GRCh37/hg19 7q34(chr7:141937588-142486548)x3 AND See cases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 18, 2014
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:: RCV000143759.5

Allele description [Variation Report for GRCh37/hg19 7q34(chr7:141937588-142486548)x3]

GRCh37/hg19 7q34(chr7:141937588-142486548)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]
TRBV4-3:T cell receptor beta variable 4-3 [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]
TRBV5-8:T cell receptor beta variable 5-8 [Gene - HGNC]
TRBV6-1:T cell receptor beta variable 6-1 [Gene - HGNC]
TRBV6-2:T cell receptor beta variable 6-2 [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]
TRBV6-9:T cell receptor beta variable 6-9 [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]
TRBV7-8:T cell receptor beta variable 7-8 [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]
PRSS58:serine protease 58 [Gene - HGNC]

Variant type:

copy number gain

Cytogenetic location:

7q34

Genomic location:

Preferred name:

GRCh37/hg19 7q34(chr7:141937588-142486548)x3

HGVS:

NC_000007.13:g.(?_141937588)_(142486548_?)dup

Links:

dbVar: nssv3395415; dbVar: nsv996221

Observations:

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

Recent activity

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Rhinolophus simulator complex sp. 1 TD-2019 voucher FMNH:211641 acyl-CoA oxidase...
Rhinolophus simulator complex sp. 1 TD-2019 voucher FMNH:211641 acyl-CoA oxidase 2 (ACOX2) gene, intron 3
gi|1735123347|gb|MN025848.1|

Nucleotide
Brachyglanis sp. 5 DRFF-2021 voucher T09181 glycosyltransferase (GLYT) gene, par...
Brachyglanis sp. 5 DRFF-2021 voucher T09181 glycosyltransferase (GLYT) gene, partial cds
gi|2044092840|gb|MW877414.1|

Nucleotide
Prominent nucleoli of renal tubular epithelial cells
Prominent nucleoli of renal tubular epithelial cells

MedGen
Multinucleation of renal tubular epithelial cells
Multinucleation of renal tubular epithelial cells

MedGen
Photobleaching
Photobleaching
Light-induced change in a chromophore, resulting in the loss of its absorption of light of a particular wave length. The photon energy causes a conformational change in the ph...<br/>Year introduced: 2003

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000183651	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Uncertain significance (Mar 18, 2014)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000183651

ISCA site 1

See additional submitters

no assertion criteria provided

Uncertain significance
(Mar 18, 2014)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	yes	1	not provided	not provided	not provided	not provided	clinical 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, SCV000183651.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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Relating variation to medicine