Model Details

Patient Information for Model: BCM-15057

Patient Information
Clinical Timeline

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

Model Information for Model: BCM-15057

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
ACSL3chr2222908920222908920GAc.148G>AGaa/Aaap.E50K0.45721Missense VariantMissense VariantMODERATEENST00000357430.8



21ENST00000357430.8
AKAP9chr79202286492022864AAAACc.4004_4006dupaaa/aAACaap.K1335_L1336insQ0.9745035In-frame InsertionIn-frame InsertionMODERATEENST00000356239.8

COSV62337888
rs10644111
5035ENST00000356239.8COSV62337888rs10644111
ARHGEF10chr819568821956882CAc.3654C>AgaC/gaAp.D1218E0.968101Missense VariantMissense VariantMODERATEENST00000349830.8


0.000877889000rs139515492
101ENST00000349830.8rs139515492
BARD1chr2214767531214767532CATGc.1518_1519invcaTGtg/caCAtgp.V507M0.5033424Missense VariantMissense VariantMODERATEENST00000260947.9

COSV105837301
rs386654966
3424ENST00000260947.9COSV105837301rs386654966
BRCA2chr133239478132394781CGc.9349C>GCat/Gatp.H3117D0.04211Missense VariantMissense VariantMODERATEENST00000380152.7



211ENST00000380152.7
CEBPAchr193330182533301825GGGCGGGTc.584_589dupccg/cACCCGCcgp.H195_P196dup0.44996In-frame InsertionIn-frame InsertionMODERATEENST00000498907.3

COSV57196906

96ENST00000498907.3COSV57196906
CIITAchr161090764710907647GAc.2158G>AGcc/Accp.A720T0.968851Missense VariantMissense VariantMODERATEENST00000618327.4


0.000008444590rs755306140
851ENST00000618327.4rs755306140
CIITAchr161090907010909070AGc.2702A>GcAg/cGgp.Q901R0.9848584Missense VariantMissense VariantMODERATEENST00000618327.4
Benign

0.983235000000rs7197779
8584ENST00000618327.4Benignrs7197779
CNTRLchr9121144897121144897CTc.3106C>TCtc/Ttcp.L1036F0.535101Missense VariantMissense VariantMODERATEENST00000373855.5



101ENST00000373855.5
CPEB3chr109223963592239635GAc.716C>TtCg/tTgp.S239L0.53331Missense VariantMissense VariantMODERATEENST00000265997.5


rs772631202
31ENST00000265997.5rs772631202
CREB3L2chr7137928167137928170CTGGCc.299_301delaCCAgt/agtp.T100del0.9614949In-frame DeletionIn-frame DeletionMODERATEENST00000330387.11

COSV57791862
rs3217268
4949ENST00000330387.11COSV57791862rs3217268
CUX1chr7102111730102111730CGc.563C>GtCa/tGap.S188*0.43691Nonsense MutationNonsense MutationHIGHENST00000292535.12

COSV105874205

91ENST00000292535.12COSV105874205
DNM2chr191082915610829156CTc.2179C>TCat/Tatp.H727Y0.47262Missense VariantMissense VariantMODERATEENST00000389253.9
Conflicting_interpretations_of_pathogenicity

0.000274438000rs142963320
62ENST00000389253.9Conflicting_interpretations_of_pathogenicityrs142963320
EP300chr224117837941178379ACc.6668A>CcAg/cCgp.Q2223P0.463224Missense VariantMissense VariantMODERATEENST00000263253.9
Benign
COSV54331579
0.023220900000rs1046088
224ENST00000263253.9BenignCOSV54331579rs1046088
FAM135Bchr8138153029138153030TGCAc.1445_1446invcCA/cTGp.P482L0.9753529Missense VariantMissense VariantMODERATEENST00000395297.6


rs71505459
3529ENST00000395297.6rs71505459
CNV
There are no omics data for this model.


Histology Information for Model: BCM-15057

Patient

PDX