GRCh38/hg38 1q42.13-42.2(chr1:230489657-231243203)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:: RCV000051560.4

Allele description [Variation Report for GRCh38/hg38 1q42.13-42.2(chr1:230489657-231243203)x3]

GRCh38/hg38 1q42.13-42.2(chr1:230489657-231243203)x3

Genes:

ARV1:ARV1 homolog, fatty acid homeostasis modulator [Gene - OMIM - HGNC]
LOC129932756:ATAC-STARR-seq lymphoblastoid active region 2719 [Gene]
LOC129932758:ATAC-STARR-seq lymphoblastoid active region 2720 [Gene]
LOC129932761:ATAC-STARR-seq lymphoblastoid active region 2721 [Gene]
LOC129932764:ATAC-STARR-seq lymphoblastoid active region 2722 [Gene]
LOC129932765:ATAC-STARR-seq lymphoblastoid active region 2723 [Gene]
LOC129932767:ATAC-STARR-seq lymphoblastoid active region 2725 [Gene]
LOC129932755:ATAC-STARR-seq lymphoblastoid silent region 1941 [Gene]
LOC129932757:ATAC-STARR-seq lymphoblastoid silent region 1942 [Gene]
LOC129932759:ATAC-STARR-seq lymphoblastoid silent region 1944 [Gene]
LOC129932760:ATAC-STARR-seq lymphoblastoid silent region 1945 [Gene]
LOC129932762:ATAC-STARR-seq lymphoblastoid silent region 1947 [Gene]
LOC129932763:ATAC-STARR-seq lymphoblastoid silent region 1948 [Gene]
LOC129932766:ATAC-STARR-seq lymphoblastoid silent region 1949 [Gene]
LOC115804249:CRISPRi-validated cis-regulatory element chr1.12443 [Gene]
LOC115804250:CRISPRi-validated cis-regulatory element chr1.12444 [Gene]
LOC115804251:CRISPRi-validated cis-regulatory element chr1.12445 [Gene]
LOC115804252:CRISPRi-validated cis-regulatory element chr1.12446 [Gene]
LOC126806042:MED14-independent group 3 enhancer GRCh37_chr1:230990988-230992187 [Gene]
LOC129388775:MPRA-validated peak762 silencer [Gene]
LOC122152334:Sharpr-MPRA regulatory region 2465 [Gene]
LOC122152333:Sharpr-MPRA regulatory region 2982 [Gene]
LOC122152335:Sharpr-MPRA regulatory region 4964 [Gene]
TRIM67-AS1:TRIM67 antisense RNA 1 [Gene - HGNC]
LOC110121205:VISTA enhancer hs1766 [Gene]
LOC110121263:VISTA enhancer hs2133 [Gene]
AGT:angiotensinogen [Gene - OMIM - HGNC]
CAPN9:calpain 9 [Gene - OMIM - HGNC]
C1orf131:chromosome 1 open reading frame 131 [Gene - HGNC]
C1orf198:chromosome 1 open reading frame 198 [Gene - HGNC]
COG2:component of oligomeric golgi complex 2 [Gene - OMIM - HGNC]
FAM89A:family with sequence similarity 89 member A [Gene - HGNC]
GNPAT:glyceronephosphate O-acyltransferase [Gene - OMIM - HGNC]
LINC01737:long intergenic non-protein coding RNA 1737 [Gene - HGNC]
MIR1182:microRNA 1182 [Gene - HGNC]
TTC13:tetratricopeptide repeat domain 13 [Gene - HGNC]
TRIM67:tripartite motif containing 67 [Gene - OMIM - HGNC]
LOC101927604:uncharacterized LOC101927604 [Gene]

Variant type:

copy number gain

Cytogenetic location:

1q42.13-42.2

Genomic location:

Preferred name:

GRCh38/hg38 1q42.13-42.2(chr1:230489657-231243203)x3

HGVS:

NC_000001.11:g.(?_230489657)_(231243203_?)dup
NC_000001.10:g.(?_230625403)_(231378949_?)dup
NC_000001.9:g.(?_228692026)_(229445572_?)dup

Links:

dbVar: nssv580726; dbVar: nsv530083

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
SCV000078908	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

SCV000078908

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, SCV000078908.4

#	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

ClinVar

Relating variation to medicine