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GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 22, 2015
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:
RCV000141756.6

Allele description [Variation Report for GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1]

GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1

Genes:
  • LOC114841038:5K-Del enhancer in SHFM1 region [Gene]
  • LOC129998809:ATAC-STARR-seq lymphoblastoid active region 26273 [Gene]
  • LOC129998811:ATAC-STARR-seq lymphoblastoid active region 26276 [Gene]
  • LOC129998813:ATAC-STARR-seq lymphoblastoid active region 26277 [Gene]
  • LOC129998814:ATAC-STARR-seq lymphoblastoid active region 26278 [Gene]
  • LOC129998815:ATAC-STARR-seq lymphoblastoid active region 26279 [Gene]
  • LOC129998816:ATAC-STARR-seq lymphoblastoid active region 26280 [Gene]
  • LOC129998817:ATAC-STARR-seq lymphoblastoid active region 26281 [Gene]
  • LOC129998818:ATAC-STARR-seq lymphoblastoid active region 26282 [Gene]
  • LOC129998819:ATAC-STARR-seq lymphoblastoid active region 26283 [Gene]
  • LOC129998820:ATAC-STARR-seq lymphoblastoid active region 26284 [Gene]
  • LOC129998821:ATAC-STARR-seq lymphoblastoid active region 26287 [Gene]
  • LOC129998823:ATAC-STARR-seq lymphoblastoid active region 26288 [Gene]
  • LOC129998824:ATAC-STARR-seq lymphoblastoid active region 26289 [Gene]
  • LOC129998825:ATAC-STARR-seq lymphoblastoid active region 26290 [Gene]
  • LOC129998826:ATAC-STARR-seq lymphoblastoid active region 26291 [Gene]
  • LOC129998828:ATAC-STARR-seq lymphoblastoid active region 26292 [Gene]
  • LOC129998830:ATAC-STARR-seq lymphoblastoid active region 26294 [Gene]
  • LOC129998831:ATAC-STARR-seq lymphoblastoid active region 26295 [Gene]
  • LOC129998832:ATAC-STARR-seq lymphoblastoid active region 26296 [Gene]
  • LOC129998834:ATAC-STARR-seq lymphoblastoid active region 26297 [Gene]
  • LOC129998835:ATAC-STARR-seq lymphoblastoid active region 26298 [Gene]
  • LOC129998837:ATAC-STARR-seq lymphoblastoid active region 26299 [Gene]
  • LOC129998838:ATAC-STARR-seq lymphoblastoid active region 26300 [Gene]
  • LOC129998839:ATAC-STARR-seq lymphoblastoid active region 26301 [Gene]
  • LOC129998840:ATAC-STARR-seq lymphoblastoid active region 26302 [Gene]
  • LOC129998810:ATAC-STARR-seq lymphoblastoid silent region 18375 [Gene]
  • LOC129998812:ATAC-STARR-seq lymphoblastoid silent region 18376 [Gene]
  • LOC129998822:ATAC-STARR-seq lymphoblastoid silent region 18377 [Gene]
  • LOC129998827:ATAC-STARR-seq lymphoblastoid silent region 18381 [Gene]
  • LOC129998829:ATAC-STARR-seq lymphoblastoid silent region 18382 [Gene]
  • LOC129998833:ATAC-STARR-seq lymphoblastoid silent region 18384 [Gene]
  • LOC129998836:ATAC-STARR-seq lymphoblastoid silent region 18385 [Gene]
  • BET1-AS1:BET1 antisense RNA 1 [Gene - HGNC]
  • LOC126860106:BRD4-independent group 4 enhancer GRCh37_chr7:92651586-92652785 [Gene]
  • LOC126860113:BRD4-independent group 4 enhancer GRCh37_chr7:95005217-95006416 [Gene]
  • BET1:Bet1 golgi vesicular membrane trafficking protein [Gene - OMIM - HGNC]
  • CASD1:CAS1 domain containing 1 [Gene - OMIM - HGNC]
  • CDK6-AS1:CDK6 antisense RNA 1 [Gene - HGNC]
  • LOC126860110:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:93929568-93930767 [Gene]
  • LOC126860111:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:94506840-94508039 [Gene]
  • LOC126860112:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:94897970-94899169 [Gene]
  • LOC126860114:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:95099762-95100961 [Gene]
  • LOC126860115:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:95405912-95407111 [Gene]
  • LOC126860116:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:96650255-96651454 [Gene]
  • COL1A2-AS1:COL1A2 antisense RNA 1 [Gene - HGNC]
  • LOC116183092:CRISPRi-validated cis-regulatory element chr7.3172 [Gene]
  • DLX6-AS1:DLX6 antisense RNA 1 [Gene - HGNC]
  • GNG11:G protein subunit gamma 11 [Gene - OMIM - HGNC]
  • GNGT1:G protein subunit gamma transducin 1 [Gene - OMIM - HGNC]
  • HEPACAM2:HEPACAM family member 2 [Gene - OMIM - HGNC]
  • LOC111365161:MED14-independent group 3 enhancer GRCh37_chr7:92438696-92439895 [Gene]
  • LOC126860109:MED14-independent group 3 enhancer GRCh37_chr7:93689611-93690810 [Gene]
  • LOC126860117:MED14-independent group 3 enhancer GRCh37_chr7:97029703-97030902 [Gene]
  • LOC129389827:MPRA-validated peak6637 silencer [Gene]
  • LOC129389828:MPRA-validated peak6645 silencer [Gene]
  • LOC126860107:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:92737283-92738482 [Gene]
  • LOC126860108:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:93543651-93544850 [Gene]
  • PPP1R9A-AS1:PPP1R9A antisense RNA 1 [Gene - HGNC]
  • SEM1:SEM1 26S proteasome subunit [Gene - OMIM - HGNC]
  • LOC113748419:Sharpr-MPRA regulatory region 10642 [Gene]
  • LOC123956183:Sharpr-MPRA regulatory region 10792 [Gene]
  • LOC121740691:Sharpr-MPRA regulatory region 1852 [Gene]
  • LOC123956179:Sharpr-MPRA regulatory region 3033 [Gene]
  • LOC123956181:Sharpr-MPRA regulatory region 3069 [Gene]
  • LOC113748418:Sharpr-MPRA regulatory region 3394 [Gene]
  • LOC123956180:Sharpr-MPRA regulatory region 6047 [Gene]
  • LOC113748417:Sharpr-MPRA regulatory region 6132 [Gene]
  • LOC123956182:Sharpr-MPRA regulatory region 6945 [Gene]
  • TFPI2-DT:TFPI2 divergent transcript [Gene - HGNC]
  • LOC110121164:VISTA enhancer hs1626 [Gene]
  • LOC110121172:VISTA enhancer hs1642 [Gene]
  • LOC110121212:VISTA enhancer hs1831 [Gene]
  • LOC114827835:VISTA enhancer hs2505 [Gene]
  • LOC110120653:VISTA enhancer hs298 [Gene]
  • VPS50:VPS50 subunit of EARP/GARPII complex [Gene - OMIM - HGNC]
  • ASB4:ankyrin repeat and SOCS box containing 4 [Gene - OMIM - HGNC]
  • CALCR:calcitonin receptor [Gene - OMIM - HGNC]
  • C7orf76:chromosome 7 open reading frame 76 [Gene - HGNC]
  • COL1A2:collagen type I alpha 2 chain [Gene - OMIM - HGNC]
  • CDK6:cyclin dependent kinase 6 [Gene - OMIM - HGNC]
  • DLX5:distal-less homeobox 5 [Gene - OMIM - HGNC]
  • DLX6:distal-less homeobox 6 [Gene - OMIM - HGNC]
  • DYNC1I1:dynein cytoplasmic 1 intermediate chain 1 [Gene - OMIM - HGNC]
  • LOC114827812:eDlx#14 enhancer in SHFM1 region [Gene]
  • LOC114827813:eDlx#16 enhancer in SHFM1 region [Gene]
  • LOC110121294:eDlx#18 enhancer in SHFM1 region [Gene]
  • LOC110121295:eDlx#19 enhancer in SHFM1 region [Gene]
  • LOC110121296:eDlx#23 enhancer in SHFM1 region [Gene]
  • LOC114827814:eDlx#24 enhancer in SHFM1 region [Gene]
  • LOC114827815:eDlx#26 enhancer in SHFM1 region [Gene]
  • LOC114827816:eDlx#27 enhancer in SHFM1 region [Gene]
  • LOC114827811:eDlx#8 enhancer in SHFM1 region [Gene]
  • LOC110121292:eExon 15 DLX5/6 limb enhancer [Gene]
  • LOC110121293:eExon 17 DLX5/6 limb enhancer [Gene]
  • MIR4652:microRNA 4652 [Gene - HGNC]
  • MIR489:microRNA 489 [Gene - OMIM - HGNC]
  • MIR591:microRNA 591 [Gene - HGNC]
  • MIR653:microRNA 653 [Gene - HGNC]
  • PON1:paraoxonase 1 [Gene - OMIM - HGNC]
  • PON2:paraoxonase 2 [Gene - OMIM - HGNC]
  • PON3:paraoxonase 3 [Gene - OMIM - HGNC]
  • PEG10:paternally expressed 10 [Gene - OMIM - HGNC]
  • PPP1R9A:protein phosphatase 1 regulatory subunit 9A [Gene - OMIM - HGNC]
  • PDK4:pyruvate dehydrogenase kinase 4 [Gene - OMIM - HGNC]
  • SGCE:sarcoglycan epsilon [Gene - OMIM - HGNC]
  • SLC25A13:solute carrier family 25 member 13 [Gene - OMIM - HGNC]
  • SAMD9L:sterile alpha motif domain containing 9 like [Gene - OMIM - HGNC]
  • SAMD9:sterile alpha motif domain containing 9 [Gene - OMIM - HGNC]
  • SDHAF3:succinate dehydrogenase complex assembly factor 3 [Gene - OMIM - HGNC]
  • TFPI2:tissue factor pathway inhibitor 2 [Gene - OMIM - HGNC]
  • LOC130890646:uncharacterized LOC130890646 [Gene]
Variant type:
copy number loss
Cytogenetic location:
7q21.2-21.3
Genomic location:
Preferred name:
GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1
HGVS:
  • NC_000007.14:g.(?_92759144)_(97568646_?)del
  • NC_000007.12:g.(?_92226394)_(97035894_?)del
  • NC_000007.13:g.(?_92388458)_(97197958_?)del
Links:
dbVar: nssv3396882; dbVar: nsv995315
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
SCV000182739ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Jun 22, 2015) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humande 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 1, SCV000182739.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024