GRCh38/hg38 10p13(chr10:14844417-15150430)x3 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 12, 2011
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000053515.5

Allele description [Variation Report for GRCh38/hg38 10p13(chr10:14844417-15150430)x3]

GRCh38/hg38 10p13(chr10:14844417-15150430)x3

Genes:

ACBD7-DCLRE1CP1:ACBD7-DCLRE1CP1 readthrough [Gene]
LOC130003416:ATAC-STARR-seq lymphoblastoid active region 3086 [Gene]
LOC130003417:ATAC-STARR-seq lymphoblastoid active region 3087 [Gene]
LOC130003420:ATAC-STARR-seq lymphoblastoid active region 3088 [Gene]
LOC130003421:ATAC-STARR-seq lymphoblastoid active region 3089 [Gene]
LOC130003423:ATAC-STARR-seq lymphoblastoid active region 3090 [Gene]
LOC130003424:ATAC-STARR-seq lymphoblastoid active region 3091 [Gene]
LOC130003425:ATAC-STARR-seq lymphoblastoid active region 3092 [Gene]
LOC130003426:ATAC-STARR-seq lymphoblastoid active region 3093 [Gene]
LOC130003415:ATAC-STARR-seq lymphoblastoid silent region 2164 [Gene]
LOC130003418:ATAC-STARR-seq lymphoblastoid silent region 2165 [Gene]
LOC130003419:ATAC-STARR-seq lymphoblastoid silent region 2166 [Gene]
LOC130003422:ATAC-STARR-seq lymphoblastoid silent region 2167 [Gene]
DCLRE1C:DNA cross-link repair 1C [Gene - OMIM - HGNC]
LOC129390133:MPRA-validated peak869 silencer [Gene]
MSANTD7:Myb/SANT DNA binding domain containing 7 [Gene - HGNC]
NMT2:N-myristoyltransferase 2 [Gene - OMIM - HGNC]
RPP38-DT:RPP38 divergent transcript [Gene - HGNC]
SUV39H2-DT:SUV39H2 divergent transcript [Gene - HGNC]
SUV39H2:SUV39H2 histone lysine methyltransferase [Gene - OMIM - HGNC]
ACBD7:acyl-CoA binding domain containing 7 [Gene - HGNC]
HSPA14:heat shock protein family A (Hsp70) member 14 [Gene - OMIM - HGNC]
MEIG1:meiosis/spermiogenesis associated 1 [Gene - OMIM - HGNC]
OLAH:oleoyl-ACP hydrolase [Gene - HGNC]
RPP38:ribonuclease P/MRP subunit p38 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

10p13

Genomic location:

Preferred name:

GRCh38/hg38 10p13(chr10:14844417-15150430)x3

HGVS:

NC_000010.11:g.(?_14844417)_(15150430_?)dup
NC_000010.10:g.(?_14886416)_(15192429_?)dup
NC_000010.9:g.(?_14926422)_(15232435_?)dup

Links:

dbVar: nssv578565; dbVar: nsv532189

Observations:

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000080873	GeneDx	criteria provided, single submitter (Kaminsky et al. (Genet Med. 2011))	Pathogenic (Aug 12, 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

SCV000080873

GeneDx

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))

Pathogenic
(Aug 12, 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

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]

PMID:: 21844811
PMCID:: PMC3661946

Details of each submission

From GeneDx, SCV000080873.5

#	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: Oct 14, 2023

ClinVar

Relating variation to medicine