ClinVar Miner

Variants with conflicting interpretations studied for Adenoid cystic carcinoma

Coded as:
Minimum review status of the submission for Adenoid cystic carcinoma: Y axis collection method of the submission for Adenoid cystic carcinoma:
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
12 24 0 14 0 1 6 20

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
Adenoid cystic carcinoma pathogenic likely pathogenic uncertain significance drug response
likely pathogenic 14 0 4 1
uncertain significance 1 1 0 0

Condition to condition summary #

Total conditions: 25
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 provided 0 1 0 5 0 0 2 7
Acute myeloid leukemia 0 3 0 5 0 0 0 5
Li-Fraumeni syndrome 0 1 0 2 0 0 3 5
Costello syndrome 0 0 0 3 0 0 0 3
Breast adenocarcinoma 0 0 0 2 0 0 0 2
Congenital giant melanocytic nevus; Epidermal nevus syndrome; Bladder cancer, somatic; Costello syndrome; Epidermal nevus; Follicular thyroid carcinoma 0 0 0 2 0 0 0 2
Hereditary cancer-predisposing syndrome 0 3 0 2 0 0 0 2
Nevus sebaceous 0 0 0 2 0 0 0 2
PIK3CA related overgrowth spectrum 0 0 0 2 0 0 0 2
Rasopathy 0 0 0 2 0 0 0 2
Adenocarcinoma of stomach 0 31 0 0 0 0 1 1
Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 0 0 0 1 0 0 0 1
Carcinoma of esophagus 0 17 0 0 0 0 1 1
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 0 0 0 1 0 0 0 1
Cowden syndrome 0 0 0 1 0 0 0 1
Epidermal nevus 0 0 0 1 0 0 0 1
Epidermal nevus with urothelial cancer, somatic 0 0 0 1 0 0 0 1
Glioblastoma multiforme, somatic 0 0 0 1 0 0 0 1
Inborn genetic diseases 0 0 0 1 0 0 0 1
Li-Fraumeni syndrome 1 0 0 0 1 0 0 0 1
Malignant neoplasm of body of uterus 0 27 0 0 0 0 1 1
Myopathy, congenital, with excess of muscle spindles 0 0 0 1 0 0 0 1
Neoplasm of ovary 0 0 0 1 0 0 0 1
Nevus, woolly hair 0 0 0 1 0 0 0 1
PARP Inhibitor response 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_000141.4(FGFR2):c.1144T>C (p.Cys382Arg) rs121913474
NM_000215.3(JAK3):c.1765G>A (p.Gly589Ser) rs886039394
NM_000546.5(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.5(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_000546.5(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.5(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_000546.5(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_000546.5(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.5(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_001079846.1(CREBBP):c.4222C>T (p.Arg1408Cys) rs398124146
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_005896.3(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_005896.3(IDH1):c.394C>G (p.Arg132Gly) rs121913499
NM_005896.3(IDH1):c.394C>T (p.Arg132Cys) rs121913499
NM_005896.3(IDH1):c.395G>A (p.Arg132His) rs121913500
NM_005896.3(IDH1):c.395G>T (p.Arg132Leu) rs121913500
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile) rs121913283

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.