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GRCh38/hg38 Xp22.12(chrX:19677033-19881974)x0 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 12, 2011
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:
RCV000051385.4

Allele description [Variation Report for GRCh38/hg38 Xp22.12(chrX:19677033-19881974)x0]

GRCh38/hg38 Xp22.12(chrX:19677033-19881974)x0

Genes:
  • LOC130068005:ATAC-STARR-seq lymphoblastoid active region 29464 [Gene]
  • LOC130068006:ATAC-STARR-seq lymphoblastoid active region 29465 [Gene]
  • LOC130068007:ATAC-STARR-seq lymphoblastoid active region 29466 [Gene]
  • LOC130068008:ATAC-STARR-seq lymphoblastoid active region 29467 [Gene]
  • LOC130068011:ATAC-STARR-seq lymphoblastoid active region 29468 [Gene]
  • LOC130068013:ATAC-STARR-seq lymphoblastoid active region 29469 [Gene]
  • LOC130068014:ATAC-STARR-seq lymphoblastoid active region 29470 [Gene]
  • LOC130068015:ATAC-STARR-seq lymphoblastoid active region 29471 [Gene]
  • LOC130068016:ATAC-STARR-seq lymphoblastoid active region 29472 [Gene]
  • LOC130068017:ATAC-STARR-seq lymphoblastoid active region 29473 [Gene]
  • LOC130068018:ATAC-STARR-seq lymphoblastoid active region 29474 [Gene]
  • LOC130068019:ATAC-STARR-seq lymphoblastoid active region 29475 [Gene]
  • LOC130068009:ATAC-STARR-seq lymphoblastoid silent region 20687 [Gene]
  • LOC130068010:ATAC-STARR-seq lymphoblastoid silent region 20688 [Gene]
  • LOC130068012:ATAC-STARR-seq lymphoblastoid silent region 20689 [Gene]
  • SH3KBP1:SH3 domain containing kinase binding protein 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
Xp22.12
Genomic location:
Preferred name:
GRCh38/hg38 Xp22.12(chrX:19677033-19881974)x0
HGVS:
  • NC_000023.11:g.(?_19677033)_(19881974_?)del
  • NC_000023.10:g.(?_19695151)_(19900092_?)del
  • NC_000023.9:g.(?_19605072)_(19810013_?)del
Links:
dbVar: nssv580670; dbVar: nsv529909
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000078732GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Uncertain significance
(Aug 12, 2011) 		not providedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From GeneDx, SCV000078732.4

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

Last Updated: Oct 14, 2023