U.S. flag

An official website of the United States government

GRCh38/hg38 2q31.1(chr2:173699279-175586070)x1 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:
RCV000052556.7

Allele description [Variation Report for GRCh38/hg38 2q31.1(chr2:173699279-175586070)x1]

GRCh38/hg38 2q31.1(chr2:173699279-175586070)x1

Genes:
  • LOC129935124:ATAC-STARR-seq lymphoblastoid active region 16769 [Gene]
  • LOC129935128:ATAC-STARR-seq lymphoblastoid active region 16770 [Gene]
  • LOC129935132:ATAC-STARR-seq lymphoblastoid active region 16772 [Gene]
  • LOC129935134:ATAC-STARR-seq lymphoblastoid active region 16774 [Gene]
  • LOC129935135:ATAC-STARR-seq lymphoblastoid active region 16775 [Gene]
  • LOC129935137:ATAC-STARR-seq lymphoblastoid active region 16776 [Gene]
  • LOC129935138:ATAC-STARR-seq lymphoblastoid active region 16777 [Gene]
  • LOC129935139:ATAC-STARR-seq lymphoblastoid active region 16778 [Gene]
  • LOC129935140:ATAC-STARR-seq lymphoblastoid active region 16779 [Gene]
  • LOC129935141:ATAC-STARR-seq lymphoblastoid active region 16780 [Gene]
  • LOC129935142:ATAC-STARR-seq lymphoblastoid active region 16781 [Gene]
  • LOC129935143:ATAC-STARR-seq lymphoblastoid active region 16782 [Gene]
  • LOC129935144:ATAC-STARR-seq lymphoblastoid active region 16783 [Gene]
  • LOC129935145:ATAC-STARR-seq lymphoblastoid active region 16784 [Gene]
  • LOC129935146:ATAC-STARR-seq lymphoblastoid active region 16785 [Gene]
  • LOC129935149:ATAC-STARR-seq lymphoblastoid active region 16786 [Gene]
  • LOC129935154:ATAC-STARR-seq lymphoblastoid active region 16787 [Gene]
  • LOC129935123:ATAC-STARR-seq lymphoblastoid silent region 12117 [Gene]
  • LOC129935125:ATAC-STARR-seq lymphoblastoid silent region 12120 [Gene]
  • LOC129935126:ATAC-STARR-seq lymphoblastoid silent region 12121 [Gene]
  • LOC129935127:ATAC-STARR-seq lymphoblastoid silent region 12122 [Gene]
  • LOC129935129:ATAC-STARR-seq lymphoblastoid silent region 12123 [Gene]
  • LOC129935130:ATAC-STARR-seq lymphoblastoid silent region 12124 [Gene]
  • LOC129935131:ATAC-STARR-seq lymphoblastoid silent region 12125 [Gene]
  • LOC129935133:ATAC-STARR-seq lymphoblastoid silent region 12126 [Gene]
  • LOC129935136:ATAC-STARR-seq lymphoblastoid silent region 12127 [Gene]
  • LOC129935147:ATAC-STARR-seq lymphoblastoid silent region 12128 [Gene]
  • LOC129935148:ATAC-STARR-seq lymphoblastoid silent region 12129 [Gene]
  • LOC129935150:ATAC-STARR-seq lymphoblastoid silent region 12130 [Gene]
  • LOC129935151:ATAC-STARR-seq lymphoblastoid silent region 12131 [Gene]
  • LOC129935152:ATAC-STARR-seq lymphoblastoid silent region 12132 [Gene]
  • LOC129935153:ATAC-STARR-seq lymphoblastoid silent region 12133 [Gene]
  • LOC129935155:ATAC-STARR-seq lymphoblastoid silent region 12134 [Gene]
  • ATP5MC3:ATP synthase membrane subunit c locus 3 [Gene - OMIM - HGNC]
  • LOC126806411:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:176342216-176343415 [Gene]
  • GPR155:G protein-coupled receptor 155 [Gene - HGNC]
  • GPR155-DT:GPR155 divergent transcript [Gene - HGNC]
  • LOC126806409:MED14-independent group 3 enhancer GRCh37_chr2:174916218-174917417 [Gene]
  • LOC126806410:MED14-independent group 3 enhancer GRCh37_chr2:175778728-175779927 [Gene]
  • LOC129388946:MPRA-validated peak3933 silencer [Gene]
  • LOC129388947:MPRA-validated peak3936 silencer [Gene]
  • LOC129388948:MPRA-validated peak3937 silencer [Gene]
  • LOC129388949:MPRA-validated peak3938 silencer [Gene]
  • LOC129388950:MPRA-validated peak3940 silencer [Gene]
  • LOC129388951:MPRA-validated peak3942 silencer [Gene]
  • OLA1:Obg like ATPase 1 [Gene - OMIM - HGNC]
  • LOC126806408:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:174888471-174889670 [Gene]
  • LOC122861240:Sharpr-MPRA regulatory region 126 [Gene]
  • LOC122861244:Sharpr-MPRA regulatory region 13906 [Gene]
  • LOC122861242:Sharpr-MPRA regulatory region 13988 [Gene]
  • LOC122861243:Sharpr-MPRA regulatory region 14969 [Gene]
  • LOC120977015:Sharpr-MPRA regulatory region 431 [Gene]
  • LOC122861241:Sharpr-MPRA regulatory region 8106 [Gene]
  • LOC112806060:Sharpr-MPRA regulatory region 8299 [Gene]
  • LOC122861245:Sharpr-MPRA regulatory region 9658 [Gene]
  • SP3:Sp3 transcription factor [Gene - OMIM - HGNC]
  • SP9:Sp9 transcription factor [Gene - HGNC]
  • LOC110120625:VISTA enhancer hs243 [Gene]
  • LOC110120626:VISTA enhancer hs244 [Gene]
  • LOC110120790:VISTA enhancer hs860 [Gene]
  • LOC110120809:VISTA enhancer hs953 [Gene]
  • WIPF1:WAS/WASL interacting protein family member 1 [Gene - OMIM - HGNC]
  • ATF2:activating transcription factor 2 [Gene - OMIM - HGNC]
  • CHN1:chimerin 1 [Gene - OMIM - HGNC]
  • CHRNA1:cholinergic receptor nicotinic alpha 1 subunit [Gene - OMIM - HGNC]
  • CIR1:corepressor interacting with RBPJ, CIR1 [Gene - OMIM - HGNC]
  • LINC01305:long intergenic non-protein coding RNA 1305 [Gene - HGNC]
  • LINC01960:long intergenic non-protein coding RNA 1960 [Gene - HGNC]
  • MIR933:microRNA 933 [Gene - HGNC]
  • SCRN3:secernin 3 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
2q31.1
Genomic location:
Preferred name:
GRCh38/hg38 2q31.1(chr2:173699279-175586070)x1
HGVS:
  • NC_000002.12:g.(?_173699279)_(175586070_?)del
  • NC_000002.10:g.(?_174272253)_(176159044_?)del
  • NC_000002.11:g.(?_174564007)_(176450798_?)del
Links:
dbVar: nssv577739; dbVar: nsv531269
Observations:
1

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

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000079910ISCA Site 6

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical 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 ISCA Site 6, SCV000079910.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024