GRCh37/hg19 7q11.23(chr7:72691242-74142190)x1 AND See cases

Germline classification:: Pathogenic (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:: RCV000510243.3

Allele description [Variation Report for GRCh37/hg19 7q11.23(chr7:72691242-74142190)x1]

GRCh37/hg19 7q11.23(chr7:72691242-74142190)x1

Genes:

ABHD11-AS1:ABHD11 antisense RNA 1 (tail to tail) [Gene - OMIM - HGNC]
BCL7B:BAF chromatin remodeling complex subunit BCL7B [Gene - OMIM - HGNC]
BUD23:BUD23 rRNA methyltransferase and ribosome maturation factor [Gene - OMIM - HGNC]
CLIP2:CAP-Gly domain containing linker protein 2 [Gene - OMIM - HGNC]
DNAJC30:DnaJ heat shock protein family (Hsp40) member C30 [Gene - OMIM - HGNC]
FKBP6:FKBP prolyl isomerase family member 6 (inactive) [Gene - OMIM - HGNC]
GTF2IRD1:GTF2I repeat domain containing 1 [Gene - OMIM - HGNC]
LIMK1:LIM domain kinase 1 [Gene - OMIM - HGNC]
MLXIPL:MLX interacting protein like [Gene - OMIM - HGNC]
NSUN5:NOP2/Sun RNA methyltransferase 5 [Gene - OMIM - HGNC]
VPS37D:VPS37D subunit of ESCRT-I [Gene - OMIM - HGNC]
ABHD11:abhydrolase domain containing 11 [Gene - HGNC]
BAZ1B:bromodomain adjacent to zinc finger domain 1B [Gene - OMIM - HGNC]
CLDN3:claudin 3 [Gene - OMIM - HGNC]
CLDN4:claudin 4 [Gene - OMIM - HGNC]
ELN:elastin [Gene - OMIM - HGNC]
EIF4H:eukaryotic translation initiation factor 4H [Gene - OMIM - HGNC]
FZD9:frizzled class receptor 9 [Gene - OMIM - HGNC]
GTF2I:general transcription factor IIi [Gene - OMIM - HGNC]
LAT2:linker for activation of T cells family member 2 [Gene - OMIM - HGNC]
METTL27:methyltransferase like 27 [Gene - OMIM - HGNC]
MIR590:microRNA 590 [Gene - OMIM - HGNC]
RFC2:replication factor C subunit 2 [Gene - OMIM - HGNC]
STX1A:syntaxin 1A [Gene - OMIM - HGNC]
TBL2:transducin beta like 2 [Gene - OMIM - HGNC]
TMEM270:transmembrane protein 270 [Gene - OMIM - HGNC]
TRIM50:tripartite motif containing 50 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

7q11.23

Genomic location:

Chr7: 72691242 - 74142190 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 7q11.23(chr7:72691242-74142190)x1

HGVS:

NC_000007.13:g.(?_72691242)_(74142190_?)del

Links:

dbVar: nssv13652746; dbVar: nsv2776270

Observations:

Condition(s)

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

Recent activity

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Lioparus chrysotis voucher IOZ 10174 inhibitor of apoptosis-like protein (LOC100...
Lioparus chrysotis voucher IOZ 10174 inhibitor of apoptosis-like protein (LOC100225317) gene, partial cds
gi|1341094289|gb|KY602519.1|

Nucleotide
Auricularia delicata strain LE-BIN 3038 small subunit ribosomal RNA gene, partia...
Auricularia delicata strain LE-BIN 3038 small subunit ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequence
gi|2398794003|gb|OP975776.1|

Nucleotide
Auricularia delicata voucher P 14 internal transcribed spacer 1, partial sequenc...
Auricularia delicata voucher P 14 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequence
gi|1560769954|gb|MH213364.1|

Nucleotide
RecName: Full=Bcl-2-binding component 3, isoforms 1/2; AltName: Full=JFY-1; AltN...
RecName: Full=Bcl-2-binding component 3, isoforms 1/2; AltName: Full=JFY-1; AltName: Full=p53 up-regulated modulator of apoptosis
gi|56748610|sp|Q9BXH1.1|BBC3_HUMAN

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000585646	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Pathogenic (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

SCV000585646

ISCA site 1

See additional submitters

no assertion criteria provided

Pathogenic
(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
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, SCV000585646.1

#	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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