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GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 30, 2010
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:
RCV000136757.4

Allele description [Variation Report for GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1]

GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1

Genes:
  • NT5E:5'-nucleotidase ecto [Gene - OMIM - HGNC]
  • HTR1E:5-hydroxytryptamine receptor 1E [Gene - OMIM - HGNC]
  • LOC129996775:ATAC-STARR-seq lymphoblastoid active region 24787 [Gene]
  • LOC129996779:ATAC-STARR-seq lymphoblastoid active region 24790 [Gene]
  • LOC129996780:ATAC-STARR-seq lymphoblastoid active region 24791 [Gene]
  • LOC129996781:ATAC-STARR-seq lymphoblastoid active region 24792 [Gene]
  • LOC129996782:ATAC-STARR-seq lymphoblastoid active region 24793 [Gene]
  • LOC129996783:ATAC-STARR-seq lymphoblastoid active region 24794 [Gene]
  • LOC129996786:ATAC-STARR-seq lymphoblastoid active region 24795 [Gene]
  • LOC129996787:ATAC-STARR-seq lymphoblastoid active region 24796 [Gene]
  • LOC129996788:ATAC-STARR-seq lymphoblastoid active region 24797 [Gene]
  • LOC129996791:ATAC-STARR-seq lymphoblastoid active region 24799 [Gene]
  • LOC129996792:ATAC-STARR-seq lymphoblastoid active region 24800 [Gene]
  • LOC129996793:ATAC-STARR-seq lymphoblastoid active region 24801 [Gene]
  • LOC129996794:ATAC-STARR-seq lymphoblastoid active region 24802 [Gene]
  • LOC129996795:ATAC-STARR-seq lymphoblastoid active region 24803 [Gene]
  • LOC129996796:ATAC-STARR-seq lymphoblastoid active region 24804 [Gene]
  • LOC129996797:ATAC-STARR-seq lymphoblastoid active region 24805 [Gene]
  • LOC129996798:ATAC-STARR-seq lymphoblastoid active region 24806 [Gene]
  • LOC129996799:ATAC-STARR-seq lymphoblastoid active region 24807 [Gene]
  • LOC129996800:ATAC-STARR-seq lymphoblastoid active region 24808 [Gene]
  • LOC129996801:ATAC-STARR-seq lymphoblastoid active region 24810 [Gene]
  • LOC129996802:ATAC-STARR-seq lymphoblastoid active region 24811 [Gene]
  • LOC129996803:ATAC-STARR-seq lymphoblastoid active region 24812 [Gene]
  • LOC129996808:ATAC-STARR-seq lymphoblastoid active region 24814 [Gene]
  • LOC129996809:ATAC-STARR-seq lymphoblastoid active region 24815 [Gene]
  • LOC129996811:ATAC-STARR-seq lymphoblastoid active region 24816 [Gene]
  • LOC129996812:ATAC-STARR-seq lymphoblastoid active region 24817 [Gene]
  • LOC129996813:ATAC-STARR-seq lymphoblastoid active region 24818 [Gene]
  • LOC129996817:ATAC-STARR-seq lymphoblastoid active region 24819 [Gene]
  • LOC129996820:ATAC-STARR-seq lymphoblastoid active region 24820 [Gene]
  • LOC129996822:ATAC-STARR-seq lymphoblastoid active region 24822 [Gene]
  • LOC129996824:ATAC-STARR-seq lymphoblastoid active region 24823 [Gene]
  • LOC129996825:ATAC-STARR-seq lymphoblastoid active region 24824 [Gene]
  • LOC129996826:ATAC-STARR-seq lymphoblastoid active region 24826 [Gene]
  • LOC129996827:ATAC-STARR-seq lymphoblastoid active region 24827 [Gene]
  • LOC129996828:ATAC-STARR-seq lymphoblastoid active region 24828 [Gene]
  • LOC129996834:ATAC-STARR-seq lymphoblastoid active region 24832 [Gene]
  • LOC129996835:ATAC-STARR-seq lymphoblastoid active region 24833 [Gene]
  • LOC129996836:ATAC-STARR-seq lymphoblastoid active region 24834 [Gene]
  • LOC129996839:ATAC-STARR-seq lymphoblastoid active region 24835 [Gene]
  • LOC129996840:ATAC-STARR-seq lymphoblastoid active region 24836 [Gene]
  • LOC129996774:ATAC-STARR-seq lymphoblastoid silent region 17366 [Gene]
  • LOC129996776:ATAC-STARR-seq lymphoblastoid silent region 17368 [Gene]
  • LOC129996777:ATAC-STARR-seq lymphoblastoid silent region 17369 [Gene]
  • LOC129996778:ATAC-STARR-seq lymphoblastoid silent region 17370 [Gene]
  • LOC129996784:ATAC-STARR-seq lymphoblastoid silent region 17372 [Gene]
  • LOC129996785:ATAC-STARR-seq lymphoblastoid silent region 17373 [Gene]
  • LOC129996789:ATAC-STARR-seq lymphoblastoid silent region 17375 [Gene]
  • LOC129996790:ATAC-STARR-seq lymphoblastoid silent region 17376 [Gene]
  • LOC129996804:ATAC-STARR-seq lymphoblastoid silent region 17377 [Gene]
  • LOC129996805:ATAC-STARR-seq lymphoblastoid silent region 17378 [Gene]
  • LOC129996806:ATAC-STARR-seq lymphoblastoid silent region 17379 [Gene]
  • LOC129996807:ATAC-STARR-seq lymphoblastoid silent region 17380 [Gene]
  • LOC129996810:ATAC-STARR-seq lymphoblastoid silent region 17381 [Gene]
  • LOC129996814:ATAC-STARR-seq lymphoblastoid silent region 17382 [Gene]
  • LOC129996815:ATAC-STARR-seq lymphoblastoid silent region 17383 [Gene]
  • LOC129996816:ATAC-STARR-seq lymphoblastoid silent region 17385 [Gene]
  • LOC129996818:ATAC-STARR-seq lymphoblastoid silent region 17386 [Gene]
  • LOC129996819:ATAC-STARR-seq lymphoblastoid silent region 17387 [Gene]
  • LOC129996821:ATAC-STARR-seq lymphoblastoid silent region 17388 [Gene]
  • LOC129996823:ATAC-STARR-seq lymphoblastoid silent region 17391 [Gene]
  • LOC129996829:ATAC-STARR-seq lymphoblastoid silent region 17392 [Gene]
  • LOC129996830:ATAC-STARR-seq lymphoblastoid silent region 17393 [Gene]
  • LOC129996831:ATAC-STARR-seq lymphoblastoid silent region 17394 [Gene]
  • LOC129996832:ATAC-STARR-seq lymphoblastoid silent region 17395 [Gene]
  • LOC129996833:ATAC-STARR-seq lymphoblastoid silent region 17396 [Gene]
  • LOC129996837:ATAC-STARR-seq lymphoblastoid silent region 17397 [Gene]
  • LOC129996838:ATAC-STARR-seq lymphoblastoid silent region 17398 [Gene]
  • LOC129996841:ATAC-STARR-seq lymphoblastoid silent region 17399 [Gene]
  • LOC129996842:ATAC-STARR-seq lymphoblastoid silent region 17400 [Gene]
  • LOC129996843:ATAC-STARR-seq lymphoblastoid silent region 17401 [Gene]
  • LOC126859730:BRD4-independent group 4 enhancer GRCh37_chr6:87497596-87498795 [Gene]
  • LOC126859737:BRD4-independent group 4 enhancer GRCh37_chr6:90007048-90008247 [Gene]
  • LOC126859738:BRD4-independent group 4 enhancer GRCh37_chr6:90347214-90348413 [Gene]
  • LOC126859739:BRD4-independent group 4 enhancer GRCh37_chr6:90367565-90368764 [Gene]
  • LOC126859743:BRD4-independent group 4 enhancer GRCh37_chr6:91078586-91079785 [Gene]
  • BACH2:BTB domain and CNC homolog 2 [Gene - OMIM - HGNC]
  • LOC108348029:CAGE-defined B cell enhancer in LOC101928911-SPACA1 intergenic region [Gene]
  • LOC126859734:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:88834755-88835954 [Gene]
  • LOC126859736:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:89239515-89240714 [Gene]
  • LOC126859740:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:90866333-90867532 [Gene]
  • LOC116183066:CRISPRi-validated cis-regulatory element chr6.3824 [Gene]
  • LOC111413030:FOXA motif-containing MPRA enhancer 167 [Gene]
  • LYRM2:LYR motif containing 2 [Gene - HGNC]
  • MDN1-AS1:MDN1 antisense RNA 1 [Gene - HGNC]
  • LOC126859728:MED14-independent group 3 enhancer GRCh37_chr6:87291002-87292201 [Gene]
  • LOC126859729:MED14-independent group 3 enhancer GRCh37_chr6:87433363-87434562 [Gene]
  • LOC126859735:MED14-independent group 3 enhancer GRCh37_chr6:89060126-89061325 [Gene]
  • LOC126859741:MED14-independent group 3 enhancer GRCh37_chr6:90894000-90895199 [Gene]
  • LOC129389570:MPRA-validated peak5939 silencer [Gene]
  • LOC129389571:MPRA-validated peak5941 silencer [Gene]
  • LOC129389572:MPRA-validated peak5943 silencer [Gene]
  • LOC129389573:MPRA-validated peak5945 silencer [Gene]
  • LOC129389574:MPRA-validated peak5946 silencer [Gene]
  • LOC129389575:MPRA-validated peak5947 silencer [Gene]
  • LOC129389576:MPRA-validated peak5948 silencer [Gene]
  • LOC129389577:MPRA-validated peak5950 silencer [Gene]
  • LOC129389578:MPRA-validated peak5952 silencer [Gene]
  • LOC129389579:MPRA-validated peak5956 silencer [Gene]
  • LOC129389580:MPRA-validated peak5961 silencer [Gene]
  • LOC129389581:MPRA-validated peak5962 silencer [Gene]
  • LOC126859731:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:87679014-87680213 [Gene]
  • LOC126859732:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:87922894-87924093 [Gene]
  • LOC126859733:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:88193750-88194949 [Gene]
  • LOC126859742:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:90931785-90932984 [Gene]
  • PNRC1-DT:PNRC1 divergent transcript [Gene - HGNC]
  • RNGTT:RNA guanylyltransferase and 5'-phosphatase [Gene - OMIM - HGNC]
  • RRAGD:Ras related GTP binding D [Gene - OMIM - HGNC]
  • LOC121740658:Sharpr-MPRA regulatory region 13381 [Gene]
  • LOC121132697:Sharpr-MPRA regulatory region 13581 [Gene]
  • LOC123775383:Sharpr-MPRA regulatory region 14578 [Gene]
  • LOC121132699:Sharpr-MPRA regulatory region 1684 [Gene]
  • LOC121132698:Sharpr-MPRA regulatory region 4618 [Gene]
  • LOC113175020:Sharpr-MPRA regulatory region 5254 [Gene]
  • LOC123775384:Sharpr-MPRA regulatory region 6453 [Gene]
  • LOC121132700:Sharpr-MPRA regulatory region 8521 [Gene]
  • LOC123775382:Sharpr-MPRA regulatory region 852 [Gene]
  • AKIRIN2:akirin 2 [Gene - OMIM - HGNC]
  • ANKRD6:ankyrin repeat domain 6 [Gene - OMIM - HGNC]
  • RARS2:arginyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • CNR1:cannabinoid receptor 1 [Gene - OMIM - HGNC]
  • CASP8AP2:caspase 8 associated protein 2 [Gene - OMIM - HGNC]
  • C6orf163:chromosome 6 open reading frame 163 [Gene - HGNC]
  • CFAP206:cilia and flagella associated protein 206 [Gene - HGNC]
  • GABRR1:gamma-aminobutyric acid type A receptor subunit rho1 [Gene - OMIM - HGNC]
  • GABRR2:gamma-aminobutyric acid type A receptor subunit rho2 [Gene - OMIM - HGNC]
  • GJA10:gap junction protein alpha 10 [Gene - OMIM - HGNC]
  • GJB7:gap junction protein beta 7 [Gene - OMIM - HGNC]
  • CGA:glycoprotein hormones, alpha polypeptide [Gene - OMIM - HGNC]
  • LINC01590:long intergenic non-protein coding RNA 1590 [Gene - HGNC]
  • LINC02535:long intergenic non-protein coding RNA 2535 [Gene - HGNC]
  • LOC128772296:melanoma risk locus-associated MPRA allelic enhancer 6:90866227 [Gene]
  • LOC128772297:melanoma risk locus-associated MPRA allelic enhancer 6:90883525 [Gene]
  • LOC128772298:melanoma risk locus-associated MPRA allelic enhancer 6:90941289 [Gene]
  • LOC128772299:melanoma risk locus-associated MPRA allelic enhancer 6:90981657 [Gene]
  • LOC128772300:melanoma risk locus-associated MPRA allelic enhancer 6:90982387 [Gene]
  • LOC128772301:melanoma risk locus-associated MPRA allelic enhancer 6:91012867 [Gene]
  • LOC128772302:melanoma risk locus-associated MPRA allelic enhancer 6:91036267 [Gene]
  • LOC128772303:melanoma risk locus-associated MPRA allelic enhancer 6:91037287 [Gene]
  • MIR4464:microRNA 4464 [Gene - HGNC]
  • MDN1:midasin AAA ATPase 1 [Gene - OMIM - HGNC]
  • MAP3K7:mitogen-activated protein kinase kinase kinase 7 [Gene - OMIM - HGNC]
  • ORC3:origin recognition complex subunit 3 [Gene - OMIM - HGNC]
  • PM20D2:peptidase M20 domain containing 2 [Gene - OMIM - HGNC]
  • PNRC1:proline rich nuclear receptor coactivator 1 [Gene - OMIM - HGNC]
  • SRSF12:serine and arginine rich splicing factor 12 [Gene - HGNC]
  • SMIM8:small integral membrane protein 8 [Gene - HGNC]
  • SNHG5:small nucleolar RNA host gene 5 [Gene - OMIM - HGNC]
  • SNORD50A:small nucleolar RNA, C/D box 50A [Gene - OMIM - HGNC]
  • SNORD50B:small nucleolar RNA, C/D box 50B [Gene - OMIM - HGNC]
  • SLC35A1:solute carrier family 35 member A1 [Gene - OMIM - HGNC]
  • SNX14:sorting nexin 14 [Gene - OMIM - HGNC]
  • SPACA1:sperm acrosome associated 1 [Gene - OMIM - HGNC]
  • SYNCRIP:synaptotagmin binding cytoplasmic RNA interacting protein [Gene - OMIM - HGNC]
  • UBE2J1:ubiquitin conjugating enzyme E2 J1 [Gene - OMIM - HGNC]
  • LOC101928911:uncharacterized LOC101928911 [Gene]
  • LOC101928936:uncharacterized LOC101928936 [Gene]
  • ZNF292:zinc finger protein 292 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
6q14.3-15
Genomic location:
Preferred name:
GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1
HGVS:
  • NC_000006.12:g.(?_85370716)_(90669793_?)del
  • NC_000006.10:g.(?_86137153)_(91436233_?)del
  • NC_000006.11:g.(?_86080434)_(91379512_?)del
Links:
dbVar: nssv582144; dbVar: nsv534100
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
SCV000176877ISCA site 8

See additional submitters

no assertion criteria provided
Pathogenic
(Jan 30, 2010) 		de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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 8, SCV000176877.3

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

Last Updated: Oct 14, 2023