other names

Canonical SPDI

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.
TBX1		Little evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	1196	1615
GP1BB		Gene associated with autosomal recessive phenotype	Not yet evaluated	GRCh38 GRCh37	3	576
PRODH		Gene associated with autosomal recessive phenotype	No evidence available	GRCh38 GRCh37	486	933
SLC25A1		Gene associated with autosomal recessive phenotype	Not yet evaluated	GRCh38 GRCh37	240	655
HIRA		No evidence available	No evidence available	GRCh38 GRCh37	205	617
ARVCF		-	-	GRCh38 GRCh37	319	826
C22orf39	-	-	-	GRCh38 GRCh37	5	417
CDC45		-	-	GRCh38 GRCh37	390	803
CLDN5		-	-	GRCh38 GRCh37	46	457
CLTCL1		-	-	GRCh38 GRCh37	364	806

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.
Abnormal soft palate morphology Astigmatism Ectopic thymus tissue Feeding difficulties Inguinal hernia Speech articulation difficulties Umbilical hernia Velopharyngeal insufficiency Vomiting	Pathogenic (1)	criteria provided, single submitter	Jan 1, 2017	RCV000626527.2

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.	Expand all rows Collapse all rows 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 (Jan 01, 2017) C Contributing to aggregate classification	criteria provided, single submitter (ACMG Guidelines, 2015)	Abnormal soft palate morphology Astigmatism Ectopic thymus tissue Feeding difficulties Inguinal hernia Speech articulation difficulties Umbilical hernia Velopharyngeal insufficiency Vomiting	Centre for Mendelian Genomics, University Medical Centre Ljubljana Accession: SCV000747228.1 First in ClinVar: May 12, 2018 Last updated: May 12, 2018	Observation: 1 Collection method: clinical testing Allele origin: unknown Affected status: yes Observation 1 Collection method: clinical testing Allele origin: unknown Affected status: yes

Citations for germline classification of this variant

There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for this variant ...

Record last updated Apr 28, 2025