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GRCh38/hg38 7q11.23-21.11(chr7:76440557-78180243)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 10, 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:
RCV000137450.5

Allele description [Variation Report for GRCh38/hg38 7q11.23-21.11(chr7:76440557-78180243)x3]

GRCh38/hg38 7q11.23-21.11(chr7:76440557-78180243)x3

Genes:
  • LOC108228209:7q11.23 distal recombination region [Gene]
  • LOC129998701:ATAC-STARR-seq lymphoblastoid active region 26202 [Gene]
  • LOC129998702:ATAC-STARR-seq lymphoblastoid active region 26203 [Gene]
  • LOC129998704:ATAC-STARR-seq lymphoblastoid active region 26204 [Gene]
  • LOC129998710:ATAC-STARR-seq lymphoblastoid active region 26205 [Gene]
  • LOC129998711:ATAC-STARR-seq lymphoblastoid active region 26206 [Gene]
  • LOC129998716:ATAC-STARR-seq lymphoblastoid active region 26208 [Gene]
  • LOC129998718:ATAC-STARR-seq lymphoblastoid active region 26209 [Gene]
  • LOC129998703:ATAC-STARR-seq lymphoblastoid silent region 18318 [Gene]
  • LOC129998705:ATAC-STARR-seq lymphoblastoid silent region 18319 [Gene]
  • LOC129998706:ATAC-STARR-seq lymphoblastoid silent region 18320 [Gene]
  • LOC129998707:ATAC-STARR-seq lymphoblastoid silent region 18321 [Gene]
  • LOC129998708:ATAC-STARR-seq lymphoblastoid silent region 18322 [Gene]
  • LOC129998709:ATAC-STARR-seq lymphoblastoid silent region 18323 [Gene]
  • LOC129998712:ATAC-STARR-seq lymphoblastoid silent region 18324 [Gene]
  • LOC129998713:ATAC-STARR-seq lymphoblastoid silent region 18325 [Gene]
  • LOC129998714:ATAC-STARR-seq lymphoblastoid silent region 18326 [Gene]
  • LOC129998715:ATAC-STARR-seq lymphoblastoid silent region 18329 [Gene]
  • LOC129998717:ATAC-STARR-seq lymphoblastoid silent region 18330 [Gene]
  • LOC129998719:ATAC-STARR-seq lymphoblastoid silent region 18331 [Gene]
  • LOC129998720:ATAC-STARR-seq lymphoblastoid silent region 18332 [Gene]
  • LOC129998721:ATAC-STARR-seq lymphoblastoid silent region 18333 [Gene]
  • APTR:Alu-mediated CDKN1A/p21 transcriptional regulator [Gene - OMIM - HGNC]
  • LOC126860076:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:76357185-76358384 [Gene]
  • DDX3ILA1:DDX3 interacting lncRNA 1 [Gene - HGNC]
  • LOC126860078:MED14-independent group 3 enhancer GRCh37_chr7:77619182-77620381 [Gene]
  • LOC129389817:MPRA-validated peak6614 silencer [Gene]
  • LOC129389818:MPRA-validated peak6615 silencer [Gene]
  • LOC126860077:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:77021860-77023059 [Gene]
  • POMZP3:POM121 and ZP3 fusion [Gene - OMIM - HGNC]
  • LOC123956172:Sharpr-MPRA regulatory region 3059 [Gene]
  • CCDC146:coiled-coil domain containing 146 [Gene - OMIM - HGNC]
  • DTX2:deltex E3 ubiquitin ligase 2 [Gene - OMIM - HGNC]
  • FGL2:fibrinogen like 2 [Gene - OMIM - HGNC]
  • GSAP:gamma-secretase activating protein [Gene - OMIM - HGNC]
  • LINC03009:long intergenic non-protein coding RNA 3009 [Gene - HGNC]
  • MAGI2:membrane associated guanylate kinase, WW and PDZ domain containing 2 [Gene - OMIM - HGNC]
  • PTPN12:protein tyrosine phosphatase non-receptor type 12 [Gene - OMIM - HGNC]
  • PHTF2:putative homeodomain transcription factor 2 [Gene - OMIM - HGNC]
  • RSBN1L:round spermatid basic protein 1 like [Gene - HGNC]
  • SPDYE16:speedy/RINGO cell cycle regulator family member E16 [Gene - HGNC]
  • SPDYE17:speedy/RINGO cell cycle regulator family member E17 [Gene - HGNC]
  • SPDYE18:speedy/RINGO cell cycle regulator family member E18 [Gene - HGNC]
  • TMEM60:transmembrane protein 60 [Gene - HGNC]
  • LOC101927243:uncharacterized LOC101927243 [Gene]
  • UPK3B:uroplakin 3B [Gene - OMIM - HGNC]
  • ZP3:zona pellucida glycoprotein 3 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
7q11.23-21.11
Genomic location:
Preferred name:
GRCh38/hg38 7q11.23-21.11(chr7:76440557-78180243)x3
HGVS:
  • NC_000007.14:g.(?_76440557)_(78180243_?)dup
  • NC_000007.12:g.(?_75907810)_(77647496_?)dup
  • NC_000007.13:g.(?_76069874)_(77809560_?)dup
Links:
dbVar: nssv1415297; dbVar: nsv817382
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
SCV000177673ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Oct 10, 2011) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not 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, SCV000177673.4

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

Last Updated: May 7, 2024