GRCh38/hg38 6q27(chr6:170210927-170714507)x1 AND See cases

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 5, 2011
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:: RCV000137398.5

Allele description [Variation Report for GRCh38/hg38 6q27(chr6:170210927-170714507)x1]

GRCh38/hg38 6q27(chr6:170210927-170714507)x1

Genes:

LOC129997715:ATAC-STARR-seq lymphoblastoid active region 25467 [Gene]
LOC129997716:ATAC-STARR-seq lymphoblastoid active region 25468 [Gene]
LOC129997717:ATAC-STARR-seq lymphoblastoid silent region 17802 [Gene]
LOC126859914:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:170695897-170697096 [Gene]
LOC126859915:MED14-independent group 3 enhancer GRCh37_chr6:170816979-170818178 [Gene]
LOC132089379:Neanderthal introgressed variant-containing enhancer experimental_91390 [Gene]
LOC126859913:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:170591232-170592431 [Gene]
LOC123881371:Sharpr-MPRA regulatory region 11687 [Gene]
LOC108663996:TATA-box binding protein repeat instability region [Gene]
TBP:TATA-box binding protein [Gene - OMIM - HGNC]
LOC110121051:VISTA enhancer hs1310 [Gene]
DLL1:delta like canonical Notch ligand 1 [Gene - OMIM - HGNC]
FAM120B:family with sequence similarity 120 member B [Gene - OMIM - HGNC]
LINC01624:long intergenic non-protein coding RNA 1624 [Gene - HGNC]
MIR4644:microRNA 4644 [Gene - HGNC]
PDCD2:programmed cell death 2 [Gene - OMIM - HGNC]
PSMB1:proteasome 20S subunit beta 1 [Gene - OMIM - HGNC]
LOC101929692:uncharacterized LOC101929692 [Gene]
LOC154449:uncharacterized LOC154449 [Gene]
LOC285804:uncharacterized LOC285804 [Gene]

Variant type:

copy number loss

Cytogenetic location:

6q27

Genomic location:

Preferred name:

GRCh38/hg38 6q27(chr6:170210927-170714507)x1

HGVS:

NC_000006.12:g.(?_170210927)_(170714507_?)del
NC_000006.10:g.(?_170368086)_(170865520_?)del
NC_000006.11:g.(?_170526161)_(171023595_?)del

Links:

dbVar: nssv1415225; dbVar: nsv817323

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000177618	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Likely pathogenic (Jul 5, 2011)	de novo	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

SCV000177618

ISCA site 1

See additional submitters

no assertion criteria provided

Likely pathogenic
(Jul 5, 2011)

de novo

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	de novo	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, SCV000177618.4

#	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	de novo	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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