U.S. flag

An official website of the United States government

GRCh38/hg38 16q22.3-23.1(chr16:73917167-75319927)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000053868.5

Allele description [Variation Report for GRCh38/hg38 16q22.3-23.1(chr16:73917167-75319927)x3]

GRCh38/hg38 16q22.3-23.1(chr16:73917167-75319927)x3

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]
  • LOC130059397:ATAC-STARR-seq lymphoblastoid active region 11111 [Gene]
  • LOC130059399:ATAC-STARR-seq lymphoblastoid active region 11112 [Gene]
  • LOC130059402:ATAC-STARR-seq lymphoblastoid active region 11113 [Gene]
  • LOC130059403:ATAC-STARR-seq lymphoblastoid active region 11114 [Gene]
  • LOC130059404:ATAC-STARR-seq lymphoblastoid active region 11115 [Gene]
  • LOC130059405:ATAC-STARR-seq lymphoblastoid active region 11116 [Gene]
  • LOC130059406:ATAC-STARR-seq lymphoblastoid active region 11117 [Gene]
  • LOC130059407:ATAC-STARR-seq lymphoblastoid active region 11119 [Gene]
  • LOC130059410:ATAC-STARR-seq lymphoblastoid active region 11120 [Gene]
  • LOC130059411:ATAC-STARR-seq lymphoblastoid active region 11121 [Gene]
  • LOC130059412:ATAC-STARR-seq lymphoblastoid active region 11122 [Gene]
  • LOC130059413:ATAC-STARR-seq lymphoblastoid active region 11123 [Gene]
  • LOC130059415:ATAC-STARR-seq lymphoblastoid active region 11124 [Gene]
  • LOC130059417:ATAC-STARR-seq lymphoblastoid active region 11125 [Gene]
  • LOC130059419:ATAC-STARR-seq lymphoblastoid active region 11126 [Gene]
  • LOC130059427:ATAC-STARR-seq lymphoblastoid active region 11127 [Gene]
  • LOC130059428:ATAC-STARR-seq lymphoblastoid active region 11128 [Gene]
  • LOC130059385:ATAC-STARR-seq lymphoblastoid silent region 7695 [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]
  • LOC130059398:ATAC-STARR-seq lymphoblastoid silent region 7704 [Gene]
  • LOC130059400:ATAC-STARR-seq lymphoblastoid silent region 7705 [Gene]
  • LOC130059401:ATAC-STARR-seq lymphoblastoid silent region 7706 [Gene]
  • LOC130059408:ATAC-STARR-seq lymphoblastoid silent region 7707 [Gene]
  • LOC130059409:ATAC-STARR-seq lymphoblastoid silent region 7708 [Gene]
  • LOC130059414:ATAC-STARR-seq lymphoblastoid silent region 7709 [Gene]
  • LOC130059416:ATAC-STARR-seq lymphoblastoid silent region 7710 [Gene]
  • LOC130059418:ATAC-STARR-seq lymphoblastoid silent region 7711 [Gene]
  • LOC130059420:ATAC-STARR-seq lymphoblastoid silent region 7712 [Gene]
  • LOC130059421:ATAC-STARR-seq lymphoblastoid silent region 7713 [Gene]
  • LOC130059422:ATAC-STARR-seq lymphoblastoid silent region 7714 [Gene]
  • LOC130059423:ATAC-STARR-seq lymphoblastoid silent region 7715 [Gene]
  • LOC130059424:ATAC-STARR-seq lymphoblastoid silent region 7716 [Gene]
  • LOC130059425:ATAC-STARR-seq lymphoblastoid silent region 7717 [Gene]
  • LOC130059426:ATAC-STARR-seq lymphoblastoid silent region 7718 [Gene]
  • BCAR1:BCAR1 scaffold protein, Cas family member [Gene - OMIM - HGNC]
  • LOC126862399:BRD4-independent group 4 enhancer GRCh37_chr16:74793901-74795100 [Gene]
  • CLEC18B:C-type lectin domain family 18 member B [Gene - OMIM - HGNC]
  • LOC126862400:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:75095860-75097059 [Gene]
  • LOC126862397:MED14-independent group 3 enhancer GRCh37_chr16:73951504-73952703 [Gene]
  • LOC126862398:MED14-independent group 3 enhancer GRCh37_chr16:74496013-74497212 [Gene]
  • LOC126862401:MED14-independent group 3 enhancer GRCh37_chr16:75339050-75340249 [Gene]
  • LOC129390809:MPRA-validated peak2636 silencer [Gene]
  • LOC129390810:MPRA-validated peak2638 silencer [Gene]
  • LOC132090400:Neanderthal introgressed variant-containing enhancer experimental_44395 [Gene]
  • LOC132090401:Neanderthal introgressed variant-containing enhancer experimental_44438 [Gene]
  • PSMD7-DT:PSMD7 divergent transcript [Gene - HGNC]
  • LOC112486207:Sharpr-MPRA regulatory region 10346 [Gene]
  • LOC125177350:Sharpr-MPRA regulatory region 11065 [Gene]
  • LOC121847991:Sharpr-MPRA regulatory region 12749 [Gene]
  • LOC121847992:Sharpr-MPRA regulatory region 2157 [Gene]
  • LOC125177351:Sharpr-MPRA regulatory region 8667 [Gene]
  • WDR59:WD repeat domain 59 [Gene - OMIM - HGNC]
  • ZFP1:ZFP1 zinc finger protein [Gene - OMIM - HGNC]
  • CTRB1:chymotrypsinogen B1 [Gene - OMIM - HGNC]
  • CTRB2:chymotrypsinogen B2 [Gene - OMIM - HGNC]
  • CFDP1:craniofacial development protein 1 [Gene - OMIM - HGNC]
  • FA2H:fatty acid 2-hydroxylase [Gene - OMIM - HGNC]
  • GLG1:golgi glycoprotein 1 [Gene - OMIM - HGNC]
  • LDHD:lactate dehydrogenase D [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]
  • LOC100506281:uncharacterized LOC100506281 [Gene]
  • LOC105376772:uncharacterized LOC105376772 [Gene]
  • ZNRF1:zinc and ring finger 1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
16q22.3-23.1
Genomic location:
Preferred name:
GRCh38/hg38 16q22.3-23.1(chr16:73917167-75319927)x3
HGVS:
  • NC_000016.10:g.(?_73917167)_(75319927_?)dup
  • NC_000016.8:g.(?_72508567)_(73911326_?)dup
  • NC_000016.9:g.(?_73951066)_(75353825_?)dup
Links:
dbVar: nssv580899; dbVar: nsv532536
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000081231GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Uncertain significance
(Aug 12, 2011) 		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

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From GeneDx, SCV000081231.5

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

Last Updated: Oct 14, 2023