GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) AND Bradycardia

Germline classification:: Pathogenic (1 submission)
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV002280662.1

Allele description [Variation Report for GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)]

GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)

Genes:

HACD4:3-hydroxyacyl-CoA dehydratase 4 [Gene - OMIM - HGNC]
ADAMTSL1:ADAMTS like 1 [Gene - OMIM - HGNC]
ARID3C:AT-rich interaction domain 3C [Gene - OMIM - HGNC]
BAG1:BAG cochaperone 1 [Gene - OMIM - HGNC]
CCL19:C-C motif chemokine ligand 19 [Gene - OMIM - HGNC]
CCL21:C-C motif chemokine ligand 21 [Gene - OMIM - HGNC]
CCL27:C-C motif chemokine ligand 27 [Gene - OMIM - HGNC]
C9orf72:C9orf72-SMCR8 complex subunit [Gene - OMIM - HGNC]
CD274:CD274 molecule [Gene - OMIM - HGNC]
CD72:CD72 molecule [Gene - OMIM - HGNC]
CDKN2B-AS1:CDKN2B antisense RNA 1 [Gene - OMIM - HGNC]
DCAF10:DDB1 and CUL4 associated factor 10 [Gene - OMIM - HGNC]
DCAF12:DDB1 and CUL4 associated factor 12 [Gene - OMIM - HGNC]
DENND4C:DENN domain containing 4C [Gene - HGNC]
DMRTA1:DMRT like family A1 [Gene - OMIM - HGNC]
DOCK8-AS1:DOCK8 antisense RNA 1 [Gene - HGNC]
DNAJA1:DnaJ heat shock protein family (Hsp40) member A1 [Gene - OMIM - HGNC]
DNAJB5:DnaJ heat shock protein family (Hsp40) member B5 [Gene - OMIM - HGNC]
ELAVL2:ELAV like RNA binding protein 2 [Gene - OMIM - HGNC]
FBXO10:F-box protein 10 [Gene - OMIM - HGNC]
FANCG:FA complementation group G [Gene - OMIM - HGNC]
FRMPD1:FERM and PDZ domain containing 1 [Gene - OMIM - HGNC]
FREM1:FRAS1 related extracellular matrix 1 [Gene - OMIM - HGNC]
GLIPR2:GLI pathogenesis related 2 [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]
PHF24:PHD finger protein 24 [Gene - OMIM - HGNC]
RANBP6:RAN binding protein 6 [Gene - HGNC]
RGP1:RGP1 homolog, RAB6A GEF complex partner 1 [Gene - OMIM - HGNC]
RIC1:RIC1 homolog, RAB6A GEF complex partner 1 [Gene - OMIM - HGNC]
RMRP:RNA component of mitochondrial RNA processing endoribonuclease [Gene - OMIM - HGNC]
POLR1E:RNA polymerase I subunit E [Gene - HGNC]
RIGI:RNA sensor RIG-I [Gene - OMIM - HGNC]
RCL1:RNA terminal phosphate cyclase like 1 [Gene - OMIM - HGNC]
RUSC2:RUN and SH3 domain containing 2 [Gene - OMIM - HGNC]
RRAGA:Ras related GTP binding A [Gene - OMIM - HGNC]
ARHGEF39:Rho guanine nucleotide exchange factor 39 [Gene - HGNC]
SHB:SH2 domain containing adaptor protein B [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]
SPATA31A1:SPATA31 subfamily A member 1 [Gene - HGNC]
SPATA31A3:SPATA31 subfamily A member 3 [Gene - HGNC]
SPATA31A5:SPATA31 subfamily A member 5 [Gene - HGNC]
SPATA31A6:SPATA31 subfamily A member 6 [Gene - HGNC]
SPATA31A7:SPATA31 subfamily A member 7 [Gene - OMIM - HGNC]
SPATA31F1:SPATA31 subfamily F member 1 [Gene - HGNC]
SPATA31G1:SPATA31 subfamily G member 1 [Gene - 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]
ALDH1B1:aldehyde dehydrogenase 1 family member B1 [Gene - OMIM - HGNC]
ACER2:alkaline ceramidase 2 [Gene - OMIM - HGNC]
ANKRD18A:ankyrin repeat domain 18A [Gene - OMIM - HGNC]
ANKRD18B:ankyrin repeat domain 18B [Gene - OMIM - HGNC]
ANKRD20A1:ankyrin repeat domain 20 family member A1 [Gene - HGNC]
APTX:aprataxin [Gene - OMIM - HGNC]
AQP3:aquaporin 3 (Gill blood group) [Gene - OMIM - HGNC]
AQP7:aquaporin 7 [Gene - OMIM - HGNC]
ATOSB:atos homolog B [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]
CREB3:cAMP responsive element binding protein 3 [Gene - OMIM - HGNC]
CCIN:calicin [Gene - OMIM - HGNC]
CA9:carbonic anhydrase 9 [Gene - OMIM - 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]
CIMIP2B:ciliary microtubule inner protein 2B [Gene - HGNC]
CNTFR:ciliary neurotrophic factor receptor [Gene - OMIM - HGNC]
CLTA:clathrin light chain A [Gene - OMIM - HGNC]
CCDC107:coiled-coil domain containing 107 [Gene - HGNC]
CCDC171:coiled-coil domain containing 171 [Gene - HGNC]
CNTNAP3:contactin associated protein family member 3 [Gene - OMIM - HGNC]
CNTNAP3B:contactin associated protein family member 3B [Gene - HGNC]
CDKN2A:cyclin dependent kinase inhibitor 2A [Gene - OMIM - HGNC]
CDKN2B:cyclin dependent kinase inhibitor 2B [Gene - OMIM - HGNC]
DOCK8:dedicator of cytokinesis 8 [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]
DCTN3:dynactin subunit 3 [Gene - OMIM - HGNC]
DNAI1:dynein axonemal intermediate chain 1 [Gene - OMIM - HGNC]
ERMP1:endoplasmic reticulum metallopeptidase 1 [Gene - OMIM - HGNC]
ENHO:energy homeostasis associated [Gene - OMIM - HGNC]
EQTN:equatorin [Gene - OMIM - HGNC]
EXOSC3:exosome component 3 [Gene - OMIM - HGNC]
FAM219A:family with sequence similarity 219 member A [Gene - HGNC]
FAM221B:family with sequence similarity 221 member B [Gene - HGNC]
FAM27D1:family with sequence similarity 27 member D1 [Gene - HGNC]
FOCAD:focadhesin [Gene - OMIM - HGNC]
GALT:galactose-1-phosphate uridylyltransferase [Gene - OMIM - HGNC]
GNE:glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase [Gene - OMIM - HGNC]
GBA2:glucosylceramidase beta 2 [Gene - OMIM - HGNC]
GLDC:glycine decarboxylase [Gene - OMIM - HGNC]
GRHPR:glyoxylate and hydroxypyruvate reductase [Gene - OMIM - HGNC]
HRCT1:histidine rich carboxyl terminus 1 [Gene - HGNC]
HINT2:histidine triad nucleotide binding protein 2 [Gene - OMIM - HGNC]
INSL4:insulin like 4 [Gene - OMIM - HGNC]
INSL6:insulin like 6 [Gene - OMIM - HGNC]
IGFBPL1:insulin like growth factor binding protein like 1 [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]
IL11RA:interleukin 11 receptor subunit alpha [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]
KIF24:kinesin family member 24 [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]
MELK:maternal embryonic leucine zipper kinase [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]
MSMP:microseminoprotein, prostate associated [Gene - OMIM - HGNC]
MPDZ:multiple PDZ domain crumbs cell polarity complex component [Gene - OMIM - HGNC]
MYORG:myogenesis regulating glycosidase [Gene - OMIM - HGNC]
NPR2:natriuretic peptide receptor 2 [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]
NUDT2:nudix hydrolase 2 [Gene - OMIM - HGNC]
OR13J1:olfactory receptor family 13 subfamily J member 1 [Gene - HGNC]
OR2S2:olfactory receptor family 2 subfamily S member 2 [Gene - HGNC]
PAX5:paired box 5 [Gene - OMIM - HGNC]
PLIN2:perilipin 2 [Gene - OMIM - HGNC]
PIGO:phosphatidylinositol glycan anchor biosynthesis class O [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]
RECK:reversion inducing cysteine rich protein with kazal motifs [Gene - OMIM - HGNC]
RPP25L:ribonuclease P/MRP subunit p25 like [Gene - HGNC]
RPS6:ribosomal protein S6 [Gene - OMIM - HGNC]
RNF38:ring finger protein 38 [Gene - OMIM - HGNC]
SPINK4:serine peptidase inhibitor Kazal type 4 [Gene - OMIM - HGNC]
PRSS3:serine protease 3 [Gene - OMIM - HGNC]
SIGMAR1:sigma non-opioid intracellular receptor 1 [Gene - OMIM - HGNC]
SIT1:signaling threshold regulating transmembrane adaptor 1 [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]
SLC25A51:solute carrier family 25 member 51 [Gene - OMIM - HGNC]
SPAG8:sperm associated antigen 8 [Gene - OMIM - HGNC]
SPMIP6:sperm microtubule inner protein 6 [Gene - OMIM - HGNC]
SPATA6L:spermatogenesis associated 6 like [Gene - HGNC]
SAXO1:stabilizer of axonemal microtubules 1 [Gene - OMIM - HGNC]
STOML2:stomatin like 2 [Gene - OMIM - HGNC]
TRMT10B:tRNA methyltransferase 10B [Gene - HGNC]
TLN1:talin 1 [Gene - OMIM - HGNC]
TESK1:testis associated actin remodelling kinase 1 [Gene - OMIM - HGNC]
TTC39B:tetratricopeptide repeat domain 39B [Gene - OMIM - HGNC]
TOMM5:translocase of outer mitochondrial membrane 5 [Gene - OMIM - HGNC]
TMEM215:transmembrane protein 215 [Gene - HGNC]
TMEM8B:transmembrane protein 8B [Gene - OMIM - HGNC]
TPM2:tropomyosin 2 [Gene - OMIM - HGNC]
TUSC1:tumor suppressor candidate 1 [Gene - OMIM - HGNC]
TYRP1:tyrosinase related protein 1 [Gene - OMIM - HGNC]
UBAP1:ubiquitin associated protein 1 [Gene - OMIM - HGNC]
UBAP2:ubiquitin associated protein 2 [Gene - HGNC]
UBE2R2:ubiquitin conjugating enzyme E2 R2 [Gene - OMIM - HGNC]
UHRF2:ubiquitin like with PHD and ring finger domains 2 [Gene - OMIM - HGNC]
UNC13B:unc-13 homolog B [Gene - OMIM - HGNC]
VCP:valosin containing protein [Gene - OMIM - HGNC]
VLDLR:very low density lipoprotein receptor [Gene - OMIM - HGNC]
ZCCHC7:zinc finger CCHC-type containing 7 [Gene - HGNC]
ZDHHC21:zinc finger DHHC-type palmitoyltransferase 21 [Gene - OMIM - HGNC]
ZBTB5:zinc finger and BTB domain containing 5 [Gene - OMIM - HGNC]
ZNF658:zinc finger protein 658 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

9p24.3-q13

Genomic location:

Chr9: 203861 - 68342786 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)

Condition(s)

Name:: Bradycardia
Identifiers:: MedGen: C0428977; Human Phenotype Ontology: HP:0001662

Recent activity

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cytochrome c oxidase subunit II (mitochondrion) [Prodotiscus insignis]
cytochrome c oxidase subunit II (mitochondrion) [Prodotiscus insignis]
gi|1511252030|ref|YP_009538223.1|

Protein
cytochrome c oxidase subunit III (mitochondrion) [Indicator xanthonotus]
cytochrome c oxidase subunit III (mitochondrion) [Indicator xanthonotus]
gi|1526694845|ref|YP_009543454.1|

Protein
Rhizobium calliandrae strain CCGE524 scaffold_49, whole genome shotgun sequence
Rhizobium calliandrae strain CCGE524 scaffold_49, whole genome shotgun sequence
gi|2521418755|ref|NZ_JARFYN01000005 gnl|WGS:NZ_JARFYN01|scaffold_49

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002568927	Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	no assertion criteria provided	Pathogenic	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002568927

Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital

no assertion criteria provided

Pathogenic

unknown

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital, SCV002568927.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 1, 2024

ClinVar

Relating variation to medicine

GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) AND Bradycardia

Allele description [Variation Report for GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)]

GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)

Condition(s)

Recent activity

Assertion and evidence details

Summary from all submissions

Details of each submission

From Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital, SCV002568927.1