GRCh37/hg19 7q36.1(chr7:148189771-150867270)x4 AND See cases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 22, 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:: RCV000511618.3

Allele description [Variation Report for GRCh37/hg19 7q36.1(chr7:148189771-150867270)x4]

GRCh37/hg19 7q36.1(chr7:148189771-150867270)x4

Genes:

ABCB8:ATP binding cassette subfamily B member 8 [Gene - OMIM - HGNC]
ATP6V0E2:ATPase H+ transporting V0 subunit e2 [Gene - OMIM - HGNC]
AGAP3:ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 [Gene - OMIM - HGNC]
FASTK:Fas activated serine/threonine kinase [Gene - OMIM - HGNC]
GIMAP1:GTPase, IMAP family member 1 [Gene - OMIM - HGNC]
GIMAP2:GTPase, IMAP family member 2 [Gene - OMIM - HGNC]
GIMAP4:GTPase, IMAP family member 4 [Gene - OMIM - HGNC]
GIMAP5:GTPase, IMAP family member 5 [Gene - OMIM - HGNC]
GIMAP6:GTPase, IMAP family member 6 [Gene - OMIM - HGNC]
GIMAP7:GTPase, IMAP family member 7 [Gene - OMIM - HGNC]
GIMAP8:GTPase, IMAP family member 8 [Gene - OMIM - HGNC]
KRBA1:KRAB-A domain containing 1 [Gene - HGNC]
RNY1:RNA, Ro60-associated Y1 [Gene - OMIM - HGNC]
RNY3:RNA, Ro60-associated Y3 [Gene - OMIM - HGNC]
RNY4:RNA, Ro60-associated Y4 [Gene - OMIM - HGNC]
RNY5:RNA, Ro60-associated Y5 [Gene - OMIM - HGNC]
ZBED6CL:ZBED6 C-terminal like [Gene - OMIM - HGNC]
ASIC3:acid sensing ion channel subunit 3 [Gene - OMIM - HGNC]
ACTR3C:actin related protein 3C [Gene - HGNC]
AOC1:amine oxidase copper containing 1 [Gene - OMIM - HGNC]
ATG9B:autophagy related 9B [Gene - OMIM - HGNC]
C7orf33:chromosome 7 open reading frame 33 [Gene - HGNC]
CUL1:cullin 1 [Gene - OMIM - HGNC]
CDK5:cyclin dependent kinase 5 [Gene - OMIM - HGNC]
EZH2:enhancer of zeste 2 polycomb repressive complex 2 subunit [Gene - OMIM - HGNC]
GBX1:gastrulation brain homeobox 1 [Gene - OMIM - HGNC]
LRRC61:leucine rich repeat containing 61 [Gene - HGNC]
NOS3:nitric oxide synthase 3 [Gene - OMIM - HGNC]
KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]
PDIA4:protein disulfide isomerase family A member 4 [Gene - OMIM - HGNC]
REPIN1:replication initiator 1 [Gene - OMIM - HGNC]
RARRES2:retinoic acid receptor responder 2 [Gene - OMIM - HGNC]
SLC4A2:solute carrier family 4 member 2 [Gene - OMIM - HGNC]
TMUB1:transmembrane and ubiquitin like domain containing 1 [Gene - OMIM - HGNC]
TMEM176A:transmembrane protein 176A [Gene - OMIM - HGNC]
TMEM176B:transmembrane protein 176B [Gene - OMIM - HGNC]
LOC100134040:uncharacterized LOC100134040 [Gene - OMIM]
ZNF212:zinc finger protein 212 [Gene - OMIM - HGNC]
ZNF282:zinc finger protein 282 [Gene - OMIM - HGNC]
ZNF398:zinc finger protein 398 [Gene - OMIM - HGNC]
ZNF425:zinc finger protein 425 [Gene - OMIM - HGNC]
ZNF467:zinc finger protein 467 [Gene - OMIM - HGNC]
ZNF746:zinc finger protein 746 [Gene - OMIM - HGNC]
ZNF775:zinc finger protein 775 [Gene - HGNC]
ZNF777:zinc finger protein 777 [Gene - OMIM - HGNC]
ZNF783:zinc finger protein 783 [Gene - HGNC]
ZNF786:zinc finger protein 786 [Gene - HGNC]
ZNF862:zinc finger protein 862 [Gene - HGNC]

Variant type:

copy number gain

Cytogenetic location:

7q36.1

Genomic location:

Chr7: 148189771 - 150867270 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 7q36.1(chr7:148189771-150867270)x4

HGVS:

Links:

dbVar: nssv13652421; dbVar: nsv2772008

Observations:

Condition(s)

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

Recent activity

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SMC2 structural maintenance of chromosomes 2 [Homo sapiens]
SMC2 structural maintenance of chromosomes 2 [Homo sapiens]
Gene ID:10592

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000584912	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Uncertain significance (Apr 22, 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

SCV000584912

ISCA site 1

See additional submitters

no assertion criteria provided

Uncertain significance
(Apr 22, 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
human	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, SCV000584912.1

#	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	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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