ClinVar Miner

Variants with conflicting interpretations studied for Malignant neoplasm of body of uterus

Coded as:
Minimum review status of the submission for Malignant neoplasm of body of uterus: Y axis collection method of the submission for Malignant neoplasm of body of uterus:
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
0 151 4 96 0 12 45 136

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
Malignant neoplasm of body of uterus pathogenic likely pathogenic uncertain significance likely benign drug response other
likely pathogenic 96 4 44 1 6 6

Condition to condition summary #

Total conditions: 77
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 12 4 32 0 1 5 41
Li-Fraumeni syndrome 0 12 0 17 0 0 24 40
Hereditary cancer-predisposing syndrome 0 25 0 18 0 0 15 32
Neoplasm of the large intestine 0 199 0 19 0 0 0 19
Cutaneous melanoma 0 8 0 18 0 0 0 18
Non-small cell lung cancer 0 3 0 16 0 0 0 16
Neoplasm of the breast 0 174 0 13 0 0 0 13
Li-Fraumeni syndrome 1 0 2 0 7 0 0 2 9
Ovarian Neoplasms 0 52 0 9 0 0 0 9
Pilomatrixoma 0 1 0 8 0 0 0 8
Neoplasm of ovary 0 0 0 7 0 0 0 7
Breast adenocarcinoma 0 0 0 6 0 0 0 6
Carcinoma of colon 0 1 0 6 0 0 0 6
Rasopathy 0 0 0 5 0 0 1 6
Epidermal nevus 0 0 0 5 0 0 0 5
PIK3CA related overgrowth spectrum 0 1 0 5 0 0 0 5
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 0 0 0 4 0 0 0 4
Costello syndrome 0 1 0 4 0 0 0 4
Cowden syndrome 0 0 0 3 0 0 1 4
Hepatoblastoma 0 0 0 4 0 1 0 4
Hepatocellular carcinoma 0 141 0 4 0 0 0 4
Medulloblastoma 0 54 0 1 0 3 0 4
not specified 0 3 0 1 0 0 3 4
Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 0 0 0 3 0 0 0 3
Congenital giant melanocytic nevus; Epidermal nevus syndrome; Bladder cancer, somatic; Costello syndrome; Epidermal nevus; Follicular thyroid carcinoma 0 0 0 3 0 0 0 3
Nevus sebaceous 0 0 0 3 0 0 0 3
Ovarian epithelial cancer 0 0 0 3 0 0 0 3
PTEN hamartoma tumor syndrome 0 0 0 1 0 0 2 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
Congenital giant melanocytic nevus 0 0 0 2 0 0 0 2
Cowden syndrome 5 0 0 0 2 0 0 0 2
Endometrial carcinoma 0 0 0 2 0 0 0 2
Epidermal nevus syndrome 0 0 0 2 0 0 0 2
Focal cortical dysplasia type II 0 0 0 2 0 0 0 2
Follicular thyroid carcinoma 0 0 0 2 0 0 0 2
Keratosis, seborrheic 0 0 0 2 0 0 0 2
Malignant tumor of prostate 0 1 0 0 0 0 2 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
Neoplasm of the thyroid gland 0 18 0 2 0 0 0 2
Neurocutaneous melanosis 0 0 0 2 0 0 0 2
Noonan syndrome 0 0 0 2 0 0 0 2
PARP Inhibitor response 0 0 0 0 0 2 0 2
ADRENAL CORTICAL NEOPLASM 0 0 0 0 0 1 0 1
Acrocephalosyndactyly type I 0 0 0 1 0 0 0 1
Acrocephalosyndactyly type I; Cutis Gyrata syndrome of Beare and Stevenson; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Scaphocephaly, maxillary retrusion, and mental retardation; Neoplasm of stomach; Bent bone dysplasia syndrome 0 0 0 1 0 0 0 1
Adenoid cystic carcinoma 0 27 0 0 0 0 1 1
Anaplastic thyroid carcinoma 0 0 0 1 0 0 0 1
Anti-PDL1 response 0 0 0 0 0 1 0 1
Astrocytoma, anaplastic; Pleomorphic xanthoastrocytoma 0 0 0 1 0 0 0 1
Cardio-facio-cutaneous syndrome 0 0 0 1 0 0 0 1
Colorectal cancer, susceptibility to, 12 0 0 0 0 0 0 1 1
Cowden syndrome 1 0 0 0 1 0 0 0 1
Desmoid tumor, somatic 0 0 0 1 0 0 0 1
Epidermal nevus with urothelial cancer, somatic 0 0 0 1 0 0 0 1
FGFR2 related craniosynostosis 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
Histone Methylation Therapy response 0 0 0 0 0 1 0 1
Inborn genetic diseases 0 1 0 1 0 0 0 1
Juvenile myelomonocytic leukemia 0 0 0 1 0 0 0 1
Li-Fraumeni-like syndrome 0 0 0 1 0 0 0 1
Lung adenocarcinoma 0 193 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 1 0 1 0 0 0 1
Mental retardation, autosomal dominant 36 0 1 0 1 0 0 0 1
Myelodysplastic syndrome progressed to acute myeloid leukemia 0 0 0 1 0 0 0 1
Myopathy, congenital, with excess of muscle spindles 0 0 0 1 0 0 0 1
NEVUS SPILUS, SOMATIC 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
RAS Inhibitor response 0 0 0 0 0 1 0 1
Rosette-forming glioneuronal tumor 0 0 0 1 0 0 0 1
SPITZ NEVUS, SOMATIC 0 0 0 1 0 0 0 1
Sarcoma 0 1 0 1 0 0 0 1
Wilms Tumor 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 136
Download table as spreadsheet
HGVS dbSNP
NM_000141.4(FGFR2):c.1144T>C (p.Cys382Arg) rs121913474
NM_000141.4(FGFR2):c.1645A>C (p.Asn549His) rs1057519045
NM_000314.4(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000314.6(PTEN):c.388C>G (p.Arg130Gly) rs121909224
NM_000314.6(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.6(PTEN):c.698G>A (p.Arg233Gln) rs770025422
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000546.5(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_000546.5(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_000546.5(TP53):c.431A>C (p.Gln144Pro) rs786203071
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.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.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.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.658T>C (p.Tyr220His) rs530941076
NM_000546.5(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_000546.5(TP53):c.659A>G (p.Tyr220Cys) rs121912666
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.715A>G (p.Asn239Asp) rs876660807
NM_000546.5(TP53):c.716A>C (p.Asn239Thr) rs1057519999
NM_000546.5(TP53):c.722C>T (p.Ser241Phe) rs28934573
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.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.797G>T (p.Gly266Val) rs193920774
NM_000546.5(TP53):c.814G>A (p.Val272Met) rs121912657
NM_000546.5(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000546.5(TP53):c.815T>G (p.Val272Gly) rs876660333
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.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.842A>G (p.Asp281Gly) rs587781525
NM_000546.5(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_000546.5(TP53):c.843C>G (p.Asp281Glu) rs1057519984
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_001005862.2(ERBB2):c.2173_2174delTTinsCC (p.Leu725Pro) rs121913469
NM_001126115.1(TP53):c.401G>A (p.Gly134Glu) rs193920774
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.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.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_001904.3(CTNNB1):c.94G>T (p.Asp32Tyr) rs28931588
NM_001904.3(CTNNB1):c.95A>G (p.Asp32Gly) rs121913396
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_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_002524.3(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.3(NRAS):c.34G>C (p.Gly12Arg) rs121913250
NM_002524.3(NRAS):c.34G>T (p.Gly12Cys) rs121913250
NM_002524.3(NRAS):c.35G>A (p.Gly12Asp) rs121913237
NM_002524.3(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_002524.4(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.4(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002524.4(NRAS):c.35G>C (p.Gly12Ala) rs121913237
NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002755.3(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_004333.4(BRAF):c.1802A>C (p.Lys601Thr) rs397507484
NM_004333.5(BRAF):c.1801A>G (p.Lys601Glu) rs121913364
NM_004448.3(ERBB2):c.2524G>A (p.Val842Ile) rs1057519738
NM_004958.3(MTOR):c.6644C>A (p.Ser2215Tyr) rs587777894
NM_004958.3(MTOR):c.6644C>T (p.Ser2215Phe) rs587777894
NM_005343.2(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.2(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.2(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_005343.3(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
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.1636C>G (p.Gln546Glu) rs121913286
NM_006218.3(PIK3CA):c.1637A>T (p.Gln546Leu) rs397517201
NM_006218.3(PIK3CA):c.3129G>A (p.Met1043Ile) rs121913283
NM_006218.3(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.3(PIK3CA):c.317G>T (p.Gly106Val) rs1057519930
NM_006218.3(PIK3CA):c.353G>A (p.Gly118Asp) rs587777790
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) rs1057519942
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
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.1636C>A (p.Gln546Lys) rs121913286
NM_006218.4(PIK3CA):c.1637A>C (p.Gln546Pro) rs397517201
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) rs397517201
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006231.3(POLE):c.857C>G (p.Pro286Arg) rs1057519943
NM_014225.5(PPP2R1A):c.536C>T (p.Pro179Leu) rs786205228
NM_022970.3(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_033360.3(KRAS):c.183A>T (p.Gln61His) rs17851045
NM_033632.3(FBXW7):c.1514G>A (p.Arg505His) rs1057519896
NM_176795.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229

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