U.S. flag

An official website of the United States government

GRCh38/hg38 16p13.3(chr16:2304443-2676863)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 18, 2014
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:
RCV000142177.7

Allele description [Variation Report for GRCh38/hg38 16p13.3(chr16:2304443-2676863)x1]

GRCh38/hg38 16p13.3(chr16:2304443-2676863)x1

Genes:
  • PDPK1:3-phosphoinositide dependent protein kinase 1 [Gene - OMIM - HGNC]
  • LOC130058231:ATAC-STARR-seq lymphoblastoid active region 10264 [Gene]
  • LOC130058232:ATAC-STARR-seq lymphoblastoid active region 10265 [Gene]
  • LOC130058235:ATAC-STARR-seq lymphoblastoid active region 10267 [Gene]
  • LOC130058240:ATAC-STARR-seq lymphoblastoid active region 10269 [Gene]
  • LOC130058247:ATAC-STARR-seq lymphoblastoid active region 10270 [Gene]
  • LOC130058248:ATAC-STARR-seq lymphoblastoid active region 10271 [Gene]
  • LOC130058253:ATAC-STARR-seq lymphoblastoid active region 10272 [Gene]
  • LOC130058257:ATAC-STARR-seq lymphoblastoid active region 10274 [Gene]
  • LOC130058258:ATAC-STARR-seq lymphoblastoid active region 10275 [Gene]
  • LOC130058229:ATAC-STARR-seq lymphoblastoid silent region 7041 [Gene]
  • LOC130058230:ATAC-STARR-seq lymphoblastoid silent region 7042 [Gene]
  • LOC130058233:ATAC-STARR-seq lymphoblastoid silent region 7044 [Gene]
  • LOC130058234:ATAC-STARR-seq lymphoblastoid silent region 7045 [Gene]
  • LOC130058236:ATAC-STARR-seq lymphoblastoid silent region 7046 [Gene]
  • LOC130058237:ATAC-STARR-seq lymphoblastoid silent region 7047 [Gene]
  • LOC130058238:ATAC-STARR-seq lymphoblastoid silent region 7048 [Gene]
  • LOC130058239:ATAC-STARR-seq lymphoblastoid silent region 7049 [Gene]
  • LOC130058241:ATAC-STARR-seq lymphoblastoid silent region 7050 [Gene]
  • LOC130058242:ATAC-STARR-seq lymphoblastoid silent region 7051 [Gene]
  • LOC130058243:ATAC-STARR-seq lymphoblastoid silent region 7052 [Gene]
  • LOC130058244:ATAC-STARR-seq lymphoblastoid silent region 7053 [Gene]
  • LOC130058245:ATAC-STARR-seq lymphoblastoid silent region 7054 [Gene]
  • LOC130058246:ATAC-STARR-seq lymphoblastoid silent region 7055 [Gene]
  • LOC130058249:ATAC-STARR-seq lymphoblastoid silent region 7056 [Gene]
  • LOC130058250:ATAC-STARR-seq lymphoblastoid silent region 7057 [Gene]
  • LOC130058251:ATAC-STARR-seq lymphoblastoid silent region 7058 [Gene]
  • LOC130058252:ATAC-STARR-seq lymphoblastoid silent region 7059 [Gene]
  • LOC130058254:ATAC-STARR-seq lymphoblastoid silent region 7060 [Gene]
  • LOC130058255:ATAC-STARR-seq lymphoblastoid silent region 7061 [Gene]
  • LOC130058256:ATAC-STARR-seq lymphoblastoid silent region 7062 [Gene]
  • LOC130058259:ATAC-STARR-seq lymphoblastoid silent region 7063 [Gene]
  • LOC130058260:ATAC-STARR-seq lymphoblastoid silent region 7064 [Gene]
  • ABCA3:ATP binding cassette subfamily A member 3 [Gene - OMIM - HGNC]
  • ATP6V0C:ATPase H+ transporting V0 subunit c [Gene - OMIM - HGNC]
  • LOC112340388:Sharpr-MPRA regulatory region 3130 [Gene]
  • LOC121530611:Sharpr-MPRA regulatory region 4251 [Gene]
  • TBC1D24:TBC1 domain family member 24 [Gene - OMIM - HGNC]
  • TEDC2-AS1:TEDC2 antisense RNA 1 [Gene - HGNC]
  • AMDHD2:amidohydrolase domain containing 2 [Gene - HGNC]
  • CEMP1:cementum protein 1 [Gene - OMIM - HGNC]
  • LOC106783500:conserved acetylation island sequence C01 enhancer [Gene]
  • CCNF:cyclin F [Gene - OMIM - HGNC]
  • ERVK13-1:endogenous retrovirus group K13 member 1 [Gene - HGNC]
  • MIR3178:microRNA 3178 [Gene - HGNC]
  • MIR6767:microRNA 6767 [Gene - HGNC]
  • MIR6768:microRNA 6768 [Gene - HGNC]
  • NTN3:netrin 3 [Gene - OMIM - HGNC]
  • TEDC2:tubulin epsilon and delta complex 2 [Gene - HGNC]
  • LOC105371050:uncharacterized LOC105371050 [Gene]
  • FLJ42627:uncharacterized LOC645644 [Gene]
Variant type:
copy number loss
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
GRCh38/hg38 16p13.3(chr16:2304443-2676863)x1
HGVS:
  • NC_000016.10:g.(?_2304443)_(2676863_?)del
  • NC_000016.8:g.(?_2294445)_(2666865_?)del
  • NC_000016.9:g.(?_2354444)_(2726864_?)del
Links:
dbVar: nssv3397379; dbVar: nsv995995
Observations:
1

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000183424ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Jul 18, 2014) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not 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 1, SCV000183424.4

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

Last Updated: May 7, 2024