GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1 AND See cases

Germline classification:: Benign (2 submissions)
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:: RCV000050260.11

Allele description [Variation Report for GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1]

GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1

Genes:

ANTXRL:ANTXR like [Gene - HGNC]
LOC130003769:ATAC-STARR-seq lymphoblastoid active region 3325 [Gene]
LOC130003773:ATAC-STARR-seq lymphoblastoid active region 3327 [Gene]
LOC130003774:ATAC-STARR-seq lymphoblastoid active region 3328 [Gene]
LOC130003770:ATAC-STARR-seq lymphoblastoid silent region 2351 [Gene]
LOC130003771:ATAC-STARR-seq lymphoblastoid silent region 2352 [Gene]
LOC130003772:ATAC-STARR-seq lymphoblastoid silent region 2353 [Gene]
AGAP10:ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 [Gene]
AGAP9:ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 [Gene - HGNC]
LOC126860929:BRD4-independent group 4 enhancer GRCh37_chr10:48324479-48325678 [Gene]
LOC126860928:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:48473688-48474887 [Gene]
LOC126860927:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:48600992-48602191 [Gene]
GPRIN2:G protein regulated inducer of neurite outgrowth 2 [Gene - OMIM - HGNC]
SYT15-AS1:SYT15 antisense RNA 1 [Gene - HGNC]
LOC111818966:Sharpr-MPRA regulatory regions 2784 and 8617 duplicate 1 [Gene]
LOC111818967:Sharpr-MPRA regulatory regions 2784 and 8617 duplicate 2 [Gene]
ANXA8L1:annexin A8 like 1 [Gene - HGNC]
ANXA8:annexin A8 [Gene - OMIM - HGNC]
FAM245B:family with sequence similarity 245 member B [Gene - HGNC]
FAM25G:family with sequence similarity 25 member G [Gene - HGNC]
GDF10:growth differentiation factor 10 [Gene - OMIM - HGNC]
GDF2:growth differentiation factor 2 [Gene - OMIM - HGNC]
LINC02637:long intergenic non-protein coding RNA 2637 [Gene - HGNC]
LINC03029:long intergenic non-protein coding RNA 3029 [Gene - HGNC]
LINC00842:long intergenic non-protein coding RNA 842 [Gene - HGNC]
NPY4R2:neuropeptide Y receptor Y4-2 [Gene - HGNC]
NPY4R:neuropeptide Y receptor Y4 [Gene - OMIM - HGNC]
PTPN20:protein tyrosine phosphatase non-receptor type 20 [Gene - OMIM - HGNC]
RBP3:retinol binding protein 3 [Gene - OMIM - HGNC]
SYT15:synaptotagmin 15 [Gene - OMIM - HGNC]
SYT15B:synaptotagmin 15B [Gene - HGNC]
LOC102724593:uncharacterized LOC102724593 [Gene]
LOC105378289:uncharacterized LOC105378289 [Gene]
LOC105378577:uncharacterized LOC105378577 [Gene]
LOC107001062:uncharacterized LOC107001062 [Gene]
ZNF488:zinc finger protein 488 [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

10q11.22

Genomic location:

Preferred name:

GRCh38/hg38 10q11.22(chr10:46157935-47923579)x1

HGVS:

NC_000010.11:g.(?_46157935)_(47923579_?)del
NC_000010.10:g.(?_46984913)_(47655146_?)del
NC_000010.9:g.(?_46404919)_(47125152_?)del

Links:

dbVar: nssv3395919; dbVar: nssv3396028; dbVar: nssv3396201; dbVar: nssv3396361; dbVar: nssv575272; dbVar: nssv575638; dbVar: nssv575725; dbVar: nssv575930; dbVar: nssv576456; dbVar: nssv706577; dbVar: nsv1067575; dbVar: nsv491589

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
SCV000077566	ISCA site 4 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	criteria provided, single submitter (Kaminsky et al. (Genet Med. 2011))	Benign (Aug 12, 2011)	paternal, unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000172966	ISCA site 4 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Benign (Sep 18, 2013)	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

SCV000077566

ISCA site 4

See additional submitters

criteria provided, single submitter

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

Benign
(Aug 12, 2011)

paternal, unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000172966

ISCA site 4

See additional submitters

no assertion criteria provided

Benign
(Sep 18, 2013)

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	paternal	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	not provided	yes	14	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

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 4, SCV000077566.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)
2	not provided	1	not provided	not provided	clinical testing	PubMed (1)
3	not provided	1	not provided	not provided	clinical testing	PubMed (1)
4	not provided	1	not provided	not provided	clinical testing	PubMed (1)
5	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
2	paternal	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
3	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
4	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
5	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

From ISCA site 4, SCV000172966.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)
2	not provided	1	not provided	not provided	clinical testing	PubMed (1)
3	not provided	1	not provided	not provided	clinical testing	PubMed (1)
4	not provided	1	not provided	not provided	clinical testing	PubMed (1)
5	not provided	1	not provided	not provided	clinical testing	PubMed (1)
6	not provided	1	not provided	not provided	clinical testing	PubMed (1)
7	not provided	1	not provided	not provided	clinical testing	PubMed (1)
8	not provided	1	not provided	not provided	clinical testing	PubMed (1)
9	not provided	1	not provided	not provided	clinical testing	PubMed (1)
10	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
2	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
3	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
4	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
5	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
6	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
7	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
8	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
9	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
10	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: May 7, 2024

ClinVar

Relating variation to medicine