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GRCh38/hg38 7q11.22-11.23(chr7:71461127-73614730)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 22, 2010
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:
RCV000135816.5

Allele description [Variation Report for GRCh38/hg38 7q11.22-11.23(chr7:71461127-73614730)x1]

GRCh38/hg38 7q11.22-11.23(chr7:71461127-73614730)x1

Genes:
  • LOC129998576:ATAC-STARR-seq lymphoblastoid active region 26116 [Gene]
  • LOC129998579:ATAC-STARR-seq lymphoblastoid active region 26117 [Gene]
  • LOC129998580:ATAC-STARR-seq lymphoblastoid active region 26118 [Gene]
  • LOC129998581:ATAC-STARR-seq lymphoblastoid active region 26119 [Gene]
  • LOC129998582:ATAC-STARR-seq lymphoblastoid active region 26120 [Gene]
  • LOC129998584:ATAC-STARR-seq lymphoblastoid active region 26121 [Gene]
  • LOC129998585:ATAC-STARR-seq lymphoblastoid active region 26122 [Gene]
  • LOC129998588:ATAC-STARR-seq lymphoblastoid active region 26123 [Gene]
  • LOC129998590:ATAC-STARR-seq lymphoblastoid active region 26124 [Gene]
  • LOC129998596:ATAC-STARR-seq lymphoblastoid active region 26125 [Gene]
  • LOC129998577:ATAC-STARR-seq lymphoblastoid silent region 18236 [Gene]
  • LOC129998578:ATAC-STARR-seq lymphoblastoid silent region 18237 [Gene]
  • LOC129998583:ATAC-STARR-seq lymphoblastoid silent region 18244 [Gene]
  • LOC129869689:ATAC-STARR-seq lymphoblastoid silent region 18245 [Gene]
  • LOC129998586:ATAC-STARR-seq lymphoblastoid silent region 18246 [Gene]
  • LOC129998587:ATAC-STARR-seq lymphoblastoid silent region 18248 [Gene]
  • LOC129998589:ATAC-STARR-seq lymphoblastoid silent region 18249 [Gene]
  • LOC129998591:ATAC-STARR-seq lymphoblastoid silent region 18250 [Gene]
  • LOC129998592:ATAC-STARR-seq lymphoblastoid silent region 18251 [Gene]
  • LOC129998593:ATAC-STARR-seq lymphoblastoid silent region 18252 [Gene]
  • LOC129998594:ATAC-STARR-seq lymphoblastoid silent region 18253 [Gene]
  • LOC129998595:ATAC-STARR-seq lymphoblastoid silent region 18254 [Gene]
  • BCL7B:BAF chromatin remodeling complex subunit BCL7B [Gene - OMIM - HGNC]
  • LOC126860071:BRD4-independent group 4 enhancer GRCh37_chr7:72396775-72397974 [Gene]
  • FKBP6:FKBP prolyl isomerase family member 6 (inactive) [Gene - OMIM - HGNC]
  • LOC126860070:MED14-independent group 3 enhancer GRCh37_chr7:71870231-71871430 [Gene]
  • MLXIPL:MLX interacting protein like [Gene - OMIM - HGNC]
  • LOC129389812:MPRA-validated peak6577 silencer [Gene]
  • LOC129389813:MPRA-validated peak6582 silencer [Gene]
  • NSUN5:NOP2/Sun RNA methyltransferase 5 [Gene - OMIM - HGNC]
  • LOC132089555:Neanderthal introgressed variant-containing enhancer experimental_99965 [Gene]
  • POM121:POM121 transmembrane nucleoporin [Gene - OMIM - HGNC]
  • LOC123956159:Sharpr-MPRA regulatory region 10074 [Gene]
  • LOC121175345:Sharpr-MPRA regulatory region 11638 [Gene]
  • LOC113748406:Sharpr-MPRA regulatory region 3958 [Gene]
  • LOC123956160:Sharpr-MPRA regulatory region 5103 [Gene]
  • LOC106029311:Williams-Beuren syndrome centromeric block B recombination region [Gene]
  • BAZ1B:bromodomain adjacent to zinc finger domain 1B [Gene - OMIM - HGNC]
  • CALN1:calneuron 1 [Gene - OMIM - HGNC]
  • FZD9:frizzled class receptor 9 [Gene - OMIM - HGNC]
  • MIR4650-2:microRNA 4650-2 [Gene - HGNC]
  • GALNT17:polypeptide N-acetylgalactosaminyltransferase 17 [Gene - OMIM - HGNC]
  • SPDYE10:speedy/RINGO cell cycle regulator family member E10 [Gene - HGNC]
  • SPDYE11:speedy/RINGO cell cycle regulator family member E11 [Gene - HGNC]
  • SPDYE7P:speedy/RINGO cell cycle regulator family member E7, pseudogene [Gene - HGNC]
  • SPDYE8:speedy/RINGO cell cycle regulator family member E8 [Gene - HGNC]
  • SPDYE9:speedy/RINGO cell cycle regulator family member E9 [Gene - HGNC]
  • TYW1B:tRNA-yW synthesizing protein 1 homolog B [Gene - HGNC]
  • TBL2:transducin beta like 2 [Gene - OMIM - HGNC]
  • TRIM50:tripartite motif containing 50 [Gene - OMIM - HGNC]
  • TRIM74:tripartite motif containing 74 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
7q11.22-11.23
Genomic location:
Preferred name:
GRCh38/hg38 7q11.22-11.23(chr7:71461127-73614730)x1
HGVS:
  • NC_000007.14:g.(?_71461127)_(73614730_?)del
  • NC_000007.12:g.(?_70564048)_(72666996_?)del
  • NC_000007.13:g.(?_70926112)_(72806397_?)del
Links:
dbVar: nssv582766; dbVar: nsv533088
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
SCV000175813ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Dec 22, 2010) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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, SCV000175813.4

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

Last Updated: May 7, 2024