GRCh38/hg38 13q12.12(chr13:22992623-24336746)x3 AND See cases

Clinical significance:Uncertain significance (Last evaluated: Aug 12, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000051309.5

Allele description [Variation Report for GRCh38/hg38 13q12.12(chr13:22992623-24336746)x3]

GRCh38/hg38 13q12.12(chr13:22992623-24336746)x3

Genes:
  • C1QTNF9:C1q and TNF related 9 [Gene - OMIM - HGNC]
  • C1QTNF9B:C1q and TNF related 9B [Gene - OMIM - HGNC]
  • PCOTH:Pro-X-Gly collagen triple helix like repeat containing [Gene - OMIM - HGNC]
  • SACS-AS1:SACS antisense RNA 1 [Gene - HGNC]
  • SPATA13-AS1:SPATA13 antisense RNA 1 [Gene - HGNC]
  • LOC112163649:Sharpr-MPRA regulatory region 10151 [Gene]
  • TNFRSF19:TNF receptor superfamily member 19 [Gene - OMIM - HGNC]
  • LOC106783494:conserved acetylation island sequence 9 enhancer [Gene]
  • LINC00327:long intergenic non-protein coding RNA 327 [Gene - HGNC]
  • LINC00566:long intergenic non-protein coding RNA 566 [Gene - HGNC]
  • MIR2276:microRNA 2276 [Gene - HGNC]
  • MIPEP:mitochondrial intermediate peptidase [Gene - OMIM - HGNC]
  • SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
  • SGCG:sarcoglycan gamma [Gene - OMIM - HGNC]
  • SPATA13:spermatogenesis associated 13 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
GRCh38/hg38 13q12.12(chr13:22992623-24336746)x3
HGVS:
  • NC_000013.11:g.(?_22992623)_(24336746_?)dup
  • NC_000013.10:g.(?_23566762)_(24910884_?)dup
  • NC_000013.9:g.(?_22464762)_(23808884_?)dup
Links:
dbVar: nssv580176; dbVar: nsv529838
Observations:
1

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
SCV000078655ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Aug 12, 2011)
maternalclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not 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 ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories, SCV000078655.5

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

Last Updated: Nov 2, 2019

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