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GRCh38/hg38 10q26.3(chr10:129549258-133620674)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 14, 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:
RCV000135547.7

Allele description [Variation Report for GRCh38/hg38 10q26.3(chr10:129549258-133620674)x1]

GRCh38/hg38 10q26.3(chr10:129549258-133620674)x1

Genes:
  • ADAM8:ADAM metallopeptidase domain 8 [Gene - OMIM - HGNC]
  • ADGRA1-AS1:ADGRA1 antisense RNA 1 [Gene - HGNC]
  • 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]
  • LOC130005006:ATAC-STARR-seq lymphoblastoid active region 4236 [Gene]
  • LOC130005007:ATAC-STARR-seq lymphoblastoid active region 4237 [Gene]
  • LOC130005009:ATAC-STARR-seq lymphoblastoid active region 4238 [Gene]
  • LOC130005010:ATAC-STARR-seq lymphoblastoid active region 4239 [Gene]
  • LOC130005012:ATAC-STARR-seq lymphoblastoid active region 4240 [Gene]
  • LOC130005013:ATAC-STARR-seq lymphoblastoid active region 4241 [Gene]
  • LOC130005014:ATAC-STARR-seq lymphoblastoid active region 4242 [Gene]
  • LOC130005015:ATAC-STARR-seq lymphoblastoid active region 4243 [Gene]
  • LOC130005016:ATAC-STARR-seq lymphoblastoid active region 4244 [Gene]
  • LOC130005017:ATAC-STARR-seq lymphoblastoid active region 4245 [Gene]
  • LOC130005019:ATAC-STARR-seq lymphoblastoid active region 4246 [Gene]
  • LOC130005020:ATAC-STARR-seq lymphoblastoid active region 4247 [Gene]
  • LOC130005024:ATAC-STARR-seq lymphoblastoid active region 4248 [Gene]
  • LOC130005030:ATAC-STARR-seq lymphoblastoid active region 4250 [Gene]
  • LOC130005031:ATAC-STARR-seq lymphoblastoid active region 4251 [Gene]
  • LOC130005032:ATAC-STARR-seq lymphoblastoid active region 4252 [Gene]
  • LOC130005033:ATAC-STARR-seq lymphoblastoid active region 4253 [Gene]
  • LOC130005034:ATAC-STARR-seq lymphoblastoid active region 4254 [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]
  • LOC130005008:ATAC-STARR-seq lymphoblastoid silent region 2970 [Gene]
  • LOC130005011:ATAC-STARR-seq lymphoblastoid silent region 2971 [Gene]
  • LOC130005018:ATAC-STARR-seq lymphoblastoid silent region 2974 [Gene]
  • LOC130005021:ATAC-STARR-seq lymphoblastoid silent region 2975 [Gene]
  • LOC130005022:ATAC-STARR-seq lymphoblastoid silent region 2976 [Gene]
  • LOC130005023:ATAC-STARR-seq lymphoblastoid silent region 2977 [Gene]
  • LOC130005025:ATAC-STARR-seq lymphoblastoid silent region 2978 [Gene]
  • LOC130005026:ATAC-STARR-seq lymphoblastoid silent region 2979 [Gene]
  • LOC130005027:ATAC-STARR-seq lymphoblastoid silent region 2980 [Gene]
  • LOC130005028:ATAC-STARR-seq lymphoblastoid silent region 2981 [Gene]
  • LOC130005029:ATAC-STARR-seq lymphoblastoid silent region 2982 [Gene]
  • LOC130005035:ATAC-STARR-seq lymphoblastoid silent region 2983 [Gene]
  • LOC130005036:ATAC-STARR-seq lymphoblastoid silent region 2984 [Gene]
  • BNIP3:BCL2 interacting protein 3 [Gene - OMIM - HGNC]
  • 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]
  • LOC126861107:BRD4-independent group 4 enhancer GRCh37_chr10:135344892-135346091 [Gene]
  • LOC126861095:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:132642120-132643319 [Gene]
  • LOC126861104:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:134826346-134827545 [Gene]
  • LOC110599579:CEB36 minisatellite repeat instability region [Gene]
  • LOC110599585:CYP2E1 5' regulatory region [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]
  • LOC126861099:MED14-independent group 3 enhancer GRCh37_chr10:133609642-133610841 [Gene]
  • LOC126861100:MED14-independent group 3 enhancer GRCh37_chr10:133747865-133749064 [Gene]
  • LOC126861103:MED14-independent group 3 enhancer GRCh37_chr10:134705471-134706670 [Gene]
  • LOC126861105:MED14-independent group 3 enhancer GRCh37_chr10:135057814-135059013 [Gene]
  • MIR202HG:MIR202 host gene [Gene - HGNC]
  • LOC129390240:MPRA-validated peak1130 silencer [Gene]
  • LOC129390241:MPRA-validated peak1134 silencer [Gene]
  • LOC129390242:MPRA-validated peak1138 silencer [Gene]
  • NKX6-2:NK6 homeobox 2 [Gene - OMIM - HGNC]
  • 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]
  • LOC126861106:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:135106330-135107529 [Gene]
  • PWWP2B:PWWP domain containing 2B [Gene - HGNC]
  • LOC124416936:Sharpr-MPRA regulatory region 11835 [Gene]
  • LOC111946221:Sharpr-MPRA regulatory region 2011 [Gene]
  • LOC124416935:Sharpr-MPRA regulatory region 4393 [Gene]
  • LOC111875835:Sharpr-MPRA regulatory region 5064 [Gene]
  • LOC124416934:Sharpr-MPRA regulatory region 8952 [Gene]
  • TCERG1L-AS1:TCERG1L antisense RNA 1 [Gene - HGNC]
  • VENTX:VENT homeobox [Gene - OMIM - HGNC]
  • LOC110121444:VISTA enhancer hs1763 [Gene]
  • LOC110120846:VISTA enhancer hs232 [Gene]
  • LOC110120916:VISTA enhancer hs656 [Gene]
  • ZNF511-PRAP1:ZNF511-PRAP1 readthrough [Gene - HGNC]
  • ADGRA1:adhesion G protein-coupled receptor A1 [Gene - OMIM - HGNC]
  • CALY:calcyon neuron specific vesicular protein [Gene - OMIM - HGNC]
  • C10orf143:chromosome 10 open reading frame 143 [Gene - HGNC]
  • CFAP46:cilia and flagella associated protein 46 [Gene - OMIM - HGNC]
  • CYP2E1:cytochrome P450 family 2 subfamily E member 1 [Gene - OMIM - HGNC]
  • DPYSL4:dihydropyrimidinase like 4 [Gene - OMIM - HGNC]
  • ECHS1:enoyl-CoA hydratase, short chain 1 [Gene - OMIM - HGNC]
  • FUOM:fucose mutarotase [Gene - OMIM - HGNC]
  • GLRX3:glutaredoxin 3 [Gene - OMIM - HGNC]
  • INPP5A:inositol polyphosphate-5-phosphatase A [Gene - OMIM - HGNC]
  • KNDC1:kinase non-catalytic C-lobe domain containing 1 [Gene - OMIM - HGNC]
  • LRRC27:leucine rich repeat containing 27 [Gene - HGNC]
  • LINC01164:long intergenic non-protein coding RNA 1164 [Gene - HGNC]
  • LINC01165:long intergenic non-protein coding RNA 1165 [Gene - HGNC]
  • LINC01166:long intergenic non-protein coding RNA 1166 [Gene - HGNC]
  • LINC01167:long intergenic non-protein coding RNA 1167 [Gene - HGNC]
  • LINC01168:long intergenic non-protein coding RNA 1168 [Gene - HGNC]
  • LINC02870:long intergenic non-protein coding RNA 2870 [Gene - HGNC]
  • LINC03068:long intergenic non-protein coding RNA 3068 [Gene - HGNC]
  • MIR202:microRNA 202 [Gene - HGNC]
  • MIR378C:microRNA 378c [Gene - HGNC]
  • MIR3944:microRNA 3944 [Gene - HGNC]
  • MIR4297:microRNA 4297 [Gene - HGNC]
  • MTG1:mitochondrial ribosome associated GTPase 1 [Gene - HGNC]
  • PAOX:polyamine oxidase [Gene - OMIM - HGNC]
  • PRAP1:proline rich acidic protein 1 [Gene - OMIM - HGNC]
  • PPP2R2D:protein phosphatase 2 regulatory subunit Bdelta [Gene - OMIM - HGNC]
  • SCART1:scavenger receptor family member expressed on T cells 1 [Gene - HGNC]
  • STK32C:serine/threonine kinase 32C [Gene - HGNC]
  • SPRN:shadow of prion protein [Gene - OMIM - HGNC]
  • SYCE1:synaptonemal complex central element protein 1 [Gene - OMIM - HGNC]
  • TCERG1L:transcription elongation regulator 1 like [Gene - OMIM - HGNC]
  • TUBGCP2:tubulin gamma complex component 2 [Gene - OMIM - HGNC]
  • LOC102724883:uncharacterized LOC102724883 [Gene]
  • LOC107984281:uncharacterized LOC107984281 [Gene]
  • LOC107984282:uncharacterized LOC107984282 [Gene]
  • UTF1:undifferentiated embryonic cell transcription factor 1 [Gene - OMIM - HGNC]
  • ZNF511:zinc finger protein 511 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
10q26.3
Genomic location:
Preferred name:
GRCh38/hg38 10q26.3(chr10:129549258-133620674)x1
HGVS:
  • NC_000010.11:g.(?_129549258)_(133620674_?)del
  • NC_000010.10:g.(?_131347522)_(135434178_?)del
  • NC_000010.9:g.(?_131237512)_(135284168_?)del
Links:
dbVar: nssv706224; dbVar: nsv530379
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
SCV000175421ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Jan 14, 2011) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not 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, SCV000175421.4

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

Last Updated: May 7, 2024