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GRCh38/hg38 14q23.1(chr14:58146022-61273619)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:
RCV000051522.5

Allele description

GRCh38/hg38 14q23.1(chr14:58146022-61273619)x1

Genes:
  • ARID4A:AT-rich interaction domain 4A [Gene - OMIM - HGNC]
  • LOC130055721:ATAC-STARR-seq lymphoblastoid active region 8440 [Gene]
  • LOC130055722:ATAC-STARR-seq lymphoblastoid active region 8441 [Gene]
  • LOC130055724:ATAC-STARR-seq lymphoblastoid active region 8442 [Gene]
  • LOC130055725:ATAC-STARR-seq lymphoblastoid active region 8443 [Gene]
  • LOC130055726:ATAC-STARR-seq lymphoblastoid active region 8444 [Gene]
  • LOC130055727:ATAC-STARR-seq lymphoblastoid active region 8445 [Gene]
  • LOC130055728:ATAC-STARR-seq lymphoblastoid active region 8446 [Gene]
  • LOC130055729:ATAC-STARR-seq lymphoblastoid active region 8447 [Gene]
  • LOC130055731:ATAC-STARR-seq lymphoblastoid active region 8452 [Gene]
  • LOC130055734:ATAC-STARR-seq lymphoblastoid active region 8453 [Gene]
  • LOC130055735:ATAC-STARR-seq lymphoblastoid active region 8454 [Gene]
  • LOC130055737:ATAC-STARR-seq lymphoblastoid active region 8455 [Gene]
  • LOC130055739:ATAC-STARR-seq lymphoblastoid active region 8456 [Gene]
  • LOC130055741:ATAC-STARR-seq lymphoblastoid active region 8458 [Gene]
  • LOC130055743:ATAC-STARR-seq lymphoblastoid active region 8459 [Gene]
  • LOC130055745:ATAC-STARR-seq lymphoblastoid active region 8460 [Gene]
  • LOC130055746:ATAC-STARR-seq lymphoblastoid active region 8461 [Gene]
  • LOC130055748:ATAC-STARR-seq lymphoblastoid active region 8462 [Gene]
  • LOC130055749:ATAC-STARR-seq lymphoblastoid active region 8463 [Gene]
  • LOC130055750:ATAC-STARR-seq lymphoblastoid active region 8464 [Gene]
  • LOC130055751:ATAC-STARR-seq lymphoblastoid active region 8465 [Gene]
  • LOC130055752:ATAC-STARR-seq lymphoblastoid active region 8466 [Gene]
  • LOC130055753:ATAC-STARR-seq lymphoblastoid active region 8467 [Gene]
  • LOC130055754:ATAC-STARR-seq lymphoblastoid active region 8468 [Gene]
  • LOC130055756:ATAC-STARR-seq lymphoblastoid active region 8469 [Gene]
  • LOC130055757:ATAC-STARR-seq lymphoblastoid active region 8470 [Gene]
  • LOC130055758:ATAC-STARR-seq lymphoblastoid active region 8471 [Gene]
  • LOC130055759:ATAC-STARR-seq lymphoblastoid active region 8472 [Gene]
  • LOC130055760:ATAC-STARR-seq lymphoblastoid active region 8473 [Gene]
  • LOC130055762:ATAC-STARR-seq lymphoblastoid active region 8476 [Gene]
  • LOC130055764:ATAC-STARR-seq lymphoblastoid active region 8477 [Gene]
  • LOC130055765:ATAC-STARR-seq lymphoblastoid active region 8478 [Gene]
  • LOC130055768:ATAC-STARR-seq lymphoblastoid active region 8479 [Gene]
  • LOC130055771:ATAC-STARR-seq lymphoblastoid active region 8480 [Gene]
  • LOC130055772:ATAC-STARR-seq lymphoblastoid active region 8481 [Gene]
  • LOC130055773:ATAC-STARR-seq lymphoblastoid active region 8482 [Gene]
  • LOC130055774:ATAC-STARR-seq lymphoblastoid active region 8483 [Gene]
  • LOC130055775:ATAC-STARR-seq lymphoblastoid active region 8484 [Gene]
  • LOC130055776:ATAC-STARR-seq lymphoblastoid active region 8485 [Gene]
  • LOC130055777:ATAC-STARR-seq lymphoblastoid active region 8486 [Gene]
  • LOC130055720:ATAC-STARR-seq lymphoblastoid silent region 5794 [Gene]
  • LOC130055723:ATAC-STARR-seq lymphoblastoid silent region 5797 [Gene]
  • LOC130055730:ATAC-STARR-seq lymphoblastoid silent region 5798 [Gene]
  • LOC130055732:ATAC-STARR-seq lymphoblastoid silent region 5799 [Gene]
  • LOC130055733:ATAC-STARR-seq lymphoblastoid silent region 5800 [Gene]
  • LOC130055736:ATAC-STARR-seq lymphoblastoid silent region 5801 [Gene]
  • LOC130055738:ATAC-STARR-seq lymphoblastoid silent region 5802 [Gene]
  • LOC130055740:ATAC-STARR-seq lymphoblastoid silent region 5803 [Gene]
  • LOC130055742:ATAC-STARR-seq lymphoblastoid silent region 5805 [Gene]
  • LOC130055744:ATAC-STARR-seq lymphoblastoid silent region 5806 [Gene]
  • LOC130055747:ATAC-STARR-seq lymphoblastoid silent region 5807 [Gene]
  • LOC130055755:ATAC-STARR-seq lymphoblastoid silent region 5808 [Gene]
  • LOC130055761:ATAC-STARR-seq lymphoblastoid silent region 5810 [Gene]
  • LOC130055763:ATAC-STARR-seq lymphoblastoid silent region 5811 [Gene]
  • LOC130055766:ATAC-STARR-seq lymphoblastoid silent region 5813 [Gene]
  • LOC130055767:ATAC-STARR-seq lymphoblastoid silent region 5814 [Gene]
  • LOC130055769:ATAC-STARR-seq lymphoblastoid silent region 5815 [Gene]
  • LOC130055770:ATAC-STARR-seq lymphoblastoid silent region 5816 [Gene]
  • LOC126861958:BRD4-independent group 4 enhancer GRCh37_chr14:60386022-60387221 [Gene]
  • LOC126861959:BRD4-independent group 4 enhancer GRCh37_chr14:60748999-60750198 [Gene]
  • LOC126861962:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:61721487-61722686 [Gene]
  • GPR135:G protein-coupled receptor 135 [Gene - OMIM - HGNC]
  • LOC111365186:HNF4 motif-containing MPRA enhancer 46 [Gene]
  • JKAMP:JNK1/MAPK8 associated membrane protein [Gene - OMIM - HGNC]
  • KIAA0586:KIAA0586 [Gene - OMIM - HGNC]
  • LOC126861960:MED14-independent group 3 enhancer GRCh37_chr14:61570068-61571267 [Gene]
  • MNAT1:MNAT1 component of CDK activating kinase [Gene - OMIM - HGNC]
  • LOC129390631:MPRA-validated peak2159 silencer [Gene]
  • LOC132090224:Neanderthal introgressed variant-containing enhancer experimental_34575 [Gene]
  • LOC132090225:Neanderthal introgressed variant-containing enhancer experimental_34577 [Gene]
  • LOC132090226:Neanderthal introgressed variant-containing enhancer experimental_34615 [Gene]
  • LOC126861961:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:61644987-61646186 [Gene]
  • PCNX4-DT:PCNX4 divergent transcript [Gene - HGNC]
  • PSMA3-AS1:PSMA3 antisense RNA 1 [Gene - HGNC]
  • SIX1:SIX homeobox 1 [Gene - OMIM - HGNC]
  • SIX4:SIX homeobox 4 [Gene - OMIM - HGNC]
  • SIX6:SIX homeobox 6 [Gene - OMIM - HGNC]
  • LOC112268486:Sharpr-MPRA regulatory region 1153 [Gene]
  • LOC112272545:Sharpr-MPRA regulatory region 12651 [Gene]
  • LOC125024492:Sharpr-MPRA regulatory region 13498 [Gene]
  • LOC125024497:Sharpr-MPRA regulatory region 14232 [Gene]
  • LOC125024495:Sharpr-MPRA regulatory region 14697 [Gene]
  • LOC125024493:Sharpr-MPRA regulatory region 14842 [Gene]
  • LOC125024491:Sharpr-MPRA regulatory region 2203 [Gene]
  • LOC125024496:Sharpr-MPRA regulatory region 5996 [Gene]
  • LOC121468015:Sharpr-MPRA regulatory region 9975 [Gene]
  • TOMM20L-DT:TOMM20L divergent transcript [Gene - HGNC]
  • LOC110121407:VISTA enhancer hs1602 [Gene]
  • ACTR10:actin related protein 10 [Gene - OMIM - HGNC]
  • ARMH4:armadillo like helical domain containing 4 [Gene - HGNC]
  • C14orf39:chromosome 14 open reading frame 39 [Gene - OMIM - HGNC]
  • CCDC175:coiled-coil domain containing 175 [Gene - HGNC]
  • DHRS7:dehydrogenase/reductase 7 [Gene - OMIM - HGNC]
  • DAAM1:dishevelled associated activator of morphogenesis 1 [Gene - OMIM - HGNC]
  • DACT1:dishevelled binding antagonist of beta catenin 1 [Gene - OMIM - HGNC]
  • LRRC9:leucine rich repeat containing 9 [Gene - HGNC]
  • LINC01500:long intergenic non-protein coding RNA 1500 [Gene - HGNC]
  • LINC00216:long intergenic non-protein coding RNA 216 [Gene - HGNC]
  • LINC02322:long intergenic non-protein coding RNA 2322 [Gene - HGNC]
  • MIR5586:microRNA 5586 [Gene - HGNC]
  • MIR9718:microRNA 9718 [Gene - HGNC]
  • PCNX4:pecanex 4 [Gene - HGNC]
  • PSMA3:proteasome 20S subunit alpha 3 [Gene - OMIM - HGNC]
  • PRKCH:protein kinase C eta [Gene - OMIM - HGNC]
  • PPM1A:protein phosphatase, Mg2+/Mn2+ dependent 1A [Gene - OMIM - HGNC]
  • RTN1:reticulon 1 [Gene - OMIM - HGNC]
  • SALRNA1:senescence associated long non-coding RNA 1 [Gene - HGNC]
  • SLC38A6:solute carrier family 38 member 6 [Gene - OMIM - HGNC]
  • TRMT5:tRNA methyltransferase 5 [Gene - OMIM - HGNC]
  • TRK-CTT1-1:tRNA-Lys (anticodon CTT) 1-1 [Gene - HGNC]
  • L3HYPDH:trans-L-3-hydroxyproline dehydratase [Gene - OMIM - HGNC]
  • TIMM9:translocase of inner mitochondrial membrane 9 [Gene - OMIM - HGNC]
  • TOMM20L:translocase of outer mitochondrial membrane 20 like [Gene - HGNC]
  • LOC101927702:uncharacterized LOC101927702 [Gene]
Variant type:
copy number loss
Cytogenetic location:
14q23.1
Genomic location:
Preferred name:
GRCh38/hg38 14q23.1(chr14:58146022-61273619)x1
HGVS:
  • NC_000014.9:g.(?_58146022)_(61273619_?)del
  • NC_000014.7:g.(?_57682493)_(60810090_?)del
  • NC_000014.8:g.(?_58612740)_(61740337_?)del
Links:
dbVar: nssv577472; dbVar: nsv530044
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
SCV000078870ISCA site 17

See additional submitters

criteria provided, single submitter

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

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 17, SCV000078870.4

#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