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Breast
BCM-15046
Model Details
Patient
PDX Model
Histology
Metastasis
Patient Treatment
Patient Information for Model: BCM-15046
Patient Information
Clinical Timeline
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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)
Show/Hide Columns
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.
Total mutations showing: 84
F
P
1
2
3
4
5
6
N
E
Rows Per Page
10
15
25
50
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Gene
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Chr
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cDNA Change
Codon Change
Protein Change
TVAF
Gene Mutation Freq.
Site Mutation Freq.
Most Severe Effect
All Effects
Mutation Impact
Transcript ID
ClinVar Clinical Significance
COSMIC ID
gnomAD Non-Cancer AF
dbSNP ID
Gene Mutation Freq.
Site Mutation Freq.
Transcript ID
ClinVar Clinical Significance
COSMIC ID
dbSNP ID
AKAP9
chr7
92097327
92097330
TAGA
T
c.10373_10375del
AGA/-
p.R3458del
0.316
50
3
In-frame Deletion
In-frame Deletion
MODERATE
ENST00000356239.8
rs757087367
50
3
ENST00000356239.8
rs757087367
AR
chrX
67546514
67546514
T
TGGC
c.1418_1420dup
-/GGC
p.G473dup
0.639
48
8
In-frame Insertion
In-frame Insertion
MODERATE
ENST00000374690.9
COSV104687717
48
8
ENST00000374690.9
COSV104687717
ARID1A
chr1
26696849
26696849
G
A
c.446G>A
gGc/gAc
p.G149D
0.803
19
3
Missense Variant
Missense Variant
MODERATE
ENST00000324856.13
Uncertain_significance
COSV61376273
rs2080267760
19
3
ENST00000324856.13
Uncertain_significance
COSV61376273
rs2080267760
ATRX
chrX
77682471
77682471
C
G
c.2785G>C
Gag/Cag
p.E929Q
0.425
59
56
Missense Variant
Missense Variant
MODERATE
ENST00000373344.10
Benign
rs3088074
59
56
ENST00000373344.10
Benign
rs3088074
BARD1
chr2
214767531
214767532
CA
TG
c.1518_1519inv
caTGtg/caCAtg
p.V507M
0.653
34
24
Missense Variant
Missense Variant
MODERATE
ENST00000260947.9
COSV105837301
rs386654966
34
24
ENST00000260947.9
COSV105837301
rs386654966
BAZ1A
chr14
34800248
34800248
C
G
c.1104G>C
gaG/gaC
p.E368D
0.15
9
2
Missense Variant
Missense Variant
MODERATE
ENST00000360310.6
rs1773618060
9
2
ENST00000360310.6
rs1773618060
BCL6
chr3
187728428
187728428
T
G
c.1472A>C
cAc/cCc
p.H491P
0.249
2
1
Missense Variant
Missense Variant
MODERATE
ENST00000406870.7
0.000008562960
rs748627517
2
1
ENST00000406870.7
rs748627517
BCORL1
chrX
130013265
130013265
C
T
c.493C>T
Cgg/Tgg
p.R165W
0.194
11
2
Missense Variant
Missense Variant
MODERATE
ENST00000540052.5
0.000005804670
rs185537912
11
2
ENST00000540052.5
rs185537912
BCR
chr22
23182000
23182000
C
T
c.1040C>T
tCt/tTt
p.S347F
0.104
7
2
Missense Variant
Missense Variant
MODERATE
ENST00000305877.13
7
2
ENST00000305877.13
BCR
chr22
23314599
23314599
C
G
c.3611C>G
gCc/gGc
p.A1204G
0.05
7
2
Missense Variant
Missense Variant
MODERATE
ENST00000305877.13
COSV59925974
0.000060068300
rs56265970
7
2
ENST00000305877.13
COSV59925974
rs56265970
BIRC6
chr2
32515477
32515480
ATTC
A
c.11059_11061del
aTTCtt/att
p.L3687del
0.135
15
3
In-frame Deletion
In-frame Deletion
MODERATE
ENST00000421745.6
15
3
ENST00000421745.6
BRCA1
chr17
43091983
43091983
T
C
c.3548A>G
aAa/aGa
p.K1183R
0.047
19
1
Missense Variant
Missense Variant
MODERATE
ENST00000357654.9
Benign
COSV58784397
0.354676000000
rs16942
19
1
ENST00000357654.9
Benign
COSV58784397
rs16942
CDK12
chr17
39462615
39462618
GAGA
G
c.548_550del
gAGAag/gag
p.K183del
0.9
8
3
In-frame Deletion
In-frame Deletion
MODERATE
ENST00000447079.6
8
3
ENST00000447079.6
CHD2
chr15
92992958
92992958
G
C
c.3555G>C
atG/atC
p.M1185I
0.254
5
1
Missense Variant
Missense Variant
MODERATE
ENST00000394196.9
5
1
ENST00000394196.9
CIC
chr19
42291340
42291340
C
T
c.2572C>T
Ccc/Tcc
p.P858S
0.91
11
3
Missense Variant
Missense Variant
MODERATE
ENST00000575354.6
COSV99360636
0.000175355000
rs139895527
11
3
ENST00000575354.6
COSV99360636
rs139895527
Total mutations showing: 84
F
P
1
2
3
4
5
6
N
E
Rows Per Page
10
15
25
50
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CNV
Histology Information for Model: BCM-15046
Patient
PDX