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GRCh38/hg38 5p13.1-12(chr5:41901984-42896060)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 30, 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:
RCV000134081.5

Allele description [Variation Report for GRCh38/hg38 5p13.1-12(chr5:41901984-42896060)x1]

GRCh38/hg38 5p13.1-12(chr5:41901984-42896060)x1

Genes:
  • LOC129993842:ATAC-STARR-seq lymphoblastoid active region 22508 [Gene]
  • LOC129993843:ATAC-STARR-seq lymphoblastoid active region 22510 [Gene]
  • LOC129993844:ATAC-STARR-seq lymphoblastoid silent region 15986 [Gene]
  • FBXO4:F-box protein 4 [Gene - OMIM - HGNC]
  • LOC107963949:GHR downstream promoter region module B [Gene]
  • LOC107963950:GHR upstream promoter region module A [Gene]
  • LOC126807377:MED14-independent group 3 enhancer GRCh37_chr5:42886955-42888154 [Gene]
  • LOC129389281:MPRA-validated peak5238 silencer [Gene]
  • LOC132089254:Neanderthal introgressed variant-containing enhancer experimental_85089 [Gene]
  • LOC132089255:Neanderthal introgressed variant-containing enhancer experimental_85146 [Gene]
  • LOC132089256:Neanderthal introgressed variant-containing enhancer experimental_85179 [Gene]
  • LOC126807376:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:42090075-42091274 [Gene]
  • RIMOC1:RAB7A interacting MON1-CCZ1 complex subunit 1 [Gene - OMIM - HGNC]
  • LOC123493301:Sharpr-MPRA regulatory region 10845 [Gene]
  • CCDC152:coiled-coil domain containing 152 [Gene - HGNC]
  • GHR:growth hormone receptor [Gene - OMIM - HGNC]
  • LINC02996:long intergenic non-protein coding RNA 2996 [Gene - HGNC]
  • SELENOP:selenoprotein P [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
5p13.1-12
Genomic location:
Preferred name:
GRCh38/hg38 5p13.1-12(chr5:41901984-42896060)x1
HGVS:
  • NC_000005.10:g.(?_41901984)_(42896060_?)del
  • NC_000005.8:g.(?_41937843)_(42931919_?)del
  • NC_000005.9:g.(?_41902086)_(42896162_?)del
Links:
dbVar: nssv576127; dbVar: nsv492147
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
SCV000173528ISCA site 4

See additional submitters

no assertion criteria provided
Pathogenic
(May 30, 2010) 		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, SCV000173528.3

#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