GRCh37/hg19 7q31.1-31.31(chr7:113764678-117694762)x3 AND See cases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 1, 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:: RCV000511301.3

Allele description [Variation Report for GRCh37/hg19 7q31.1-31.31(chr7:113764678-117694762)x3]

GRCh37/hg19 7q31.1-31.31(chr7:113764678-117694762)x3

Genes:

CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
MET:MET proto-oncogene, receptor tyrosine kinase [Gene - OMIM - HGNC]
MDFIC:MyoD family inhibitor domain containing [Gene - OMIM - HGNC]
RNU2-1:RNA, U2 small nuclear 1 [Gene - OMIM - HGNC]
ST7-OT3:ST7 overlapping transcript 3 [Gene - HGNC]
ST7-OT4:ST7 overlapping transcript 4 [Gene - HGNC]
WNT2:Wnt family member 2 [Gene - OMIM - HGNC]
ASZ1:ankyrin repeat, SAM and basic leucine zipper domain containing 1 [Gene - OMIM - HGNC]
CAPZA2:capping actin protein of muscle Z-line subunit alpha 2 [Gene - OMIM - HGNC]
CAV1:caveolin 1 [Gene - OMIM - HGNC]
CAV2:caveolin 2 [Gene - OMIM - HGNC]
CTTNBP2:cortactin binding protein 2 [Gene - OMIM - HGNC]
FOXP2:forkhead box P2 [Gene - OMIM - HGNC]
ST7:suppression of tumorigenicity 7 [Gene - OMIM - HGNC]
TES:testin LIM domain protein [Gene - OMIM - HGNC]
TFEC:transcription factor EC [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

7q31.1-31.31

Genomic location:

Chr7: 113764678 - 117694762 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 7q31.1-31.31(chr7:113764678-117694762)x3

HGVS:

Links:

dbVar: nssv14082393; dbVar: nsv3109749

Observations:

Condition(s)

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

Recent activity

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MAG: Gammaproteobacteria bacterium REDSEA-S08_B8 scaffold15, whole genome shotgu...
MAG: Gammaproteobacteria bacterium REDSEA-S08_B8 scaffold15, whole genome shotgun sequence
gi|1021423590|gb|LUSC01000015.1||gn :LUSC01|scaffold15

Nucleotide
MAG: Gammaproteobacteria bacterium REDSEA-S08_B8 scaffold8, whole genome shotgun...
MAG: Gammaproteobacteria bacterium REDSEA-S08_B8 scaffold8, whole genome shotgun sequence
gi|1021423611|gb|LUSC01000008.1||gn :LUSC01|scaffold8

Nucleotide
Homo sapiens family with sequence similarity 76 member A (FAM76A), transcript va...
Homo sapiens family with sequence similarity 76 member A (FAM76A), transcript variant 3, mRNA
gi|1677530651|ref|NM_152660.3|

Nucleotide
Delphinus delphis delphis voucher KXD0164 isolate SWFSC_MMASTR_78511 mitochondri...
Delphinus delphis delphis voucher KXD0164 isolate SWFSC_MMASTR_78511 mitochondrion, complete genome
gi|2727568700|gb|PP761293.1|

Nucleotide
Delphinus bairdii voucher SBMNH2007-17 isolate SWFSC_MMASTR_76423 mitochondrion,...
Delphinus bairdii voucher SBMNH2007-17 isolate SWFSC_MMASTR_76423 mitochondrion, complete genome
gi|2727568630|gb|PP761288.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000586283	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Uncertain significance (Sep 1, 2015)	maternal	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

SCV000586283

ISCA site 1

See additional submitters

no assertion criteria provided

Uncertain significance
(Sep 1, 2015)

maternal

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
human	maternal	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, SCV000586283.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	human	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	maternal	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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