GRCh38/hg38 17q21.31-21.33(chr17:44955325-49381173)x3 AND See cases

delete

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:: RCV000052480.4

Allele description

GRCh38/hg38 17q21.31-21.33(chr17:44955325-49381173)x3

Genes:

ABI3:ABI family member 3 [Gene - OMIM - HGNC]
ARL17A:ADP ribosylation factor like GTPase 17A [Gene - HGNC]
ARL17B:ADP ribosylation factor like GTPase 17B [Gene - HGNC]
ATP5G1:ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9) [Gene - OMIM - HGNC]
CDK5RAP3:CDK5 regulatory subunit associated protein 3 [Gene - OMIM - HGNC]
EFCAB13:EF-hand calcium binding domain 13 [Gene - HGNC]
GNGT2:G protein subunit gamma transducin 2 [Gene - OMIM - HGNC]
HOXB-AS1:HOXB cluster antisense RNA 1 [Gene - HGNC]
HOXB-AS3:HOXB cluster antisense RNA 3 [Gene - HGNC]
KANSL1-AS1:KANSL1 antisense RNA 1 [Gene - HGNC]
KANSL1:KAT8 regulatory NSL complex subunit 1 [Gene - OMIM - HGNC]
LINC02210-CRHR1:LINC02210-CRHR1 readthrough [Gene - HGNC]
MAP3K14-AS1:MAP3K14 antisense RNA 1 [Gene - HGNC]
MAPT-AS1:MAPT antisense RNA 1 [Gene - HGNC]
MAPT-IT1:MAPT intronic transcript 1 [Gene - HGNC]
NSF:N-ethylmaleimide sensitive factor, vesicle fusing ATPase [Gene - OMIM - HGNC]
NMT1:N-myristoyltransferase 1 [Gene - OMIM - HGNC]
PRAC1:PRAC1 small nuclear protein [Gene - OMIM - HGNC]
ARHGAP27:Rho GTPase activating protein 27 [Gene - OMIM - HGNC]
SNF8:SNF8, ESCRT-II complex subunit [Gene - OMIM - HGNC]
SP2-AS1:SP2 antisense RNA 1 [Gene - HGNC]
SP2:Sp2 transcription factor [Gene - OMIM - HGNC]
SP6:Sp6 transcription factor [Gene - OMIM - HGNC]
TBX21:T-box 21 [Gene - OMIM - HGNC]
TBKBP1:TBK1 binding protein 1 [Gene - OMIM - HGNC]
WNT3:Wnt family member 3 [Gene - OMIM - HGNC]
WNT9B:Wnt family member 9B [Gene - OMIM - HGNC]
ACBD4:acyl-CoA binding domain containing 4 [Gene - HGNC]
NPEPPS:aminopeptidase puromycin sensitive [Gene - OMIM - HGNC]
B4GALNT2:beta-1,4-N-acetyl-galactosaminyltransferase 2 [Gene - OMIM - HGNC]
CALCOCO2:calcium binding and coiled-coil domain 2 [Gene - OMIM - HGNC]
CDC27:cell division cycle 27 [Gene - OMIM - HGNC]
CBX1:chromobox 1 [Gene - OMIM - HGNC]
COPZ2:coatomer protein complex subunit zeta 2 [Gene - OMIM - HGNC]
C1QL1:complement C1q like 1 [Gene - OMIM - HGNC]
CRHR1:corticotropin releasing hormone receptor 1 [Gene - OMIM - HGNC]
DCAKD:dephospho-CoA kinase domain containing [Gene - HGNC]
FMNL1:formin like 1 [Gene - OMIM - HGNC]
GIP:gastric inhibitory polypeptide [Gene - OMIM - HGNC]
GOSR2:golgi SNAP receptor complex member 2 [Gene - OMIM - HGNC]
HEXIM1:hexamethylene bisacetamide inducible 1 [Gene - OMIM - HGNC]
HEXIM2:hexamethylene bisacetamide inducible 2 [Gene - OMIM - HGNC]
HOXB13:homeobox B13 [Gene - OMIM - HGNC]
HOXB1:homeobox B1 [Gene - OMIM - HGNC]
HOXB2:homeobox B2 [Gene - OMIM - HGNC]
HOXB3:homeobox B3 [Gene - OMIM - HGNC]
HOXB4:homeobox B4 [Gene - OMIM - HGNC]
HOXB5:homeobox B5 [Gene - OMIM - HGNC]
HOXB6:homeobox B6 [Gene - OMIM - HGNC]
HOXB7:homeobox B7 [Gene - OMIM - HGNC]
HOXB8:homeobox B8 [Gene - OMIM - HGNC]
HOXB9:homeobox B9 [Gene - OMIM - HGNC]
IGF2BP1:insulin like growth factor 2 mRNA binding protein 1 [Gene - OMIM - HGNC]
ITGB3:integrin subunit beta 3 [Gene - OMIM - HGNC]
KPNB1:karyopherin subunit beta 1 [Gene - OMIM - HGNC]
LRRC37A2:leucine rich repeat containing 37 member A2 [Gene - OMIM - HGNC]
LRRC37A:leucine rich repeat containing 37A [Gene - OMIM - HGNC]
LRRC46:leucine rich repeat containing 46 [Gene - HGNC]
LINC01974:long intergenic non-protein coding RNA 1974 [Gene - HGNC]
LINC02086:long intergenic non-protein coding RNA 2086 [Gene - HGNC]
LINC02210:long intergenic non-protein coding RNA 2210 [Gene - HGNC]
MIR10A:microRNA 10a [Gene - OMIM - HGNC]
MIR1203:microRNA 1203 [Gene - HGNC]
MIR152:microRNA 152 [Gene - OMIM - HGNC]
MIR196A1:microRNA 196a-1 [Gene - OMIM - HGNC]
MIR3185:microRNA 3185 [Gene - HGNC]
MIR4315-1:microRNA 4315-1 [Gene - HGNC]
MIR5089:microRNA 5089 [Gene - HGNC]
MIR6129:microRNA 6129 [Gene - HGNC]
MIR6784:microRNA 6784 [Gene - HGNC]
MAPT:microtubule associated protein tau [Gene - OMIM - HGNC]
MRPL10:mitochondrial ribosomal protein L10 [Gene - OMIM - HGNC]
MAP3K14:mitogen-activated protein kinase kinase kinase 14 [Gene - OMIM - HGNC]
MYL4:myosin light chain 4 [Gene - OMIM - HGNC]
NFE2L1:nuclear factor, erythroid 2 like 1 [Gene - OMIM - HGNC]
OSBPL7:oxysterol binding protein like 7 [Gene - OMIM - HGNC]
PHOSPHO1:phosphoethanolamine/phosphocholine phosphatase [Gene - HGNC]
PLCD3:phospholipase C delta 3 [Gene - OMIM - HGNC]
PLEKHM1:pleckstrin homology and RUN domain containing M1 [Gene - OMIM - HGNC]
PRR15L:proline rich 15 like [Gene - HGNC]
PRAC2:prostate cancer susceptibility candidate 2 [Gene - OMIM - HGNC]
PNPO:pyridoxamine 5'-phosphate oxidase [Gene - OMIM - HGNC]
RPRML:reprimo like [Gene - HGNC]
STH:saitohin [Gene - OMIM - HGNC]
SCRN2:secernin 2 [Gene - OMIM - HGNC]
SPPL2C:signal peptide peptidase like 2C [Gene - OMIM - HGNC]
SNX11:sorting nexin 11 [Gene - OMIM - HGNC]
SPATA32:spermatogenesis associated 32 [Gene - HGNC]
SKAP1:src kinase associated phosphoprotein 1 [Gene - OMIM - HGNC]
THCAT158:thyroid cancer-associated transcript 158 [Gene]
TRQ-TTG1-1:transfer RNA-Gln (TTG) 1-1 [Gene - OMIM - HGNC]
TTLL6:tubulin tyrosine ligase like 6 [Gene - OMIM - HGNC]
UBE2Z:ubiquitin conjugating enzyme E2 Z [Gene - OMIM - HGNC]
FLJ40194:uncharacterized FLJ40194 [Gene]
LOC101927166:uncharacterized LOC101927166 [Gene]
LOC102724532:uncharacterized LOC102724532 [Gene]
LOC102724596:uncharacterized LOC102724596 [Gene]
LOC105371795:uncharacterized LOC105371795 [Gene]
THRA1/BTR:uncharacterized LOC105371807 [Gene]
LOC105371814:uncharacterized LOC105371814 [Gene]
LOC339192:uncharacterized LOC339192 [Gene]
ZNF652:zinc finger protein 652 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

17q21.31-21.33

Genomic location:

Preferred name:

GRCh38/hg38 17q21.31-21.33(chr17:44955325-49381173)x3

HGVS:

NC_000017.11:g.(?_44955325)_(49381173_?)dup
NC_000017.10:g.(?_43032693)_(47458535_?)dup
NC_000017.9:g.(?_40388219)_(44813534_?)dup

Links:

dbVar: nssv578743; dbVar: nsv531186

Observations:

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Homo sapiens SNF8 subunit of ESCRT-II (SNF8), transcript variant 3, mRNA
Homo sapiens SNF8 subunit of ESCRT-II (SNF8), transcript variant 3, mRNA
gi|1676332814|ref|NM_001317193.2|

Nucleotide
NRN1L [Papio anubis]
NRN1L [Papio anubis]
Gene ID:116268604

Gene
RecName: Full=Vacuolar-sorting protein SNF8; AltName: Full=ELL-associated protei...
RecName: Full=Vacuolar-sorting protein SNF8; AltName: Full=ELL-associated protein of 30 kDa; AltName: Full=ESCRT-II complex subunit VPS22; Short=hVps22
gi|73919323|sp|Q96H20.1|SNF8_HUMAN

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000079834	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	criteria provided, single submitter (Submitter's publication)	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

SCV000079834

ISCA site 1

See additional submitters

criteria provided, single submitter

(Submitter's publication)

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 1, SCV000079834.4

#	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: Jul 15, 2017

ClinVar

Relating variation to medicine