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GRCh38/hg38 16p12.1-11.2(chr16:28392832-29342070)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 11, 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:
RCV000137949.7

Allele description [Variation Report for GRCh38/hg38 16p12.1-11.2(chr16:28392832-29342070)x1]

GRCh38/hg38 16p12.1-11.2(chr16:28392832-29342070)x1

Genes:
  • LOC130058728:ATAC-STARR-seq lymphoblastoid active region 10641 [Gene]
  • LOC130058729:ATAC-STARR-seq lymphoblastoid active region 10642 [Gene]
  • LOC130058731:ATAC-STARR-seq lymphoblastoid active region 10643 [Gene]
  • LOC130058735:ATAC-STARR-seq lymphoblastoid active region 10645 [Gene]
  • LOC130058736:ATAC-STARR-seq lymphoblastoid active region 10646 [Gene]
  • LOC130058738:ATAC-STARR-seq lymphoblastoid active region 10648 [Gene]
  • LOC130058739:ATAC-STARR-seq lymphoblastoid active region 10649 [Gene]
  • LOC130058742:ATAC-STARR-seq lymphoblastoid active region 10650 [Gene]
  • LOC130058743:ATAC-STARR-seq lymphoblastoid active region 10651 [Gene]
  • LOC130058746:ATAC-STARR-seq lymphoblastoid active region 10652 [Gene]
  • LOC130058747:ATAC-STARR-seq lymphoblastoid active region 10653 [Gene]
  • LOC130058748:ATAC-STARR-seq lymphoblastoid active region 10654 [Gene]
  • LOC130058754:ATAC-STARR-seq lymphoblastoid active region 10655 [Gene]
  • LOC130058755:ATAC-STARR-seq lymphoblastoid active region 10656 [Gene]
  • LOC130058726:ATAC-STARR-seq lymphoblastoid silent region 7308 [Gene]
  • LOC130058727:ATAC-STARR-seq lymphoblastoid silent region 7309 [Gene]
  • LOC130058730:ATAC-STARR-seq lymphoblastoid silent region 7310 [Gene]
  • LOC130058732:ATAC-STARR-seq lymphoblastoid silent region 7311 [Gene]
  • LOC130058733:ATAC-STARR-seq lymphoblastoid silent region 7312 [Gene]
  • LOC130058734:ATAC-STARR-seq lymphoblastoid silent region 7313 [Gene]
  • LOC130058737:ATAC-STARR-seq lymphoblastoid silent region 7314 [Gene]
  • LOC130058740:ATAC-STARR-seq lymphoblastoid silent region 7315 [Gene]
  • LOC130058741:ATAC-STARR-seq lymphoblastoid silent region 7316 [Gene]
  • LOC130058744:ATAC-STARR-seq lymphoblastoid silent region 7317 [Gene]
  • LOC130058745:ATAC-STARR-seq lymphoblastoid silent region 7318 [Gene]
  • LOC130058749:ATAC-STARR-seq lymphoblastoid silent region 7321 [Gene]
  • LOC130058750:ATAC-STARR-seq lymphoblastoid silent region 7322 [Gene]
  • LOC130058751:ATAC-STARR-seq lymphoblastoid silent region 7323 [Gene]
  • LOC130058752:ATAC-STARR-seq lymphoblastoid silent region 7324 [Gene]
  • LOC130058753:ATAC-STARR-seq lymphoblastoid silent region 7325 [Gene]
  • ATP2A1-AS1:ATP2A1 antisense RNA 1 [Gene - HGNC]
  • ATP2A1:ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 [Gene - OMIM - HGNC]
  • CD19:CD19 molecule [Gene - OMIM - HGNC]
  • CLN3:CLN3 lysosomal/endosomal transmembrane protein, battenin [Gene - OMIM - HGNC]
  • LOC126862326:MED14-independent group 3 enhancer GRCh37_chr16:28549089-28550288 [Gene]
  • LOC129390780:MPRA-validated peak2552 silencer [Gene]
  • LOC129390781:MPRA-validated peak2553 silencer [Gene]
  • LOC129390782:MPRA-validated peak2554 silencer [Gene]
  • NFATC2IP-AS1:NFATC2IP antisense RNA 1 [Gene - HGNC]
  • LOC126862327:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:29166386-29167585 [Gene]
  • LOC126862328:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:29196056-29197255 [Gene]
  • LOC108281183:RRN3P2-SNX29P2 intergenic nontranscribed DNase I hypersensitive site-defined enhancer [Gene]
  • SGF29:SAGA complex associated factor 29 [Gene - OMIM - HGNC]
  • SH2B1:SH2B adaptor protein 1 [Gene - OMIM - HGNC]
  • SPNS1:SPNS lysolipid transporter 1, lysophospholipid [Gene - OMIM - HGNC]
  • LOC112340393:Sharpr-MPRA regulatory region 4004 [Gene]
  • LOC125146437:Sharpr-MPRA regulatory region 414 [Gene]
  • LOC112340392:Sharpr-MPRA regulatory region 4245 [Gene]
  • LOC125146438:Sharpr-MPRA regulatory region 8859 [Gene]
  • TUFM:Tu translation elongation factor, mitochondrial [Gene - OMIM - HGNC]
  • APOBR:apolipoprotein B receptor [Gene - OMIM - HGNC]
  • ATXN2L:ataxin 2 like [Gene - OMIM - HGNC]
  • EIF3CL:eukaryotic translation initiation factor 3 subunit C like [Gene - HGNC]
  • EIF3C:eukaryotic translation initiation factor 3 subunit C [Gene - OMIM - HGNC]
  • IL27:interleukin 27 [Gene - OMIM - HGNC]
  • LAT:linker for activation of T cells [Gene - OMIM - HGNC]
  • MIR4517:microRNA 4517 [Gene - HGNC]
  • MIR4721:microRNA 4721 [Gene - HGNC]
  • MIR6862-2:microRNA 6862-2 [Gene - HGNC]
  • NFATC2IP:nuclear factor of activated T cells 2 interacting protein [Gene - OMIM - HGNC]
  • NPIPB7:nuclear pore complex interacting protein family member B7 [Gene - HGNC]
  • NPIPB8:nuclear pore complex interacting protein family member B8 [Gene - HGNC]
  • NPIPB9:nuclear pore complex interacting protein family member B9 [Gene - HGNC]
  • NUPR1:nuclear protein 1, transcriptional regulator [Gene - OMIM - HGNC]
  • RABEP2:rabaptin, RAB GTPase binding effector protein 2 [Gene - OMIM - HGNC]
  • SULT1A1:sulfotransferase family 1A member 1 [Gene - OMIM - HGNC]
  • SULT1A2:sulfotransferase family 1A member 2 [Gene - OMIM - HGNC]
  • LOC101928188:uncharacterized LOC101928188 [Gene]
  • LOC102723708:uncharacterized LOC102723708 [Gene]
Variant type:
copy number loss
Cytogenetic location:
16p12.1-11.2
Genomic location:
Preferred name:
GRCh38/hg38 16p12.1-11.2(chr16:28392832-29342070)x1
HGVS:
  • NC_000016.10:g.(?_28392832)_(29342070_?)del
  • NC_000016.8:g.(?_28311654)_(29260892_?)del
  • NC_000016.9:g.(?_28404153)_(29353391_?)del
Links:
dbVar: nssv1495007; dbVar: nsv869136
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
SCV000178207ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Nov 11, 2011) 		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 1, SCV000178207.4

#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