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GRCh38/hg38 17p13.3(chr17:198748-2261786)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:
RCV000051148.5

Allele description [Variation Report for GRCh38/hg38 17p13.3(chr17:198748-2261786)x1]

GRCh38/hg38 17p13.3(chr17:198748-2261786)x1

Genes:
  • ABR:ABR activator of RhoGEF and GTPase [Gene - OMIM - HGNC]
  • ABR-AS1:ABR antisense RNA 1 [Gene - HGNC]
  • LOC130059858:ATAC-STARR-seq lymphoblastoid active region 11437 [Gene]
  • LOC130059861:ATAC-STARR-seq lymphoblastoid active region 11438 [Gene]
  • LOC130059865:ATAC-STARR-seq lymphoblastoid active region 11439 [Gene]
  • LOC130059868:ATAC-STARR-seq lymphoblastoid active region 11440 [Gene]
  • LOC130059869:ATAC-STARR-seq lymphoblastoid active region 11442 [Gene]
  • LOC130059870:ATAC-STARR-seq lymphoblastoid active region 11443 [Gene]
  • LOC130059871:ATAC-STARR-seq lymphoblastoid active region 11444 [Gene]
  • LOC130059872:ATAC-STARR-seq lymphoblastoid active region 11446 [Gene]
  • LOC130059873:ATAC-STARR-seq lymphoblastoid active region 11447 [Gene]
  • LOC130059876:ATAC-STARR-seq lymphoblastoid active region 11448 [Gene]
  • LOC130059877:ATAC-STARR-seq lymphoblastoid active region 11449 [Gene]
  • LOC130059879:ATAC-STARR-seq lymphoblastoid active region 11450 [Gene]
  • LOC130059880:ATAC-STARR-seq lymphoblastoid active region 11451 [Gene]
  • LOC130059881:ATAC-STARR-seq lymphoblastoid active region 11452 [Gene]
  • LOC130059886:ATAC-STARR-seq lymphoblastoid active region 11453 [Gene]
  • LOC130059887:ATAC-STARR-seq lymphoblastoid active region 11454 [Gene]
  • LOC130059890:ATAC-STARR-seq lymphoblastoid active region 11455 [Gene]
  • LOC130059891:ATAC-STARR-seq lymphoblastoid active region 11456 [Gene]
  • LOC130059892:ATAC-STARR-seq lymphoblastoid active region 11457 [Gene]
  • LOC130059893:ATAC-STARR-seq lymphoblastoid active region 11458 [Gene]
  • LOC130059896:ATAC-STARR-seq lymphoblastoid active region 11459 [Gene]
  • LOC130059897:ATAC-STARR-seq lymphoblastoid active region 11460 [Gene]
  • LOC130059898:ATAC-STARR-seq lymphoblastoid active region 11461 [Gene]
  • LOC130059900:ATAC-STARR-seq lymphoblastoid active region 11462 [Gene]
  • LOC130059902:ATAC-STARR-seq lymphoblastoid active region 11463 [Gene]
  • LOC130059920:ATAC-STARR-seq lymphoblastoid active region 11464 [Gene]
  • LOC130059921:ATAC-STARR-seq lymphoblastoid active region 11465 [Gene]
  • LOC130059922:ATAC-STARR-seq lymphoblastoid active region 11466 [Gene]
  • LOC130059923:ATAC-STARR-seq lymphoblastoid active region 11468 [Gene]
  • LOC130059924:ATAC-STARR-seq lymphoblastoid active region 11469 [Gene]
  • LOC130059925:ATAC-STARR-seq lymphoblastoid active region 11470 [Gene]
  • LOC130059926:ATAC-STARR-seq lymphoblastoid active region 11471 [Gene]
  • LOC130059927:ATAC-STARR-seq lymphoblastoid active region 11472 [Gene]
  • LOC130059928:ATAC-STARR-seq lymphoblastoid active region 11473 [Gene]
  • LOC130059929:ATAC-STARR-seq lymphoblastoid active region 11474 [Gene]
  • LOC130059930:ATAC-STARR-seq lymphoblastoid active region 11475 [Gene]
  • LOC130059931:ATAC-STARR-seq lymphoblastoid active region 11476 [Gene]
  • LOC130059932:ATAC-STARR-seq lymphoblastoid active region 11477 [Gene]
  • LOC130059934:ATAC-STARR-seq lymphoblastoid active region 11478 [Gene]
  • LOC130059936:ATAC-STARR-seq lymphoblastoid active region 11479 [Gene]
  • LOC130059937:ATAC-STARR-seq lymphoblastoid active region 11480 [Gene]
  • LOC130059938:ATAC-STARR-seq lymphoblastoid active region 11481 [Gene]
  • LOC130059939:ATAC-STARR-seq lymphoblastoid active region 11482 [Gene]
  • LOC130059940:ATAC-STARR-seq lymphoblastoid active region 11483 [Gene]
  • LOC130059941:ATAC-STARR-seq lymphoblastoid active region 11484 [Gene]
  • LOC130059942:ATAC-STARR-seq lymphoblastoid active region 11485 [Gene]
  • LOC130059943:ATAC-STARR-seq lymphoblastoid active region 11486 [Gene]
  • LOC130059944:ATAC-STARR-seq lymphoblastoid active region 11487 [Gene]
  • LOC130059857:ATAC-STARR-seq lymphoblastoid silent region 7938 [Gene]
  • LOC130059859:ATAC-STARR-seq lymphoblastoid silent region 7939 [Gene]
  • LOC130059860:ATAC-STARR-seq lymphoblastoid silent region 7940 [Gene]
  • LOC130059862:ATAC-STARR-seq lymphoblastoid silent region 7941 [Gene]
  • LOC130059863:ATAC-STARR-seq lymphoblastoid silent region 7942 [Gene]
  • LOC130059864:ATAC-STARR-seq lymphoblastoid silent region 7943 [Gene]
  • LOC130059866:ATAC-STARR-seq lymphoblastoid silent region 7944 [Gene]
  • LOC130059867:ATAC-STARR-seq lymphoblastoid silent region 7945 [Gene]
  • LOC130059874:ATAC-STARR-seq lymphoblastoid silent region 7948 [Gene]
  • LOC130059875:ATAC-STARR-seq lymphoblastoid silent region 7949 [Gene]
  • LOC130059878:ATAC-STARR-seq lymphoblastoid silent region 7954 [Gene]
  • LOC130059882:ATAC-STARR-seq lymphoblastoid silent region 7955 [Gene]
  • LOC130059883:ATAC-STARR-seq lymphoblastoid silent region 7956 [Gene]
  • LOC130059884:ATAC-STARR-seq lymphoblastoid silent region 7957 [Gene]
  • LOC130059885:ATAC-STARR-seq lymphoblastoid silent region 7960 [Gene]
  • LOC130059888:ATAC-STARR-seq lymphoblastoid silent region 7961 [Gene]
  • LOC130059889:ATAC-STARR-seq lymphoblastoid silent region 7962 [Gene]
  • LOC130059894:ATAC-STARR-seq lymphoblastoid silent region 7964 [Gene]
  • LOC130059895:ATAC-STARR-seq lymphoblastoid silent region 7965 [Gene]
  • LOC130059899:ATAC-STARR-seq lymphoblastoid silent region 7966 [Gene]
  • LOC130059901:ATAC-STARR-seq lymphoblastoid silent region 7967 [Gene]
  • LOC130059903:ATAC-STARR-seq lymphoblastoid silent region 7968 [Gene]
  • LOC130059904:ATAC-STARR-seq lymphoblastoid silent region 7969 [Gene]
  • LOC130059905:ATAC-STARR-seq lymphoblastoid silent region 7970 [Gene]
  • LOC130059906:ATAC-STARR-seq lymphoblastoid silent region 7971 [Gene]
  • LOC130059907:ATAC-STARR-seq lymphoblastoid silent region 7972 [Gene]
  • LOC130059908:ATAC-STARR-seq lymphoblastoid silent region 7973 [Gene]
  • LOC130059909:ATAC-STARR-seq lymphoblastoid silent region 7974 [Gene]
  • LOC130059910:ATAC-STARR-seq lymphoblastoid silent region 7975 [Gene]
  • LOC130059911:ATAC-STARR-seq lymphoblastoid silent region 7976 [Gene]
  • LOC130059912:ATAC-STARR-seq lymphoblastoid silent region 7977 [Gene]
  • LOC130059913:ATAC-STARR-seq lymphoblastoid silent region 7978 [Gene]
  • LOC130059914:ATAC-STARR-seq lymphoblastoid silent region 7979 [Gene]
  • LOC130059915:ATAC-STARR-seq lymphoblastoid silent region 7980 [Gene]
  • LOC130059916:ATAC-STARR-seq lymphoblastoid silent region 7981 [Gene]
  • LOC130059917:ATAC-STARR-seq lymphoblastoid silent region 7983 [Gene]
  • LOC130059918:ATAC-STARR-seq lymphoblastoid silent region 7984 [Gene]
  • LOC130059919:ATAC-STARR-seq lymphoblastoid silent region 7985 [Gene]
  • LOC130059933:ATAC-STARR-seq lymphoblastoid silent region 7986 [Gene]
  • LOC130059935:ATAC-STARR-seq lymphoblastoid silent region 7987 [Gene]
  • LOC126862461:BRD4-independent group 4 enhancer GRCh37_chr17:2116692-2117891 [Gene]
  • LOC126862455:BRD4-independent group 4 enhancer GRCh37_chr17:252557-253756 [Gene]
  • LOC126862457:BRD4-independent group 4 enhancer GRCh37_chr17:504328-505527 [Gene]
  • LOC126862458:BRD4-independent group 4 enhancer GRCh37_chr17:560426-561625 [Gene]
  • LOC126862459:BRD4-independent group 4 enhancer GRCh37_chr17:800010-801209 [Gene]
  • LOC126862460:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:1974493-1975692 [Gene]
  • LOC126862456:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:463241-464440 [Gene]
  • CRK:CRK proto-oncogene, adaptor protein [Gene - OMIM - HGNC]
  • HIC1:HIC ZBTB transcriptional repressor 1 [Gene - OMIM - HGNC]
  • MIR22HG:MIR22 host gene [Gene - HGNC]
  • LOC129390818:MPRA-validated peak2673 silencer [Gene]
  • LOC129390819:MPRA-validated peak2674 silencer [Gene]
  • LOC129390820:MPRA-validated peak2677 silencer [Gene]
  • LOC132090892:Neanderthal introgressed variant-containing enhancer experimental_47292 [Gene]
  • LOC132090483:Neanderthal introgressed variant-containing enhancer experimental_47633 [Gene]
  • OVCA2:OVCA2 serine hydrolase domain containing [Gene - OMIM - HGNC]
  • LOC126862454:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:216819-218018 [Gene]
  • PITPNA-AS1:PITPNA antisense RNA 1 [Gene - HGNC]
  • RPH3AL-AS1:RPH3AL antisense RNA 1 [Gene - HGNC]
  • RILP:Rab interacting lysosomal protein [Gene - OMIM - HGNC]
  • SMYD4:SET and MYND domain containing 4 [Gene - OMIM - HGNC]
  • SMG6:SMG6 nonsense mediated mRNA decay factor [Gene - OMIM - HGNC]
  • LOC121848002:Sharpr-MPRA regulatory region 11717 [Gene]
  • LOC125177405:Sharpr-MPRA regulatory region 13179 [Gene]
  • LOC121848003:Sharpr-MPRA regulatory region 13189 [Gene]
  • LOC121848004:Sharpr-MPRA regulatory region 14526 [Gene]
  • LOC125177400:Sharpr-MPRA regulatory region 15051 [Gene]
  • LOC125177398:Sharpr-MPRA regulatory region 15212 [Gene]
  • LOC125177403:Sharpr-MPRA regulatory region 224 [Gene]
  • LOC112529901:Sharpr-MPRA regulatory region 2375 [Gene]
  • LOC125177404:Sharpr-MPRA regulatory region 4635 [Gene]
  • LOC112529892:Sharpr-MPRA regulatory region 4720 [Gene]
  • LOC112529893:Sharpr-MPRA regulatory region 4981 [Gene]
  • LOC125177399:Sharpr-MPRA regulatory region 8461 [Gene]
  • LOC121587568:Sharpr-MPRA regulatory region 8532 [Gene]
  • LOC121587569:Sharpr-MPRA regulatory region 9475 [Gene]
  • LOC121587570:Sharpr-MPRA regulatory region 9675 [Gene]
  • LOC125177401:Sharpr-MPRA regulatory region 9814 [Gene]
  • TLCD2:TLC domain containing 2 [Gene - HGNC]
  • TLCD3A:TLC domain containing 3A [Gene - OMIM - HGNC]
  • LOC110121369:VISTA enhancer hs1445 [Gene]
  • LOC110120951:VISTA enhancer hs924 [Gene]
  • VPS53:VPS53 subunit of GARP complex [Gene - OMIM - HGNC]
  • WDR81:WD repeat domain 81 [Gene - OMIM - HGNC]
  • BHLHA9:basic helix-loop-helix family member a9 [Gene - OMIM - HGNC]
  • DPH1:diphthamide biosynthesis 1 [Gene - OMIM - HGNC]
  • GEMIN4:gem nuclear organelle associated protein 4 [Gene - OMIM - HGNC]
  • GLOD4:glyoxalase domain containing 4 [Gene - OMIM - HGNC]
  • LOC107988047:heart enhancer 8 [Gene]
  • INPP5K:inositol polyphosphate-5-phosphatase K [Gene - OMIM - HGNC]
  • LIAT1:ligand of ATE1 [Gene - HGNC]
  • MIR132:microRNA 132 [Gene - OMIM - HGNC]
  • MIR212:microRNA 212 [Gene - OMIM - HGNC]
  • MIR22:microRNA 22 [Gene - OMIM - HGNC]
  • MIR3183:microRNA 3183 [Gene - HGNC]
  • MRM3:mitochondrial rRNA methyltransferase 3 [Gene - OMIM - HGNC]
  • MYO1C:myosin IC [Gene - OMIM - HGNC]
  • NXN:nucleoredoxin [Gene - OMIM - HGNC]
  • PITPNA:phosphatidylinositol transfer protein alpha [Gene - OMIM - HGNC]
  • PRPF8:pre-mRNA processing factor 8 [Gene - OMIM - HGNC]
  • RPH3AL:rabphilin 3A like (without C2 domains) [Gene - OMIM - HGNC]
  • RFLNB:refilin B [Gene - OMIM - HGNC]
  • RPA1:replication protein A1 [Gene - OMIM - HGNC]
  • RTN4RL1:reticulon 4 receptor like 1 [Gene - OMIM - HGNC]
  • SCARF1:scavenger receptor class F member 1 [Gene - OMIM - HGNC]
  • SERPINF1:serpin family F member 1 [Gene - OMIM - HGNC]
  • SERPINF2:serpin family F member 2 [Gene - OMIM - HGNC]
  • SLC43A2:solute carrier family 43 member 2 [Gene - OMIM - HGNC]
  • TRARG1:trafficking regulator of GLUT4 (SLC2A4) 1 [Gene - OMIM - HGNC]
  • TIMM22:translocase of inner mitochondrial membrane 22 [Gene - OMIM - HGNC]
  • YWHAE:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon [Gene - OMIM - HGNC]
  • LOC101927727:uncharacterized LOC101927727 [Gene]
  • LOC101927839:uncharacterized LOC101927839 [Gene]
  • LOC105371430:uncharacterized LOC105371430 [Gene]
  • LOC105371485:uncharacterized LOC105371485 [Gene]
Variant type:
copy number loss
Cytogenetic location:
17p13.3
Genomic location:
Preferred name:
GRCh38/hg38 17p13.3(chr17:198748-2261786)x1
HGVS:
  • NC_000017.11:g.(?_198748)_(2261786_?)del
  • NC_000017.10:g.(?_50690)_(2165080_?)del
  • NC_000017.9:g.(?_48539)_(2111830_?)del
Links:
dbVar: nssv577584; dbVar: nsv529695
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
SCV000078491ISCA site 4

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 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

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 4, SCV000078491.4

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

Last Updated: Sep 1, 2024