ClinVar Miner

Variants with conflicting interpretations studied for Colorectal cancer

Coded as:
Minimum review status of the submission for Colorectal cancer: Y axis collection method of the submission for Colorectal cancer:
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
7 19 0 7 15 1 5 25

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
Colorectal cancer pathogenic likely pathogenic uncertain significance likely benign benign risk factor
likely pathogenic 1 0 1 0 0 0
uncertain significance 1 3 0 14 1 1
likely benign 0 1 1 0 5 0
benign 0 0 0 1 0 0

Condition to condition summary #

Total conditions: 20
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
not specified 0 10 0 3 13 0 0 16
Hereditary cancer-predisposing syndrome 0 14 0 4 8 0 2 14
Familial cancer of breast 0 2 0 3 3 0 3 9
not provided 0 19 0 2 2 0 2 5
Familial adenomatous polyposis 1 0 2 0 0 3 0 0 3
CHEK2-Related Cancer Susceptibility 0 0 0 0 0 0 2 2
Colorectal cancer, susceptibility to, 12 0 4 0 1 1 0 0 2
Neoplasm of the breast 0 13 0 0 0 0 2 2
Breast and colorectal cancer, susceptibility to 0 1 0 0 0 0 1 1
Breast cancer, susceptibility to 0 0 0 0 0 1 1 1
Familial cancer of breast; Li-Fraumeni syndrome 2; Osteosarcoma; Malignant tumor of prostate 0 1 0 0 0 0 1 1
Hereditary breast and ovarian cancer syndrome 0 1 0 0 0 0 1 1
Hereditary nonpolyposis colon cancer 0 5 0 0 1 0 0 1
Hirschsprung disease 0 0 0 0 0 0 1 1
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 0 0 0 1 0 0 0 1
Juvenile polyposis syndrome 0 0 0 0 0 0 1 1
Long QT syndrome 0 0 0 1 0 0 0 1
Lynch syndrome 0 4 0 0 1 0 0 1
Lynch syndrome I 0 0 0 0 1 0 0 1
Oligodontia-colorectal cancer syndrome 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys) rs754691867
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287
NM_000179.2(MSH6):c.2398G>C (p.Val800Leu) rs61748083
NM_000179.2(MSH6):c.2561A>T (p.Lys854Met) rs34374438
NM_000251.2(MSH2):c.138C>G (p.His46Gln) rs33946261
NM_001256849.1(POLD1):c.17G>A (p.Arg6Gln) rs778275831
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857
NM_005359.5(SMAD4):c.1610A>G (p.Asp537Gly) rs1555687605
NM_005751.4(AKAP9):c.1389G>T (p.Met463Ile) rs6964587
NM_006164.5(NFE2L2):c.91G>A (p.Gly31Arg) rs1553488015
NM_006231.3(POLE):c.16G>C (p.Gly6Arg) rs202220778
NM_006231.3(POLE):c.844C>T (p.Pro282Ser) rs138207610
NM_006231.3(POLE):c.861T>A (p.Asp287Glu) rs139075637
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=) rs749156425
NM_007194.4(CHEK2):c.1461+12A>G rs886057328
NM_007194.4(CHEK2):c.1542+11T>A rs17881716
NM_007194.4(CHEK2):c.15G>A (p.Ser5=) rs145183886
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser) rs876660788
NM_007194.4(CHEK2):c.417C>T (p.Tyr139=) rs200917541
NM_007194.4(CHEK2):c.592+3A>T rs587782849
NM_007194.4(CHEK2):c.593-14C>T rs145754558

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.