GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3 AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 27, 2023
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:: RCV003485051.1

Allele description [Variation Report for GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3]

GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3

Genes:

AHNAK2:AHNAK nucleoprotein 2 [Gene - OMIM - HGNC]
AKT1:AKT serine/threonine kinase 1 [Gene - OMIM - HGNC]
ATP5MJ:ATP synthase membrane subunit j [Gene - OMIM - HGNC]
BAG5:BAG cochaperone 5 [Gene - OMIM - HGNC]
BCL11B:BCL11 transcription factor B [Gene - OMIM - HGNC]
BRF1:BRF1 RNA polymerase III transcription initiation factor subunit [Gene - OMIM - HGNC]
BTBD6:BTB domain containing 6 [Gene - HGNC]
BTBD7:BTB domain containing 7 [Gene - OMIM - HGNC]
CDC42BPB:CDC42 binding protein kinase beta [Gene - OMIM - HGNC]
DGLUCY:D-glutamate cyclase [Gene - HGNC]
DDX24:DEAD-box helicase 24 [Gene - OMIM - HGNC]
DIO3OS:DIO3 opposite strand upstream RNA [Gene - OMIM - HGNC]
EFCAB11:EF-hand calcium binding domain 11 [Gene - HGNC]
EML1:EMAP like 1 [Gene - OMIM - HGNC]
EML5:EMAP like 5 [Gene - OMIM - HGNC]
EVL:Enah/Vasp-like [Gene - OMIM - HGNC]
GPR132:G protein-coupled receptor 132 [Gene - OMIM - HGNC]
GPR68:G protein-coupled receptor 68 [Gene - OMIM - HGNC]
GON7:GON7 subunit of KEOPS complex [Gene - OMIM - HGNC]
GSKIP:GSK3B interacting protein [Gene - OMIM - HGNC]
HHIPL1:HHIP like 1 [Gene - HGNC]
MOK:MOK protein kinase [Gene - OMIM - HGNC]
NDUFB1:NADH:ubiquinone oxidoreductase subunit B1 [Gene - OMIM - HGNC]
NRDE2:NRDE-2, necessary for RNA interference, domain containing [Gene - OMIM - HGNC]
OTUB2:OTU deubiquitinase, ubiquitin aldehyde binding 2 [Gene - OMIM - HGNC]
PAPOLA-DT:PAPOLA divergent transcript [Gene - HGNC]
RD3L:RD3 like [Gene - HGNC]
RCOR1:REST corepressor 1 [Gene - OMIM - HGNC]
RIN3:Ras and Rab interactor 3 [Gene - OMIM - HGNC]
SETD3:SET domain containing 3, actin N3(tau)-histidine methyltransferase [Gene - OMIM - HGNC]
SIVA1:SIVA1 apoptosis inducing factor [Gene - OMIM - HGNC]
TCL6:T cell leukemia/lymphoma 6 [Gene - OMIM - HGNC]
TCL1A:TCL1 family AKT coactivator A [Gene - OMIM - HGNC]
TCL1B:TCL1 family AKT coactivator B [Gene - OMIM - HGNC]
TNFAIP2:TNF alpha induced protein 2 [Gene - OMIM - HGNC]
TRAF3:TNF receptor associated factor 3 [Gene - OMIM - HGNC]
VRK1:VRK serine/threonine kinase 1 [Gene - OMIM - HGNC]
WDR20:WD repeat domain 20 [Gene - OMIM - HGNC]
WDR25:WD repeat domain 25 [Gene - OMIM - HGNC]
XRCC3:X-ray repair cross complementing 3 [Gene - OMIM - HGNC]
YY1:YY1 transcription factor [Gene - OMIM - HGNC]
AK7:adenylate kinase 7 [Gene - OMIM - HGNC]
ADSS1:adenylosuccinate synthase 1 [Gene - OMIM - HGNC]
AMN:amnion associated transmembrane protein [Gene - OMIM - HGNC]
ASB2:ankyrin repeat and SOCS box containing 2 [Gene - OMIM - HGNC]
ANKRD9:ankyrin repeat domain 9 [Gene - OMIM - HGNC]
ASPG:asparaginase [Gene - OMIM - HGNC]
ATXN3:ataxin 3 [Gene - OMIM - HGNC]
ATG2B:autophagy related 2B [Gene - OMIM - HGNC]
BDKRB1:bradykinin receptor B1 [Gene - OMIM - HGNC]
BDKRB2:bradykinin receptor B2 [Gene - OMIM - HGNC]
BEGAIN:brain enriched guanylate kinase associated [Gene - OMIM - HGNC]
CLMN:calmin [Gene - OMIM - HGNC]
CALM1:calmodulin 1 [Gene - OMIM - HGNC]
CATSPERB:cation channel sperm associated auxiliary subunit beta [Gene - OMIM - HGNC]
CDCA4:cell division cycle associated 4 [Gene - OMIM - HGNC]
CEP170B:centrosomal protein 170B [Gene - OMIM - HGNC]
CHGA:chromogranin A [Gene - OMIM - HGNC]
C14orf132:chromosome 14 open reading frame 132 [Gene - HGNC]
C14orf180:chromosome 14 open reading frame 180 [Gene - OMIM - HGNC]
CLBA1:clathrin binding box of aftiphilin containing 1 [Gene - HGNC]
CPSF2:cleavage and polyadenylation specific factor 2 [Gene - OMIM - HGNC]
CCDC85C:coiled-coil domain containing 85C [Gene - HGNC]
CCDC88C:coiled-coil domain containing 88C [Gene - OMIM - HGNC]
CKB:creatine kinase B [Gene - OMIM - HGNC]
CCNK:cyclin K [Gene - OMIM - HGNC]
CINP:cyclin dependent kinase 2 interacting protein [Gene - OMIM - HGNC]
CRIP1:cysteine rich protein 1 [Gene - OMIM - HGNC]
CRIP2:cysteine rich protein 2 [Gene - OMIM - HGNC]
CYP46A1:cytochrome P450 family 46 subfamily A member 1 [Gene - OMIM - HGNC]
COA8:cytochrome c oxidase assembly factor 8 [Gene - OMIM - HGNC]
COX8C:cytochrome c oxidase subunit 8C [Gene - OMIM - HGNC]
DEGS2:delta 4-desaturase, sphingolipid 2 [Gene - OMIM - HGNC]
DLK1:delta like non-canonical Notch ligand 1 [Gene - OMIM - HGNC]
DICER1:dicer 1, ribonuclease III [Gene - OMIM - HGNC]
DYNC1H1:dynein cytoplasmic 1 heavy chain 1 [Gene - OMIM - HGNC]
EIF5:eukaryotic translation initiation factor 5 [Gene - OMIM - HGNC]
EXOC3L4:exocyst complex component 3 like 4 [Gene - HGNC]
FAM181A:family with sequence similarity 181 member A [Gene - HGNC]
FBLN5:fibulin 5 [Gene - OMIM - HGNC]
FOXN3:forkhead box N3 [Gene - OMIM - HGNC]
GLRX5:glutaredoxin 5 [Gene - OMIM - HGNC]
GOLGA5:golgin A5 [Gene - OMIM - HGNC]
GSC:goosecoid homeobox [Gene - OMIM - HGNC]
HSP90AA1:heat shock protein 90 alpha family class A member 1 [Gene - OMIM - HGNC]
IGHA1:immunoglobulin heavy constant alpha 1 [Gene - OMIM - HGNC]
IGHA2:immunoglobulin heavy constant alpha 2 (A2m marker) [Gene - OMIM - HGNC]
IGHD:immunoglobulin heavy constant delta [Gene - OMIM - HGNC]
IGHE:immunoglobulin heavy constant epsilon [Gene - OMIM - HGNC]
IGHG1:immunoglobulin heavy constant gamma 1 (G1m marker) [Gene - OMIM - HGNC]
IGHG2:immunoglobulin heavy constant gamma 2 (G2m marker) [Gene - OMIM - HGNC]
IGHG3:immunoglobulin heavy constant gamma 3 (G3m marker) [Gene - OMIM - HGNC]
IGHG4:immunoglobulin heavy constant gamma 4 (G4m marker) [Gene - OMIM - HGNC]
IGHM:immunoglobulin heavy constant mu [Gene - OMIM - HGNC]
IGHD3-3:immunoglobulin heavy diversity 3-3 [Gene - OMIM - HGNC]
IGH:immunoglobulin heavy locus [Gene - OMIM - OMIM - OMIM - HGNC]
IGHV3-23:immunoglobulin heavy variable 3-23 [Gene - OMIM - HGNC]
ITPK1:inositol-tetrakisphosphate 1-kinase [Gene - OMIM - HGNC]
IFI27L1:interferon alpha inducible protein 27 like 1 [Gene - OMIM - HGNC]
IFI27L2:interferon alpha inducible protein 27 like 2 [Gene - OMIM - HGNC]
IFI27:interferon alpha inducible protein 27 [Gene - OMIM - HGNC]
INF2:inverted formin 2 [Gene - OMIM - HGNC]
DIO3:iodothyronine deiodinase 3 [Gene - OMIM - HGNC]
JAG2:jagged canonical Notch ligand 2 [Gene - OMIM - HGNC]
KIF26A:kinesin family member 26A [Gene - OMIM - HGNC]
KLC1:kinesin light chain 1 [Gene - OMIM - HGNC]
LGMN:legumain [Gene - OMIM - HGNC]
LINC02914:long intergenic non-protein coding RNA 2914 [Gene - HGNC]
LYSET:lysosomal enzyme trafficking factor [Gene - OMIM - HGNC]
MEG3:maternally expressed 3 [Gene - OMIM - HGNC]
MEG8:maternally expressed 8, small nucleolar RNA host gene [Gene - OMIM - HGNC]
MTA1:metastasis associated 1 [Gene - OMIM - HGNC]
MIR127:microRNA 127 [Gene - OMIM - HGNC]
MIR134:microRNA 134 [Gene - OMIM - HGNC]
MIR136:microRNA 136 [Gene - OMIM - HGNC]
MIR203A:microRNA 203a [Gene - OMIM - HGNC]
MIR369:microRNA 369 [Gene - OMIM - HGNC]
MIR370:microRNA 370 [Gene - OMIM - HGNC]
MIR376A1:microRNA 376a-1 [Gene - OMIM - HGNC]
MIR376A2:microRNA 376a-2 [Gene - OMIM - HGNC]
MIR376B:microRNA 376b [Gene - OMIM - HGNC]
MIR376C:microRNA 376c [Gene - OMIM - HGNC]
MIR380:microRNA 380 [Gene - OMIM - HGNC]
MIR409:microRNA 409 [Gene - OMIM - HGNC]
MIR410:microRNA 410 [Gene - OMIM - HGNC]
MIR431:microRNA 431 [Gene - OMIM - HGNC]
MIR433:microRNA 433 [Gene - OMIM - HGNC]
MIR487B:microRNA 487b [Gene - OMIM - HGNC]
MIR495:microRNA 495 [Gene - OMIM - HGNC]
MARK3:microtubule affinity regulating kinase 3 [Gene - OMIM - HGNC]
MOAP1:modulator of apoptosis 1 [Gene - OMIM - HGNC]
NUDT14:nudix hydrolase 14 [Gene - OMIM - HGNC]
PACS2:phosphofurin acidic cluster sorting protein 2 [Gene - OMIM - HGNC]
PLD4:phospholipase D family member 4 [Gene - OMIM - HGNC]
PAPOLA:poly(A) polymerase alpha [Gene - OMIM - HGNC]
KCNK10:potassium two pore domain channel subfamily K member 10 [Gene - OMIM - HGNC]
KCNK13:potassium two pore domain channel subfamily K member 13 [Gene - OMIM - HGNC]
PRIMA1:proline rich membrane anchor 1 [Gene - OMIM - HGNC]
PSMC1:proteasome 26S subunit, ATPase 1 [Gene - OMIM - HGNC]
PPP1R13B:protein phosphatase 1 regulatory subunit 13B [Gene - OMIM - HGNC]
PPP2R5C:protein phosphatase 2 regulatory subunit B'gamma [Gene - OMIM - HGNC]
PPP4R3A:protein phosphatase 4 regulatory subunit 3A [Gene - OMIM - HGNC]
PPP4R4:protein phosphatase 4 regulatory subunit 4 [Gene - OMIM - HGNC]
PTPN21:protein tyrosine phosphatase non-receptor type 21 [Gene - OMIM - HGNC]
RTL1:retrotransposon Gag like 1 [Gene - OMIM - HGNC]
RPS6KA5:ribosomal protein S6 kinase A5 [Gene - OMIM - HGNC]
SERPINA10:serpin family A member 10 [Gene - OMIM - HGNC]
SERPINA11:serpin family A member 11 [Gene - OMIM - HGNC]
SERPINA12:serpin family A member 12 [Gene - OMIM - HGNC]
SERPINA1:serpin family A member 1 [Gene - OMIM - HGNC]
SERPINA2:serpin family A member 2 (gene/pseudogene) [Gene - OMIM - HGNC]
SERPINA3:serpin family A member 3 [Gene - OMIM - HGNC]
SERPINA4:serpin family A member 4 [Gene - OMIM - HGNC]
SERPINA5:serpin family A member 5 [Gene - OMIM - HGNC]
SERPINA6:serpin family A member 6 [Gene - OMIM - HGNC]
SERPINA9:serpin family A member 9 [Gene - OMIM - HGNC]
SNHG10:small nucleolar RNA host gene 10 [Gene - HGNC]
SNORD112:small nucleolar RNA, C/D box 112 [Gene - OMIM - HGNC]
SNORD113-1:small nucleolar RNA, C/D box 113-1 [Gene - OMIM - HGNC]
SNORD114-1:small nucleolar RNA, C/D box 114-1 [Gene - OMIM - HGNC]
SLC24A4:solute carrier family 24 member 4 [Gene - OMIM - HGNC]
SLC25A29:solute carrier family 25 member 29 [Gene - OMIM - HGNC]
SLC25A47:solute carrier family 25 member 47 [Gene - OMIM - HGNC]
SYNE3:spectrin repeat containing nuclear envelope family member 3 [Gene - OMIM - HGNC]
SPATA7:spermatogenesis associated 7 [Gene - OMIM - HGNC]
TRMT61A:tRNA methyltransferase 61A [Gene - HGNC]
TC2N:tandem C2 domains, nuclear [Gene - OMIM - HGNC]
TECPR2:tectonin beta-propeller repeat containing 2 [Gene - OMIM - HGNC]
TEX22:testis expressed 22 [Gene - HGNC]
TTC7B:tetratricopeptide repeat domain 7B [Gene - OMIM - HGNC]
TTC8:tetratricopeptide repeat domain 8 [Gene - OMIM - HGNC]
TRIP11:thyroid hormone receptor interactor 11 [Gene - OMIM - HGNC]
TMEM121:transmembrane protein 121 [Gene - HGNC]
TMEM179:transmembrane protein 179 [Gene - HGNC]
WARS1:tryptophanyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
TEDC1:tubulin epsilon and delta complex 1 [Gene - HGNC]
TDRD9:tudor domain containing 9 [Gene - OMIM - HGNC]
TDP1:tyrosyl-DNA phosphodiesterase 1 [Gene - OMIM - HGNC]
UBR7:ubiquitin protein ligase E3 component n-recognin 7 [Gene - OMIM - HGNC]
UNC79:unc-79 homolog, NALCN channel complex subunit [Gene - OMIM - HGNC]
ZC3H14:zinc finger CCCH-type containing 14 [Gene - OMIM - HGNC]
ZFYVE21:zinc finger FYVE-type containing 21 [Gene - OMIM - HGNC]
ZBTB42:zinc finger and BTB domain containing 42 [Gene - OMIM - HGNC]
ZNF839:zinc finger protein 839 [Gene - HGNC]

Variant type:

copy number gain

Cytogenetic location:

14q31.3-32.33

Genomic location:

Chr14: 88580184 - 107285437 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3

HGVS:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004230800	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (ACMG/ClinGen CNV Guidelines, 2019)	Pathogenic (Jan 27, 2023)	unknown	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

SCV004230800

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(ACMG/ClinGen CNV Guidelines, 2019)

Pathogenic
(Jan 27, 2023)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230. doi: 10.1038/s41436-021-01150-9.

PubMed [citation]

PMID:: 31690835
PMCID:: PMC7313390

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004230800.1

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

Description

This gain overlaps the 14q distal or terminal region and results in partial trisomy 14q. Gains falling within or overlapping the current interval have been reported in individuals with variable phenotypes (Han 2021, Sgardiolo 2013, Thiel 2008, Villa 2016). Therefore, based on gene content and current medical literature, this copy number variant (CNV) is classified as pathogenic. References: Han et al., Genes (Basel). 2021 Sep 7;12(9):1388. PMID: 34573370 Liehr et al., Front Genet. 2019 Nov 14;10:1165. PMID: 31798640 Kurtulgan et al., Mol Cytogenet. 2015 Nov 21;8:92. PMID: 26594242 Sgardioli et al., Gene. 2013 Jul 10;523(2):192-4. PMID: 23566844 Sliuzas et al., J Appl Genet. 2008;49(2):205-7. PMID: 18436995 Thiel et al., Eur J Med Genet. 2008 Jul-Aug;51(4):362-7. PMID: 18434272 Villa et al., Mol Cytogenet. 2016 Aug 5;9:60. PMID: 27499811

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

Last Updated: Feb 4, 2024

ClinVar

Relating variation to medicine