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GRCh38/hg38 16p13.3(chr16:3303551-3965374)x3 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 4, 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:
RCV000138346.5

Allele description [Variation Report for GRCh38/hg38 16p13.3(chr16:3303551-3965374)x3]

GRCh38/hg38 16p13.3(chr16:3303551-3965374)x3

Genes:
  • LOC130058337:ATAC-STARR-seq lymphoblastoid active region 10322 [Gene]
  • LOC130058339:ATAC-STARR-seq lymphoblastoid active region 10323 [Gene]
  • LOC130058340:ATAC-STARR-seq lymphoblastoid active region 10324 [Gene]
  • LOC130058341:ATAC-STARR-seq lymphoblastoid active region 10325 [Gene]
  • LOC130058342:ATAC-STARR-seq lymphoblastoid active region 10326 [Gene]
  • LOC130058343:ATAC-STARR-seq lymphoblastoid active region 10327 [Gene]
  • LOC130058344:ATAC-STARR-seq lymphoblastoid active region 10328 [Gene]
  • LOC130058346:ATAC-STARR-seq lymphoblastoid active region 10329 [Gene]
  • LOC130058348:ATAC-STARR-seq lymphoblastoid active region 10330 [Gene]
  • LOC130058349:ATAC-STARR-seq lymphoblastoid active region 10331 [Gene]
  • LOC130058350:ATAC-STARR-seq lymphoblastoid active region 10332 [Gene]
  • LOC130058353:ATAC-STARR-seq lymphoblastoid active region 10333 [Gene]
  • LOC130058354:ATAC-STARR-seq lymphoblastoid active region 10334 [Gene]
  • LOC130058355:ATAC-STARR-seq lymphoblastoid active region 10335 [Gene]
  • LOC130058335:ATAC-STARR-seq lymphoblastoid silent region 7133 [Gene]
  • LOC130058336:ATAC-STARR-seq lymphoblastoid silent region 7134 [Gene]
  • LOC130058338:ATAC-STARR-seq lymphoblastoid silent region 7135 [Gene]
  • LOC130058345:ATAC-STARR-seq lymphoblastoid silent region 7136 [Gene]
  • LOC130058347:ATAC-STARR-seq lymphoblastoid silent region 7137 [Gene]
  • LOC130058351:ATAC-STARR-seq lymphoblastoid silent region 7138 [Gene]
  • LOC130058352:ATAC-STARR-seq lymphoblastoid silent region 7139 [Gene]
  • LOC130058356:ATAC-STARR-seq lymphoblastoid silent region 7140 [Gene]
  • LOC130058357:ATAC-STARR-seq lymphoblastoid silent region 7141 [Gene]
  • LOC130058358:ATAC-STARR-seq lymphoblastoid silent region 7142 [Gene]
  • LOC126862265:BRD4-independent group 4 enhancer GRCh37_chr16:3414288-3415487 [Gene]
  • CREBBP:CREB binding protein [Gene - OMIM - HGNC]
  • MTRNR2L4:MT-RNR2 like 4 [Gene - HGNC]
  • NAA60:N-alpha-acetyltransferase 60, NatF catalytic subunit [Gene - OMIM - HGNC]
  • NLRC3:NLR family CARD domain containing 3 [Gene - OMIM - HGNC]
  • LOC132090374:Neanderthal introgressed variant-containing enhancer experimental_43334 [Gene]
  • LOC132090375:Neanderthal introgressed variant-containing enhancer experimental_43335 [Gene]
  • LOC132090376:Neanderthal introgressed variant-containing enhancer experimental_43338 [Gene]
  • LOC132090377:Neanderthal introgressed variant-containing enhancer experimental_43345 [Gene]
  • LOC132090378:Neanderthal introgressed variant-containing enhancer experimental_43346 [Gene]
  • LOC132211111:Neanderthal introgressed variant-containing enhancers experimental_43328 and experimental_43330 [Gene]
  • SLX4:SLX4 structure-specific endonuclease subunit [Gene - OMIM - HGNC]
  • LOC121847968:Sharpr-MPRA regulatory region 11363 [Gene]
  • LOC125146382:Sharpr-MPRA regulatory region 1734 [Gene]
  • LOC125146381:Sharpr-MPRA regulatory region 6998 [Gene]
  • TRAP1:TNF receptor associated protein 1 [Gene - OMIM - HGNC]
  • ADCY9:adenylate cyclase 9 [Gene - OMIM - HGNC]
  • C16orf90:chromosome 16 open reading frame 90 [Gene - HGNC]
  • CLUAP1:clusterin associated protein 1 [Gene - OMIM - HGNC]
  • DNASE1:deoxyribonuclease 1 [Gene - OMIM - HGNC]
  • LINC02861:long intergenic non-protein coding RNA 2861 [Gene - HGNC]
  • MIR6126:microRNA 6126 [Gene - HGNC]
  • OR2C1:olfactory receptor family 2 subfamily C member 1 [Gene - HGNC]
  • TIGD7:tigger transposable element derived 7 [Gene - OMIM - HGNC]
  • ZSCAN32:zinc finger and SCAN domain containing 32 [Gene - HGNC]
  • ZNF174:zinc finger protein 174 [Gene - OMIM - HGNC]
  • ZNF597:zinc finger protein 597 [Gene - OMIM - HGNC]
  • ZNF75A:zinc finger protein 75A [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
GRCh38/hg38 16p13.3(chr16:3303551-3965374)x3
HGVS:
  • NC_000016.10:g.(?_3303551)_(3965374_?)dup
  • NC_000016.8:g.(?_3293552)_(3955376_?)dup
  • NC_000016.9:g.(?_3353551)_(4015375_?)dup
Links:
dbVar: nssv1601480; dbVar: nsv915554
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
SCV000178629ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Sep 4, 2012) 		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, SCV000178629.4

#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