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GRCh38/hg38 2q13-14.1(chr2:110649261-112331529)x1 AND See cases

Germline classification:
conflicting data from submitters (1 submission)
Last evaluated:
Apr 4, 2013
Review status:
(0/4) 0 stars out of maximum of 4 stars
conflicting data from submitters (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:
RCV000137568.8

Allele description [Variation Report for GRCh38/hg38 2q13-14.1(chr2:110649261-112331529)x1]

GRCh38/hg38 2q13-14.1(chr2:110649261-112331529)x1

Genes:
  • ACOXL-AS1:ACOXL antisense RNA 1 [Gene - HGNC]
  • LOC129934557:ATAC-STARR-seq lymphoblastoid active region 16371 [Gene]
  • LOC129934558:ATAC-STARR-seq lymphoblastoid active region 16374 [Gene]
  • LOC129934559:ATAC-STARR-seq lymphoblastoid active region 16375 [Gene]
  • LOC129934560:ATAC-STARR-seq lymphoblastoid active region 16376 [Gene]
  • LOC129934561:ATAC-STARR-seq lymphoblastoid active region 16377 [Gene]
  • LOC129934562:ATAC-STARR-seq lymphoblastoid active region 16378 [Gene]
  • LOC129934563:ATAC-STARR-seq lymphoblastoid active region 16379 [Gene]
  • LOC129934564:ATAC-STARR-seq lymphoblastoid active region 16380 [Gene]
  • LOC129934565:ATAC-STARR-seq lymphoblastoid active region 16381 [Gene]
  • LOC129934568:ATAC-STARR-seq lymphoblastoid active region 16383 [Gene]
  • LOC129934569:ATAC-STARR-seq lymphoblastoid active region 16384 [Gene]
  • LOC129934571:ATAC-STARR-seq lymphoblastoid active region 16385 [Gene]
  • LOC129934572:ATAC-STARR-seq lymphoblastoid active region 16386 [Gene]
  • LOC129934573:ATAC-STARR-seq lymphoblastoid active region 16387 [Gene]
  • LOC129934576:ATAC-STARR-seq lymphoblastoid active region 16388 [Gene]
  • LOC129934577:ATAC-STARR-seq lymphoblastoid active region 16389 [Gene]
  • LOC129934578:ATAC-STARR-seq lymphoblastoid active region 16390 [Gene]
  • LOC129934566:ATAC-STARR-seq lymphoblastoid silent region 11865 [Gene]
  • LOC129934567:ATAC-STARR-seq lymphoblastoid silent region 11866 [Gene]
  • LOC129934570:ATAC-STARR-seq lymphoblastoid silent region 11867 [Gene]
  • LOC129934574:ATAC-STARR-seq lymphoblastoid silent region 11868 [Gene]
  • LOC129934575:ATAC-STARR-seq lymphoblastoid silent region 11869 [Gene]
  • LOC129934579:ATAC-STARR-seq lymphoblastoid silent region 11870 [Gene]
  • LOC129934580:ATAC-STARR-seq lymphoblastoid silent region 11871 [Gene]
  • BCL2L11:BCL2 like 11 [Gene - OMIM - HGNC]
  • BUB1:BUB1 mitotic checkpoint serine/threonine kinase [Gene - OMIM - HGNC]
  • LOC126806307:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:111556532-111557731 [Gene]
  • LOC115945185:CRISPRi-validated cis-regulatory element chr2.4107 [Gene]
  • MERTK:MER proto-oncogene, tyrosine kinase [Gene - OMIM - HGNC]
  • MIR4435-2HG:MIR4435-2 host gene [Gene - OMIM - HGNC]
  • LOC129388900:MPRA-validated peak3818 silencer [Gene]
  • LOC122817726:OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr2:112462827-112463612 and GRCh37_chr2:112463613-112464396 [Gene]
  • LOC126806308:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:111789964-111791163 [Gene]
  • LOC126806309:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:112252044-112253243 [Gene]
  • LOC122817727:Sharpr-MPRA regulatory region 10261 [Gene]
  • LOC122817723:Sharpr-MPRA regulatory region 12654 [Gene]
  • LOC112806037:Sharpr-MPRA regulatory region 3720 [Gene]
  • LOC122817725:Sharpr-MPRA regulatory region 6991 [Gene]
  • LOC120961779:Sharpr-MPRA regulatory region 7769 [Gene]
  • LOC122817724:Sharpr-MPRA regulatory region 8028 [Gene]
  • ACOXL:acyl-CoA oxidase like [Gene - HGNC]
  • ANAPC1:anaphase promoting complex subunit 1 [Gene - OMIM - HGNC]
  • FBLN7:fibulin 7 [Gene - OMIM - HGNC]
  • MIR4435-2:microRNA 4435-2 [Gene - HGNC]
  • MIR4771-2:microRNA 4771-2 [Gene - HGNC]
  • SOCAR:serous ovarian cancer associated RNA [Gene - HGNC]
  • SNORD132:small nucleolar RNA, C/D box 132 [Gene - HGNC]
  • TMEM87B:transmembrane protein 87B [Gene - OMIM - HGNC]
  • LOC105373559:uncharacterized LOC105373559 [Gene]
  • ZC3H6:zinc finger CCCH-type containing 6 [Gene - HGNC]
  • ZC3H8:zinc finger CCCH-type containing 8 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
2q13-14.1
Genomic location:
Preferred name:
GRCh38/hg38 2q13-14.1(chr2:110649261-112331529)x1
HGVS:
  • NC_000002.12:g.(?_110649261)_(112331529_?)del
  • NC_000002.10:g.(?_111123310)_(112805577_?)del
  • NC_000002.11:g.(?_111406838)_(113089106_?)del
Links:
dbVar: nssv1415465; dbVar: nssv1495184; dbVar: nssv1495213; dbVar: nssv1608125; dbVar: nssv1608893; dbVar: nssv1610120; dbVar: nssv1610402; dbVar: nsv817509
Observations:
7

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000177796ISCA site 1

See additional submitters

no assertion criteria provided
conflicting data from submitters
(Apr 4, 2013) 		maternal, paternal, unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot providedclinical testing
not providednot providedyes2not providednot providednot providednot providedclinical testing
not providedpaternalyes2not providednot providednot providednot providedclinical testing
humannot providedyes2not providednot providednot providednot providedclinical 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, SCV000177796.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)
3not provided1not providednot providedclinical testing PubMed (1)
4not provided1not providednot providedclinical testing PubMed (1)
5not provided1not providednot providedclinical testing PubMed (1)
6human1not providednot providedclinical testing PubMed (1)
7human1not providednot providedclinical testing PubMed (1)

Description

Uncertain significance(6), Likely benign (1)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providedDiscovery1not providednot providednot provided
2unknownyesnot providednot providedDiscovery1not providednot providednot provided
3maternalyesnot providednot providedDiscovery1not providednot providednot provided
4paternalyesnot providednot providedDiscovery1not providednot providednot provided
5unknownyesnot providednot providedDiscovery1not providednot providednot provided
6unknownyesnot providednot providedDiscovery1not providednot providednot provided
7unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024