ClinVar Miner

Variants with conflicting interpretations studied for Carcinoma of esophagus

Coded as:
Minimum review status of the submission for Carcinoma of esophagus: Y axis collection method of the submission for Carcinoma of esophagus:
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
0 106 1 65 1 5 63 122

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
Carcinoma of esophagus pathogenic likely pathogenic uncertain significance likely benign benign drug response other
likely pathogenic 64 1 62 1 0 3 2
likely benign 0 0 1 0 1 0 0

Condition to condition summary #

Total conditions: 61
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 16 0 21 0 0 47 67
Hereditary cancer-predisposing syndrome 0 35 0 22 0 0 16 37
not provided 0 16 1 23 0 0 6 30
Li-Fraumeni syndrome 1 0 3 0 8 0 0 5 13
Neoplasm of the large intestine 0 166 0 10 0 0 0 10
Neoplasm of the breast 0 175 0 9 0 0 0 9
Non-small cell lung cancer 0 1 0 7 0 0 0 7
Ovarian Neoplasms 0 62 0 6 0 0 0 6
not specified 0 3 0 2 0 0 4 6
Breast adenocarcinoma 0 0 0 5 0 0 0 5
Neoplasm of ovary 0 0 0 5 0 0 0 5
Carcinoma of colon 0 1 0 4 0 0 0 4
Pilomatrixoma 0 0 0 4 0 0 0 4
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 0 0 0 3 0 0 0 3
Costello syndrome 0 0 0 3 0 0 0 3
JP and JP/HHT 0 0 0 3 0 0 0 3
Li-Fraumeni-like syndrome 0 0 0 3 0 0 0 3
PIK3CA related overgrowth spectrum 0 0 0 3 0 0 0 3
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 2 0 0 0 2
Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 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
Cutaneous melanoma 0 1 0 2 0 0 0 2
Epidermal nevus 0 0 0 2 0 0 0 2
Hepatocellular carcinoma 0 156 0 2 0 0 0 2
Juvenile polyposis syndrome 0 1 0 2 0 0 0 2
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 0 0 0 2 0 0 0 2
Keratosis, seborrheic 0 0 0 2 0 0 0 2
Malignant tumor of prostate 0 0 0 0 0 0 2 2
Medulloblastoma 0 36 0 1 0 1 0 2
Megalencephaly cutis marmorata telangiectatica congenita 0 0 0 2 0 0 0 2
Neoplasm of stomach 0 2 0 2 0 0 0 2
Nevus sebaceous 0 0 0 2 0 0 0 2
Ovarian epithelial cancer 0 0 0 2 0 0 0 2
PARP Inhibitor response 0 0 0 0 0 2 0 2
Rasopathy 0 0 0 2 0 0 0 2
ADRENAL CORTICAL NEOPLASM 0 0 0 0 0 1 0 1
Adenoid cystic carcinoma 0 17 0 0 0 0 1 1
Anaplastic thyroid carcinoma 0 0 0 1 0 0 0 1
Astrocytoma, anaplastic 0 0 0 1 0 0 0 1
Astrocytoma, anaplastic; Pleomorphic xanthoastrocytoma 0 0 0 1 0 0 0 1
Atypical teratoid/rhabdoid tumor 0 0 0 1 0 0 0 1
Breast-ovarian cancer, familial 2 0 0 0 1 1 0 0 1
Cowden syndrome 0 0 0 1 0 0 0 1
Epidermal nevus with urothelial cancer, somatic 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
Hepatoblastoma 0 0 0 1 0 0 0 1
Hereditary breast and ovarian cancer syndrome 0 0 0 1 1 0 0 1
Histone Methylation Therapy response 0 0 0 0 0 1 0 1
Inborn genetic diseases 0 1 0 1 0 0 0 1
JP, JP/HHT, and HHT 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 Colorectal Neoplasm 0 0 0 1 0 0 0 1
Myhre syndrome; Juvenile polyposis syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Carcinoma of pancreas 0 0 0 1 0 0 0 1
Myopathy, congenital, with excess of muscle spindles 0 0 0 1 0 0 0 1
Nasopharyngeal carcinoma 0 0 0 1 0 0 0 1
Nevus, woolly hair 0 0 0 1 0 0 0 1
Osteosarcoma 0 0 0 1 0 0 0 1
Pectus excavatum; Acute myeloid leukemia; Short stature; Cognitive impairment; Webbed neck; Pancytopenia; Abnormality of the tongue 0 0 0 1 0 0 0 1
Rosette-forming glioneuronal tumor 0 0 0 1 0 0 0 1
Sarcoma 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 122
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.3445A>G (p.Met1149Val) rs80358589
NM_000141.4(FGFR2):c.1144T>C (p.Cys382Arg) rs121913474
NM_000546.5(TP53):c.332T>C (p.Leu111Pro) rs1057519997
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.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.487T>A (p.Tyr163Asn) rs786203436
NM_000546.5(TP53):c.488A>G (p.Tyr163Cys) rs148924904
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.523C>G (p.Arg175Gly) rs138729528
NM_000546.5(TP53):c.523C>T (p.Arg175Cys) rs138729528
NM_000546.5(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_000546.5(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.5(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.5(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.5(TP53):c.535C>T (p.His179Tyr) rs587780070
NM_000546.5(TP53):c.536A>G (p.His179Arg) rs1057519991
NM_000546.5(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.5(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.5(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_000546.5(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.5(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_000546.5(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_000546.5(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_000546.5(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
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.641A>G (p.His214Arg) rs1057519992
NM_000546.5(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.5(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_000546.5(TP53):c.646G>A (p.Val216Met) rs730882025
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.709A>G (p.Met237Val) rs730882004
NM_000546.5(TP53):c.711G>A (p.Met237Ile) rs587782664
NM_000546.5(TP53):c.712T>C (p.Cys238Arg) rs1057519981
NM_000546.5(TP53):c.713G>A (p.Cys238Tyr) rs730882005
NM_000546.5(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_000546.5(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.5(TP53):c.724T>A (p.Cys242Ser) rs1057519982
NM_000546.5(TP53):c.724T>G (p.Cys242Gly) rs1057519982
NM_000546.5(TP53):c.725G>A (p.Cys242Tyr) rs121912655
NM_000546.5(TP53):c.725G>T (p.Cys242Phe) rs121912655
NM_000546.5(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_000546.5(TP53):c.730G>T (p.Gly244Cys) rs1057519989
NM_000546.5(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_000546.5(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_000546.5(TP53):c.733G>C (p.Gly245Arg) rs28934575
NM_000546.5(TP53):c.733G>T (p.Gly245Cys) rs28934575
NM_000546.5(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.5(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.745A>G (p.Arg249Gly) rs587782082
NM_000546.5(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_000546.5(TP53):c.746G>A (p.Arg249Lys) rs587782329
NM_000546.5(TP53):c.746G>T (p.Arg249Met) rs587782329
NM_000546.5(TP53):c.764T>A (p.Ile255Asn) rs876659675
NM_000546.5(TP53):c.764T>C (p.Ile255Thr) rs876659675
NM_000546.5(TP53):c.797G>T (p.Gly266Val) rs193920774
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_000546.5(TP53):c.832C>A (p.Pro278Thr) rs17849781
NM_000546.5(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.5(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.5(TP53):c.833C>A (p.Pro278His) rs876659802
NM_000546.5(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_000546.5(TP53):c.833C>T (p.Pro278Leu) rs876659802
NM_000546.5(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.5(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_000546.5(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_000546.5(TP53):c.844C>G (p.Arg282Gly) rs28934574
NM_000546.5(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.5(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.5(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_000546.5(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_001005862.2(ERBB2):c.2215G>T (p.Asp739Tyr) rs121913468
NM_001126115.1(TP53):c.401G>A (p.Gly134Glu) rs193920774
NM_001126115.1(TP53):c.443G>T (p.Arg148Ile) rs121912660
NM_001904.3(CTNNB1):c.110C>A (p.Ser37Tyr) rs121913403
NM_001904.3(CTNNB1):c.110C>G (p.Ser37Cys) rs121913403
NM_001904.3(CTNNB1):c.110C>T (p.Ser37Phe) rs121913403
NM_001904.3(CTNNB1):c.98C>A (p.Ser33Tyr) rs121913400
NM_001904.3(CTNNB1):c.98C>G (p.Ser33Cys) rs121913400
NM_001904.3(CTNNB1):c.98C>T (p.Ser33Phe) rs121913400
NM_004448.3(ERBB2):c.2305G>C (p.Asp769His) rs121913468
NM_004985.4(KRAS):c.351A>C (p.Lys117Asn) rs770248150
NM_005228.4(EGFR):c.2303G>T (p.Ser768Ile) rs121913465
NM_005343.2(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.2(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005359.5(SMAD4):c.1081C>G (p.Arg361Gly) rs80338963
NM_005359.5(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.5(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.5(SMAD4):c.1157G>A (p.Gly386Asp) rs121912580
NM_006218.3(PIK3CA):c.1633G>C (p.Glu545Gln) rs104886003
NM_006218.3(PIK3CA):c.1634A>C (p.Glu545Ala) rs121913274
NM_006218.3(PIK3CA):c.1634A>G (p.Glu545Gly) rs121913274
NM_006218.3(PIK3CA):c.1635G>T (p.Glu545Asp) rs121913275
NM_006218.3(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1624G>C (p.Glu542Gln) rs121913273
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_033632.3(FBXW7):c.1514G>A (p.Arg505His) rs1057519896
NM_176795.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229

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