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GRCh38/hg38 13q12.12(chr13:22980365-24370481)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 9, 2012
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:
RCV000138208.5

Allele description [Variation Report for GRCh38/hg38 13q12.12(chr13:22980365-24370481)x3]

GRCh38/hg38 13q12.12(chr13:22980365-24370481)x3

Genes:
  • LOC130009362:ATAC-STARR-seq lymphoblastoid active region 7449 [Gene]
  • LOC130009363:ATAC-STARR-seq lymphoblastoid active region 7450 [Gene]
  • LOC130009364:ATAC-STARR-seq lymphoblastoid active region 7451 [Gene]
  • LOC130009367:ATAC-STARR-seq lymphoblastoid active region 7452 [Gene]
  • LOC130009368:ATAC-STARR-seq lymphoblastoid active region 7453 [Gene]
  • LOC130009369:ATAC-STARR-seq lymphoblastoid active region 7454 [Gene]
  • LOC130009370:ATAC-STARR-seq lymphoblastoid active region 7455 [Gene]
  • LOC130009372:ATAC-STARR-seq lymphoblastoid active region 7456 [Gene]
  • LOC130009373:ATAC-STARR-seq lymphoblastoid active region 7457 [Gene]
  • LOC130009374:ATAC-STARR-seq lymphoblastoid active region 7458 [Gene]
  • LOC130009375:ATAC-STARR-seq lymphoblastoid active region 7459 [Gene]
  • LOC130009378:ATAC-STARR-seq lymphoblastoid active region 7460 [Gene]
  • LOC130009379:ATAC-STARR-seq lymphoblastoid active region 7461 [Gene]
  • LOC130009380:ATAC-STARR-seq lymphoblastoid active region 7462 [Gene]
  • LOC130009381:ATAC-STARR-seq lymphoblastoid active region 7463 [Gene]
  • LOC130009382:ATAC-STARR-seq lymphoblastoid active region 7464 [Gene]
  • LOC130009383:ATAC-STARR-seq lymphoblastoid active region 7465 [Gene]
  • LOC130009384:ATAC-STARR-seq lymphoblastoid active region 7466 [Gene]
  • LOC130009385:ATAC-STARR-seq lymphoblastoid active region 7467 [Gene]
  • LOC130009386:ATAC-STARR-seq lymphoblastoid active region 7468 [Gene]
  • LOC130009387:ATAC-STARR-seq lymphoblastoid active region 7469 [Gene]
  • LOC130009389:ATAC-STARR-seq lymphoblastoid active region 7470 [Gene]
  • LOC130009390:ATAC-STARR-seq lymphoblastoid active region 7472 [Gene]
  • LOC130009391:ATAC-STARR-seq lymphoblastoid active region 7473 [Gene]
  • LOC130009392:ATAC-STARR-seq lymphoblastoid active region 7474 [Gene]
  • LOC130009393:ATAC-STARR-seq lymphoblastoid active region 7475 [Gene]
  • LOC130009394:ATAC-STARR-seq lymphoblastoid active region 7476 [Gene]
  • LOC130009395:ATAC-STARR-seq lymphoblastoid active region 7477 [Gene]
  • LOC130009365:ATAC-STARR-seq lymphoblastoid silent region 5171 [Gene]
  • LOC130009366:ATAC-STARR-seq lymphoblastoid silent region 5172 [Gene]
  • LOC130009371:ATAC-STARR-seq lymphoblastoid silent region 5173 [Gene]
  • LOC130009376:ATAC-STARR-seq lymphoblastoid silent region 5174 [Gene]
  • LOC130009377:ATAC-STARR-seq lymphoblastoid silent region 5175 [Gene]
  • LOC130009388:ATAC-STARR-seq lymphoblastoid silent region 5176 [Gene]
  • LOC130009396:ATAC-STARR-seq lymphoblastoid silent region 5177 [Gene]
  • C1QTNF9:C1q and TNF related 9 [Gene - OMIM - HGNC]
  • C1QTNF9B:C1q and TNF related 9B [Gene - OMIM - HGNC]
  • LOC132090179:Neanderthal introgressed variant-containing enhancer experimental_32684 [Gene]
  • LOC132090180:Neanderthal introgressed variant-containing enhancer experimental_32713 [Gene]
  • LOC132090181:Neanderthal introgressed variant-containing enhancer experimental_32734 [Gene]
  • LOC132090182:Neanderthal introgressed variant-containing enhancer experimental_32745 [Gene]
  • SACS-AS1:SACS antisense RNA 1 [Gene - HGNC]
  • SPATA13-AS1:SPATA13 antisense RNA 1 [Gene - HGNC]
  • LOC112163649:Sharpr-MPRA regulatory region 10151 [Gene]
  • LOC124849295:Sharpr-MPRA regulatory region 6352 [Gene]
  • LOC121466729:Sharpr-MPRA regulatory region 9740 [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]
  • LINC00362:long intergenic non-protein coding RNA 362 [Gene - HGNC]
  • LINC00566:long intergenic non-protein coding RNA 566 [Gene - HGNC]
  • MIR2276:microRNA 2276 [Gene - HGNC]
  • MIPEP:mitochondrial intermediate peptidase [Gene - OMIM - HGNC]
  • PCOTH:prostate and testis expressed opposite C1QTNF9B and MIPEP [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(chr13:22980365-24370481)x3
HGVS:
  • NC_000013.11:g.(?_22980365)_(24370481_?)dup
  • NC_000013.10:g.(?_23554504)_(24944619_?)dup
  • NC_000013.9:g.(?_22452504)_(23842619_?)dup
Links:
dbVar: nssv1495444; dbVar: nsv869411
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
SCV000178477ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Mar 9, 2012) 		unknownclinical 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

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 1, SCV000178477.4

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

Last Updated: May 7, 2024