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GRCh38/hg38 14q22.1-22.3(chr14:51544846-55320598)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 16, 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:
RCV000135883.5

Allele description [Variation Report for GRCh38/hg38 14q22.1-22.3(chr14:51544846-55320598)x1]

GRCh38/hg38 14q22.1-22.3(chr14:51544846-55320598)x1

Genes:
  • LOC130055622:ATAC-STARR-seq lymphoblastoid active region 8374 [Gene]
  • LOC130055627:ATAC-STARR-seq lymphoblastoid active region 8375 [Gene]
  • LOC130055628:ATAC-STARR-seq lymphoblastoid active region 8376 [Gene]
  • LOC130055629:ATAC-STARR-seq lymphoblastoid active region 8377 [Gene]
  • LOC130055630:ATAC-STARR-seq lymphoblastoid active region 8378 [Gene]
  • LOC130055631:ATAC-STARR-seq lymphoblastoid active region 8379 [Gene]
  • LOC130055632:ATAC-STARR-seq lymphoblastoid active region 8380 [Gene]
  • LOC130055633:ATAC-STARR-seq lymphoblastoid active region 8381 [Gene]
  • LOC130055635:ATAC-STARR-seq lymphoblastoid active region 8383 [Gene]
  • LOC130055637:ATAC-STARR-seq lymphoblastoid active region 8384 [Gene]
  • LOC130055638:ATAC-STARR-seq lymphoblastoid active region 8385 [Gene]
  • LOC130055639:ATAC-STARR-seq lymphoblastoid active region 8386 [Gene]
  • LOC130055640:ATAC-STARR-seq lymphoblastoid active region 8387 [Gene]
  • LOC130055641:ATAC-STARR-seq lymphoblastoid active region 8388 [Gene]
  • LOC130055642:ATAC-STARR-seq lymphoblastoid active region 8389 [Gene]
  • LOC130055643:ATAC-STARR-seq lymphoblastoid active region 8390 [Gene]
  • LOC130055646:ATAC-STARR-seq lymphoblastoid active region 8392 [Gene]
  • LOC130055647:ATAC-STARR-seq lymphoblastoid active region 8393 [Gene]
  • LOC130055648:ATAC-STARR-seq lymphoblastoid active region 8394 [Gene]
  • LOC130055649:ATAC-STARR-seq lymphoblastoid active region 8395 [Gene]
  • LOC130055652:ATAC-STARR-seq lymphoblastoid active region 8396 [Gene]
  • LOC130055653:ATAC-STARR-seq lymphoblastoid active region 8397 [Gene]
  • LOC130055654:ATAC-STARR-seq lymphoblastoid active region 8398 [Gene]
  • LOC130055656:ATAC-STARR-seq lymphoblastoid active region 8399 [Gene]
  • LOC130055657:ATAC-STARR-seq lymphoblastoid active region 8400 [Gene]
  • LOC130055658:ATAC-STARR-seq lymphoblastoid active region 8401 [Gene]
  • LOC130055660:ATAC-STARR-seq lymphoblastoid active region 8402 [Gene]
  • LOC130055661:ATAC-STARR-seq lymphoblastoid active region 8403 [Gene]
  • LOC130055664:ATAC-STARR-seq lymphoblastoid active region 8404 [Gene]
  • LOC130055665:ATAC-STARR-seq lymphoblastoid active region 8405 [Gene]
  • LOC130055666:ATAC-STARR-seq lymphoblastoid active region 8406 [Gene]
  • LOC130055668:ATAC-STARR-seq lymphoblastoid active region 8407 [Gene]
  • LOC130055669:ATAC-STARR-seq lymphoblastoid active region 8408 [Gene]
  • LOC130055670:ATAC-STARR-seq lymphoblastoid active region 8409 [Gene]
  • LOC130055672:ATAC-STARR-seq lymphoblastoid active region 8411 [Gene]
  • LOC130055674:ATAC-STARR-seq lymphoblastoid active region 8412 [Gene]
  • LOC130055682:ATAC-STARR-seq lymphoblastoid active region 8413 [Gene]
  • LOC130055683:ATAC-STARR-seq lymphoblastoid active region 8414 [Gene]
  • LOC130055685:ATAC-STARR-seq lymphoblastoid active region 8416 [Gene]
  • LOC130055686:ATAC-STARR-seq lymphoblastoid active region 8418 [Gene]
  • LOC130055687:ATAC-STARR-seq lymphoblastoid active region 8419 [Gene]
  • LOC130055688:ATAC-STARR-seq lymphoblastoid active region 8420 [Gene]
  • LOC130055689:ATAC-STARR-seq lymphoblastoid active region 8421 [Gene]
  • LOC130055694:ATAC-STARR-seq lymphoblastoid active region 8423 [Gene]
  • LOC130055695:ATAC-STARR-seq lymphoblastoid active region 8424 [Gene]
  • LOC130055696:ATAC-STARR-seq lymphoblastoid active region 8425 [Gene]
  • LOC130055698:ATAC-STARR-seq lymphoblastoid active region 8427 [Gene]
  • LOC130055700:ATAC-STARR-seq lymphoblastoid active region 8428 [Gene]
  • LOC130055701:ATAC-STARR-seq lymphoblastoid active region 8429 [Gene]
  • LOC130055702:ATAC-STARR-seq lymphoblastoid active region 8430 [Gene]
  • LOC130055623:ATAC-STARR-seq lymphoblastoid silent region 5737 [Gene]
  • LOC130055624:ATAC-STARR-seq lymphoblastoid silent region 5738 [Gene]
  • LOC130055625:ATAC-STARR-seq lymphoblastoid silent region 5739 [Gene]
  • LOC130055626:ATAC-STARR-seq lymphoblastoid silent region 5740 [Gene]
  • LOC130055634:ATAC-STARR-seq lymphoblastoid silent region 5741 [Gene]
  • LOC130055636:ATAC-STARR-seq lymphoblastoid silent region 5742 [Gene]
  • LOC130055644:ATAC-STARR-seq lymphoblastoid silent region 5744 [Gene]
  • LOC130055645:ATAC-STARR-seq lymphoblastoid silent region 5745 [Gene]
  • LOC130055650:ATAC-STARR-seq lymphoblastoid silent region 5747 [Gene]
  • LOC130055651:ATAC-STARR-seq lymphoblastoid silent region 5748 [Gene]
  • LOC130055655:ATAC-STARR-seq lymphoblastoid silent region 5751 [Gene]
  • LOC130055659:ATAC-STARR-seq lymphoblastoid silent region 5752 [Gene]
  • LOC130055662:ATAC-STARR-seq lymphoblastoid silent region 5753 [Gene]
  • LOC130055663:ATAC-STARR-seq lymphoblastoid silent region 5754 [Gene]
  • LOC130055667:ATAC-STARR-seq lymphoblastoid silent region 5755 [Gene]
  • LOC130055671:ATAC-STARR-seq lymphoblastoid silent region 5761 [Gene]
  • LOC130055673:ATAC-STARR-seq lymphoblastoid silent region 5764 [Gene]
  • LOC130055675:ATAC-STARR-seq lymphoblastoid silent region 5766 [Gene]
  • LOC130055676:ATAC-STARR-seq lymphoblastoid silent region 5767 [Gene]
  • LOC130055677:ATAC-STARR-seq lymphoblastoid silent region 5768 [Gene]
  • LOC130055678:ATAC-STARR-seq lymphoblastoid silent region 5769 [Gene]
  • LOC130055679:ATAC-STARR-seq lymphoblastoid silent region 5770 [Gene]
  • LOC130055680:ATAC-STARR-seq lymphoblastoid silent region 5771 [Gene]
  • LOC130055681:ATAC-STARR-seq lymphoblastoid silent region 5772 [Gene]
  • LOC130055684:ATAC-STARR-seq lymphoblastoid silent region 5773 [Gene]
  • LOC130055690:ATAC-STARR-seq lymphoblastoid silent region 5774 [Gene]
  • LOC130055691:ATAC-STARR-seq lymphoblastoid silent region 5775 [Gene]
  • LOC130055692:ATAC-STARR-seq lymphoblastoid silent region 5776 [Gene]
  • LOC130055693:ATAC-STARR-seq lymphoblastoid silent region 5779 [Gene]
  • LOC130055697:ATAC-STARR-seq lymphoblastoid silent region 5780 [Gene]
  • LOC130055699:ATAC-STARR-seq lymphoblastoid silent region 5781 [Gene]
  • LOC109433677:BMP4 promoter region [Gene]
  • LOC126861940:BRD4-independent group 4 enhancer GRCh37_chr14:52674645-52675844 [Gene]
  • LOC108228206:CAGE-defined high expression enhancer upstream of NID2 [Gene]
  • LOC126861941:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:53858219-53859418 [Gene]
  • LOC126861945:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:54718298-54719497 [Gene]
  • DDHD1:DDHD domain containing 1 [Gene - OMIM - HGNC]
  • DDHD1-DT:DDHD1 divergent transcript [Gene - HGNC]
  • DLGAP5:DLG associated protein 5 [Gene - OMIM - HGNC]
  • FBXO34:F-box protein 34 [Gene - OMIM - HGNC]
  • FBXO34-AS1:FBXO34 antisense RNA 1 [Gene - HGNC]
  • FRMD6:FERM domain containing 6 [Gene - OMIM - HGNC]
  • FERMT2:FERM domain containing kindlin 2 [Gene - OMIM - HGNC]
  • FRMD6-AS1:FRMD6 antisense RNA 1 [Gene - HGNC]
  • FRMD6-AS2:FRMD6 antisense RNA 2 [Gene - HGNC]
  • GNG2:G protein subunit gamma 2 [Gene - OMIM - HGNC]
  • GPR137C:G protein-coupled receptor 137C [Gene - HGNC]
  • GCH1:GTP cyclohydrolase 1 [Gene - OMIM - HGNC]
  • LOC111413016:HNF4 motif-containing MPRA enhancer 145 [Gene]
  • LOC126861943:MED14-independent group 3 enhancer GRCh37_chr14:54074633-54075832 [Gene]
  • LOC126861944:MED14-independent group 3 enhancer GRCh37_chr14:54316803-54318002 [Gene]
  • LOC126861947:MED14-independent group 3 enhancer GRCh37_chr14:55543983-55545182 [Gene]
  • LOC132090216:Neanderthal introgressed variant-containing enhancer experimental_34233 [Gene]
  • LOC126861942:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:53924665-53925864 [Gene]
  • LOC126861946:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:55239710-55240909 [Gene]
  • LOC126861948:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:55574032-55575231 [Gene]
  • RTRAF:RNA transcription, translation and transport factor [Gene - OMIM - HGNC]
  • SAMD4A-AS1:SAMD4A antisense RNA 1 [Gene - HGNC]
  • LOC125024483:Sharpr-MPRA regulatory region 10339 [Gene]
  • LOC125024486:Sharpr-MPRA regulatory region 12509 [Gene]
  • LOC121468014:Sharpr-MPRA regulatory region 12958 [Gene]
  • LOC125024485:Sharpr-MPRA regulatory region 14732 [Gene]
  • LOC125024487:Sharpr-MPRA regulatory region 1906 [Gene]
  • LOC125024484:Sharpr-MPRA regulatory region 2316 [Gene]
  • LOC112268483:Sharpr-MPRA regulatory region 2393 [Gene]
  • LOC121838592:Sharpr-MPRA regulatory region 400 [Gene]
  • LOC125024488:Sharpr-MPRA regulatory region 5571 [Gene]
  • LOC112268481:Sharpr-MPRA regulatory region 5932 [Gene]
  • LOC125024482:Sharpr-MPRA regulatory region 8176 [Gene]
  • LOC112268484:Sharpr-MPRA regulatory region 8345 [Gene]
  • LOC112268482:Sharpr-MPRA regulatory region 9489 [Gene]
  • LOC125024489:Sharpr-MPRA regulatory region 9702 [Gene]
  • LOC110121325:VISTA enhancer hs1151 [Gene]
  • LOC110121362:VISTA enhancer hs1414 [Gene]
  • LOC110121414:VISTA enhancer hs1629 [Gene]
  • WDHD1:WD repeat and HMG-box DNA binding protein 1 [Gene - OMIM - HGNC]
  • BMP4:bone morphogenetic protein 4 [Gene - OMIM - HGNC]
  • CGRRF1:cell growth regulator with ring finger domain 1 [Gene - OMIM - HGNC]
  • CNIH1:cornichon family member 1 [Gene - OMIM - HGNC]
  • CDKN3:cyclin dependent kinase inhibitor 3 [Gene - OMIM - HGNC]
  • ERO1A:endoplasmic reticulum oxidoreductase 1 alpha [Gene - OMIM - HGNC]
  • LOC109433679:enhancer downstream of BMP4 [Gene]
  • LGALS3:galectin 3 [Gene - OMIM - HGNC]
  • GMFB:glia maturation factor beta [Gene - OMIM - HGNC]
  • GNPNAT1:glucosamine-phosphate N-acetyltransferase 1 [Gene - OMIM - HGNC]
  • LINC02319:long intergenic non-protein coding RNA 2319 [Gene - HGNC]
  • LINC02331:long intergenic non-protein coding RNA 2331 [Gene - HGNC]
  • MIR4308:microRNA 4308 [Gene - HGNC]
  • MIR5580:microRNA 5580 [Gene - HGNC]
  • MAPK1IP1L:mitogen-activated protein kinase 1 interacting protein 1 like [Gene - OMIM - HGNC]
  • NID2:nidogen 2 [Gene - OMIM - HGNC]
  • PTGDR:prostaglandin D2 receptor [Gene - OMIM - HGNC]
  • PTGER2:prostaglandin E receptor 2 [Gene - OMIM - HGNC]
  • PSMC6:proteasome 26S subunit, ATPase 6 [Gene - OMIM - HGNC]
  • STYX:serine/threonine/tyrosine interacting protein [Gene - OMIM - HGNC]
  • SAMD4A:sterile alpha motif domain containing 4A [Gene - OMIM - HGNC]
  • SOCS4:suppressor of cytokine signaling 4 [Gene - OMIM - HGNC]
  • TXNDC16:thioredoxin domain containing 16 [Gene - OMIM - HGNC]
  • LOC102723604:uncharacterized LOC102723604 [Gene]
Variant type:
copy number loss
Cytogenetic location:
14q22.1-22.3
Genomic location:
Preferred name:
GRCh38/hg38 14q22.1-22.3(chr14:51544846-55320598)x1
HGVS:
  • NC_000014.9:g.(?_51544846)_(55320598_?)del
  • NC_000014.7:g.(?_51081314)_(54857069_?)del
  • NC_000014.8:g.(?_52011564)_(55787316_?)del
Links:
dbVar: nssv582271; dbVar: nsv533164
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
SCV000175891ISCA site 11

See additional submitters

no assertion criteria provided
Pathogenic
(Feb 16, 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 11, SCV000175891.3

#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