GRCh38/hg38 16p12.2(chr16:21919927-22420036)x1 AND See cases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 12, 2015
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:: RCV000143465.7

Allele description [Variation Report for GRCh38/hg38 16p12.2(chr16:21919927-22420036)x1]

GRCh38/hg38 16p12.2(chr16:21919927-22420036)x1

Genes:

LOC130058628:ATAC-STARR-seq lymphoblastoid active region 10562 [Gene]
LOC130058629:ATAC-STARR-seq lymphoblastoid active region 10565 [Gene]
LOC130058632:ATAC-STARR-seq lymphoblastoid active region 10566 [Gene]
LOC130058634:ATAC-STARR-seq lymphoblastoid active region 10567 [Gene]
LOC130058635:ATAC-STARR-seq lymphoblastoid active region 10568 [Gene]
LOC130058636:ATAC-STARR-seq lymphoblastoid active region 10569 [Gene]
LOC130058640:ATAC-STARR-seq lymphoblastoid active region 10570 [Gene]
LOC130058642:ATAC-STARR-seq lymphoblastoid active region 10571 [Gene]
LOC130058645:ATAC-STARR-seq lymphoblastoid active region 10572 [Gene]
LOC130058646:ATAC-STARR-seq lymphoblastoid active region 10573 [Gene]
LOC130058630:ATAC-STARR-seq lymphoblastoid silent region 7258 [Gene]
LOC130058631:ATAC-STARR-seq lymphoblastoid silent region 7259 [Gene]
LOC130058633:ATAC-STARR-seq lymphoblastoid silent region 7260 [Gene]
LOC130058637:ATAC-STARR-seq lymphoblastoid silent region 7263 [Gene]
LOC130058638:ATAC-STARR-seq lymphoblastoid silent region 7264 [Gene]
LOC130058639:ATAC-STARR-seq lymphoblastoid silent region 7265 [Gene]
LOC130058641:ATAC-STARR-seq lymphoblastoid silent region 7267 [Gene]
LOC130058643:ATAC-STARR-seq lymphoblastoid silent region 7268 [Gene]
LOC130058644:ATAC-STARR-seq lymphoblastoid silent region 7269 [Gene]
CDR2-DT:CDR2 divergent transcript [Gene - HGNC]
LOC111562378:GATA motif-containing MPRA enhancer 198 [Gene]
LOC126862313:MED14-independent group 3 enhancer GRCh37_chr16:22037440-22038639 [Gene]
LOC132090373:Neanderthal introgressed variant-containing enhancer experimental_43156 [Gene]
PDZD9:PDZ domain containing 9 [Gene - HGNC]
POLR3E:RNA polymerase III subunit E [Gene - OMIM - HGNC]
LOC125146427:Sharpr-MPRA regulatory region 14412 [Gene]
LOC125146428:Sharpr-MPRA regulatory region 3906 [Gene]
LOC121587534:Sharpr-MPRA regulatory region 4253 [Gene]
CDR2:cerebellar degeneration related protein 2 [Gene - OMIM - HGNC]
EEF2K:eukaryotic elongation factor 2 kinase [Gene - OMIM - HGNC]
MOSMO:modulator of smoothened [Gene - HGNC]
SDR42E2:short chain dehydrogenase/reductase family 42E, member 2 [Gene - HGNC]
TRL-AAG2-4:tRNA-Leu (anticodon AAG) 2-4 [Gene - HGNC]
TRL-TAG3-1:tRNA-Leu (anticodon TAG) 3-1 [Gene - HGNC]
UQCRC2:ubiquinol-cytochrome c reductase core protein 2 [Gene - OMIM - HGNC]
LOC105371129:uncharacterized LOC105371129 [Gene]
VWA3A:von Willebrand factor A domain containing 3A [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

16p12.2

Genomic location:

Preferred name:

GRCh38/hg38 16p12.2(chr16:21919927-22420036)x1

HGVS:

NC_000016.10:g.(?_21919927)_(22420036_?)del
NC_000016.8:g.(?_21838749)_(22338858_?)del
NC_000016.9:g.(?_21931248)_(22431357_?)del

Links:

dbVar: nssv13653777; dbVar: nssv3397028; dbVar: nsv995445

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
SCV000182869	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Uncertain significance (Jan 12, 2015)	paternal, 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

SCV000182869

ISCA site 1

See additional submitters

no assertion criteria provided

Uncertain significance
(Jan 12, 2015)

paternal, 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
not provided	paternal	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 1, SCV000182869.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)
2	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	paternal	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
2	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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