Total 72 pathogenic variants reported for Non-small cell lung carcinoma
| 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 |
Criteria Provided Single Submitter |
CA122528 |
rs_121913530 |
9 SubmittersRCV000013406RCV000038265RCV000119791RCV000431049RCV001292543RCV001355787RCV003654176RCV003996092RCV004668721 |
|
NM_004985.5(KRAS):c.34G>C (p.Gly12Arg)
|
SNV Germline/somatic |
Chr12:25245351 |
Pathogenic/Likely pathogenic |
Malignant tumor of urinary bladder Squamous cell lung carcinoma Non-small cell lung carcinoma Condition: not provided RASopathy Adenoid cystic carcinoma Neoplasm |
Criteria Provided Multiple Submitters No Conflicts |
CA122531 |
rs_121913530 |
7 SubmittersRCV000013408RCV000013407RCV000154401RCV001356365RCV002513010RCV004813033RCV004668722 |
|
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 Inborn genetic diseases Nevus sebaceous Noonan syndrome and Noonan-related syndrome Encephalocraniocutaneous lipomatosis RASopathy Neoplasm KRAS-related disorder Familial pancreatic carcinoma |
Criteria Provided Multiple Submitters No Conflicts |
CA122534 |
rs_112445441 |
15 SubmittersRCV000013409RCV000038269RCV000144967RCV000144968RCV000791297RCV001092389RCV001266168RCV001526657RCV001813183RCV001839444RCV001857340RCV004668723RCV004549358RCV004813034 |
|
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 Endometrial hyperplasia without atypia Atypical endometrial hyperplasia Congenital Pulmonary Airway Malformations Neoplasm Cardiovascular phenotype 12 conditions KRAS-related overgrowth |
Criteria Provided Multiple Submitters No Conflicts |
CA122538 |
rs_121913529 |
25 SubmittersRCV000013411RCV000022799RCV000029214RCV000029215RCV000144969RCV000144970RCV000150896RCV000150897RCV000272938RCV000433573RCV000548006RCV000585796RCV000662266RCV000856666RCV001799604RCV001839445RCV002508117RCV003327361RCV004554600RCV004668724RCV004018620RCV005007840RCV005251035 |
|
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 |
Criteria Provided Multiple Submitters No Conflicts |
CA122540 |
rs_121913529 |
12 SubmittersRCV000013413RCV000029216RCV000157944RCV000150895RCV000154262RCV000585801RCV002291496RCV003322589RCV003455987RCV003539760RCV004668725 |
|
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser)
|
SNV Germline/somatic |
Chr12:25245351 |
Pathogenic |
Gastric cancer Ovarian neoplasm Non-small cell lung carcinoma Juvenile myelomonocytic leukemia Condition: not provided RASopathy Vascular malformation Neoplasm Cardiofaciocutaneous syndrome 2 |
Criteria Provided Multiple Submitters No Conflicts |
CA135565 |
rs_121913530 |
11 SubmittersRCV000013414RCV000119790RCV000038264RCV000144971RCV000782191RCV001851824RCV004562205RCV004668726RCV004795403 |
|
NM_004985.5(KRAS):c.37G>C (p.Gly13Arg)
|
SNV Somatic |
Chr12:25245348 |
Pathogenic |
Non-small cell lung carcinoma Pilocytic astrocytoma Condition: not provided |
Criteria Provided Single Submitter |
CA122542 |
rs_121913535 |
3 SubmittersRCV000038267RCV000013424RCV001357137 |
|
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) Segmental undergrowth associated with mainly venous malformation with capillary component Segmental undergrowth associated with lymphatic malformation Megalencephaly-capillary malformation-polymicrogyria syndrome Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Congenital macrodactylia Gastric cancer Breast carcinoma Klippel-Trenaunay-like-Syndrome Rare venous malformation Rare combined vascular malformation PIK3CA-related disorder PIK3CA-Related Overgrowth Spectrum Disorders |
Reviewed By Expert Panel |
CA123326 |
rs_121913279 |
30 SubmittersRCV000014624RCV000014626RCV000014627RCV000014628RCV000014622RCV000014623RCV000024621RCV000154516RCV000201231RCV000438435RCV000487449RCV000709691RCV001092442RCV001255686RCV001327968RCV001728091RCV001729349RCV001730472RCV001705589RCV001705590RCV001807727RCV001836707RCV001526648RCV002508124RCV003128082RCV003325939RCV004527290RCV004527291RCV004737153RCV005051734 |
|
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 CLOVES syndrome Abnormal cardiovascular system morphology PIK3CA related overgrowth syndrome Cerebrofacial Vascular Metameric Syndrome (CVMS) 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 |
Criteria Provided Multiple Submitters No Conflicts |
CA123334 |
rs_104886003 |
19 SubmittersRCV000014633RCV000014636RCV000014631RCV000014632RCV000038671RCV000055930RCV000119356RCV000422210RCV001092440RCV001262721RCV001327963RCV001290591RCV001730473RCV001705591RCV001374447RCV001786329RCV002508125RCV003764575RCV004527293RCV004527294RCV004527295RCV004668729RCV004698419 |
|
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)
|
SNV Germline/somatic |
Chr1:114713908 |
Pathogenic |
Thyroid cancer, nonmedullary, 2 Epidermal nevus Large congenital melanocytic nevus Neurocutaneous melanocytosis Non-small cell lung carcinoma Condition: not provided Linear nevus sebaceous syndrome Noonan syndrome 6 Neoplasm Colorectal cancer Vascular malformation Nodal T-follicular helper cell lymphoma |
Criteria Provided Multiple Submitters No Conflicts |
CA123618 |
rs_11554290 |
11 SubmittersRCV000014914RCV000032847RCV000114744RCV000114745RCV000037574RCV000413804RCV000148032RCV003992155RCV004668730RCV005603586RCV005251039RCV005604774 |
|
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 Non-small cell lung carcinoma Melanoma Condition: not provided Cardio-facio-cutaneous syndrome Multiple myeloma Neoplasm Cystic epithelial invagination containing papillae lined by columnar epithelium Cerebral arteriovenous malformation Colorectal cancer Malignant neoplastic disease Nephroblastoma Lymphangioma Vascular malformation Cardiovascular phenotype Thyroid gland undifferentiated (anaplastic) carcinoma RASopathy |
Criteria Provided Conflicting Classifications |
CA123643 |
rs_113488022 |
20 SubmittersRCV000014992RCV000014993RCV000014994RCV000022677RCV000037936RCV000067669RCV000080903RCV000208763RCV000430562RCV000443448RCV000662278RCV000860020RCV001030023RCV001254874RCV001248834RCV002051586RCV003458334RCV004018627RCV004719648RCV005089260 |
|
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu)
|
SNV Somatic |
Chr7:140753334 |
Pathogenic |
Non-small cell lung carcinoma Carcinoma of colon Thyroid cancer, nonmedullary, 2 Lung adenocarcinoma Neoplasm |
Criteria Provided Single Submitter |
CA123645 |
rs_121913364 |
4 SubmittersRCV000037938RCV000014999RCV000015000RCV000433498RCV005229793 |
|
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 SubmittersRCV000015001RCV000037916 |
|
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 Noonan syndrome and Noonan-related syndrome Cardio-facio-cutaneous syndrome RASopathy Noonan syndrome 7 LEOPARD syndrome 3 Cardiofaciocutaneous syndrome 1 |
Criteria Provided Multiple Submitters No Conflicts |
CA123651 |
rs_121913369 |
12 SubmittersRCV000015003RCV000030948RCV000033333RCV000208539RCV000505705RCV001813207RCV002271369RCV002513056RCV005222683 |
|
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala)
|
SNV Somatic |
Chr7:140781602 |
Pathogenic |
Non-Hodgkin lymphoma Non-small cell lung carcinoma |
Criteria Provided Single Submitter |
CA123655 |
rs_121913355 |
2 SubmittersRCV000015005RCV000150210 |
|
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 Condition: not provided Neoplasm |
Criteria Provided Conflicting Classifications |
CA123657 |
rs_121913338 |
6 SubmittersRCV000015006RCV000037932RCV000426107RCV001238853RCV005251040RCV005229794 |
|
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 SubmittersRCV000018086RCV000038380 |
|
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 CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC Abnormal cardiovascular system morphology Cerebrofacial Vascular Metameric Syndrome (CVMS) Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes PIK3CA-related overgrowth PIK3CA-related disorder Cowden syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome HEMIFACIAL MYOHYPERPLASIA, SOMATIC Rare venous malformation PIK3CA related overgrowth syndrome Neoplasm |
Reviewed By Expert Panel |
CA333572 |
rs_121913273 |
18 SubmittersRCV000024622RCV000151649RCV000154513RCV000416776RCV000709693RCV001255687RCV001728093RCV001327962RCV001730477RCV001836714RCV003987334RCV004532404RCV002513230RCV004698785RCV003764635RCV004527296RCV003458190RCV004668742 |
|
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 PIK3CA related overgrowth syndrome CLOVES syndrome HEMIFACIAL MYOHYPERPLASIA, SOMATIC PIK3CA overgrowth syndrome Inborn genetic diseases |
Criteria Provided Multiple Submitters No Conflicts |
CA130471 |
rs_121913281 |
14 SubmittersRCV000032909RCV000038675RCV000698423RCV000763508RCV001092441RCV001705625RCV003233079RCV002226661RCV003882732RCV004698336RCV004955262 |
|
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 Condition: not provided Cardiofaciocutaneous syndrome 1 |
Criteria Provided Multiple Submitters No Conflicts |
CA135076 |
rs_121913348 |
7 SubmittersRCV000033302RCV000037914RCV001813221RCV001811232RCV002250499 |
|
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr)
|
SNV Germline |
Chr11:533881 |
Likely pathogenic |
Non-small cell lung carcinoma Costello syndrome RASopathy not specified |
Reviewed By Expert Panel |
CA176353 |
rs_727503093 |
5 SubmittersRCV000150834RCV000150835RCV004760350RCV005430947 |
|
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 SubmittersRCV000037915RCV004562228RCV005229855 |
|
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val)
|
SNV Somatic |
Chr7:140781602 |
Pathogenic |
Non-small cell lung carcinoma |
Criteria Provided Single Submitter |
CA135085 |
rs_121913355 |
1 SubmittersRCV000037919 |
|
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 |
Criteria Provided Single Submitter |
CA135095 |
rs_397516896 |
3 SubmittersRCV000037931RCV000443573RCV002291550 |
|
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 SubmittersRCV000037934RCV001357636 |
|
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 SubmittersRCV000037935RCV002463625 |
|
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu)
|
SNV Somatic |
Chr12:25227342 |
Pathogenic |
Non-small cell lung carcinoma Multiple myeloma Medullary thyroid carcinoma Neoplasm |
Criteria Provided Single Submitter |
CA210876 |
rs_121913240 |
4 SubmittersRCV000038258RCV000984128RCV004813050RCV004668757 |
|
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 SubmittersRCV000038259RCV003445113RCV005251049 |
|
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 KRAS-related disorder 12 conditions Neoplasm Lung cancer |
Criteria Provided Multiple Submitters No Conflicts |
CA135567 |
rs_121913529 |
8 SubmittersRCV000038266RCV000984117RCV001355876RCV001374446RCV004549454RCV004795958RCV004668758RCV003996396 |
|
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 SubmittersRCV000038268RCV000144972RCV000681039RCV003335071 |
|
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 SubmittersRCV000038270RCV001355269 |
|
NM_004985.5(KRAS):c.39C>T (p.Gly13=)
|
SNV Germline/somatic |
Chr12:25245346 |
Conflicting classifications of pathogenicity |
Non-small cell lung carcinoma Condition: not provided Prostate cancer, hereditary, 1 Cardiovascular phenotype |
Criteria Provided Conflicting Classifications |
CA135576 |
rs_397517040 |
4 SubmittersRCV000038271RCV001357774RCV002291551RCV005348063 |
|
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 SubmittersRCV000038379RCV000114405 |
|
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 SubmittersRCV000038381RCV004668759 |
|
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 SubmittersRCV000038407RCV004668760 |
|
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 SubmittersRCV000038435RCV003996408 |
|
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 SubmittersRCV000038673RCV002254274RCV003458194RCV001526503 |
|
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 |
Criteria Provided Multiple Submitters No Conflicts |
CA183868 |
rs_121913283 |
5 SubmittersRCV000155959RCV000201237RCV000699681RCV001526545RCV002293423 |
|
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser)
|
SNV Somatic |
Chr7:140753393 |
Likely pathogenic |
Non-small cell lung carcinoma Lung adenocarcinoma |
Criteria Provided Single Submitter |
CA180747 |
rs_121913370 |
2 SubmittersRCV000154399RCV000430462 |
|
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 SubmittersRCV000154398RCV001813396 |
|
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 Somatic |
Chr12:25227343 |
Pathogenic |
Non-small cell lung carcinoma |
Criteria Provided Single Submitter |
CA180750 |
rs_121913238 |
1 SubmittersRCV000154402 |
|
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 RASopathy Colorectal cancer Cardiovascular phenotype Condition: not provided Neoplasm Primary intracranial sarcoma, DICER1-mutant |
Criteria Provided Conflicting Classifications |
CA180922 |
rs_17851045 |
8 SubmittersRCV000154530RCV001004043RCV002514970RCV005603602RCV002408686RCV002056053RCV004668811RCV004698422 |
|
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 |
5 SubmittersRCV000150889RCV000157936RCV000212500RCV001850055 |
|
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 SubmittersRCV000418731RCV002051704RCV002254296RCV005230288RCV005251122 |