Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)	SNV Germline	Chr22:28725099	Conflicting classifications of pathogenicity; risk factor	CHEK2-related cancer predisposition Breast and colorectal cancer, susceptibility to not specified Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Gastrointestinal carcinoma Adrenal cortex carcinoma Malignant tumor of breast Predisposition to cancer Breast and/or ovarian cancer TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL Prostate cancer CHEK2-related disorder Bone osteosarcoma CHEK2-related cancer predisposition Familial prostate cancer Familial cancer of breast Bone osteosarcoma CHEK2-related cancer predisposition Familial prostate cancer Familial cancer of breast Bone osteosarcoma CHEK2-related cancer predisposition Colorectal cancer Familial prostate cancer	Criteria Provided Conflicting Classifications	CA117630	rs_17879961	43 SubmittersRCV000005936 RCV000210131 RCV000120555 RCV000116018 RCV000144596 RCV000212410 RCV000626718 RCV001358111 RCV002254675 RCV001797993 RCV003333685 RCV003447470 RCV004528085 RCV005025010 RCV005406726 RCV005406727
NM_007194.4(CHEK2):c.49G>T (p.Ala17Ser)	SNV Somatic	Chr22:28734673	Pathogenic	Bone osteosarcoma	No Assertion Criteria Provided	CA117636	rs_137853008	1 SubmittersRCV000005943
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)	SNV Germline	Chr22:28725027	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Prostate cancer Familial cancer of breast Bone osteosarcoma CHEK2-related cancer predisposition Hereditary breast ovarian cancer syndrome CHEK2-related cancer predisposition not specified Breast and/or ovarian cancer Malignant tumor of breast Prostate cancer Bone osteosarcoma CHEK2-related cancer predisposition Familial prostate cancer Breast-ovarian cancer, familial, susceptibility to, 2	Criteria Provided Conflicting Classifications	CA117641	rs_121908701	22 SubmittersRCV000129670 RCV000114761 RCV000233960 RCV000765623 RCV001030688 RCV001294022 RCV001193685 RCV001797995 RCV001357854 RCV003333687 RCV005025011 RCV005604764
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)	SNV Germline/somatic	Chr22:28711986	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Prostate cancer Colorectal cancer Bone osteosarcoma CHEK2-related cancer predisposition Familial cancer of breast CHEK2-related cancer predisposition Familial cancer of breast Prostate cancer Predisposition to cancer CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA117644	rs_121908702	21 SubmittersRCV000114762 RCV000131201 RCV001818140 RCV002476934 RCV004760322 RCV000205850 RCV003333689 RCV001789748 RCV004532294
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)	SNV Germline	Chr22:28695219	Conflicting classifications of pathogenicity	Breast cancer, susceptibility to Familial cancer of breast Hereditary cancer-predisposing syndrome Breast neoplasm Prostate cancer Bone osteosarcoma CHEK2-related cancer predisposition Familial cancer of breast Hereditary breast ovarian cancer syndrome Malignant tumor of breast CHEK2-related cancer risk TUMOR PREDISPOSITION SYNDROME 4, BREAST CHEK2-related disorder Breast and colorectal cancer, susceptibility to Condition: not provided Breast and/or ovarian cancer Inherited breast cancer and ovarian cancer CHEK2-related cancer predisposition Familial prostate cancer Bone osteosarcoma CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA250528	rs_137853011	37 SubmittersRCV000005953 RCV000197718 RCV000115994 RCV000388223 RCV000515286 RCV000586482 RCV001354412 RCV001449813 RCV003333691 RCV004532295 RCV000210180 RCV000212459 RCV003492287 RCV004691717 RCV005414444 RCV005025012
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)	SNV Germline/somatic	Chr17:7674241	Pathogenic/Likely pathogenic	Bone osteosarcoma Hepatoblastoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Lip and oral cavity carcinoma Li-Fraumeni syndrome 1 Condition: not provided 12 conditions Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA000359	rs_28934573	11 SubmittersRCV000013154 RCV000013153 RCV000130168 RCV000559355 RCV000785290 RCV001255673 RCV002288485 RCV003114189 RCV002496336 RCV004668717
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter)	SNV Germline	Chr13:48379594	Pathogenic	Retinoblastoma Hereditary cancer-predisposing syndrome Malignant tumor of urinary bladder Small cell lung carcinoma Retinoblastoma Bone osteosarcoma Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA026371	rs_3092891	7 SubmittersRCV000013946 RCV000492544 RCV002496351 RCV002508188
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter)	SNV Germline	Chr13:48465238	Pathogenic	Retinoblastoma Condition: not provided Hereditary cancer-predisposing syndrome Malignant tumor of urinary bladder Small cell lung carcinoma Retinoblastoma Bone osteosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA026438	rs_137853293	9 SubmittersRCV000013948 RCV000760351 RCV000492108 RCV005007842
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)	SNV Germline/somatic	Chr13:48459708	Pathogenic	Retinoblastoma Hereditary cancer-predisposing syndrome Retinoblastoma Bone osteosarcoma Small cell lung carcinoma Malignant tumor of urinary bladder Condition: not provided Vulvar adenocarcinoma of mammary gland type	Criteria Provided Multiple Submitters No Conflicts	CA026417	rs_137853294	13 SubmittersRCV000013962 RCV000492717 RCV000763335 RCV000790652 RCV004813036
NM_000321.3(RB1):c.607+1G>T	SNV Germline	Chr13:48349024	Pathogenic	Retinoblastoma Condition: not provided Hereditary cancer-predisposing syndrome Malignant tumor of urinary bladder Small cell lung carcinoma Retinoblastoma Bone osteosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA026463	rs_587776789	8 SubmittersRCV000013969 RCV000484757 RCV000492204 RCV004795405
NM_000321.3(RB1):c.628G>T (p.Asp210Tyr)	SNV Germline	Chr13:48360037	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Retinoblastoma Malignant tumor of urinary bladder Small cell lung carcinoma Retinoblastoma Bone osteosarcoma	Criteria Provided Conflicting Classifications	CA026464	rs_148992508	10 SubmittersRCV000034597 RCV000492290 RCV000601517 RCV001079302 RCV005394201
NM_000321.3(RB1):c.1215+1G>A	SNV Germline/somatic	Chr13:48373493	Pathogenic	Retinoblastoma Hereditary cancer-predisposing syndrome Bone osteosarcoma Small cell lung carcinoma Retinoblastoma Malignant tumor of urinary bladder Malignant tumor of urinary bladder Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA026367	rs_587776783	14 SubmittersRCV000114724 RCV000492136 RCV000763334 RCV003460796 RCV005229900
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)	SNV Germline	Chr22:28695166	Conflicting classifications of pathogenicity	Condition: not provided Familial cancer of breast not specified Hereditary cancer-predisposing syndrome CHEK2-related cancer predisposition Prostate cancer Familial cancer of breast Bone osteosarcoma Malignant tumor of breast Breast and/or ovarian cancer CHEK2-related cancer predisposition Predisposition to cancer	Criteria Provided Conflicting Classifications	CA230682	rs_121908705	19 SubmittersRCV000114765 RCV000196666 RCV000160437 RCV000449435 RCV000515378 RCV001356532 RCV001798305 RCV005414454 RCV005600660
NM_007194.4(CHEK2):c.444+1G>T	SNV Germline	Chr22:28725242	Pathogenic/Likely pathogenic	Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome CHEK2-related cancer predisposition Bone osteosarcoma Familial prostate cancer	Criteria Provided Multiple Submitters No Conflicts	CA230689	rs_121908698	9 SubmittersRCV000114770 RCV000199852 RCV001022484 RCV005394377
NM_007194.4(CHEK2):c.-6G>A	SNV Germline	Chr22:28734727	Conflicting classifications of pathogenicity	Familial cancer of breast Malignant tumor of breast Condition: not provided not specified Hereditary cancer-predisposing syndrome CHEK2-related disorder CHEK2-related cancer predisposition Familial cancer of breast Familial prostate cancer Colorectal cancer Bone osteosarcoma	Criteria Provided Conflicting Classifications	CA288250	rs_376995740	10 SubmittersRCV000197200 RCV001357979 RCV000590166 RCV000722128 RCV000776065 RCV004542827 RCV005406829
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)	SNV Germline/somatic	Chr22:28695858	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Condition: not provided Malignant tumor of breast Breast neoplasm Hereditary breast ovarian cancer syndrome Bone osteosarcoma CHEK2-related cancer predisposition Familial prostate cancer Bone osteosarcoma Familial cancer of breast Lung cancer Ovarian neoplasm CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA288254	rs_531398630	19 SubmittersRCV000115982 RCV000212449 RCV000197709 RCV000656834 RCV001355387 RCV000677873 RCV001030625 RCV003448266 RCV005003475 RCV001527478 RCV004529939
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys)	SNV Germline	Chr22:28695789	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Malignant tumor of breast Hereditary breast ovarian cancer syndrome CHEK2-related cancer predisposition Familial prostate cancer Bone osteosarcoma CHEK2-related cancer predisposition not specified	Criteria Provided Conflicting Classifications	CA288262	rs_587780169	12 SubmittersRCV000115986 RCV000228584 RCV000212453 RCV001356701 RCV003483480 RCV005025182 RCV005620341 RCV003226200
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys)	SNV Germline	Chr22:28695754	Conflicting classifications of pathogenicity	Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome CHEK2-related cancer predisposition Prostate cancer Familial cancer of breast Bone osteosarcoma Hereditary breast ovarian cancer syndrome CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA288266	rs_587780171	12 SubmittersRCV000115989 RCV000199599 RCV000219945 RCV000764373 RCV004764764 RCV005359095
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)	SNV Germline	Chr22:28695232	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast CHEK2-related cancer predisposition Prostate cancer Familial cancer of breast Bone osteosarcoma Condition: not provided not specified Malignant tumor of breast CHEK2-related cancer predisposition CHEK2-related disorder Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer CHEK2-related cancer predisposition Familial prostate cancer Bone osteosarcoma	Criteria Provided Conflicting Classifications	CA288272	rs_139366548	27 SubmittersRCV000115993 RCV000197909 RCV000515214 RCV000590008 RCV001175351 RCV001355460 RCV005414455 RCV004528802 RCV004764765 RCV003492501 RCV005031610
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)	SNV Germline	Chr22:28695190	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial cancer of breast CHEK2-related cancer predisposition Prostate cancer Familial cancer of breast Bone osteosarcoma CHEK2-related cancer predisposition Condition: not provided Hereditary breast ovarian cancer syndrome Malignant tumor of breast Carcinoma of colon CHEK2-related disorder Breast and/or ovarian cancer Hereditary cancer	Criteria Provided Conflicting Classifications	CA151527	rs_200050883	34 SubmittersRCV000115996 RCV000200982 RCV000199565 RCV000515311 RCV001294021 RCV000587890 RCV003483481 RCV001269492 RCV001356041 RCV004528803 RCV001798350 RCV003492502
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)	SNV Germline	Chr22:28694073	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Lung carcinoma Prostate cancer Familial cancer of breast Carcinoma of colon Familial cancer of breast Condition: not provided CHEK2-related cancer predisposition Prostate cancer Familial cancer of breast Bone osteosarcoma not specified CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA288280	rs_540635787	21 SubmittersRCV000115999 RCV000234795 RCV000206044 RCV000588723 RCV000764370 RCV002222396 RCV003493445
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)	SNV Germline	Chr22:28694066	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Colorectal cancer Condition: not provided not specified Breast and colorectal cancer, susceptibility to Breast neoplasm Malignant tumor of breast Colon cancer Breast and/or ovarian cancer CHEK2-related cancer predisposition CHEK2-related disorder Breast carcinoma CHEK2-related cancer predisposition Bone osteosarcoma Familial prostate cancer Familial cancer of breast Familial prostate cancer Hereditary breast ovarian cancer syndrome CHEK2-related cancer predisposition Familial cancer of breast Colorectal cancer Prostate cancer	Criteria Provided Conflicting Classifications	CA288282	rs_142763740	52 SubmittersRCV000116001 RCV000198554 RCV000259876 RCV000212465 RCV000499890 RCV000210077 RCV000317389 RCV001357877 RCV001564016 RCV001798351 RCV003444200 RCV004528804 RCV001572627 RCV005025183 RCV004820830 RCV005089582 RCV005625294
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)	SNV Germline	Chr22:28689152	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided CHEK2-related cancer predisposition Prostate cancer Familial cancer of breast Bone osteosarcoma not specified CHEK2-related disorder Prostate cancer Familial cancer of breast Colorectal cancer CHEK2-related cancer predisposition Familial prostate cancer Bone osteosarcoma Li-Fraumeni syndrome Hereditary breast ovarian cancer syndrome Familial colorectal cancer type X	Criteria Provided Conflicting Classifications	CA288288	rs_587780179	17 SubmittersRCV000116004 RCV000200569 RCV000212472 RCV000764368 RCV000781300 RCV004528805 RCV003483482 RCV005025184 RCV005359096
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)	SNV Germline	Chr22:28687974	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Breast and colorectal cancer, susceptibility to Condition: not provided Hereditary breast ovarian cancer syndrome CHEK2-related cancer predisposition Breast and/or ovarian cancer Gastric cancer Familial cancer of breast Familial prostate cancer CHEK2-related cancer predisposition Familial prostate cancer Bone osteosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA288290	rs_200432447	21 SubmittersRCV000116005 RCV000471222 RCV000210124 RCV000212474 RCV000589100 RCV001705822 RCV001798352 RCV003162543 RCV004819219 RCV004796022
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)	SNV Germline	Chr22:28687973	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast not specified CHEK2-related cancer predisposition Prostate cancer Familial cancer of breast Bone osteosarcoma Condition: not provided Breast and/or ovarian cancer Predisposition to cancer CHEK2-related disorder Malignant tumor of breast Hereditary cancer Hereditary breast ovarian cancer syndrome CHEK2-related cancer predisposition Familial prostate cancer Bone osteosarcoma	Criteria Provided Conflicting Classifications	CA288294	rs_587780180	30 SubmittersRCV000116007 RCV000198277 RCV000212476 RCV000515321 RCV000586195 RCV001798353 RCV002291560 RCV004529941 RCV001357730 RCV003492503 RCV005600680 RCV005025185
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)	SNV Germline/somatic	Chr22:28734532	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Breast and colorectal cancer, susceptibility to Malignant tumor of breast Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome CHEK2-related cancer predisposition not specified Predisposition to cancer CHEK2-related cancer predisposition Familial prostate cancer Bone osteosarcoma CHEK2-related disorder Neoplasm	Criteria Provided Conflicting Classifications	CA288298	rs_141568342	39 SubmittersRCV000116009 RCV000199067 RCV000212407 RCV000210191 RCV001356247 RCV001270935 RCV002265610 RCV003338414 RCV002465520 RCV003153376 RCV005025186 RCV004528806 RCV005229913
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)	SNV Germline	Chr22:28725338	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Prostate cancer susceptibility Breast cancer, susceptibility to CHEK2-related cancer predisposition Breast and/or ovarian cancer Predisposition to cancer Malignant tumor of breast CHEK2-related cancer predisposition Familial prostate cancer Bone osteosarcoma Hereditary breast ovarian cancer syndrome CHEK2-related disorder Inherited breast cancer and ovarian cancer	Criteria Provided Multiple Submitters No Conflicts	CA288301	rs_28909982	48 SubmittersRCV000116012 RCV000204429 RCV000212414 RCV001258041 RCV001787918 RCV001798355 RCV001526815 RCV001263516 RCV005003477 RCV001374534 RCV003114263 RCV005252761
NM_007194.4(CHEK2):c.400G>C (p.Asp134His)	SNV Germline	Chr22:28725287	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast CHEK2-related cancer predisposition Prostate cancer Familial cancer of breast Colorectal cancer Bone osteosarcoma Hereditary nonpolyposis colon cancer	Criteria Provided Conflicting Classifications	CA288303	rs_372874441	12 SubmittersRCV000116013 RCV000212415 RCV000473822 RCV002477285 RCV005365002
NM_007194.4(CHEK2):c.444+1G>A	SNV Germline	Chr22:28725242	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Breast and colorectal cancer, susceptibility to Condition: not provided Breast cancer, susceptibility to Familial cancer of breast CHEK2-related cancer predisposition Bone osteosarcoma Prostate cancer Familial cancer of breast CHEK2-related cancer predisposition Malignant tumor of breast Breast carcinoma Breast and/or ovarian cancer CHEK2-related cancer predisposition Colorectal cancer Endometrial carcinoma Melanoma TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE CHEK2-related disorder Inherited breast cancer and ovarian cancer CHEK2-related cancer predisposition Bone osteosarcoma Familial prostate cancer Breast-ovarian cancer, familial, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA288309	rs_121908698	55 SubmittersRCV000116017 RCV000196718 RCV000210090 RCV000212418 RCV000501923 RCV000763475 RCV001171461 RCV001354639 RCV001554253 RCV001270936 RCV001705823 RCV002463642 RCV003128145 RCV002508922 RCV003333693 RCV004737199 RCV004772840 RCV005031611 RCV005246647
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe)	SNV Germline	Chr22:28711950	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Condition: not provided CHEK2-related cancer predisposition Prostate cancer Familial cancer of breast Colorectal cancer Bone osteosarcoma CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA288326	rs_587780189	18 SubmittersRCV000116030 RCV000212436 RCV000206871 RCV000587105 RCV002490783 RCV005359101
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)	SNV Germline	Chr22:28734664	Pathogenic/Likely pathogenic	not specified Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Familial ovarian cancer Breast carcinoma CHEK2-related cancer predisposition Inherited breast cancer and ovarian cancer CHEK2-related cancer predisposition Familial cancer of breast Familial prostate cancer Bone osteosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA158093	rs_536907995	22 SubmittersRCV000120552 RCV000255024 RCV000579628 RCV000458969 RCV001356492 RCV001640105 RCV003992188 RCV004584196 RCV004796025
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr)	SNV Germline	Chr22:28734565	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Familial cancer of breast CHEK2-related cancer predisposition Prostate cancer Familial cancer of breast Bone osteosarcoma Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 2 Li-Fraumeni syndrome CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA158095	rs_371657037	14 SubmittersRCV000120553 RCV000132037 RCV000231176 RCV000765627 RCV000766741 RCV005604779 RCV005359141 RCV005414457
NM_007194.4(CHEK2):c.953G>A (p.Arg318His)	SNV Germline	Chr22:28699893	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided CHEK2-related disorder Breast and/or ovarian cancer CHEK2-related cancer predisposition Prostate cancer Familial cancer of breast Colorectal cancer Bone osteosarcoma CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA158099	rs_143611747	17 SubmittersRCV000120557 RCV000131968 RCV000460267 RCV000656832 RCV004529998 RCV003149829 RCV002498557 RCV005359143
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)	SNV Germline	Chr22:28734439	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast not specified CHEK2-related cancer predisposition Prostate cancer Familial cancer of breast Colorectal cancer Bone osteosarcoma CHEK2-related disorder Malignant tumor of breast CHEK2-related cancer predisposition Gastric cancer Hereditary breast ovarian cancer syndrome Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA163528	rs_587781269	22 SubmittersRCV000128901 RCV000215973 RCV000232015 RCV001002335 RCV002505102 RCV004737213 RCV001354537 RCV005414460 RCV003162571 RCV002225419 RCV005406834
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)	SNV Germline	Chr22:28711946	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast CHEK2-related cancer predisposition Prostate cancer Familial cancer of breast Bone osteosarcoma Hereditary breast ovarian cancer syndrome not specified Hereditary nonpolyposis colon cancer	Criteria Provided Conflicting Classifications	CA163957	rs_587781379	13 SubmittersRCV000129204 RCV000214585 RCV000227256 RCV000765620 RCV001030685 RCV001201286 RCV005359200
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg)	SNV Germline	Chr22:28711974	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided CHEK2-related cancer predisposition not specified CHEK2-related disorder CHEK2-related cancer predisposition Familial prostate cancer Bone osteosarcoma	Criteria Provided Conflicting Classifications	CA294007	rs_141776984	14 SubmittersRCV000129205 RCV000205087 RCV000590667 RCV001292616 RCV001731481 RCV004737215 RCV005031636
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)	SNV Germline	Chr22:28694042	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Condition: not provided Breast and/or ovarian cancer Li-Fraumeni syndrome Hereditary breast ovarian cancer syndrome CHEK2-related disorder CHEK2-related cancer predisposition Familial prostate cancer Bone osteosarcoma	Criteria Provided Conflicting Classifications	CA294010	rs_564605612	16 SubmittersRCV000129213 RCV000206213 RCV000212468 RCV000590757 RCV001798435 RCV005365016 RCV004528849 RCV005003487
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys)	SNV Germline	Chr22:28687962	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast and/or ovarian cancer CHEK2-related cancer predisposition Familial prostate cancer Bone osteosarcoma not specified CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA294024	rs_149501505	14 SubmittersRCV000129321 RCV000212479 RCV000228412 RCV003492589 RCV005025207 RCV003235052 RCV004532549
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)	SNV Germline	Chr22:28694070	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast not specified Malignant tumor of breast CHEK2-related cancer predisposition Prostate cancer Familial cancer of breast Colorectal cancer Bone osteosarcoma CHEK2-related disorder Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA294041	rs_370968992	16 SubmittersRCV000129382 RCV000212464 RCV000206734 RCV000781308 RCV001356630 RCV002483259 RCV004528850 RCV004760388
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val)	SNV Germline	Chr22:28695794	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified Malignant tumor of breast CHEK2-related cancer predisposition Hereditary breast ovarian cancer syndrome CHEK2-related cancer predisposition Familial prostate cancer Bone osteosarcoma	Criteria Provided Conflicting Classifications	CA164560	rs_373073383	17 SubmittersRCV000129508 RCV000206654 RCV000589481 RCV001175352 RCV001357703 RCV003493452 RCV003483495 RCV005025208
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly)	SNV Germline	Chr22:28725084	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified Hereditary breast ovarian cancer syndrome CHEK2-related cancer predisposition Bone osteosarcoma Familial prostate cancer	Criteria Provided Conflicting Classifications	CA165091	rs_587781652	10 SubmittersRCV000129786 RCV000461401 RCV000480654 RCV000780181 RCV003993818 RCV005025209
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter)	SNV Germline	Chr22:28734506	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome CHEK2-related cancer predisposition Prostate cancer Familial cancer of breast Bone osteosarcoma Familial cancer of breast Condition: not provided Predisposition to cancer	Criteria Provided Multiple Submitters No Conflicts	CA165273	rs_587781705	8 SubmittersRCV000129876 RCV000763478 RCV001247758 RCV004998264 RCV005055075
NM_007194.4(CHEK2):c.1513T>C (p.Ser505Pro)	SNV Germline	Chr22:28689164	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast not specified CHEK2-related cancer predisposition Familial prostate cancer Bone osteosarcoma	Criteria Provided Conflicting Classifications	CA166219	rs_587781960	11 SubmittersRCV000130339 RCV000393706 RCV000475981 RCV003150950 RCV005025212
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val)	SNV Germline	Chr22:28689143	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided CHEK2-related cancer predisposition Prostate cancer Familial cancer of breast Bone osteosarcoma not specified	Criteria Provided Conflicting Classifications	CA166627	rs_17882942	10 SubmittersRCV000130543 RCV000197078 RCV000587712 RCV000764367 RCV004782245
NM_007194.4(CHEK2):c.556A>C (p.Asn186His)	SNV Germline	Chr22:28725013	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Familial cancer of breast CHEK2-related cancer predisposition Bone osteosarcoma Prostate cancer Condition: not provided not specified Endometrial carcinoma Hereditary breast ovarian cancer syndrome CHEK2-related disorder Predisposition to cancer	Criteria Provided Conflicting Classifications	CA294225	rs_146198085	25 SubmittersRCV000130733 RCV000198345 RCV000515236 RCV000589669 RCV000855592 RCV001356295 RCV002225433 RCV004532565 RCV005055077
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys)	SNV Germline	Chr22:28696960	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Familial cancer of breast CHEK2-related cancer predisposition Bone osteosarcoma Prostate cancer Malignant tumor of breast Hereditary breast ovarian cancer syndrome not specified Breast and/or ovarian cancer CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA294328	rs_201206424	23 SubmittersRCV000131219 RCV000212445 RCV000232903 RCV000764379 RCV001355624 RCV001374553 RCV002465532 RCV003492617 RCV005416111
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn)	SNV Germline	Chr22:28699915	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast CHEK2-related cancer predisposition Prostate cancer Familial cancer of breast Colorectal cancer Bone osteosarcoma not specified Hereditary nonpolyposis colon cancer	Criteria Provided Conflicting Classifications	CA294339	rs_587782347	16 SubmittersRCV000131287 RCV000212441 RCV000231753 RCV002483267 RCV002271417 RCV005365033
NM_007194.4(CHEK2):c.319+2T>A	SNV Germline	Chr22:28734401	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast CHEK2-related cancer predisposition Bone osteosarcoma Prostate cancer Familial cancer of breast Breast cancer, susceptibility to Prostate cancer susceptibility Malignant tumor of breast	Criteria Provided Multiple Submitters No Conflicts	CA294375	rs_587782401	17 SubmittersRCV000131434 RCV000212411 RCV000515447 RCV000545158 RCV001258067 RCV003492621
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)	SNV Germline	Chr22:28711994	Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome Condition: not provided CHEK2-related cancer predisposition Familial cancer of breast Hereditary breast ovarian cancer syndrome Predisposition to cancer CHEK2-related cancer predisposition Familial prostate cancer Bone osteosarcoma CHEK2-related cancer predisposition CHEK2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA294400	rs_587782471	19 SubmittersRCV000131577 RCV000199653 RCV000212433 RCV000586622 RCV000791342 RCV003153427 RCV005025215 RCV003389239 RCV004737226
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln)	SNV Germline	Chr22:28689167	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided CHEK2-related cancer predisposition Prostate cancer Familial cancer of breast Bone osteosarcoma not specified Hereditary cancer CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA168459	rs_587782489	12 SubmittersRCV000131614 RCV000198676 RCV000214263 RCV000764369 RCV001251282 RCV004700451 RCV005365035
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg)	SNV Germline	Chr22:28725070	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Breast and colorectal cancer, susceptibility to Condition: not provided Breast carcinoma Predisposition to cancer Malignant tumor of breast CHEK2-related cancer predisposition CHEK2-related cancer predisposition Bone osteosarcoma Familial prostate cancer Hereditary nonpolyposis colon cancer Hereditary breast ovarian cancer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA294427	rs_72552322	25 SubmittersRCV000131700 RCV000200030 RCV000210071 RCV000212424 RCV001554290 RCV002291570 RCV003987371 RCV004776433 RCV005025216 RCV005359279 RCV004764770
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)	SNV Germline	Chr22:28695753	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome CHEK2-related cancer predisposition Prostate cancer Familial cancer of breast Bone osteosarcoma Familial cancer of breast not specified Malignant tumor of breast Condition: not provided Breast and/or ovarian cancer CHEK2-related disorder CHEK2-related cancer predisposition Predisposition to cancer	Criteria Provided Conflicting Classifications	CA294433	rs_587782527	19 SubmittersRCV000131715 RCV000515410 RCV000228975 RCV000855593 RCV001356488 RCV000587346 RCV003492628 RCV004532574 RCV004776434 RCV005600739
NM_007194.4(CHEK2):c.592+3A>T	SNV Germline	Chr22:28724974	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Familial cancer of breast CHEK2-related cancer predisposition Breast carcinoma Hereditary breast ovarian cancer syndrome Prostate cancer CHEK2-related disorder Malignant tumor of breast CHEK2-related cancer predisposition CHEK2-related cancer predisposition Bone osteosarcoma Familial prostate cancer	Criteria Provided Multiple Submitters No Conflicts	CA294532	rs_587782849	28 SubmittersRCV000132447 RCV000228472 RCV000656830 RCV001171462 RCV001554293 RCV002468934 RCV003334383 RCV004532583 RCV004551270 RCV004760396 RCV004796033
NM_007194.4(CHEK2):c.1462-7C>G	SNV Germline	Chr22:28689222	Conflicting classifications of pathogenicity	not specified Familial cancer of breast Hereditary cancer-predisposing syndrome CHEK2-related cancer predisposition Bone osteosarcoma Familial prostate cancer Condition: not provided Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA299125	rs_730881707	9 SubmittersRCV000160460 RCV000203819 RCV000776283 RCV005394554 RCV002510799 RCV001798551
NM_007194.4(CHEK2):c.793-1G>A	SNV Germline	Chr22:28710060	Pathogenic/Likely pathogenic	Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome CHEK2-related cancer predisposition Familial cancer of breast Prostate cancer Bone osteosarcoma Colorectal cancer CHEK2-related cancer predisposition Bone osteosarcoma Familial prostate cancer Hereditary breast ovarian cancer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA299073	rs_730881687	17 SubmittersRCV000160429 RCV000464029 RCV000214915 RCV002498796 RCV005394552 RCV005055649
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)	SNV Germline	Chr22:28725278	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Bone osteosarcoma CHEK2-related cancer predisposition Prostate cancer Familial cancer of breast Congenital heart defects, multiple types, 3 Hereditary breast ovarian cancer syndrome Gastric cancer CHEK2-related cancer predisposition	Criteria Provided Multiple Submitters No Conflicts	CA299110	rs_730881701	19 SubmittersRCV000160452 RCV000229303 RCV000254656 RCV000763477 RCV001007871 RCV001526967 RCV003162676 RCV005414471
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His)	SNV Germline	Chr22:28725094	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified See cases CHEK2-related cancer predisposition Bone osteosarcoma Familial prostate cancer	Criteria Provided Conflicting Classifications	CA193390	rs_781254437	12 SubmittersRCV000165429 RCV000206006 RCV000658932 RCV001175503 RCV001537852 RCV005025260
NM_007194.4(CHEK2):c.593-1G>T	SNV Germline	Chr22:28719486	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast CHEK2-related cancer predisposition Familial cancer of breast Prostate cancer Bone osteosarcoma Colorectal cancer	Criteria Provided Multiple Submitters No Conflicts	CA336037	rs_786203229	9 SubmittersRCV000566129 RCV000195929 RCV002485316
NM_007194.4(CHEK2):c.846+1G>C	SNV Germline	Chr22:28710005	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast CHEK2-related cancer predisposition Bone osteosarcoma Familial prostate cancer CHEK2-related cancer predisposition	Criteria Provided Multiple Submitters No Conflicts	CA350863	rs_864622149	13 SubmittersRCV000218773 RCV000255179 RCV000206880 RCV005396633 RCV005414478
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro)	SNV Germline	Chr22:28695145	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast not specified Hereditary breast ovarian cancer syndrome Malignant tumor of breast Bone osteosarcoma Familial prostate cancer CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA10167674	rs_763395924	13 SubmittersRCV000215992 RCV000223343 RCV000535584 RCV000780185 RCV001030621 RCV001355832 RCV005025360
NM_007194.4(CHEK2):c.1461+1G>A	SNV Germline	Chr22:28694031	Pathogenic/Likely pathogenic	Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome CHEK2-related cancer predisposition Familial prostate cancer Bone osteosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA10588717	rs_886039629	6 SubmittersRCV000255259 RCV000468702 RCV000569979 RCV005396858
NM_000546.6(TP53):c.773A>G (p.Glu258Gly)	SNV Germline	Chr17:7674190	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Bone osteosarcoma Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16615703	rs_1060501201	4 SubmittersRCV000459389 RCV002272239 RCV004022605
NM_007194.4(CHEK2):c.1482G>C (p.Lys494Asn)	SNV Germline	Chr22:28689195	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Li-Fraumeni syndrome 1 not specified CHEK2-related cancer predisposition Bone osteosarcoma Familial prostate cancer	Criteria Provided Conflicting Classifications	CA16621043	rs_767043399	9 SubmittersRCV000485124 RCV000562793 RCV000556152 RCV001174504 RCV004689756 RCV005027547
NM_007194.4(CHEK2):c.1376-13A>G	SNV Germline	Chr22:28694130	Conflicting classifications of pathogenicity	Condition: not provided Familial cancer of breast Bone osteosarcoma Prostate cancer CHEK2-related cancer predisposition Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA16621047	rs_1064793330	8 SubmittersRCV000487384 RCV000764371 RCV000775796 RCV001865432
NM_007194.4(CHEK2):c.444+2T>C	SNV Germline	Chr22:28725241	Pathogenic/Likely pathogenic	Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Familial cancer of breast Bone osteosarcoma Prostate cancer CHEK2-related cancer predisposition	Criteria Provided Multiple Submitters No Conflicts	CA16621080	rs_560596101	10 SubmittersRCV000483398 RCV000543761 RCV000562639 RCV000763474
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)	SNV Germline	Chr22:28725270	Pathogenic	Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Familial cancer of breast CHEK2-related cancer predisposition Prostate cancer Bone osteosarcoma Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer CHEK2-related cancer predisposition Bone osteosarcoma Familial prostate cancer	Criteria Provided Multiple Submitters No Conflicts	CA411107953	rs_200917541	10 SubmittersRCV000507030 RCV000541871 RCV000572280 RCV000763476 RCV001375597 RCV003150248 RCV004796214
NM_000321.3(RB1):c.269G>T (p.Gly90Val)	SNV Germline	Chr13:48342603	Conflicting classifications of pathogenicity	Retinoblastoma Bone osteosarcoma Malignant tumor of urinary bladder Small cell lung carcinoma Retinoblastoma Hereditary cancer-predisposing syndrome Malignant tumor of urinary bladder Condition: not provided	Criteria Provided Conflicting Classifications	CA037060	rs_554727080	5 SubmittersRCV000559096 RCV000763897 RCV002438313 RCV003470733 RCV004772957
NM_000321.3(RB1):c.905C>A (p.Ser302Tyr)	SNV Germline	Chr13:48364937	Conflicting classifications of pathogenicity	Retinoblastoma Hereditary cancer-predisposing syndrome Bone osteosarcoma Malignant tumor of urinary bladder Small cell lung carcinoma Retinoblastoma	Criteria Provided Conflicting Classifications	CA388159994	rs_1208736713	5 SubmittersRCV000525153 RCV001018731 RCV005010493
NM_000321.3(RB1):c.850A>G (p.Asn284Asp)	SNV Germline	Chr13:48362946	Conflicting classifications of pathogenicity	Retinoblastoma Hereditary cancer-predisposing syndrome Bone osteosarcoma Malignant tumor of urinary bladder Small cell lung carcinoma Retinoblastoma	Criteria Provided Conflicting Classifications	CA039582	rs_761609284	5 SubmittersRCV000541240 RCV001017932 RCV000763900
NM_007194.4(CHEK2):c.1008+2T>G	SNV Germline	Chr22:28699836	Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast CHEK2-related cancer predisposition Bone osteosarcoma Familial prostate cancer	Criteria Provided Multiple Submitters No Conflicts	CA411099208	rs_1555915295	7 SubmittersRCV000575839 RCV000709597 RCV005027662
NM_007194.4(CHEK2):c.319+1G>A	SNV Germline	Chr22:28734402	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Prostate cancer susceptibility Breast cancer, susceptibility to CHEK2-related cancer predisposition Bone osteosarcoma Familial prostate cancer CHEK2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10168045	rs_765080766	9 SubmittersRCV000573370 RCV000635773 RCV001258068 RCV005398885 RCV004737837
NM_007194.4(CHEK2):c.909-2A>G	SNV Germline	Chr22:28699939	Likely pathogenic	Familial cancer of breast Hereditary cancer-predisposing syndrome Bone osteosarcoma Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA411100226	rs_1555915589	7 SubmittersRCV000576712 RCV000584150 RCV004732484 RCV003886415
NM_007194.4(CHEK2):c.793-2A>G	SNV Germline	Chr22:28710061	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast CHEK2-related cancer predisposition Bone osteosarcoma Familial prostate cancer	Criteria Provided Multiple Submitters No Conflicts	CA411102526	rs_1555920257	5 SubmittersRCV000583186 RCV001209317 RCV005392128
NM_007194.4(CHEK2):c.100C>T (p.Gln34Ter)	SNV Germline	Chr22:28734622	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Familial prostate cancer CHEK2-related cancer predisposition Bone osteosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA411091502	rs_1231012263	6 SubmittersRCV000584578 RCV000778091 RCV005034151
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter)	SNV Germline	Chr22:28711944	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast CHEK2-related cancer predisposition Familial prostate cancer CHEK2-related cancer predisposition Bone osteosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA411103191	rs_786201896	6 SubmittersRCV000584130 RCV001386328 RCV001788295 RCV005027687
NM_000321.3(RB1):c.752G>A (p.Arg251Gln)	SNV Germline	Chr13:48362848	Conflicting classifications of pathogenicity	Retinoblastoma Retinoblastoma Malignant tumor of urinary bladder Bone osteosarcoma Small cell lung carcinoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA039463	rs_772678500	4 SubmittersRCV000697570 RCV000763899 RCV002388279
NM_000321.3(RB1):c.339G>A (p.Met113Ile)	SNV Germline	Chr13:48342673	Conflicting classifications of pathogenicity	Retinoblastoma Hereditary cancer-predisposing syndrome Malignant tumor of urinary bladder Condition: not provided Malignant tumor of urinary bladder Bone osteosarcoma Small cell lung carcinoma Retinoblastoma	Criteria Provided Conflicting Classifications	CA388252479	rs_1593434250	6 SubmittersRCV000822166 RCV001020197 RCV004569769 RCV004800605 RCV005012375
NM_000321.3(RB1):c.897T>A (p.Phe299Leu)	SNV Germline	Chr13:48364929	Conflicting classifications of pathogenicity	Retinoblastoma Hereditary cancer-predisposing syndrome Retinoblastoma Malignant tumor of urinary bladder Bone osteosarcoma Small cell lung carcinoma	Criteria Provided Conflicting Classifications	CA039787	rs_772362181	4 SubmittersRCV000812372 RCV002370189 RCV005012354
NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter)	SNV Germline	Chr22:28734691	Pathogenic/Likely pathogenic	Familial cancer of breast Hereditary cancer-predisposing syndrome CHEK2-related cancer predisposition Bone osteosarcoma Familial prostate cancer	Criteria Provided Multiple Submitters No Conflicts	CA411091990	rs_1349961118	4 SubmittersRCV000821423 RCV002442757 RCV005036219
NM_000321.3(RB1):c.1240A>C (p.Ser414Arg)	SNV Germline	Chr13:48376942	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Retinoblastoma Malignant tumor of urinary bladder Bone osteosarcoma Small cell lung carcinoma Retinoblastoma	Criteria Provided Conflicting Classifications	CA249280048	rs_974956317	3 SubmittersRCV001010519 RCV001043640 RCV005012442
NM_000321.3(RB1):c.1206C>T (p.Ser402=)	SNV Germline	Chr13:48373483	Conflicting classifications of pathogenicity	Retinoblastoma Bone osteosarcoma Malignant tumor of urinary bladder Small cell lung carcinoma Retinoblastoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA027808	rs_752679968	6 SubmittersRCV001523806 RCV005012722 RCV003166626
NM_007194.4(CHEK2):c.684-2A>G	SNV Germline	Chr22:28712019	Pathogenic/Likely pathogenic	Familial cancer of breast Hereditary cancer-predisposing syndrome Colorectal cancer Familial cancer of breast Bone osteosarcoma CHEK2-related cancer predisposition Prostate cancer CHEK2-related cancer predisposition Hereditary breast ovarian cancer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA411103532	rs_2053419665	9 SubmittersRCV001377776 RCV002368214 RCV002499777 RCV005361582 RCV004764801
NM_007194.4(CHEK2):c.593-2A>C	SNV Germline	Chr22:28719487	Likely pathogenic	Familial cancer of breast CHEK2-related cancer predisposition Familial prostate cancer Bone osteosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA411105162	rs_2146007633	2 SubmittersRCV003843072 RCV005038565
NM_000321.3(RB1):c.460A>T (p.Lys154Ter)	SNV Germline	Chr13:48345159	Pathogenic	Small cell lung carcinoma Retinoblastoma Bone osteosarcoma Malignant tumor of urinary bladder	Criteria Provided Single Submitter			1 SubmittersRCV005393664

NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)

SNV
Germline

Chr22:28725099

Conflicting classifications of pathogenicity; risk factor

CHEK2-related cancer predisposition
Breast and colorectal cancer, susceptibility to
not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Gastrointestinal carcinoma
Adrenal cortex carcinoma
Malignant tumor of breast
Predisposition to cancer
Breast and/or ovarian cancer
TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL
Prostate cancer
CHEK2-related disorder
Bone osteosarcoma
CHEK2-related cancer predisposition
Familial prostate cancer
Familial cancer of breast
Bone osteosarcoma
CHEK2-related cancer predisposition
Familial prostate cancer
Familial cancer of breast
Bone osteosarcoma
CHEK2-related cancer predisposition
Colorectal cancer
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA117630

rs_17879961

43 SubmittersRCV000005936 RCV000210131 RCV000120555 RCV000116018 RCV000144596 RCV000212410 RCV000626718 RCV001358111 RCV002254675 RCV001797993 RCV003333685 RCV003447470 RCV004528085 RCV005025010 RCV005406726 RCV005406727

NM_007194.4(CHEK2):c.49G>T (p.Ala17Ser)

SNV
Somatic

Chr22:28734673

Pathogenic

Bone osteosarcoma

No Assertion Criteria Provided

CA117636

rs_137853008

1 SubmittersRCV000005943

NM_007194.4(CHEK2):c.542G>A (p.Arg181His)

SNV
Germline

Chr22:28725027

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Prostate cancer
Familial cancer of breast
Bone osteosarcoma
CHEK2-related cancer predisposition
Hereditary breast ovarian cancer syndrome
CHEK2-related cancer predisposition
not specified
Breast and/or ovarian cancer
Malignant tumor of breast
Prostate cancer
Bone osteosarcoma
CHEK2-related cancer predisposition
Familial prostate cancer
Breast-ovarian cancer, familial, susceptibility to, 2

Criteria Provided
Conflicting Classifications

CA117641

rs_121908701

22 SubmittersRCV000129670 RCV000114761 RCV000233960 RCV000765623 RCV001030688 RCV001294022 RCV001193685 RCV001797995 RCV001357854 RCV003333687 RCV005025011 RCV005604764

NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)

SNV
Germline/somatic

Chr22:28711986

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Prostate cancer
Colorectal cancer
Bone osteosarcoma
CHEK2-related cancer predisposition
Familial cancer of breast
CHEK2-related cancer predisposition
Familial cancer of breast
Prostate cancer
Predisposition to cancer
CHEK2-related disorder

Criteria Provided
Conflicting Classifications

CA117644

rs_121908702

21 SubmittersRCV000114762 RCV000131201 RCV001818140 RCV002476934 RCV004760322 RCV000205850 RCV003333689 RCV001789748 RCV004532294

NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)

SNV
Germline

Chr22:28695219

Conflicting classifications of pathogenicity

Breast cancer, susceptibility to
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Breast neoplasm
Prostate cancer
Bone osteosarcoma
CHEK2-related cancer predisposition
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
CHEK2-related cancer risk
TUMOR PREDISPOSITION SYNDROME 4, BREAST
CHEK2-related disorder
Breast and colorectal cancer, susceptibility to
Condition: not provided
Breast and/or ovarian cancer
Inherited breast cancer and ovarian cancer
CHEK2-related cancer predisposition
Familial prostate cancer
Bone osteosarcoma
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA250528

rs_137853011

37 SubmittersRCV000005953 RCV000197718 RCV000115994 RCV000388223 RCV000515286 RCV000586482 RCV001354412 RCV001449813 RCV003333691 RCV004532295 RCV000210180 RCV000212459 RCV003492287 RCV004691717 RCV005414444 RCV005025012

NM_000546.6(TP53):c.722C>T (p.Ser241Phe)

SNV
Germline/somatic

Chr17:7674241

Pathogenic/Likely pathogenic

Bone osteosarcoma
Hepatoblastoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Ovarian neoplasm
Lip and oral cavity carcinoma
Li-Fraumeni syndrome 1
Condition: not provided
12 conditions
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA000359

rs_28934573

11 SubmittersRCV000013154 RCV000013153 RCV000130168 RCV000559355 RCV000785290 RCV001255673 RCV002288485 RCV003114189 RCV002496336 RCV004668717

NM_000321.3(RB1):c.1333C>T (p.Arg445Ter)

SNV
Germline

Chr13:48379594

Pathogenic

Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Small cell lung carcinoma
Retinoblastoma
Bone osteosarcoma
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA026371

rs_3092891

7 SubmittersRCV000013946 RCV000492544 RCV002496351 RCV002508188

NM_000321.3(RB1):c.2359C>T (p.Arg787Ter)

SNV
Germline

Chr13:48465238

Pathogenic

Retinoblastoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Small cell lung carcinoma
Retinoblastoma
Bone osteosarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA026438

rs_137853293

9 SubmittersRCV000013948 RCV000760351 RCV000492108 RCV005007842

NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)

SNV
Germline/somatic

Chr13:48459708

Pathogenic

Retinoblastoma
Hereditary cancer-predisposing syndrome
Retinoblastoma
Bone osteosarcoma
Small cell lung carcinoma
Malignant tumor of urinary bladder
Condition: not provided
Vulvar adenocarcinoma of mammary gland type

Criteria Provided
Multiple Submitters
No Conflicts

CA026417

rs_137853294

13 SubmittersRCV000013962 RCV000492717 RCV000763335 RCV000790652 RCV004813036

NM_000321.3(RB1):c.607+1G>T

SNV
Germline

Chr13:48349024

Pathogenic

Retinoblastoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Small cell lung carcinoma
Retinoblastoma
Bone osteosarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA026463

rs_587776789

8 SubmittersRCV000013969 RCV000484757 RCV000492204 RCV004795405

NM_000321.3(RB1):c.628G>T (p.Asp210Tyr)

SNV
Germline

Chr13:48360037

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Retinoblastoma
Malignant tumor of urinary bladder
Small cell lung carcinoma
Retinoblastoma
Bone osteosarcoma

Criteria Provided
Conflicting Classifications

CA026464

rs_148992508

10 SubmittersRCV000034597 RCV000492290 RCV000601517 RCV001079302 RCV005394201

NM_000321.3(RB1):c.1215+1G>A

SNV
Germline/somatic

Chr13:48373493

Pathogenic

Retinoblastoma
Hereditary cancer-predisposing syndrome
Bone osteosarcoma
Small cell lung carcinoma
Retinoblastoma
Malignant tumor of urinary bladder
Malignant tumor of urinary bladder
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA026367

rs_587776783

14 SubmittersRCV000114724 RCV000492136 RCV000763334 RCV003460796 RCV005229900

NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)

SNV
Germline

Chr22:28695166

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome
CHEK2-related cancer predisposition
Prostate cancer
Familial cancer of breast
Bone osteosarcoma
Malignant tumor of breast
Breast and/or ovarian cancer
CHEK2-related cancer predisposition
Predisposition to cancer

Criteria Provided
Conflicting Classifications

CA230682

rs_121908705

19 SubmittersRCV000114765 RCV000196666 RCV000160437 RCV000449435 RCV000515378 RCV001356532 RCV001798305 RCV005414454 RCV005600660

NM_007194.4(CHEK2):c.444+1G>T

SNV
Germline

Chr22:28725242

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA230689

rs_121908698

9 SubmittersRCV000114770 RCV000199852 RCV001022484 RCV005394377

NM_007194.4(CHEK2):c.-6G>A

SNV
Germline

Chr22:28734727

Conflicting classifications of pathogenicity

Familial cancer of breast
Malignant tumor of breast
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
CHEK2-related disorder
CHEK2-related cancer predisposition
Familial cancer of breast
Familial prostate cancer
Colorectal cancer
Bone osteosarcoma

Criteria Provided
Conflicting Classifications

CA288250

rs_376995740

10 SubmittersRCV000197200 RCV001357979 RCV000590166 RCV000722128 RCV000776065 RCV004542827 RCV005406829

NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)

SNV
Germline/somatic

Chr22:28695858

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
Breast neoplasm
Hereditary breast ovarian cancer syndrome
Bone osteosarcoma
CHEK2-related cancer predisposition
Familial prostate cancer
Bone osteosarcoma
Familial cancer of breast
Lung cancer
Ovarian neoplasm
CHEK2-related disorder

Criteria Provided
Conflicting Classifications

CA288254

rs_531398630

19 SubmittersRCV000115982 RCV000212449 RCV000197709 RCV000656834 RCV001355387 RCV000677873 RCV001030625 RCV003448266 RCV005003475 RCV001527478 RCV004529939

NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys)

SNV
Germline

Chr22:28695789

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
CHEK2-related cancer predisposition
Familial prostate cancer
Bone osteosarcoma
CHEK2-related cancer predisposition
not specified

Criteria Provided
Conflicting Classifications

CA288262

rs_587780169

12 SubmittersRCV000115986 RCV000228584 RCV000212453 RCV001356701 RCV003483480 RCV005025182 RCV005620341 RCV003226200

NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys)

SNV
Germline

Chr22:28695754

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
CHEK2-related cancer predisposition
Prostate cancer
Familial cancer of breast
Bone osteosarcoma
Hereditary breast ovarian cancer syndrome
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA288266

rs_587780171

12 SubmittersRCV000115989 RCV000199599 RCV000219945 RCV000764373 RCV004764764 RCV005359095

NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)

SNV
Germline

Chr22:28695232

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
CHEK2-related cancer predisposition
Prostate cancer
Familial cancer of breast
Bone osteosarcoma
Condition: not provided
not specified
Malignant tumor of breast
CHEK2-related cancer predisposition
CHEK2-related disorder
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
CHEK2-related cancer predisposition
Familial prostate cancer
Bone osteosarcoma

Criteria Provided
Conflicting Classifications

CA288272

rs_139366548

27 SubmittersRCV000115993 RCV000197909 RCV000515214 RCV000590008 RCV001175351 RCV001355460 RCV005414455 RCV004528802 RCV004764765 RCV003492501 RCV005031610

NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)

SNV
Germline

Chr22:28695190

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
CHEK2-related cancer predisposition
Prostate cancer
Familial cancer of breast
Bone osteosarcoma
CHEK2-related cancer predisposition
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Carcinoma of colon
CHEK2-related disorder
Breast and/or ovarian cancer
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA151527

rs_200050883

34 SubmittersRCV000115996 RCV000200982 RCV000199565 RCV000515311 RCV001294021 RCV000587890 RCV003483481 RCV001269492 RCV001356041 RCV004528803 RCV001798350 RCV003492502

NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)

SNV
Germline

Chr22:28694073

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Lung carcinoma
Prostate cancer
Familial cancer of breast
Carcinoma of colon
Familial cancer of breast
Condition: not provided
CHEK2-related cancer predisposition
Prostate cancer
Familial cancer of breast
Bone osteosarcoma
not specified
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA288280

rs_540635787

21 SubmittersRCV000115999 RCV000234795 RCV000206044 RCV000588723 RCV000764370 RCV002222396 RCV003493445

NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)

SNV
Germline

Chr22:28694066

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Colorectal cancer
Condition: not provided
not specified
Breast and colorectal cancer, susceptibility to
Breast neoplasm
Malignant tumor of breast
Colon cancer
Breast and/or ovarian cancer
CHEK2-related cancer predisposition
CHEK2-related disorder
Breast carcinoma
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer
Familial cancer of breast
Familial prostate cancer
Hereditary breast ovarian cancer syndrome
CHEK2-related cancer predisposition
Familial cancer of breast
Colorectal cancer
Prostate cancer

Criteria Provided
Conflicting Classifications

CA288282

rs_142763740

52 SubmittersRCV000116001 RCV000198554 RCV000259876 RCV000212465 RCV000499890 RCV000210077 RCV000317389 RCV001357877 RCV001564016 RCV001798351 RCV003444200 RCV004528804 RCV001572627 RCV005025183 RCV004820830 RCV005089582 RCV005625294

NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)

SNV
Germline

Chr22:28689152

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
CHEK2-related cancer predisposition
Prostate cancer
Familial cancer of breast
Bone osteosarcoma
not specified
CHEK2-related disorder
Prostate cancer
Familial cancer of breast
Colorectal cancer
CHEK2-related cancer predisposition
Familial prostate cancer
Bone osteosarcoma
Li-Fraumeni syndrome
Hereditary breast ovarian cancer syndrome
Familial colorectal cancer type X

Criteria Provided
Conflicting Classifications

CA288288

rs_587780179

17 SubmittersRCV000116004 RCV000200569 RCV000212472 RCV000764368 RCV000781300 RCV004528805 RCV003483482 RCV005025184 RCV005359096

NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)

SNV
Germline

Chr22:28687974

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast and colorectal cancer, susceptibility to
Condition: not provided
Hereditary breast ovarian cancer syndrome
CHEK2-related cancer predisposition
Breast and/or ovarian cancer
Gastric cancer
Familial cancer of breast
Familial prostate cancer
CHEK2-related cancer predisposition
Familial prostate cancer
Bone osteosarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA288290

rs_200432447

21 SubmittersRCV000116005 RCV000471222 RCV000210124 RCV000212474 RCV000589100 RCV001705822 RCV001798352 RCV003162543 RCV004819219 RCV004796022

NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)

SNV
Germline

Chr22:28687973

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
CHEK2-related cancer predisposition
Prostate cancer
Familial cancer of breast
Bone osteosarcoma
Condition: not provided
Breast and/or ovarian cancer
Predisposition to cancer
CHEK2-related disorder
Malignant tumor of breast
Hereditary cancer
Hereditary breast ovarian cancer syndrome
CHEK2-related cancer predisposition
Familial prostate cancer
Bone osteosarcoma

Criteria Provided
Conflicting Classifications

CA288294

rs_587780180

30 SubmittersRCV000116007 RCV000198277 RCV000212476 RCV000515321 RCV000586195 RCV001798353 RCV002291560 RCV004529941 RCV001357730 RCV003492503 RCV005600680 RCV005025185

NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)

SNV
Germline/somatic

Chr22:28734532

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Breast and colorectal cancer, susceptibility to
Malignant tumor of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
CHEK2-related cancer predisposition
not specified
Predisposition to cancer
CHEK2-related cancer predisposition
Familial prostate cancer
Bone osteosarcoma
CHEK2-related disorder
Neoplasm

Criteria Provided
Conflicting Classifications

CA288298

rs_141568342

39 SubmittersRCV000116009 RCV000199067 RCV000212407 RCV000210191 RCV001356247 RCV001270935 RCV002265610 RCV003338414 RCV002465520 RCV003153376 RCV005025186 RCV004528806 RCV005229913

NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)

SNV
Germline

Chr22:28725338

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Prostate cancer susceptibility
Breast cancer, susceptibility to
CHEK2-related cancer predisposition
Breast and/or ovarian cancer
Predisposition to cancer
Malignant tumor of breast
CHEK2-related cancer predisposition
Familial prostate cancer
Bone osteosarcoma
Hereditary breast ovarian cancer syndrome
CHEK2-related disorder
Inherited breast cancer and ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA288301

rs_28909982

48 SubmittersRCV000116012 RCV000204429 RCV000212414 RCV001258041 RCV001787918 RCV001798355 RCV001526815 RCV001263516 RCV005003477 RCV001374534 RCV003114263 RCV005252761

NM_007194.4(CHEK2):c.400G>C (p.Asp134His)

SNV
Germline

Chr22:28725287

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
CHEK2-related cancer predisposition
Prostate cancer
Familial cancer of breast
Colorectal cancer
Bone osteosarcoma
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA288303

rs_372874441

12 SubmittersRCV000116013 RCV000212415 RCV000473822 RCV002477285 RCV005365002

NM_007194.4(CHEK2):c.444+1G>A

SNV
Germline

Chr22:28725242

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast and colorectal cancer, susceptibility to
Condition: not provided
Breast cancer, susceptibility to
Familial cancer of breast
CHEK2-related cancer predisposition
Bone osteosarcoma
Prostate cancer
Familial cancer of breast
CHEK2-related cancer predisposition
Malignant tumor of breast
Breast carcinoma
Breast and/or ovarian cancer
CHEK2-related cancer predisposition
Colorectal cancer
Endometrial carcinoma
Melanoma
TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE
CHEK2-related disorder
Inherited breast cancer and ovarian cancer
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA288309

rs_121908698

55 SubmittersRCV000116017 RCV000196718 RCV000210090 RCV000212418 RCV000501923 RCV000763475 RCV001171461 RCV001354639 RCV001554253 RCV001270936 RCV001705823 RCV002463642 RCV003128145 RCV002508922 RCV003333693 RCV004737199 RCV004772840 RCV005031611 RCV005246647

NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe)

SNV
Germline

Chr22:28711950

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided
CHEK2-related cancer predisposition
Prostate cancer
Familial cancer of breast
Colorectal cancer
Bone osteosarcoma
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA288326

rs_587780189

18 SubmittersRCV000116030 RCV000212436 RCV000206871 RCV000587105 RCV002490783 RCV005359101

NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)

SNV
Germline

Chr22:28734664

Pathogenic/Likely pathogenic

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial ovarian cancer
Breast carcinoma
CHEK2-related cancer predisposition
Inherited breast cancer and ovarian cancer
CHEK2-related cancer predisposition
Familial cancer of breast
Familial prostate cancer
Bone osteosarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA158093

rs_536907995

22 SubmittersRCV000120552 RCV000255024 RCV000579628 RCV000458969 RCV001356492 RCV001640105 RCV003992188 RCV004584196 RCV004796025

NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr)

SNV
Germline

Chr22:28734565

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
CHEK2-related cancer predisposition
Prostate cancer
Familial cancer of breast
Bone osteosarcoma
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 2
Li-Fraumeni syndrome
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA158095

rs_371657037

14 SubmittersRCV000120553 RCV000132037 RCV000231176 RCV000765627 RCV000766741 RCV005604779 RCV005359141 RCV005414457

NM_007194.4(CHEK2):c.953G>A (p.Arg318His)

SNV
Germline

Chr22:28699893

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
CHEK2-related disorder
Breast and/or ovarian cancer
CHEK2-related cancer predisposition
Prostate cancer
Familial cancer of breast
Colorectal cancer
Bone osteosarcoma
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA158099

rs_143611747

17 SubmittersRCV000120557 RCV000131968 RCV000460267 RCV000656832 RCV004529998 RCV003149829 RCV002498557 RCV005359143

NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)

SNV
Germline

Chr22:28734439

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
CHEK2-related cancer predisposition
Prostate cancer
Familial cancer of breast
Colorectal cancer
Bone osteosarcoma
CHEK2-related disorder
Malignant tumor of breast
CHEK2-related cancer predisposition
Gastric cancer
Hereditary breast ovarian cancer syndrome
Li-Fraumeni syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA163528

rs_587781269

22 SubmittersRCV000128901 RCV000215973 RCV000232015 RCV001002335 RCV002505102 RCV004737213 RCV001354537 RCV005414460 RCV003162571 RCV002225419 RCV005406834

NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)

SNV
Germline

Chr22:28711946

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
CHEK2-related cancer predisposition
Prostate cancer
Familial cancer of breast
Bone osteosarcoma
Hereditary breast ovarian cancer syndrome
not specified
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA163957

rs_587781379

13 SubmittersRCV000129204 RCV000214585 RCV000227256 RCV000765620 RCV001030685 RCV001201286 RCV005359200

NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg)

SNV
Germline

Chr22:28711974

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
CHEK2-related cancer predisposition
not specified
CHEK2-related disorder
CHEK2-related cancer predisposition
Familial prostate cancer
Bone osteosarcoma

Criteria Provided
Conflicting Classifications

CA294007

rs_141776984

14 SubmittersRCV000129205 RCV000205087 RCV000590667 RCV001292616 RCV001731481 RCV004737215 RCV005031636

NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)

SNV
Germline

Chr22:28694042

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided
Breast and/or ovarian cancer
Li-Fraumeni syndrome
Hereditary breast ovarian cancer syndrome
CHEK2-related disorder
CHEK2-related cancer predisposition
Familial prostate cancer
Bone osteosarcoma

Criteria Provided
Conflicting Classifications

CA294010

rs_564605612

16 SubmittersRCV000129213 RCV000206213 RCV000212468 RCV000590757 RCV001798435 RCV005365016 RCV004528849 RCV005003487

NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys)

SNV
Germline

Chr22:28687962

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer
CHEK2-related cancer predisposition
Familial prostate cancer
Bone osteosarcoma
not specified
CHEK2-related disorder

Criteria Provided
Conflicting Classifications

CA294024

rs_149501505

14 SubmittersRCV000129321 RCV000212479 RCV000228412 RCV003492589 RCV005025207 RCV003235052 RCV004532549

NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)

SNV
Germline

Chr22:28694070

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Malignant tumor of breast
CHEK2-related cancer predisposition
Prostate cancer
Familial cancer of breast
Colorectal cancer
Bone osteosarcoma
CHEK2-related disorder
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA294041

rs_370968992

16 SubmittersRCV000129382 RCV000212464 RCV000206734 RCV000781308 RCV001356630 RCV002483259 RCV004528850 RCV004760388

NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val)

SNV
Germline

Chr22:28695794

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Malignant tumor of breast
CHEK2-related cancer predisposition
Hereditary breast ovarian cancer syndrome
CHEK2-related cancer predisposition
Familial prostate cancer
Bone osteosarcoma

Criteria Provided
Conflicting Classifications

CA164560

rs_373073383

17 SubmittersRCV000129508 RCV000206654 RCV000589481 RCV001175352 RCV001357703 RCV003493452 RCV003483495 RCV005025208

NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly)

SNV
Germline

Chr22:28725084

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA165091

rs_587781652

10 SubmittersRCV000129786 RCV000461401 RCV000480654 RCV000780181 RCV003993818 RCV005025209

NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter)

SNV
Germline

Chr22:28734506

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
CHEK2-related cancer predisposition
Prostate cancer
Familial cancer of breast
Bone osteosarcoma
Familial cancer of breast
Condition: not provided
Predisposition to cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA165273

rs_587781705

8 SubmittersRCV000129876 RCV000763478 RCV001247758 RCV004998264 RCV005055075

NM_007194.4(CHEK2):c.1513T>C (p.Ser505Pro)

SNV
Germline

Chr22:28689164

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
CHEK2-related cancer predisposition
Familial prostate cancer
Bone osteosarcoma

Criteria Provided
Conflicting Classifications

CA166219

rs_587781960

11 SubmittersRCV000130339 RCV000393706 RCV000475981 RCV003150950 RCV005025212

NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val)

SNV
Germline

Chr22:28689143

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
CHEK2-related cancer predisposition
Prostate cancer
Familial cancer of breast
Bone osteosarcoma
not specified

Criteria Provided
Conflicting Classifications

CA166627

rs_17882942

10 SubmittersRCV000130543 RCV000197078 RCV000587712 RCV000764367 RCV004782245

NM_007194.4(CHEK2):c.556A>C (p.Asn186His)

SNV
Germline

Chr22:28725013

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
CHEK2-related cancer predisposition
Bone osteosarcoma
Prostate cancer
Condition: not provided
not specified
Endometrial carcinoma
Hereditary breast ovarian cancer syndrome
CHEK2-related disorder
Predisposition to cancer

Criteria Provided
Conflicting Classifications

CA294225

rs_146198085

25 SubmittersRCV000130733 RCV000198345 RCV000515236 RCV000589669 RCV000855592 RCV001356295 RCV002225433 RCV004532565 RCV005055077

NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys)

SNV
Germline

Chr22:28696960

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Familial cancer of breast
CHEK2-related cancer predisposition
Bone osteosarcoma
Prostate cancer
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
not specified
Breast and/or ovarian cancer
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA294328

rs_201206424

23 SubmittersRCV000131219 RCV000212445 RCV000232903 RCV000764379 RCV001355624 RCV001374553 RCV002465532 RCV003492617 RCV005416111

NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn)

SNV
Germline

Chr22:28699915

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
CHEK2-related cancer predisposition
Prostate cancer
Familial cancer of breast
Colorectal cancer
Bone osteosarcoma
not specified
Hereditary nonpolyposis colon cancer

Criteria Provided
Conflicting Classifications

CA294339

rs_587782347

16 SubmittersRCV000131287 RCV000212441 RCV000231753 RCV002483267 RCV002271417 RCV005365033

NM_007194.4(CHEK2):c.319+2T>A

SNV
Germline

Chr22:28734401

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
CHEK2-related cancer predisposition
Bone osteosarcoma
Prostate cancer
Familial cancer of breast
Breast cancer, susceptibility to
Prostate cancer susceptibility
Malignant tumor of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA294375

rs_587782401

17 SubmittersRCV000131434 RCV000212411 RCV000515447 RCV000545158 RCV001258067 RCV003492621

NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)

SNV
Germline

Chr22:28711994

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
CHEK2-related cancer predisposition
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Predisposition to cancer
CHEK2-related cancer predisposition
Familial prostate cancer
Bone osteosarcoma
CHEK2-related cancer predisposition
CHEK2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA294400

rs_587782471

19 SubmittersRCV000131577 RCV000199653 RCV000212433 RCV000586622 RCV000791342 RCV003153427 RCV005025215 RCV003389239 RCV004737226

NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln)

SNV
Germline

Chr22:28689167

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
CHEK2-related cancer predisposition
Prostate cancer
Familial cancer of breast
Bone osteosarcoma
not specified
Hereditary cancer
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA168459

rs_587782489

12 SubmittersRCV000131614 RCV000198676 RCV000214263 RCV000764369 RCV001251282 RCV004700451 RCV005365035

NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg)

SNV
Germline

Chr22:28725070

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast and colorectal cancer, susceptibility to
Condition: not provided
Breast carcinoma
Predisposition to cancer
Malignant tumor of breast
CHEK2-related cancer predisposition
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer
Hereditary nonpolyposis colon cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA294427

rs_72552322

25 SubmittersRCV000131700 RCV000200030 RCV000210071 RCV000212424 RCV001554290 RCV002291570 RCV003987371 RCV004776433 RCV005025216 RCV005359279 RCV004764770

NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)

SNV
Germline

Chr22:28695753

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
CHEK2-related cancer predisposition
Prostate cancer
Familial cancer of breast
Bone osteosarcoma
Familial cancer of breast
not specified
Malignant tumor of breast
Condition: not provided
Breast and/or ovarian cancer
CHEK2-related disorder
CHEK2-related cancer predisposition
Predisposition to cancer

Criteria Provided
Conflicting Classifications

CA294433

rs_587782527

19 SubmittersRCV000131715 RCV000515410 RCV000228975 RCV000855593 RCV001356488 RCV000587346 RCV003492628 RCV004532574 RCV004776434 RCV005600739

NM_007194.4(CHEK2):c.592+3A>T

SNV
Germline

Chr22:28724974

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Familial cancer of breast
CHEK2-related cancer predisposition
Breast carcinoma
Hereditary breast ovarian cancer syndrome
Prostate cancer
CHEK2-related disorder
Malignant tumor of breast
CHEK2-related cancer predisposition
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA294532

rs_587782849

28 SubmittersRCV000132447 RCV000228472 RCV000656830 RCV001171462 RCV001554293 RCV002468934 RCV003334383 RCV004532583 RCV004551270 RCV004760396 RCV004796033

NM_007194.4(CHEK2):c.1462-7C>G

SNV
Germline

Chr22:28689222

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Hereditary cancer-predisposing syndrome
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA299125

rs_730881707

9 SubmittersRCV000160460 RCV000203819 RCV000776283 RCV005394554 RCV002510799 RCV001798551

NM_007194.4(CHEK2):c.793-1G>A

SNV
Germline

Chr22:28710060

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
CHEK2-related cancer predisposition
Familial cancer of breast
Prostate cancer
Bone osteosarcoma
Colorectal cancer
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA299073

rs_730881687

17 SubmittersRCV000160429 RCV000464029 RCV000214915 RCV002498796 RCV005394552 RCV005055649

NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)

SNV
Germline

Chr22:28725278

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Bone osteosarcoma
CHEK2-related cancer predisposition
Prostate cancer
Familial cancer of breast
Congenital heart defects, multiple types, 3
Hereditary breast ovarian cancer syndrome
Gastric cancer
CHEK2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA299110

rs_730881701

19 SubmittersRCV000160452 RCV000229303 RCV000254656 RCV000763477 RCV001007871 RCV001526967 RCV003162676 RCV005414471

NM_007194.4(CHEK2):c.475T>C (p.Tyr159His)

SNV
Germline

Chr22:28725094

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
not specified
See cases
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA193390

rs_781254437

12 SubmittersRCV000165429 RCV000206006 RCV000658932 RCV001175503 RCV001537852 RCV005025260

NM_007194.4(CHEK2):c.593-1G>T

SNV
Germline

Chr22:28719486

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
CHEK2-related cancer predisposition
Familial cancer of breast
Prostate cancer
Bone osteosarcoma
Colorectal cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA336037

rs_786203229

9 SubmittersRCV000566129 RCV000195929 RCV002485316

NM_007194.4(CHEK2):c.846+1G>C

SNV
Germline

Chr22:28710005

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer
CHEK2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA350863

rs_864622149

13 SubmittersRCV000218773 RCV000255179 RCV000206880 RCV005396633 RCV005414478

NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro)

SNV
Germline

Chr22:28695145

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Bone osteosarcoma
Familial prostate cancer
CHEK2-related cancer predisposition

Criteria Provided
Conflicting Classifications

CA10167674

rs_763395924

13 SubmittersRCV000215992 RCV000223343 RCV000535584 RCV000780185 RCV001030621 RCV001355832 RCV005025360

NM_007194.4(CHEK2):c.1461+1G>A

SNV
Germline

Chr22:28694031

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
CHEK2-related cancer predisposition
Familial prostate cancer
Bone osteosarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA10588717

rs_886039629

6 SubmittersRCV000255259 RCV000468702 RCV000569979 RCV005396858

NM_000546.6(TP53):c.773A>G (p.Glu258Gly)

SNV
Germline

Chr17:7674190

Conflicting classifications of pathogenicity

Li-Fraumeni syndrome
Bone osteosarcoma
Li-Fraumeni syndrome 1

Criteria Provided
Conflicting Classifications

CA16615703

rs_1060501201

4 SubmittersRCV000459389 RCV002272239 RCV004022605

NM_007194.4(CHEK2):c.1482G>C (p.Lys494Asn)

SNV
Germline

Chr22:28689195

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Li-Fraumeni syndrome 1
not specified
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer

Criteria Provided
Conflicting Classifications

CA16621043

rs_767043399

9 SubmittersRCV000485124 RCV000562793 RCV000556152 RCV001174504 RCV004689756 RCV005027547

NM_007194.4(CHEK2):c.1376-13A>G

SNV
Germline

Chr22:28694130

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Bone osteosarcoma
Prostate cancer
CHEK2-related cancer predisposition
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16621047

rs_1064793330

8 SubmittersRCV000487384 RCV000764371 RCV000775796 RCV001865432

NM_007194.4(CHEK2):c.444+2T>C

SNV
Germline

Chr22:28725241

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Bone osteosarcoma
Prostate cancer
CHEK2-related cancer predisposition

Criteria Provided
Multiple Submitters
No Conflicts

CA16621080

rs_560596101

10 SubmittersRCV000483398 RCV000543761 RCV000562639 RCV000763474

NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)

SNV
Germline

Chr22:28725270

Pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast
CHEK2-related cancer predisposition
Prostate cancer
Bone osteosarcoma
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA411107953

rs_200917541

10 SubmittersRCV000507030 RCV000541871 RCV000572280 RCV000763476 RCV001375597 RCV003150248 RCV004796214

NM_000321.3(RB1):c.269G>T (p.Gly90Val)

SNV
Germline

Chr13:48342603

Conflicting classifications of pathogenicity

Retinoblastoma
Bone osteosarcoma
Malignant tumor of urinary bladder
Small cell lung carcinoma
Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA037060

rs_554727080

5 SubmittersRCV000559096 RCV000763897 RCV002438313 RCV003470733 RCV004772957

NM_000321.3(RB1):c.905C>A (p.Ser302Tyr)

SNV
Germline

Chr13:48364937

Conflicting classifications of pathogenicity

Retinoblastoma
Hereditary cancer-predisposing syndrome
Bone osteosarcoma
Malignant tumor of urinary bladder
Small cell lung carcinoma
Retinoblastoma

Criteria Provided
Conflicting Classifications

CA388159994

rs_1208736713

5 SubmittersRCV000525153 RCV001018731 RCV005010493

NM_000321.3(RB1):c.850A>G (p.Asn284Asp)

SNV
Germline

Chr13:48362946

Conflicting classifications of pathogenicity

Retinoblastoma
Hereditary cancer-predisposing syndrome
Bone osteosarcoma
Malignant tumor of urinary bladder
Small cell lung carcinoma
Retinoblastoma

Criteria Provided
Conflicting Classifications

CA039582

rs_761609284

5 SubmittersRCV000541240 RCV001017932 RCV000763900

NM_007194.4(CHEK2):c.1008+2T>G

SNV
Germline

Chr22:28699836

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA411099208

rs_1555915295

7 SubmittersRCV000575839 RCV000709597 RCV005027662

NM_007194.4(CHEK2):c.319+1G>A

SNV
Germline

Chr22:28734402

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Prostate cancer susceptibility
Breast cancer, susceptibility to
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer
CHEK2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10168045

rs_765080766

9 SubmittersRCV000573370 RCV000635773 RCV001258068 RCV005398885 RCV004737837

NM_007194.4(CHEK2):c.909-2A>G

SNV
Germline

Chr22:28699939

Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Bone osteosarcoma
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA411100226

rs_1555915589

7 SubmittersRCV000576712 RCV000584150 RCV004732484 RCV003886415

NM_007194.4(CHEK2):c.793-2A>G

SNV
Germline

Chr22:28710061

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA411102526

rs_1555920257

5 SubmittersRCV000583186 RCV001209317 RCV005392128

NM_007194.4(CHEK2):c.100C>T (p.Gln34Ter)

SNV
Germline

Chr22:28734622

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial prostate cancer
CHEK2-related cancer predisposition
Bone osteosarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA411091502

rs_1231012263

6 SubmittersRCV000584578 RCV000778091 RCV005034151

NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter)

SNV
Germline

Chr22:28711944

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
CHEK2-related cancer predisposition
Familial prostate cancer
CHEK2-related cancer predisposition
Bone osteosarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA411103191

rs_786201896

6 SubmittersRCV000584130 RCV001386328 RCV001788295 RCV005027687

NM_000321.3(RB1):c.752G>A (p.Arg251Gln)

SNV
Germline

Chr13:48362848

Conflicting classifications of pathogenicity

Retinoblastoma
Retinoblastoma
Malignant tumor of urinary bladder
Bone osteosarcoma
Small cell lung carcinoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA039463

rs_772678500

4 SubmittersRCV000697570 RCV000763899 RCV002388279

NM_000321.3(RB1):c.339G>A (p.Met113Ile)

SNV
Germline

Chr13:48342673

Conflicting classifications of pathogenicity

Retinoblastoma
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Condition: not provided
Malignant tumor of urinary bladder
Bone osteosarcoma
Small cell lung carcinoma
Retinoblastoma

Criteria Provided
Conflicting Classifications

CA388252479

rs_1593434250

6 SubmittersRCV000822166 RCV001020197 RCV004569769 RCV004800605 RCV005012375

NM_000321.3(RB1):c.897T>A (p.Phe299Leu)

SNV
Germline

Chr13:48364929

Conflicting classifications of pathogenicity

Retinoblastoma
Hereditary cancer-predisposing syndrome
Retinoblastoma
Malignant tumor of urinary bladder
Bone osteosarcoma
Small cell lung carcinoma

Criteria Provided
Conflicting Classifications

CA039787

rs_772362181

4 SubmittersRCV000812372 RCV002370189 RCV005012354

NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter)

SNV
Germline

Chr22:28734691

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
CHEK2-related cancer predisposition
Bone osteosarcoma
Familial prostate cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA411091990

rs_1349961118

4 SubmittersRCV000821423 RCV002442757 RCV005036219

NM_000321.3(RB1):c.1240A>C (p.Ser414Arg)

SNV
Germline

Chr13:48376942

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Retinoblastoma
Malignant tumor of urinary bladder
Bone osteosarcoma
Small cell lung carcinoma
Retinoblastoma

Criteria Provided
Conflicting Classifications

CA249280048

rs_974956317

3 SubmittersRCV001010519 RCV001043640 RCV005012442

NM_000321.3(RB1):c.1206C>T (p.Ser402=)

SNV
Germline

Chr13:48373483

Conflicting classifications of pathogenicity

Retinoblastoma
Bone osteosarcoma
Malignant tumor of urinary bladder
Small cell lung carcinoma
Retinoblastoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA027808

rs_752679968

6 SubmittersRCV001523806 RCV005012722 RCV003166626

NM_007194.4(CHEK2):c.684-2A>G

SNV
Germline

Chr22:28712019

Pathogenic/Likely pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Colorectal cancer
Familial cancer of breast
Bone osteosarcoma
CHEK2-related cancer predisposition
Prostate cancer
CHEK2-related cancer predisposition
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA411103532

rs_2053419665

9 SubmittersRCV001377776 RCV002368214 RCV002499777 RCV005361582 RCV004764801

NM_007194.4(CHEK2):c.593-2A>C

SNV
Germline

Chr22:28719487

Likely pathogenic

Familial cancer of breast
CHEK2-related cancer predisposition
Familial prostate cancer
Bone osteosarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA411105162

rs_2146007633