GRCh37/hg19 18p11.32-11.31(chr18:2666704-5267842)x1 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 23, 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:: RCV000512590.3

Allele description [Variation Report for GRCh37/hg19 18p11.32-11.31(chr18:2666704-5267842)x1]

GRCh37/hg19 18p11.32-11.31(chr18:2666704-5267842)x1

Genes:

AKAIN1:A-kinase anchor inhibitor 1 [Gene - OMIM - HGNC]
DLGAP1:DLG associated protein 1 [Gene - OMIM - HGNC]
DLGAP1-AS2:DLGAP1 antisense RNA 2 [Gene - HGNC]
TGIF1:TGFB induced factor homeobox 1 [Gene - OMIM - HGNC]
EMILIN2:elastin microfibril interfacer 2 [Gene - OMIM - HGNC]
LPIN2:lipin 2 [Gene - OMIM - HGNC]
MYOM1:myomesin 1 [Gene - OMIM - HGNC]
MYL12A:myosin light chain 12A [Gene - HGNC]
MYL12B:myosin light chain 12B [Gene - OMIM - HGNC]
SMCHD1:structural maintenance of chromosomes flexible hinge domain containing 1 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

18p11.32-11.31

Genomic location:

Chr18: 2666704 - 5267842 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 18p11.32-11.31(chr18:2666704-5267842)x1

HGVS:

NC_000018.9:g.(?_2666704)_(5267842_?)del

Links:

dbVar: nssv13655956; dbVar: nsv2772780

Observations:

Condition(s)

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

Recent activity

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MULTISPECIES: putative leader peptide [Streptomyces]
MULTISPECIES: putative leader peptide [Streptomyces]
gi|2576191751|ref|WP_309474684.1|

Protein
MULTISPECIES: hypothetical protein [Streptomyces]
MULTISPECIES: hypothetical protein [Streptomyces]
gi|2572742755|ref|WP_308061322.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000585039	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Pathogenic (Jun 23, 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

SCV000585039

ISCA site 1

See additional submitters

no assertion criteria provided

Pathogenic
(Jun 23, 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, SCV000585039.1

#	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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