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GRCh38/hg38 10q26.2-26.3(chr10:127640489-132776585)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 6, 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:
RCV000135728.7

Allele description [Variation Report for GRCh38/hg38 10q26.2-26.3(chr10:127640489-132776585)x1]

GRCh38/hg38 10q26.2-26.3(chr10:127640489-132776585)x1

Genes:
  • LOC130004949:ATAC-STARR-seq lymphoblastoid active region 4197 [Gene]
  • LOC130004950:ATAC-STARR-seq lymphoblastoid active region 4198 [Gene]
  • LOC130004952:ATAC-STARR-seq lymphoblastoid active region 4201 [Gene]
  • LOC130004957:ATAC-STARR-seq lymphoblastoid active region 4203 [Gene]
  • LOC130004958:ATAC-STARR-seq lymphoblastoid active region 4204 [Gene]
  • LOC130004961:ATAC-STARR-seq lymphoblastoid active region 4205 [Gene]
  • LOC130004962:ATAC-STARR-seq lymphoblastoid active region 4206 [Gene]
  • LOC130004963:ATAC-STARR-seq lymphoblastoid active region 4207 [Gene]
  • LOC130004965:ATAC-STARR-seq lymphoblastoid active region 4208 [Gene]
  • LOC130004966:ATAC-STARR-seq lymphoblastoid active region 4209 [Gene]
  • LOC130004968:ATAC-STARR-seq lymphoblastoid active region 4210 [Gene]
  • LOC130004969:ATAC-STARR-seq lymphoblastoid active region 4211 [Gene]
  • LOC130004970:ATAC-STARR-seq lymphoblastoid active region 4212 [Gene]
  • LOC130004971:ATAC-STARR-seq lymphoblastoid active region 4213 [Gene]
  • LOC130004973:ATAC-STARR-seq lymphoblastoid active region 4217 [Gene]
  • LOC130004975:ATAC-STARR-seq lymphoblastoid active region 4218 [Gene]
  • LOC130004976:ATAC-STARR-seq lymphoblastoid active region 4219 [Gene]
  • LOC130004977:ATAC-STARR-seq lymphoblastoid active region 4220 [Gene]
  • LOC130004983:ATAC-STARR-seq lymphoblastoid active region 4222 [Gene]
  • LOC130004985:ATAC-STARR-seq lymphoblastoid active region 4223 [Gene]
  • LOC130004987:ATAC-STARR-seq lymphoblastoid active region 4224 [Gene]
  • LOC130004997:ATAC-STARR-seq lymphoblastoid active region 4225 [Gene]
  • LOC130005001:ATAC-STARR-seq lymphoblastoid active region 4226 [Gene]
  • LOC130005002:ATAC-STARR-seq lymphoblastoid active region 4229 [Gene]
  • LOC130005003:ATAC-STARR-seq lymphoblastoid active region 4230 [Gene]
  • LOC130005004:ATAC-STARR-seq lymphoblastoid active region 4234 [Gene]
  • LOC130005005:ATAC-STARR-seq lymphoblastoid active region 4235 [Gene]
  • LOC130004947:ATAC-STARR-seq lymphoblastoid silent region 2930 [Gene]
  • LOC130004948:ATAC-STARR-seq lymphoblastoid silent region 2931 [Gene]
  • LOC130004951:ATAC-STARR-seq lymphoblastoid silent region 2932 [Gene]
  • LOC130004953:ATAC-STARR-seq lymphoblastoid silent region 2933 [Gene]
  • LOC130004954:ATAC-STARR-seq lymphoblastoid silent region 2934 [Gene]
  • LOC130004955:ATAC-STARR-seq lymphoblastoid silent region 2935 [Gene]
  • LOC130004956:ATAC-STARR-seq lymphoblastoid silent region 2936 [Gene]
  • LOC130004959:ATAC-STARR-seq lymphoblastoid silent region 2939 [Gene]
  • LOC130004960:ATAC-STARR-seq lymphoblastoid silent region 2940 [Gene]
  • LOC130004964:ATAC-STARR-seq lymphoblastoid silent region 2941 [Gene]
  • LOC130004967:ATAC-STARR-seq lymphoblastoid silent region 2942 [Gene]
  • LOC130004972:ATAC-STARR-seq lymphoblastoid silent region 2944 [Gene]
  • LOC130004974:ATAC-STARR-seq lymphoblastoid silent region 2945 [Gene]
  • LOC130004978:ATAC-STARR-seq lymphoblastoid silent region 2946 [Gene]
  • LOC130004979:ATAC-STARR-seq lymphoblastoid silent region 2947 [Gene]
  • LOC130004980:ATAC-STARR-seq lymphoblastoid silent region 2948 [Gene]
  • LOC130004981:ATAC-STARR-seq lymphoblastoid silent region 2951 [Gene]
  • LOC130004982:ATAC-STARR-seq lymphoblastoid silent region 2952 [Gene]
  • LOC130004984:ATAC-STARR-seq lymphoblastoid silent region 2953 [Gene]
  • LOC130004986:ATAC-STARR-seq lymphoblastoid silent region 2955 [Gene]
  • LOC130004988:ATAC-STARR-seq lymphoblastoid silent region 2956 [Gene]
  • LOC130004989:ATAC-STARR-seq lymphoblastoid silent region 2958 [Gene]
  • LOC130004990:ATAC-STARR-seq lymphoblastoid silent region 2959 [Gene]
  • LOC130004991:ATAC-STARR-seq lymphoblastoid silent region 2960 [Gene]
  • LOC130004992:ATAC-STARR-seq lymphoblastoid silent region 2961 [Gene]
  • LOC130004993:ATAC-STARR-seq lymphoblastoid silent region 2962 [Gene]
  • LOC130004994:ATAC-STARR-seq lymphoblastoid silent region 2963 [Gene]
  • LOC130004995:ATAC-STARR-seq lymphoblastoid silent region 2964 [Gene]
  • LOC130004996:ATAC-STARR-seq lymphoblastoid silent region 2965 [Gene]
  • LOC130004998:ATAC-STARR-seq lymphoblastoid silent region 2966 [Gene]
  • LOC130004999:ATAC-STARR-seq lymphoblastoid silent region 2968 [Gene]
  • LOC130005000:ATAC-STARR-seq lymphoblastoid silent region 2969 [Gene]
  • BNIP3:BCL2 interacting protein 3 [Gene - OMIM - HGNC]
  • LOC126861091:BRD4-independent group 4 enhancer GRCh37_chr10:129970982-129972181 [Gene]
  • LOC126861096:BRD4-independent group 4 enhancer GRCh37_chr10:132848100-132849299 [Gene]
  • LOC126861098:BRD4-independent group 4 enhancer GRCh37_chr10:133584321-133585520 [Gene]
  • LOC126861101:BRD4-independent group 4 enhancer GRCh37_chr10:134435556-134436755 [Gene]
  • LOC126861102:BRD4-independent group 4 enhancer GRCh37_chr10:134479264-134480463 [Gene]
  • LOC126861090:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:129860232-129861431 [Gene]
  • LOC126861095:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:132642120-132643319 [Gene]
  • EBF3:EBF transcription factor 3 [Gene - OMIM - HGNC]
  • JAKMIP3-AS1:JAKMIP3 antisense RNA 1 [Gene - HGNC]
  • JAKMIP3:Janus kinase and microtubule interacting protein 3 [Gene - OMIM - HGNC]
  • LOC126861089:MED14-independent group 3 enhancer GRCh37_chr10:129660798-129661997 [Gene]
  • LOC126861092:MED14-independent group 3 enhancer GRCh37_chr10:130427109-130428308 [Gene]
  • LOC126861099:MED14-independent group 3 enhancer GRCh37_chr10:133609642-133610841 [Gene]
  • LOC126861100:MED14-independent group 3 enhancer GRCh37_chr10:133747865-133749064 [Gene]
  • LOC129390239:MPRA-validated peak1129 silencer [Gene]
  • LOC129390240:MPRA-validated peak1130 silencer [Gene]
  • LOC132089757:Neanderthal introgressed variant-containing enhancer experimental_11122 [Gene]
  • LOC132089758:Neanderthal introgressed variant-containing enhancer experimental_11124 [Gene]
  • LOC132089759:Neanderthal introgressed variant-containing enhancer experimental_11218 [Gene]
  • LOC132089760:Neanderthal introgressed variant-containing enhancer experimental_11222 [Gene]
  • LOC132090830:Neanderthal introgressed variant-containing enhancer experimental_11225 [Gene]
  • LOC132089761:Neanderthal introgressed variant-containing enhancer experimental_11227 [Gene]
  • MGMT:O-6-methylguanine-DNA methyltransferase [Gene - OMIM - HGNC]
  • LOC126861093:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:131516429-131517628 [Gene]
  • LOC126861094:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:132517184-132518383 [Gene]
  • LOC126861097:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:133467536-133468735 [Gene]
  • PWWP2B:PWWP domain containing 2B [Gene - HGNC]
  • LOC124416933:Sharpr-MPRA regulatory region 15565 [Gene]
  • LOC124416935:Sharpr-MPRA regulatory region 4393 [Gene]
  • LOC111875835:Sharpr-MPRA regulatory region 5064 [Gene]
  • LOC124416934:Sharpr-MPRA regulatory region 8952 [Gene]
  • LOC121366093:Sharpr-MPRA regulatory region 9394 [Gene]
  • TCERG1L-AS1:TCERG1L antisense RNA 1 [Gene - HGNC]
  • LOC110121444:VISTA enhancer hs1763 [Gene]
  • LOC110120846:VISTA enhancer hs232 [Gene]
  • LOC110120892:VISTA enhancer hs562 [Gene]
  • LOC110120916:VISTA enhancer hs656 [Gene]
  • LOC110120924:VISTA enhancer hs699 [Gene]
  • LOC110120928:VISTA enhancer hs737 [Gene]
  • C10orf143:chromosome 10 open reading frame 143 [Gene - HGNC]
  • CLRN3:clarin 3 [Gene - OMIM - HGNC]
  • DPYSL4:dihydropyrimidinase like 4 [Gene - OMIM - HGNC]
  • FOXI2:forkhead box I2 [Gene - OMIM - HGNC]
  • GLRX3:glutaredoxin 3 [Gene - OMIM - HGNC]
  • INPP5A:inositol polyphosphate-5-phosphatase A [Gene - OMIM - HGNC]
  • LRRC27:leucine rich repeat containing 27 [Gene - HGNC]
  • AS-PTPRE:lncRNA antisense to PTPRE protein-coding gene [Gene]
  • LINC01163:long intergenic non-protein coding RNA 1163 [Gene - HGNC]
  • LINC01164:long intergenic non-protein coding RNA 1164 [Gene - HGNC]
  • LINC01165:long intergenic non-protein coding RNA 1165 [Gene - HGNC]
  • LINC02667:long intergenic non-protein coding RNA 2667 [Gene - HGNC]
  • LINC02870:long intergenic non-protein coding RNA 2870 [Gene - HGNC]
  • LINC03068:long intergenic non-protein coding RNA 3068 [Gene - HGNC]
  • MKI67:marker of proliferation Ki-67 [Gene - OMIM - HGNC]
  • MIR378C:microRNA 378c [Gene - HGNC]
  • MIR4297:microRNA 4297 [Gene - HGNC]
  • PPP2R2D:protein phosphatase 2 regulatory subunit Bdelta [Gene - OMIM - HGNC]
  • PTPRE:protein tyrosine phosphatase receptor type E [Gene - OMIM - HGNC]
  • STK32C:serine/threonine kinase 32C [Gene - HGNC]
  • TCERG1L:transcription elongation regulator 1 like [Gene - OMIM - HGNC]
  • LOC102724883:uncharacterized LOC102724883 [Gene]
  • LOC107984281:uncharacterized LOC107984281 [Gene]
  • LOC107984282:uncharacterized LOC107984282 [Gene]
Variant type:
copy number loss
Cytogenetic location:
10q26.2-26.3
Genomic location:
Preferred name:
GRCh38/hg38 10q26.2-26.3(chr10:127640489-132776585)x1
HGVS:
  • NC_000010.11:g.(?_127640489)_(132776585_?)del
  • NC_000010.10:g.(?_129438753)_(134590089_?)del
  • NC_000010.9:g.(?_129328743)_(134440079_?)del
Links:
dbVar: nssv577321; dbVar: nsv531329
Observations:
1

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
SCV000175647ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(May 6, 2011) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humande 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 1, SCV000175647.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024