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GRCh38/hg38 16p13.11-12.3(chr16:14816348-18047194)x1 AND See cases

Germline classification:
Pathogenic (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:
RCV000050818.5

Allele description [Variation Report for GRCh38/hg38 16p13.11-12.3(chr16:14816348-18047194)x1]

GRCh38/hg38 16p13.11-12.3(chr16:14816348-18047194)x1

Genes:
  • LOC130058560:ATAC-STARR-seq lymphoblastoid active region 10499 [Gene]
  • LOC130058561:ATAC-STARR-seq lymphoblastoid active region 10500 [Gene]
  • LOC130058562:ATAC-STARR-seq lymphoblastoid active region 10501 [Gene]
  • LOC130058563:ATAC-STARR-seq lymphoblastoid active region 10502 [Gene]
  • LOC130058564:ATAC-STARR-seq lymphoblastoid active region 10503 [Gene]
  • LOC130058565:ATAC-STARR-seq lymphoblastoid active region 10504 [Gene]
  • LOC130058566:ATAC-STARR-seq lymphoblastoid active region 10505 [Gene]
  • LOC130058568:ATAC-STARR-seq lymphoblastoid active region 10506 [Gene]
  • LOC130058569:ATAC-STARR-seq lymphoblastoid active region 10507 [Gene]
  • LOC130058570:ATAC-STARR-seq lymphoblastoid active region 10508 [Gene]
  • LOC130058572:ATAC-STARR-seq lymphoblastoid active region 10509 [Gene]
  • LOC130058573:ATAC-STARR-seq lymphoblastoid active region 10510 [Gene]
  • LOC130058574:ATAC-STARR-seq lymphoblastoid active region 10511 [Gene]
  • LOC130058575:ATAC-STARR-seq lymphoblastoid active region 10512 [Gene]
  • LOC130058576:ATAC-STARR-seq lymphoblastoid active region 10513 [Gene]
  • LOC130058577:ATAC-STARR-seq lymphoblastoid active region 10514 [Gene]
  • LOC130058578:ATAC-STARR-seq lymphoblastoid active region 10515 [Gene]
  • LOC130058579:ATAC-STARR-seq lymphoblastoid active region 10516 [Gene]
  • LOC130058580:ATAC-STARR-seq lymphoblastoid active region 10517 [Gene]
  • LOC130058567:ATAC-STARR-seq lymphoblastoid silent region 7235 [Gene]
  • LOC130058571:ATAC-STARR-seq lymphoblastoid silent region 7236 [Gene]
  • ABCC1:ATP binding cassette subfamily C member 1 (ABCC1 blood group) [Gene - OMIM - HGNC]
  • ABCC6:ATP binding cassette subfamily C member 6 [Gene - OMIM - HGNC]
  • LOC121587532:BRD4-independent group 4 enhancer GRCh37_chr16:15972689-15973888 [Gene]
  • LOC126862301:BRD4-independent group 4 enhancer GRCh37_chr16:17156208-17157407 [Gene]
  • LOC126862304:BRD4-independent group 4 enhancer GRCh37_chr16:17700860-17702059 [Gene]
  • LOC126862299:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:15693082-15694281 [Gene]
  • LOC126862302:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:17498817-17500016 [Gene]
  • LOC111365165:GATA motif-containing MPRA enhancer 79/80 [Gene]
  • LOC129390770:MPRA-validated peak2507 silencer [Gene]
  • LOC129390771:MPRA-validated peak2509 silencer [Gene]
  • LOC129390772:MPRA-validated peak2513 silencer [Gene]
  • MPV17L:MPV17 mitochondrial inner membrane protein like [Gene - OMIM - HGNC]
  • MPV17L-BMERB1:MPV17L-BMERB1 readthrough [Gene]
  • NTAN1:N-terminal asparagine amidase [Gene - OMIM - HGNC]
  • NOMO1:NODAL modulator 1 [Gene - OMIM - HGNC]
  • NOMO3:NODAL modulator 3 [Gene - OMIM - HGNC]
  • LOC126862298:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:15587399-15588598 [Gene]
  • LOC121847972:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:15684383-15685582 [Gene]
  • LOC126862300:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:15993095-15994294 [Gene]
  • LOC126862303:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:17665142-17666341 [Gene]
  • LOC126862305:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:17930405-17931604 [Gene]
  • LOC131696449:PKD1P1-NPIPA5L readthrough [Gene]
  • RRN3:RRN3 homolog, RNA polymerase I transcription factor [Gene - OMIM - HGNC]
  • LOC121847973:Sharpr-MPRA regulatory region 10508 [Gene]
  • LOC112340383:Sharpr-MPRA regulatory region 11301 [Gene]
  • LOC112340381:Sharpr-MPRA regulatory region 12074 [Gene]
  • LOC112340379:Sharpr-MPRA regulatory region 1380 [Gene]
  • LOC112340378:Sharpr-MPRA regulatory region 13846 [Gene]
  • LOC125146421:Sharpr-MPRA regulatory region 15590 [Gene]
  • LOC112340377:Sharpr-MPRA regulatory region 1947 [Gene]
  • LOC125146418:Sharpr-MPRA regulatory region 4661 [Gene]
  • LOC112340382:Sharpr-MPRA regulatory region 4662 [Gene]
  • LOC113939949:Sharpr-MPRA regulatory region 5546 [Gene]
  • LOC125146419:Sharpr-MPRA regulatory region 7034 [Gene]
  • LOC125146420:Sharpr-MPRA regulatory region 7660 [Gene]
  • LOC112340380:Sharpr-MPRA regulatory region 9672 [Gene]
  • BMERB1:bMERB domain containing 1 [Gene - HGNC]
  • CEP20:centrosomal protein 20 [Gene - OMIM - HGNC]
  • MARF1:meiosis regulator and mRNA stability factor 1 [Gene - OMIM - HGNC]
  • MIR1972-1:microRNA 1972-1 [Gene - HGNC]
  • MIR3179-1:microRNA 3179-1 [Gene - HGNC]
  • MIR3179-2:microRNA 3179-2 [Gene - HGNC]
  • MIR3180-1:microRNA 3180-1 [Gene - HGNC]
  • MIR3180-2:microRNA 3180-2 [Gene - HGNC]
  • MIR3180-4:microRNA 3180-4 [Gene - HGNC]
  • MIR3670-1:microRNA 3670-1 [Gene - HGNC]
  • MIR3670-2:microRNA 3670-2 [Gene - HGNC]
  • MIR484:microRNA 484 [Gene - HGNC]
  • MIR6506:microRNA 6506 [Gene - HGNC]
  • MIR6511A1:microRNA 6511a-1 [Gene - HGNC]
  • MIR6511A2:microRNA 6511a-2 [Gene - HGNC]
  • MIR6511A3:microRNA 6511a-3 [Gene - HGNC]
  • MIR6511B2:microRNA 6511b-2 [Gene - HGNC]
  • MIR6770-1:microRNA 6770-1 [Gene - HGNC]
  • MIR6770-2:microRNA 6770-2 [Gene - HGNC]
  • MYH11:myosin heavy chain 11 [Gene - OMIM - HGNC]
  • NPIPA1:nuclear pore complex interacting protein family member A1 [Gene - OMIM - HGNC]
  • NPIPA5:nuclear pore complex interacting protein family member A5 [Gene - HGNC]
  • NPIPA7:nuclear pore complex interacting protein family member A7 [Gene - HGNC]
  • NPIPA6:nuclear pore complex interacting protein family, member A6 [Gene - HGNC]
  • NDE1:nudE neurodevelopment protein 1 [Gene - OMIM - HGNC]
  • PDXDC1:pyridoxal dependent decarboxylase domain containing 1 [Gene - OMIM - HGNC]
  • LOC100288162:uncharacterized LOC100288162 [Gene]
  • LOC100505915:uncharacterized LOC100505915 [Gene]
  • LOC102723692:uncharacterized LOC102723692 [Gene]
  • XYLT1:xylosyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
16p13.11-12.3
Genomic location:
Preferred name:
GRCh38/hg38 16p13.11-12.3(chr16:14816348-18047194)x1
HGVS:
  • NC_000016.10:g.(?_14816348)_(18047194_?)del
  • NC_000016.8:g.(?_14817706)_(18048552_?)del
  • NC_000016.9:g.(?_14910205)_(18141051_?)del
Links:
dbVar: nssv579772; dbVar: nsv529410
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
SCV000078151ISCA site 4

See additional submitters

criteria provided, single submitter

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

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 ISCA site 4, SCV000078151.4

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

Last Updated: Sep 1, 2024