ClinVar Miner

Variants with conflicting interpretations studied for Papillary renal cell carcinoma, sporadic

Coded as:
Minimum review status of the submission for Papillary renal cell carcinoma, sporadic: Collection method of the submission for Papillary renal cell carcinoma, sporadic:
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 per condition Variants with at least 2 submissions on the same condition 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 conflict
29 4 0 17 0 1 2 19

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
Papillary renal cell carcinoma, sporadic pathogenic uncertain significance drug response
likely pathogenic 17 2 1

Condition to condition summary #

Total conditions: 21
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
not provided 0 4 0 14 0 0 2 15
Abnormal cardiovascular system morphology 0 0 0 3 0 0 0 3
PIK3CA related overgrowth syndrome 0 0 0 3 0 0 0 3
See cases 0 0 0 3 0 0 0 3
Cerebrofacial Vascular Metameric Syndrome (CVMS) 0 0 0 2 0 0 0 2
HEMIFACIAL MYOHYPERPLASIA, SOMATIC 0 0 0 2 0 0 0 2
Nevus sebaceous 0 0 0 2 0 0 0 2
Astrocytoma, low-grade, somatic 0 0 0 1 0 0 0 1
BRAF-related condition 0 0 0 1 0 0 0 1
CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC 0 0 0 1 0 0 0 1
Cardiovascular phenotype 0 0 0 1 0 0 0 1
Cystic epithelial invagination containing papillae lined by columnar epithelium 0 0 0 1 0 0 0 1
Eccrine Angiomatous Hamartoma 0 0 0 1 0 0 0 1
Epidermal nevus with urothelial cancer, somatic 0 0 0 1 0 0 0 1
FGFR3-related condition 0 0 0 1 0 0 0 1
HRAS-related condition 0 0 0 1 0 0 0 1
Histone Methylation Therapy response 0 0 0 0 0 1 0 1
OVARIAN CANCER, EPITHELIAL, SOMATIC 0 0 0 1 0 0 0 1
PIK3CA-related condition 0 0 0 1 0 0 0 1
Segmental undergrowth associated with lymphatic malformation 0 0 0 1 0 0 0 1
TP53-related condition 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000546.6(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_000546.6(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.6(TP53):c.722C>A (p.Ser241Tyr) rs28934573
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_004333.6(BRAF):c.1741A>C (p.Asn581His) rs180177040
NM_004333.6(BRAF):c.1742A>C (p.Asn581Thr) rs121913370
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005614.4(RHEB):c.104A>G (p.Tyr35Cys) rs1057519950
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln) rs104886003
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) rs121913274
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp) rs121913275

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