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GRCh38/hg38 7q34-35(chr7:142578948-144254897)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:
RCV000050639.5

Allele description [Variation Report for GRCh38/hg38 7q34-35(chr7:142578948-144254897)x1]

GRCh38/hg38 7q34-35(chr7:142578948-144254897)x1

Genes:
  • ARHGEF35-AS1:ARHGEF35 antisense RNA 1 [Gene - HGNC]
  • LOC129999513:ATAC-STARR-seq lymphoblastoid active region 26790 [Gene]
  • LOC129999517:ATAC-STARR-seq lymphoblastoid active region 26792 [Gene]
  • LOC129999522:ATAC-STARR-seq lymphoblastoid active region 26794 [Gene]
  • LOC129999523:ATAC-STARR-seq lymphoblastoid active region 26795 [Gene]
  • LOC129999514:ATAC-STARR-seq lymphoblastoid silent region 18719 [Gene]
  • LOC129999515:ATAC-STARR-seq lymphoblastoid silent region 18720 [Gene]
  • LOC129999516:ATAC-STARR-seq lymphoblastoid silent region 18721 [Gene]
  • LOC129999518:ATAC-STARR-seq lymphoblastoid silent region 18724 [Gene]
  • LOC129999519:ATAC-STARR-seq lymphoblastoid silent region 18725 [Gene]
  • LOC129999520:ATAC-STARR-seq lymphoblastoid silent region 18726 [Gene]
  • LOC129999521:ATAC-STARR-seq lymphoblastoid silent region 18727 [Gene]
  • LOC129999524:ATAC-STARR-seq lymphoblastoid silent region 18728 [Gene]
  • LOC126860209:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:142745637-142746836 [Gene]
  • LOC116186914:CRISPRi-validated cis-regulatory element chr7.5162 [Gene]
  • LOC116186916:CRISPRi-validated cis-regulatory element chr7.5168 [Gene]
  • LOC116186917:CRISPRi-validated cis-regulatory element chr7.5193 [Gene]
  • CTAGE15:CTAGE family member 15 [Gene - HGNC]
  • CTAGE4:CTAGE family member 4 [Gene - OMIM - HGNC]
  • CTAGE6:CTAGE family member 6 [Gene - HGNC]
  • EPHA1:EPH receptor A1 [Gene - OMIM - HGNC]
  • EPHB6:EPH receptor B6 [Gene - OMIM - HGNC]
  • EPHA1-AS1:EPHA1 antisense RNA 1 [Gene - HGNC]
  • FAM131B-AS1:FAM131B antisense RNA 1 [Gene - HGNC]
  • FAM131B-AS2:FAM131B antisense RNA 2 [Gene - HGNC]
  • KEL:Kell metallo-endopeptidase (Kell blood group) [Gene - OMIM - HGNC]
  • LLCFC1:LLLL and CFNLAS motif containing 1 [Gene - OMIM - HGNC]
  • LOC126860210:MED14-independent group 3 enhancer GRCh37_chr7:142982077-142983276 [Gene]
  • LOC129389904:MPRA-validated peak6801 silencer [Gene]
  • LOC129389905:MPRA-validated peak6804 silencer [Gene]
  • LOC129389906:MPRA-validated peak6806 silencer [Gene]
  • LOC129389907:MPRA-validated peak6807 silencer [Gene]
  • LOC129389908:MPRA-validated peak6808 silencer [Gene]
  • LOC129389909:MPRA-validated peak6810 silencer [Gene]
  • MTRNR2L6:MT-RNR2 like 6 [Gene - HGNC]
  • OR2A1-AS1:OR2A1 antisense RNA 1 [Gene - HGNC]
  • LOC116186915:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:142506073-142507272 [Gene]
  • LOC126860211:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:143169186-143170385 [Gene]
  • ARHGEF35:Rho guanine nucleotide exchange factor 35 [Gene - HGNC]
  • LOC121201616:Sharpr-MPRA regulatory region 10434 [Gene]
  • LOC123956253:Sharpr-MPRA regulatory region 11750 [Gene]
  • LOC121740701:Sharpr-MPRA regulatory region 12322 [Gene]
  • LOC123956260:Sharpr-MPRA regulatory region 13026 [Gene]
  • LOC123956255:Sharpr-MPRA regulatory region 15349 [Gene]
  • LOC121201615:Sharpr-MPRA regulatory region 1556/5446 [Gene]
  • LOC123956258:Sharpr-MPRA regulatory region 2529 [Gene]
  • LOC123956254:Sharpr-MPRA regulatory region 352 [Gene]
  • LOC123956257:Sharpr-MPRA regulatory region 4117 [Gene]
  • LOC123956259:Sharpr-MPRA regulatory region 6558 [Gene]
  • LOC113687200:Sharpr-MPRA regulatory region 7901 [Gene]
  • TRBC1:T cell receptor beta constant 1 [Gene - OMIM - HGNC]
  • TRBC2:T cell receptor beta constant 2 [Gene - OMIM - HGNC]
  • TRBD1:T cell receptor beta diversity 1 [Gene - OMIM - HGNC]
  • TRBD2:T cell receptor beta diversity 2 [Gene - OMIM - HGNC]
  • TRBJ1-1:T cell receptor beta joining 1-1 [Gene - HGNC]
  • TRBJ1-2:T cell receptor beta joining 1-2 [Gene - HGNC]
  • TRBJ1-3:T cell receptor beta joining 1-3 [Gene - HGNC]
  • TRBJ1-4:T cell receptor beta joining 1-4 [Gene - HGNC]
  • TRBJ1-5:T cell receptor beta joining 1-5 [Gene - HGNC]
  • TRBJ1-6:T cell receptor beta joining 1-6 [Gene - HGNC]
  • TRBJ2-1:T cell receptor beta joining 2-1 [Gene - HGNC]
  • TRBJ2-2:T cell receptor beta joining 2-2 [Gene - HGNC]
  • TRBJ2-3:T cell receptor beta joining 2-3 [Gene - HGNC]
  • TRBJ2-4:T cell receptor beta joining 2-4 [Gene - HGNC]
  • TRBJ2-5:T cell receptor beta joining 2-5 [Gene - HGNC]
  • TRBJ2-6:T cell receptor beta joining 2-6 [Gene - HGNC]
  • TRBJ2-7:T cell receptor beta joining 2-7 [Gene - HGNC]
  • TRB:T cell receptor beta locus [Gene - HGNC]
  • TRBV12-5:T cell receptor beta variable 12-5 [Gene - HGNC]
  • TRBV14:T cell receptor beta variable 14 [Gene - HGNC]
  • TRBV15:T cell receptor beta variable 15 [Gene - HGNC]
  • TRBV17:T cell receptor beta variable 17 (non-functional) [Gene - HGNC]
  • TRBV18:T cell receptor beta variable 18 [Gene - HGNC]
  • TRBV19:T cell receptor beta variable 19 [Gene - HGNC]
  • TRBV20-1:T cell receptor beta variable 20-1 [Gene - HGNC]
  • TRBV24-1:T cell receptor beta variable 24-1 [Gene - HGNC]
  • TRBV25-1:T cell receptor beta variable 25-1 [Gene - HGNC]
  • TRBV27:T cell receptor beta variable 27 [Gene - HGNC]
  • TRBV28:T cell receptor beta variable 28 [Gene - HGNC]
  • TRBV29-1:T cell receptor beta variable 29-1 [Gene - HGNC]
  • TRBV30:T cell receptor beta variable 30 [Gene - HGNC]
  • TMEM139-AS1:TMEM139 antisense RNA 1 [Gene - HGNC]
  • TCAF1:TRPM8 channel associated factor 1 [Gene - OMIM - HGNC]
  • TCAF2:TRPM8 channel associated factor 2 [Gene - OMIM - HGNC]
  • CASP2:caspase 2 [Gene - OMIM - HGNC]
  • CLCN1:chloride voltage-gated channel 1 [Gene - OMIM - HGNC]
  • FAM131B:family with sequence similarity 131 member B [Gene - OMIM - HGNC]
  • GSTK1:glutathione S-transferase kappa 1 [Gene - OMIM - HGNC]
  • MIR6892:microRNA 6892 [Gene - HGNC]
  • OR10AC1:olfactory receptor family 10 subfamily AC member 1 (gene/pseudogene) [Gene - HGNC]
  • OR2A12:olfactory receptor family 2 subfamily A member 12 [Gene - HGNC]
  • OR2A14:olfactory receptor family 2 subfamily A member 14 [Gene - HGNC]
  • OR2A25:olfactory receptor family 2 subfamily A member 25 [Gene - HGNC]
  • OR2A2:olfactory receptor family 2 subfamily A member 2 [Gene - HGNC]
  • OR2A42:olfactory receptor family 2 subfamily A member 42 [Gene - HGNC]
  • OR2A5:olfactory receptor family 2 subfamily A member 5 [Gene - HGNC]
  • OR2F1:olfactory receptor family 2 subfamily F member 1 [Gene - OMIM - HGNC]
  • OR2F2:olfactory receptor family 2 subfamily F member 2 [Gene - HGNC]
  • OR6B1:olfactory receptor family 6 subfamily B member 1 [Gene - HGNC]
  • OR6V1:olfactory receptor family 6 subfamily V member 1 [Gene - HGNC]
  • OR9A2:olfactory receptor family 9 subfamily A member 2 [Gene - HGNC]
  • PIP:prolactin induced protein [Gene - OMIM - HGNC]
  • PRSS1:serine protease 1 [Gene - OMIM - HGNC]
  • PRSS2:serine protease 2 [Gene - OMIM - HGNC]
  • TAS2R39:taste 2 receptor member 39 [Gene - HGNC]
  • TAS2R40:taste 2 receptor member 40 [Gene - OMIM - HGNC]
  • TAS2R41:taste 2 receptor member 41 [Gene - OMIM - HGNC]
  • TAS2R60:taste 2 receptor member 60 [Gene - OMIM - HGNC]
  • TRPV5:transient receptor potential cation channel subfamily V member 5 [Gene - OMIM - HGNC]
  • TRPV6:transient receptor potential cation channel subfamily V member 6 [Gene - OMIM - HGNC]
  • TMEM139:transmembrane protein 139 [Gene - OMIM - HGNC]
  • ZYX:zyxin [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
7q34-35
Genomic location:
Preferred name:
GRCh38/hg38 7q34-35(chr7:142578948-144254897)x1
HGVS:
  • NC_000007.14:g.(?_142578948)_(144254897_?)del
  • NC_000007.12:g.(?_141967554)_(143582923_?)del
  • NC_000007.13:g.(?_142528609)_(143951990_?)del
Links:
dbVar: nssv578220; dbVar: nsv529274
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
SCV000077969ISCA site 4

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 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

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 4, SCV000077969.4

#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