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GRCh38/hg38 22q13.2(chr22:42967418-43046247)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 30, 2011
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:
RCV000140774.3

Allele description [Variation Report for GRCh38/hg38 22q13.2(chr22:42967418-43046247)x3]

GRCh38/hg38 22q13.2(chr22:42967418-43046247)x3

Genes:
  • LOC130067622:ATAC-STARR-seq lymphoblastoid active region 19180 [Gene]
  • LOC130067624:ATAC-STARR-seq lymphoblastoid active region 19181 [Gene]
  • LOC130067625:ATAC-STARR-seq lymphoblastoid active region 19182 [Gene]
  • LOC130067623:ATAC-STARR-seq lymphoblastoid silent region 13847 [Gene]
  • TTLL1:TTL family tubulin polyglutamylase complex subunit L1 [Gene - OMIM - HGNC]
  • TTLL1-AS1:TTLL1 antisense RNA 1 [Gene - HGNC]
  • PACSIN2:protein kinase C and casein kinase substrate in neurons 2 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
22q13.2
Genomic location:
Preferred name:
GRCh38/hg38 22q13.2(chr22:42967418-43046247)x3
HGVS:
  • NC_000022.11:g.(?_42967418)_(43046247_?)dup
  • NC_000022.10:g.(?_43363424)_(43442253_?)dup
Links:
dbVar: nssv1610244; dbVar: nsv932051
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
SCV000181535GeneDx
no assertion criteria provided
Uncertain significance
(Apr 30, 2011) 		not providedclinical testing

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000181535.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023