GRCh38/hg38 22q11.21(chr22:20400132-21086225)x1 AND See cases

Clinical significance:Conflicting interpretations of pathogenicity, Pathogenic(1);Uncertain significance(1) (Last evaluated: Aug 19, 2013)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000133629.5

Allele description [Variation Report for GRCh38/hg38 22q11.21(chr22:20400132-21086225)x1]

GRCh38/hg38 22q11.21(chr22:20400132-21086225)x1

Genes:
  • CRKL:CRK like proto-oncogene, adaptor protein [Gene - OMIM - HGNC]
  • LOC112694767:Sharpr-MPRA regulatory region 818 [Gene]
  • THAP7:THAP domain containing 7 [Gene - OMIM - HGNC]
  • THAP7-AS1:THAP7 antisense RNA 1 [Gene - HGNC]
  • LOC110121413:VISTA enhancer hs1620 [Gene]
  • AIFM3:apoptosis inducing factor mitochondria associated 3 [Gene - OMIM - HGNC]
  • KLHL22:kelch like family member 22 [Gene - OMIM - HGNC]
  • LRRC74B:leucine rich repeat containing 74B [Gene - HGNC]
  • LZTR1:leucine zipper like transcription regulator 1 [Gene - OMIM - HGNC]
  • LINC01637:long intergenic non-protein coding RNA 1637 [Gene - HGNC]
  • MED15:mediator complex subunit 15 [Gene - OMIM - HGNC]
  • MIR649:microRNA 649 [Gene - HGNC]
  • PI4KA:phosphatidylinositol 4-kinase alpha [Gene - OMIM - HGNC]
  • P2RX6:purinergic receptor P2X 6 [Gene - OMIM - HGNC]
  • SCARF2:scavenger receptor class F member 2 [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]
  • ZNF74:zinc finger protein 74 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
22q11.21
Genomic location:
Preferred name:
GRCh38/hg38 22q11.21(chr22:20400132-21086225)x1
HGVS:
  • NC_000022.11:g.(?_20400132)_(21086225_?)del
  • NC_000022.10:g.(?_20754422)_(21440514_?)del
  • NC_000022.9:g.(?_19084422)_(19770514_?)del
Links:
dbVar: nssv3396318; dbVar: nssv575749; dbVar: nssv706350; dbVar: nsv491620
Observations:
3

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000172982ISCA site 4

See additional submitters

no assertion criteria providedPathogenic
(Aug 19, 2013)
maternalclinical testing

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

SCV000172983ISCA site 1

See additional submitters

no assertion criteria providedUncertain significance
(Aug 5, 2011)
maternalclinical testing

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

Description

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.

SCV000172982

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter. For data from the original published study, [Kaminsky, et al. 2011|/pubmed/21844811], please see [nstd101|/dbvar/studies/nstd101/].

SCV000172982

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.

SCV000172983

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter. For data from the original published study, [Kaminsky, et al. 2011|/pubmed/21844811], please see [nstd101|/dbvar/studies/nstd101/].

SCV000172983

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes3not providednot providednot providednot providedclinical 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 4, SCV000172982.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providedDiscovery1not providednot providednot provided
2maternalyesnot providednot providedDiscovery1not providednot providednot provided

From ISCA site 1, SCV000172983.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Aug 20, 2020

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