Model Details

Patient Information for Model: BCM-15046

Patient Information
Clinical Timeline

Color Keys:
 
 Positive
 
 Negative
 
 N/A

Clinical Information at Collection
Clinical Biomarkers/Mutations at Collection
Pathology Information at Collection

Model Information for Model: BCM-15046

Model Details - Initial Implantation of Patient Tissue
Biomarkers & Mutations
Model Details - Acceptable Conditions for Passaging
Mutations (Cancer Gene Census List)

The number of models in this collection with mutations in the listed gene;
may include models that are not publicly available for distribution.
The number of models in this collection with mutations at the listed site;
may include models that are not publicly available for distribution.
GeneChrStartEndRefAltcDNA ChangeCodon ChangeProtein ChangeTVAF Gene Mutation Freq. Site Mutation Freq.Most Severe EffectAll EffectsMutation ImpactTranscript IDClinVar Clinical SignificanceCOSMIC IDgnomAD Non-Cancer AFdbSNP IDGene Mutation Freq.Site Mutation Freq.Transcript IDClinVar Clinical SignificanceCOSMIC IDdbSNP ID
AKAP9chr79209732792097330TAGATc.10373_10375delAGA/-p.R3458del0.316503In-frame DeletionIn-frame DeletionMODERATEENST00000356239.8


rs757087367
503ENST00000356239.8rs757087367
ARchrX6754651467546514TTGGCc.1418_1420dup-/GGCp.G473dup0.639488In-frame InsertionIn-frame InsertionMODERATEENST00000374690.9

COSV104687717

488ENST00000374690.9COSV104687717
ARID1Achr12669684926696849GAc.446G>AgGc/gAcp.G149D0.803193Missense VariantMissense VariantMODERATEENST00000324856.13
Uncertain_significance
COSV61376273
rs2080267760
193ENST00000324856.13Uncertain_significanceCOSV61376273rs2080267760
ATRXchrX7768247177682471CGc.2785G>CGag/Cagp.E929Q0.4255956Missense VariantMissense VariantMODERATEENST00000373344.10
Benign

rs3088074
5956ENST00000373344.10Benignrs3088074
BARD1chr2214767531214767532CATGc.1518_1519invcaTGtg/caCAtgp.V507M0.6533424Missense VariantMissense VariantMODERATEENST00000260947.9

COSV105837301
rs386654966
3424ENST00000260947.9COSV105837301rs386654966
BAZ1Achr143480024834800248CGc.1104G>CgaG/gaCp.E368D0.1592Missense VariantMissense VariantMODERATEENST00000360310.6


rs1773618060
92ENST00000360310.6rs1773618060
BCL6chr3187728428187728428TGc.1472A>CcAc/cCcp.H491P0.24921Missense VariantMissense VariantMODERATEENST00000406870.7


0.000008562960rs748627517
21ENST00000406870.7rs748627517
BCORL1chrX130013265130013265CTc.493C>TCgg/Tggp.R165W0.194112Missense VariantMissense VariantMODERATEENST00000540052.5


0.000005804670rs185537912
112ENST00000540052.5rs185537912
BCRchr222318200023182000CTc.1040C>TtCt/tTtp.S347F0.10472Missense VariantMissense VariantMODERATEENST00000305877.13



72ENST00000305877.13
BCRchr222331459923314599CGc.3611C>GgCc/gGcp.A1204G0.0572Missense VariantMissense VariantMODERATEENST00000305877.13

COSV59925974
0.000060068300rs56265970
72ENST00000305877.13COSV59925974rs56265970
BIRC6chr23251547732515480ATTCAc.11059_11061delaTTCtt/attp.L3687del0.135153In-frame DeletionIn-frame DeletionMODERATEENST00000421745.6



153ENST00000421745.6
BRCA1chr174309198343091983TCc.3548A>GaAa/aGap.K1183R0.047191Missense VariantMissense VariantMODERATEENST00000357654.9
Benign
COSV58784397
0.354676000000rs16942
191ENST00000357654.9BenignCOSV58784397rs16942
CDK12chr173946261539462618GAGAGc.548_550delgAGAag/gagp.K183del0.983In-frame DeletionIn-frame DeletionMODERATEENST00000447079.6



83ENST00000447079.6
CHD2chr159299295892992958GCc.3555G>CatG/atCp.M1185I0.25451Missense VariantMissense VariantMODERATEENST00000394196.9



51ENST00000394196.9
CICchr194229134042291340CTc.2572C>TCcc/Tccp.P858S0.91113Missense VariantMissense VariantMODERATEENST00000575354.6

COSV99360636
0.000175355000rs139895527
113ENST00000575354.6COSV99360636rs139895527
CNV


Histology Information for Model: BCM-15046

Patient

PDX