GRCh37/hg19 1q21.1(chr1:143646638-146126442)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:: RCV000053578.5

Allele description [Variation Report for GRCh37/hg19 1q21.1(chr1:143646638-146126442)x3]

GRCh37/hg19 1q21.1(chr1:143646638-146126442)x3

Genes:

CD160:CD160 molecule [Gene - OMIM - HGNC]
GPR89A:G protein-coupled receptor 89A [Gene - OMIM - HGNC]
NBPF10:NBPF member 10 [Gene - OMIM - HGNC]
NBPF11:NBPF member 11 [Gene - OMIM - HGNC]
NBPF8:NBPF member 8 [Gene - OMIM - HGNC]
NBPF9:NBPF member 9 [Gene - OMIM - HGNC]
PDZK1:PDZ domain containing 1 [Gene - OMIM - HGNC]
RBM8A:RNA binding motif protein 8A [Gene - OMIM - HGNC]
POLR3C:RNA polymerase III subunit C [Gene - OMIM - HGNC]
POLR3GL:RNA polymerase III subunit GL [Gene - OMIM - HGNC]
SRGAP2B:SLIT-ROBO Rho GTPase activating protein 2B [Gene - OMIM - HGNC]
ANKRD34A:ankyrin repeat domain 34A [Gene - HGNC]
ANKRD35:ankyrin repeat domain 35 [Gene - HGNC]
FAM72D:family with sequence similarity 72 member D [Gene - OMIM - HGNC]
HJV:hemojuvelin BMP co-receptor [Gene - OMIM - HGNC]
ITGA10:integrin subunit alpha 10 [Gene - OMIM - HGNC]
LIX1L:limb and CNS expressed 1 like [Gene - HGNC]
NOTCH2NLA:notch 2 N-terminal like A [Gene - OMIM - HGNC]
NUDT17:nudix hydrolase 17 [Gene - HGNC]
PPIAL4A:peptidylprolyl isomerase A like 4A [Gene - HGNC]
PPIAL4G:peptidylprolyl isomerase A like 4G [Gene - HGNC]
PEX11B:peroxisomal biogenesis factor 11 beta [Gene - OMIM - HGNC]
PDE4DIP:phosphodiesterase 4D interacting protein [Gene - OMIM - HGNC]
PIAS3:protein inhibitor of activated STAT 3 [Gene - OMIM - HGNC]
RNF115:ring finger protein 115 [Gene - OMIM - HGNC]
TXNIP:thioredoxin interacting protein [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

1q21.1

Genomic location:

Preferred name:

GRCh37/hg19 1q21.1(chr1:143646638-146126442)x3

HGVS:

NC_000001.10:g.(?_143646638)_(146126442_?)dup
NC_000001.9:g.(?_142438161)_(144837799_?)dup

Links:

dbVar: nssv579409; dbVar: nsv532246

Observations:

Condition(s)

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

Recent activity

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Mus musculus adult male aorta and vein cDNA, RIKEN full-length enriched library,...
Mus musculus adult male aorta and vein cDNA, RIKEN full-length enriched library, clone:A530024C08 product:inferred: BREFELDIN A-INHIBITED GUANINE NUCLEOTIDE-EXCHANGE PROTEIN 1 (BREFELDIN A-INHIBITED GEP 1) (P200 ARF-, full insert sequence
gi|26088054|dbj|AK040772.1|

Nucleotide
Lerista alia voucher QMJ94312 NADH dehydrogenase subunit 4 (ND4) gene, partial c...
Lerista alia voucher QMJ94312 NADH dehydrogenase subunit 4 (ND4) gene, partial cds; tRNA-His and tRNA-Ser genes, complete sequence; and tRNA-Leu gene, partial sequence; mitochondrial
gi|1482033281|gb|MH643578.1|

Nucleotide
Ichthyophthirius multifiliis myosin head, putative (IMG5_023530) mRNA, complete ...
Ichthyophthirius multifiliis myosin head, putative (IMG5_023530) mRNA, complete cds
gi|471234953|ref|XM_004039385.1|

Nucleotide
BBSome complex member BBS4 isoform 1 [Mus musculus]
BBSome complex member BBS4 isoform 1 [Mus musculus]
gi|29789423|ref|NP_780534.1|

Protein
Introduction - Utility of Blood Pressure Monitoring Outside of the Clinic Settin...
Introduction - Utility of Blood Pressure Monitoring Outside of the Clinic Setting

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000080939	GeneDx	criteria provided, single submitter (Kaminsky et al. (Genet Med. 2011))	Uncertain significance (Aug 12, 2011)	maternal	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

SCV000080939

GeneDx

criteria provided, single submitter

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

Uncertain significance
(Aug 12, 2011)

maternal

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	maternal	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, SCV000080939.5

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

Last Updated: Mar 26, 2023

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