GRCh38/hg38 3p14.1(chr3:65485083-67218667)x3 AND See cases

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 28, 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:: RCV000140759.4

Allele description

GRCh38/hg38 3p14.1(chr3:65485083-67218667)x3

Genes:

LOC129936985:ATAC-STARR-seq lymphoblastoid active region 20037 [Gene]
LOC129936986:ATAC-STARR-seq lymphoblastoid active region 20038 [Gene]
LOC129936987:ATAC-STARR-seq lymphoblastoid active region 20039 [Gene]
LOC129936988:ATAC-STARR-seq lymphoblastoid active region 20040 [Gene]
LOC129936989:ATAC-STARR-seq lymphoblastoid active region 20041 [Gene]
LOC129936990:ATAC-STARR-seq lymphoblastoid active region 20042 [Gene]
LOC129936991:ATAC-STARR-seq lymphoblastoid active region 20043 [Gene]
LOC129936993:ATAC-STARR-seq lymphoblastoid active region 20044 [Gene]
LOC129936994:ATAC-STARR-seq lymphoblastoid active region 20045 [Gene]
LOC129936996:ATAC-STARR-seq lymphoblastoid active region 20046 [Gene]
LOC129936997:ATAC-STARR-seq lymphoblastoid active region 20047 [Gene]
LOC129936984:ATAC-STARR-seq lymphoblastoid silent region 14503 [Gene]
LOC129936992:ATAC-STARR-seq lymphoblastoid silent region 14504 [Gene]
LOC129936995:ATAC-STARR-seq lymphoblastoid silent region 14509 [Gene]
LOC129936998:ATAC-STARR-seq lymphoblastoid silent region 14510 [Gene]
LOC129936999:ATAC-STARR-seq lymphoblastoid silent region 14511 [Gene]
LOC111562376:HNF4 motif-containing MPRA enhancer 188 [Gene]
MAGI1-AS1:MAGI1 antisense RNA 1 [Gene - HGNC]
MAGI1-IT1:MAGI1 intronic transcript 1 [Gene - HGNC]
LOC126806706:MED14-independent group 3 enhancer GRCh37_chr3:66604132-66605331 [Gene]
LOC126806707:MED14-independent group 3 enhancer GRCh37_chr3:67133372-67134571 [Gene]
LOC132088978:Neanderthal introgressed variant-containing enhancer experimental_70957 [Gene]
LOC126806705:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:65949459-65950658 [Gene]
LOC123000071:Sharpr-MPRA regulatory region 1089 [Gene]
LOC123000068:Sharpr-MPRA regulatory region 14829 [Gene]
LOC123000067:Sharpr-MPRA regulatory region 7664 [Gene]
LOC123000070:Sharpr-MPRA regulatory region 8313 [Gene]
LOC123000069:Sharpr-MPRA regulatory region 976 [Gene]
KBTBD8:kelch repeat and BTB domain containing 8 [Gene - OMIM - HGNC]
LRIG1:leucine rich repeats and immunoglobulin like domains 1 [Gene - OMIM - HGNC]
MAGI1:membrane associated guanylate kinase, WW and PDZ domain containing 1 [Gene - OMIM - HGNC]
SLC25A26:solute carrier family 25 member 26 [Gene - OMIM - HGNC]
LOC105377143:uncharacterized LOC105377143 [Gene]

Variant type:

copy number gain

Cytogenetic location:

3p14.1

Genomic location:

Preferred name:

GRCh38/hg38 3p14.1(chr3:65485083-67218667)x3

HGVS:

NC_000003.12:g.(?_65485083)_(67218667_?)dup
NC_000003.10:g.(?_65445798)_(67351781_?)dup
NC_000003.11:g.(?_65470758)_(67269091_?)dup

Links:

dbVar: nssv1610214; dbVar: nsv932032

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
SCV000181516	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Uncertain significance (Jan 28, 2013)	not provided	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

SCV000181516

ISCA site 1

See additional submitters

no assertion criteria provided

Uncertain significance
(Jan 28, 2013)

not provided

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
human	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 1, SCV000181516.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	human	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	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Oct 14, 2023

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