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GRCh38/hg38 8p12(chr8:30368765-36421541)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 27, 2013
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:
RCV000139926.7

Allele description [Variation Report for GRCh38/hg38 8p12(chr8:30368765-36421541)x3]

GRCh38/hg38 8p12(chr8:30368765-36421541)x3

Genes:
  • LOC130000163:ATAC-STARR-seq lymphoblastoid active region 27212 [Gene]
  • LOC130000167:ATAC-STARR-seq lymphoblastoid active region 27213 [Gene]
  • LOC130000172:ATAC-STARR-seq lymphoblastoid active region 27214 [Gene]
  • LOC130000179:ATAC-STARR-seq lymphoblastoid active region 27216 [Gene]
  • LOC130000180:ATAC-STARR-seq lymphoblastoid active region 27217 [Gene]
  • LOC130000182:ATAC-STARR-seq lymphoblastoid active region 27218 [Gene]
  • LOC130000185:ATAC-STARR-seq lymphoblastoid active region 27220 [Gene]
  • LOC130000187:ATAC-STARR-seq lymphoblastoid active region 27221 [Gene]
  • LOC130000189:ATAC-STARR-seq lymphoblastoid active region 27222 [Gene]
  • LOC130000164:ATAC-STARR-seq lymphoblastoid silent region 19077 [Gene]
  • LOC130000165:ATAC-STARR-seq lymphoblastoid silent region 19078 [Gene]
  • LOC130000166:ATAC-STARR-seq lymphoblastoid silent region 19079 [Gene]
  • LOC130000168:ATAC-STARR-seq lymphoblastoid silent region 19080 [Gene]
  • LOC130000169:ATAC-STARR-seq lymphoblastoid silent region 19082 [Gene]
  • LOC130000170:ATAC-STARR-seq lymphoblastoid silent region 19083 [Gene]
  • LOC130000171:ATAC-STARR-seq lymphoblastoid silent region 19084 [Gene]
  • LOC130000173:ATAC-STARR-seq lymphoblastoid silent region 19085 [Gene]
  • LOC130000174:ATAC-STARR-seq lymphoblastoid silent region 19086 [Gene]
  • LOC130000175:ATAC-STARR-seq lymphoblastoid silent region 19087 [Gene]
  • LOC130000176:ATAC-STARR-seq lymphoblastoid silent region 19088 [Gene]
  • LOC130000177:ATAC-STARR-seq lymphoblastoid silent region 19091 [Gene]
  • LOC130000178:ATAC-STARR-seq lymphoblastoid silent region 19093 [Gene]
  • LOC130000181:ATAC-STARR-seq lymphoblastoid silent region 19094 [Gene]
  • LOC130000183:ATAC-STARR-seq lymphoblastoid silent region 19095 [Gene]
  • LOC130000184:ATAC-STARR-seq lymphoblastoid silent region 19096 [Gene]
  • LOC130000186:ATAC-STARR-seq lymphoblastoid silent region 19098 [Gene]
  • LOC130000188:ATAC-STARR-seq lymphoblastoid silent region 19099 [Gene]
  • LOC130000190:ATAC-STARR-seq lymphoblastoid silent region 19100 [Gene]
  • LOC130000191:ATAC-STARR-seq lymphoblastoid silent region 19101 [Gene]
  • LOC130000192:ATAC-STARR-seq lymphoblastoid silent region 19102 [Gene]
  • LOC130000193:ATAC-STARR-seq lymphoblastoid silent region 19103 [Gene]
  • LOC130000194:ATAC-STARR-seq lymphoblastoid silent region 19104 [Gene]
  • LOC126860343:BRD4-independent group 4 enhancer GRCh37_chr8:31165622-31166821 [Gene]
  • LOC126860344:BRD4-independent group 4 enhancer GRCh37_chr8:32490269-32491468 [Gene]
  • LOC126860346:BRD4-independent group 4 enhancer GRCh37_chr8:32617179-32618378 [Gene]
  • LOC126860353:BRD4-independent group 4 enhancer GRCh37_chr8:35717700-35718899 [Gene]
  • LOC126860350:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:34939898-34941097 [Gene]
  • LOC126860352:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:35686142-35687341 [Gene]
  • LOC116186926:CRISPRi-validated cis-regulatory element chr8.1136 [Gene]
  • MAK16:MAK16 homolog [Gene - HGNC]
  • LOC126860342:MED14-independent group 3 enhancer GRCh37_chr8:31029565-31030764 [Gene]
  • LOC126860345:MED14-independent group 3 enhancer GRCh37_chr8:32500376-32501575 [Gene]
  • LOC126860347:MED14-independent group 3 enhancer GRCh37_chr8:32986477-32987676 [Gene]
  • LOC126860348:MED14-independent group 3 enhancer GRCh37_chr8:33612557-33613756 [Gene]
  • LOC129389976:MPRA-validated peak6979 silencer [Gene]
  • LOC129389977:MPRA-validated peak6984 silencer [Gene]
  • LOC129389978:MPRA-validated peak6988 silencer [Gene]
  • LOC129389979:MPRA-validated peak6990 silencer [Gene]
  • LOC129389980:MPRA-validated peak6991 silencer [Gene]
  • NRG1-IT1:NRG1 intronic transcript 1 [Gene - HGNC]
  • NRG1-IT3:NRG1 intronic transcript 3 [Gene - HGNC]
  • LOC132089599:Neanderthal introgressed variant-containing enhancer experimental_103242 [Gene]
  • LOC132089600:Neanderthal introgressed variant-containing enhancer experimental_103270 [Gene]
  • LOC132089601:Neanderthal introgressed variant-containing enhancer experimental_103276 [Gene]
  • LOC126860349:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:34714442-34715641 [Gene]
  • LOC126860351:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:35344139-35345338 [Gene]
  • RBPMS-AS1:RBPMS antisense RNA 1 [Gene - HGNC]
  • RBPMS:RNA binding protein, mRNA processing factor [Gene - OMIM - HGNC]
  • LOC124153141:Sharpr-MPRA regulatory region 14794 [Gene]
  • LOC113788276:Sharpr-MPRA regulatory region 2547 [Gene]
  • LOC124153139:Sharpr-MPRA regulatory region 3907 [Gene]
  • LOC124153138:Sharpr-MPRA regulatory region 541 [Gene]
  • LOC124153140:Sharpr-MPRA regulatory region 6165 [Gene]
  • LOC114004413:Sharpr-MPRA regulatory region 7305 [Gene]
  • TTI2:TELO2 interacting protein 2 [Gene - OMIM - HGNC]
  • UBXN8:UBX domain protein 8 [Gene - OMIM - HGNC]
  • LOC110121192:VISTA enhancer hs1715 [Gene]
  • WRN:WRN RecQ like helicase [Gene - OMIM - HGNC]
  • DUSP26:dual specificity phosphatase 26 [Gene - OMIM - HGNC]
  • FUT10:fucosyltransferase 10 [Gene - OMIM - HGNC]
  • GTF2E2:general transcription factor IIE subunit 2 [Gene - OMIM - HGNC]
  • GSR:glutathione-disulfide reductase [Gene - OMIM - HGNC]
  • LOC108004525:heart enhancer 24 [Gene]
  • LINC01288:long intergenic non-protein coding RNA 1288 [Gene - HGNC]
  • NRG1:neuregulin 1 [Gene - OMIM - HGNC]
  • PPP2CB:protein phosphatase 2 catalytic subunit beta [Gene - OMIM - HGNC]
  • PURG:purine rich element binding protein G [Gene - OMIM - HGNC]
  • RNF122:ring finger protein 122 [Gene - OMIM - HGNC]
  • SMIM18:small integral membrane protein 18 [Gene - HGNC]
  • SNORD13:small nucleolar RNA, C/D box 13 [Gene - OMIM - HGNC]
  • TEX15:testis expressed 15, meiosis and synapsis associated [Gene - OMIM - HGNC]
  • UNC5D:unc-5 netrin receptor D [Gene - OMIM - HGNC]
  • LOC101929550:uncharacterized LOC101929550 [Gene]
  • LOC105379362:uncharacterized LOC105379362 [Gene]
  • LOC128092250:uncharacterized LOC128092250 [Gene]
Variant type:
copy number gain
Cytogenetic location:
8p12
Genomic location:
Preferred name:
GRCh38/hg38 8p12(chr8:30368765-36421541)x3
HGVS:
  • NC_000008.11:g.(?_30368765)_(36421541_?)dup
  • NC_000008.10:g.(?_30226281)_(36279059_?)dup
  • NC_000008.9:g.(?_30345823)_(36398222_?)dup
Links:
dbVar: nssv1608897; dbVar: nsv931077
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
SCV000180575ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Sep 27, 2013) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not 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, SCV000180575.4

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

Last Updated: May 7, 2024