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GRCh38/hg38 5p15.1-14.3(chr5:16456444-18561765)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 10, 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:
RCV000143153.5

Allele description [Variation Report for GRCh38/hg38 5p15.1-14.3(chr5:16456444-18561765)x1]

GRCh38/hg38 5p15.1-14.3(chr5:16456444-18561765)x1

Genes:
  • LOC129993731:ATAC-STARR-seq lymphoblastoid active region 22421 [Gene]
  • LOC129993732:ATAC-STARR-seq lymphoblastoid active region 22422 [Gene]
  • LOC129993733:ATAC-STARR-seq lymphoblastoid active region 22423 [Gene]
  • LOC129993738:ATAC-STARR-seq lymphoblastoid active region 22424 [Gene]
  • LOC129993734:ATAC-STARR-seq lymphoblastoid silent region 15947 [Gene]
  • LOC129993735:ATAC-STARR-seq lymphoblastoid silent region 15948 [Gene]
  • LOC129993736:ATAC-STARR-seq lymphoblastoid silent region 15949 [Gene]
  • LOC129993737:ATAC-STARR-seq lymphoblastoid silent region 15950 [Gene]
  • LOC129993739:ATAC-STARR-seq lymphoblastoid silent region 15951 [Gene]
  • BASP1-AS1:BASP1 antisense RNA 1 [Gene - HGNC]
  • LOC108254683:BASP1-FTH1P10 intergenic CAGE-defined low expression enhancer [Gene]
  • H3Y1:H3.Y histone 1 [Gene - HGNC]
  • H3Y2:H3.Y histone 2 [Gene - HGNC]
  • LOC132089229:Neanderthal introgressed variant-containing enhancer experimental_83741 [Gene]
  • RETREG1-AS1:RETREG1 antisense RNA 1 [Gene - HGNC]
  • LOC123493276:Sharpr-MPRA regulatory region 14227 [Gene]
  • LOC121056761:Sharpr-MPRA regulatory region 14736 [Gene]
  • LOC123493275:Sharpr-MPRA regulatory region 6771 [Gene]
  • LOC123493272:Sharpr-MPRA regulatory region 7449 [Gene]
  • LOC123493274:Sharpr-MPRA regulatory region 7707 [Gene]
  • LOC123493273:Sharpr-MPRA regulatory region 7757 [Gene]
  • TAF11L10:TATA-box binding protein associated factor 11 like 10 [Gene - HGNC]
  • TAF11L11:TATA-box binding protein associated factor 11 like 11 [Gene - HGNC]
  • TAF11L12:TATA-box binding protein associated factor 11 like 12 [Gene - HGNC]
  • TAF11L13:TATA-box binding protein associated factor 11 like 13 [Gene - HGNC]
  • TAF11L14:TATA-box binding protein associated factor 11 like 14 [Gene - HGNC]
  • TAF11L2:TATA-box binding protein associated factor 11 like 2 [Gene - HGNC]
  • TAF11L3:TATA-box binding protein associated factor 11 like 3 [Gene - HGNC]
  • TAF11L4:TATA-box binding protein associated factor 11 like 4 [Gene - HGNC]
  • TAF11L5:TATA-box binding protein associated factor 11 like 5 [Gene - HGNC]
  • TAF11L6:TATA-box binding protein associated factor 11 like 6 [Gene - HGNC]
  • TAF11L7:TATA-box binding protein associated factor 11 like 7 [Gene - HGNC]
  • TAF11L8:TATA-box binding protein associated factor 11 like 8 [Gene - HGNC]
  • TAF11L9:TATA-box binding protein associated factor 11 like 9 [Gene - HGNC]
  • BASP1:brain abundant membrane attached signal protein 1 [Gene - OMIM - HGNC]
  • LINC02111:long intergenic non-protein coding RNA 2111 [Gene - HGNC]
  • LINC02217:long intergenic non-protein coding RNA 2217 [Gene - HGNC]
  • LINC02218:long intergenic non-protein coding RNA 2218 [Gene - HGNC]
  • LINC02223:long intergenic non-protein coding RNA 2223 [Gene - HGNC]
  • MIR10522:microRNA 10522 [Gene - HGNC]
  • MYO10:myosin X [Gene - OMIM - HGNC]
  • RETREG1:reticulophagy regulator 1 [Gene - OMIM - HGNC]
  • ZNF622:zinc finger protein 622 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
5p15.1-14.3
Genomic location:
Preferred name:
GRCh38/hg38 5p15.1-14.3(chr5:16456444-18561765)x1
HGVS:
  • NC_000005.10:g.(?_16456444)_(18561765_?)del
  • NC_000005.8:g.(?_16509553)_(18597631_?)del
  • NC_000005.9:g.(?_16456553)_(18561874_?)del
Links:
dbVar: nssv1609616; dbVar: nsv931596
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
SCV000181094ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Dec 10, 2012) 		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, SCV000181094.4

#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