GRCh38/hg38 22q11.21(chr22:20705381-21111370)x1 AND See cases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 27, 2013
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000143539.6

Allele description [Variation Report for GRCh38/hg38 22q11.21(chr22:20705381-21111370)x1]

GRCh38/hg38 22q11.21(chr22:20705381-21111370)x1

Genes:

LOC130067004:ATAC-STARR-seq lymphoblastoid active region 18684 [Gene]
LOC130067005:ATAC-STARR-seq lymphoblastoid active region 18685 [Gene]
LOC130067006:ATAC-STARR-seq lymphoblastoid active region 18686 [Gene]
LOC130067007:ATAC-STARR-seq lymphoblastoid active region 18687 [Gene]
LOC130067009:ATAC-STARR-seq lymphoblastoid active region 18688 [Gene]
LOC130067011:ATAC-STARR-seq lymphoblastoid active region 18689 [Gene]
LOC130067012:ATAC-STARR-seq lymphoblastoid active region 18690 [Gene]
LOC130067013:ATAC-STARR-seq lymphoblastoid active region 18691 [Gene]
LOC130067014:ATAC-STARR-seq lymphoblastoid active region 18692 [Gene]
LOC130067015:ATAC-STARR-seq lymphoblastoid active region 18693 [Gene]
LOC130067017:ATAC-STARR-seq lymphoblastoid active region 18694 [Gene]
LOC130067020:ATAC-STARR-seq lymphoblastoid active region 18695 [Gene]
LOC130067003:ATAC-STARR-seq lymphoblastoid silent region 13499 [Gene]
LOC130067008:ATAC-STARR-seq lymphoblastoid silent region 13500 [Gene]
LOC130067010:ATAC-STARR-seq lymphoblastoid silent region 13502 [Gene]
LOC130067016:ATAC-STARR-seq lymphoblastoid silent region 13504 [Gene]
LOC130067018:ATAC-STARR-seq lymphoblastoid silent region 13505 [Gene]
LOC130067019:ATAC-STARR-seq lymphoblastoid silent region 13506 [Gene]
CRKL:CRK like proto-oncogene, adaptor protein [Gene - OMIM - HGNC]
LOC129391266:MPRA-validated peak4460 silencer [Gene]
LOC129391267:MPRA-validated peak4461 silencer [Gene]
LOC121627931:Sharpr-MPRA regulatory region 10319 [Gene]
LOC121627930:Sharpr-MPRA regulatory region 10582 [Gene]
LOC112694767:Sharpr-MPRA regulatory region 818 [Gene]
THAP7:THAP domain containing 7 [Gene - OMIM - HGNC]
THAP7-AS1:THAP7 antisense RNA 1 [Gene - HGNC]
AIFM3:apoptosis inducing factor mitochondria associated 3 [Gene - OMIM - HGNC]
LRRC74B:leucine rich repeat containing 74B [Gene - HGNC]
LZTR1:leucine zipper like post translational regulator 1 [Gene - OMIM - HGNC]
LINC01637:long intergenic non-protein coding RNA 1637 [Gene - HGNC]
MIR649:microRNA 649 [Gene - HGNC]
PI4KA:phosphatidylinositol 4-kinase alpha [Gene - OMIM - HGNC]
P2RX6:purinergic receptor P2X 6 [Gene - OMIM - HGNC]
SERPIND1:serpin family D member 1 [Gene - OMIM - HGNC]
SLC7A4:solute carrier family 7 member 4 [Gene - OMIM - HGNC]
SNAP29:synaptosome associated protein 29 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

22q11.21

Genomic location:

Preferred name:

GRCh38/hg38 22q11.21(chr22:20705381-21111370)x1

HGVS:

NC_000022.11:g.(?_20705381)_(21111370_?)del
NC_000022.10:g.(?_21059669)_(21465659_?)del
NC_000022.9:g.(?_19389669)_(19795659_?)del

Links:

dbVar: nssv3397254; dbVar: nsv995642

Observations:

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000183068	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Uncertain significance (Sep 27, 2013)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000183068

ISCA site 1

See additional submitters

no assertion criteria provided

Uncertain significance
(Sep 27, 2013)

de novo

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]

PMID:: 20466091
PMCID:: PMC2869000

Details of each submission

From ISCA site 1, SCV000183068.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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