GRCh37/hg19 1q21.1-21.2(chr1:143721526-149232481)x1 AND See cases

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

Germline classification:: Pathogenic (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:: RCV000053700.4

Allele description

GRCh37/hg19 1q21.1-21.2(chr1:143721526-149232481)x1

Genes:

BCL9:BCL9 transcription coactivator [Gene - OMIM - HGNC]
CD160:CD160 molecule [Gene - OMIM - HGNC]
GPR89A:G protein-coupled receptor 89A [Gene - OMIM - HGNC]
GPR89B:G protein-coupled receptor 89B [Gene - OMIM - HGNC]
NBPF10:NBPF member 10 [Gene - OMIM - HGNC]
NBPF11:NBPF member 11 [Gene - OMIM - HGNC]
NBPF12:NBPF member 12 [Gene - OMIM - HGNC]
NBPF15:NBPF member 15 [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]
ACP6:acid phosphatase 6, lysophosphatidic [Gene - OMIM - HGNC]
ANKRD34A:ankyrin repeat domain 34A [Gene - HGNC]
ANKRD35:ankyrin repeat domain 35 [Gene - HGNC]
CHD1L:chromodomain helicase DNA binding protein 1 like [Gene - OMIM - HGNC]
FAM72D:family with sequence similarity 72 member D [Gene - OMIM - HGNC]
FMO5:flavin containing dimethylaniline monoxygenase 5 [Gene - OMIM - HGNC]
GJA5:gap junction protein alpha 5 [Gene - OMIM - HGNC]
GJA8:gap junction protein alpha 8 [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]
PPIAL4D:peptidylprolyl isomerase A like 4D [Gene - HGNC]
PPIAL4E:peptidylprolyl isomerase A like 4E [Gene - OMIM - HGNC]
PPIAL4F:peptidylprolyl isomerase A like 4F [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]
PRKAB2:protein kinase AMP-activated non-catalytic subunit beta 2 [Gene - OMIM - HGNC]
RNF115:ring finger protein 115 [Gene - OMIM - HGNC]
TRN-GTT2-7:tRNA-Asn (anticodon GTT) 2-7 [Gene - OMIM - HGNC]
TRH-GTG2-1:tRNA-His (GTG) 2-1 [Gene - HGNC]
TXNIP:thioredoxin interacting protein [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

1q21.1-21.2

Genomic location:

Preferred name:

GRCh37/hg19 1q21.1-21.2(chr1:143721526-149232481)x1

HGVS:

NC_000001.10:g.(?_143721526)_(149232481_?)del
NC_000001.9:g.(?_142513049)_(147499105_?)del

Links:

dbVar: nssv579590; dbVar: nsv532362

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
SCV000081063	ISCA site 17 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	criteria provided, single submitter (Kaminsky et al. (Genet Med. 2011))	Pathogenic (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

SCV000081063

ISCA site 17

See additional submitters

criteria provided, single submitter

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

Pathogenic
(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 ISCA site 17, SCV000081063.4

#	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: Mar 26, 2023

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