ClinVar Miner

Variants with conflicting interpretations studied for Juvenile Polyposis

Coded as:
Minimum review status of the submission for Juvenile Polyposis: Y axis collection method of the submission for Juvenile Polyposis:
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
23 154 1 30 17 0 0 43

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
Juvenile Polyposis uncertain significance likely benign benign
uncertain significance 0 9 4
likely benign 7 0 29
benign 0 1 1

Condition to condition summary #

Total conditions: 9
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 21 11 0 0 32
not provided 0 4 1 17 5 0 0 22
Hereditary cancer-predisposing syndrome 0 8 0 11 7 0 0 18
Juvenile polyposis syndrome 0 5 0 10 8 0 0 17
Osler hemorrhagic telangiectasia syndrome 0 166 0 11 3 0 0 14
Thoracic aortic aneurysm and aortic dissection 0 1 0 1 1 0 0 2
Cardiovascular phenotype 0 3 0 0 1 0 0 1
Haemorrhagic telangiectasia 1 0 1 0 0 1 0 0 1
Myhre syndrome; Juvenile polyposis syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Carcinoma of pancreas 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 43
Download table as spreadsheet
HGVS dbSNP
NM_000118.3(ENG):c.1029C>T (p.Thr343=) rs3739817
NM_000118.3(ENG):c.1060C>T (p.Leu354=) rs36092484
NM_000118.3(ENG):c.1096G>C (p.Asp366His) rs1800956
NM_000118.3(ENG):c.1135-7G>A rs201359896
NM_000118.3(ENG):c.120C>T (p.Gly40=) rs41522944
NM_000118.3(ENG):c.1374A>G (p.Pro458=) rs34828244
NM_000118.3(ENG):c.1407G>A (p.Pro469=) rs41302657
NM_000118.3(ENG):c.1452C>T (p.Ser484=) rs115450389
NM_000118.3(ENG):c.14C>T (p.Thr5Met) rs35400405
NM_000118.3(ENG):c.1510G>A (p.Val504Met) rs116330805
NM_000118.3(ENG):c.159C>T (p.Cys53=) rs148475405
NM_000118.3(ENG):c.1794T>C (p.Gly598=) rs41358947
NM_000118.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300
NM_000118.3(ENG):c.207G>A (p.Leu69=) rs11545664
NM_000118.3(ENG):c.524-15C>T rs201463582
NM_000118.3(ENG):c.572G>A (p.Gly191Asp) rs41322046
NM_000118.3(ENG):c.732C>T (p.Pro244=) rs112262663
NM_000118.3(ENG):c.909C>T (p.Ala303=) rs200306464
NM_001114753.2(ENG):c.1932C>T (p.Ile644=) rs181330955
NM_004329.2(BMPR1A):c.-137A>G rs886047360
NM_004329.2(BMPR1A):c.1068C>T (p.Pro356=) rs759520915
NM_004329.2(BMPR1A):c.1140C>T (p.Asp380=) rs35572415
NM_004329.2(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056
NM_004329.2(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497
NM_004329.2(BMPR1A):c.1342+6A>G rs55763614
NM_004329.2(BMPR1A):c.1419T>G (p.Val473=) rs145756629
NM_004329.2(BMPR1A):c.435G>A (p.Pro145=) rs11818239
NM_004329.2(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010
NM_004329.2(BMPR1A):c.530+13T>G rs367550999
NM_004329.2(BMPR1A):c.676-5T>C rs200537780
NM_004329.2(BMPR1A):c.676-6A>C rs186999445
NM_004329.2(BMPR1A):c.777G>A (p.Ala259=) rs56108371
NM_005359.5(SMAD4):c.*11C>T rs11663402
NM_005359.5(SMAD4):c.-128+12A>G rs886053891
NM_005359.5(SMAD4):c.1086T>C (p.Phe362=) rs1801250
NM_005359.5(SMAD4):c.1573A>G (p.Ile525Val) rs149755320
NM_005359.5(SMAD4):c.1644A>G (p.Pro548=) rs756795016
NM_005359.5(SMAD4):c.249+10A>C rs752243771
NM_005359.5(SMAD4):c.354G>A (p.Ala118=) rs145988618
NM_005359.5(SMAD4):c.424+5G>A rs200772603
NM_005359.5(SMAD4):c.455-6A>G rs181178864
NM_005359.5(SMAD4):c.667+3G>A rs757971589
NM_005359.5(SMAD4):c.677C>T (p.Ala226Val) rs539739051

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