GRCh38/hg38 16p13.11(chr16:14954875-16100718)x3 AND See cases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 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:: RCV000134080.5

Allele description [Variation Report for GRCh38/hg38 16p13.11(chr16:14954875-16100718)x3]

GRCh38/hg38 16p13.11(chr16:14954875-16100718)x3

Genes:

ABCC1:ATP binding cassette subfamily C member 1 (ABCC1 blood group) [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]
LOC129390770:MPRA-validated peak2507 silencer [Gene]
MPV17L:MPV17 mitochondrial inner membrane protein like [Gene - OMIM - HGNC]
MPV17L-BMERB1:MPV17L-BMERB1 readthrough [Gene]
NTAN1:N-terminal asparagine amidase [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]
RRN3:RRN3 homolog, RNA polymerase I transcription factor [Gene - OMIM - HGNC]
LOC121847973:Sharpr-MPRA regulatory region 10508 [Gene]
LOC112340381:Sharpr-MPRA regulatory region 12074 [Gene]
LOC112340379:Sharpr-MPRA regulatory region 1380 [Gene]
LOC112340378:Sharpr-MPRA regulatory region 13846 [Gene]
LOC112340377:Sharpr-MPRA regulatory region 1947 [Gene]
LOC125146418:Sharpr-MPRA regulatory region 4661 [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]
MIR1972-1:microRNA 1972-1 [Gene - HGNC]
MIR3180-4:microRNA 3180-4 [Gene - HGNC]
MIR484:microRNA 484 [Gene - HGNC]
MIR6506:microRNA 6506 [Gene - HGNC]
MIR6511B2:microRNA 6511b-2 [Gene - HGNC]
MYH11:myosin heavy chain 11 [Gene - OMIM - HGNC]
NPIPA5:nuclear pore complex interacting protein family member A5 [Gene - HGNC]
NDE1:nudE neurodevelopment protein 1 [Gene - OMIM - HGNC]
PDXDC1:pyridoxal dependent decarboxylase domain containing 1 [Gene - OMIM - HGNC]
LOC100505915:uncharacterized LOC100505915 [Gene]

Variant type:

copy number gain

Cytogenetic location:

16p13.11

Genomic location:

Preferred name:

GRCh38/hg38 16p13.11(chr16:14954875-16100718)x3

HGVS:

NC_000016.10:g.(?_14954875)_(16100718_?)dup
NC_000016.8:g.(?_14956233)_(16102076_?)dup
NC_000016.9:g.(?_15048732)_(16194575_?)dup

Links:

dbVar: nssv576120; dbVar: nsv492145

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000173525	ISCA site 4 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Uncertain significance (May 30, 2010)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000173525

ISCA site 4

See additional submitters

no assertion criteria provided

Uncertain significance
(May 30, 2010)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	yes	1	not provided	not provided	not provided	not provided	clinical 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 4, SCV000173525.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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