GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670) AND not specified

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 2022
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:: RCV002053827.3

Allele description [Variation Report for GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670)]

GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670)

Genes:

HACD4:3-hydroxyacyl-CoA dehydratase 4 [Gene - OMIM - HGNC]
ADAMTSL1:ADAMTS like 1 [Gene - OMIM - HGNC]
BAG1:BAG cochaperone 1 [Gene - OMIM - HGNC]
C9orf72:C9orf72-SMCR8 complex subunit [Gene - OMIM - HGNC]
CD274:CD274 molecule [Gene - OMIM - HGNC]
CDKN2B-AS1:CDKN2B antisense RNA 1 [Gene - OMIM - HGNC]
DENND4C:DENN domain containing 4C [Gene - HGNC]
DMRTA1:DMRT like family A1 [Gene - OMIM - HGNC]
DNAJA1:DnaJ heat shock protein family (Hsp40) member A1 [Gene - OMIM - HGNC]
ELAVL2:ELAV like RNA binding protein 2 [Gene - OMIM - HGNC]
FREM1:FRAS1 related extracellular matrix 1 [Gene - OMIM - HGNC]
GLIS3:GLIS family zinc finger 3 [Gene - OMIM - HGNC]
HAUS6:HAUS augmin like complex subunit 6 [Gene - OMIM - HGNC]
IZUMO3:IZUMO family member 3 [Gene - OMIM - HGNC]
JAK2:Janus kinase 2 [Gene - OMIM - HGNC]
KANK1:KN motif and ankyrin repeat domains 1 [Gene - OMIM - HGNC]
MLLT3:MLLT3 super elongation complex subunit [Gene - OMIM - HGNC]
MOB3B:MOB kinase activator 3B [Gene - OMIM - HGNC]
NDUFB6:NADH:ubiquinone oxidoreductase subunit B6 [Gene - OMIM - HGNC]
PSIP1:PC4 and SRSF1 interacting protein 1 [Gene - OMIM - HGNC]
RANBP6:RAN binding protein 6 [Gene - HGNC]
RIC1:RIC1 homolog, RAB6A GEF complex partner 1 [Gene - OMIM - HGNC]
RIGI:RNA sensor RIG-I [Gene - OMIM - HGNC]
RCL1:RNA terminal phosphate cyclase like 1 [Gene - OMIM - HGNC]
RRAGA:Ras related GTP binding A [Gene - OMIM - HGNC]
SH3GL2:SH3 domain containing GRB2 like 2, endophilin A1 [Gene - OMIM - HGNC]
SMU1:SMU1 DNA replication regulator and spliceosomal factor [Gene - OMIM - HGNC]
SMARCA2:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 [Gene - OMIM - HGNC]
TAF1L:TATA-box binding protein associated factor 1 like [Gene - OMIM - HGNC]
TEK:TEK receptor tyrosine kinase [Gene - OMIM - HGNC]
TOPORS:TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase [Gene - OMIM - HGNC]
TPD52L3:TPD52 like 3 [Gene - OMIM - HGNC]
ACO1:aconitase 1 [Gene - OMIM - HGNC]
AK3:adenylate kinase 3 [Gene - OMIM - HGNC]
ACER2:alkaline ceramidase 2 [Gene - OMIM - HGNC]
ANKRD18B:ankyrin repeat domain 18B [Gene - OMIM - HGNC]
APTX:aprataxin [Gene - OMIM - HGNC]
AQP3:aquaporin 3 (Gill blood group) [Gene - OMIM - HGNC]
AQP7:aquaporin 7 [Gene - OMIM - HGNC]
BNC2:basonuclin zinc finger protein 2 [Gene - OMIM - HGNC]
B4GALT1:beta-1,4-galactosyltransferase 1 [Gene - OMIM - HGNC]
BRD10:bromodomain containing 10 [Gene - HGNC]
CAAP1:caspase activity and apoptosis inhibitor 1 [Gene - HGNC]
CDC37L1:cell division cycle 37 like 1, HSP90 cochaperone [Gene - OMIM - HGNC]
CNTLN:centlein [Gene - OMIM - HGNC]
CER1:cerberus 1, DAN family BMP antagonist [Gene - OMIM - HGNC]
CHMP5:charged multivesicular body protein 5 [Gene - OMIM - HGNC]
CCDC171:coiled-coil domain containing 171 [Gene - HGNC]
CDKN2A:cyclin dependent kinase inhibitor 2A [Gene - OMIM - HGNC]
CDKN2B:cyclin dependent kinase inhibitor 2B [Gene - OMIM - HGNC]
DMAC1:distal membrane arm assembly component 1 [Gene - OMIM - HGNC]
DMRT1:doublesex and mab-3 related transcription factor 1 [Gene - OMIM - HGNC]
DMRT2:doublesex and mab-3 related transcription factor 2 [Gene - OMIM - HGNC]
DMRT3:doublesex and mab-3 related transcription factor 3 [Gene - OMIM - HGNC]
ERMP1:endoplasmic reticulum metallopeptidase 1 [Gene - OMIM - HGNC]
EQTN:equatorin [Gene - OMIM - HGNC]
FOCAD:focadhesin [Gene - OMIM - HGNC]
GLDC:glycine decarboxylase [Gene - OMIM - HGNC]
INSL4:insulin like 4 [Gene - OMIM - HGNC]
INSL6:insulin like 6 [Gene - OMIM - HGNC]
IFNA10:interferon alpha 10 [Gene - OMIM - HGNC]
IFNA13:interferon alpha 13 [Gene - OMIM - HGNC]
IFNA14:interferon alpha 14 [Gene - OMIM - HGNC]
IFNA16:interferon alpha 16 [Gene - OMIM - HGNC]
IFNA17:interferon alpha 17 [Gene - OMIM - HGNC]
IFNA1:interferon alpha 1 [Gene - OMIM - HGNC]
IFNA21:interferon alpha 21 [Gene - OMIM - HGNC]
IFNA2:interferon alpha 2 [Gene - OMIM - HGNC]
IFNA4:interferon alpha 4 [Gene - OMIM - HGNC]
IFNA5:interferon alpha 5 [Gene - OMIM - HGNC]
IFNA6:interferon alpha 6 [Gene - OMIM - HGNC]
IFNA7:interferon alpha 7 [Gene - OMIM - HGNC]
IFNA8:interferon alpha 8 [Gene - OMIM - HGNC]
IFNB1:interferon beta 1 [Gene - OMIM - HGNC]
IFNE:interferon epsilon [Gene - OMIM - HGNC]
IFNW1:interferon omega 1 [Gene - OMIM - HGNC]
IL33:interleukin 33 [Gene - OMIM - HGNC]
IFT74:intraflagellar transport 74 [Gene - OMIM - HGNC]
KLHL9:kelch like family member 9 [Gene - OMIM - HGNC]
LURAP1L:leucine rich adaptor protein 1 like [Gene - OMIM - HGNC]
LINGO2:leucine rich repeat and Ig domain containing 2 [Gene - OMIM - HGNC]
LRRC19:leucine rich repeat containing 19 [Gene - OMIM - HGNC]
KDM4C:lysine demethylase 4C [Gene - OMIM - HGNC]
MLANA:melan-A [Gene - OMIM - HGNC]
MTAP:methylthioadenosine phosphorylase [Gene - OMIM - HGNC]
MIR101-2:microRNA 101-2 [Gene - OMIM - HGNC]
MIR31:microRNA 31 [Gene - OMIM - HGNC]
MPDZ:multiple PDZ domain crumbs cell polarity complex component [Gene - OMIM - HGNC]
NFIB:nuclear factor I B [Gene - OMIM - HGNC]
NFX1:nuclear transcription factor, X-box binding 1 [Gene - OMIM - HGNC]
NOL6:nucleolar protein 6 [Gene - OMIM - HGNC]
PLIN2:perilipin 2 [Gene - OMIM - HGNC]
PLAA:phospholipase A2 activating protein [Gene - OMIM - HGNC]
PLPP6:phospholipid phosphatase 6 [Gene - OMIM - HGNC]
PLGRKT:plasminogen receptor with a C-terminal lysine [Gene - OMIM - HGNC]
KCNV2:potassium voltage-gated channel modifier subfamily V member 2 [Gene - OMIM - HGNC]
PDCD1LG2:programmed cell death 1 ligand 2 [Gene - OMIM - HGNC]
PTPRD:protein tyrosine phosphatase receptor type D [Gene - OMIM - HGNC]
PUM3:pumilio RNA binding family member 3 [Gene - OMIM - HGNC]
RFX3:regulatory factor X3 [Gene - OMIM - HGNC]
RLN1:relaxin 1 [Gene - OMIM - HGNC]
RLN2:relaxin 2 [Gene - OMIM - HGNC]
RPS6:ribosomal protein S6 [Gene - OMIM - HGNC]
SPINK4:serine peptidase inhibitor Kazal type 4 [Gene - OMIM - HGNC]
SNAPC3:small nuclear RNA activating complex polypeptide 3 [Gene - OMIM - HGNC]
SLC1A1:solute carrier family 1 member 1 [Gene - OMIM - HGNC]
SLC24A2:solute carrier family 24 member 2 [Gene - OMIM - HGNC]
SPATA6L:spermatogenesis associated 6 like [Gene - HGNC]
SAXO1:stabilizer of axonemal microtubules 1 [Gene - OMIM - HGNC]
TTC39B:tetratricopeptide repeat domain 39B [Gene - OMIM - HGNC]
TMEM215:transmembrane protein 215 [Gene - HGNC]
TUSC1:tumor suppressor candidate 1 [Gene - OMIM - HGNC]
TYRP1:tyrosinase related protein 1 [Gene - OMIM - HGNC]
UHRF2:ubiquitin like with PHD and ring finger domains 2 [Gene - OMIM - HGNC]
VLDLR:very low density lipoprotein receptor [Gene - OMIM - HGNC]
ZDHHC21:zinc finger DHHC-type palmitoyltransferase 21 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

9p24.3-13.3

Genomic location:

Chr9: 676264 - 33743670 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670)

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002320623	ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories	criteria provided, single submitter (ARUP Cytogenomic Constitutional CNV Assertion Criteria)	Pathogenic (Mar 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002320623

ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories

criteria provided, single submitter

(ARUP Cytogenomic Constitutional CNV Assertion Criteria)

Pathogenic
(Mar 1, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV002320623.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 1, 2024

ClinVar

Relating variation to medicine

GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670) AND not specified

Allele description [Variation Report for GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670)]

GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670)

Condition(s)

Recent activity

Assertion and evidence details

Summary from all submissions

Details of each submission

From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV002320623.1