ClinVar Miner

Variants with conflicting interpretations studied for Glioblastoma

Coded as:
Minimum review status of the submission for Glioblastoma: Y axis collection method of the submission for Glioblastoma:
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
5 107 0 77 0 5 46 117

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
Glioblastoma pathogenic uncertain significance likely benign drug response
likely pathogenic 77 45 1 4
other 1 0 0 0

Condition to condition summary #

Total conditions: 72
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 14 0 19 0 0 30 48
Hereditary cancer-predisposing syndrome 0 22 0 21 0 0 13 33
not provided 0 11 0 26 0 1 5 32
Neoplasm of the large intestine 0 152 0 15 0 0 0 15
Li-Fraumeni syndrome 1 0 3 0 9 0 0 4 13
Neoplasm of the breast 0 158 0 12 0 0 0 12
Non-small cell lung cancer 0 5 0 12 0 0 0 12
Ovarian Neoplasms 0 50 0 10 0 0 0 10
Cutaneous melanoma 0 2 0 6 0 0 0 6
Acute myeloid leukemia 0 36 0 5 0 0 0 5
Carcinoma of colon 0 1 0 5 0 0 0 5
Neoplasm of ovary 0 0 0 5 0 0 0 5
Breast adenocarcinoma 0 0 0 4 0 0 0 4
PIK3CA related overgrowth spectrum 0 1 0 4 0 0 0 4
Rasopathy 0 0 0 3 0 0 1 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
Cowden syndrome 0 1 0 3 0 0 0 3
Epidermal nevus 0 0 0 3 0 0 0 3
Li-Fraumeni-like syndrome 0 0 0 3 0 0 0 3
Ovarian epithelial cancer 0 0 0 3 0 0 0 3
PTEN hamartoma tumor syndrome 0 1 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
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
Cardio-facio-cutaneous syndrome 0 0 0 2 0 0 0 2
Congenital giant melanocytic nevus 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
Cowden syndrome 5 0 0 0 2 0 0 0 2
Focal cortical dysplasia type II 0 0 0 2 0 0 0 2
Hepatocellular carcinoma 0 134 0 2 0 0 0 2
Keratosis, seborrheic 0 0 0 2 0 0 0 2
Megalencephaly cutis marmorata telangiectatica congenita 0 0 0 2 0 0 0 2
Neoplasm of stomach 0 0 0 2 0 0 0 2
Neurocutaneous melanosis 0 0 0 2 0 0 0 2
Nevus sebaceous 0 0 0 2 0 0 0 2
not specified 0 3 0 1 0 0 1 2
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
Astrocytoma, low-grade, somatic 0 0 0 1 0 0 0 1
Atypical teratoid/rhabdoid tumor 0 0 0 1 0 0 0 1
Cowden syndrome 1 0 1 0 1 0 0 0 1
Cystic epithelial invagination containing papillae lined by columnar epithelium 0 0 0 1 0 0 0 1
Encephalocraniocutaneous lipomatosis 0 0 0 1 0 0 0 1
Endometrial carcinoma 0 0 0 1 0 0 0 1
Epidermal nevus 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
Follicular thyroid carcinoma 0 0 0 1 0 0 0 1
Gastrointestinal stroma tumor 0 0 0 1 0 0 0 1
Germ cell tumor, nonseminomatous 0 0 0 1 0 0 0 1
Glioblastoma multiforme, somatic 0 0 0 1 0 0 0 1
Hemimegalencephaly 0 0 0 1 0 0 0 1
Hepatoblastoma 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
Lung cancer 0 1 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
Malignant tumor of prostate 0 1 0 0 0 0 1 1
Myopathy, congenital, with excess of muscle spindles 0 0 0 1 0 0 0 1
Nevus, woolly hair 0 0 0 1 0 0 0 1
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic 0 0 0 0 0 1 0 1
Osteosarcoma 0 0 0 1 0 0 0 1
PARP Inhibitor response 0 0 0 0 0 1 0 1
Papillary thyroid carcinoma 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
Sarcoma 0 1 0 1 0 0 0 1
Smith-Kingsmore syndrome 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 117
Download table as spreadsheet
HGVS dbSNP
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.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.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.581T>A (p.Leu194His) rs1057519998
NM_000546.5(TP53):c.581T>C (p.Leu194Pro) rs1057519998
NM_000546.5(TP53):c.581T>G (p.Leu194Arg) rs1057519998
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.646G>A (p.Val216Met) rs730882025
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.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.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.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_001123383.1(BCOR):c.3781_3782delAG (p.Leu1262Phefs) rs886042842
NM_001126115.1(TP53):c.401G>A (p.Gly134Glu) rs193920774
NM_001282386.1(IDH1):c.395G>A (p.Arg132His) rs121913500
NM_001282387.1(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_001282387.1(IDH1):c.394C>G (p.Arg132Gly) rs121913499
NM_001282387.1(IDH1):c.394C>T (p.Arg132Cys) rs121913499
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.1786G>C (p.Gly596Arg) rs121913361
NM_004333.5(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.5(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004380.2(CREBBP):c.4336C>T (p.Arg1446Cys) rs398124146
NM_004958.3(MTOR):c.4447T>C (p.Cys1483Arg) rs1057519914
NM_004958.3(MTOR):c.4448G>T (p.Cys1483Phe) rs786205165
NM_004958.3(MTOR):c.6644C>A (p.Ser2215Tyr) rs587777894
NM_004958.3(MTOR):c.6644C>T (p.Ser2215Phe) rs587777894
NM_005228.4(EGFR):c.2155G>T (p.Gly719Cys) rs28929495
NM_005228.4(EGFR):c.2156G>C (p.Gly719Ala) rs121913428
NM_005343.2(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.2(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005896.3(IDH1):c.395G>T (p.Arg132Leu) rs121913500
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.353G>A (p.Gly118Asp) rs587777790
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) rs1057519942
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_023110.2(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_176795.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229

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