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GRCh38/hg38 16p13.3(chr16:2406643-2782411)x1 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 4, 2013
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:
RCV000141237.7

Allele description [Variation Report for GRCh38/hg38 16p13.3(chr16:2406643-2782411)x1]

GRCh38/hg38 16p13.3(chr16:2406643-2782411)x1

Genes:
  • PDPK1:3-phosphoinositide dependent protein kinase 1 [Gene - OMIM - HGNC]
  • 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]
  • LOC130058262:ATAC-STARR-seq lymphoblastoid active region 10278 [Gene]
  • LOC130058263:ATAC-STARR-seq lymphoblastoid active region 10279 [Gene]
  • LOC130058269:ATAC-STARR-seq lymphoblastoid active region 10283 [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]
  • LOC130058261:ATAC-STARR-seq lymphoblastoid silent region 7065 [Gene]
  • LOC130058264:ATAC-STARR-seq lymphoblastoid silent region 7066 [Gene]
  • LOC130058265:ATAC-STARR-seq lymphoblastoid silent region 7067 [Gene]
  • LOC130058266:ATAC-STARR-seq lymphoblastoid silent region 7068 [Gene]
  • LOC130058267:ATAC-STARR-seq lymphoblastoid silent region 7070 [Gene]
  • LOC130058268:ATAC-STARR-seq lymphoblastoid silent region 7073 [Gene]
  • ATP6V0C:ATPase H+ transporting V0 subunit c [Gene - OMIM - HGNC]
  • LOC126862261:BRD4-independent group 4 enhancer GRCh37_chr16:2807529-2808728 [Gene]
  • SRRM2-AS1:SRRM2 antisense RNA 1 [Gene - HGNC]
  • 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]
  • ELOB:elongin B [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]
  • KCTD5:potassium channel tetramerization domain containing 5 [Gene - OMIM - HGNC]
  • PRSS27:serine protease 27 [Gene - OMIM - HGNC]
  • SRRM2:serine/arginine repetitive matrix 2 [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(chr16:2406643-2782411)x1
HGVS:
  • NC_000016.10:g.(?_2406643)_(2782411_?)del
  • NC_000016.8:g.(?_2396645)_(2772413_?)del
  • NC_000016.9:g.(?_2456644)_(2832412_?)del
Links:
dbVar: nssv1608864; dbVar: nsv932637
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
SCV000182126ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Apr 4, 2013) 		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

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, SCV000182126.4

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

Last Updated: May 7, 2024