Total 24 pathogenic variants reported for Glioblastoma

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)	SNV Germline/somatic	Chr17:7674230	Pathogenic	Li-fraumeni-like syndrome Adenocarcinoma Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Atypical teratoid rhabdoid tumor Astrocytoma, anaplastic Ovarian neoplasm Colorectal cancer Familial ovarian cancer Breast carcinoma Malignant tumor of urinary bladder Adrenocortical carcinoma, hereditary 12 conditions TP53-related disorder Gastric cancer See cases IDH-wildtype glioblastoma Neoplasm Medulloblastoma WNT activated Rhabdomyosarcoma	Reviewed By Expert Panel	CA000367	rs_28934575	36 SubmittersRCV000013162 RCV000148909 RCV000154014 RCV000130147 RCV000144669 RCV000226657 RCV000587017 RCV000588736 RCV000785316 RCV001270274 RCV001354825 RCV001642222 RCV003332080 RCV003460464 RCV002496337 RCV003914832 RCV003162245 RCV004797759 RCV006253495 RCV006273052 RCV006253494 RCV006253493
NM_000546.6(TP53):c.524G>A (p.Arg175His)	SNV Germline/somatic	Chr17:7675088	Pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Neoplasm Malignant tumor of esophagus Colorectal cancer Ovarian neoplasm Gastric cancer 12 conditions Adrenocortical carcinoma, hereditary Lip and oral cavity carcinoma Squamous cell carcinoma of the head and neck TP53-related disorder Familial cancer of breast Astrocytoma IDH-mutant Diffuse midline glioma, H3 K27M-mutant Medulloblastoma SHH activated and TP53 mutant Undifferentiated embryonal sarcoma of the liver Neuroblastoma IDH-wildtype glioblastoma Small intestine adenocarcinoma	Reviewed By Expert Panel	CA000251	rs_28934578	35 SubmittersRCV000013173 RCV000131301 RCV000204931 RCV000213054 RCV000421746 RCV000239398 RCV001270269 RCV000785352 RCV003162247 RCV002476956 RCV003466854 RCV001255668 RCV001270268 RCV004797760 RCV001527463 RCV006253502 RCV006253503 RCV006253504 RCV006253506 RCV006253501 RCV006253505 RCV006253507
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)	SNV Germline/somatic	Chr3:179218303	Pathogenic/Likely pathogenic	Carcinoma of colon Seborrheic keratosis Breast adenocarcinoma OVARIAN CANCER, EPITHELIAL, SOMATIC Non-small cell lung carcinoma Megalencephaly-capillary malformation-polymicrogyria syndrome Sarcoma Ovarian neoplasm Condition: not provided Abnormal cardiovascular system morphology CLOVES syndrome Cerebrofacial Vascular Metameric Syndrome (CVMS) PIK3CA related overgrowth syndrome Segmental undergrowth associated with lymphatic malformation Gallbladder cancer Eccrine angiomatous hamartoma Gastric cancer HEMIFACIAL MYOHYPERPLASIA, SOMATIC Angioosteohypertrophic syndrome Rare venous malformation Rare combined vascular malformation Neoplasm PIK3CA overgrowth syndrome PIK3CA-related disorder Medulloblastoma WNT activated IDH-wildtype glioblastoma Rosette-forming glioneuronal tumor Cervical squamous cell carcinoma Adenocarcinoma of the large intestine Embryonal rhabdomyosarcoma Lymphatic malformation Congenital fibrosarcoma Cerebral cavernous malformation	Criteria Provided Multiple Submitters No Conflicts	CA123334	rs_104886003	22 SubmittersRCV000014633 RCV000014636 RCV000014631 RCV000014632 RCV000038671 RCV000055930 RCV000119356 RCV000422210 RCV001092440 RCV001327963 RCV001262721 RCV001730473 RCV001290591 RCV001705591 RCV001374447 RCV001786329 RCV002508125 RCV003764575 RCV004527293 RCV004527294 RCV004527295 RCV004668729 RCV004698419 RCV005867755 RCV006253573 RCV006253575 RCV006253570 RCV006456614 RCV006253574 RCV006253571 RCV006253569 RCV006253572 RCV006253568
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)	SNV Germline/somatic	Chr7:140753336	Conflicting classifications of pathogenicity	Carcinoma of colon Papillary thyroid carcinoma Astrocytoma, low-grade, somatic Nongerminomatous germ cell tumor Melanoma Non-small cell lung carcinoma Condition: not provided Cardio-facio-cutaneous syndrome Multiple myeloma Neoplasm Cystic epithelial invagination containing papillae lined by columnar epithelium Colorectal cancer Cerebral arteriovenous malformation Malignant neoplastic disease Nephroblastoma Lymphangioma Vascular malformation Cardiovascular phenotype RASopathy Embryonal rhabdomyosarcoma Spindle cell sarcoma Dysembryoplastic neuroepithelial tumor Pilocytic astrocytoma Thyroid gland undifferentiated (anaplastic) carcinoma Pleomorphic xanthoastrocytoma Ganglioglioma Malignant glioma Epithelioid Glioblastoma Malignant peripheral nerve sheath tumor IDH-wildtype glioblastoma Diffuse leptomeningeal glioneuronal tumor Polymorphous low grade neuroepithelial tumor of the young Benign metanephric tumor Alveolar rhabdomyosarcoma Nodular ganglioneuroblastoma Diffuse low-grade glioma, MAPK pathway–altered Neuroblastoma Diffuse midline glioma, H3 K27M-mutant	Criteria Provided Conflicting Classifications	CA123643	rs_113488022	21 SubmittersRCV000014992 RCV000014993 RCV000014994 RCV000022677 RCV000067669 RCV000037936 RCV000080903 RCV000208763 RCV000430562 RCV000443448 RCV000662278 RCV001030023 RCV000860020 RCV001254874 RCV001248834 RCV002051586 RCV003458334 RCV004018627 RCV005089260 RCV005630703 RCV005630704 RCV006253613 RCV006253599 RCV004719648 RCV006253602 RCV006253603 RCV006253604 RCV005630705 RCV006253606 RCV006253607 RCV006253608 RCV006253610 RCV006253612 RCV006253601 RCV006253609 RCV006253611 RCV006253600 RCV006253605
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)	SNV Germline/somatic	Chr3:179210192	Pathogenic	CLOVES syndrome Ovarian neoplasm PIK3CA related overgrowth syndrome CLAPO syndrome Abnormal cardiovascular system morphology Segmental undergrowth associated with lymphatic malformation Capillary malformation Condition: not provided Rare combined vascular malformation Cowden syndrome Neoplasm Colorectal cancer Neuroblastoma Medulloblastoma WNT activated IDH-wildtype glioblastoma Immature ovarian teratoma Colon adenocarcinoma PIK3CA-related disorder Diffuse midline glioma, H3 K27M-mutant	Criteria Provided Multiple Submitters No Conflicts	CA180900	rs_121913272	18 SubmittersRCV000024623 RCV000154512 RCV000201232 RCV000709694 RCV001327960 RCV001705599 RCV001526612 RCV002054475 RCV004527297 RCV003588566 RCV004668743 RCV005603590 RCV006253688 RCV006253690 RCV006253691 RCV006253692 RCV006253687 RCV005867798 RCV006253689
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)	SNV Germline/somatic	Chr17:31225134	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 not specified Neurofibromatosis, type 1 Tibial pseudarthrosis Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, type 1 Gastric cancer NF1-related disorder Pilocytic astrocytoma Giant cell glioblastoma Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA165914	rs_199474738	29 SubmittersRCV000059160 RCV000130191 RCV000206280 RCV000506837 RCV001009575 RCV001535533 RCV003162463 RCV004549489 RCV006253759 RCV006253760 RCV006273091
NM_005896.4(IDH1):c.395G>A (p.Arg132His)	SNV Germline/somatic	Chr2:208248388	Pathogenic/Likely pathogenic	Glioblastoma multiforme, somatic Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Condition: not provided Glioma susceptibility 1 Enchondromatosis Metaphyseal chondromatosis Neoplasm Acute myeloid leukemia with NPM1 somatic mutations Astrocytoma IDH-mutant Oligodendroglioma	Criteria Provided Multiple Submitters No Conflicts	CA170874	rs_121913500	12 SubmittersRCV000144504 RCV000853347 RCV001269510 RCV001542733 RCV002227447 RCV003387509 RCV004668802 RCV006253824 RCV006253823 RCV006253822
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)	SNV Germline/somatic	Chr17:31261733	Pathogenic/Likely pathogenic	Neurofibromatosis, type 1 Condition: not provided Thoracic scoliosis Subcutaneous neurofibroma Cafe au lait spots, multiple Hereditary cancer-predisposing syndrome Tibial pseudarthrosis Neurofibromatosis, type 1 Abnormality of the skin Gastric cancer Café-au-lait macules with pulmonary stenosis Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Neoplasm Giant cell glioblastoma Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA350085	rs_760703505	38 SubmittersRCV000206013 RCV000255589 RCV000415187 RCV000492716 RCV001009595 RCV001814116 RCV003165492 RCV004798810 RCV005016564 RCV006273632 RCV006253890 RCV006342174
NM_000546.6(TP53):c.329G>C (p.Arg110Pro)	SNV Germline/somatic	Chr17:7676040	Pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary Familial cancer of breast IDH-wildtype glioblastoma Astrocytoma, IDH-mutant, grade 3 Neoplasm	Reviewed By Expert Panel	CA10580948	rs_11540654	9 SubmittersRCV000222678 RCV000231991 RCV002288889 RCV003462528 RCV004698486 RCV006253917 RCV006253918 RCV006273660
NM_000546.6(TP53):c.473G>C (p.Arg158Pro)	SNV Germline/somatic	Chr17:7675139	Pathogenic	Condition: not provided Li-Fraumeni syndrome Squamous cell carcinoma of the head and neck Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome IDH-wildtype glioblastoma Neoplasm	Reviewed By Expert Panel	CA10584592	rs_587782144	9 SubmittersRCV000236862 RCV000548853 RCV000989719 RCV002288931 RCV002288932 RCV006253926 RCV006273689
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln)	SNV Germline/somatic	Chr3:179199088	Pathogenic	Ovarian neoplasm Cowden syndrome Condition: not provided PIK3CA related overgrowth syndrome Abnormal cerebral morphology Megalencephaly-capillary malformation-polymicrogyria syndrome Neoplasm CLOVES syndrome Cowden syndrome 5 Pilocytic astrocytoma Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Medulloblastoma WNT activated Giant cell glioblastoma	Criteria Provided Multiple Submitters No Conflicts	CA16602516	rs_121913287	12 SubmittersRCV000785354 RCV001224952 RCV001562650 RCV002274026 RCV002275002 RCV003225067 RCV004668930 RCV004767253 RCV003995942 RCV006253972 RCV006253973 RCV006253974 RCV006253975
NM_181523.3(PIK3R1):c.1690A>G (p.Asn564Asp)	SNV Somatic	Chr5:68295269	Pathogenic	Vascular Malformations and Overgrowth Vascular malformation IDH-wildtype glioblastoma Neoplasm	Criteria Provided Single Submitter	CA16602710	rs_1057519841	3 SubmittersRCV001290352 RCV003458427 RCV006253995 RCV006273726
NM_000489.6(ATRX):c.6887A>G (p.Asn2296Ser)	SNV Germline/somatic	ChrX:77522351	Conflicting classifications of pathogenicity	Inborn genetic diseases Acquired hemoglobin H disease Alpha thalassemia-X-linked intellectual disability syndrome Intellectual disability-hypotonic facies syndrome, X-linked, 1 Alpha thalassemia-X-linked intellectual disability syndrome IDH-wildtype glioblastoma	Criteria Provided Conflicting Classifications	CA10457446	rs_782274478	4 SubmittersRCV000623676 RCV000764878 RCV001438668 RCV006254113
NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter)	SNV Germline	Chr11:108345859	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Glioblastoma Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA382518376	rs_1555138291	7 SubmittersRCV000671076 RCV000722036 RCV000991563 RCV003465507 RCV005732160
NM_000222.3(KIT):c.1861G>A (p.Ala621Thr)	SNV Germline/somatic	Chr4:54727909	Pathogenic/Likely pathogenic	Gastrointestinal stromal tumor Piebaldism IDH-wildtype glioblastoma	Criteria Provided Multiple Submitters No Conflicts	CA356908197	rs_1560418178	3 SubmittersRCV000685166 RCV004819229 RCV006254136
NM_022552.5(DNMT3A):c.2710C>T (p.Pro904Ser)	SNV Somatic	Chr2:25234308	Likely pathogenic	Glioblastoma	No Assertion Criteria Provided	CA346068047	rs_1558650888	1 SubmittersRCV000785978
NM_198253.3(TERT):c.-124C>T	SNV Germline/somatic	Chr5:1295113	Conflicting classifications of pathogenicity	Melanoma, cutaneous malignant, susceptibility to, 1 Condition: not provided not specified Malignant tumor of urinary bladder Dyskeratosis congenita, autosomal dominant 2 Neoplasm Sertoli-Leydig cell tumor oligodendroglioma, 1p 19q codeleted Desmoplastic small round cell tumor Malignant glioma Metastatic melanoma Medulloblastoma WNT activated Adenocarcinoma of the large intestine Medulloblastoma SHH activated Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Diffuse midline glioma, H3 K27M-mutant Juvenile type testicular granulosa cell tumor Calcifying nested epithelial stromal tumor of the liver Atypical teratoid rhabdoid tumor Neuroblastoma IDH-wildtype glioblastoma Hepatosplenic T-cell lymphoma Ovarian sex cord-stromal tumor Squamous cell carcinoma of the skin Pleomorphic xanthoastrocytoma	Criteria Provided Conflicting Classifications	CA557858711	rs_1242535815	9 SubmittersRCV001728078 RCV002073409 RCV002223145 RCV003332346 RCV003470881 RCV004671424 RCV006254295 RCV006254297 RCV006254286 RCV006254288 RCV006254291 RCV006254292 RCV006254293 RCV006254294 RCV006254289 RCV006254290 RCV006254296 RCV006254298 RCV006254287 RCV006254283 RCV006254299 RCV006254300 RCV006254301 RCV006254284 RCV006254285
NM_000314.8(PTEN):c.275A>T (p.Asp92Val)	SNV Germline/somatic	Chr10:87933034	Pathogenic	Hereditary cancer-predisposing syndrome Giant cell glioblastoma	Criteria Provided Single Submitter	CA377482086	rs_1114167623	2 SubmittersRCV002439466 RCV006254335