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GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 30, 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:
RCV000141179.4

Allele description [Variation Report for GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3]

GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3

Genes:
  • ADO:2-aminoethanethiol dioxygenase [Gene - OMIM - HGNC]
  • ANK3-DT:ANK3 divergent transcript [Gene - HGNC]
  • ARID5B:AT-rich interaction domain 5B [Gene - OMIM - HGNC]
  • LOC130003840:ATAC-STARR-seq lymphoblastoid active region 3380 [Gene]
  • LOC130003843:ATAC-STARR-seq lymphoblastoid active region 3382 [Gene]
  • LOC130003846:ATAC-STARR-seq lymphoblastoid active region 3385 [Gene]
  • LOC130003849:ATAC-STARR-seq lymphoblastoid active region 3386 [Gene]
  • LOC130003850:ATAC-STARR-seq lymphoblastoid active region 3387 [Gene]
  • LOC130003854:ATAC-STARR-seq lymphoblastoid active region 3388 [Gene]
  • LOC130003855:ATAC-STARR-seq lymphoblastoid active region 3389 [Gene]
  • LOC130003856:ATAC-STARR-seq lymphoblastoid active region 3390 [Gene]
  • LOC130003858:ATAC-STARR-seq lymphoblastoid active region 3391 [Gene]
  • LOC130003861:ATAC-STARR-seq lymphoblastoid active region 3392 [Gene]
  • LOC130003862:ATAC-STARR-seq lymphoblastoid active region 3393 [Gene]
  • LOC130003863:ATAC-STARR-seq lymphoblastoid active region 3394 [Gene]
  • LOC130003868:ATAC-STARR-seq lymphoblastoid active region 3395 [Gene]
  • LOC130003869:ATAC-STARR-seq lymphoblastoid active region 3396 [Gene]
  • LOC130003870:ATAC-STARR-seq lymphoblastoid active region 3397 [Gene]
  • LOC130003871:ATAC-STARR-seq lymphoblastoid active region 3398 [Gene]
  • LOC130003874:ATAC-STARR-seq lymphoblastoid active region 3399 [Gene]
  • LOC130003875:ATAC-STARR-seq lymphoblastoid active region 3400 [Gene]
  • LOC130003876:ATAC-STARR-seq lymphoblastoid active region 3401 [Gene]
  • LOC130003877:ATAC-STARR-seq lymphoblastoid active region 3402 [Gene]
  • LOC130003878:ATAC-STARR-seq lymphoblastoid active region 3403 [Gene]
  • LOC130003879:ATAC-STARR-seq lymphoblastoid active region 3404 [Gene]
  • LOC130003880:ATAC-STARR-seq lymphoblastoid active region 3405 [Gene]
  • LOC130003881:ATAC-STARR-seq lymphoblastoid active region 3406 [Gene]
  • LOC130003882:ATAC-STARR-seq lymphoblastoid active region 3407 [Gene]
  • LOC130003883:ATAC-STARR-seq lymphoblastoid active region 3408 [Gene]
  • LOC130003884:ATAC-STARR-seq lymphoblastoid active region 3410 [Gene]
  • LOC130003885:ATAC-STARR-seq lymphoblastoid active region 3411 [Gene]
  • LOC130003886:ATAC-STARR-seq lymphoblastoid active region 3412 [Gene]
  • LOC130003888:ATAC-STARR-seq lymphoblastoid active region 3413 [Gene]
  • LOC130003889:ATAC-STARR-seq lymphoblastoid active region 3414 [Gene]
  • LOC130003891:ATAC-STARR-seq lymphoblastoid active region 3415 [Gene]
  • LOC130003893:ATAC-STARR-seq lymphoblastoid active region 3416 [Gene]
  • LOC130003894:ATAC-STARR-seq lymphoblastoid active region 3417 [Gene]
  • LOC130003895:ATAC-STARR-seq lymphoblastoid active region 3418 [Gene]
  • LOC130003896:ATAC-STARR-seq lymphoblastoid active region 3419 [Gene]
  • LOC130003897:ATAC-STARR-seq lymphoblastoid active region 3420 [Gene]
  • LOC130003898:ATAC-STARR-seq lymphoblastoid active region 3421 [Gene]
  • LOC130003899:ATAC-STARR-seq lymphoblastoid active region 3422 [Gene]
  • LOC130003900:ATAC-STARR-seq lymphoblastoid active region 3423 [Gene]
  • LOC130003902:ATAC-STARR-seq lymphoblastoid active region 3424 [Gene]
  • LOC130003903:ATAC-STARR-seq lymphoblastoid active region 3428 [Gene]
  • LOC130003904:ATAC-STARR-seq lymphoblastoid active region 3429 [Gene]
  • LOC130003906:ATAC-STARR-seq lymphoblastoid active region 3430 [Gene]
  • LOC130003911:ATAC-STARR-seq lymphoblastoid active region 3432 [Gene]
  • LOC130003912:ATAC-STARR-seq lymphoblastoid active region 3433 [Gene]
  • LOC130003915:ATAC-STARR-seq lymphoblastoid active region 3434 [Gene]
  • LOC130003916:ATAC-STARR-seq lymphoblastoid active region 3435 [Gene]
  • LOC130003917:ATAC-STARR-seq lymphoblastoid active region 3436 [Gene]
  • LOC130003918:ATAC-STARR-seq lymphoblastoid active region 3437 [Gene]
  • LOC130003919:ATAC-STARR-seq lymphoblastoid active region 3440 [Gene]
  • LOC130003920:ATAC-STARR-seq lymphoblastoid active region 3441 [Gene]
  • LOC130003922:ATAC-STARR-seq lymphoblastoid active region 3442 [Gene]
  • LOC130003923:ATAC-STARR-seq lymphoblastoid active region 3443 [Gene]
  • LOC130003924:ATAC-STARR-seq lymphoblastoid active region 3444 [Gene]
  • LOC130003928:ATAC-STARR-seq lymphoblastoid active region 3445 [Gene]
  • LOC130003929:ATAC-STARR-seq lymphoblastoid active region 3446 [Gene]
  • LOC130003930:ATAC-STARR-seq lymphoblastoid active region 3447 [Gene]
  • LOC130003931:ATAC-STARR-seq lymphoblastoid active region 3448 [Gene]
  • LOC130003841:ATAC-STARR-seq lymphoblastoid silent region 2372 [Gene]
  • LOC130003842:ATAC-STARR-seq lymphoblastoid silent region 2373 [Gene]
  • LOC130003844:ATAC-STARR-seq lymphoblastoid silent region 2375 [Gene]
  • LOC130003845:ATAC-STARR-seq lymphoblastoid silent region 2377 [Gene]
  • LOC130003847:ATAC-STARR-seq lymphoblastoid silent region 2380 [Gene]
  • LOC130003848:ATAC-STARR-seq lymphoblastoid silent region 2381 [Gene]
  • LOC130003851:ATAC-STARR-seq lymphoblastoid silent region 2382 [Gene]
  • LOC130003852:ATAC-STARR-seq lymphoblastoid silent region 2383 [Gene]
  • LOC130003853:ATAC-STARR-seq lymphoblastoid silent region 2384 [Gene]
  • LOC130003857:ATAC-STARR-seq lymphoblastoid silent region 2385 [Gene]
  • LOC130003859:ATAC-STARR-seq lymphoblastoid silent region 2386 [Gene]
  • LOC130003860:ATAC-STARR-seq lymphoblastoid silent region 2387 [Gene]
  • LOC130003864:ATAC-STARR-seq lymphoblastoid silent region 2388 [Gene]
  • LOC130003865:ATAC-STARR-seq lymphoblastoid silent region 2389 [Gene]
  • LOC130003866:ATAC-STARR-seq lymphoblastoid silent region 2390 [Gene]
  • LOC130003867:ATAC-STARR-seq lymphoblastoid silent region 2391 [Gene]
  • LOC130003872:ATAC-STARR-seq lymphoblastoid silent region 2393 [Gene]
  • LOC130003873:ATAC-STARR-seq lymphoblastoid silent region 2394 [Gene]
  • LOC130003887:ATAC-STARR-seq lymphoblastoid silent region 2395 [Gene]
  • LOC130003890:ATAC-STARR-seq lymphoblastoid silent region 2396 [Gene]
  • LOC130003892:ATAC-STARR-seq lymphoblastoid silent region 2397 [Gene]
  • LOC130003901:ATAC-STARR-seq lymphoblastoid silent region 2398 [Gene]
  • LOC130003905:ATAC-STARR-seq lymphoblastoid silent region 2399 [Gene]
  • LOC130003907:ATAC-STARR-seq lymphoblastoid silent region 2400 [Gene]
  • LOC130003908:ATAC-STARR-seq lymphoblastoid silent region 2401 [Gene]
  • LOC130003909:ATAC-STARR-seq lymphoblastoid silent region 2402 [Gene]
  • LOC130003910:ATAC-STARR-seq lymphoblastoid silent region 2404 [Gene]
  • LOC130003913:ATAC-STARR-seq lymphoblastoid silent region 2405 [Gene]
  • LOC130003914:ATAC-STARR-seq lymphoblastoid silent region 2406 [Gene]
  • LOC130003921:ATAC-STARR-seq lymphoblastoid silent region 2409 [Gene]
  • LOC130003925:ATAC-STARR-seq lymphoblastoid silent region 2410 [Gene]
  • LOC130003926:ATAC-STARR-seq lymphoblastoid silent region 2411 [Gene]
  • LOC130003927:ATAC-STARR-seq lymphoblastoid silent region 2412 [Gene]
  • LOC126860937:BRD4-independent group 4 enhancer GRCh37_chr10:58297350-58298549 [Gene]
  • LOC126860943:BRD4-independent group 4 enhancer GRCh37_chr10:63810242-63811441 [Gene]
  • LOC126860945:BRD4-independent group 4 enhancer GRCh37_chr10:64414839-64416038 [Gene]
  • BICC1:BicC family RNA binding protein 1 [Gene - OMIM - HGNC]
  • CISD1:CDGSH iron sulfur domain 1 [Gene - OMIM - HGNC]
  • LOC126860936:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:58118905-58120104 [Gene]
  • LOC126860940:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:60679234-60680433 [Gene]
  • LOC126860941:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:63169609-63170808 [Gene]
  • LOC126860942:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:63541146-63542345 [Gene]
  • LOC126860944:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:64143375-64144574 [Gene]
  • LOC126860948:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:68197862-68199061 [Gene]
  • LOC116216113:CRISPRi-validated cis-regulatory element chr10.1925 [Gene]
  • JMJD1C-AS1:JMJD1C antisense RNA 1 [Gene - HGNC]
  • JMJD1C-AS2:JMJD1C antisense RNA 2 [Gene - HGNC]
  • LOC126860938:MED14-independent group 3 enhancer GRCh37_chr10:60566642-60567841 [Gene]
  • LOC126860939:MED14-independent group 3 enhancer GRCh37_chr10:60615945-60617144 [Gene]
  • LOC126860947:MED14-independent group 3 enhancer GRCh37_chr10:67374664-67375863 [Gene]
  • LOC129390171:MPRA-validated peak951 silencer [Gene]
  • LOC129390172:MPRA-validated peak953 silencer [Gene]
  • LOC129390173:MPRA-validated peak956 silencer [Gene]
  • LOC129390174:MPRA-validated peak957 silencer [Gene]
  • LOC129390175:MPRA-validated peak958 silencer [Gene]
  • LOC129390176:MPRA-validated peak959 silencer [Gene]
  • LOC129390177:MPRA-validated peak963 silencer [Gene]
  • LOC129390178:MPRA-validated peak967 silencer [Gene]
  • LOC129390179:MPRA-validated peak969 silencer [Gene]
  • LOC129390180:MPRA-validated peak971 silencer [Gene]
  • LOC129390181:MPRA-validated peak972 silencer [Gene]
  • LOC129390182:MPRA-validated peak974 silencer [Gene]
  • LOC129390183:MPRA-validated peak975 silencer [Gene]
  • LOC129390184:MPRA-validated peak978 silencer [Gene]
  • LOC129390185:MPRA-validated peak981 silencer [Gene]
  • LOC129390186:MPRA-validated peak982 silencer [Gene]
  • LOC129390187:MPRA-validated peak984 silencer [Gene]
  • MTRNR2L5:MT-RNR2 like 5 [Gene - HGNC]
  • LOC132089791:Neanderthal introgressed variant-containing enhancer experimental_13381 [Gene]
  • LOC132089793:Neanderthal introgressed variant-containing enhancer experimental_13587 [Gene]
  • LOC132089794:Neanderthal introgressed variant-containing enhancer experimental_13605 [Gene]
  • LOC132090811:Neanderthal introgressed variant-containing enhancer experimental_13640 [Gene]
  • LOC132089795:Neanderthal introgressed variant-containing enhancer experimental_13669 [Gene]
  • LOC132089796:Neanderthal introgressed variant-containing enhancer experimental_13680 [Gene]
  • LOC132089797:Neanderthal introgressed variant-containing enhancer experimental_13703 [Gene]
  • LOC132089798:Neanderthal introgressed variant-containing enhancer experimental_13731 [Gene]
  • LOC132089799:Neanderthal introgressed variant-containing enhancer experimental_13913 [Gene]
  • LOC132090812:Neanderthal introgressed variant-containing enhancer experimental_14056 [Gene]
  • LOC132089801:Neanderthal introgressed variant-containing enhancer experimental_14069 [Gene]
  • LOC132089804:Neanderthal introgressed variant-containing enhancer experimental_14285 [Gene]
  • LOC132089805:Neanderthal introgressed variant-containing enhancer experimental_14356 [Gene]
  • LOC132089806:Neanderthal introgressed variant-containing enhancer experimental_14377 [Gene]
  • LOC132089807:Neanderthal introgressed variant-containing enhancer experimental_14431 [Gene]
  • LOC132089808:Neanderthal introgressed variant-containing enhancer experimental_14444 [Gene]
  • LOC132089809:Neanderthal introgressed variant-containing enhancer experimental_14489 [Gene]
  • LOC132089810:Neanderthal introgressed variant-containing enhancer experimental_14563 [Gene]
  • LOC132089811:Neanderthal introgressed variant-containing enhancer experimental_14639 [Gene]
  • LOC132090813:Neanderthal introgressed variant-containing enhancer experimental_14760 [Gene]
  • LOC132089812:Neanderthal introgressed variant-containing enhancer experimental_14780 [Gene]
  • LOC132089813:Neanderthal introgressed variant-containing enhancer experimental_14849 [Gene]
  • LOC132090814:Neanderthal introgressed variant-containing enhancer experimental_15152 [Gene]
  • LOC132089814:Neanderthal introgressed variant-containing enhancer experimental_15172 [Gene]
  • LOC132089815:Neanderthal introgressed variant-containing enhancer experimental_15180 [Gene]
  • LOC132089816:Neanderthal introgressed variant-containing enhancer experimental_15277 [Gene]
  • LOC132089817:Neanderthal introgressed variant-containing enhancer experimental_15319 [Gene]
  • LOC132089818:Neanderthal introgressed variant-containing enhancer experimental_15324 [Gene]
  • LOC132089819:Neanderthal introgressed variant-containing enhancer experimental_15354 [Gene]
  • LOC132089820:Neanderthal introgressed variant-containing enhancer experimental_15439 [Gene]
  • LOC132089821:Neanderthal introgressed variant-containing enhancer experimental_15446 [Gene]
  • LOC132089822:Neanderthal introgressed variant-containing enhancer experimental_15534 [Gene]
  • LOC132089823:Neanderthal introgressed variant-containing enhancer experimental_15618 [Gene]
  • LOC132089824:Neanderthal introgressed variant-containing enhancer experimental_15623 [Gene]
  • LOC132090815:Neanderthal introgressed variant-containing enhancer experimental_15629 [Gene]
  • LOC132090816:Neanderthal introgressed variant-containing enhancer experimental_15668 [Gene]
  • LOC132089825:Neanderthal introgressed variant-containing enhancer experimental_15678 [Gene]
  • LOC132089826:Neanderthal introgressed variant-containing enhancer experimental_15807 [Gene]
  • LOC132089827:Neanderthal introgressed variant-containing enhancer experimental_15830 [Gene]
  • LOC132211101:Neanderthal introgressed variant-containing enhancers experimental_13720/13722 and experimental_13723 [Gene]
  • LOC126860946:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:65466673-65467872 [Gene]
  • RHOBTB1:Rho related BTB domain containing 1 [Gene - OMIM - HGNC]
  • LOC121815940:Sharpr-MPRA regulatory region 11473 [Gene]
  • LOC121815942:Sharpr-MPRA regulatory region 11943 [Gene]
  • LOC124403963:Sharpr-MPRA regulatory region 13978 [Gene]
  • LOC121366056:Sharpr-MPRA regulatory region 14495 [Gene]
  • LOC124403970:Sharpr-MPRA regulatory region 14987 [Gene]
  • LOC121366057:Sharpr-MPRA regulatory region 2403 [Gene]
  • LOC121815941:Sharpr-MPRA regulatory region 3861 [Gene]
  • LOC124403960:Sharpr-MPRA regulatory region 3982 [Gene]
  • LOC111946248:Sharpr-MPRA regulatory region 4517 [Gene]
  • LOC124403961:Sharpr-MPRA regulatory region 5027 [Gene]
  • LOC124403966:Sharpr-MPRA regulatory region 5662 [Gene]
  • LOC124403962:Sharpr-MPRA regulatory region 6107 [Gene]
  • LOC111946249:Sharpr-MPRA regulatory region 6196 [Gene]
  • LOC124403959:Sharpr-MPRA regulatory region 6982 [Gene]
  • LOC111946247:Sharpr-MPRA regulatory region 7957 [Gene]
  • LOC124403969:Sharpr-MPRA regulatory region 9231 [Gene]
  • LOC124403968:Sharpr-MPRA regulatory region 9742 [Gene]
  • LOC124403967:Sharpr-MPRA regulatory region 9763 [Gene]
  • LOC121815939:Sharpr-MPRA regulatory region 9892 [Gene]
  • TMEM26-AS1:TMEM26 antisense RNA 1 [Gene - HGNC]
  • ZWINT:ZW10 interacting kinetochore protein [Gene - OMIM - HGNC]
  • ANK3:ankyrin 3 [Gene - OMIM - HGNC]
  • CTNNA3:catenin alpha 3 [Gene - OMIM - HGNC]
  • CCEPR:cervical carcinoma expressed PCNA regulatory lncRNA [Gene - HGNC]
  • CABCOCO1:ciliary associated calcium binding coiled-coil 1 [Gene - HGNC]
  • CCDC6:coiled-coil domain containing 6 [Gene - OMIM - HGNC]
  • CDK1:cyclin dependent kinase 1 [Gene - OMIM - HGNC]
  • EGR2:early growth response 2 [Gene - OMIM - HGNC]
  • FAM13C:family with sequence similarity 13 member C [Gene - HGNC]
  • IPMK:inositol polyphosphate multikinase [Gene - OMIM - HGNC]
  • JMJD1C:jumonji domain containing 1C [Gene - OMIM - HGNC]
  • LRRTM3:leucine rich repeat transmembrane neuronal 3 [Gene - OMIM - HGNC]
  • LINC01515:long intergenic non-protein coding RNA 1515 [Gene - HGNC]
  • LINC01553:long intergenic non-protein coding RNA 1553 [Gene - HGNC]
  • LINC02621:long intergenic non-protein coding RNA 2621 [Gene - HGNC]
  • LINC02671:long intergenic non-protein coding RNA 2671 [Gene - HGNC]
  • LINC00844:long intergenic non-protein coding RNA 844 [Gene - HGNC]
  • LINC00845:long intergenic non-protein coding RNA 845 [Gene - HGNC]
  • MIR1296:microRNA 1296 [Gene - HGNC]
  • MIR3924:microRNA 3924 [Gene - HGNC]
  • MIR7151:microRNA 7151 [Gene - HGNC]
  • MRLN:myoregulin [Gene - OMIM - HGNC]
  • NRBF2:nuclear receptor binding factor 2 [Gene - OMIM - HGNC]
  • PHYHIPL:phytanoyl-CoA 2-hydroxylase interacting protein like [Gene - HGNC]
  • PCDH15:protocadherin related 15 [Gene - OMIM - HGNC]
  • REEP3:receptor accessory protein 3 [Gene - OMIM - HGNC]
  • RTKN2:rhotekin 2 [Gene - OMIM - HGNC]
  • SLC16A9:solute carrier family 16 member 9 [Gene - OMIM - HGNC]
  • TFAM:transcription factor A, mitochondrial [Gene - OMIM - HGNC]
  • TMEM26:transmembrane protein 26 [Gene - OMIM - HGNC]
  • UBE2D1:ubiquitin conjugating enzyme E2 D1 [Gene - OMIM - HGNC]
  • LOC101928961:uncharacterized LOC101928961 [Gene]
  • LOC105378328:uncharacterized LOC105378328 [Gene]
  • LOC107984236:uncharacterized LOC107984236 [Gene]
  • LOC112268068:uncharacterized LOC112268068 [Gene]
  • LOC283045:uncharacterized LOC283045 [Gene]
  • ZNF365:zinc finger protein 365 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
10q21.1-21.3
Genomic location:
Preferred name:
GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3
HGVS:
  • NC_000010.11:g.(?_55287177)_(67558442_?)dup
  • NC_000010.10:g.(?_57046937)_(69318200_?)dup
Links:
dbVar: nssv1608778; dbVar: nsv932569
Observations:
1

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000182058GeneDx
no assertion criteria provided
Pathogenic
(Apr 30, 2011) 		not providedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000182058.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023