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GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)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:
RCV000052531.4

Allele description [Variation Report for GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1]

GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1

Genes:
  • LOC130004072:ATAC-STARR-seq lymphoblastoid active region 3553 [Gene]
  • LOC130004073:ATAC-STARR-seq lymphoblastoid active region 3554 [Gene]
  • LOC130004074:ATAC-STARR-seq lymphoblastoid active region 3555 [Gene]
  • LOC130004075:ATAC-STARR-seq lymphoblastoid active region 3561 [Gene]
  • LOC130004076:ATAC-STARR-seq lymphoblastoid active region 3562 [Gene]
  • LOC130004078:ATAC-STARR-seq lymphoblastoid active region 3563 [Gene]
  • LOC130004080:ATAC-STARR-seq lymphoblastoid active region 3564 [Gene]
  • LOC130004082:ATAC-STARR-seq lymphoblastoid active region 3565 [Gene]
  • LOC130004083:ATAC-STARR-seq lymphoblastoid active region 3566 [Gene]
  • LOC130004084:ATAC-STARR-seq lymphoblastoid active region 3567 [Gene]
  • LOC130004085:ATAC-STARR-seq lymphoblastoid active region 3568 [Gene]
  • LOC130004086:ATAC-STARR-seq lymphoblastoid active region 3570 [Gene]
  • LOC130004087:ATAC-STARR-seq lymphoblastoid active region 3571 [Gene]
  • LOC130004089:ATAC-STARR-seq lymphoblastoid active region 3572 [Gene]
  • LOC130004090:ATAC-STARR-seq lymphoblastoid active region 3574 [Gene]
  • LOC130004091:ATAC-STARR-seq lymphoblastoid active region 3575 [Gene]
  • LOC130004092:ATAC-STARR-seq lymphoblastoid active region 3576 [Gene]
  • LOC130004096:ATAC-STARR-seq lymphoblastoid active region 3577 [Gene]
  • LOC130004101:ATAC-STARR-seq lymphoblastoid active region 3578 [Gene]
  • LOC130004102:ATAC-STARR-seq lymphoblastoid active region 3579 [Gene]
  • LOC130004103:ATAC-STARR-seq lymphoblastoid active region 3580 [Gene]
  • LOC130004105:ATAC-STARR-seq lymphoblastoid active region 3584 [Gene]
  • LOC130004106:ATAC-STARR-seq lymphoblastoid active region 3585 [Gene]
  • LOC130004107:ATAC-STARR-seq lymphoblastoid active region 3586 [Gene]
  • LOC130004109:ATAC-STARR-seq lymphoblastoid active region 3587 [Gene]
  • LOC130004110:ATAC-STARR-seq lymphoblastoid active region 3588 [Gene]
  • LOC130004111:ATAC-STARR-seq lymphoblastoid active region 3589 [Gene]
  • LOC130004112:ATAC-STARR-seq lymphoblastoid active region 3590 [Gene]
  • LOC130004113:ATAC-STARR-seq lymphoblastoid active region 3591 [Gene]
  • LOC130004114:ATAC-STARR-seq lymphoblastoid active region 3593 [Gene]
  • LOC130004115:ATAC-STARR-seq lymphoblastoid active region 3594 [Gene]
  • LOC130004116:ATAC-STARR-seq lymphoblastoid active region 3595 [Gene]
  • LOC130004117:ATAC-STARR-seq lymphoblastoid active region 3596 [Gene]
  • LOC130004118:ATAC-STARR-seq lymphoblastoid active region 3597 [Gene]
  • LOC130004119:ATAC-STARR-seq lymphoblastoid active region 3598 [Gene]
  • LOC130004122:ATAC-STARR-seq lymphoblastoid active region 3600 [Gene]
  • LOC130004123:ATAC-STARR-seq lymphoblastoid active region 3601 [Gene]
  • LOC130004124:ATAC-STARR-seq lymphoblastoid active region 3602 [Gene]
  • LOC130004126:ATAC-STARR-seq lymphoblastoid active region 3603 [Gene]
  • LOC130004127:ATAC-STARR-seq lymphoblastoid active region 3604 [Gene]
  • LOC130004128:ATAC-STARR-seq lymphoblastoid active region 3605 [Gene]
  • LOC130004129:ATAC-STARR-seq lymphoblastoid active region 3606 [Gene]
  • LOC130004131:ATAC-STARR-seq lymphoblastoid active region 3608 [Gene]
  • LOC130004077:ATAC-STARR-seq lymphoblastoid silent region 2483 [Gene]
  • LOC130004079:ATAC-STARR-seq lymphoblastoid silent region 2484 [Gene]
  • LOC130004081:ATAC-STARR-seq lymphoblastoid silent region 2486 [Gene]
  • LOC130004088:ATAC-STARR-seq lymphoblastoid silent region 2487 [Gene]
  • LOC130004093:ATAC-STARR-seq lymphoblastoid silent region 2488 [Gene]
  • LOC130004094:ATAC-STARR-seq lymphoblastoid silent region 2489 [Gene]
  • LOC130004095:ATAC-STARR-seq lymphoblastoid silent region 2490 [Gene]
  • LOC130004097:ATAC-STARR-seq lymphoblastoid silent region 2491 [Gene]
  • LOC130004098:ATAC-STARR-seq lymphoblastoid silent region 2492 [Gene]
  • LOC130004099:ATAC-STARR-seq lymphoblastoid silent region 2493 [Gene]
  • LOC130004100:ATAC-STARR-seq lymphoblastoid silent region 2494 [Gene]
  • LOC130004104:ATAC-STARR-seq lymphoblastoid silent region 2495 [Gene]
  • LOC130004108:ATAC-STARR-seq lymphoblastoid silent region 2498 [Gene]
  • LOC130004120:ATAC-STARR-seq lymphoblastoid silent region 2500 [Gene]
  • LOC130004121:ATAC-STARR-seq lymphoblastoid silent region 2504 [Gene]
  • LOC130004125:ATAC-STARR-seq lymphoblastoid silent region 2505 [Gene]
  • LOC130004130:ATAC-STARR-seq lymphoblastoid silent region 2508 [Gene]
  • LOC130004132:ATAC-STARR-seq lymphoblastoid silent region 2509 [Gene]
  • LOC130004133:ATAC-STARR-seq lymphoblastoid silent region 2510 [Gene]
  • LOC130004134:ATAC-STARR-seq lymphoblastoid silent region 2511 [Gene]
  • LOC130004135:ATAC-STARR-seq lymphoblastoid silent region 2512 [Gene]
  • LOC130004136:ATAC-STARR-seq lymphoblastoid silent region 2513 [Gene]
  • LOC130004137:ATAC-STARR-seq lymphoblastoid silent region 2514 [Gene]
  • LOC130004138:ATAC-STARR-seq lymphoblastoid silent region 2515 [Gene]
  • AGAP5:ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 [Gene - HGNC]
  • LOC126860960:BRD4-independent group 4 enhancer GRCh37_chr10:75672789-75673988 [Gene]
  • LOC126860962:BRD4-independent group 4 enhancer GRCh37_chr10:77142242-77143441 [Gene]
  • LOC126860955:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:75006455-75007654 [Gene]
  • LOC126860957:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:75548316-75549515 [Gene]
  • LOC126860958:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:75646944-75648143 [Gene]
  • LOC126860959:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:75668366-75669565 [Gene]
  • LOC116216115:CRISPRi-validated cis-regulatory element chr10.2661 [Gene]
  • LOC116216116:CRISPRi-validated cis-regulatory element chr10.2662 [Gene]
  • DNAJC9-AS1:DNAJC9 and MRPS16 antisense RNA 1 [Gene - HGNC]
  • DNAJC9:DnaJ heat shock protein family (Hsp40) member C9 [Gene - OMIM - HGNC]
  • LOC126860956:MED14-independent group 3 enhancer GRCh37_chr10:75503472-75504671 [Gene]
  • LOC129390199:MPRA-validated peak1010 silencer [Gene]
  • LOC129390200:MPRA-validated peak1011 silencer [Gene]
  • LOC129390201:MPRA-validated peak1012 silencer [Gene]
  • LOC129390202:MPRA-validated peak1013 silencer [Gene]
  • LOC129390203:MPRA-validated peak1017 silencer [Gene]
  • LOC129390204:MPRA-validated peak1019 silencer [Gene]
  • LOC129390205:MPRA-validated peak1024 silencer [Gene]
  • MSS51:MSS51 mitochondrial translational activator [Gene - OMIM - HGNC]
  • NDST2:N-deacetylase and N-sulfotransferase 2 [Gene - OMIM - HGNC]
  • NDST2-ZSWIM8-AS1:NDST2-ZSWIM8-AS1 readthrough [Gene]
  • LOC126860961:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:75691709-75692908 [Gene]
  • PPP3CB-AS1:PPP3CB antisense RNA 1 (head to head) [Gene - HGNC]
  • SEC24C:SEC24 homolog C, COPII coat complex component [Gene - OMIM - HGNC]
  • SYNPO2L-AS1:SYNPO2L antisense RNA 1 [Gene - HGNC]
  • LOC124416843:Sharpr-MPRA regulatory region 10124 [Gene]
  • LOC124416837:Sharpr-MPRA regulatory region 12879 [Gene]
  • LOC121815949:Sharpr-MPRA regulatory region 13746 [Gene]
  • LOC124416844:Sharpr-MPRA regulatory region 13796 [Gene]
  • LOC124416841:Sharpr-MPRA regulatory region 295 [Gene]
  • LOC124416840:Sharpr-MPRA regulatory region 4338 [Gene]
  • LOC124416842:Sharpr-MPRA regulatory region 4496 [Gene]
  • LOC124416839:Sharpr-MPRA regulatory region 4994 [Gene]
  • LOC121366062:Sharpr-MPRA regulatory region 6662 [Gene]
  • LOC124416836:Sharpr-MPRA regulatory region 7737 [Gene]
  • LOC111982871:Sharpr-MPRA regulatory region 7934 [Gene]
  • LOC124416838:Sharpr-MPRA regulatory region 9775 [Gene]
  • LOC110121366:VISTA enhancer hs1437 [Gene]
  • LOC110121382:VISTA enhancer hs1500 [Gene]
  • LOC110121485:VISTA enhancer hs2142 [Gene]
  • LOC110120879:VISTA enhancer hs484 [Gene]
  • LOC110120903:VISTA enhancer hs595 [Gene]
  • ZNF503-AS1:ZNF503 antisense RNA 1 [Gene - HGNC]
  • ZNF503-AS2:ZNF503 antisense RNA 2 [Gene - HGNC]
  • ZSWIM8-AS1:ZSWIM8 antisense RNA 1 [Gene - HGNC]
  • AP3M1:adaptor related protein complex 3 subunit mu 1 [Gene - OMIM - HGNC]
  • ADK:adenosine kinase [Gene - OMIM - HGNC]
  • ANXA7:annexin A7 [Gene - OMIM - HGNC]
  • CAMK2G:calcium/calmodulin dependent protein kinase II gamma [Gene - OMIM - HGNC]
  • COMTD1:catechol-O-methyltransferase domain containing 1 [Gene - HGNC]
  • C10orf55:chromosome 10 putative open reading frame 55 [Gene - HGNC]
  • CFAP70:cilia and flagella associated protein 70 [Gene - OMIM - HGNC]
  • CHCHD1:coiled-coil-helix-coiled-coil-helix domain containing 1 [Gene - OMIM - HGNC]
  • DUSP13A:dual specificity phosphatase 13A [Gene - HGNC]
  • DUSP13B:dual specificity phosphatase 13B [Gene - OMIM - HGNC]
  • DUSP29:dual specificity phosphatase 29 [Gene - OMIM - HGNC]
  • ECD:ecdysoneless cell cycle regulator [Gene - OMIM - HGNC]
  • FAM149B1:family with sequence similarity 149 member B1 [Gene - OMIM - HGNC]
  • FUT11:fucosyltransferase 11 [Gene - OMIM - HGNC]
  • LRMDA:leucine rich melanocyte differentiation associated [Gene - OMIM - HGNC]
  • KAT6B:lysine acetyltransferase 6B [Gene - OMIM - HGNC]
  • MIR4676:microRNA 4676 [Gene - HGNC]
  • MIR606:microRNA 606 [Gene - HGNC]
  • MCU:mitochondrial calcium uniporter [Gene - OMIM - HGNC]
  • MRPS16:mitochondrial ribosomal protein S16 [Gene - OMIM - HGNC]
  • MYOZ1:myozenin 1 [Gene - OMIM - HGNC]
  • NUDT13:nudix hydrolase 13 [Gene - OMIM - HGNC]
  • OIT3:oncoprotein induced transcript 3 [Gene - OMIM - HGNC]
  • PLA2G12B:phospholipase A2 group XIIB [Gene - OMIM - HGNC]
  • PLAU:plasminogen activator, urokinase [Gene - OMIM - HGNC]
  • P4HA1:prolyl 4-hydroxylase subunit alpha 1 [Gene - OMIM - HGNC]
  • PPP3CB:protein phosphatase 3 catalytic subunit beta [Gene - OMIM - HGNC]
  • SNORD172:small nucleolar RNA, C/D box 172 [Gene - HGNC]
  • SNORA11F:small nucleolar RNA, H/ACA box 11F [Gene - HGNC]
  • SAMD8:sterile alpha motif domain containing 8 [Gene - OMIM - HGNC]
  • SYNPO2L:synaptopodin 2 like [Gene - HGNC]
  • USP54:ubiquitin specific peptidase 54 [Gene - HGNC]
  • LOC101929165:uncharacterized LOC101929165 [Gene]
  • LOC101929234:uncharacterized LOC101929234 [Gene]
  • LOC102723439:uncharacterized LOC102723439 [Gene]
  • VCL:vinculin [Gene - OMIM - HGNC]
  • VDAC2:voltage dependent anion channel 2 [Gene - OMIM - HGNC]
  • ZSWIM8:zinc finger SWIM-type containing 8 [Gene - OMIM - HGNC]
  • ZNF503:zinc finger protein 503 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
10q22.1-22.2
Genomic location:
Preferred name:
GRCh38/hg38 10q22.1-22.2(chr10:72720628-75612374)x1
HGVS:
  • NC_000010.11:g.(?_72720628)_(75612374_?)del
  • NC_000010.10:g.(?_74480386)_(77372132_?)del
  • NC_000010.9:g.(?_74150392)_(77042138_?)del
Links:
dbVar: nssv577294; dbVar: nsv531237
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
SCV000079885GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		not providedclinical 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

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 GeneDx, SCV000079885.4

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

Last Updated: Oct 14, 2023