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GRCh38/hg38 8p23.3-23.2(chr8:226452-3189683)x1 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 21, 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:
RCV000137258.5

Allele description [Variation Report for GRCh38/hg38 8p23.3-23.2(chr8:226452-3189683)x1]

GRCh38/hg38 8p23.3-23.2(chr8:226452-3189683)x1

Genes:
  • LOC129999771:ATAC-STARR-seq lymphoblastoid active region 26938 [Gene]
  • LOC129999772:ATAC-STARR-seq lymphoblastoid active region 26939 [Gene]
  • LOC129999773:ATAC-STARR-seq lymphoblastoid active region 26940 [Gene]
  • LOC129999774:ATAC-STARR-seq lymphoblastoid active region 26941 [Gene]
  • LOC129999775:ATAC-STARR-seq lymphoblastoid active region 26942 [Gene]
  • LOC129999777:ATAC-STARR-seq lymphoblastoid active region 26944 [Gene]
  • LOC129999778:ATAC-STARR-seq lymphoblastoid active region 26945 [Gene]
  • LOC129999770:ATAC-STARR-seq lymphoblastoid silent region 18877 [Gene]
  • LOC129999776:ATAC-STARR-seq lymphoblastoid silent region 18878 [Gene]
  • LOC126860276:BRD4-independent group 4 enhancer GRCh37_chr8:1580608-1581807 [Gene]
  • LOC126860280:BRD4-independent group 4 enhancer GRCh37_chr8:1854442-1855641 [Gene]
  • LOC126860282:BRD4-independent group 4 enhancer GRCh37_chr8:2053383-2054582 [Gene]
  • LOC126088091:BRD4-independent group 4 enhancer GRCh37_chr8:2206168-2207367 duplicate 1 [Gene]
  • LOC126088092:BRD4-independent group 4 enhancer GRCh37_chr8:2206168-2207367 duplicate 2 [Gene]
  • LOC126860285:BRD4-independent group 4 enhancer GRCh37_chr8:2964721-2965920 [Gene]
  • LOC126860267:BRD4-independent group 4 enhancer GRCh37_chr8:914952-916151 [Gene]
  • LOC126860268:BRD4-independent group 4 enhancer GRCh37_chr8:945571-946770 [Gene]
  • LOC126860269:BRD4-independent group 4 enhancer GRCh37_chr8:963216-964415 [Gene]
  • LOC126860270:BRD4-independent group 4 enhancer GRCh37_chr8:966834-968033 [Gene]
  • LOC126860271:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1106443-1107642 [Gene]
  • LOC126860273:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1265413-1266612 [Gene]
  • LOC126860274:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1403885-1405084 [Gene]
  • LOC126860275:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1552920-1554119 [Gene]
  • LOC126860278:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1748222-1749421 [Gene]
  • LOC126860279:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1791725-1792924 [Gene]
  • LOC126860281:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1870370-1871569 [Gene]
  • LOC126264116:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:2049318-2050517 [Gene]
  • LOC126860283:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:2362643-2363842 [Gene]
  • LOC126860284:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:2734767-2735966 [Gene]
  • CLN8-AS1:CLN8 antisense RNA 1 [Gene - HGNC]
  • CLN8:CLN8 transmembrane ER and ERGIC protein [Gene - OMIM - HGNC]
  • CSMD1:CUB and Sushi multiple domains 1 [Gene - OMIM - HGNC]
  • DLGAP2:DLG associated protein 2 [Gene - OMIM - HGNC]
  • DLGAP2-AS1:DLGAP2 antisense RNA 1 [Gene - HGNC]
  • FBXO25:F-box protein 25 [Gene - OMIM - HGNC]
  • KBTBD11-AS1:KBTBD11 antisense RNA 1 [Gene - HGNC]
  • KBTBD11-OT1:KBTBD11 overlapping transcript 1 [Gene - HGNC]
  • LOC126860286:MED14-independent group 3 enhancer GRCh37_chr8:3025942-3027141 [Gene]
  • LOC129389951:MPRA-validated peak6884 silencer [Gene]
  • LOC129389952:MPRA-validated peak6885 silencer [Gene]
  • LOC132089596:Neanderthal introgressed variant-containing enhancer experimental_102978 [Gene]
  • LOC126860272:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:1137192-1138391 [Gene]
  • LOC126860277:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:1703542-1704741 [Gene]
  • LOC126860266:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:580473-581672 [Gene]
  • ARHGEF10:Rho guanine nucleotide exchange factor 10 [Gene - OMIM - HGNC]
  • LOC123987607:Sharpr-MPRA regulatory region 12422 [Gene]
  • LOC123987606:Sharpr-MPRA regulatory region 1960 [Gene]
  • LOC123987604:Sharpr-MPRA regulatory region 700 [Gene]
  • LOC123987608:Sharpr-MPRA regulatory region 746 [Gene]
  • LOC121740708:Sharpr-MPRA regulatory region 8503 [Gene]
  • LOC123987609:Sharpr-MPRA regulatory region 9194 [Gene]
  • LOC123987605:Sharpr-MPRA regulatory region 9258 [Gene]
  • LOC114827837:VISTA enhancer hs2514 [Gene]
  • LOC106783493:conserved acetylation island sequence 7 enhancer [Gene]
  • FAM87A:family with sequence similarity 87 member A [Gene - HGNC]
  • ERICH1:glutamate rich 1 [Gene - HGNC]
  • KBTBD11:kelch repeat and BTB domain containing 11 [Gene - OMIM - HGNC]
  • LINC03021:long intergenic non-protein coding RNA 3021 [Gene - HGNC]
  • MIR3674:microRNA 3674 [Gene - HGNC]
  • MIR596:microRNA 596 [Gene - HGNC]
  • MIR7160:microRNA 7160 [Gene - HGNC]
  • MYOM2:myomesin 2 [Gene - OMIM - HGNC]
  • TDRP:testis development related protein [Gene - OMIM - HGNC]
  • LOC105377777:uncharacterized LOC105377777 [Gene]
  • LOC105377785:uncharacterized LOC105377785 [Gene]
  • LOC286083:uncharacterized LOC286083 [Gene]
  • LOC401442:uncharacterized LOC401442 [Gene]
  • ZNF596:zinc finger protein 596 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
8p23.3-23.2
Genomic location:
Preferred name:
GRCh38/hg38 8p23.3-23.2(chr8:226452-3189683)x1
HGVS:
  • NC_000008.11:g.(?_226452)_(3189683_?)del
  • NC_000008.10:g.(?_176452)_(3047205_?)del
  • NC_000008.9:g.(?_166452)_(3034612_?)del
Links:
dbVar: nssv1415045; dbVar: nsv817180
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
SCV000177474ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Mar 21, 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 1, SCV000177474.4

#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