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GRCh38/hg38 14q13.2-21.2(chr14:35068276-43994777)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 10, 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:
RCV000137841.4

Allele description

GRCh38/hg38 14q13.2-21.2(chr14:35068276-43994777)x1

Genes:
  • LOC130055486:ATAC-STARR-seq lymphoblastoid active region 8266 [Gene]
  • LOC130055487:ATAC-STARR-seq lymphoblastoid active region 8267 [Gene]
  • LOC130055488:ATAC-STARR-seq lymphoblastoid active region 8268 [Gene]
  • LOC130055489:ATAC-STARR-seq lymphoblastoid active region 8271 [Gene]
  • LOC130055490:ATAC-STARR-seq lymphoblastoid active region 8272 [Gene]
  • LOC130055491:ATAC-STARR-seq lymphoblastoid active region 8273 [Gene]
  • LOC130055492:ATAC-STARR-seq lymphoblastoid active region 8274 [Gene]
  • LOC130055493:ATAC-STARR-seq lymphoblastoid active region 8275 [Gene]
  • LOC130055494:ATAC-STARR-seq lymphoblastoid active region 8276 [Gene]
  • LOC130055495:ATAC-STARR-seq lymphoblastoid active region 8277 [Gene]
  • LOC130055498:ATAC-STARR-seq lymphoblastoid active region 8279 [Gene]
  • LOC130055502:ATAC-STARR-seq lymphoblastoid active region 8282 [Gene]
  • LOC130055503:ATAC-STARR-seq lymphoblastoid active region 8283 [Gene]
  • LOC130055504:ATAC-STARR-seq lymphoblastoid active region 8284 [Gene]
  • LOC130055509:ATAC-STARR-seq lymphoblastoid active region 8285 [Gene]
  • LOC130055510:ATAC-STARR-seq lymphoblastoid active region 8287 [Gene]
  • LOC130055511:ATAC-STARR-seq lymphoblastoid active region 8289 [Gene]
  • LOC130055514:ATAC-STARR-seq lymphoblastoid active region 8290 [Gene]
  • LOC130055516:ATAC-STARR-seq lymphoblastoid active region 8291 [Gene]
  • LOC130055517:ATAC-STARR-seq lymphoblastoid active region 8292 [Gene]
  • LOC130055518:ATAC-STARR-seq lymphoblastoid active region 8293 [Gene]
  • LOC130055496:ATAC-STARR-seq lymphoblastoid silent region 5675 [Gene]
  • LOC130055497:ATAC-STARR-seq lymphoblastoid silent region 5676 [Gene]
  • LOC130055499:ATAC-STARR-seq lymphoblastoid silent region 5680 [Gene]
  • LOC130055500:ATAC-STARR-seq lymphoblastoid silent region 5681 [Gene]
  • LOC130055501:ATAC-STARR-seq lymphoblastoid silent region 5682 [Gene]
  • LOC130055505:ATAC-STARR-seq lymphoblastoid silent region 5683 [Gene]
  • LOC130055506:ATAC-STARR-seq lymphoblastoid silent region 5684 [Gene]
  • LOC130055507:ATAC-STARR-seq lymphoblastoid silent region 5685 [Gene]
  • LOC130055508:ATAC-STARR-seq lymphoblastoid silent region 5686 [Gene]
  • LOC130055512:ATAC-STARR-seq lymphoblastoid silent region 5689 [Gene]
  • LOC130055513:ATAC-STARR-seq lymphoblastoid silent region 5690 [Gene]
  • LOC130055515:ATAC-STARR-seq lymphoblastoid silent region 5691 [Gene]
  • LOC126861920:BRD4-independent group 4 enhancer GRCh37_chr14:37549523-37550722 [Gene]
  • BRMS1L:BRMS1 like transcriptional repressor [Gene - OMIM - HGNC]
  • CLEC14A:C-type lectin domain containing 14A [Gene - OMIM - HGNC]
  • LOC126861917:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:36416980-36418179 [Gene]
  • LOC126861918:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:36630894-36632093 [Gene]
  • LOC126861925:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:39277742-39278941 [Gene]
  • LOC126861928:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:39672946-39674145 [Gene]
  • LOC126861930:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:44271803-44273002 [Gene]
  • LOC116268458:CRISPRi-validated cis-regulatory element chr14.550 [Gene]
  • FBXO33:F-box protein 33 [Gene - OMIM - HGNC]
  • LOC111500315:FOXA motif-containing MPRA enhancer 271 [Gene]
  • INSM2:INSM transcriptional repressor 2 [Gene - OMIM - HGNC]
  • MBIP:MAP3K12 binding inhibitory protein 1 [Gene - OMIM - HGNC]
  • LOC126861916:MED14-independent group 3 enhancer GRCh37_chr14:35590400-35591599 [Gene]
  • LOC126861921:MED14-independent group 3 enhancer GRCh37_chr14:37866371-37867570 [Gene]
  • LOC126861923:MED14-independent group 3 enhancer GRCh37_chr14:38124049-38125248 [Gene]
  • LOC126861924:MED14-independent group 3 enhancer GRCh37_chr14:38951414-38952613 [Gene]
  • LOC126861926:MED14-independent group 3 enhancer GRCh37_chr14:39401304-39402503 [Gene]
  • LOC126861927:MED14-independent group 3 enhancer GRCh37_chr14:39644148-39645347 [Gene]
  • LOC126861929:MED14-independent group 3 enhancer GRCh37_chr14:40916062-40917261 [Gene]
  • MIA2:MIA SH3 domain ER export factor 2 [Gene - OMIM - HGNC]
  • MIA2-AS1:MIA2 antisense RNA 1 [Gene - HGNC]
  • LOC129390622:MPRA-validated peak2137 silencer [Gene]
  • NFKBIA:NFKB inhibitor alpha [Gene - OMIM - HGNC]
  • NKX2-1:NK2 homeobox 1 [Gene - OMIM - HGNC]
  • NKX2-8:NK2 homeobox 8 [Gene - OMIM - HGNC]
  • NKX2-1-AS1:NKX2-1 antisense RNA 1 [Gene - HGNC]
  • LOC132090212:Neanderthal introgressed variant-containing enhancer experimental_33884 [Gene]
  • LOC132090213:Neanderthal introgressed variant-containing enhancer experimental_33920 [Gene]
  • LOC132090214:Neanderthal introgressed variant-containing enhancer experimental_34015 [Gene]
  • LOC132090215:Neanderthal introgressed variant-containing enhancer experimental_34039 [Gene]
  • LOC126861919:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:37271122-37272321 [Gene]
  • LOC126861922:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:38064763-38065962 [Gene]
  • LOC108281111:PAX9 promoter region [Gene]
  • PNN-AS1:PNN antisense RNA 1 [Gene - HGNC]
  • PRORP-PSMA6:PRORP-PSMA6 readthrough [Gene]
  • LOC108281128:PSMA6-RPLP0P3 intergenic CAGE-defined low expression enhancer [Gene]
  • RALGAPA1:Ral GTPase activating protein catalytic subunit alpha 1 [Gene - OMIM - HGNC]
  • SEC23A:SEC23 homolog A, COPII coat complex component [Gene - OMIM - HGNC]
  • SEC23A-AS1:SEC23A antisense RNA 1 [Gene - HGNC]
  • SLC25A21-AS1:SLC25A21 antisense RNA 1 [Gene - HGNC]
  • LOC121468011:Sharpr-MPRA regulatory region 10139 [Gene]
  • LOC124995371:Sharpr-MPRA regulatory region 11704 [Gene]
  • LOC124995370:Sharpr-MPRA regulatory region 12595 [Gene]
  • LOC124995373:Sharpr-MPRA regulatory region 1824 [Gene]
  • LOC124995372:Sharpr-MPRA regulatory region 2445 [Gene]
  • LOC124995374:Sharpr-MPRA regulatory region 2779 [Gene]
  • LOC121838590:Sharpr-MPRA regulatory region 4470 [Gene]
  • LOC112268479:Sharpr-MPRA regulatory region 8744 [Gene]
  • LOC125024475:Sharpr-MPRA regulatory region 9782 [Gene]
  • LOC110121326:VISTA enhancer hs1166 [Gene]
  • LOC110121391:VISTA enhancer hs1538 [Gene]
  • LOC110120857:VISTA enhancer hs348 [Gene]
  • LOC110120901:VISTA enhancer hs592 [Gene]
  • LOC110120902:VISTA enhancer hs593 [Gene]
  • LOC110120925:VISTA enhancer hs704 [Gene]
  • FAM177A1:family with sequence similarity 177 member A1 [Gene - OMIM - HGNC]
  • FOXA1:forkhead box A1 [Gene - OMIM - HGNC]
  • GEMIN2:gem nuclear organelle associated protein 2 [Gene - OMIM - HGNC]
  • LRFN5:leucine rich repeat and fibronectin type III domain containing 5 [Gene - OMIM - HGNC]
  • LINC02307:long intergenic non-protein coding RNA 2307 [Gene - HGNC]
  • LINC02315:long intergenic non-protein coding RNA 2315 [Gene - HGNC]
  • LINC00517:long intergenic non-protein coding RNA 517 [Gene - HGNC]
  • LINC00609:long intergenic non-protein coding RNA 609 [Gene - HGNC]
  • LINC00639:long intergenic non-protein coding RNA 639 [Gene - HGNC]
  • MIR4503:microRNA 4503 [Gene - HGNC]
  • MIPOL1:mirror-image polydactyly 1 [Gene - OMIM - HGNC]
  • PAX9:paired box 9 [Gene - OMIM - HGNC]
  • PTCSC3:papillary thyroid carcinoma susceptibility candidate 3 [Gene - OMIM - HGNC]
  • PNN:pinin, desmosome associated protein [Gene - OMIM - HGNC]
  • PSMA6:proteasome 20S subunit alpha 6 [Gene - OMIM - HGNC]
  • PRORP:protein only RNase P catalytic subunit [Gene - OMIM - HGNC]
  • PPP2R3C:protein phosphatase 2 regulatory subunit B''gamma [Gene - OMIM - HGNC]
  • SNORA101B:small nucleolar RNA, H/ACA box 101B [Gene - HGNC]
  • SLC25A21:solute carrier family 25 member 21 [Gene - OMIM - HGNC]
  • SSTR1:somatostatin receptor 1 [Gene - OMIM - HGNC]
  • SFTA3:surfactant associated 3 [Gene - OMIM - HGNC]
  • TTC6:tetratricopeptide repeat domain 6 [Gene - HGNC]
  • TRAPPC6B:trafficking protein particle complex subunit 6B [Gene - OMIM - HGNC]
  • LOC101927178:uncharacterized LOC101927178 [Gene]
  • LOC105370457:uncharacterized LOC105370457 [Gene]
  • LOC112268136:uncharacterized LOC112268136 [Gene]
Variant type:
copy number loss
Cytogenetic location:
14q13.2-21.2
Genomic location:
Preferred name:
GRCh38/hg38 14q13.2-21.2(chr14:35068276-43994777)x1
HGVS:
  • NC_000014.9:g.(?_35068276)_(43994777_?)del
  • NC_000014.7:g.(?_34607233)_(43533730_?)del
  • NC_000014.8:g.(?_35537482)_(44463980_?)del
Links:
dbVar: nssv1494967; dbVar: nsv869030
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
SCV000178099ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Oct 10, 2011) 		not providedclinical 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, SCV000178099.4

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

Last Updated: Oct 14, 2023