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GRCh38/hg38 16p13.11(chr16:15387890-16294387)x1 AND See cases

Germline classification:
Pathogenic (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:
RCV000142066.6

Allele description [Variation Report for GRCh38/hg38 16p13.11(chr16:15387890-16294387)x1]

GRCh38/hg38 16p13.11(chr16:15387890-16294387)x1

Genes:
  • ABCC1:ATP binding cassette subfamily C member 1 (ABCC1 blood group) [Gene - OMIM - HGNC]
  • ABCC6:ATP binding cassette subfamily C member 6 [Gene - OMIM - HGNC]
  • LOC121587532:BRD4-independent group 4 enhancer GRCh37_chr16:15972689-15973888 [Gene]
  • LOC126862299:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:15693082-15694281 [Gene]
  • MPV17L:MPV17 mitochondrial inner membrane protein like [Gene - OMIM - HGNC]
  • MPV17L-BMERB1:MPV17L-BMERB1 readthrough [Gene]
  • NOMO3:NODAL modulator 3 [Gene - OMIM - HGNC]
  • LOC126862298:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:15587399-15588598 [Gene]
  • LOC121847972:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:15684383-15685582 [Gene]
  • LOC126862300:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:15993095-15994294 [Gene]
  • LOC121847973:Sharpr-MPRA regulatory region 10508 [Gene]
  • LOC112340383:Sharpr-MPRA regulatory region 11301 [Gene]
  • LOC112340381:Sharpr-MPRA regulatory region 12074 [Gene]
  • LOC112340379:Sharpr-MPRA regulatory region 1380 [Gene]
  • LOC125146421:Sharpr-MPRA regulatory region 15590 [Gene]
  • LOC112340382:Sharpr-MPRA regulatory region 4662 [Gene]
  • LOC113939949:Sharpr-MPRA regulatory region 5546 [Gene]
  • LOC125146419:Sharpr-MPRA regulatory region 7034 [Gene]
  • LOC125146420:Sharpr-MPRA regulatory region 7660 [Gene]
  • LOC112340380:Sharpr-MPRA regulatory region 9672 [Gene]
  • BMERB1:bMERB domain containing 1 [Gene - HGNC]
  • CEP20:centrosomal protein 20 [Gene - OMIM - HGNC]
  • MARF1:meiosis regulator and mRNA stability factor 1 [Gene - OMIM - HGNC]
  • MIR484:microRNA 484 [Gene - HGNC]
  • MIR6506:microRNA 6506 [Gene - HGNC]
  • MYH11:myosin heavy chain 11 [Gene - OMIM - HGNC]
  • NDE1:nudE neurodevelopment protein 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
16p13.11
Genomic location:
Preferred name:
GRCh38/hg38 16p13.11(chr16:15387890-16294387)x1
HGVS:
  • NC_000016.10:g.(?_15387890)_(16294387_?)del
  • NC_000016.8:g.(?_15389248)_(16295745_?)del
  • NC_000016.9:g.(?_15481747)_(16388244_?)del
Links:
dbVar: nssv3395013; dbVar: nsv995806
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
SCV000183233ISCA site 1

See additional submitters

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

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humanmaternalyes1not 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, SCV000183233.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024