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GRCh38/hg38 17p13.3(chr17:193307-1376276)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:
RCV000053385.7

Allele description [Variation Report for GRCh38/hg38 17p13.3(chr17:193307-1376276)x1]

GRCh38/hg38 17p13.3(chr17:193307-1376276)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]
  • 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]
  • 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]
  • LOC126862456:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:463241-464440 [Gene]
  • LOC129390818:MPRA-validated peak2673 silencer [Gene]
  • LOC132090892:Neanderthal introgressed variant-containing enhancer experimental_47292 [Gene]
  • LOC132090483:Neanderthal introgressed variant-containing enhancer experimental_47633 [Gene]
  • LOC126862454:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:216819-218018 [Gene]
  • RPH3AL-AS1:RPH3AL antisense RNA 1 [Gene - HGNC]
  • LOC121848002:Sharpr-MPRA regulatory region 11717 [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]
  • LOC112529901:Sharpr-MPRA regulatory region 2375 [Gene]
  • LOC125177399:Sharpr-MPRA regulatory region 8461 [Gene]
  • LOC121587568:Sharpr-MPRA regulatory region 8532 [Gene]
  • LOC121587569:Sharpr-MPRA regulatory region 9475 [Gene]
  • LOC125177401:Sharpr-MPRA regulatory region 9814 [Gene]
  • TLCD3A:TLC domain containing 3A [Gene - OMIM - HGNC]
  • VPS53:VPS53 subunit of GARP complex [Gene - OMIM - HGNC]
  • BHLHA9:basic helix-loop-helix family member a9 [Gene - OMIM - HGNC]
  • GEMIN4:gem nuclear organelle associated protein 4 [Gene - OMIM - HGNC]
  • GLOD4:glyoxalase domain containing 4 [Gene - OMIM - HGNC]
  • LIAT1:ligand of ATE1 [Gene - HGNC]
  • MIR3183:microRNA 3183 [Gene - HGNC]
  • MRM3:mitochondrial rRNA methyltransferase 3 [Gene - OMIM - HGNC]
  • NXN:nucleoredoxin [Gene - OMIM - HGNC]
  • RPH3AL:rabphilin 3A like (without C2 domains) [Gene - OMIM - HGNC]
  • RFLNB:refilin B [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]
  • LOC105371430:uncharacterized LOC105371430 [Gene]
Variant type:
copy number loss
Cytogenetic location:
17p13.3
Genomic location:
Preferred name:
GRCh38/hg38 17p13.3(chr17:193307-1376276)x1
HGVS:
  • NC_000017.11:g.(?_193307)_(1376276_?)del
  • NC_000017.10:g.(?_45835)_(1279570_?)del
  • NC_000017.9:g.(?_43098)_(1226320_?)del
Links:
dbVar: nssv577582; dbVar: nsv532066
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
SCV000080743ISCA Site 6

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 6, SCV000080743.5

#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