GRCh38/hg38 12p13.31(chr12:6098040-6355855)x3 AND See cases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 12, 2011
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000051955.4

Allele description [Variation Report for GRCh38/hg38 12p13.31(chr12:6098040-6355855)x3]

GRCh38/hg38 12p13.31(chr12:6098040-6355855)x3

Genes:

LOC130007226:ATAC-STARR-seq lymphoblastoid active region 5842 [Gene]
LOC130007230:ATAC-STARR-seq lymphoblastoid active region 5844 [Gene]
LOC130007231:ATAC-STARR-seq lymphoblastoid active region 5846 [Gene]
LOC130007232:ATAC-STARR-seq lymphoblastoid active region 5847 [Gene]
LOC130007233:ATAC-STARR-seq lymphoblastoid active region 5850 [Gene]
LOC130007227:ATAC-STARR-seq lymphoblastoid silent region 4157 [Gene]
LOC130007228:ATAC-STARR-seq lymphoblastoid silent region 4158 [Gene]
LOC130007229:ATAC-STARR-seq lymphoblastoid silent region 4159 [Gene]
CD9:CD9 molecule [Gene - OMIM - HGNC]
LOC126861432:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:6327115-6328314 [Gene]
LOC116268427:CRISPRi-validated cis-regulatory element chr12.283 [Gene]
LOC112163623:Sharpr-MPRA regulatory region 10601 [Gene]
LOC112163622:Sharpr-MPRA regulatory region 10655 [Gene]
LOC112163625:Sharpr-MPRA regulatory region 11848 [Gene]
LOC112163621:Sharpr-MPRA regulatory region 14257 [Gene]
LOC124625895:Sharpr-MPRA regulatory region 3368 [Gene]
LOC124625893:Sharpr-MPRA regulatory region 6202 [Gene]
TNFRSF1A:TNF receptor superfamily member 1A [Gene - OMIM - HGNC]
PLEKHG6:pleckstrin homology and RhoGEF domain containing G6 [Gene - OMIM - HGNC]
SCNN1A:sodium channel epithelial 1 subunit alpha [Gene - OMIM - HGNC]
VWF:von Willebrand factor [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

12p13.31

Genomic location:

Preferred name:

GRCh38/hg38 12p13.31(chr12:6098040-6355855)x3

HGVS:

NC_000012.12:g.(?_6098040)_(6355855_?)dup
NC_000012.10:g.(?_6077467)_(6335282_?)dup
NC_000012.11:g.(?_6207206)_(6465021_?)dup

Links:

dbVar: nssv580794; dbVar: nsv530668

Observations:

Condition(s)

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

Recent activity

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acetyl-coenzyme A transporter 1 isoform X6 [Homo sapiens]
acetyl-coenzyme A transporter 1 isoform X6 [Homo sapiens]
gi|2462593667|ref|XP_054204347.1|

Protein
acetyl-coenzyme A transporter 1 isoform X4 [Homo sapiens]
acetyl-coenzyme A transporter 1 isoform X4 [Homo sapiens]
gi|1034636386|ref|XP_016862952.1|

Protein
Burkholderia sp. N4b22_2 gene for 16S ribosomal RNA, partial sequence
Burkholderia sp. N4b22_2 gene for 16S ribosomal RNA, partial sequence
gi|1249614162|dbj|LC272182.1|

Nucleotide
LOC112163625 [Homo sapiens]
LOC112163625 [Homo sapiens]
Gene ID:112163625

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000079304	GeneDx	criteria provided, single submitter (Kaminsky et al. (Genet Med. 2011))	Uncertain significance (Aug 12, 2011)	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

SCV000079304

GeneDx

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))

Uncertain significance
(Aug 12, 2011)

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
not provided	not provided	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]

PMID:: 21844811
PMCID:: PMC3661946

Details of each submission

From GeneDx, SCV000079304.4

#	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	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Oct 14, 2023

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