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GRCh38/hg38 17p13.1(chr17:7210345-7496934)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:
RCV000053425.4

Allele description

GRCh38/hg38 17p13.1(chr17:7210345-7496934)x1

Genes:
  • LOC130060115:ATAC-STARR-seq lymphoblastoid active region 11604 [Gene]
  • LOC130060117:ATAC-STARR-seq lymphoblastoid active region 11605 [Gene]
  • LOC130060120:ATAC-STARR-seq lymphoblastoid active region 11607 [Gene]
  • LOC130060126:ATAC-STARR-seq lymphoblastoid active region 11608 [Gene]
  • LOC130060129:ATAC-STARR-seq lymphoblastoid active region 11610 [Gene]
  • LOC130060130:ATAC-STARR-seq lymphoblastoid active region 11611 [Gene]
  • LOC130060132:ATAC-STARR-seq lymphoblastoid active region 11614 [Gene]
  • LOC130060133:ATAC-STARR-seq lymphoblastoid active region 11615 [Gene]
  • LOC130060134:ATAC-STARR-seq lymphoblastoid active region 11616 [Gene]
  • LOC130060135:ATAC-STARR-seq lymphoblastoid active region 11617 [Gene]
  • LOC130060142:ATAC-STARR-seq lymphoblastoid active region 11618 [Gene]
  • LOC130060144:ATAC-STARR-seq lymphoblastoid active region 11619 [Gene]
  • LOC130060145:ATAC-STARR-seq lymphoblastoid active region 11620 [Gene]
  • LOC130060151:ATAC-STARR-seq lymphoblastoid active region 11623 [Gene]
  • LOC130060113:ATAC-STARR-seq lymphoblastoid silent region 8088 [Gene]
  • LOC130060114:ATAC-STARR-seq lymphoblastoid silent region 8089 [Gene]
  • LOC130060116:ATAC-STARR-seq lymphoblastoid silent region 8090 [Gene]
  • LOC130060118:ATAC-STARR-seq lymphoblastoid silent region 8094 [Gene]
  • LOC130060119:ATAC-STARR-seq lymphoblastoid silent region 8097 [Gene]
  • LOC130060121:ATAC-STARR-seq lymphoblastoid silent region 8098 [Gene]
  • LOC130060122:ATAC-STARR-seq lymphoblastoid silent region 8100 [Gene]
  • LOC130060123:ATAC-STARR-seq lymphoblastoid silent region 8101 [Gene]
  • LOC130060124:ATAC-STARR-seq lymphoblastoid silent region 8102 [Gene]
  • LOC130060125:ATAC-STARR-seq lymphoblastoid silent region 8103 [Gene]
  • LOC130060127:ATAC-STARR-seq lymphoblastoid silent region 8105 [Gene]
  • LOC130060128:ATAC-STARR-seq lymphoblastoid silent region 8106 [Gene]
  • LOC130060131:ATAC-STARR-seq lymphoblastoid silent region 8107 [Gene]
  • LOC130060136:ATAC-STARR-seq lymphoblastoid silent region 8110 [Gene]
  • LOC130060137:ATAC-STARR-seq lymphoblastoid silent region 8111 [Gene]
  • LOC130060138:ATAC-STARR-seq lymphoblastoid silent region 8112 [Gene]
  • LOC130060139:ATAC-STARR-seq lymphoblastoid silent region 8113 [Gene]
  • LOC130060140:ATAC-STARR-seq lymphoblastoid silent region 8114 [Gene]
  • LOC130060141:ATAC-STARR-seq lymphoblastoid silent region 8115 [Gene]
  • LOC130060143:ATAC-STARR-seq lymphoblastoid silent region 8116 [Gene]
  • LOC130060146:ATAC-STARR-seq lymphoblastoid silent region 8120 [Gene]
  • LOC130060147:ATAC-STARR-seq lymphoblastoid silent region 8121 [Gene]
  • LOC130060148:ATAC-STARR-seq lymphoblastoid silent region 8122 [Gene]
  • LOC130060149:ATAC-STARR-seq lymphoblastoid silent region 8123 [Gene]
  • LOC130060150:ATAC-STARR-seq lymphoblastoid silent region 8124 [Gene]
  • ACAP1:ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 [Gene - OMIM - HGNC]
  • LOC126862480:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:7132793-7133992 [Gene]
  • CTDNEP1:CTD nuclear envelope phosphatase 1 [Gene - OMIM - HGNC]
  • GPS2:G protein pathway suppressor 2 [Gene - OMIM - HGNC]
  • GABARAP:GABA type A receptor-associated protein [Gene - OMIM - HGNC]
  • PHF23:PHD finger protein 23 [Gene - OMIM - HGNC]
  • POLR2A:RNA polymerase II subunit A [Gene - OMIM - HGNC]
  • SPEM2:SPEM family member 2 [Gene - HGNC]
  • SPEM3:SPEM family member 3 [Gene - HGNC]
  • LOC121587573:Sharpr-MPRA regulatory region 12633 [Gene]
  • LOC112533664:Sharpr-MPRA regulatory region 1992 [Gene]
  • LOC121852920:Sharpr-MPRA regulatory region 7888 [Gene]
  • TMEM256-PLSCR3:TMEM256-PLSCR3 readthrough (NMD candidate) [Gene - HGNC]
  • YBX2:Y-box binding protein 2 [Gene - OMIM - HGNC]
  • ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
  • CHRNB1:cholinergic receptor nicotinic beta 1 subunit [Gene - OMIM - HGNC]
  • CLDN7:claudin 7 [Gene - OMIM - HGNC]
  • DLG4:discs large MAGUK scaffold protein 4 [Gene - OMIM - HGNC]
  • DVL2:dishevelled segment polarity protein 2 [Gene - OMIM - HGNC]
  • ELP5:elongator acetyltransferase complex subunit 5 [Gene - OMIM - HGNC]
  • EIF5A:eukaryotic translation initiation factor 5A [Gene - OMIM - HGNC]
  • FGF11:fibroblast growth factor 11 [Gene - OMIM - HGNC]
  • MIR324:microRNA 324 [Gene - HGNC]
  • NEURL4:neuralized E3 ubiquitin protein ligase 4 [Gene - OMIM - HGNC]
  • NLGN2:neuroligin 2 [Gene - OMIM - HGNC]
  • PLSCR3:phospholipid scramblase 3 [Gene - OMIM - HGNC]
  • KCTD11:potassium channel tetramerization domain containing 11 [Gene - OMIM - HGNC]
  • SLC2A4:solute carrier family 2 member 4 [Gene - OMIM - HGNC]
  • SLC35G6:solute carrier family 35 member G6 [Gene - HGNC]
  • SPEM1:spermatid maturation 1 [Gene - OMIM - HGNC]
  • TMEM102:transmembrane protein 102 [Gene - OMIM - HGNC]
  • TMEM256:transmembrane protein 256 [Gene - OMIM - HGNC]
  • TMEM95:transmembrane protein 95 [Gene - OMIM - HGNC]
  • TNK1:tyrosine kinase non receptor 1 [Gene - OMIM - HGNC]
  • ZBTB4:zinc finger and BTB domain containing 4 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
GRCh38/hg38 17p13.1(chr17:7210345-7496934)x1
HGVS:
  • NC_000017.11:g.(?_7210345)_(7496934_?)del
  • NC_000017.10:g.(?_7113664)_(7400253_?)del
  • NC_000017.9:g.(?_7054388)_(7340977_?)del
Links:
dbVar: nssv577597; dbVar: nsv532107
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
SCV000080783ISCA site 15

See additional submitters

criteria provided, single submitter

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

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde 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 15, SCV000080783.4

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

Last Updated: Oct 14, 2023