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NC_000022.10:g.21514655_22986816del AND Chromosome 22q11.2 deletion syndrome, distal

Germline classification:
Pathogenic (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001250235.1

Allele description [Variation Report for NC_000022.10:g.21514655_22986816del]

NC_000022.10:g.21514655_22986816del

Genes:
  • TOP3B:DNA topoisomerase III beta [Gene - OMIM - HGNC]
  • HIC2:HIC ZBTB transcriptional repressor 2 [Gene - OMIM - HGNC]
  • PPM1F-AS1:PPM1F antisense RNA 1 [Gene - HGNC]
  • PRAME:PRAME nuclear receptor transcriptional regulator [Gene - OMIM - HGNC]
  • RIMBP3B:RIMS binding protein 3B [Gene - OMIM - HGNC]
  • RIMBP3C:RIMS binding protein 3C [Gene - OMIM - HGNC]
  • VPREB1:V-set pre-B cell surrogate light chain 1 [Gene - OMIM - HGNC]
  • YDJC:YdjC chitooligosaccharide deacetylase homolog [Gene - OMIM - HGNC]
  • CCDC116:coiled-coil domain containing 116 [Gene - HGNC]
  • GGT2:gamma-glutamyltransferase 2 [Gene - OMIM - HGNC]
  • MIR130B:microRNA 130b [Gene - OMIM - HGNC]
  • MAPK1:mitogen-activated protein kinase 1 [Gene - OMIM - HGNC]
  • PPIL2:peptidylprolyl isomerase like 2 [Gene - OMIM - HGNC]
  • PPM1F:protein phosphatase, Mg2+/Mn2+ dependent 1F [Gene - OMIM - HGNC]
  • SDF2L1:stromal cell derived factor 2 like 1 [Gene - OMIM - HGNC]
  • TMEM191C:transmembrane protein 191C [Gene - HGNC]
  • UBE2L3:ubiquitin conjugating enzyme E2 L3 [Gene - OMIM - HGNC]
  • YPEL1:yippee like 1 [Gene - OMIM - HGNC]
  • ZNF280A:zinc finger protein 280A [Gene - HGNC]
  • ZNF280B:zinc finger protein 280B [Gene - HGNC]
Variant type:
Deletion
Cytogenetic location:
22q11.21-11.22
Genomic location:
Chr22: 21514655 - 22986816 (on Assembly GRCh37)
Preferred name:
NC_000022.10:g.21514655_22986816del
HGVS:
NC_000022.10:g.21514655_22986816del

Condition(s)

Name:
Chromosome 22q11.2 deletion syndrome, distal
Identifiers:
MONDO: MONDO:0012740; MedGen: C2678480; OMIM: 611867

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001424516Centogene AG - the Rare Disease Company
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicunknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Centogene AG - the Rare Disease Company, SCV001424516.1

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

Last Updated: Mar 26, 2023