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GRCh38/hg38 16q22.1(chr16:66921669-67312444)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 22, 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:
RCV000142764.5

Allele description [Variation Report for GRCh38/hg38 16q22.1(chr16:66921669-67312444)x3]

GRCh38/hg38 16q22.1(chr16:66921669-67312444)x3

Genes:
  • LOC130059167:ATAC-STARR-seq lymphoblastoid active region 10945 [Gene]
  • LOC130059168:ATAC-STARR-seq lymphoblastoid active region 10946 [Gene]
  • LOC130059170:ATAC-STARR-seq lymphoblastoid active region 10947 [Gene]
  • LOC130059171:ATAC-STARR-seq lymphoblastoid active region 10948 [Gene]
  • LOC130059173:ATAC-STARR-seq lymphoblastoid active region 10951 [Gene]
  • LOC130059180:ATAC-STARR-seq lymphoblastoid active region 10952 [Gene]
  • LOC130059183:ATAC-STARR-seq lymphoblastoid active region 10954 [Gene]
  • LOC130059184:ATAC-STARR-seq lymphoblastoid active region 10955 [Gene]
  • LOC130059186:ATAC-STARR-seq lymphoblastoid active region 10956 [Gene]
  • LOC130059187:ATAC-STARR-seq lymphoblastoid active region 10958 [Gene]
  • LOC130059189:ATAC-STARR-seq lymphoblastoid active region 10959 [Gene]
  • LOC130059191:ATAC-STARR-seq lymphoblastoid active region 10960 [Gene]
  • LOC130059192:ATAC-STARR-seq lymphoblastoid active region 10961 [Gene]
  • LOC130059193:ATAC-STARR-seq lymphoblastoid active region 10962 [Gene]
  • LOC130059199:ATAC-STARR-seq lymphoblastoid active region 10963 [Gene]
  • LOC130059165:ATAC-STARR-seq lymphoblastoid silent region 7571 [Gene]
  • LOC130059166:ATAC-STARR-seq lymphoblastoid silent region 7572 [Gene]
  • LOC130059169:ATAC-STARR-seq lymphoblastoid silent region 7573 [Gene]
  • LOC130059172:ATAC-STARR-seq lymphoblastoid silent region 7575 [Gene]
  • LOC130059174:ATAC-STARR-seq lymphoblastoid silent region 7576 [Gene]
  • LOC130059175:ATAC-STARR-seq lymphoblastoid silent region 7577 [Gene]
  • LOC130059176:ATAC-STARR-seq lymphoblastoid silent region 7578 [Gene]
  • LOC130059177:ATAC-STARR-seq lymphoblastoid silent region 7580 [Gene]
  • LOC130059178:ATAC-STARR-seq lymphoblastoid silent region 7581 [Gene]
  • LOC130059179:ATAC-STARR-seq lymphoblastoid silent region 7582 [Gene]
  • LOC130059181:ATAC-STARR-seq lymphoblastoid silent region 7584 [Gene]
  • LOC130059182:ATAC-STARR-seq lymphoblastoid silent region 7585 [Gene]
  • LOC130059185:ATAC-STARR-seq lymphoblastoid silent region 7588 [Gene]
  • LOC130059188:ATAC-STARR-seq lymphoblastoid silent region 7593 [Gene]
  • LOC130059190:ATAC-STARR-seq lymphoblastoid silent region 7594 [Gene]
  • LOC130059194:ATAC-STARR-seq lymphoblastoid silent region 7595 [Gene]
  • LOC130059195:ATAC-STARR-seq lymphoblastoid silent region 7596 [Gene]
  • LOC130059196:ATAC-STARR-seq lymphoblastoid silent region 7597 [Gene]
  • LOC130059197:ATAC-STARR-seq lymphoblastoid silent region 7598 [Gene]
  • LOC130059198:ATAC-STARR-seq lymphoblastoid silent region 7600 [Gene]
  • LOC126862377:BRD4-independent group 4 enhancer GRCh37_chr16:67004920-67006119 [Gene]
  • LOC126862378:BRD4-independent group 4 enhancer GRCh37_chr16:67271286-67272485 [Gene]
  • E2F4:E2F transcription factor 4 [Gene - OMIM - HGNC]
  • FBXL8:F-box and leucine rich repeat protein 8 [Gene - OMIM - HGNC]
  • LOC126862376:MED14-independent group 3 enhancer GRCh37_chr16:66975020-66976219 [Gene]
  • LOC129390803:MPRA-validated peak2620 silencer [Gene]
  • LOC129390804:MPRA-validated peak2621 silencer [Gene]
  • LOC126862375:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:66961058-66962257 [Gene]
  • RRAD:RRAD, Ras related glycolysis inhibitor and calcium channel regulator [Gene - OMIM - HGNC]
  • LOC125177334:Sharpr-MPRA regulatory region 11796 [Gene]
  • LOC125177333:Sharpr-MPRA regulatory region 2980 [Gene]
  • LOC112469016:Sharpr-MPRA regulatory region 4953 [Gene]
  • TRADD:TNFRSF1A associated via death domain [Gene - OMIM - HGNC]
  • B3GNT9:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 [Gene - HGNC]
  • CES2:carboxylesterase 2 [Gene - OMIM - HGNC]
  • CES3:carboxylesterase 3 [Gene - OMIM - HGNC]
  • CES4A:carboxylesterase 4A [Gene - HGNC]
  • CBFB:core-binding factor subunit beta [Gene - OMIM - HGNC]
  • CIAO2B:cytosolic iron-sulfur assembly component 2B [Gene - OMIM - HGNC]
  • ELMO3:engulfment and cell motility 3 [Gene - OMIM - HGNC]
  • EXOC3L1:exocyst complex component 3 like 1 [Gene - OMIM - HGNC]
  • FHOD1:formin homology 2 domain containing 1 [Gene - OMIM - HGNC]
  • HSF4:heat shock transcription factor 4 [Gene - OMIM - HGNC]
  • LRRC29:leucine rich repeat containing 29 [Gene - HGNC]
  • MIR328:microRNA 328 [Gene - OMIM - HGNC]
  • MATCAP1:microtubule associated tyrosine carboxypeptidase 1 [Gene - OMIM - HGNC]
  • NOL3:nucleolar protein 3 [Gene - OMIM - HGNC]
  • PHAF1:phagosome assembly factor 1 [Gene - HGNC]
  • PLEKHG4:pleckstrin homology and RhoGEF domain containing G4 [Gene - OMIM - HGNC]
  • KCTD19:potassium channel tetramerization domain containing 19 [Gene - OMIM - HGNC]
  • SLC9A5:solute carrier family 9 member A5 [Gene - OMIM - HGNC]
  • TMEM208:transmembrane protein 208 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
16q22.1
Genomic location:
Preferred name:
GRCh38/hg38 16q22.1(chr16:66921669-67312444)x3
HGVS:
  • NC_000016.10:g.(?_66921669)_(67312444_?)dup
  • NC_000016.8:g.(?_65513073)_(65903848_?)dup
  • NC_000016.9:g.(?_66955572)_(67346347_?)dup
Links:
dbVar: nssv583095; dbVar: nsv534507
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
SCV000177284ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Dec 22, 2010) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot 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 1, SCV000177284.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024