ClinVar Miner

Variants with conflicting interpretations studied for Carcinoma of colon

Coded as:
Minimum review status of the submission for Carcinoma of colon: Y axis collection method of the submission for Carcinoma of colon:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
78 14 7 20 3 2 7 34

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Carcinoma of colon pathogenic likely pathogenic uncertain significance likely benign benign other
pathogenic 4 16 2 2 2 1
likely pathogenic 3 0 2 1 0 0
uncertain significance 0 1 2 3 1 0
likely benign 0 0 0 0 1 0
benign 0 0 0 0 1 0
risk factor 1 1 1 1 0 0

Condition to condition summary #

Total conditions: 65
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
Hereditary cancer-predisposing syndrome 0 16 0 5 3 1 2 11
not provided 0 16 3 3 2 1 3 11
Malignant melanoma of skin 0 1 0 9 0 0 0 9
Adenocarcinoma of stomach 0 1 0 8 0 0 0 8
not specified 0 7 0 1 2 1 4 8
Adenocarcinoma of prostate 0 1 0 7 0 0 0 7
Lung adenocarcinoma 0 1 0 7 0 0 0 7
Transitional cell carcinoma of the bladder 0 1 0 7 0 0 0 7
Malignant neoplasm of body of uterus 0 1 0 6 0 0 0 6
Squamous cell carcinoma of the head and neck 0 1 0 6 0 0 0 6
Glioblastoma 0 1 0 5 0 0 0 5
Hepatocellular carcinoma 0 1 0 5 0 0 0 5
MYH-associated polyposis 0 9 0 4 1 0 0 5
Neoplasm of brain 0 1 0 5 0 0 0 5
Uterine cervical neoplasms 0 0 0 5 0 0 0 5
Brainstem glioma 0 1 0 4 0 0 0 4
Carcinoma of esophagus 0 1 0 4 0 0 0 4
Medulloblastoma 0 1 0 4 0 0 0 4
Neoplasm 0 0 0 4 0 0 0 4
Pancreatic adenocarcinoma 0 1 0 4 0 0 0 4
Squamous cell lung carcinoma 0 1 0 4 0 0 0 4
Uterine Carcinosarcoma 0 1 0 4 0 0 0 4
Familial adenomatous polyposis 1 0 3 1 1 1 1 0 3
Neoplasm of the large intestine 0 7 0 3 0 0 0 3
Ovarian Serous Cystadenocarcinoma 0 1 0 3 0 0 0 3
Papillary renal cell carcinoma, sporadic 0 0 0 3 0 0 0 3
Renal cell carcinoma, papillary, 1 0 0 0 3 0 0 0 3
Small cell lung cancer 0 1 0 3 0 0 0 3
Breast-ovarian cancer, familial 2 0 0 0 1 0 0 1 2
Carcinoma of gallbladder 0 0 0 2 0 0 0 2
Chronic lymphocytic leukemia 0 1 0 2 0 0 0 2
Cutaneous melanoma 0 2 0 2 0 0 0 2
Familial multiple polyposis syndrome 0 0 0 0 1 1 0 2
Hereditary breast and ovarian cancer syndrome 0 0 0 1 0 0 1 2
Multiple myeloma 0 1 0 2 0 0 0 2
Nasopharyngeal Neoplasms 0 0 0 2 0 0 0 2
Neoplasm of the thyroid gland 0 0 0 2 0 0 0 2
Ovarian Neoplasms 0 3 0 1 0 0 1 2
Acute myeloid leukemia 0 1 0 1 0 0 0 1
Adrenocortical carcinoma 0 0 0 1 0 0 0 1
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 0 0 1 0 0 0 0 1
Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation 0 0 0 1 0 0 0 1
Endometrial neoplasm 0 0 0 1 0 0 0 1
Familial adenomatous polyposis 0 1 0 0 0 1 0 1
Familial cancer of breast; Fanconi anemia, complementation group J 0 0 0 1 0 0 0 1
Familial colorectal cancer 0 1 0 1 0 0 0 1
Fanconi anemia, complementation group E 0 0 0 0 0 0 1 1
Fanconi anemia, complementation group J; Neoplasm of ovary 0 0 0 1 0 0 0 1
Lung cancer 0 1 0 1 0 0 0 1
Malignant tumor of prostate 0 0 0 1 0 0 0 1
Megalencephaly cutis marmorata telangiectatica congenita 0 0 1 0 0 0 0 1
Meningeal Neoplasms 0 0 0 1 0 0 0 1
Mosaic variegated aneuploidy syndrome 0 0 0 0 0 0 1 1
Multiple fibrofolliculomas 0 0 0 0 0 0 1 1
Myelodysplastic syndrome 0 1 0 1 0 0 0 1
Neoplasm of the colon 0 0 0 1 0 0 0 1
Non-Hodgkin lymphoma 0 0 0 1 0 0 0 1
Osteosarcoma 0 0 0 1 0 0 0 1
PIK3CA related overgrowth spectrum 0 1 0 1 0 0 0 1
Prostate neoplasm 0 0 0 1 0 0 0 1
Proteus syndrome 0 0 1 0 0 0 0 1
Rasopathy 0 0 0 1 0 0 0 1
Small intestine carcinoid 0 0 0 1 0 0 0 1
Spontaneous pneumothorax 0 0 0 0 0 0 1 1
Wilms Tumor 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 34
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HGVS dbSNP
NM_000038.5(APC):c.3378C>G (p.Ser1126Arg) rs149353082
NM_000038.5(APC):c.3511C>T (p.Arg1171Cys) rs201830995
NM_000038.5(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.5(APC):c.3927_3931delAAAGA (p.Glu1309Aspfs) rs121913224
NM_000038.5(APC):c.4012C>T (p.Gln1338Ter) rs121913327
NM_000059.3(BRCA2):c.4963delT (p.Tyr1655Thrfs) rs886040557
NM_000059.3(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340
NM_000249.3(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000546.5(TP53):c.843C>A (p.Asp281Glu) rs1057519984
NM_001128425.1(MUTYH):c.1014G>C (p.Gln338His) rs3219489
NM_001128425.1(MUTYH):c.1147delC (p.Ala385Profs) rs587778536
NM_001128425.1(MUTYH):c.1187-2A>G rs587781628
NM_001128425.1(MUTYH):c.1187G>A (p.Gly396Asp) rs36053993
NM_001128425.1(MUTYH):c.1227_1228dupGG (p.Glu410Glyfs) rs587780078
NM_001128425.1(MUTYH):c.1276C>T (p.Arg426Cys) rs150792276
NM_001128425.1(MUTYH):c.1420C>T (p.Arg474Cys) rs200229669
NM_001128425.1(MUTYH):c.1585C>A (p.Leu529Met) rs3219496
NM_001128425.1(MUTYH):c.739C>T (p.Arg247Ter) rs587782885
NM_001211.5(BUB1B):c.119C>T (p.Thr40Met) rs56079734
NM_001904.3(CTNNB1):c.133_135del (p.Ser45del) rs587776850
NM_001904.3(CTNNB1):c.98C>A (p.Ser33Tyr) rs121913400
NM_002524.4(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_004333.4(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.5(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.5(BRAF):c.1801A>G (p.Lys601Glu) rs121913364
NM_005163.2(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_006218.3(PIK3CA):c.1634A>G (p.Glu545Gly) rs121913274
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) rs121913286
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_021922.2(FANCE):c.598C>T (p.Arg200Cys) rs763151358
NM_032043.2(BRIP1):c.1702_1703delAA (p.Asn568Trpfs) rs1057519365
NM_144997.5(FLCN):c.1333G>A (p.Ala445Thr) rs41419545
m.3308T>C rs28358582

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