ClinVar Miner

Variants with conflicting interpretations studied for Adrenocortical carcinoma

Coded as:
Minimum review status of the submission for Adrenocortical carcinoma: Y axis collection method of the submission for Adrenocortical 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
0 23 2 32 0 5 15 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
Adrenocortical carcinoma pathogenic likely pathogenic uncertain significance drug response other
likely pathogenic 32 2 15 2 3

Condition to condition summary #

Total conditions: 47
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
Li-Fraumeni syndrome 0 5 0 5 0 0 8 13
not provided 0 1 2 8 0 0 3 12
Cutaneous melanoma 0 1 0 11 0 0 0 11
Hereditary cancer-predisposing syndrome 0 13 0 6 0 0 2 8
Non-small cell lung cancer 0 2 0 7 0 0 0 7
Neoplasm of the large intestine 0 55 0 5 0 0 0 5
Hepatocellular carcinoma 0 52 0 3 0 0 0 3
McCune-Albright syndrome 0 0 0 3 0 0 0 3
Breast adenocarcinoma 0 0 0 2 0 0 0 2
Congenital giant melanocytic nevus 0 0 0 2 0 0 0 2
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 0 0 0 2 0 0 0 2
Cushing's syndrome 0 0 0 2 0 0 0 2
Hepatoblastoma 0 0 0 2 0 1 0 2
Li-Fraumeni syndrome 1 0 1 0 2 0 0 0 2
Neoplasm of the breast 0 43 0 2 0 0 0 2
Neurocutaneous melanosis 0 0 0 2 0 0 0 2
Ovarian Neoplasms 0 12 0 2 0 0 0 2
PIK3CA related overgrowth spectrum 0 0 0 2 0 0 0 2
PITUITARY ADENOMA 3, MULTIPLE TYPES 0 0 0 2 0 0 0 2
Pilomatrixoma 0 1 0 2 0 0 0 2
Sex cord-stromal tumor 0 0 0 2 0 0 0 2
not specified 0 2 0 1 0 0 1 2
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Carcinoma of colon; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma 0 0 0 1 0 0 0 1
Anaplastic thyroid carcinoma 0 0 0 1 0 0 0 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 colon 0 0 0 1 0 0 0 1
Cowden syndrome 0 0 0 1 0 0 0 1
Desmoid tumor, somatic 0 0 0 1 0 0 0 1
Epidermal nevus 0 0 0 1 0 0 0 1
Epidermal nevus syndrome 0 0 0 1 0 0 0 1
Familial cancer of breast; Megalencephaly cutis marmorata telangiectatica congenita; Lung cancer; Congenital macrodactylia; Keratosis, seborrheic; Epidermal nevus; Neoplasm of ovary; Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth; Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi; Carcinoma of colon; Neoplasm of stomach; Cowden syndrome 5; Hepatocellular carcinoma 0 0 0 1 0 0 0 1
Follicular thyroid carcinoma 0 0 0 1 0 0 0 1
Keratosis, seborrheic 0 0 0 1 0 0 0 1
MACRODACTYLY, SOMATIC 0 0 0 1 0 0 0 1
Macrodactyly of toe; Stroke 0 0 0 1 0 0 0 1
Malignant tumor of prostate 0 0 0 0 0 0 1 1
Medulloblastoma 0 11 0 0 0 1 0 1
Megalencephaly cutis marmorata telangiectatica congenita 0 0 0 1 0 0 0 1
Neoplasm of ovary 0 0 0 1 0 0 0 1
Neoplasm of stomach 0 0 0 1 0 0 0 1
Non-Hodgkin lymphoma 0 0 0 1 0 0 0 1
Ovarian epithelial cancer 0 0 0 1 0 0 0 1
PARP Inhibitor response 0 0 0 0 0 1 0 1
RAS Inhibitor response 0 0 0 0 0 1 0 1
Rasopathy 0 0 0 0 0 0 1 1
Rosette-forming glioneuronal tumor 0 0 0 1 0 0 0 1
Wilms Tumor 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 43
Download table as spreadsheet
HGVS dbSNP
NM_000516.5(GNAS):c.601C>T (p.Arg201Cys) rs11554273
NM_000516.5(GNAS):c.602G>A (p.Arg201His) rs121913495
NM_000516.5(GNAS):c.602G>T (p.Arg201Leu) rs121913495
NM_000546.5(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_000546.5(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.5(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_000546.5(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.5(TP53):c.395A>G (p.Lys132Arg) rs1057519996
NM_000546.5(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_000546.5(TP53):c.403T>G (p.Cys135Gly) rs1057519975
NM_000546.5(TP53):c.405C>G (p.Cys135Trp) rs1057519976
NM_000546.5(TP53):c.517G>A (p.Val173Met) rs876660754
NM_000546.5(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_000546.5(TP53):c.518T>A (p.Val173Glu) rs1057519747
NM_000546.5(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.5(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_000546.5(TP53):c.700T>C (p.Tyr234His) rs864622237
NM_000546.5(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_000546.5(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.5(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.5(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.5(TP53):c.824G>A (p.Cys275Tyr) rs863224451
NM_000546.5(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_001904.3(CTNNB1):c.101G>A (p.Gly34Glu) rs28931589
NM_001904.3(CTNNB1):c.101G>T (p.Gly34Val) rs28931589
NM_001904.3(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001904.3(CTNNB1):c.122C>T (p.Thr41Ile) rs121913413
NM_001904.3(CTNNB1):c.133T>C (p.Ser45Pro) rs121913407
NM_001904.3(CTNNB1):c.134C>A (p.Ser45Tyr) rs121913409
NM_001904.3(CTNNB1):c.134C>T (p.Ser45Phe) rs121913409
NM_002524.3(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.3(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.3(NRAS):c.183A>T (p.Gln61His) rs121913255
NM_002524.4(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.4(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_004333.4(BRAF):c.1780G>A (p.Asp594Asn) rs397516896
NM_004333.4(BRAF):c.1780G>C (p.Asp594His) rs397516896
NM_004333.4(BRAF):c.1781A>G (p.Asp594Gly) rs121913338
NM_006218.3(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279

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