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GRCh38/hg38 16q23.1(chr16:74207339-74862823)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 21, 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:
RCV000139276.5

Allele description [Variation Report for GRCh38/hg38 16q23.1(chr16:74207339-74862823)x1]

GRCh38/hg38 16q23.1(chr16:74207339-74862823)x1

Genes:
  • LOC130059386:ATAC-STARR-seq lymphoblastoid active region 11107 [Gene]
  • LOC130059390:ATAC-STARR-seq lymphoblastoid active region 11108 [Gene]
  • LOC130059391:ATAC-STARR-seq lymphoblastoid active region 11109 [Gene]
  • LOC130059392:ATAC-STARR-seq lymphoblastoid active region 11110 [Gene]
  • LOC130059387:ATAC-STARR-seq lymphoblastoid silent region 7697 [Gene]
  • LOC130059388:ATAC-STARR-seq lymphoblastoid silent region 7698 [Gene]
  • LOC130059389:ATAC-STARR-seq lymphoblastoid silent region 7699 [Gene]
  • LOC130059393:ATAC-STARR-seq lymphoblastoid silent region 7700 [Gene]
  • LOC130059394:ATAC-STARR-seq lymphoblastoid silent region 7701 [Gene]
  • LOC130059395:ATAC-STARR-seq lymphoblastoid silent region 7702 [Gene]
  • LOC130059396:ATAC-STARR-seq lymphoblastoid silent region 7703 [Gene]
  • LOC126862399:BRD4-independent group 4 enhancer GRCh37_chr16:74793901-74795100 [Gene]
  • CLEC18B:C-type lectin domain family 18 member B [Gene - OMIM - HGNC]
  • LOC126862398:MED14-independent group 3 enhancer GRCh37_chr16:74496013-74497212 [Gene]
  • LOC129390810:MPRA-validated peak2638 silencer [Gene]
  • LOC132090400:Neanderthal introgressed variant-containing enhancer experimental_44395 [Gene]
  • PSMD7-DT:PSMD7 divergent transcript [Gene - HGNC]
  • FA2H:fatty acid 2-hydroxylase [Gene - OMIM - HGNC]
  • GLG1:golgi glycoprotein 1 [Gene - OMIM - HGNC]
  • MLKL:mixed lineage kinase domain like pseudokinase [Gene - OMIM - HGNC]
  • NPIPB15:nuclear pore complex interacting protein family member B15 [Gene - HGNC]
  • PCHILR:prostate cancer associated HIP1 interacting lncRNA [Gene - HGNC]
  • PSMD7:proteasome 26S subunit, non-ATPase 7 [Gene - OMIM - HGNC]
  • RFWD3:ring finger and WD repeat domain 3 [Gene - OMIM - HGNC]
  • LOC105376772:uncharacterized LOC105376772 [Gene]
Variant type:
copy number loss
Cytogenetic location:
16q23.1
Genomic location:
Preferred name:
GRCh38/hg38 16q23.1(chr16:74207339-74862823)x1
HGVS:
  • NC_000016.10:g.(?_74207339)_(74862823_?)del
  • NC_000016.8:g.(?_72798739)_(73454222_?)del
  • NC_000016.9:g.(?_74241238)_(74896721_?)del
Links:
dbVar: nssv1603533; dbVar: nsv916687
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
SCV000179799ISCA site 4

See additional submitters

no assertion criteria provided
Uncertain significance
(Sep 21, 2012) 		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, SCV000179799.3

#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