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GRCh38/hg38 20q11.23-12(chr20:38912733-39376861)x1 AND See cases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 7, 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:
RCV000137608.5

Allele description [Variation Report for GRCh38/hg38 20q11.23-12(chr20:38912733-39376861)x1]

GRCh38/hg38 20q11.23-12(chr20:38912733-39376861)x1

Genes:
  • LOC130065865:ATAC-STARR-seq lymphoblastoid active region 17875 [Gene]
  • LOC130065866:ATAC-STARR-seq lymphoblastoid active region 17876 [Gene]
  • LOC130065868:ATAC-STARR-seq lymphoblastoid active region 17877 [Gene]
  • LOC130065869:ATAC-STARR-seq lymphoblastoid active region 17878 [Gene]
  • LOC130065864:ATAC-STARR-seq lymphoblastoid silent region 12907 [Gene]
  • LOC130065867:ATAC-STARR-seq lymphoblastoid silent region 12908 [Gene]
  • LOC126863027:BRD4-independent group 4 enhancer GRCh37_chr20:37736157-37737356 [Gene]
  • DHX35:DEAH-box helicase 35 [Gene - HGNC]
  • LOC129391176:MPRA-validated peak4214 silencer [Gene]
  • LOC112694710:Sharpr-MPRA regulatory region 15217 [Gene]
  • LOC110121317:VISTA enhancer hs1042 [Gene]
  • FAM83D:family with sequence similarity 83 member D [Gene - OMIM - HGNC]
  • LINC01734:long intergenic non-protein coding RNA 1734 [Gene - HGNC]
  • PPP1R16B:protein phosphatase 1 regulatory subunit 16B [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
20q11.23-12
Genomic location:
Preferred name:
GRCh38/hg38 20q11.23-12(chr20:38912733-39376861)x1
HGVS:
  • NC_000020.11:g.(?_38912733)_(39376861_?)del
  • NC_000020.10:g.(?_37541376)_(38005504_?)del
  • NC_000020.9:g.(?_36974790)_(37438918_?)del
Links:
dbVar: nssv1415528; dbVar: nsv817556
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
SCV000177840ISCA site 1

See additional submitters

no assertion criteria provided
Likely benign
(Oct 7, 2011) 		paternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not 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, SCV000177840.4

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

Last Updated: May 7, 2024