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GRCh38/hg38 17p13.3(chr17:1209808-1931101)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 30, 2010
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:
RCV000135342.6

Allele description [Variation Report for GRCh38/hg38 17p13.3(chr17:1209808-1931101)x3]

GRCh38/hg38 17p13.3(chr17:1209808-1931101)x3

Genes:
  • ABR:ABR activator of RhoGEF and GTPase [Gene - OMIM - HGNC]
  • 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]
  • 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]
  • CRK:CRK proto-oncogene, adaptor protein [Gene - OMIM - HGNC]
  • MIR22HG:MIR22 host gene [Gene - HGNC]
  • LOC129390819:MPRA-validated peak2674 silencer [Gene]
  • PITPNA-AS1:PITPNA antisense RNA 1 [Gene - HGNC]
  • RILP:Rab interacting lysosomal protein [Gene - OMIM - HGNC]
  • SMYD4:SET and MYND domain containing 4 [Gene - OMIM - HGNC]
  • LOC125177405:Sharpr-MPRA regulatory region 13179 [Gene]
  • LOC121848004:Sharpr-MPRA regulatory region 14526 [Gene]
  • LOC125177403:Sharpr-MPRA regulatory region 224 [Gene]
  • LOC125177404:Sharpr-MPRA regulatory region 4635 [Gene]
  • LOC112529892:Sharpr-MPRA regulatory region 4720 [Gene]
  • LOC112529893:Sharpr-MPRA regulatory region 4981 [Gene]
  • TLCD2:TLC domain containing 2 [Gene - HGNC]
  • WDR81:WD repeat domain 81 [Gene - OMIM - HGNC]
  • BHLHA9:basic helix-loop-helix family member a9 [Gene - OMIM - HGNC]
  • INPP5K:inositol polyphosphate-5-phosphatase K [Gene - OMIM - HGNC]
  • MIR22:microRNA 22 [Gene - OMIM - HGNC]
  • MYO1C:myosin IC [Gene - OMIM - HGNC]
  • PITPNA:phosphatidylinositol transfer protein alpha [Gene - OMIM - HGNC]
  • PRPF8:pre-mRNA processing factor 8 [Gene - OMIM - HGNC]
  • RPA1:replication protein A1 [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]
  • YWHAE:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
17p13.3
Genomic location:
Preferred name:
GRCh38/hg38 17p13.3(chr17:1209808-1931101)x3
HGVS:
  • NC_000017.11:g.(?_1209808)_(1931101_?)dup
  • NC_000017.10:g.(?_1113102)_(1834395_?)dup
Links:
dbVar: nssv585237; dbVar: nsv498521
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
SCV000175022ISCA Site 6

See additional submitters

no assertion criteria provided
Pathogenic
(Nov 30, 2010) 		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

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA Site 6, SCV000175022.3

#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