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GRCh38/hg38 7q34(chr7:142237788-142779344)x3 AND See cases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 4, 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:
RCV000137716.5

Allele description [Variation Report for GRCh38/hg38 7q34(chr7:142237788-142779344)x3]

GRCh38/hg38 7q34(chr7:142237788-142779344)x3

Genes:
  • LOC126860207:BRD4-independent group 4 enhancer GRCh37_chr7:141945363-141946562 [Gene]
  • LOC126860208:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:142190619-142191818 [Gene]
  • LOC129389904:MPRA-validated peak6801 silencer [Gene]
  • MTRNR2L6:MT-RNR2 like 6 [Gene - HGNC]
  • LOC123956253:Sharpr-MPRA regulatory region 11750 [Gene]
  • LOC121201615:Sharpr-MPRA regulatory region 1556/5446 [Gene]
  • LOC123956254:Sharpr-MPRA regulatory region 352 [Gene]
  • LOC113687199:Sharpr-MPRA regulatory region 9540 [Gene]
  • TRB:T cell receptor beta locus [Gene - HGNC]
  • TRBV10-1:T cell receptor beta variable 10-1 [Gene - HGNC]
  • TRBV10-2:T cell receptor beta variable 10-2 [Gene - HGNC]
  • TRBV10-3:T cell receptor beta variable 10-3 [Gene - HGNC]
  • TRBV11-1:T cell receptor beta variable 11-1 [Gene - HGNC]
  • TRBV11-2:T cell receptor beta variable 11-2 [Gene - HGNC]
  • TRBV11-3:T cell receptor beta variable 11-3 [Gene - HGNC]
  • TRBV12-3:T cell receptor beta variable 12-3 [Gene - HGNC]
  • TRBV12-4:T cell receptor beta variable 12-4 [Gene - HGNC]
  • TRBV12-5:T cell receptor beta variable 12-5 [Gene - HGNC]
  • TRBV13:T cell receptor beta variable 13 [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]
  • TRBV2:T cell receptor beta variable 2 [Gene - HGNC]
  • TRBV3-1:T cell receptor beta variable 3-1 [Gene - HGNC]
  • TRBV4-1:T cell receptor beta variable 4-1 [Gene - HGNC]
  • TRBV4-2:T cell receptor beta variable 4-2 [Gene - HGNC]
  • TRBV5-1:T cell receptor beta variable 5-1 [Gene - HGNC]
  • TRBV5-4:T cell receptor beta variable 5-4 [Gene - HGNC]
  • TRBV5-5:T cell receptor beta variable 5-5 [Gene - HGNC]
  • TRBV5-6:T cell receptor beta variable 5-6 [Gene - HGNC]
  • TRBV5-7:T cell receptor beta variable 5-7 (non-functional) [Gene - HGNC]
  • TRBV6-1:T cell receptor beta variable 6-1 [Gene - HGNC]
  • TRBV6-3:T cell receptor beta variable 6-3 [Gene - HGNC]
  • TRBV6-4:T cell receptor beta variable 6-4 [Gene - HGNC]
  • TRBV6-5:T cell receptor beta variable 6-5 [Gene - HGNC]
  • TRBV6-6:T cell receptor beta variable 6-6 [Gene - HGNC]
  • TRBV6-8:T cell receptor beta variable 6-8 [Gene - HGNC]
  • TRBV7-2:T cell receptor beta variable 7-2 [Gene - HGNC]
  • TRBV7-3:T cell receptor beta variable 7-3 [Gene - HGNC]
  • TRBV7-4:T cell receptor beta variable 7-4 [Gene - HGNC]
  • TRBV7-6:T cell receptor beta variable 7-6 [Gene - HGNC]
  • TRBV7-7:T cell receptor beta variable 7-7 [Gene - HGNC]
  • TRBV7-9:T cell receptor beta variable 7-9 [Gene - HGNC]
  • TRBV9:T cell receptor beta variable 9 [Gene - HGNC]
  • MIR11400:microRNA 11400 [Gene - HGNC]
  • PRSS1:serine protease 1 [Gene - OMIM - HGNC]
  • PRSS2:serine protease 2 [Gene - OMIM - HGNC]
  • PRSS58:serine protease 58 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
7q34
Genomic location:
Preferred name:
GRCh38/hg38 7q34(chr7:142237788-142779344)x3
HGVS:
  • NC_000007.14:g.(?_142237788)_(142779344_?)dup
  • NC_000007.12:g.(?_141584064)_(142187156_?)dup
  • NW_003571040.1:g.(?_379741)_(982389_?)dup
Links:
dbVar: nssv1495667; dbVar: nsv868892
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
SCV000177963ISCA site 1

See additional submitters

no assertion criteria provided
Likely benign
(Nov 4, 2011) 		paternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not 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, SCV000177963.4

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

Last Updated: May 7, 2024