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GRCh38/hg38 8q22.1(chr8:92755532-97792132)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:
RCV000054278.4

Allele description

GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1

Genes:
  • LOC130000728:ATAC-STARR-seq lymphoblastoid active region 27616 [Gene]
  • LOC130000730:ATAC-STARR-seq lymphoblastoid active region 27617 [Gene]
  • LOC130000731:ATAC-STARR-seq lymphoblastoid active region 27618 [Gene]
  • LOC130000732:ATAC-STARR-seq lymphoblastoid active region 27619 [Gene]
  • LOC130000733:ATAC-STARR-seq lymphoblastoid active region 27620 [Gene]
  • LOC130000739:ATAC-STARR-seq lymphoblastoid active region 27621 [Gene]
  • LOC130000740:ATAC-STARR-seq lymphoblastoid active region 27622 [Gene]
  • LOC130000741:ATAC-STARR-seq lymphoblastoid active region 27623 [Gene]
  • LOC130000742:ATAC-STARR-seq lymphoblastoid active region 27624 [Gene]
  • LOC130000743:ATAC-STARR-seq lymphoblastoid active region 27625 [Gene]
  • LOC130000744:ATAC-STARR-seq lymphoblastoid active region 27626 [Gene]
  • LOC130000746:ATAC-STARR-seq lymphoblastoid active region 27630 [Gene]
  • LOC130000749:ATAC-STARR-seq lymphoblastoid active region 27631 [Gene]
  • LOC130000750:ATAC-STARR-seq lymphoblastoid active region 27632 [Gene]
  • LOC130000751:ATAC-STARR-seq lymphoblastoid active region 27633 [Gene]
  • LOC130000752:ATAC-STARR-seq lymphoblastoid active region 27634 [Gene]
  • LOC130000754:ATAC-STARR-seq lymphoblastoid active region 27635 [Gene]
  • LOC130000760:ATAC-STARR-seq lymphoblastoid active region 27636 [Gene]
  • LOC130000761:ATAC-STARR-seq lymphoblastoid active region 27638 [Gene]
  • LOC130000762:ATAC-STARR-seq lymphoblastoid active region 27639 [Gene]
  • LOC130000764:ATAC-STARR-seq lymphoblastoid active region 27640 [Gene]
  • LOC130000765:ATAC-STARR-seq lymphoblastoid active region 27641 [Gene]
  • LOC130000766:ATAC-STARR-seq lymphoblastoid active region 27642 [Gene]
  • LOC130000767:ATAC-STARR-seq lymphoblastoid active region 27643 [Gene]
  • LOC130000768:ATAC-STARR-seq lymphoblastoid active region 27644 [Gene]
  • LOC130000769:ATAC-STARR-seq lymphoblastoid active region 27645 [Gene]
  • LOC130000771:ATAC-STARR-seq lymphoblastoid active region 27646 [Gene]
  • LOC130000772:ATAC-STARR-seq lymphoblastoid active region 27647 [Gene]
  • LOC130000775:ATAC-STARR-seq lymphoblastoid active region 27648 [Gene]
  • LOC130000778:ATAC-STARR-seq lymphoblastoid active region 27649 [Gene]
  • LOC130000779:ATAC-STARR-seq lymphoblastoid active region 27650 [Gene]
  • LOC130000780:ATAC-STARR-seq lymphoblastoid active region 27651 [Gene]
  • LOC130000781:ATAC-STARR-seq lymphoblastoid active region 27652 [Gene]
  • LOC130000782:ATAC-STARR-seq lymphoblastoid active region 27653 [Gene]
  • LOC130000783:ATAC-STARR-seq lymphoblastoid active region 27654 [Gene]
  • LOC130000784:ATAC-STARR-seq lymphoblastoid active region 27655 [Gene]
  • LOC130000785:ATAC-STARR-seq lymphoblastoid active region 27656 [Gene]
  • LOC130000786:ATAC-STARR-seq lymphoblastoid active region 27657 [Gene]
  • LOC130000787:ATAC-STARR-seq lymphoblastoid active region 27658 [Gene]
  • LOC130000789:ATAC-STARR-seq lymphoblastoid active region 27659 [Gene]
  • LOC130000790:ATAC-STARR-seq lymphoblastoid active region 27660 [Gene]
  • LOC130000791:ATAC-STARR-seq lymphoblastoid active region 27661 [Gene]
  • LOC130000792:ATAC-STARR-seq lymphoblastoid active region 27662 [Gene]
  • LOC130000793:ATAC-STARR-seq lymphoblastoid active region 27663 [Gene]
  • LOC130000794:ATAC-STARR-seq lymphoblastoid active region 27664 [Gene]
  • LOC130000795:ATAC-STARR-seq lymphoblastoid active region 27665 [Gene]
  • LOC130000797:ATAC-STARR-seq lymphoblastoid active region 27666 [Gene]
  • LOC130000798:ATAC-STARR-seq lymphoblastoid active region 27667 [Gene]
  • LOC130000799:ATAC-STARR-seq lymphoblastoid active region 27668 [Gene]
  • LOC130000800:ATAC-STARR-seq lymphoblastoid active region 27669 [Gene]
  • LOC130000729:ATAC-STARR-seq lymphoblastoid silent region 19356 [Gene]
  • LOC130000734:ATAC-STARR-seq lymphoblastoid silent region 19360 [Gene]
  • LOC130000735:ATAC-STARR-seq lymphoblastoid silent region 19361 [Gene]
  • LOC130000736:ATAC-STARR-seq lymphoblastoid silent region 19362 [Gene]
  • LOC130000737:ATAC-STARR-seq lymphoblastoid silent region 19363 [Gene]
  • LOC130000738:ATAC-STARR-seq lymphoblastoid silent region 19364 [Gene]
  • LOC130000745:ATAC-STARR-seq lymphoblastoid silent region 19365 [Gene]
  • LOC130000747:ATAC-STARR-seq lymphoblastoid silent region 19366 [Gene]
  • LOC130000748:ATAC-STARR-seq lymphoblastoid silent region 19367 [Gene]
  • LOC130000753:ATAC-STARR-seq lymphoblastoid silent region 19369 [Gene]
  • LOC130000755:ATAC-STARR-seq lymphoblastoid silent region 19370 [Gene]
  • LOC130000756:ATAC-STARR-seq lymphoblastoid silent region 19371 [Gene]
  • LOC130000757:ATAC-STARR-seq lymphoblastoid silent region 19372 [Gene]
  • LOC130000758:ATAC-STARR-seq lymphoblastoid silent region 19373 [Gene]
  • LOC130000759:ATAC-STARR-seq lymphoblastoid silent region 19374 [Gene]
  • LOC130000763:ATAC-STARR-seq lymphoblastoid silent region 19379 [Gene]
  • LOC130000770:ATAC-STARR-seq lymphoblastoid silent region 19380 [Gene]
  • LOC130000773:ATAC-STARR-seq lymphoblastoid silent region 19381 [Gene]
  • LOC130000774:ATAC-STARR-seq lymphoblastoid silent region 19382 [Gene]
  • LOC130000776:ATAC-STARR-seq lymphoblastoid silent region 19383 [Gene]
  • LOC130000777:ATAC-STARR-seq lymphoblastoid silent region 19384 [Gene]
  • LOC130000788:ATAC-STARR-seq lymphoblastoid silent region 19385 [Gene]
  • LOC130000796:ATAC-STARR-seq lymphoblastoid silent region 19389 [Gene]
  • LOC130000801:ATAC-STARR-seq lymphoblastoid silent region 19390 [Gene]
  • LOC126860441:BRD4-independent group 4 enhancer GRCh37_chr8:94146448-94147647 [Gene]
  • LOC126860446:BRD4-independent group 4 enhancer GRCh37_chr8:95319922-95321121 [Gene]
  • CIBAR1:CBY1 interacting BAR domain containing 1 [Gene - OMIM - HGNC]
  • LOC126860445:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:95218310-95219509 [Gene]
  • CFAP418-AS1:CFAP418 antisense RNA 1 [Gene - HGNC]
  • CIBAR1-DT:CIBAR1 divergent transcript [Gene - HGNC]
  • LOC116186934:CRISPRi-validated cis-regulatory element chr8.2347 [Gene]
  • GEM:GTP binding protein overexpressed in skeletal muscle [Gene - OMIM - HGNC]
  • MIR3150BHG:MIR3150B host gene [Gene - HGNC]
  • MIR378D2HG:MIR378D2 host gene [Gene - HGNC]
  • LOC129390024:MPRA-validated peak7108 silencer [Gene]
  • LOC129390025:MPRA-validated peak7115 silencer [Gene]
  • NDUFAF6:NADH:ubiquinone oxidoreductase complex assembly factor 6 [Gene - OMIM - HGNC]
  • LOC126860442:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:94858379-94859578 [Gene]
  • LOC126860443:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:94892037-94893236 [Gene]
  • LOC126860444:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:95036583-95037782 [Gene]
  • LOC126860447:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:96478176-96479375 [Gene]
  • RAD54B:RAD54 homolog B [Gene - OMIM - HGNC]
  • RBM12B-AS1:RBM12B antisense RNA 1 [Gene - HGNC]
  • RBM12B-DT:RBM12B divergent transcript [Gene - HGNC]
  • RBM12B:RNA binding motif protein 12B [Gene - HGNC]
  • LOC124174291:Sharpr-MPRA regulatory region 10382 [Gene]
  • LOC113788298:Sharpr-MPRA regulatory region 10694 [Gene]
  • LOC121740722:Sharpr-MPRA regulatory region 13407 [Gene]
  • LOC124174290:Sharpr-MPRA regulatory region 136 [Gene]
  • LOC113788297:Sharpr-MPRA regulatory region 2014 [Gene]
  • LOC124174294:Sharpr-MPRA regulatory region 2413 [Gene]
  • LOC124174293:Sharpr-MPRA regulatory region 4348 [Gene]
  • LOC124174292:Sharpr-MPRA regulatory region 5310 [Gene]
  • LOC124174295:Sharpr-MPRA regulatory region 7239 [Gene]
  • TSPYL5:TSPY like 5 [Gene - OMIM - HGNC]
  • UQCRB-AS1:UQCRB antisense RNA 1 [Gene - HGNC]
  • VIRMA-DT:VIRMA divergent transcript [Gene - HGNC]
  • CDH17:cadherin 17 [Gene - OMIM - HGNC]
  • CPQ:carboxypeptidase Q [Gene - OMIM - HGNC]
  • CFAP418:cilia and flagella associated protein 418 [Gene - OMIM - HGNC]
  • CCNE2:cyclin E2 [Gene - OMIM - HGNC]
  • DPY19L4:dpy-19 like 4 [Gene - OMIM - HGNC]
  • ESRP1:epithelial splicing regulatory protein 1 [Gene - OMIM - HGNC]
  • FSBP:fibrinogen silencer binding protein [Gene - OMIM - HGNC]
  • GDF6:growth differentiation factor 6 [Gene - OMIM - HGNC]
  • INTS8:integrator complex subunit 8 [Gene - OMIM - HGNC]
  • LINC01298:long intergenic non-protein coding RNA 1298 [Gene - HGNC]
  • LINC02894:long intergenic non-protein coding RNA 2894 [Gene - HGNC]
  • LINC02906:long intergenic non-protein coding RNA 2906 [Gene - HGNC]
  • LAPTM4B:lysosomal protein transmembrane 4 beta [Gene - OMIM - HGNC]
  • LOC107457586:meiotic recombination hotspot K [Gene]
  • MTDH:metadherin [Gene - OMIM - HGNC]
  • MIR3150A:microRNA 3150a [Gene - HGNC]
  • MIR3150B:microRNA 3150b [Gene - HGNC]
  • MIR378D2:microRNA 378d-2 [Gene - HGNC]
  • MIR8084:microRNA 8084 [Gene - HGNC]
  • MTERF3:mitochondrial transcription termination factor 3 [Gene - OMIM - HGNC]
  • PTDSS1:phosphatidylserine synthase 1 [Gene - OMIM - HGNC]
  • PLEKHF2:pleckstrin homology and FYVE domain containing 2 [Gene - OMIM - HGNC]
  • PDP1:pyruvate dehydrogenase phosphatase catalytic subunit 1 [Gene - OMIM - HGNC]
  • SNORD3H:small nucleolar RNA, C/D box 3H [Gene - HGNC]
  • SDC2:syndecan 2 [Gene - OMIM - HGNC]
  • TRS-AGA2-5:tRNA-Ser (anticodon AGA) 2-5 [Gene - HGNC]
  • TMEM67:transmembrane protein 67 [Gene - OMIM - HGNC]
  • TRIQK:triple QxxK/R motif containing [Gene - HGNC]
  • TP53INP1:tumor protein p53 inducible nuclear protein 1 [Gene - OMIM - HGNC]
  • UQCRB:ubiquinol-cytochrome c reductase binding protein [Gene - OMIM - HGNC]
  • LOC101927066:uncharacterized LOC101927066 [Gene]
  • LOC102724804:uncharacterized LOC102724804 [Gene]
  • FLJ46284:uncharacterized LOC441369 [Gene]
  • VIRMA:vir like m6A methyltransferase associated [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
8q22.1
Genomic location:
Preferred name:
GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1
HGVS:
  • NC_000008.11:g.(?_92755532)_(97792132_?)del
  • NC_000008.10:g.(?_93767760)_(98804360_?)del
  • NC_000008.9:g.(?_93836936)_(98873536_?)del
Links:
dbVar: nssv578288; dbVar: nsv532933
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
SCV000081643ISCA 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, SCV000081643.4

#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