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GRCh38/hg38 5p15.33(chr5:629340-820360)x1 AND See cases

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 30, 2009
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:
RCV000050363.8

Allele description [Variation Report for GRCh38/hg38 5p15.33(chr5:629340-820360)x1]

GRCh38/hg38 5p15.33(chr5:629340-820360)x1

Genes:
  • LOC129993565:ATAC-STARR-seq lymphoblastoid active region 22299 [Gene]
  • LOC129993566:ATAC-STARR-seq lymphoblastoid active region 22300 [Gene]
  • LOC129993567:ATAC-STARR-seq lymphoblastoid active region 22301 [Gene]
  • LOC129993564:ATAC-STARR-seq lymphoblastoid silent region 15876 [Gene]
  • LOC132089290:Neanderthal introgressed variant-containing enhancer experimental_86736 [Gene]
  • LOC132089291:Neanderthal introgressed variant-containing enhancer experimental_86741 [Gene]
  • LOC132089292:Neanderthal introgressed variant-containing enhancer experimental_86745 [Gene]
  • LOC132090722:Neanderthal introgressed variant-containing enhancer experimental_86749/86750 [Gene]
  • LOC132089293:Neanderthal introgressed variant-containing enhancer experimental_86753 [Gene]
  • LOC132089294:Neanderthal introgressed variant-containing enhancer experimental_86779 [Gene]
  • LOC132089295:Neanderthal introgressed variant-containing enhancer experimental_86783 [Gene]
  • LOC132089296:Neanderthal introgressed variant-containing enhancer experimental_86799 [Gene]
  • LOC132089297:Neanderthal introgressed variant-containing enhancer experimental_86803 [Gene]
  • LOC132089298:Neanderthal introgressed variant-containing enhancer experimental_86807 [Gene]
  • LOC132089299:Neanderthal introgressed variant-containing enhancer experimental_86811 [Gene]
  • LOC132089300:Neanderthal introgressed variant-containing enhancer experimental_86819 [Gene]
  • LOC132089301:Neanderthal introgressed variant-containing enhancer experimental_86831 [Gene]
  • LOC132089302:Neanderthal introgressed variant-containing enhancer experimental_86835 [Gene]
  • LOC132090723:Neanderthal introgressed variant-containing enhancer experimental_86841/86842 [Gene]
  • LOC132089303:Neanderthal introgressed variant-containing enhancer experimental_86882 [Gene]
  • LOC132205959:Neanderthal introgressed variant-containing enhancers experimental_86823 and experimental_86827 [Gene]
  • CEP72:centrosomal protein 72 [Gene - OMIM - HGNC]
  • TPPP:tubulin polymerization promoting protein [Gene - OMIM - HGNC]
  • ZDHHC11:zinc finger DHHC-type containing 11 [Gene - HGNC]
  • ZDHHC11B:zinc finger DHHC-type containing 11B [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
5p15.33
Genomic location:
Preferred name:
GRCh38/hg38 5p15.33(chr5:629340-820360)x1
HGVS:
  • NC_000005.10:g.(?_629340)_(820360_?)del
  • NC_000005.8:g.(?_682455)_(873475_?)del
  • NC_000005.9:g.(?_629455)_(820475_?)del
Links:
dbVar: nssv576789; dbVar: nsv491918
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
SCV000173253ISCA site 4

See additional submitters

no assertion criteria provided
Benign
(Dec 30, 2009) 		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 4, SCV000173253.3

#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