GRCh38/hg38 3q12.3(chr3:101596165-102374145)x3 AND See cases

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jul 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:: RCV000134705.5

Allele description [Variation Report for GRCh38/hg38 3q12.3(chr3:101596165-102374145)x3]

GRCh38/hg38 3q12.3(chr3:101596165-102374145)x3

Genes:

LOC129937157:ATAC-STARR-seq lymphoblastoid active region 20172 [Gene]
LOC129937158:ATAC-STARR-seq lymphoblastoid active region 20173 [Gene]
LOC129937159:ATAC-STARR-seq lymphoblastoid active region 20176 [Gene]
LOC129937160:ATAC-STARR-seq lymphoblastoid active region 20177 [Gene]
LOC129937161:ATAC-STARR-seq lymphoblastoid active region 20178 [Gene]
LOC129937162:ATAC-STARR-seq lymphoblastoid active region 20179 [Gene]
LOC129937163:ATAC-STARR-seq lymphoblastoid active region 20180 [Gene]
LOC129937165:ATAC-STARR-seq lymphoblastoid active region 20181 [Gene]
LOC129937166:ATAC-STARR-seq lymphoblastoid active region 20182 [Gene]
LOC129937167:ATAC-STARR-seq lymphoblastoid active region 20183 [Gene]
LOC129937168:ATAC-STARR-seq lymphoblastoid active region 20184 [Gene]
LOC129937169:ATAC-STARR-seq lymphoblastoid active region 20185 [Gene]
LOC129937170:ATAC-STARR-seq lymphoblastoid active region 20186 [Gene]
LOC129937171:ATAC-STARR-seq lymphoblastoid active region 20187 [Gene]
LOC129937172:ATAC-STARR-seq lymphoblastoid active region 20188 [Gene]
LOC129937164:ATAC-STARR-seq lymphoblastoid silent region 14578 [Gene]
LOC126806751:BRD4-independent group 4 enhancer GRCh37_chr3:101405139-101406338 [Gene]
LOC126806753:MED14-independent group 3 enhancer GRCh37_chr3:101913549-101914748 [Gene]
LOC126806754:MED14-independent group 3 enhancer GRCh37_chr3:102017651-102018850 [Gene]
LOC129389106:MPRA-validated peak4754 silencer [Gene]
NFKBIZ:NFKB inhibitor zeta [Gene - OMIM - HGNC]
LOC126806752:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:101421445-101422644 [Gene]
RDUR:RIG-I dependent antiviral response regulator RNA [Gene - HGNC]
LOC123002322:Sharpr-MPRA regulatory region 1067 [Gene]
LOC112841610:Sharpr-MPRA regulatory region 11 [Gene]
LOC112841611:Sharpr-MPRA regulatory region 7874 [Gene]
ZBTB11-AS1:ZBTB11 antisense RNA 1 [Gene - HGNC]
CEP97:centrosomal protein 97 [Gene - OMIM - HGNC]
NXPE3:neurexophilin and PC-esterase domain family member 3 [Gene - HGNC]
RPL24:ribosomal protein L24 [Gene - OMIM - HGNC]
LOC101929411:uncharacterized LOC101929411 [Gene]
ZBTB11:zinc finger and BTB domain containing 11 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

3q12.3

Genomic location:

Preferred name:

GRCh38/hg38 3q12.3(chr3:101596165-102374145)x3

HGVS:

NC_000003.12:g.(?_101596165)_(102374145_?)dup
NC_000003.10:g.(?_102797699)_(103575679_?)dup
NC_000003.11:g.(?_101315009)_(102092989_?)dup

Links:

dbVar: nssv583776; dbVar: nsv497784

Observations:

Condition(s)

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

Recent activity

Clear Turn Off Turn On

beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransfe...
beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase isoform X1 [Homo sapiens]
gi|2462624194|ref|XP_054218708.1|

Protein
Mus musculus Hbs1-like (S. cerevisiae) (Hbs1l), transcript variant 6, mRNA
Mus musculus Hbs1-like (S. cerevisiae) (Hbs1l), transcript variant 6, mRNA
gi|2716983365|ref|NM_001429214.1|

Nucleotide
Laryngeal Nerve Paralysis
Laryngeal Nerve Paralysis

MedGen
Child Behavior Disorders
Child Behavior Disorders

MedGen

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000174277	ISCA site 4 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Likely benign (Jul 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

SCV000174277

ISCA site 4

See additional submitters

no assertion criteria provided

Likely benign
(Jul 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, SCV000174277.3

#	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

ClinVar

Relating variation to medicine