Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_004985.5(KRAS):c.34G>T (p.Gly12Cys)	SNV Germline/somatic	Chr12:25245351	Likely pathogenic	Lung carcinoma Non-small cell lung carcinoma Endometrial carcinoma Lung adenocarcinoma Gallbladder cancer Condition: not provided RASopathy Lung cancer Neoplasm Adenocarcinoma of the large intestine Embryonal rhabdomyosarcoma Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Ovarian mucinous adenocarcinoma	Criteria Provided Single Submitter	CA122528	rs_121913530	10 SubmittersRCV000013406 RCV000038265 RCV000119791 RCV000431049 RCV001292543 RCV001355787 RCV003654176 RCV003996092 RCV004668721 RCV006253513 RCV006253511 RCV006253512 RCV006253514
NM_004985.5(KRAS):c.34G>C (p.Gly12Arg)	SNV Germline/somatic	Chr12:25245351	Pathogenic/Likely pathogenic	Squamous cell lung carcinoma Malignant tumor of urinary bladder Non-small cell lung carcinoma Condition: not provided RASopathy Neoplasm Adenoid cystic carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA122531	rs_121913530	7 SubmittersRCV000013407 RCV000013408 RCV000154401 RCV001356365 RCV002513010 RCV004668722 RCV004813033
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)	SNV Germline/somatic	Chr12:25245347	Pathogenic	Breast adenocarcinoma Non-small cell lung carcinoma Juvenile myelomonocytic leukemia Autoimmune lymphoproliferative syndrome type 4 OCULOECTODERMAL SYNDROME, SOMATIC Condition: not provided Nevus sebaceous Inborn genetic diseases Noonan syndrome and Noonan-related syndrome RASopathy Encephalocraniocutaneous lipomatosis Neoplasm Familial pancreatic carcinoma KRAS-related disorder Colorectal cancer Melanoma Acute myeloid leukemia Malignant tumor of urinary bladder Cervical cancer Adenocarcinoma of the large intestine Embryonal rhabdomyosarcoma Diffuse midline glioma, H3 K27M-mutant	Criteria Provided Multiple Submitters No Conflicts	CA122534	rs_112445441	18 SubmittersRCV000013409 RCV000038269 RCV000144967 RCV000144968 RCV000791297 RCV001092389 RCV001526657 RCV001266168 RCV001813183 RCV001857340 RCV001839444 RCV004668723 RCV004813034 RCV004549358 RCV005887482 RCV005887483 RCV005887479 RCV005887480 RCV005887481 RCV006253517 RCV006253515 RCV006253516
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)	SNV Germline/somatic	Chr12:25245350	Pathogenic/Likely pathogenic	Carcinoma of pancreas Epidermal nevus Nevus sebaceous Linear nevus sebaceous syndrome Juvenile myelomonocytic leukemia Autoimmune lymphoproliferative syndrome type 4 Non-small cell lung carcinoma Ovarian neoplasm Condition: not provided Acute myeloid leukemia RASopathy Cerebral arteriovenous malformation Vascular Tumors Including Pyogenic Granuloma Primary low grade serous adenocarcinoma of ovary Capillary malformation-arteriovenous malformation 1 Encephalocraniocutaneous lipomatosis Gastric cancer Atypical endometrial hyperplasia Endometrial hyperplasia without atypia Cardiovascular phenotype Congenital Pulmonary Airway Malformations Neoplasm 12 conditions Adenocarcinoma of the large intestine Ovarian mucinous adenocarcinoma Precursor B-cell acute lymphoblastic leukemia Diffuse midline glioma, H3 K27M-mutant Embryonal rhabdomyosarcoma Papillary thyroid carcinoma Alveolar rhabdomyosarcoma Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Colorectal cancer Medulloblastoma non-WNT/non-SHH Glioma	Criteria Provided Multiple Submitters No Conflicts	CA122538	rs_121913529	27 SubmittersRCV000013411 RCV000022799 RCV000029214 RCV000029215 RCV000144969 RCV000144970 RCV000150896 RCV000150897 RCV000272938 RCV000433573 RCV000548006 RCV000585796 RCV000662266 RCV000856666 RCV001799604 RCV001839445 RCV002508117 RCV003327361 RCV004018620 RCV004554600 RCV004668724 RCV005007840 RCV006253525 RCV006253527 RCV006253518 RCV006253524 RCV006253522 RCV006253519 RCV006253520 RCV006253523 RCV006250158 RCV006253526 RCV006253521
NM_004985.5(KRAS):c.35G>T (p.Gly12Val)	SNV Germline/somatic	Chr12:25245350	Pathogenic	Carcinoma of pancreas Nevus sebaceous Condition: not provided Juvenile myelomonocytic leukemia Non-small cell lung carcinoma Cerebral arteriovenous malformation Chronic myelogenous leukemia, BCR-ABL1 positive Lung sarcomatoid carcinoma Linear nevus sebaceous syndrome RASopathy Neoplasm Colorectal cancer Ovarian mucinous adenocarcinoma Adenocarcinoma of the large intestine Germinoma	Criteria Provided Multiple Submitters No Conflicts	CA122540	rs_121913529	14 SubmittersRCV000013413 RCV000029216 RCV000157944 RCV000150895 RCV000154262 RCV000585801 RCV002291496 RCV003322589 RCV003455987 RCV003539760 RCV004668725 RCV006250159 RCV006253530 RCV006253529 RCV006253528
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser)	SNV Germline/somatic	Chr12:25245351	Pathogenic	Gastric cancer Non-small cell lung carcinoma Ovarian neoplasm Juvenile myelomonocytic leukemia Condition: not provided RASopathy Neoplasm Vascular malformation Cardiofaciocutaneous syndrome 2 Rhabdomyosarcoma Neuroblastoma	Criteria Provided Multiple Submitters No Conflicts	CA135565	rs_121913530	12 SubmittersRCV000013414 RCV000038264 RCV000119790 RCV000144971 RCV000782191 RCV001851824 RCV004668726 RCV004562205 RCV004795403 RCV006253532 RCV006253531
NM_004985.5(KRAS):c.37G>C (p.Gly13Arg)	SNV Somatic	Chr12:25245348	Pathogenic	Pilocytic astrocytoma Non-small cell lung carcinoma Condition: not provided	Criteria Provided Single Submitter	CA122542	rs_121913535	4 SubmittersRCV000013424 RCV000038267 RCV001357137
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	SNV Germline/somatic	Chr3:179234297	Pathogenic	Carcinoma of colon Hepatocellular carcinoma Non-small cell lung carcinoma Seborrheic keratosis Breast adenocarcinoma OVARIAN CANCER, EPITHELIAL, SOMATIC CLOVES syndrome Ovarian neoplasm PIK3CA related overgrowth syndrome Neoplasm Rosette-forming glioneuronal tumor MACRODACTYLY, SOMATIC Condition: not provided Lip and oral cavity carcinoma Abnormal cardiovascular system morphology CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC CLAPO syndrome Cerebrofacial Vascular Metameric Syndrome (CVMS) Megalencephaly-capillary malformation-polymicrogyria syndrome Congenital macrodactylia Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Segmental undergrowth associated with mainly venous malformation with capillary component Segmental undergrowth associated with lymphatic malformation Gastric cancer Breast carcinoma Klippel-Trenaunay-like-Syndrome Rare venous malformation PIK3CA-related disorder Rare combined vascular malformation PIK3CA-Related Overgrowth Spectrum Disorders Nasopharyngeal carcinoma Diffuse midline glioma, H3 K27M-mutant Cervical squamous cell carcinoma Diffuse glioma, H3 G34 mutant Glioma Neuroblastoma Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Colorectal cancer Adenoid cystic carcinoma Cavernous lymphangioma Embryonal rhabdomyosarcoma	Reviewed By Expert Panel	CA123326	rs_121913279	33 SubmittersRCV000014624 RCV000014626 RCV000014627 RCV000014628 RCV000014622 RCV000014623 RCV000024621 RCV000154516 RCV000201231 RCV000438435 RCV000487449 RCV000709691 RCV001092442 RCV001255686 RCV001327968 RCV001728091 RCV001729349 RCV001730472 RCV001807727 RCV001526648 RCV001836707 RCV001705589 RCV001705590 RCV002508124 RCV003128082 RCV003325939 RCV004527290 RCV004737153 RCV004527291 RCV005051734 RCV006253556 RCV006253562 RCV006456613 RCV006253564 RCV006253557 RCV006253555 RCV006253561 RCV006253558 RCV006253559 RCV006253563 RCV006253560
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_002524.5(NRAS):c.182A>G (p.Gln61Arg)	SNV Germline/somatic	Chr1:114713908	Pathogenic	Thyroid cancer, nonmedullary, 2 Non-small cell lung carcinoma Epidermal nevus Large congenital melanocytic nevus Neurocutaneous melanocytosis Linear nevus sebaceous syndrome Condition: not provided Noonan syndrome 6 Neoplasm Colorectal cancer Vascular malformation Embryonal rhabdomyosarcoma Melanoma Germinoma Follicular thyroid carcinoma Nodal T-follicular helper cell lymphoma Diffuse midline glioma, H3 K27M-mutant	Criteria Provided Multiple Submitters No Conflicts	CA123618	rs_11554290	12 SubmittersRCV000014914 RCV000037574 RCV000032847 RCV000114744 RCV000114745 RCV000148032 RCV000413804 RCV003992155 RCV004668730 RCV005603586 RCV005251039 RCV006253590 RCV006253591 RCV006253592 RCV006253593 RCV005604774 RCV006253594
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_004333.6(BRAF):c.1801A>G (p.Lys601Glu)	SNV Somatic	Chr7:140753334	Pathogenic	Thyroid cancer, nonmedullary, 2 Carcinoma of colon Non-small cell lung carcinoma Lung adenocarcinoma Neoplasm Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Neuroblastoma	Criteria Provided Single Submitter	CA123645	rs_121913364	5 SubmittersRCV000015000 RCV000014999 RCV000037938 RCV000433498 RCV005229793 RCV006253615 RCV006253614
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val)	SNV Somatic	Chr7:140781611	Pathogenic	Lung adenocarcinoma Non-small cell lung carcinoma	No Assertion Criteria Provided	CA123647	rs_121913351	2 SubmittersRCV000015001 RCV000037916
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val)	SNV Germline/somatic	Chr7:140753346	Pathogenic	Non-small cell lung carcinoma Noonan syndrome 7 Cardio-facio-cutaneous syndrome Noonan syndrome Noonan syndrome 1 Condition: not provided Cardio-facio-cutaneous syndrome Noonan syndrome and Noonan-related syndrome RASopathy Noonan syndrome 7 LEOPARD syndrome 3 Cardiofaciocutaneous syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA123651	rs_121913369	12 SubmittersRCV000015003 RCV000030948 RCV000033333 RCV000208539 RCV000505705 RCV002271369 RCV001813207 RCV002513056 RCV005222683
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala)	SNV Somatic	Chr7:140781602	Pathogenic	Non-Hodgkin lymphoma Non-small cell lung carcinoma Ganglioglioma Nasopharyngeal carcinoma Neoplasm Neuroblastoma	Criteria Provided Single Submitter	CA123655	rs_121913355	4 SubmittersRCV000015005 RCV000150210 RCV006253619 RCV006253618 RCV006273057 RCV006253617
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly)	SNV Germline/somatic	Chr7:140753354	Conflicting classifications of pathogenicity	Non-Hodgkin lymphoma Non-small cell lung carcinoma Lung adenocarcinoma RASopathy Neoplasm Condition: not provided Ganglioglioma	Criteria Provided Conflicting Classifications	CA123657	rs_121913338	7 SubmittersRCV000015006 RCV000037932 RCV000426107 RCV001238853 RCV005229794 RCV005251040 RCV006253620
NM_002198.3(IRF1):c.31T>C (p.Trp11Arg)	SNV Somatic	Chr5:132489448	Pathogenic	Non-small cell lung carcinoma	No Assertion Criteria Provided	CA124285	rs_121912470	1 SubmittersRCV000015841
NM_005228.5(EGFR):c.2155G>T (p.Gly719Cys)	SNV Somatic	Chr7:55174014	Pathogenic; drug response	Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic Non-small cell lung carcinoma	No Assertion Criteria Provided	CA126719	rs_28929495	2 SubmittersRCV000018086 RCV000038380
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)	SNV Germline/somatic	Chr3:179218294	Pathogenic	CLOVES syndrome Ovarian neoplasm Non-small cell lung carcinoma Condition: not provided CLAPO syndrome Lip and oral cavity carcinoma Cerebrofacial Vascular Metameric Syndrome (CVMS) CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC Abnormal cardiovascular system morphology Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes PIK3CA-related overgrowth PIK3CA related overgrowth syndrome PIK3CA-related disorder Rare venous malformation Cowden syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Neoplasm HEMIFACIAL MYOHYPERPLASIA, SOMATIC Rosette-forming glioneuronal tumor Alveolar rhabdomyosarcoma Diffuse midline glioma, H3 K27M-mutant Vascular malformation Glioma Cervical squamous cell carcinoma	Reviewed By Expert Panel	CA333572	rs_121913273	20 SubmittersRCV000024622 RCV000151649 RCV000154513 RCV000416776 RCV000709693 RCV001255687 RCV001730477 RCV001728093 RCV001327962 RCV001836714 RCV003987334 RCV003458190 RCV004532404 RCV004527296 RCV002513230 RCV004698785 RCV004668742 RCV003764635 RCV006253684 RCV006253682 RCV006253686 RCV006253685 RCV006253683 RCV006456623
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)	SNV Germline/somatic	Chr3:179234296	Pathogenic	Megalencephaly-capillary malformation-polymicrogyria syndrome Non-small cell lung carcinoma Cowden syndrome 13 conditions Condition: not provided Segmental undergrowth associated with mainly venous malformation with capillary component CLOVES syndrome PIK3CA related overgrowth syndrome HEMIFACIAL MYOHYPERPLASIA, SOMATIC PIK3CA overgrowth syndrome Inborn genetic diseases Sialoblastoma Diffuse midline glioma, H3 K27M-mutant	Criteria Provided Multiple Submitters No Conflicts	CA130471	rs_121913281	15 SubmittersRCV000032909 RCV000038675 RCV000698423 RCV000763508 RCV001092441 RCV001705625 RCV002226661 RCV003233079 RCV003882732 RCV004698336 RCV004955262 RCV006253703 RCV006253702
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val)	SNV Germline/somatic	Chr7:140781617	Pathogenic/Likely pathogenic	RASopathy Non-small cell lung carcinoma Noonan syndrome and Noonan-related syndrome Cardiofaciocutaneous syndrome 1 Condition: not provided Ovarian Sertoli-Leydig cell tumor	Criteria Provided Multiple Submitters No Conflicts	CA135076	rs_121913348	8 SubmittersRCV000033302 RCV000037914 RCV001813221 RCV002250499 RCV001811232 RCV006253709
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr)	SNV Germline	Chr11:533881	Likely pathogenic	Non-small cell lung carcinoma Costello syndrome RASopathy	Reviewed By Expert Panel	CA176353	rs_727503093	5 SubmittersRCV000150834 RCV000150835 RCV004760350
NM_004333.6(BRAF):c.1396G>A (p.Gly466Arg)	SNV Germline/somatic	Chr7:140781612	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma Vascular malformation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA135079	rs_121913353	3 SubmittersRCV000037915 RCV004562228 RCV005229855
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val)	SNV Somatic	Chr7:140781602	Pathogenic	Non-small cell lung carcinoma Low grade glioma	Criteria Provided Single Submitter	CA135085	rs_121913355	2 SubmittersRCV000037919 RCV006253738
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)	SNV Germline/somatic	Chr7:140753355	Likely pathogenic	Non-small cell lung carcinoma Lung adenocarcinoma Prostate cancer, hereditary, 1 Pilocytic astrocytoma	Criteria Provided Single Submitter	CA135095	rs_397516896	4 SubmittersRCV000037931 RCV000443573 RCV002291550 RCV006253739
NM_004333.6(BRAF):c.1798G>A (p.Val600Met)	SNV Somatic	Chr7:140753337	Likely pathogenic	Non-small cell lung carcinoma Condition: not provided	Criteria Provided Single Submitter	CA135101	rs_121913378	2 SubmittersRCV000037934 RCV001357636
NM_004333.6(BRAF):c.1798G>T (p.Val600Leu)	SNV Somatic	Chr7:140753337	Likely pathogenic	Non-small cell lung carcinoma Myoepithelial tumor	Criteria Provided Single Submitter	CA135104	rs_121913378	2 SubmittersRCV000037935 RCV002463625
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu)	SNV Somatic	Chr12:25227342	Pathogenic	Non-small cell lung carcinoma Multiple myeloma Neoplasm Medullary thyroid carcinoma Germinoma	Criteria Provided Single Submitter	CA210876	rs_121913240	5 SubmittersRCV000038258 RCV000984128 RCV004668757 RCV004813050 RCV006253742
NM_004985.5(KRAS):c.183A>T (p.Gln61His)	SNV Somatic	Chr12:25227341	Pathogenic	Non-small cell lung carcinoma Cerebral arteriovenous malformation Vascular malformation	Criteria Provided Single Submitter	CA135552	rs_17851045	3 SubmittersRCV000038259 RCV003445113 RCV005251049
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala)	SNV Germline/somatic	Chr12:25245350	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma Multiple myeloma Condition: not provided Gallbladder cancer Lung cancer KRAS-related disorder 12 conditions Neoplasm Pilocytic astrocytoma High-grade astrocytoma with piloid features	Criteria Provided Multiple Submitters No Conflicts	CA135567	rs_121913529	9 SubmittersRCV000038266 RCV000984117 RCV001355876 RCV001374446 RCV003996396 RCV004549454 RCV004795958 RCV004668758 RCV006253743 RCV006253744
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys)	SNV Germline/somatic	Chr12:25245348	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma Autoimmune lymphoproliferative syndrome type 4 Condition: not provided KRAS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA135570	rs_121913535	8 SubmittersRCV000038268 RCV000144972 RCV000681039 RCV003335071
NM_004985.5(KRAS):c.38G>T (p.Gly13Val)	SNV Somatic	Chr12:25245347	Pathogenic	Non-small cell lung carcinoma Condition: not provided	Criteria Provided Single Submitter	CA135573	rs_112445441	2 SubmittersRCV000038270 RCV001355269
NM_005228.5(EGFR):c.2155G>C (p.Gly719Arg)	SNV Somatic	Chr7:55174014	Likely pathogenic; drug response	Non-small cell lung carcinoma Squamous cell carcinoma of the head and neck	No Assertion Criteria Provided	CA135772	rs_28929495	2 SubmittersRCV000038379 RCV000114405
NM_005228.5(EGFR):c.2156G>C (p.Gly719Ala)	SNV Germline/somatic	Chr7:55174015	Pathogenic	Non-small cell lung carcinoma Neoplasm	Criteria Provided Single Submitter	CA135775	rs_121913428	3 SubmittersRCV000038381 RCV004668759
NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile)	SNV Germline/somatic	Chr7:55181312	Pathogenic	Non-small cell lung carcinoma Neoplasm	Criteria Provided Single Submitter	CA135840	rs_121913465	3 SubmittersRCV000038407 RCV004668760
NM_005228.5(EGFR):c.2500G>T (p.Val834Leu)	SNV Somatic	Chr7:55191749	Pathogenic	Non-small cell lung carcinoma Lung adenocarcinoma	Criteria Provided Single Submitter	CA135920	rs_397517127	2 SubmittersRCV000038435 RCV003996408
NM_006218.4(PIK3CA):c.3073A>G (p.Thr1025Ala)	SNV Germline/somatic	Chr3:179234230	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma Condition: not provided PIK3CA related overgrowth syndrome CLOVES syndrome	Criteria Provided Multiple Submitters No Conflicts	CA136374	rs_397517202	5 SubmittersRCV000038673 RCV002254274 RCV003458194 RCV001526503
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)	SNV Germline/somatic	Chr3:179234286	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma PIK3CA related overgrowth syndrome Cowden syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Condition: not provided Medulloblastoma WNT activated	Criteria Provided Multiple Submitters No Conflicts	CA183868	rs_121913283	6 SubmittersRCV000155959 RCV000201237 RCV000699681 RCV001526545 RCV002293423 RCV006253845
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser)	SNV Somatic	Chr7:140753393	Likely pathogenic	Non-small cell lung carcinoma Lung adenocarcinoma Neoplasm	Criteria Provided Single Submitter	CA180747	rs_121913370	3 SubmittersRCV000154399 RCV000430462 RCV006273568
NM_004333.6(BRAF):c.1405G>A (p.Gly469Arg)	SNV Germline/somatic	Chr7:140781603	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma Noonan syndrome and Noonan-related syndrome	Criteria Provided Multiple Submitters No Conflicts	CA180746	rs_121913357	2 SubmittersRCV000154398 RCV001813396
NM_004985.5(KRAS):c.290G>A (p.Arg97Lys)	SNV Somatic	Chr12:25227234	Likely pathogenic	Non-small cell lung carcinoma	No Assertion Criteria Provided	CA176487	rs_727503106	1 SubmittersRCV000150887
NM_004985.5(KRAS):c.181C>A (p.Gln61Lys)	SNV Germline/somatic	Chr12:25227343	Pathogenic	Non-small cell lung carcinoma Colon adenocarcinoma Thyroid cancer, nonmedullary, 1	Criteria Provided Single Submitter	CA180750	rs_121913238	2 SubmittersRCV000154402 RCV005888473 RCV005888474
NM_004985.5(KRAS):c.183A>C (p.Gln61His)	SNV Germline/somatic	Chr12:25227341	Conflicting classifications of pathogenicity	Non-small cell lung carcinoma Juvenile myelomonocytic leukemia Condition: not provided RASopathy Cardiovascular phenotype Primary intracranial sarcoma, DICER1-mutant Colorectal cancer Neoplasm Pilocytic astrocytoma Embryonal rhabdomyosarcoma	Criteria Provided Conflicting Classifications	CA180922	rs_17851045	9 SubmittersRCV000154530 RCV001004043 RCV002056053 RCV002514970 RCV002408686 RCV004698422 RCV005603602 RCV004668811 RCV006253843 RCV006253844
NM_004985.5(KRAS):c.179G>T (p.Gly60Val)	SNV Germline/somatic	Chr12:25227345	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma Noonan syndrome Cardio-facio-cutaneous syndrome Condition: not provided RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA176493	rs_727503108	6 SubmittersRCV000150889 RCV000157936 RCV000212500 RCV001850055
NM_004985.5(KRAS):c.39C>A (p.Gly13=)	SNV Somatic	Chr12:25245346	Likely pathogenic	Non-small cell lung carcinoma	Criteria Provided Single Submitter	CA176496	rs_397517040	1 SubmittersRCV000150894
NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro)	SNV Germline/somatic	Chr15:66435113	Pathogenic	Non-small cell lung carcinoma Melorheostosis Condition: not provided Neoplasm Extracranial arteriovenous malformation	Criteria Provided Multiple Submitters No Conflicts	CA16602453	rs_1057519729	5 SubmittersRCV000418731 RCV002051704 RCV002254296 RCV005230288 RCV005251122

SNV
Germline/somatic

Chr12:25245351

Likely pathogenic

Lung carcinoma
Non-small cell lung carcinoma
Endometrial carcinoma
Lung adenocarcinoma
Gallbladder cancer
Condition: not provided
RASopathy
Lung cancer
Neoplasm
Adenocarcinoma of the large intestine
Embryonal rhabdomyosarcoma
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
Ovarian mucinous adenocarcinoma

Criteria Provided
Single Submitter

CA122528

rs_121913530

10 SubmittersRCV000013406 RCV000038265 RCV000119791 RCV000431049 RCV001292543 RCV001355787 RCV003654176 RCV003996092 RCV004668721 RCV006253513 RCV006253511 RCV006253512 RCV006253514

NM_004985.5(KRAS):c.34G>C (p.Gly12Arg)

SNV
Germline/somatic

Chr12:25245351

Pathogenic/Likely pathogenic

Squamous cell lung carcinoma
Malignant tumor of urinary bladder
Non-small cell lung carcinoma
Condition: not provided
RASopathy
Neoplasm
Adenoid cystic carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA122531

rs_121913530

7 SubmittersRCV000013407 RCV000013408 RCV000154401 RCV001356365 RCV002513010 RCV004668722 RCV004813033

NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)

SNV
Germline/somatic

Chr12:25245347

Pathogenic

Breast adenocarcinoma
Non-small cell lung carcinoma
Juvenile myelomonocytic leukemia
Autoimmune lymphoproliferative syndrome type 4
OCULOECTODERMAL SYNDROME, SOMATIC
Condition: not provided
Nevus sebaceous
Inborn genetic diseases
Noonan syndrome and Noonan-related syndrome
RASopathy
Encephalocraniocutaneous lipomatosis
Neoplasm
Familial pancreatic carcinoma
KRAS-related disorder
Colorectal cancer
Melanoma
Acute myeloid leukemia
Malignant tumor of urinary bladder
Cervical cancer
Adenocarcinoma of the large intestine
Embryonal rhabdomyosarcoma
Diffuse midline glioma, H3 K27M-mutant

Criteria Provided
Multiple Submitters
No Conflicts

CA122534

rs_112445441

18 SubmittersRCV000013409 RCV000038269 RCV000144967 RCV000144968 RCV000791297 RCV001092389 RCV001526657 RCV001266168 RCV001813183 RCV001857340 RCV001839444 RCV004668723 RCV004813034 RCV004549358 RCV005887482 RCV005887483 RCV005887479 RCV005887480 RCV005887481 RCV006253517 RCV006253515 RCV006253516

NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)

SNV
Germline/somatic

Chr12:25245350

Pathogenic/Likely pathogenic

Carcinoma of pancreas
Epidermal nevus
Nevus sebaceous
Linear nevus sebaceous syndrome
Juvenile myelomonocytic leukemia
Autoimmune lymphoproliferative syndrome type 4
Non-small cell lung carcinoma
Ovarian neoplasm
Condition: not provided
Acute myeloid leukemia
RASopathy
Cerebral arteriovenous malformation
Vascular Tumors Including Pyogenic Granuloma
Primary low grade serous adenocarcinoma of ovary
Capillary malformation-arteriovenous malformation 1
Encephalocraniocutaneous lipomatosis
Gastric cancer
Atypical endometrial hyperplasia
Endometrial hyperplasia without atypia
Cardiovascular phenotype
Congenital Pulmonary Airway Malformations
Neoplasm
12 conditions
Adenocarcinoma of the large intestine
Ovarian mucinous adenocarcinoma
Precursor B-cell acute lymphoblastic leukemia
Diffuse midline glioma, H3 K27M-mutant
Embryonal rhabdomyosarcoma
Papillary thyroid carcinoma
Alveolar rhabdomyosarcoma
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
Colorectal cancer
Medulloblastoma non-WNT/non-SHH
Glioma

Criteria Provided
Multiple Submitters
No Conflicts

CA122538

rs_121913529

27 SubmittersRCV000013411 RCV000022799 RCV000029214 RCV000029215 RCV000144969 RCV000144970 RCV000150896 RCV000150897 RCV000272938 RCV000433573 RCV000548006 RCV000585796 RCV000662266 RCV000856666 RCV001799604 RCV001839445 RCV002508117 RCV003327361 RCV004018620 RCV004554600 RCV004668724 RCV005007840 RCV006253525 RCV006253527 RCV006253518 RCV006253524 RCV006253522 RCV006253519 RCV006253520 RCV006253523 RCV006250158 RCV006253526 RCV006253521

NM_004985.5(KRAS):c.35G>T (p.Gly12Val)

SNV
Germline/somatic

Chr12:25245350

Pathogenic

Carcinoma of pancreas
Nevus sebaceous
Condition: not provided
Juvenile myelomonocytic leukemia
Non-small cell lung carcinoma
Cerebral arteriovenous malformation
Chronic myelogenous leukemia, BCR-ABL1 positive
Lung sarcomatoid carcinoma
Linear nevus sebaceous syndrome
RASopathy
Neoplasm
Colorectal cancer
Ovarian mucinous adenocarcinoma
Adenocarcinoma of the large intestine
Germinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA122540

rs_121913529

14 SubmittersRCV000013413 RCV000029216 RCV000157944 RCV000150895 RCV000154262 RCV000585801 RCV002291496 RCV003322589 RCV003455987 RCV003539760 RCV004668725 RCV006250159 RCV006253530 RCV006253529 RCV006253528

NM_004985.5(KRAS):c.34G>A (p.Gly12Ser)

SNV
Germline/somatic

Chr12:25245351

Pathogenic

Gastric cancer
Non-small cell lung carcinoma
Ovarian neoplasm
Juvenile myelomonocytic leukemia
Condition: not provided
RASopathy
Neoplasm
Vascular malformation
Cardiofaciocutaneous syndrome 2
Rhabdomyosarcoma
Neuroblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA135565

rs_121913530

12 SubmittersRCV000013414 RCV000038264 RCV000119790 RCV000144971 RCV000782191 RCV001851824 RCV004668726 RCV004562205 RCV004795403 RCV006253532 RCV006253531

NM_004985.5(KRAS):c.37G>C (p.Gly13Arg)

SNV
Somatic

Chr12:25245348

Pathogenic

Pilocytic astrocytoma
Non-small cell lung carcinoma
Condition: not provided

Criteria Provided
Single Submitter

CA122542

rs_121913535

4 SubmittersRCV000013424 RCV000038267 RCV001357137

NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)

SNV
Germline/somatic

Chr3:179234297

Pathogenic

Carcinoma of colon
Hepatocellular carcinoma
Non-small cell lung carcinoma
Seborrheic keratosis
Breast adenocarcinoma
OVARIAN CANCER, EPITHELIAL, SOMATIC
CLOVES syndrome
Ovarian neoplasm
PIK3CA related overgrowth syndrome
Neoplasm
Rosette-forming glioneuronal tumor
MACRODACTYLY, SOMATIC
Condition: not provided
Lip and oral cavity carcinoma
Abnormal cardiovascular system morphology
CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC
CLAPO syndrome
Cerebrofacial Vascular Metameric Syndrome (CVMS)
Megalencephaly-capillary malformation-polymicrogyria syndrome
Congenital macrodactylia
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Segmental undergrowth associated with mainly venous malformation with capillary component
Segmental undergrowth associated with lymphatic malformation
Gastric cancer
Breast carcinoma
Klippel-Trenaunay-like-Syndrome
Rare venous malformation
PIK3CA-related disorder
Rare combined vascular malformation
PIK3CA-Related Overgrowth Spectrum Disorders
Nasopharyngeal carcinoma
Diffuse midline glioma, H3 K27M-mutant
Cervical squamous cell carcinoma
Diffuse glioma, H3 G34 mutant
Glioma
Neuroblastoma
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
Colorectal cancer
Adenoid cystic carcinoma
Cavernous lymphangioma
Embryonal rhabdomyosarcoma

Reviewed By Expert Panel

CA123326

rs_121913279

33 SubmittersRCV000014624 RCV000014626 RCV000014627 RCV000014628 RCV000014622 RCV000014623 RCV000024621 RCV000154516 RCV000201231 RCV000438435 RCV000487449 RCV000709691 RCV001092442 RCV001255686 RCV001327968 RCV001728091 RCV001729349 RCV001730472 RCV001807727 RCV001526648 RCV001836707 RCV001705589 RCV001705590 RCV002508124 RCV003128082 RCV003325939 RCV004527290 RCV004737153 RCV004527291 RCV005051734 RCV006253556 RCV006253562 RCV006456613 RCV006253564 RCV006253557 RCV006253555 RCV006253561 RCV006253558 RCV006253559 RCV006253563 RCV006253560

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_002524.5(NRAS):c.182A>G (p.Gln61Arg)

SNV
Germline/somatic

Chr1:114713908

Pathogenic

Thyroid cancer, nonmedullary, 2
Non-small cell lung carcinoma
Epidermal nevus
Large congenital melanocytic nevus
Neurocutaneous melanocytosis
Linear nevus sebaceous syndrome
Condition: not provided
Noonan syndrome 6
Neoplasm
Colorectal cancer
Vascular malformation
Embryonal rhabdomyosarcoma
Melanoma
Germinoma
Follicular thyroid carcinoma
Nodal T-follicular helper cell lymphoma
Diffuse midline glioma, H3 K27M-mutant

Criteria Provided
Multiple Submitters
No Conflicts

CA123618

rs_11554290

12 SubmittersRCV000014914 RCV000037574 RCV000032847 RCV000114744 RCV000114745 RCV000148032 RCV000413804 RCV003992155 RCV004668730 RCV005603586 RCV005251039 RCV006253590 RCV006253591 RCV006253592 RCV006253593 RCV005604774 RCV006253594

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_004333.6(BRAF):c.1801A>G (p.Lys601Glu)

SNV
Somatic

Chr7:140753334

Pathogenic

Thyroid cancer, nonmedullary, 2
Carcinoma of colon
Non-small cell lung carcinoma
Lung adenocarcinoma
Neoplasm
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
Neuroblastoma

Criteria Provided
Single Submitter

CA123645

rs_121913364

5 SubmittersRCV000015000 RCV000014999 RCV000037938 RCV000433498 RCV005229793 RCV006253615 RCV006253614

NM_004333.6(BRAF):c.1397G>T (p.Gly466Val)

SNV
Somatic

Chr7:140781611

Pathogenic

Lung adenocarcinoma
Non-small cell lung carcinoma

No Assertion Criteria Provided

CA123647

rs_121913351

2 SubmittersRCV000015001 RCV000037916

NM_004333.6(BRAF):c.1789C>G (p.Leu597Val)

SNV
Germline/somatic

Chr7:140753346

Pathogenic

Non-small cell lung carcinoma
Noonan syndrome 7
Cardio-facio-cutaneous syndrome
Noonan syndrome
Noonan syndrome 1
Condition: not provided
Cardio-facio-cutaneous syndrome
Noonan syndrome and Noonan-related syndrome
RASopathy
Noonan syndrome 7
LEOPARD syndrome 3
Cardiofaciocutaneous syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA123651

rs_121913369

12 SubmittersRCV000015003 RCV000030948 RCV000033333 RCV000208539 RCV000505705 RCV002271369 RCV001813207 RCV002513056 RCV005222683

NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala)

SNV
Somatic

Chr7:140781602

Pathogenic

Non-Hodgkin lymphoma
Non-small cell lung carcinoma
Ganglioglioma
Nasopharyngeal carcinoma
Neoplasm
Neuroblastoma

Criteria Provided
Single Submitter

CA123655

rs_121913355

4 SubmittersRCV000015005 RCV000150210 RCV006253619 RCV006253618 RCV006273057 RCV006253617

NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly)

SNV
Germline/somatic

Chr7:140753354

Conflicting classifications of pathogenicity

Non-Hodgkin lymphoma
Non-small cell lung carcinoma
Lung adenocarcinoma
RASopathy
Neoplasm
Condition: not provided
Ganglioglioma

Criteria Provided
Conflicting Classifications

CA123657

rs_121913338

7 SubmittersRCV000015006 RCV000037932 RCV000426107 RCV001238853 RCV005229794 RCV005251040 RCV006253620

NM_002198.3(IRF1):c.31T>C (p.Trp11Arg)

SNV
Somatic

Chr5:132489448

Pathogenic

Non-small cell lung carcinoma

No Assertion Criteria Provided

CA124285

rs_121912470

1 SubmittersRCV000015841

NM_005228.5(EGFR):c.2155G>T (p.Gly719Cys)

SNV
Somatic

Chr7:55174014

Pathogenic; drug response

Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic
Non-small cell lung carcinoma

No Assertion Criteria Provided

CA126719

rs_28929495

2 SubmittersRCV000018086 RCV000038380

NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)

SNV
Germline/somatic

Chr3:179218294

Pathogenic

CLOVES syndrome
Ovarian neoplasm
Non-small cell lung carcinoma
Condition: not provided
CLAPO syndrome
Lip and oral cavity carcinoma
Cerebrofacial Vascular Metameric Syndrome (CVMS)
CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC
Abnormal cardiovascular system morphology
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
PIK3CA-related overgrowth
PIK3CA related overgrowth syndrome
PIK3CA-related disorder
Rare venous malformation
Cowden syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
Neoplasm
HEMIFACIAL MYOHYPERPLASIA, SOMATIC
Rosette-forming glioneuronal tumor
Alveolar rhabdomyosarcoma
Diffuse midline glioma, H3 K27M-mutant
Vascular malformation
Glioma
Cervical squamous cell carcinoma

Reviewed By Expert Panel

CA333572

rs_121913273

20 SubmittersRCV000024622 RCV000151649 RCV000154513 RCV000416776 RCV000709693 RCV001255687 RCV001730477 RCV001728093 RCV001327962 RCV001836714 RCV003987334 RCV003458190 RCV004532404 RCV004527296 RCV002513230 RCV004698785 RCV004668742 RCV003764635 RCV006253684 RCV006253682 RCV006253686 RCV006253685 RCV006253683 RCV006456623

NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)

SNV
Germline/somatic

Chr3:179234296

Pathogenic

Megalencephaly-capillary malformation-polymicrogyria syndrome
Non-small cell lung carcinoma
Cowden syndrome
13 conditions
Condition: not provided
Segmental undergrowth associated with mainly venous malformation with capillary component
CLOVES syndrome
PIK3CA related overgrowth syndrome
HEMIFACIAL MYOHYPERPLASIA, SOMATIC
PIK3CA overgrowth syndrome
Inborn genetic diseases
Sialoblastoma
Diffuse midline glioma, H3 K27M-mutant

Criteria Provided
Multiple Submitters
No Conflicts

CA130471

rs_121913281

15 SubmittersRCV000032909 RCV000038675 RCV000698423 RCV000763508 RCV001092441 RCV001705625 RCV002226661 RCV003233079 RCV003882732 RCV004698336 RCV004955262 RCV006253703 RCV006253702

NM_004333.6(BRAF):c.1391G>T (p.Gly464Val)

SNV
Germline/somatic

Chr7:140781617

Pathogenic/Likely pathogenic

RASopathy
Non-small cell lung carcinoma
Noonan syndrome and Noonan-related syndrome
Cardiofaciocutaneous syndrome 1
Condition: not provided
Ovarian Sertoli-Leydig cell tumor

Criteria Provided
Multiple Submitters
No Conflicts

CA135076

rs_121913348

8 SubmittersRCV000033302 RCV000037914 RCV001813221 RCV002250499 RCV001811232 RCV006253709

NM_005343.4(HRAS):c.175G>A (p.Ala59Thr)

SNV
Germline

Chr11:533881

Likely pathogenic

Non-small cell lung carcinoma
Costello syndrome
RASopathy

Reviewed By Expert Panel

CA176353

rs_727503093

5 SubmittersRCV000150834 RCV000150835 RCV004760350

NM_004333.6(BRAF):c.1396G>A (p.Gly466Arg)

SNV
Germline/somatic

Chr7:140781612

Pathogenic/Likely pathogenic

Non-small cell lung carcinoma
Vascular malformation
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA135079

rs_121913353

3 SubmittersRCV000037915 RCV004562228 RCV005229855

NM_004333.6(BRAF):c.1406G>T (p.Gly469Val)

SNV
Somatic

Chr7:140781602

Pathogenic

Non-small cell lung carcinoma
Low grade glioma

Criteria Provided
Single Submitter

CA135085

rs_121913355

2 SubmittersRCV000037919 RCV006253738

NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)

SNV
Germline/somatic

Chr7:140753355

Likely pathogenic

Non-small cell lung carcinoma
Lung adenocarcinoma
Prostate cancer, hereditary, 1
Pilocytic astrocytoma

Criteria Provided
Single Submitter

CA135095

rs_397516896

4 SubmittersRCV000037931 RCV000443573 RCV002291550 RCV006253739

NM_004333.6(BRAF):c.1798G>A (p.Val600Met)

SNV
Somatic

Chr7:140753337

Likely pathogenic

Non-small cell lung carcinoma
Condition: not provided

Criteria Provided
Single Submitter

CA135101

rs_121913378

2 SubmittersRCV000037934 RCV001357636

NM_004333.6(BRAF):c.1798G>T (p.Val600Leu)

SNV
Somatic

Chr7:140753337

Likely pathogenic

Non-small cell lung carcinoma
Myoepithelial tumor

Criteria Provided
Single Submitter

CA135104

rs_121913378

2 SubmittersRCV000037935 RCV002463625

NM_004985.5(KRAS):c.182A>T (p.Gln61Leu)

SNV
Somatic

Chr12:25227342

Pathogenic

Non-small cell lung carcinoma
Multiple myeloma
Neoplasm
Medullary thyroid carcinoma
Germinoma

Criteria Provided
Single Submitter

CA210876

rs_121913240

5 SubmittersRCV000038258 RCV000984128 RCV004668757 RCV004813050 RCV006253742

NM_004985.5(KRAS):c.183A>T (p.Gln61His)

SNV
Somatic

Chr12:25227341

Pathogenic

Non-small cell lung carcinoma
Cerebral arteriovenous malformation
Vascular malformation

Criteria Provided
Single Submitter

CA135552

rs_17851045

3 SubmittersRCV000038259 RCV003445113 RCV005251049

NM_004985.5(KRAS):c.35G>C (p.Gly12Ala)

SNV
Germline/somatic

Chr12:25245350

Pathogenic/Likely pathogenic

Non-small cell lung carcinoma
Multiple myeloma
Condition: not provided
Gallbladder cancer
Lung cancer
KRAS-related disorder
12 conditions
Neoplasm
Pilocytic astrocytoma
High-grade astrocytoma with piloid features

Criteria Provided
Multiple Submitters
No Conflicts

CA135567

rs_121913529

9 SubmittersRCV000038266 RCV000984117 RCV001355876 RCV001374446 RCV003996396 RCV004549454 RCV004795958 RCV004668758 RCV006253743 RCV006253744

NM_004985.5(KRAS):c.37G>T (p.Gly13Cys)

SNV
Germline/somatic

Chr12:25245348

Pathogenic/Likely pathogenic

Non-small cell lung carcinoma
Autoimmune lymphoproliferative syndrome type 4
Condition: not provided
KRAS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA135570

rs_121913535

8 SubmittersRCV000038268 RCV000144972 RCV000681039 RCV003335071

NM_004985.5(KRAS):c.38G>T (p.Gly13Val)

SNV
Somatic

Chr12:25245347

Pathogenic

Non-small cell lung carcinoma
Condition: not provided

Criteria Provided
Single Submitter

CA135573

rs_112445441

2 SubmittersRCV000038270 RCV001355269

NM_005228.5(EGFR):c.2155G>C (p.Gly719Arg)

SNV
Somatic

Chr7:55174014

Likely pathogenic; drug response

Non-small cell lung carcinoma
Squamous cell carcinoma of the head and neck

No Assertion Criteria Provided

CA135772

rs_28929495

2 SubmittersRCV000038379 RCV000114405

NM_005228.5(EGFR):c.2156G>C (p.Gly719Ala)

SNV
Germline/somatic

Chr7:55174015

Pathogenic

Non-small cell lung carcinoma
Neoplasm

Criteria Provided
Single Submitter

CA135775

rs_121913428

3 SubmittersRCV000038381 RCV004668759

NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile)

SNV
Germline/somatic

Chr7:55181312

Pathogenic

Non-small cell lung carcinoma
Neoplasm

Criteria Provided
Single Submitter

CA135840

rs_121913465

3 SubmittersRCV000038407 RCV004668760

NM_005228.5(EGFR):c.2500G>T (p.Val834Leu)

SNV
Somatic

Chr7:55191749

Pathogenic

Non-small cell lung carcinoma
Lung adenocarcinoma

Criteria Provided
Single Submitter

CA135920

rs_397517127

2 SubmittersRCV000038435 RCV003996408

NM_006218.4(PIK3CA):c.3073A>G (p.Thr1025Ala)

SNV
Germline/somatic

Chr3:179234230

Pathogenic/Likely pathogenic

Non-small cell lung carcinoma
Condition: not provided
PIK3CA related overgrowth syndrome
CLOVES syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA136374

rs_397517202

5 SubmittersRCV000038673 RCV002254274 RCV003458194 RCV001526503

NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)

SNV
Germline/somatic

Chr3:179234286

Pathogenic/Likely pathogenic

Non-small cell lung carcinoma
PIK3CA related overgrowth syndrome
Cowden syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
Condition: not provided
Medulloblastoma WNT activated

Criteria Provided
Multiple Submitters
No Conflicts

CA183868

rs_121913283

6 SubmittersRCV000155959 RCV000201237 RCV000699681 RCV001526545 RCV002293423 RCV006253845

NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser)

SNV
Somatic

Chr7:140753393

Likely pathogenic

Non-small cell lung carcinoma
Lung adenocarcinoma
Neoplasm

Criteria Provided
Single Submitter

CA180747

rs_121913370

3 SubmittersRCV000154399 RCV000430462 RCV006273568

NM_004333.6(BRAF):c.1405G>A (p.Gly469Arg)

SNV
Germline/somatic

Chr7:140781603

Pathogenic/Likely pathogenic

Non-small cell lung carcinoma
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA180746

rs_121913357

2 SubmittersRCV000154398 RCV001813396

NM_004985.5(KRAS):c.290G>A (p.Arg97Lys)

SNV
Somatic

Chr12:25227234

Likely pathogenic

Non-small cell lung carcinoma

No Assertion Criteria Provided

CA176487

rs_727503106

1 SubmittersRCV000150887

NM_004985.5(KRAS):c.181C>A (p.Gln61Lys)

SNV
Germline/somatic

Chr12:25227343

Pathogenic

Non-small cell lung carcinoma
Colon adenocarcinoma
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

CA180750

rs_121913238

2 SubmittersRCV000154402 RCV005888473 RCV005888474

NM_004985.5(KRAS):c.183A>C (p.Gln61His)

SNV
Germline/somatic

Chr12:25227341

Conflicting classifications of pathogenicity

Non-small cell lung carcinoma
Juvenile myelomonocytic leukemia
Condition: not provided
RASopathy
Cardiovascular phenotype
Primary intracranial sarcoma, DICER1-mutant
Colorectal cancer
Neoplasm
Pilocytic astrocytoma
Embryonal rhabdomyosarcoma

Criteria Provided
Conflicting Classifications

CA180922

rs_17851045

9 SubmittersRCV000154530 RCV001004043 RCV002056053 RCV002514970 RCV002408686 RCV004698422 RCV005603602 RCV004668811 RCV006253843 RCV006253844

NM_004985.5(KRAS):c.179G>T (p.Gly60Val)

SNV
Germline/somatic

Chr12:25227345

Pathogenic/Likely pathogenic

Non-small cell lung carcinoma
Noonan syndrome
Cardio-facio-cutaneous syndrome
Condition: not provided
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA176493

rs_727503108