Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000051.4(ATM):c.5763-1050A>G	SNV Germline	Chr11:108309110	Pathogenic	Ataxia - telangiectasia variant Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome Breast and/or ovarian cancer Familial cancer of breast ATM-related disorder ATM-related cancer predisposition	Reviewed By Expert Panel	CA115927	rs_774925473	17 SubmittersRCV000003157 RCV000229886 RCV000494077 RCV000724150 RCV002496239 RCV003149561 RCV003466789 RCV004739283 RCV005000979
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys)	SNV Germline	Chr11:108345804	Conflicting classifications of pathogenicity	Ataxia - telangiectasia variant Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA115928	rs_121434216	6 SubmittersRCV000003158 RCV000581067 RCV000628126 RCV003230344 RCV003231072 RCV003460407
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)	SNV Germline/somatic	Chr11:108329202	Pathogenic	T-cell prolymphocytic leukemia Breast cancer, susceptibility to Ataxia - telangiectasia variant Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Breast neoplasm Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast Breast and/or ovarian cancer Inherited breast cancer and ovarian cancer NICE approved PARP inhibitor treatment ATM-related disorder	Reviewed By Expert Panel	CA115930	rs_28904921	32 SubmittersRCV000003160 RCV000003161 RCV000003159 RCV000115244 RCV000168223 RCV000212060 RCV000417259 RCV000515429 RCV000709707 RCV003149562 RCV004584137 RCV004584175 RCV004739284
NM_000051.4(ATM):c.103C>T (p.Arg35Ter)	SNV Germline	Chr11:108227806	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast See cases	Criteria Provided Multiple Submitters No Conflicts	CA166087	rs_55861249	23 SubmittersRCV000003164 RCV000130278 RCV000236608 RCV000515417 RCV003466790 RCV004797749
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter)	SNV Germline/somatic	Chr11:108365476	Pathogenic	Ataxia-telangiectasia without immunodeficiency Ataxia-telangiectasia syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Familial cancer of breast Ataxia-telangiectasia syndrome Malignant tumor of urinary bladder	Reviewed By Expert Panel	CA115937	rs_121434219	14 SubmittersRCV000003168 RCV000199061 RCV000485169 RCV000493958 RCV002221466 RCV002476914 RCV003332073
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)	SNV Germline	Chr11:108281168	Pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer Familial cancer of breast Malignant tumor of pancreas Familial cancer of breast Ataxia-telangiectasia syndrome ATM-related cancer predisposition	Reviewed By Expert Panel	CA193897	rs_587776551	25 SubmittersRCV000003174 RCV000165646 RCV000236731 RCV001797990 RCV002467434 RCV004554582 RCV004819202 RCV005000980
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)	SNV Germline	Chr11:108330233	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast and/or ovarian cancer Carcinoma of pancreas Tip-toe gait See cases	Criteria Provided Multiple Submitters No Conflicts	CA325513	rs_121434220	23 SubmittersRCV000003175 RCV000220229 RCV000484232 RCV001250440 RCV001270953 RCV001391206 RCV003318492 RCV004797750
NM_000051.4(ATM):c.4081C>T (p.Gln1361Ter)	SNV Germline/somatic	Chr11:108287687	Pathogenic	Mantle cell lymphoma Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA249428	rs_121434222	3 SubmittersRCV000003182 RCV000524615 RCV004018543
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter)	SNV Germline/somatic	Chr11:108301779	Pathogenic	T-cell prolymphocytic leukemia Ataxia-telangiectasia syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA115949	rs_121434223	6 SubmittersRCV000003183 RCV000814605 RCV003155908 RCV003362659
NM_000051.4(ATM):c.2250G>A (p.Lys750=)	SNV Germline	Chr11:108256340	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast Malignant tumor of breast	Criteria Provided Multiple Submitters No Conflicts	CA286741	rs_1137887	28 SubmittersRCV000003185 RCV000115149 RCV000235101 RCV000762817 RCV001171385 RCV001354985
NM_000051.4(ATM):c.8030A>G (p.Tyr2677Cys)	SNV Germline	Chr11:108334988	Likely pathogenic	Ataxia - telangiectasia variant Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA249431	rs_28942103	4 SubmittersRCV000003186 RCV000545206 RCV001027090 RCV004018544
NM_000051.4(ATM):c.496+5G>A	SNV Germline	Chr11:108235839	Pathogenic/Likely pathogenic	Ataxia - telangiectasia variant Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA115952	rs_796051858	11 SubmittersRCV000003188 RCV000235952 RCV000213739 RCV000558736 RCV001249854 RCV003466791
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe)	SNV Germline	Chr7:140778053	Pathogenic	Cardiofaciocutaneous syndrome 1 Cardio-facio-cutaneous syndrome Cardio-facio-cutaneous syndrome Noonan syndrome Condition: not provided RASopathy Ataxia-telangiectasia syndrome BRAF-related disorder Cardiovascular phenotype	Reviewed By Expert Panel	CA273414	rs_180177036	13 SubmittersRCV000015009 RCV000208764 RCV000211749 RCV000680805 RCV001172276 RCV001849264 RCV003415705 RCV004018629
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)	SNV Germline	Chr11:108317374	Pathogenic/Likely pathogenic	Ataxia - telangiectasia variant Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Ataxia-telangiectasia syndrome Familial cancer of breast Condition: not provided Malignant tumor of breast Familial cancer of breast Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA130514	rs_397514577	18 SubmittersRCV000032965 RCV000166627 RCV000258124 RCV000762825 RCV001268054 RCV001356731 RCV001762078 RCV003492323 RCV004760349
NM_004333.6(BRAF):c.1411G>T (p.Val471Phe)	SNV Germline	Chr7:140781597	Pathogenic/Likely pathogenic	Condition: not provided RASopathy Ataxia-telangiectasia syndrome	Criteria Provided Multiple Submitters No Conflicts	CA281968	rs_121913376	3 SubmittersRCV000033308 RCV000654957 RCV002051798
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)	SNV Germline	Chr11:108247071	Conflicting classifications of pathogenicity	Condition: not provided not specified Malignant tumor of breast Familial cancer of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA286702	rs_138398778	20 SubmittersRCV000656756 RCV000780894 RCV001356891 RCV001762215 RCV000115130 RCV000168399
NM_000051.4(ATM):c.1010G>A (p.Arg337His)	SNV Germline	Chr11:108247072	Conflicting classifications of pathogenicity	not specified Familial cancer of breast Malignant tumor of breast Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA286705	rs_202160435	19 SubmittersRCV001174655 RCV001257472 RCV001354564 RCV003492451 RCV000115131 RCV000204640 RCV000211955
NM_000051.4(ATM):c.1132A>G (p.Ser378Gly)	SNV Germline	Chr11:108248999	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA286711	rs_587779811	5 SubmittersRCV000477027 RCV000561450 RCV003479006 RCV000115134
NM_000051.4(ATM):c.1138T>A (p.Tyr380Asn)	SNV Germline	Chr11:108249005	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA286714	rs_34083085	9 SubmittersRCV000464763 RCV000590112 RCV004589554 RCV004767076 RCV000115135
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)	SNV Germline	Chr11:108249096	Conflicting classifications of pathogenicity	Condition: not provided Carcinoma of colon Breast and/or ovarian cancer ATM-related disorder Familial cancer of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified	Criteria Provided Conflicting Classifications	CA157210	rs_56128736	30 SubmittersRCV000590142 RCV001356635 RCV001798307 RCV004549538 RCV004589555 RCV000115136 RCV000119195 RCV000120171
NM_000051.4(ATM):c.1235G>A (p.Trp412Ter)	SNV Germline	Chr11:108249102	Pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Malignant tumor of breast Familial cancer of breast Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA286720	rs_587779813	6 SubmittersRCV000567498 RCV001038728 RCV001358353 RCV004019605 RCV000115138
NM_000051.4(ATM):c.125A>G (p.His42Arg)	SNV Germline	Chr11:108227828	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Malignant tumor of breast Familial cancer of breast Ovarian cancer Breast and/or ovarian cancer ATM-related disorder Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA286723	rs_201773026	15 SubmittersRCV000231946 RCV001030450 RCV001719857 RCV001358550 RCV003315633 RCV003153366 RCV003492452 RCV004739385 RCV000115139 RCV000211940
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)	SNV Germline	Chr11:108250804	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Breast cancer, susceptibility to Familial cancer of breast Gastric cancer Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274271	rs_587779815	16 SubmittersRCV001258117 RCV003460799 RCV003162534 RCV000115141 RCV000169409 RCV000211960
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)	SNV Germline	Chr11:108250909	Conflicting classifications of pathogenicity	not specified Familial cancer of breast ATM-related disorder Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA286729	rs_202173660	20 SubmittersRCV000779759 RCV001762217 RCV004739386 RCV000115142 RCV000197378 RCV000211962
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys)	SNV Germline	Chr11:108250981	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Familial cancer of breast not specified Familial cancer of breast Breast and/or ovarian cancer ATM-related disorder Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA286732	rs_587779816	15 SubmittersRCV000515225 RCV001818258 RCV003237336 RCV003149791 RCV004549539 RCV000115143 RCV000168231 RCV000211963
NM_000051.4(ATM):c.170G>A (p.Trp57Ter)	SNV Germline	Chr11:108227873	Pathogenic	Familial cancer of breast Ataxia-telangiectasia syndrome Breast cancer, susceptibility to Ataxia-telangiectasia syndrome Malignant tumor of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA286735	rs_587779818	17 SubmittersRCV001257476 RCV001258115 RCV001509557 RCV000115145 RCV000197540 RCV000211942
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)	SNV Germline	Chr11:108251973	Conflicting classifications of pathogenicity	Condition: not provided Malignant tumor of breast Breast and/or ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified	Criteria Provided Conflicting Classifications	CA151457	rs_2235006	32 SubmittersRCV000588398 RCV001269378 RCV001798308 RCV003315634 RCV000115146 RCV000122822 RCV000120118
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)	SNV Germline	Chr11:108252824	Conflicting classifications of pathogenicity	Condition: not provided Familial cancer of breast Hereditary breast ovarian cancer syndrome Malignant tumor of breast Breast and/or ovarian cancer ATM-related disorder Hereditary cancer-predisposing syndrome not specified Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA157068	rs_2227922	37 SubmittersRCV000590282 RCV001197813 RCV001374543 RCV001356948 RCV001798309 RCV004549541 RCV000115147 RCV000120119 RCV000122824
NM_000051.4(ATM):c.202A>G (p.Ile68Val)	SNV Germline	Chr11:108229194	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Familial cancer of breast Condition: not provided Carcinoma of colon Breast and/or ovarian cancer Familial cancer of breast ATM-related disorder Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA286738	rs_35389822	15 SubmittersRCV000515328 RCV000587881 RCV001355668 RCV003149792 RCV003467020 RCV004739387 RCV000115148 RCV000199503
NM_000051.4(ATM):c.2275A>G (p.Ser759Gly)	SNV Germline	Chr11:108257505	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Familial cancer of breast Condition: not provided Breast and/or ovarian cancer not specified Familial cancer of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA286747	rs_148705269	15 SubmittersRCV000515206 RCV000589762 RCV001798310 RCV002469010 RCV003460800 RCV000115151 RCV000205470
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)	SNV Germline	Chr11:108257519	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Familial cancer of breast Condition: not provided Familial ovarian cancer Breast and/or ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified	Criteria Provided Conflicting Classifications	CA286750	rs_34231402	25 SubmittersRCV000515303 RCV000588896 RCV001355251 RCV001798311 RCV004589556 RCV000115152 RCV000122834 RCV000211979
NM_000051.4(ATM):c.2333A>G (p.Asn778Ser)	SNV Germline	Chr11:108257563	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA286753	rs_587779820	9 SubmittersRCV000589935 RCV000115153 RCV000195938
NM_000051.4(ATM):c.2564T>C (p.Met855Thr)	SNV Germline	Chr11:108267268	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast Condition: not provided	Criteria Provided Conflicting Classifications	CA286763	rs_587779824	6 SubmittersRCV000565873 RCV000698456 RCV002288587 RCV000115158
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp)	SNV Germline	Chr11:108267312	Conflicting classifications of pathogenicity	not specified Ataxia-telangiectasia syndrome Familial cancer of breast Condition: not provided Malignant tumor of breast Familial cancer of breast ATM-related disorder Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA286769	rs_61734354	16 SubmittersRCV000211984 RCV000767896 RCV000858203 RCV001354304 RCV004589558 RCV004549542 RCV000115160 RCV000168041
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr)	SNV Germline	Chr11:108267334	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome not specified Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA286772	rs_370269552	10 SubmittersRCV001083203 RCV001174578 RCV002288588 RCV000115161 RCV000211985
NM_000051.4(ATM):c.2638+2T>C	SNV Germline	Chr11:108267344	Pathogenic/Likely pathogenic	Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA286775	rs_587779826	13 SubmittersRCV000211986 RCV000477335 RCV001171402 RCV003330437 RCV000115162
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp)	SNV Germline	Chr11:108268541	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast not specified Familial cancer of breast ATM-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA286776	rs_55723361	20 SubmittersRCV000232085 RCV000590158 RCV000763692 RCV001549271 RCV002288589 RCV004739388 RCV000115163
NM_000051.4(ATM):c.2919A>G (p.Leu973=)	SNV Germline	Chr11:108271144	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Malignant tumor of breast not specified Familial cancer of breast ATM-related disorder Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA286785	rs_587779829	11 SubmittersRCV000463962 RCV001355592 RCV004525873 RCV004589559 RCV004549544 RCV000115166 RCV000211990
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)	SNV Germline	Chr11:108271261	Conflicting classifications of pathogenicity	not specified Condition: not provided Malignant tumor of breast Breast and/or ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA286788	rs_139552233	29 SubmittersRCV000211991 RCV000584904 RCV001356395 RCV001798313 RCV004589560 RCV000115167 RCV000119220
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)	SNV Germline	Chr11:108229287	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Familial cancer of breast Condition: not provided not specified Familial cancer of breast ATM-related disorder Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA286794	rs_137882485	19 SubmittersRCV000515313 RCV000588846 RCV000855626 RCV001293035 RCV004739389 RCV000115169 RCV000196996
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser)	SNV Germline	Chr11:108271343	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Familial cancer of breast Condition: not provided Ataxia-telangiectasia syndrome Malignant tumor of breast Familial cancer of breast Breast and/or ovarian cancer ATM-related disorder Hereditary cancer Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA208751	rs_146531614	22 SubmittersRCV000515446 RCV000588986 RCV001079613 RCV001354960 RCV002291557 RCV003492454 RCV004549545 RCV004700416 RCV000115171 RCV000194529
NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr)	SNV Germline	Chr11:108272743	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Ataxia-telangiectasia syndrome Familial cancer of breast not specified Hereditary breast ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA204829	rs_370282831	9 SubmittersRCV000465718 RCV000515253 RCV000779787 RCV001249849 RCV003467024 RCV000115172 RCV000211995
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)	SNV Germline	Chr11:108229312	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Familial cancer of breast Condition: not provided not specified Malignant tumor of breast Hereditary breast ovarian cancer syndrome Familial cancer of breast ATM-related disorder Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA286800	rs_142358238	18 SubmittersRCV000515352 RCV000589242 RCV001260261 RCV001357199 RCV002225317 RCV004589561 RCV004549546 RCV000115173 RCV000198992
NM_000051.4(ATM):c.334G>A (p.Ala112Thr)	SNV Germline	Chr11:108235672	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Familial cancer of breast Condition: not provided Malignant tumor of breast Hereditary breast ovarian cancer syndrome ATM-related disorder Familial cancer of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified	Criteria Provided Conflicting Classifications	CA286806	rs_146382972	15 SubmittersRCV000515264 RCV000588561 RCV001354149 RCV002225318 RCV004549547 RCV004589562 RCV000115175 RCV000195412 RCV000211948
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter)	SNV Germline	Chr11:108279578	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Familial cancer of breast Breast and/or ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA274336	rs_587779833	12 SubmittersRCV000515217 RCV003492455 RCV003467025 RCV000115176 RCV000169463 RCV000211999
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr)	SNV Germline	Chr11:108281041	Conflicting classifications of pathogenicity	not specified Familial cancer of breast Condition: not provided Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA286809	rs_555219189	10 SubmittersRCV001818259 RCV003338413 RCV000115177 RCV000199179 RCV000215488
NM_000051.4(ATM):c.3836G>A (p.Trp1279Ter)	SNV Germline	Chr11:108284316	Pathogenic	Ataxia-telangiectasia syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA286819	rs_587779836	6 SubmittersRCV001274265 RCV004019606 RCV000115181 RCV000212003
NM_000051.4(ATM):c.3931C>T (p.Gln1311Ter)	SNV Germline	Chr11:108284411	Pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA286822	rs_200976093	3 SubmittersRCV000492834 RCV003500505 RCV000115183
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)	SNV Germline	Chr11:108287666	Conflicting classifications of pathogenicity	Condition: not provided Malignant tumor of breast Hereditary cancer ATM-related disorder Familial cancer of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified	Criteria Provided Conflicting Classifications	CA206573	rs_145119475	21 SubmittersRCV000656759 RCV001354169 RCV003492456 RCV004549549 RCV004589563 RCV000115184 RCV000168271 RCV000193232
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)	SNV Germline	Chr11:108287672	Conflicting classifications of pathogenicity	Condition: not provided Malignant tumor of breast Ataxia-telangiectasia syndrome Familial cancer of breast Breast and/or ovarian cancer ATM-related disorder Familial cancer of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified	Criteria Provided Conflicting Classifications	CA286825	rs_147600485	18 SubmittersRCV000586490 RCV001358328 RCV001535806 RCV003492457 RCV004739390 RCV004589564 RCV000115185 RCV000122846 RCV000212008
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)	SNV Germline	Chr11:108289015	Conflicting classifications of pathogenicity	Condition: not provided Ataxia-telangiectasia syndrome not specified Malignant tumor of breast See cases Familial cancer of breast ATM-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA286831	rs_141087784	22 SubmittersRCV000212009 RCV000459643 RCV000780883 RCV001354350 RCV002251983 RCV003474711 RCV004549550 RCV000115187
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)	SNV Germline	Chr11:108289689	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Familial cancer of breast Condition: not provided not specified Familial cancer of breast Malignant tumor of breast Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome ATM-related disorder Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA286840	rs_201666889	25 SubmittersRCV000515173 RCV000586538 RCV000855627 RCV001257491 RCV001355810 RCV003149793 RCV003482131 RCV004549551 RCV000115190 RCV000168302
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)	SNV Germline	Chr11:108289727	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome not specified Familial cancer of breast ATM-related disorder Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA286843	rs_148993589	19 SubmittersRCV001080906 RCV001193007 RCV001257478 RCV004739391 RCV000115191 RCV000212012
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg)	SNV Germline	Chr11:108289740	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Familial cancer of breast Condition: not provided Hereditary breast ovarian cancer syndrome not specified Familial cancer of breast ATM-related disorder Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA286846	rs_145667735	17 SubmittersRCV000515274 RCV000586694 RCV001249852 RCV001824608 RCV003460803 RCV004549552 RCV000115192 RCV000196015
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)	SNV Germline	Chr11:108289753	Conflicting classifications of pathogenicity	Condition: not provided Malignant tumor of breast Familial cancer of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified	Criteria Provided Conflicting Classifications	CA151463	rs_138327406	23 SubmittersRCV000588436 RCV001356026 RCV004589565 RCV000115193 RCV000122848 RCV000120139
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile)	SNV Germline	Chr11:108289767	Conflicting classifications of pathogenicity	Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome not specified Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA157119	rs_369903995	14 SubmittersRCV000656760 RCV001249853 RCV003467026 RCV000115194 RCV000120138 RCV000199082
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val)	SNV Germline	Chr11:108289779	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Familial cancer of breast Condition: not provided Familial cancer of breast Hereditary breast ovarian cancer syndrome Hereditary cancer not specified ATM-related disorder Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA286849	rs_539676759	17 SubmittersRCV000515407 RCV000588453 RCV001257473 RCV002225319 RCV003492458 RCV002509222 RCV004739392 RCV000115195 RCV000206408
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)	SNV Germline	Chr11:108289789	Conflicting classifications of pathogenicity	Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast Malignant tumor of breast Breast and/or ovarian cancer ATM-related disorder Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified	Criteria Provided Conflicting Classifications	CA286855	rs_34640941	27 SubmittersRCV000590782 RCV001250427 RCV001281009 RCV001355381 RCV001798316 RCV004549553 RCV000115197 RCV000122849 RCV000212017
NM_000051.4(ATM):c.4606A>G (p.Lys1536Glu)	SNV Germline	Chr11:108292788	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Condition: not provided not specified ATM-related disorder Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA286858	rs_587779841	10 SubmittersRCV000465699 RCV000679122 RCV003114258 RCV004549554 RCV004589566 RCV000115198
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)	SNV Germline	Chr11:108293410	Conflicting classifications of pathogenicity	Condition: not provided Familial cancer of breast Malignant tumor of breast Breast and/or ovarian cancer ATM-related disorder Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified	Criteria Provided Conflicting Classifications	CA286861	rs_140856217	31 SubmittersRCV000586056 RCV001197709 RCV001354496 RCV001798317 RCV004549555 RCV000115199 RCV000122851 RCV000212021
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val)	SNV Germline	Chr11:108299717	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Ataxia-telangiectasia syndrome Familial cancer of breast Familial cancer of breast Condition: not provided Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA286867	rs_375131360	12 SubmittersRCV000561604 RCV001171473 RCV002490773 RCV003315637 RCV000115202 RCV000206394
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)	SNV Germline	Chr11:108299779	Conflicting classifications of pathogenicity	Condition: not provided Malignant tumor of breast Breast and/or ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified	Criteria Provided Conflicting Classifications	CA157131	rs_1800059	31 SubmittersRCV000679127 RCV001354566 RCV001798318 RCV004589567 RCV000115204 RCV000119119 RCV000120143
NM_000051.4(ATM):c.5089A>G (p.Thr1697Ala)	SNV Germline	Chr11:108299797	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Familial cancer of breast not specified Malignant tumor of breast Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome ATM-related disorder Familial cancer of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA286873	rs_142455912	12 SubmittersRCV000515379 RCV000779803 RCV001354115 RCV001798319 RCV002225320 RCV004549556 RCV004589568 RCV000115205 RCV000200336 RCV000212027
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu)	SNV Germline	Chr11:108301655	Conflicting classifications of pathogenicity	Condition: not provided Familial cancer of breast not specified ATM-related disorder Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA286876	rs_3092907	21 SubmittersRCV000589866 RCV001262810 RCV002307394 RCV004739393 RCV000115206 RCV000204511
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile)	SNV Germline	Chr11:108301698	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Ataxia-telangiectasia syndrome	Criteria Provided Multiple Submitters No Conflicts	CA286882	rs_587779844	11 SubmittersRCV000220146 RCV003460805 RCV000115208 RCV000168297
NM_000051.4(ATM):c.5489T>C (p.Met1830Thr)	SNV Germline	Chr11:108303022	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Familial cancer of breast not specified Familial cancer of breast ATM-related disorder Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA286894	rs_145812395	14 SubmittersRCV001281031 RCV001804843 RCV003460806 RCV004549558 RCV000115213 RCV000167908 RCV000212029
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)	SNV Germline	Chr11:108310218	Conflicting classifications of pathogenicity	Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast not specified Familial cancer of breast Breast and/or ovarian cancer ATM-related disorder Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA286904	rs_147187700	23 SubmittersRCV000223979 RCV000515219 RCV000780923 RCV001293033 RCV003149795 RCV004739394 RCV000115217 RCV000167876
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)	SNV Germline	Chr11:108310279	Conflicting classifications of pathogenicity	Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast not specified Breast carcinoma Familial cancer of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA286907	rs_56399311	15 SubmittersRCV000589184 RCV000763707 RCV001263508 RCV001799619 RCV003237337 RCV000115218 RCV000195828
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)	SNV Germline	Chr11:108312424	Pathogenic	Ataxia-telangiectasia syndrome Familial cancer of breast Ataxia-telangiectasia syndrome Breast cancer, susceptibility to Breast and/or ovarian cancer Familial cancer of breast ATM-related disorder Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA286910	rs_587779852	32 SubmittersRCV000515323 RCV001258122 RCV001270929 RCV001310112 RCV004549559 RCV000115219 RCV000205725 RCV000212035
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)	SNV Germline	Chr11:108312467	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Familial cancer of breast Condition: not provided Malignant tumor of breast Breast and/or ovarian cancer Hereditary cancer Hereditary breast ovarian cancer syndrome ATM-related disorder Familial cancer of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified	Criteria Provided Conflicting Classifications	CA286913	rs_150757822	28 SubmittersRCV000515391 RCV000588284 RCV001358376 RCV003492461 RCV003492462 RCV003482132 RCV004549560 RCV004589569 RCV000115220 RCV000122863 RCV000212036
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)	SNV Germline	Chr11:108315883	Conflicting classifications of pathogenicity	Condition: not provided Familial cancer of breast Malignant tumor of breast Breast and/or ovarian cancer Tip-toe gait Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA157150	rs_11212587	33 SubmittersRCV000513642 RCV001253480 RCV001356569 RCV001798320 RCV002225322 RCV002225321 RCV000115221 RCV000120151 RCV000122864
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter)	SNV Germline	Chr11:108316015	Pathogenic/Likely pathogenic	Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Multiple Submitters No Conflicts	CA286916	rs_532480170	18 SubmittersRCV000235108 RCV001762221 RCV000115222 RCV000122867
NM_000051.4(ATM):c.6101G>A (p.Arg2034Gln)	SNV Germline	Chr11:108316016	Conflicting classifications of pathogenicity	Condition: not provided Ataxia-telangiectasia syndrome Malignant tumor of breast Familial cancer of breast not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA286919	rs_3218670	9 SubmittersRCV000212038 RCV000457673 RCV001358622 RCV002288590 RCV003320457 RCV000115223
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)	SNV Germline	Chr11:108244066	Conflicting classifications of pathogenicity	Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast not specified Ataxia-telangiectasia syndrome Malignant tumor of breast Breast and/or ovarian cancer Familial cancer of breast ATM-related disorder Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA286922	rs_147915571	22 SubmittersRCV000235097 RCV000764935 RCV001193006 RCV001535620 RCV001798321 RCV003335103 RCV004549561 RCV000115224 RCV000122868
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile)	SNV Germline	Chr11:108316091	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer Familial cancer of breast ATM-related disorder Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA286928	rs_144761622	14 SubmittersRCV000212040 RCV000588663 RCV002225323 RCV003492463 RCV004589570 RCV004549562 RCV000115226 RCV000196722
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp)	SNV Germline	Chr11:108321391	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer ATM-related disorder Familial cancer of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA286937	rs_138828590	14 SubmittersRCV000212044 RCV000587205 RCV002225324 RCV003492464 RCV004549564 RCV004589571 RCV000115230 RCV000196735
NM_000051.4(ATM):c.6572+1G>A	SNV Germline	Chr11:108321421	Pathogenic/Likely pathogenic	Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA286940	rs_587779856	5 SubmittersRCV000212046 RCV000410003 RCV004019607 RCV000115231
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala)	SNV Germline	Chr11:108326110	Conflicting classifications of pathogenicity	Condition: not provided Familial cancer of breast Breast and/or ovarian cancer not specified ATM-related disorder Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA286944	rs_1800061	19 SubmittersRCV000588207 RCV000757936 RCV001798322 RCV002281932 RCV004549565 RCV000115233 RCV000168356
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)	SNV Germline	Chr11:108326169	Conflicting classifications of pathogenicity	Condition: not provided Ataxia-telangiectasia syndrome Malignant tumor of breast Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA157162	rs_56009889	28 SubmittersRCV000586678 RCV000988720 RCV001354648 RCV003492465 RCV000115235 RCV000120155
NM_000051.4(ATM):c.6974C>T (p.Ala2325Val)	SNV Germline	Chr11:108326224	Conflicting classifications of pathogenicity	not specified Ataxia-telangiectasia syndrome Familial cancer of breast Familial cancer of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA286950	rs_200940211	13 SubmittersRCV001375520 RCV002477275 RCV003460809 RCV000115236 RCV000122881 RCV000212052
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val)	SNV Germline	Chr11:108327657	Conflicting classifications of pathogenicity	Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer ATM-related disorder Familial cancer of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified	Criteria Provided Conflicting Classifications	CA286954	rs_148432863	20 SubmittersRCV000587802 RCV002225325 RCV003492466 RCV004549566 RCV004589572 RCV000115238 RCV000122882 RCV000212054
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys)	SNV Germline	Chr11:108327667	Conflicting classifications of pathogenicity	Condition: not provided Ataxia-telangiectasia syndrome not specified Hepatoblastoma Breast and/or ovarian cancer ATM-related disorder Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA286957	rs_150503164	12 SubmittersRCV000212056 RCV001079437 RCV001201251 RCV001843477 RCV003492467 RCV004549567 RCV004589573 RCV000115239
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile)	SNV Germline	Chr11:108327667	Conflicting classifications of pathogenicity	Condition: not provided not specified ATM-related disorder Familial cancer of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA286960	rs_150503164	10 SubmittersRCV000590099 RCV000855568 RCV004549568 RCV004589574 RCV000115240 RCV000206376
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu)	SNV Germline	Chr11:108329112	Likely pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified Ataxia-telangiectasia syndrome Familial cancer of breast Familial cancer of breast Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA286966	rs_587779861	11 SubmittersRCV000494662 RCV000534806 RCV001171474 RCV002483185 RCV003467031 RCV000115242
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)	SNV Germline	Chr11:108329118	Conflicting classifications of pathogenicity	Condition: not provided not specified Breast and/or ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA286969	rs_370559102	18 SubmittersRCV000487700 RCV000855569 RCV001798324 RCV002291558 RCV000115243 RCV000198387
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile)	SNV Germline	Chr11:108330219	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Familial cancer of breast Condition: not provided not specified Malignant tumor of breast Hereditary breast ovarian cancer syndrome ATM-related disorder Familial cancer of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA286975	rs_147604227	15 SubmittersRCV000515201 RCV000589408 RCV001260260 RCV001354272 RCV002225326 RCV004549569 RCV004589575 RCV000115246 RCV000200256
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)	SNV Germline	Chr11:108330296	Conflicting classifications of pathogenicity	Condition: not provided Malignant tumor of breast Breast and/or ovarian cancer ATM-related disorder Familial cancer of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified	Criteria Provided Conflicting Classifications	CA249000	rs_55801750	23 SubmittersRCV000589438 RCV001356727 RCV001798325 RCV004549571 RCV004589576 RCV000115249 RCV000119204 RCV000202803
NM_000051.4(ATM):c.7450G>A (p.Val2484Ile)	SNV Germline	Chr11:108330356	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA286984	rs_587779864	3 SubmittersRCV000565502 RCV002515793 RCV000115250
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)	SNV Germline	Chr11:108330362	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Abnormal central motor function Familial cancer of breast Gastric cancer Inherited breast cancer and ovarian cancer Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA286987	rs_587779865	13 SubmittersRCV000462583 RCV001814060 RCV003467032 RCV003162535 RCV004782241 RCV000115251 RCV000212068
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)	SNV Germline	Chr11:108330381	Conflicting classifications of pathogenicity	Condition: not provided not specified Familial cancer of breast Astroblastoma, MN1-altered ATM-related disorder Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA286990	rs_56399857	25 SubmittersRCV000488003 RCV000780920 RCV000786770 RCV003325459 RCV004739397 RCV000115252 RCV000195623
NM_000051.4(ATM):c.7630-2A>C	SNV Germline	Chr11:108331877	Pathogenic	Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast Breast and/or ovarian cancer Familial cancer of breast Tip-toe gait Colorectal cancer ATM-related disorder Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Multiple Submitters No Conflicts	CA286993	rs_587779866	27 SubmittersRCV000212074 RCV000515371 RCV001270954 RCV001253391 RCV003319320 RCV002463639 RCV004739398 RCV000115253 RCV000206201
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser)	SNV Germline	Chr11:108331989	Conflicting classifications of pathogenicity	Condition: not provided not specified Ovarian cancer ATM-related disorder Familial cancer of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA286994	rs_199915459	15 SubmittersRCV000589821 RCV000855570 RCV003153367 RCV004549572 RCV004589577 RCV000115254 RCV000205594
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg)	SNV Germline	Chr11:108332027	Conflicting classifications of pathogenicity	Condition: not provided Familial cancer of breast not specified Hereditary cancer Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA286997	rs_587779867	13 SubmittersRCV000588147 RCV001257470 RCV002228249 RCV004700417 RCV000115255 RCV000197623
NM_000051.4(ATM):c.7788+8G>T	SNV Germline	Chr11:108332045	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast Breast and/or ovarian cancer Familial cancer of breast not specified Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA287000	rs_112775908	31 SubmittersRCV000579980 RCV000589845 RCV001357795 RCV001798326 RCV004589578 RCV000115256 RCV000119166
NM_000051.4(ATM):c.7928-10T>C	SNV Germline	Chr11:108333876	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Malignant tumor of breast Familial cancer of breast not specified	Criteria Provided Conflicting Classifications	CA287004	rs_188404773	13 SubmittersRCV000588523 RCV000776053 RCV001083708 RCV001357331 RCV004589579 RCV000115258
NM_000051.4(ATM):c.8113G>A (p.Val2705Ile)	SNV Germline	Chr11:108335071	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Condition: not provided not specified Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA287006	rs_587779870	11 SubmittersRCV000234753 RCV000235110 RCV000779774 RCV003467033 RCV000115260
NM_000051.4(ATM):c.8113G>T (p.Val2705Leu)	SNV Germline	Chr11:108335071	Conflicting classifications of pathogenicity	Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA287009	rs_587779870	6 SubmittersRCV000212078 RCV000464258 RCV004566997 RCV000115261
NM_000051.4(ATM):c.8156G>A (p.Arg2719His)	SNV Germline	Chr11:108335849	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast Familial cancer of breast Breast and/or ovarian cancer not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA287012	rs_55982963	26 SubmittersRCV000232453 RCV000586113 RCV000764949 RCV001257471 RCV001798327 RCV001818260 RCV000115262
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)	SNV Germline	Chr11:108345818	Likely pathogenic	Familial cancer of breast Abnormal central motor function Gastric cancer Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided	Reviewed By Expert Panel	CA287019	rs_587779872	26 SubmittersRCV001197256 RCV001814061 RCV003162536 RCV000115265 RCV000169354 RCV000212084
NM_000051.4(ATM):c.8786+1G>A	SNV Germline	Chr11:108353881	Pathogenic	Hereditary cancer-predisposing syndrome Malignant glioma Ataxia-telangiectasia syndrome Familial cancer of breast Familial cancer of breast Condition: not provided Ataxia-telangiectasia syndrome	Reviewed By Expert Panel	CA274150	rs_17174393	17 SubmittersRCV000220586 RCV000761159 RCV000763226 RCV003467035 RCV000115269 RCV000169303
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys)	SNV Germline	Chr11:108365199	Conflicting classifications of pathogenicity	Condition: not provided Malignant tumor of breast not specified Ataxia-telangiectasia syndrome Familial cancer of breast Familial cancer of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA287036	rs_1800558	12 SubmittersRCV000212095 RCV001358118 RCV002271407 RCV003330438 RCV003467036 RCV000115272 RCV000200530
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)	SNV Germline	Chr11:108365423	Conflicting classifications of pathogenicity	not specified Ataxia-telangiectasia syndrome Malignant tumor of breast Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast and/or ovarian cancer ATM-related disorder Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA287042	rs_201199629	25 SubmittersRCV000780893 RCV001535462 RCV001374551 RCV002288591 RCV003492468 RCV004549574 RCV000115274 RCV000198158 RCV000212098
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)	SNV Germline	Chr11:108247060	Conflicting classifications of pathogenicity	Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA157204	rs_28904919	29 SubmittersRCV000586032 RCV000988648 RCV001262803 RCV001798328 RCV002225327 RCV000115277 RCV000120169
NM_000051.4(ATM):c.162T>C (p.Tyr54=)	SNV Germline	Chr11:108227865	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial cancer of breast Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA289553	rs_3218690	31 SubmittersRCV000119217 RCV000123737 RCV000211941 RCV000415913 RCV001262812 RCV001798375 RCV002225353
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)	SNV Germline	Chr11:108251060	Conflicting classifications of pathogenicity	not specified Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Ataxia-telangiectasia syndrome Condition: not provided Malignant tumor of breast Breast and/or ovarian cancer Familial cancer of breast Hepatoblastoma ATM-related disorder	Criteria Provided Conflicting Classifications	CA157062	rs_35963548	19 SubmittersRCV000120116 RCV000122821 RCV000129230 RCV000515290 RCV000589072 RCV001355212 RCV001798377 RCV002243780 RCV001843478 RCV004739411
NM_000051.4(ATM):c.2449G>C (p.Asp817His)	SNV Germline	Chr11:108259058	Conflicting classifications of pathogenicity	not specified Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Endometrial carcinoma ATM-related disorder	Criteria Provided Conflicting Classifications	CA157079	rs_587778067	13 SubmittersRCV000120124 RCV000168026 RCV000159695 RCV000656758 RCV001250428 RCV001356154 RCV004551177
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly)	SNV Germline	Chr11:108271098	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA157089	rs_587778069	10 SubmittersRCV000120128 RCV000159703 RCV000528438 RCV000766496 RCV001355117
NM_000051.4(ATM):c.3630G>A (p.Met1210Ile)	SNV Germline	Chr11:108282763	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA157107	rs_587778073	13 SubmittersRCV000120134 RCV000131218 RCV000476722 RCV000657063 RCV004567038
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile)	SNV Germline	Chr11:108284443	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome Malignant tumor of breast Breast and/or ovarian cancer ATM-related disorder	Criteria Provided Conflicting Classifications	CA157113	rs_35184530	13 SubmittersRCV000120136 RCV000129195 RCV000657024 RCV001079506 RCV001355120 RCV003492517 RCV004551178
NM_000051.4(ATM):c.4658A>C (p.Glu1553Ala)	SNV Germline	Chr11:108293359	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA157122	rs_587778075	11 SubmittersRCV000120140 RCV000166074 RCV000200014 RCV000656761 RCV003467069
NM_000051.4(ATM):c.4779A>G (p.Glu1593=)	SNV Germline	Chr11:108294929	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA157125	rs_587778076	8 SubmittersRCV000120141 RCV000164622 RCV000841327 RCV001085126 RCV004589587
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)	SNV Germline	Chr11:108304736	Conflicting classifications of pathogenicity	not specified Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Malignant tumor of breast Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome Familial cancer of breast Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA157135	rs_1801673	35 SubmittersRCV000120145 RCV000122859 RCV000128902 RCV000513231 RCV001262813 RCV001358294 RCV001798378 RCV002225361 RCV003224156
NM_000051.4(ATM):c.275A>C (p.Lys92Thr)	SNV Germline	Chr11:108229267	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA157141	rs_200151849	11 SubmittersRCV000120147 RCV000165208 RCV000205193 RCV000656755 RCV000764932 RCV003460845
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr)	SNV Germline	Chr11:108320043	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA157159	rs_56815840	23 SubmittersRCV000120154 RCV000131611 RCV000710676 RCV001080465 RCV002225364 RCV003315729 RCV003149825
NM_000051.4(ATM):c.400G>A (p.Gly134Ser)	SNV Germline	Chr11:108235738	Conflicting classifications of pathogenicity	not specified Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA157168	rs_2234998	8 SubmittersRCV000120157 RCV000476735 RCV000571088 RCV000764934 RCV003467070
NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser)	SNV Germline	Chr11:108332006	Conflicting classifications of pathogenicity	not specified Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA157171	rs_587778079	11 SubmittersRCV000120158 RCV000465515 RCV000561937 RCV000587034
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile)	SNV Germline	Chr11:108332892	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Malignant tumor of breast Familial cancer of breast Tip-toe gait	Criteria Provided Conflicting Classifications	CA157174	rs_4988125	21 SubmittersRCV000120159 RCV000130402 RCV000168144 RCV000586791 RCV001355591 RCV003325183 RCV004724814
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala)	SNV Germline	Chr11:108333946	Conflicting classifications of pathogenicity	not specified Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast ATM-related disorder	Criteria Provided Conflicting Classifications	CA157177	rs_377648506	13 SubmittersRCV000120160 RCV000231221 RCV000214426 RCV000656763 RCV002225366 RCV003315730 RCV004551180
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter)	SNV Germline	Chr11:108345869	Pathogenic	not specified Ataxia-telangiectasia syndrome Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Breast cancer, susceptibility to Tip-toe gait Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA157183	rs_587778080	13 SubmittersRCV000120162 RCV000407552 RCV000478987 RCV000566641 RCV001258124 RCV001352893 RCV003460846
NM_000051.4(ATM):c.8495G>A (p.Arg2832His)	SNV Germline	Chr11:108345819	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome Breast and/or ovarian cancer Familial cancer of breast Ovarian cancer	Criteria Provided Conflicting Classifications	CA157186	rs_529296539	18 SubmittersRCV000120163 RCV000159755 RCV000462707 RCV000656764 RCV000764951 RCV001798380 RCV003153383 RCV003153384
NM_000051.4(ATM):c.649A>G (p.Ile217Val)	SNV Germline	Chr11:108244105	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast Hereditary cancer ATM-related disorder	Criteria Provided Conflicting Classifications	CA157189	rs_547045780	18 SubmittersRCV000120164 RCV000217843 RCV000472458 RCV000657028 RCV003467071 RCV004700427 RCV004551181
NM_000051.4(ATM):c.659C>T (p.Ala220Val)	SNV Germline	Chr11:108244115	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome Hereditary breast ovarian cancer syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA157192	rs_145355104	16 SubmittersRCV000120165 RCV000159677 RCV000527646 RCV000513410 RCV000764936 RCV001030516 RCV001253154
NM_000051.4(ATM):c.1021G>A (p.Val341Ile)	SNV Germline	Chr11:108247083	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast Breast and/or ovarian cancer ATM-related disorder	Criteria Provided Conflicting Classifications	CA157207	rs_200601781	13 SubmittersRCV000120170 RCV000167222 RCV000234064 RCV000657017 RCV002288608 RCV003492519 RCV004739412
NM_000051.4(ATM):c.1272T>C (p.Pro424=)	SNV Germline	Chr11:108250737	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Malignant tumor of breast Breast and/or ovarian cancer Familial cancer of breast	Criteria Provided Conflicting Classifications	CA297982	rs_35578748	22 SubmittersRCV000122817 RCV000159603 RCV000211959 RCV000588662 RCV001355372 RCV001798388 RCV004589593
NM_000051.4(ATM):c.1960C>A (p.Gln654Lys)	SNV Germline	Chr11:108253875	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial pancreatic carcinoma Breast and/or ovarian cancer not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA192475	rs_528165789	13 SubmittersRCV000122828 RCV000165083 RCV000254742 RCV001354480 RCV003492531 RCV003320097 RCV003467083
NM_000051.4(ATM):c.1986T>C (p.Phe662=)	SNV Germline	Chr11:108253901	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Malignant tumor of breast Breast and/or ovarian cancer Familial cancer of breast Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA289538	rs_1800055	26 SubmittersRCV000122829 RCV000123724 RCV000211971 RCV000586136 RCV001356414 RCV001798389 RCV003315804 RCV004764767
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser)	SNV Germline	Chr11:108257511	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified ATM-related disorder Familial cancer of breast	Criteria Provided Conflicting Classifications	CA294031	rs_2235011	11 SubmittersRCV000122833 RCV000129351 RCV000586568 RCV002223130 RCV004551196 RCV004589597
NM_000051.4(ATM):c.2805G>C (p.Thr935=)	SNV Germline	Chr11:108268576	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Malignant tumor of breast Breast and/or ovarian cancer Familial cancer of breast	Criteria Provided Conflicting Classifications	CA289548	rs_55934812	21 SubmittersRCV000122836 RCV000123732 RCV000211989 RCV000586912 RCV001357062 RCV003149832 RCV003315805
NM_000051.4(ATM):c.3150T>C (p.Leu1050=)	SNV Germline	Chr11:108272604	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome not specified Malignant tumor of breast Breast and/or ovarian cancer Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA186610	rs_3092859	16 SubmittersRCV000122839 RCV000162639 RCV000679110 RCV001358528 RCV001798391 RCV001640111 RCV003315806
NM_000051.4(ATM):c.3300G>A (p.Thr1100=)	SNV Germline	Chr11:108279506	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome not specified Malignant tumor of breast Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA186446	rs_587780621	10 SubmittersRCV000122841 RCV000162548 RCV000779771 RCV001356792 RCV001657770 RCV004589599
NM_000051.4(ATM):c.3342G>A (p.Lys1114=)	SNV Germline	Chr11:108279548	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Ataxia-telangiectasia syndrome Malignant tumor of breast Breast and/or ovarian cancer Familial cancer of breast	Criteria Provided Conflicting Classifications	CA289556	rs_138393322	17 SubmittersRCV000123738 RCV000211997 RCV000586815 RCV000988672 RCV001356781 RCV001798392 RCV003315807
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)	SNV Germline	Chr11:108292655	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Malignant tumor of breast Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Familial cancer of breast	Criteria Provided Conflicting Classifications	CA289569	rs_4988008	29 SubmittersRCV000122850 RCV000123748 RCV000212018 RCV000587530 RCV001354679 RCV002225390 RCV001798393 RCV004589602
NM_000051.4(ATM):c.482A>C (p.Gln161Pro)	SNV Germline	Chr11:108235820	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA332336	rs_587780625	5 SubmittersRCV000122853 RCV000219862 RCV000436828 RCV004998245
NM_000051.4(ATM):c.4871A>G (p.His1624Arg)	SNV Germline	Chr11:108295021	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified ATM-related disorder Familial cancer of breast	Criteria Provided Conflicting Classifications	CA294028	rs_56354559	10 SubmittersRCV000122854 RCV000129349 RCV000587947 RCV002223131 RCV004551198 RCV004589603
NM_000051.4(ATM):c.574C>G (p.His192Asp)	SNV Germline	Chr11:108244030	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA332342	rs_587780629	3 SubmittersRCV000122861 RCV000563677
NM_000051.4(ATM):c.591A>T (p.Gly197=)	SNV Germline	Chr11:108244047	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome not specified Malignant tumor of breast Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA192923	rs_587780630	9 SubmittersRCV000122862 RCV000165264 RCV000254428 RCV001356581 RCV001682838 RCV003315808
NM_000051.4(ATM):c.609C>T (p.Asp203=)	SNV Germline	Chr11:108244065	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified Condition: not provided Breast and/or ovarian cancer Familial cancer of breast	Criteria Provided Conflicting Classifications	CA289529	rs_144709948	21 SubmittersRCV000123719 RCV000122866 RCV000211950 RCV000679133 RCV001798396 RCV003315809
NM_000051.4(ATM):c.6179G>A (p.Arg2060His)	SNV Germline	Chr11:108316094	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA294446	rs_376521407	5 SubmittersRCV000122869 RCV000131768 RCV000212041 RCV000779793
NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser)	SNV Germline	Chr11:108317489	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast not specified Familial cancer of breast ATM-related disorder	Criteria Provided Conflicting Classifications	CA167882	rs_587780632	14 SubmittersRCV000122871 RCV000131258 RCV000589612 RCV001356310 RCV001293417 RCV003467085 RCV004551200
NM_000051.4(ATM):c.6343G>A (p.Val2115Ile)	SNV Germline	Chr11:108317517	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Breast and/or ovarian cancer Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA168504	rs_587780634	17 SubmittersRCV000122874 RCV000131631 RCV000237090 RCV001269134 RCV001798397 RCV002483232 RCV002288612 RCV003483488
NM_000051.4(ATM):c.6572+4T>C	SNV Germline	Chr11:108321424	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA289576	rs_587780636	10 SubmittersRCV000122876 RCV000123756 RCV000417368 RCV000679137 RCV004589606
NM_000051.4(ATM):c.6795C>T (p.Phe2265=)	SNV Germline	Chr11:108325532	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Malignant tumor of breast Breast and/or ovarian cancer Familial cancer of breast	Criteria Provided Conflicting Classifications	CA289516	rs_3218699	17 SubmittersRCV000122878 RCV000123710 RCV000212049 RCV000679140 RCV001356930 RCV003149833 RCV004589608
NM_000051.4(ATM):c.6807G>A (p.Gln2269=)	SNV Germline	Chr11:108325544	Pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer Familial cancer of breast	Reviewed By Expert Panel	CA332354	rs_587780638	8 SubmittersRCV000122879 RCV000213885 RCV001288455 RCV001798398 RCV003985275
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr)	SNV Germline	Chr11:108326070	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Tip-toe gait Hereditary breast ovarian cancer syndrome not specified	Criteria Provided Conflicting Classifications	CA298037	rs_567060474	15 SubmittersRCV000122880 RCV000159644 RCV000588200 RCV001250436 RCV001824286 RCV004760385 RCV004562279
NM_000051.4(ATM):c.7788G>A (p.Glu2596=)	SNV Germline	Chr11:108332037	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Condition: not provided Hereditary cancer-predisposing syndrome Malignant tumor of breast Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA298062	rs_587780639	13 SubmittersRCV000122884 RCV000159654 RCV000217179 RCV001255554 RCV002505072 RCV003155919
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)	SNV Germline	Chr11:108335959	Pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial ovarian cancer Familial cancer of breast Familial cancer of breast Ataxia-telangiectasia syndrome Breast and/or ovarian cancer ATM-related cancer predisposition ATM-related disorder	Reviewed By Expert Panel	CA293899	rs_371638537	20 SubmittersRCV000122886 RCV000128904 RCV000212082 RCV001356913 RCV002272133 RCV002483233 RCV003492532 RCV005001002 RCV004739421
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu)	SNV Germline	Chr11:108365152	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary breast ovarian cancer syndrome Malignant tumor of breast Breast and/or ovarian cancer ATM-related disorder	Criteria Provided Conflicting Classifications	CA185963	rs_139379666	17 SubmittersRCV000122894 RCV000159668 RCV000200970 RCV000780903 RCV001030606 RCV001356215 RCV001798400 RCV004739423
NM_000051.4(ATM):c.7044G>A (p.Thr2348=)	SNV Germline	Chr11:108327713	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified Familial cancer of breast Condition: not provided Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA289519	rs_140104789	13 SubmittersRCV000123712 RCV000196795 RCV000212057 RCV003315830 RCV004546434 RCV003492555
NM_000051.4(ATM):c.8671+9T>G	SNV Germline	Chr11:108347374	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA289528	rs_200190537	12 SubmittersRCV000123717 RCV000448274 RCV000589757 RCV000988738 RCV002288615
NM_000051.4(ATM):c.1773T>C (p.Asn591=)	SNV Germline	Chr11:108252002	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided not specified Ataxia-telangiectasia syndrome Breast and/or ovarian cancer Familial cancer of breast	Criteria Provided Conflicting Classifications	CA289535	rs_61734356	19 SubmittersRCV000123723 RCV000196069 RCV000211968 RCV001085839 RCV001798412 RCV004589614
NM_000051.4(ATM):c.3577-13T>C	SNV Germline	Chr11:108282697	Conflicting classifications of pathogenicity	not specified Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA289564	rs_587780856	7 SubmittersRCV000123743 RCV000343406 RCV000580674 RCV001795221 RCV004589617
NM_000051.4(ATM):c.5497-15G>C	SNV Germline	Chr11:108304660	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Malignant tumor of breast Condition: not provided Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Familial cancer of breast	Criteria Provided Conflicting Classifications	CA289575	rs_3092828	21 SubmittersRCV000123750 RCV000447093 RCV001103816 RCV001358583 RCV001689673 RCV002225399 RCV003149850 RCV003315838
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly)	SNV Germline	Chr11:108315863	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Breast carcinoma Abnormal central motor function Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA163663	rs_587781302	8 SubmittersRCV000129013 RCV000449587 RCV001090516 RCV001657792 RCV001814064 RCV003155920
NM_000051.4(ATM):c.133C>T (p.Arg45Trp)	SNV Germline	Chr11:108227836	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided not specified Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA163682	rs_3218684	10 SubmittersRCV000129025 RCV000199094 RCV000219679 RCV001199867 RCV002498640 RCV003315869
NM_000051.4(ATM):c.4666T>C (p.Tyr1556His)	SNV Germline	Chr11:108293367	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA163737	rs_587781320	10 SubmittersRCV000129059 RCV000530097 RCV000587733 RCV004567076
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)	SNV Germline	Chr11:108267198	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Ataxia-telangiectasia syndrome Condition: not provided Breast and/or ovarian cancer Familial cancer of breast ATM-related disorder Hereditary cancer	Criteria Provided Conflicting Classifications	CA293954	rs_2229022	19 SubmittersRCV000129082 RCV000211982 RCV000199664 RCV000587618 RCV003492583 RCV004589620 RCV004551237 RCV004700436
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp)	SNV Germline	Chr11:108256239	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA163812	rs_147515380	18 SubmittersRCV000129107 RCV000457240 RCV000586332 RCV001030521 RCV002228638 RCV003237338
NM_000051.4(ATM):c.7358G>A (p.Arg2453His)	SNV Germline	Chr11:108330264	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA293982	rs_587781361	7 SubmittersRCV000129153 RCV000212065 RCV000233904
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter)	SNV Germline	Chr11:108345797	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA163889	rs_587781363	9 SubmittersRCV000129156 RCV000523615 RCV000549950 RCV003467103
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr)	SNV Germline	Chr11:108331520	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided not specified Familial cancer of breast ATM-related disorder	Criteria Provided Conflicting Classifications	CA293988	rs_587781365	14 SubmittersRCV000129166 RCV000195721 RCV000656762 RCV001192416 RCV003460890 RCV004551240
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)	SNV Germline	Chr11:108244874	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Ataxia-telangiectasia syndrome Familial cancer of breast Breast and/or ovarian cancer Condition: not provided Hereditary breast ovarian cancer syndrome Hereditary cancer	Criteria Provided Conflicting Classifications	CA293997	rs_56123940	17 SubmittersRCV000129173 RCV000211952 RCV000204231 RCV001257469 RCV001798434 RCV001704053 RCV002225424 RCV003492586
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)	SNV Germline	Chr11:108251932	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome not specified Malignant tumor of breast Familial cancer of breast	Criteria Provided Conflicting Classifications	CA294000	rs_200381392	19 SubmittersRCV000129176 RCV000195658 RCV000416037 RCV000515396 RCV000855571 RCV001357003 RCV004589621
NM_000051.4(ATM):c.496+4T>C	SNV Germline	Chr11:108235838	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Ataxia-telangiectasia syndrome Condition: not provided Malignant tumor of breast ATM-related disorder Familial cancer of breast	Criteria Provided Conflicting Classifications	CA294004	rs_587781375	18 SubmittersRCV000129193 RCV000211949 RCV000474202 RCV000585055 RCV001357828 RCV004551241 RCV004589622
NM_000051.4(ATM):c.3628A>G (p.Met1210Val)	SNV Germline	Chr11:108282761	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome ATM-related disorder not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA164516	rs_138212452	11 SubmittersRCV000129482 RCV000482081 RCV000529913 RCV004739430 RCV001193060 RCV003467109
NM_000051.4(ATM):c.967A>G (p.Ile323Val)	SNV Germline	Chr11:108247029	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA164527	rs_587781511	8 SubmittersRCV000129488 RCV000675169 RCV002483260 RCV000486107 RCV004019731
NM_000051.4(ATM):c.6739A>G (p.Ile2247Val)	SNV Germline	Chr11:108325476	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA164564	rs_587781521	8 SubmittersRCV000129510 RCV000196259 RCV002262749 RCV003460894
NM_000051.4(ATM):c.283C>T (p.Gln95Ter)	SNV Germline	Chr11:108229275	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast Ataxia-telangiectasia syndrome	Criteria Provided Multiple Submitters No Conflicts	CA164660	rs_587781545	7 SubmittersRCV000129559 RCV001194302 RCV001857440 RCV002492495
NM_000051.4(ATM):c.2921+1G>A	SNV Germline/somatic	Chr11:108271147	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome not specified Neoplasm ATM-related disorder Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome Endometrial carcinoma Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA164701	rs_587781558	25 SubmittersRCV000129576 RCV000507017 RCV004668790 RCV004739431 RCV000169059 RCV000215085 RCV000762820 RCV003128149 RCV003467112
NM_000051.4(ATM):c.2021A>G (p.His674Arg)	SNV Germline	Chr11:108253936	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Ataxia-telangiectasia syndrome Condition: not provided Malignant tumor of breast Breast and/or ovarian cancer Familial cancer of breast ATM-related disorder Ataxia-telangiectasia syndrome Bilateral breast carcinoma not specified	Criteria Provided Conflicting Classifications	CA164702	rs_201762714	21 SubmittersRCV000129577 RCV000515195 RCV000236547 RCV001356825 RCV003492590 RCV004589624 RCV004551243 RCV000168255 RCV000181010 RCV000780908
NM_000051.4(ATM):c.2377A>G (p.Lys793Glu)	SNV Germline	Chr11:108258986	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Ataxia-telangiectasia syndrome not specified	Criteria Provided Conflicting Classifications	CA164793	rs_587781583	6 SubmittersRCV000129623 RCV003467114 RCV000227337 RCV003323408
NM_000051.4(ATM):c.6095+1G>A	SNV Germline	Chr11:108315912	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA164796	rs_587781584	7 SubmittersRCV000129624 RCV000780909 RCV003114280 RCV003467115
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter)	SNV Germline	Chr11:108332886	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided See cases ATM-related disorder Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA294097	rs_377349459	17 SubmittersRCV000129649 RCV000169621 RCV000212077 RCV002251994 RCV004739433 RCV000768151 RCV003460899
NM_000051.4(ATM):c.8505C>A (p.Cys2835Ter)	SNV Germline	Chr11:108345829	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA164890	rs_587781597	8 SubmittersRCV000129661 RCV000557950 RCV003467116 RCV004998263
NM_000051.4(ATM):c.1888G>A (p.Val630Met)	SNV Germline	Chr11:108252902	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast not specified Familial cancer of breast Ataxia-telangiectasia syndrome ATM-related disorder Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA164912	rs_148191382	15 SubmittersRCV000129681 RCV000590311 RCV001356176 RCV001731482 RCV004589625 RCV001079129 RCV004551246 RCV003149894
NM_000051.4(ATM):c.5488A>G (p.Met1830Val)	SNV Germline	Chr11:108303021	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided Familial pancreatic carcinoma ATM-related disorder	Criteria Provided Conflicting Classifications	CA164960	rs_587781622	11 SubmittersRCV000199250 RCV000129712 RCV001030597 RCV002307401 RCV000590655 RCV001357265 RCV004551247
NM_000051.4(ATM):c.3154-5C>T	SNV Germline	Chr11:108272717	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast not specified	Criteria Provided Conflicting Classifications	CA165018	rs_55719759	9 SubmittersRCV000129749 RCV000462650 RCV001311785 RCV004589627 RCV000779795
NM_000051.4(ATM):c.2131A>G (p.Asn711Asp)	SNV Germline	Chr11:108256221	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA165093	rs_587781654	4 SubmittersRCV000129789 RCV000688954 RCV004700439
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)	SNV Germline	Chr11:108329027	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA165161	rs_587781672	8 SubmittersRCV000169152 RCV000129830 RCV003128614 RCV002467440
NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter)	SNV Germline	Chr11:108365335	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Ataxia-telangiectasia syndrome	Criteria Provided Multiple Submitters No Conflicts	CA165254	rs_587781698	5 SubmittersRCV000129865 RCV004019733 RCV000576680
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter)	SNV Germline	Chr11:108310305	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Breast cancer, susceptibility to Ataxia-telangiectasia syndrome Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast Ataxia-telangiectasia syndrome	Criteria Provided Multiple Submitters No Conflicts	CA165332	rs_587781722	15 SubmittersRCV000129909 RCV000235704 RCV001258121 RCV003460905 RCV000200350 RCV000762823
NM_000051.4(ATM):c.3993+1G>A	SNV Germline	Chr11:108284474	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Ataxia-telangiectasia syndrome	Criteria Provided Multiple Submitters No Conflicts	CA165426	rs_200196781	10 SubmittersRCV000438634 RCV000129961 RCV003155921 RCV000228950
NM_000051.4(ATM):c.3831G>C (p.Glu1277Asp)	SNV Germline	Chr11:108284311	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA165593	rs_587781787	4 SubmittersRCV000130042 RCV000442870 RCV000700863
NM_000051.4(ATM):c.2531G>A (p.Gly844Glu)	SNV Germline	Chr11:108267235	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast ATM-related disorder Ataxia-telangiectasia syndrome not specified	Criteria Provided Conflicting Classifications	CA294150	rs_587781808	10 SubmittersRCV000130079 RCV000211983 RCV002288634 RCV004551252 RCV000168121 RCV003226209
NM_000051.4(ATM):c.2522A>G (p.Asp841Gly)	SNV Germline	Chr11:108267226	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA165667	rs_587781812	3 SubmittersRCV000130083 RCV000458854
NM_000051.4(ATM):c.7294A>T (p.Ile2432Phe)	SNV Germline	Chr11:108329225	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA165771	rs_587781838	3 SubmittersRCV000130133 RCV000687430 RCV003441751
NM_000051.4(ATM):c.7999A>G (p.Met2667Val)	SNV Germline	Chr11:108333957	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer ATM-related disorder Familial cancer of breast	Criteria Provided Conflicting Classifications	CA165779	rs_34099398	11 SubmittersRCV000474473 RCV000130136 RCV000416016 RCV001798440 RCV004739439 RCV002288635
NM_000051.4(ATM):c.1379C>T (p.Thr460Met)	SNV Germline	Chr11:108250844	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast not specified	Criteria Provided Conflicting Classifications	CA165785	rs_587781841	8 SubmittersRCV000130139 RCV000478287 RCV000466948 RCV001196781 RCV004595932
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile)	SNV Germline	Chr11:108331546	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Breast and/or ovarian cancer Familial cancer of breast ATM-related disorder not specified	Criteria Provided Conflicting Classifications	CA165843	rs_35203200	19 SubmittersRCV000236319 RCV000130162 RCV000167957 RCV001798442 RCV003474759 RCV004739440 RCV000779778
NM_000051.4(ATM):c.9023G>A (p.Arg3008His)	SNV Germline	Chr11:108365360	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Malignant tumor of breast Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA165987	rs_587781894	13 SubmittersRCV000196159 RCV000130230 RCV000254719 RCV003467134 RCV002281955 RCV003162582
NM_000051.4(ATM):c.2495G>A (p.Arg832His)	SNV Germline	Chr11:108267199	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Ataxia-telangiectasia syndrome not specified	Criteria Provided Conflicting Classifications	CA166023	rs_199875915	8 SubmittersRCV000483469 RCV000130241 RCV004760391 RCV000168264 RCV001174859
NM_000051.4(ATM):c.3388G>T (p.Gly1130Ter)	SNV Germline	Chr11:108279594	Pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Ataxia-telangiectasia syndrome	Criteria Provided Multiple Submitters No Conflicts	CA166048	rs_587781911	5 SubmittersRCV000130253 RCV004019737 RCV001223207
NM_000051.4(ATM):c.4776+2T>C	SNV Germline	Chr11:108293479	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA249436	rs_587781927	13 SubmittersRCV000003170 RCV000235350 RCV000130284 RCV003467137
NM_000051.4(ATM):c.6975G>A (p.Ala2325=)	SNV Germline	Chr11:108326225	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome ATM-related disorder Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome not specified	Criteria Provided Conflicting Classifications	CA166105	rs_556778314	11 SubmittersRCV000130288 RCV004739442 RCV000679141 RCV002243794 RCV000196388 RCV002469019
NM_000051.4(ATM):c.251C>T (p.Ala84Val)	SNV Germline	Chr11:108229243	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided not specified Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA166128	rs_587781937	6 SubmittersRCV000130300 RCV002251433 RCV003230414 RCV000466004
NM_000051.4(ATM):c.4198A>T (p.Lys1400Ter)	SNV Germline	Chr11:108289065	Pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA166177	rs_587781950	7 SubmittersRCV000130320 RCV000204266 RCV000483525 RCV003460920
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter)	SNV Germline	Chr11:108335878	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA166241	rs_587781967	8 SubmittersRCV000410300 RCV000130347 RCV003467141 RCV000657613
NM_000051.4(ATM):c.8124T>A (p.Asp2708Glu)	SNV Germline	Chr11:108335082	Pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Multiple Submitters No Conflicts	CA166315	rs_587781990	2 SubmittersRCV000130392 RCV001044776
NM_000051.4(ATM):c.2836A>G (p.Met946Val)	SNV Germline	Chr11:108268607	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided ATM-related disorder Familial cancer of breast Ataxia-telangiectasia syndrome Breast and/or ovarian cancer Carcinoma of colon Familial cancer of breast not specified	Criteria Provided Conflicting Classifications	CA166340	rs_587781992	13 SubmittersRCV000130397 RCV000168097 RCV000485729 RCV004739444 RCV000515251 RCV003492600 RCV001356743 RCV003467147 RCV000779792
NM_000051.4(ATM):c.7951C>T (p.Gln2651Ter)	SNV Germline	Chr11:108333909	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Ataxia-telangiectasia syndrome	Criteria Provided Multiple Submitters No Conflicts	CA166363	rs_587781994	4 SubmittersRCV000130403 RCV004019739 RCV000411562
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr)	SNV Germline	Chr11:108289644	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA166697	rs_2229021	14 SubmittersRCV000467455 RCV000130581 RCV000222514 RCV002225432 RCV002307403 RCV001257474
NM_000051.4(ATM):c.3077G>A (p.Trp1026Ter)	SNV Germline	Chr11:108271406	Pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA166759	rs_587782103	3 SubmittersRCV000130616 RCV000798032 RCV003467149
NM_000051.4(ATM):c.6326G>A (p.Trp2109Ter)	SNV Germline	Chr11:108317500	Pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA166794	rs_587782114	6 SubmittersRCV000130633 RCV001857452 RCV002492505 RCV000521744 RCV003467150
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr)	SNV Germline	Chr11:108299771	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Breast and/or ovarian cancer not specified Malignant tumor of breast Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA166824	rs_199836342	10 SubmittersRCV000130648 RCV000538544 RCV000484463 RCV003149900 RCV001194272 RCV001535791
NM_000051.4(ATM):c.1898+2T>G	SNV Germline	Chr11:108252914	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA166848	rs_587782124	14 SubmittersRCV000130662 RCV000235311 RCV000461282 RCV003322598
NM_000051.4(ATM):c.4909+4C>T	SNV Germline	Chr11:108295063	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA166849	rs_587782125	6 SubmittersRCV000460771 RCV000130663 RCV003467151
NM_000051.4(ATM):c.2354G>A (p.Arg785His)	SNV Germline	Chr11:108257584	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA166861	rs_587782128	10 SubmittersRCV000130667 RCV000167917 RCV000482225 RCV002298480 RCV003153421
NM_000051.4(ATM):c.2005T>C (p.Cys669Arg)	SNV Germline	Chr11:108253920	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA166922	rs_587782141	6 SubmittersRCV000549496 RCV000130699 RCV000485416 RCV004764769
NM_000051.4(ATM):c.5039C>T (p.Pro1680Leu)	SNV Germline	Chr11:108299747	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA166999	rs_587782153	9 SubmittersRCV000130731 RCV000205355 RCV000481018 RCV003461998
NM_000051.4(ATM):c.3980T>G (p.Leu1327Ter)	SNV Germline	Chr11:108284460	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA167215	rs_587782192	5 SubmittersRCV000130840 RCV000463924 RCV003462002
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser)	SNV Germline	Chr11:108282822	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Malignant tumor of breast Familial cancer of breast Condition: not provided Ataxia-telangiectasia syndrome not specified	Criteria Provided Conflicting Classifications	CA294243	rs_587782195	15 SubmittersRCV000130847 RCV001357259 RCV003474771 RCV000587182 RCV000200096 RCV003321515
NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser)	SNV Germline	Chr11:108272810	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Condition: not provided Hereditary cancer-predisposing syndrome not specified Breast and/or ovarian cancer Familial cancer of breast Ataxia-telangiectasia syndrome Malignant tumor of breast Familial cancer of breast	Criteria Provided Conflicting Classifications	CA294246	rs_368111672	10 SubmittersRCV000475427 RCV000588298 RCV000130850 RCV001731389 RCV003149903 RCV000515162 RCV001354773 RCV004589629
NM_000051.4(ATM):c.8546G>A (p.Arg2849Gln)	SNV Germline	Chr11:108345870	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA167269	rs_587782202	5 SubmittersRCV000482134 RCV000130863 RCV000627888 RCV004527323
NM_000051.4(ATM):c.2921+1G>T	SNV Germline	Chr11:108271147	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast Malignant tumor of breast	Criteria Provided Multiple Submitters No Conflicts	CA167275	rs_587781558	11 SubmittersRCV000130866 RCV000233536 RCV001571421 RCV003462003 RCV003330505
NM_000051.4(ATM):c.5645G>A (p.Arg1882Gln)	SNV Germline	Chr11:108304823	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA167411	rs_587782236	8 SubmittersRCV000130937 RCV000530461 RCV001260302 RCV003314563 RCV003467161
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)	SNV Germline	Chr11:108310287	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Ataxia-telangiectasia syndrome Ataxia-telangiectasia syndrome not specified Malignant tumor of breast Condition: not provided Hereditary breast ovarian cancer syndrome Familial cancer of breast Breast and/or ovarian cancer Endometrial carcinoma Hereditary cancer ATM-related disorder	Criteria Provided Conflicting Classifications	CA294264	rs_201963507	19 SubmittersRCV000130965 RCV000515322 RCV000197688 RCV000212034 RCV001269498 RCV003390822 RCV003483502 RCV002288644 RCV003492610 RCV001357333 RCV003492611 RCV004551259
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)	SNV Germline/somatic	Chr11:108345884	Conflicting classifications of pathogenicity	Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified Astrocytoma IDH-mutant Carcinoma of colon Papillary thyroid carcinoma Breast and/or ovarian cancer Familial cancer of breast Ataxia-telangiectasia syndrome ATM-related disorder Neoplasm	Criteria Provided Conflicting Classifications	CA246481	rs_201958469	26 SubmittersRCV000585658 RCV000656765 RCV000131002 RCV000199741 RCV000779783 RCV004776277 RCV001354297 RCV001357714 RCV001798447 RCV003483503 RCV004551260 RCV004668795
NM_000051.4(ATM):c.3016A>G (p.Met1006Val)	SNV Germline	Chr11:108271345	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA167648	rs_139893395	9 SubmittersRCV000131127 RCV000205686 RCV000585220 RCV001328457
NM_000051.4(ATM):c.5973A>C (p.Glu1991Asp)	SNV Germline	Chr11:108312465	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA167651	rs_587782274	5 SubmittersRCV000484990 RCV000131129 RCV001035231
NM_000051.4(ATM):c.3994-2A>G	SNV Germline	Chr11:108287598	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA167657	rs_587782276	9 SubmittersRCV000131133 RCV000198837 RCV001580458 RCV003155922
NM_000051.4(ATM):c.2548G>T (p.Glu850Ter)	SNV Germline	Chr11:108267252	Pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Multiple Submitters No Conflicts	CA167666	rs_587782280	2 SubmittersRCV000131140 RCV001849939
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)	SNV Germline	Chr11:108365359	Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome ATM-related cancer predisposition Familial cancer of breast Gastric cancer	Reviewed By Expert Panel	CA294307	rs_587782292	18 SubmittersRCV000131173 RCV000212096 RCV000169274 RCV005001006 RCV003474775 RCV003162585
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter)	SNV Germline	Chr11:108289735	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA167716	rs_373226793	7 SubmittersRCV000131174 RCV000411522 RCV003467163 RCV001560591
NM_000051.4(ATM):c.7328G>A (p.Arg2443Gln)	SNV Germline	Chr11:108330234	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast ATM-related disorder	Criteria Provided Conflicting Classifications	CA167770	rs_587782310	9 SubmittersRCV000131203 RCV000230833 RCV000236663 RCV003462010 RCV004551261
NM_000051.4(ATM):c.1855A>C (p.Asn619His)	SNV Germline	Chr11:108252869	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided not specified Familial cancer of breast ATM-related disorder	Criteria Provided Conflicting Classifications	CA167802	rs_140882609	12 SubmittersRCV000131223 RCV000203692 RCV000587634 RCV001530924 RCV003467169 RCV004551262
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg)	SNV Germline	Chr11:108284399	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Malignant tumor of breast Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome not specified Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA167867	rs_568451087	10 SubmittersRCV000131248 RCV001356054 RCV001704057 RCV004589630 RCV000234723 RCV000608362 RCV002225443 RCV001798449
NM_000051.4(ATM):c.8558C>T (p.Thr2853Met)	SNV Germline/somatic	Chr11:108345882	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast Ataxia-telangiectasia syndrome not specified Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast ATM-related disorder Neoplasm	Criteria Provided Conflicting Classifications	CA294334	rs_141534716	16 SubmittersRCV000131262 RCV000589725 RCV001356460 RCV000203831 RCV002265616 RCV002483265 RCV003474776 RCV004739452 RCV004668797
NM_000051.4(ATM):c.8850+4A>C	SNV Germline	Chr11:108354878	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA294337	rs_587782335	6 SubmittersRCV000131263 RCV000227772 RCV000212091 RCV003493456
NM_000051.4(ATM):c.3154-4G>A	SNV Germline	Chr11:108272718	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Malignant tumor of breast Ataxia-telangiectasia syndrome Breast and/or ovarian cancer Familial cancer of breast Condition: not provided	Criteria Provided Conflicting Classifications	CA294338	rs_199543313	17 SubmittersRCV000131267 RCV000211993 RCV001358310 RCV001079697 RCV003149907 RCV003315904 RCV002292436
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu)	SNV Germline	Chr11:108267180	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast not specified	Criteria Provided Conflicting Classifications	CA168126	rs_587782397	13 SubmittersRCV000131419 RCV000484154 RCV000168043 RCV001762310 RCV000779790
NM_000051.4(ATM):c.1110C>G (p.Tyr370Ter)	SNV Germline	Chr11:108248977	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA168151	rs_376170600	10 SubmittersRCV000236856 RCV000131436 RCV000228285 RCV003467175
NM_000051.4(ATM):c.6976-2A>C	SNV Germline	Chr11:108327643	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast ATM-related cancer predisposition	Reviewed By Expert Panel	CA294376	rs_587782403	9 SubmittersRCV000131437 RCV000212053 RCV000228133 RCV001171406 RCV005001007
NM_000051.4(ATM):c.1685A>G (p.Asn562Ser)	SNV Germline	Chr11:108251914	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA168162	rs_368209025	6 SubmittersRCV000131441 RCV000233331 RCV000235239
NM_000051.4(ATM):c.8353G>A (p.Asp2785Asn)	SNV Germline	Chr11:108343306	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA168194	rs_587782417	7 SubmittersRCV000131464 RCV000198515 RCV004567136 RCV000479519 RCV002469022
NM_000051.4(ATM):c.7630-3C>G	SNV Germline	Chr11:108331876	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA168292	rs_587782448	4 SubmittersRCV000131518 RCV000538287 RCV001566258
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys)	SNV Germline	Chr11:108250929	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Familial cancer of breast ATM-related disorder Familial cancer of breast Ataxia-telangiectasia syndrome Ataxia-telangiectasia syndrome Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA294394	rs_377597949	14 SubmittersRCV000235099 RCV000131552 RCV001199851 RCV003462015 RCV004551263 RCV000515383 RCV000168391 RCV001357286
NM_000051.4(ATM):c.6718G>C (p.Asp2240His)	SNV Germline	Chr11:108325455	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA168417	rs_587782478	6 SubmittersRCV000131592 RCV000692438 RCV001193604 RCV004567141
NM_000051.4(ATM):c.4703A>G (p.His1568Arg)	SNV Germline	Chr11:108293404	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Malignant tumor of breast Breast and/or ovarian cancer Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA168443	rs_368830730	9 SubmittersRCV000480209 RCV000131606 RCV001355688 RCV001798455 RCV000167871
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn)	SNV Germline	Chr11:108294952	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome ATM-related disorder not specified	Criteria Provided Conflicting Classifications	CA168532	rs_587782506	12 SubmittersRCV000236820 RCV000131649 RCV000205840 RCV004551264 RCV000779764
NM_000051.4(ATM):c.2804C>T (p.Thr935Met)	SNV Germline	Chr11:108268575	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial pancreatic carcinoma ATM-related disorder not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA294422	rs_3218708	15 SubmittersRCV000204695 RCV000211988 RCV000131651 RCV001358229 RCV004739457 RCV000780917 RCV002291569
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)	SNV Germline	Chr11:108244795	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome ATM-related disorder Condition: not provided Ataxia-telangiectasia syndrome not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA294425	rs_145053092	22 SubmittersRCV000131698 RCV004551265 RCV000587384 RCV000205199 RCV000211951 RCV001257492
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)	SNV Germline	Chr11:108307975	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome ATM-related disorder	Criteria Provided Conflicting Classifications	CA168653	rs_148064985	18 SubmittersRCV000131724 RCV001705933 RCV000587454 RCV003467183 RCV000199373 RCV004551266
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)	SNV Germline	Chr11:108330287	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome not specified ATM-related disorder Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast Malignant tumor of breast Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA294439	rs_201314561	19 SubmittersRCV000131731 RCV000212067 RCV000206694 RCV001375519 RCV004551267 RCV000764944 RCV003462021 RCV001535788
NM_000051.4(ATM):c.5081C>G (p.Ala1694Gly)	SNV Germline	Chr11:108299789	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA168721	rs_587782551	2 SubmittersRCV000131765 RCV001048603
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)	SNV Germline	Chr11:108335105	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Tip-toe gait ATM-related disorder Familial cancer of breast Breast carcinoma Familial cancer of breast Ataxia-telangiectasia syndrome Uterine corpus cancer Breast and/or ovarian cancer	Criteria Provided Multiple Submitters No Conflicts	CA294465	rs_587782652	41 SubmittersRCV000132066 RCV000169105 RCV000212079 RCV003318553 RCV004551268 RCV000709709 RCV001640164 RCV002285144 RCV003128150 RCV003492629
NM_000051.4(ATM):c.7559T>G (p.Met2520Arg)	SNV Germline	Chr11:108331487	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA169309	rs_587782692	5 SubmittersRCV000132126 RCV004589632 RCV000522314 RCV000627852
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)	SNV Germline	Chr11:108335080	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Ataxia-telangiectasia syndrome Gastric cancer Breast and/or ovarian cancer Familial prostate cancer	Criteria Provided Multiple Submitters No Conflicts	CA169419	rs_587782719	16 SubmittersRCV000255899 RCV000132208 RCV003467191 RCV000559678 RCV003162592 RCV003149912 RCV003230416
NM_000051.4(ATM):c.1378A>C (p.Thr460Pro)	SNV Germline	Chr11:108250843	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA169445	rs_587782729	4 SubmittersRCV000483286 RCV000132224 RCV000471709
NM_000051.4(ATM):c.3964C>A (p.Leu1322Ile)	SNV Germline	Chr11:108284444	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome not specified	Criteria Provided Conflicting Classifications	CA169707	rs_144535256	6 SubmittersRCV000132364 RCV000237005 RCV000204555 RCV004586564
NM_000051.4(ATM):c.94C>T (p.Arg32Cys)	SNV Germline	Chr11:108227797	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast Malignant tumor of breast not specified	Criteria Provided Conflicting Classifications	CA169733	rs_148061139	9 SubmittersRCV000236602 RCV000132385 RCV000233534 RCV001197402 RCV001355326 RCV002465534
NM_000051.4(ATM):c.2887A>G (p.Met963Val)	SNV Germline	Chr11:108271112	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome not specified Malignant tumor of breast Familial cancer of breast	Criteria Provided Conflicting Classifications	CA169888	rs_374353016	12 SubmittersRCV000132462 RCV000168295 RCV000236226 RCV001798460 RCV002225449 RCV001201309 RCV001355859 RCV004821983
NM_000051.4(ATM):c.1A>G (p.Met1Val)	SNV Germline	Chr11:108227625	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial pancreatic carcinoma Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA298204	rs_730881359	8 SubmittersRCV000258119 RCV001093019 RCV001175687 RCV001355020 RCV003137690
NM_000051.4(ATM):c.76G>C (p.Glu26Gln)	SNV Germline	Chr11:108227779	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA298210	rs_730881361	11 SubmittersRCV000159711 RCV000215116 RCV000465732 RCV000656754 RCV002288670
NM_000051.4(ATM):c.95G>A (p.Arg32His)	SNV Germline	Chr11:108227798	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided	Criteria Provided Conflicting Classifications	CA298213	rs_368161489	9 SubmittersRCV000459267 RCV000562263 RCV002288671 RCV001721017
NM_000051.4(ATM):c.283C>A (p.Gln95Lys)	SNV Germline	Chr11:108229275	Conflicting classifications of pathogenicity	Condition: not provided Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Ataxia-telangiectasia syndrome not specified	Criteria Provided Conflicting Classifications	CA298245	rs_587781545	9 SubmittersRCV000159724 RCV000229615 RCV000445811 RCV000764933 RCV001175058
NM_000051.4(ATM):c.398A>T (p.Asn133Ile)	SNV Germline	Chr11:108235736	Conflicting classifications of pathogenicity	Condition: not provided Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA298093	rs_730881330	6 SubmittersRCV000159666 RCV000543356 RCV001021590 RCV001193630
NM_000051.4(ATM):c.518G>T (p.Arg173Met)	SNV Germline	Chr11:108243974	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA298111	rs_372694758	8 SubmittersRCV000456186 RCV000575164 RCV000991561 RCV002281972
NM_000051.4(ATM):c.538C>T (p.Gln180Ter)	SNV Germline	Chr11:108243994	Pathogenic	Condition: not provided Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA298114	rs_730881333	9 SubmittersRCV000505724 RCV000531127 RCV001024018 RCV004019935
NM_000051.4(ATM):c.742C>T (p.Arg248Ter)	SNV Germline	Chr11:108244867	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA298123	rs_730881336	14 SubmittersRCV000159678 RCV000211945 RCV000410046 RCV000515228 RCV000709708 RCV003162669
NM_000051.4(ATM):c.1210C>G (p.Gln404Glu)	SNV Germline	Chr11:108249077	Conflicting classifications of pathogenicity	Condition: not provided Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA298138	rs_730881340	3 SubmittersRCV000159683 RCV000628061 RCV003162670
NM_000051.4(ATM):c.1671G>A (p.Met557Ile)	SNV Germline	Chr11:108251900	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA298141	rs_730881341	5 SubmittersRCV000159684 RCV000219319 RCV000532840
NM_000051.4(ATM):c.1727T>C (p.Ile576Thr)	SNV Germline	Chr11:108251956	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided not specified Familial cancer of breast ATM-related disorder	Criteria Provided Conflicting Classifications	CA298144	rs_730881342	13 SubmittersRCV000159685 RCV000196810 RCV000590025 RCV003230420 RCV003462071 RCV004739497
NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys)	SNV Germline	Chr11:108251977	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA298336	rs_587780614	10 SubmittersRCV000228653 RCV000218850 RCV000590682 RCV003467239
NM_000051.4(ATM):c.1792A>G (p.Ile598Val)	SNV Germline	Chr11:108252021	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome not specified	Criteria Provided Conflicting Classifications	CA298147	rs_730881343	7 SubmittersRCV000159686 RCV000211969 RCV000462248 RCV000780876
NM_000051.4(ATM):c.2011A>G (p.Ile671Val)	SNV Germline	Chr11:108253926	Conflicting classifications of pathogenicity	Condition: not provided Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA298153	rs_730881344	5 SubmittersRCV000159688 RCV000820528 RCV001186648
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly)	SNV Germline	Chr11:108254011	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Ataxia-telangiectasia syndrome Malignant tumor of breast Hereditary breast ovarian cancer syndrome Condition: not provided Familial cancer of breast ATM-related disorder	Criteria Provided Conflicting Classifications	CA200987	rs_147934285	16 SubmittersRCV000159606 RCV000174438 RCV000204474 RCV001356430 RCV002225458 RCV003477568 RCV004589658 RCV004551366
NM_000051.4(ATM):c.2159G>A (p.Arg720His)	SNV Germline	Chr11:108256249	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified Breast and/or ovarian cancer ATM-related disorder	Criteria Provided Conflicting Classifications	CA298156	rs_55830714	14 SubmittersRCV000159689 RCV000205354 RCV000211974 RCV001030522 RCV001174912 RCV001798544 RCV004551371
NM_000051.4(ATM):c.2251-10T>G	SNV Germline	Chr11:108257471	Pathogenic/Likely pathogenic	Condition: not provided Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast ATM-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA298162	rs_730881346	13 SubmittersRCV000159691 RCV000161929 RCV000580644 RCV000515310 RCV001253609 RCV004739498
NM_000051.4(ATM):c.2346A>G (p.Leu782=)	SNV Germline	Chr11:108257576	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Ataxia-telangiectasia syndrome Breast and/or ovarian cancer ATM-related disorder Familial cancer of breast	Criteria Provided Conflicting Classifications	CA297990	rs_730881285	13 SubmittersRCV000159608 RCV000211981 RCV000727061 RCV001085827 RCV001798540 RCV004551367 RCV004589660
NM_000051.4(ATM):c.2376+1G>T	SNV Germline	Chr11:108257607	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Multiple Submitters No Conflicts	CA298163	rs_730881347	3 SubmittersRCV000159692 RCV000568382 RCV000810067
NM_000051.4(ATM):c.2396C>T (p.Ala799Val)	SNV Germline	Chr11:108259005	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Ataxia-telangiectasia syndrome Condition: not provided Malignant tumor of breast Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA298164	rs_199954262	12 SubmittersRCV000159693 RCV000254631 RCV000472551 RCV001704147 RCV001355809 RCV003149969
NM_000051.4(ATM):c.2598T>G (p.Val866=)	SNV Germline	Chr11:108267302	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA298179	rs_730881350	6 SubmittersRCV000159699 RCV000562239 RCV001078605 RCV001199919 RCV004589671
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg)	SNV Germline	Chr11:108268506	Conflicting classifications of pathogenicity	not specified Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary cancer ATM-related disorder	Criteria Provided Conflicting Classifications	CA298188	rs_730881353	8 SubmittersRCV000159702 RCV000474750 RCV000567796 RCV001711426 RCV003492638 RCV004551372
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter)	SNV Germline	Chr11:108271378	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome Ataxia-telangiectasia syndrome Breast cancer, susceptibility to Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA298345	rs_730881388	9 SubmittersRCV000159761 RCV000211992 RCV000457084 RCV001258064 RCV003467240
NM_000051.4(ATM):c.3085A>T (p.Thr1029Ser)	SNV Germline	Chr11:108272539	Conflicting classifications of pathogenicity	Condition: not provided Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA298194	rs_730881355	6 SubmittersRCV000159705 RCV000234598 RCV001180649 RCV004567191
NM_000051.4(ATM):c.3154-2A>G	SNV Germline	Chr11:108272720	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Breast-ovarian cancer, familial, susceptibility to, 1 Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA298200	rs_730881357	12 SubmittersRCV000159707 RCV000206276 RCV000211994 RCV003128229 RCV003467229
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met)	SNV Germline	Chr11:108279505	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA298348	rs_189445371	10 SubmittersRCV000159762 RCV000215728 RCV000559406 RCV003467241
NM_000051.4(ATM):c.3304G>T (p.Gly1102Ter)	SNV Germline	Chr11:108279510	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA298219	rs_147557621	4 SubmittersRCV000159714 RCV000213174 RCV001388988 RCV004019936
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala)	SNV Germline	Chr11:108279558	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA298222	rs_572564322	10 SubmittersRCV000159715 RCV000211998 RCV000335065 RCV003226222 RCV004589672
NM_000051.4(ATM):c.3747-1G>C	SNV Germline	Chr11:108284226	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA298228	rs_730881364	5 SubmittersRCV000159717 RCV000494137 RCV001215130 RCV004019938
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)	SNV Germline	Chr11:108284328	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Malignant tumor of breast Familial cancer of breast Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA298351	rs_730881389	9 SubmittersRCV000159763 RCV000474326 RCV001290629 RCV002466454 RCV003225035
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys)	SNV Germline	Chr11:108284379	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast not specified	Criteria Provided Conflicting Classifications	CA298232	rs_183263185	12 SubmittersRCV000159719 RCV000212005 RCV000398586 RCV002288672 RCV002281973
NM_000051.4(ATM):c.3961A>G (p.Met1321Val)	SNV Germline	Chr11:108284441	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Malignant tumor of breast Familial cancer of breast	Criteria Provided Conflicting Classifications	CA298235	rs_730881366	7 SubmittersRCV000159720 RCV000573270 RCV000703729 RCV001357834 RCV004567192
NM_000051.4(ATM):c.4110-9C>A	SNV Germline	Chr11:108288968	Conflicting classifications of pathogenicity	Condition: not provided Ataxia-telangiectasia syndrome not specified	Criteria Provided Conflicting Classifications	CA298238	rs_730881367	3 SubmittersRCV000159721 RCV000472580 RCV002509261
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro)	SNV Germline	Chr11:108289759	Likely pathogenic	Condition: not provided Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast	Reviewed By Expert Panel	CA298357	rs_730881391	7 SubmittersRCV000159765 RCV000206187 RCV000220574 RCV003467242
NM_000051.4(ATM):c.4396C>G (p.Arg1466Gly)	SNV Germline	Chr11:108289761	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA298242	rs_730881369	6 SubmittersRCV000159723 RCV000212014 RCV000197917 RCV003467230
NM_000051.4(ATM):c.4466G>A (p.Arg1489His)	SNV Germline	Chr11:108292648	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA298251	rs_201594549	8 SubmittersRCV000159726 RCV000217727 RCV000467957 RCV003467232
NM_000051.4(ATM):c.4724G>A (p.Arg1575His)	SNV Germline	Chr11:108293425	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast not specified Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA298254	rs_550552791	15 SubmittersRCV000159727 RCV000204984 RCV000587149 RCV001250435 RCV001268973 RCV004760405
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe)	SNV Germline	Chr11:108293469	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast not specified	Criteria Provided Conflicting Classifications	CA298257	rs_35962982	15 SubmittersRCV000159728 RCV000196470 RCV000515177 RCV000589456 RCV001257475 RCV003321521
NM_000051.4(ATM):c.4856G>A (p.Arg1619Lys)	SNV Germline	Chr11:108295006	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified Familial cancer of breast ATM-related disorder	Criteria Provided Conflicting Classifications	CA298362	rs_730881393	11 SubmittersRCV000159767 RCV000213785 RCV000539303 RCV001194329 RCV004567195 RCV004739502
NM_000051.4(ATM):c.4932G>C (p.Met1644Ile)	SNV Germline	Chr11:108297309	Conflicting classifications of pathogenicity	Condition: not provided Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA298263	rs_730881371	6 SubmittersRCV000159730 RCV000457653 RCV000773112 RCV001798545
NM_000051.4(ATM):c.5630T>C (p.Phe1877Ser)	SNV Germline	Chr11:108304808	Conflicting classifications of pathogenicity	Condition: not provided Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Malignant tumor of breast Familial cancer of breast	Criteria Provided Conflicting Classifications	CA298278	rs_202028401	7 SubmittersRCV000159735 RCV000472045 RCV000567744 RCV001357645 RCV003338433
NM_000051.4(ATM):c.5825C>T (p.Ala1942Val)	SNV Germline	Chr11:108310222	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA298365	rs_730881394	8 SubmittersRCV000159768 RCV000218056 RCV000463126 RCV003462077
NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter)	SNV Germline	Chr11:108310287	Pathogenic/Likely pathogenic	Condition: not provided Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA298368	rs_201963507	8 SubmittersRCV000159769 RCV000206728 RCV000570753 RCV003467244
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)	SNV Germline	Chr11:108315911	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast Breast carcinoma Carcinoma of pancreas Adenocarcinoma Gastric cancer ATM-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA298296	rs_139770721	23 SubmittersRCV000159742 RCV000167946 RCV000212037 RCV000762824 RCV000709711 RCV001657897 RCV001391204 RCV001706063 RCV003162671 RCV004551374
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)	SNV Germline	Chr11:108316069	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Malignant tumor of breast Familial cancer of breast ATM-related disorder Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA298299	rs_202206540	19 SubmittersRCV000159743 RCV000167963 RCV000212039 RCV001357434 RCV001251135 RCV004739499 RCV004760406
NM_000051.4(ATM):c.6257A>T (p.Tyr2086Phe)	SNV Germline	Chr11:108317431	Conflicting classifications of pathogenicity	Condition: not provided Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA298305	rs_730881380	10 SubmittersRCV000159745 RCV000231734 RCV000568069 RCV001731490 RCV002288674
NM_000051.4(ATM):c.6604T>G (p.Tyr2202Asp)	SNV Germline	Chr11:108325341	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified Familial cancer of breast Ataxia-telangiectasia syndrome Condition: not provided Breast and/or ovarian cancer Familial cancer of breast	Criteria Provided Conflicting Classifications	CA298028	rs_730881311	13 SubmittersRCV000159641 RCV000199822 RCV000212047 RCV000764938 RCV000766519 RCV001798542 RCV003462068
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)	SNV Germline	Chr11:108325416	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome Malignant tumor of breast Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA298317	rs_564652222	23 SubmittersRCV000159749 RCV000196419 RCV000212048 RCV000762827 RCV001255479 RCV002288675
NM_000051.4(ATM):c.6823A>G (p.Ile2275Val)	SNV Germline	Chr11:108326073	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast not specified ATM-related disorder	Criteria Provided Conflicting Classifications	CA298040	rs_587779857	9 SubmittersRCV000219191 RCV000456777 RCV000589270 RCV002484994 RCV003467220 RCV003226221 RCV004724945
NM_000051.4(ATM):c.7307+4A>G	SNV Germline	Chr11:108329242	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA298052	rs_730881316	3 SubmittersRCV000159649 RCV000212061 RCV001051122
NM_000051.4(ATM):c.7494T>C (p.Ser2498=)	SNV Germline	Chr11:108330400	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified Condition: not provided Carcinoma of colon Breast and/or ovarian cancer ATM-related disorder Familial cancer of breast	Criteria Provided Conflicting Classifications	CA297966	rs_34393781	15 SubmittersRCV000159594 RCV000205045 RCV000212070 RCV000589020 RCV001356383 RCV003492636 RCV004551364 RCV004589650
NM_000051.4(ATM):c.7927+10T>C	SNV Germline	Chr11:108332910	Conflicting classifications of pathogenicity	not specified Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA297970	rs_730881277	5 SubmittersRCV000159596 RCV000198055 RCV000582584 RCV004998307 RCV004589651
NM_000051.4(ATM):c.7997C>A (p.Thr2666Asn)	SNV Germline	Chr11:108333955	Pathogenic/Likely pathogenic	Condition: not provided Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA298325	rs_730881384	4 SubmittersRCV000159752 RCV000628059 RCV001027026 RCV003467237
NM_000051.4(ATM):c.8405A>G (p.Gln2802Arg)	SNV Germline	Chr11:108343358	Conflicting classifications of pathogenicity	Condition: not provided Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA298077	rs_730881324	7 SubmittersRCV000159660 RCV000464909 RCV000562069 RCV003467222
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln)	SNV Germline	Chr11:108345752	Conflicting classifications of pathogenicity	Condition: not provided Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Ataxia-telangiectasia syndrome not specified Malignant tumor of breast Familial cancer of breast	Criteria Provided Conflicting Classifications	CA298080	rs_730881325	17 SubmittersRCV000159661 RCV000168380 RCV000569229 RCV000764950 RCV001526890 RCV001354380 RCV003467223
NM_000051.4(ATM):c.8532T>C (p.Ile2844=)	SNV Germline	Chr11:108345856	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Ataxia-telangiectasia syndrome Condition: not provided ATM-related disorder Familial cancer of breast	Criteria Provided Conflicting Classifications	CA297972	rs_730881278	13 SubmittersRCV000159598 RCV000212085 RCV000231198 RCV001580007 RCV004551365 RCV004589652
NM_000051.4(ATM):c.8584+2T>C	SNV Germline	Chr11:108345910	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA298083	rs_730881326	7 SubmittersRCV000411372 RCV000567828 RCV001798543 RCV003462070
NM_000051.4(ATM):c.8672-13T>G	SNV Germline	Chr11:108353753	Conflicting classifications of pathogenicity	not specified Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA297978	rs_730881280	3 SubmittersRCV000159600 RCV001857580 RCV004567186
NM_000051.4(ATM):c.8988-1G>C	SNV Germline	Chr11:108365324	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA298332	rs_730881386	10 SubmittersRCV000159756 RCV000563949 RCV000627869 RCV002492633 RCV003467238
NM_000051.4(ATM):c.9008A>G (p.Asn3003Ser)	SNV Germline	Chr11:108365345	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA298099	rs_144636562	8 SubmittersRCV000159669 RCV000221585 RCV000531722 RCV004567189
NM_000051.4(ATM):c.9031A>G (p.Met3011Val)	SNV Germline	Chr11:108365368	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided not specified Familial cancer of breast ATM-related disorder	Criteria Provided Conflicting Classifications	CA298102	rs_372795527	13 SubmittersRCV000159670 RCV000196967 RCV000212097 RCV000779780 RCV003153436 RCV004739496
NM_000051.4(ATM):c.9166G>T (p.Val3056Leu)	SNV Germline	Chr11:108365503	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast ATM-related disorder	Criteria Provided Conflicting Classifications	CA298108	rs_371767164	13 SubmittersRCV000159672 RCV000200661 RCV000589071 RCV003467224 RCV004551370
NM_000051.4(ATM):c.1A>C (p.Met1Leu)	SNV Germline	Chr11:108227625	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA197028	rs_730881359	7 SubmittersRCV000166918 RCV000576648 RCV004019993
NM_000051.4(ATM):c.2T>C (p.Met1Thr)	SNV Germline	Chr11:108227626	Pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast	Reviewed By Expert Panel	CA197209	rs_786203606	13 SubmittersRCV000166992 RCV000168377 RCV000519260 RCV003483551 RCV002221505
NM_000051.4(ATM):c.115A>G (p.Thr39Ala)	SNV Germline	Chr11:108227818	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Malignant tumor of breast Ataxia-telangiectasia syndrome Familial cancer of breast not specified ATM-related disorder	Criteria Provided Conflicting Classifications	CA190693	rs_779297339	14 SubmittersRCV000164338 RCV000231502 RCV000416278 RCV001535538 RCV002288733 RCV002509264 RCV004552886
NM_000051.4(ATM):c.131A>G (p.Asp44Gly)	SNV Germline	Chr11:108227834	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA194916	rs_150143957	13 SubmittersRCV000590355 RCV000166071 RCV000197254 RCV001255212 RCV003474873
NM_000051.4(ATM):c.151C>T (p.Gln51Ter)	SNV Germline	Chr11:108227854	Pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA198174	rs_786203888	3 SubmittersRCV000167389 RCV001068287 RCV004019997
NM_000051.4(ATM):c.180T>G (p.Val60=)	SNV Germline	Chr11:108227883	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA188454	rs_786201375	5 SubmittersRCV000163497 RCV000628316 RCV002291576 RCV004589713
NM_000051.4(ATM):c.332-3T>C	SNV Germline	Chr11:108235667	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast ATM-related disorder not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA194908	rs_376116157	7 SubmittersRCV000166067 RCV000226757 RCV004589781 RCV004552915 RCV000430214 RCV001704210
NM_000051.4(ATM):c.411C>T (p.Tyr137=)	SNV Germline	Chr11:108235749	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided not specified Familial cancer of breast ATM-related disorder	Criteria Provided Conflicting Classifications	CA186984	rs_756160533	8 SubmittersRCV000162797 RCV000272976 RCV001721030 RCV002222414 RCV004589690 RCV004551383
NM_000051.4(ATM):c.507T>C (p.Ser169=)	SNV Germline	Chr11:108243963	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified Breast and/or ovarian cancer Condition: not provided Familial cancer of breast ATM-related disorder	Criteria Provided Conflicting Classifications	CA187471	rs_758619186	14 SubmittersRCV000163111 RCV000228014 RCV000500341 RCV001798569 RCV001711435 RCV004589699 RCV004551385
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter)	SNV Germline	Chr11:108243969	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA190051	rs_786201693	8 SubmittersRCV000164103 RCV000520700 RCV000533506 RCV003467285
NM_000051.4(ATM):c.712A>G (p.Ile238Val)	SNV Germline	Chr11:108244837	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA194160	rs_754275014	13 SubmittersRCV000165761 RCV000235409 RCV000229485 RCV001196993
NM_000051.4(ATM):c.858A>G (p.Gln286=)	SNV Germline	Chr11:108244983	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified Condition: not provided ATM-related disorder Familial cancer of breast	Criteria Provided Conflicting Classifications	CA191148	rs_145301478	8 SubmittersRCV000164514 RCV000468266 RCV000606983 RCV002460940 RCV004552892 RCV004589750
NM_000051.4(ATM):c.901+1G>A	SNV Germline	Chr11:108245027	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA195792	rs_748840480	11 SubmittersRCV000166407 RCV000205735 RCV000515230 RCV003474877
NM_000051.4(ATM):c.901+3A>T	SNV Germline	Chr11:108245029	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA195265	rs_786203070	3 SubmittersRCV000166211 RCV003500509
NM_000051.4(ATM):c.1065+1G>T	SNV Germline	Chr11:108247128	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome Malignant tumor of breast Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA194915	rs_201089102	11 SubmittersRCV000166070 RCV000436210 RCV000411731 RCV001420920 RCV003468770
NM_000051.4(ATM):c.1261T>C (p.Ser421Pro)	SNV Germline	Chr11:108250726	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA193982	rs_376196220	5 SubmittersRCV000165683 RCV000203884 RCV000480887 RCV003468750
NM_000051.4(ATM):c.1271C>A (p.Pro424His)	SNV Germline	Chr11:108250736	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA190822	rs_147472613	10 SubmittersRCV000164384 RCV000218574 RCV000526201 RCV001193062 RCV003467294
NM_000051.4(ATM):c.1351C>T (p.Arg451Cys)	SNV Germline	Chr11:108250816	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided ATM-related disorder Familial cancer of breast	Criteria Provided Conflicting Classifications	CA191951	rs_201719927	11 SubmittersRCV000164863 RCV000200270 RCV000235327 RCV004552897 RCV004589759
NM_000051.4(ATM):c.1481G>A (p.Gly494Asp)	SNV Germline	Chr11:108250946	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast Ovarian cancer Condition: not provided	Criteria Provided Conflicting Classifications	CA192151	rs_786202233	8 SubmittersRCV000164949 RCV000669269 RCV003462158 RCV003153443 RCV001574162
NM_000051.4(ATM):c.1483A>G (p.Ile495Val)	SNV Germline	Chr11:108250948	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA191185	rs_786201969	5 SubmittersRCV000164527 RCV000627916 RCV000589044 RCV002247566
NM_000051.4(ATM):c.1547T>C (p.Leu516Ser)	SNV Germline	Chr11:108251012	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA192036	rs_786202195	2 SubmittersRCV000164896 RCV001349973
NM_000051.4(ATM):c.1648A>G (p.Ile550Val)	SNV Germline	Chr11:108251877	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome Malignant tumor of breast ATM-related disorder	Criteria Provided Conflicting Classifications	CA192929	rs_202144949	10 SubmittersRCV000165266 RCV001721071 RCV002288745 RCV000470788 RCV001356838 RCV004552903
NM_000051.4(ATM):c.1670T>C (p.Met557Thr)	SNV Germline	Chr11:108251899	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA194138	rs_786202770	4 SubmittersRCV000165751 RCV000486174 RCV000556946
NM_000051.4(ATM):c.1689G>A (p.Met563Ile)	SNV Germline/somatic	Chr11:108251918	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Neoplasm	Criteria Provided Conflicting Classifications	CA192994	rs_786202469	3 SubmittersRCV000165292 RCV000466714 RCV004668824
NM_000051.4(ATM):c.1700A>G (p.Asn567Ser)	SNV Germline	Chr11:108251929	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast Condition: not provided	Criteria Provided Conflicting Classifications	CA195908	rs_786203230	6 SubmittersRCV000166452 RCV001071389 RCV004567303 RCV000235690
NM_000051.4(ATM):c.1737G>A (p.Trp579Ter)	SNV Germline	Chr11:108251966	Pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA190035	rs_786201689	4 SubmittersRCV000164097 RCV001215174 RCV004019962
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro)	SNV Germline	Chr11:108252858	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA197807	rs_786203783	8 SubmittersRCV000167236 RCV004721285 RCV003444209 RCV000819663
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys)	SNV Germline	Chr11:108253989	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided not specified Breast and/or ovarian cancer Familial cancer of breast Hereditary breast ovarian cancer syndrome ATM-related disorder	Criteria Provided Conflicting Classifications	CA189945	rs_765965513	11 SubmittersRCV000164063 RCV000168071 RCV000219263 RCV000780902 RCV003150012 RCV003316015 RCV003483533 RCV004739514
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter)	SNV Germline	Chr11:108254013	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome	Criteria Provided Multiple Submitters No Conflicts	CA194043	rs_786202743	8 SubmittersRCV000165710 RCV000762816 RCV000430405 RCV003462186 RCV000525812
NM_000051.4(ATM):c.2220A>G (p.Ala740=)	SNV Germline	Chr11:108256310	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified Malignant tumor of breast Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA188498	rs_56353517	11 SubmittersRCV000163515 RCV000232692 RCV001192849 RCV001356556 RCV001711329 RCV003315999
NM_000051.4(ATM):c.2251-4A>G	SNV Germline	Chr11:108257477	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA194765	rs_786202935	9 SubmittersRCV000628167 RCV000658621 RCV000166010 RCV003462196
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter)	SNV Germline	Chr11:108259035	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome Malignant tumor of breast	Criteria Provided Multiple Submitters No Conflicts	CA197946	rs_730881348	7 SubmittersRCV000167295 RCV000235751 RCV003468805 RCV000457197 RCV003114318
NM_000051.4(ATM):c.2492A>G (p.Asp831Gly)	SNV Germline	Chr11:108267196	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA196932	rs_587781352	9 SubmittersRCV000166878 RCV000474811 RCV000478109 RCV002498828 RCV003315416
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala)	SNV Germline	Chr11:108267226	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast Ataxia-telangiectasia syndrome Condition: not provided Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA189280	rs_587781812	12 SubmittersRCV000163825 RCV000205271 RCV000515444 RCV000589287 RCV003492681
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly)	SNV Germline	Chr11:108267310	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Hereditary breast ovarian cancer syndrome not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA190672	rs_145513717	12 SubmittersRCV000164332 RCV000476653 RCV000479991 RCV002225480 RCV002465546 RCV003467290
NM_000051.4(ATM):c.2615C>T (p.Pro872Leu)	SNV Germline	Chr11:108267319	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA194919	rs_786202977	4 SubmittersRCV000166072 RCV000196727 RCV003468771
NM_000051.4(ATM):c.2743A>G (p.Thr915Ala)	SNV Germline	Chr11:108268514	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA195398	rs_786203106	3 SubmittersRCV000695920 RCV000166264 RCV004721284
NM_000051.4(ATM):c.2778A>G (p.Lys926=)	SNV Germline	Chr11:108268549	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided ATM-related disorder Familial cancer of breast	Criteria Provided Conflicting Classifications	CA187843	rs_372569168	9 SubmittersRCV000163247 RCV000332678 RCV001706073 RCV004551389 RCV004589707
NM_000051.4(ATM):c.2789T>G (p.Leu930Ter)	SNV Germline	Chr11:108268560	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Ataxia-telangiectasia syndrome	Criteria Provided Multiple Submitters No Conflicts	CA196179	rs_786203309	5 SubmittersRCV000166556 RCV003462218 RCV000410598
NM_000051.4(ATM):c.2804C>G (p.Thr935Arg)	SNV Germline	Chr11:108268575	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Hereditary breast ovarian cancer syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA190962	rs_3218708	9 SubmittersRCV000164443 RCV000557491 RCV001030525 RCV000779788 RCV003238729
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg)	SNV Germline	Chr11:108271074	Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA195209	rs_786203054	8 SubmittersRCV000166191 RCV000255989 RCV000628016 RCV003483541 RCV003468776
NM_000051.4(ATM):c.2927T>C (p.Val976Ala)	SNV Germline	Chr11:108271256	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided not specified Familial cancer of breast Hereditary cancer	Criteria Provided Conflicting Classifications	CA196789	rs_146145357	10 SubmittersRCV000166813 RCV000230218 RCV000588819 RCV002271439 RCV003462227 RCV003491911
NM_000051.4(ATM):c.2945G>A (p.Arg982His)	SNV Germline	Chr11:108271274	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA190572	rs_749471737	14 SubmittersRCV000164299 RCV000235707 RCV000476746 RCV002247564 RCV003325192
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro)	SNV Germline	Chr11:108272591	Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Ataxia-telangiectasia syndrome Condition: not provided	Reviewed By Expert Panel	CA195169	rs_568461905	12 SubmittersRCV000166173 RCV002221504 RCV000667954 RCV001795288
NM_000051.4(ATM):c.3349C>T (p.Gln1117Ter)	SNV Germline	Chr11:108279555	Pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast ATM-related cancer predisposition	Reviewed By Expert Panel	CA191131	rs_786201957	4 SubmittersRCV000164505 RCV000554388 RCV004019965 RCV005001009
NM_000051.4(ATM):c.3378A>G (p.Lys1126=)	SNV Germline	Chr11:108279584	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome ATM-related disorder Malignant tumor of breast Familial cancer of breast	Criteria Provided Conflicting Classifications	CA191584	rs_149182949	13 SubmittersRCV000164706 RCV000858786 RCV000206390 RCV004552894 RCV001357285 RCV004589755
NM_000051.4(ATM):c.3447T>C (p.Asn1149=)	SNV Germline	Chr11:108281039	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Ataxia-telangiectasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA192470	rs_763473729	5 SubmittersRCV000165081 RCV004589764 RCV001248472 RCV001704200
NM_000051.4(ATM):c.3467C>T (p.Thr1156Met)	SNV Germline	Chr11:108281059	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Malignant tumor of breast not specified ATM-related disorder	Criteria Provided Conflicting Classifications	CA186974	rs_759951393	7 SubmittersRCV000162792 RCV000167875 RCV000478106 RCV001354530 RCV003479031 RCV004551382
NM_000051.4(ATM):c.3468G>A (p.Thr1156=)	SNV Germline	Chr11:108281060	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified Condition: not provided Familial cancer of breast ATM-related disorder	Criteria Provided Conflicting Classifications	CA186944	rs_148358896	10 SubmittersRCV000162776 RCV000198955 RCV000419306 RCV001721028 RCV004589688 RCV004551381
NM_000051.4(ATM):c.3588A>G (p.Lys1196=)	SNV Germline	Chr11:108282721	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified Condition: not provided ATM-related disorder Familial cancer of breast	Criteria Provided Conflicting Classifications	CA188209	rs_376524625	8 SubmittersRCV000163406 RCV000205348 RCV000779757 RCV001711328 RCV004551395 RCV004589710
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg)	SNV Germline	Chr11:108284286	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast ATM-related disorder Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer not specified	Criteria Provided Conflicting Classifications	CA193557	rs_146017595	17 SubmittersRCV000165498 RCV000206887 RCV000590439 RCV000763700 RCV003462176 RCV004552911 RCV004764775 RCV001798592 RCV004700508
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg)	SNV Germline	Chr11:108287688	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided not specified Familial cancer of breast ATM-related disorder	Criteria Provided Conflicting Classifications	CA191395	rs_141921797	14 SubmittersRCV000164614 RCV000167992 RCV000479421 RCV000780899 RCV003153441 RCV004739522
NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg)	SNV Germline	Chr11:108289730	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Hereditary breast ovarian cancer syndrome Ataxia-telangiectasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA193670	rs_527471560	7 SubmittersRCV000165552 RCV000780910 RCV001030530 RCV000232578 RCV001589033
NM_000051.4(ATM):c.4451T>C (p.Met1484Thr)	SNV Germline	Chr11:108292633	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Ovarian cancer Familial cancer of breast	Criteria Provided Conflicting Classifications	CA197812	rs_786203785	6 SubmittersRCV000167238 RCV001212030 RCV003153456 RCV004567337
NM_000051.4(ATM):c.4456G>C (p.Val1486Leu)	SNV Germline	Chr11:108292638	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA196339	rs_786203352	5 SubmittersRCV000166626 RCV000205290 RCV003324726
NM_000051.4(ATM):c.4492T>C (p.Leu1498=)	SNV Germline	Chr11:108292674	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome not specified Breast and/or ovarian cancer ATM-related disorder Familial cancer of breast	Criteria Provided Conflicting Classifications	CA189119	rs_748949478	10 SubmittersRCV000163758 RCV000761806 RCV001085061 RCV002265641 RCV003492680 RCV004551410 RCV004589727
NM_000051.4(ATM):c.4665C>T (p.Leu1555=)	SNV Germline	Chr11:108293366	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA188508	rs_374431061	8 SubmittersRCV000163519 RCV000330293 RCV000725936 RCV001081281 RCV004589714
NM_000051.4(ATM):c.4702C>T (p.His1568Tyr)	SNV Germline	Chr11:108293403	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA192867	rs_753269143	7 SubmittersRCV000165250 RCV000531059 RCV003468736 RCV002273966 RCV004689637
NM_000051.4(ATM):c.4776G>C (p.Glu1592Asp)	SNV Germline	Chr11:108293477	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA194897	rs_786202973	3 SubmittersRCV000166063 RCV000548784 RCV004786469
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter)	SNV Germline/somatic	Chr11:108295002	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome ATM-related disorder Familial cancer of breast Abnormal central motor function Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA197013	rs_762083530	17 SubmittersRCV000166912 RCV000483137 RCV000525721 RCV004739542 RCV001808440 RCV001814077 RCV003162714
NM_000051.4(ATM):c.4853G>A (p.Arg1618Gln)	SNV Germline	Chr11:108295003	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA190612	rs_765759912	7 SubmittersRCV000164315 RCV000228294 RCV000994709 RCV003474856
NM_000051.4(ATM):c.4910-4C>T	SNV Germline	Chr11:108297283	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA193116	rs_786202493	6 SubmittersRCV000165333 RCV000444016 RCV000628273 RCV004589770
NM_000051.4(ATM):c.4964C>A (p.Ser1655Tyr)	SNV Germline	Chr11:108297341	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome not specified Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA187451	rs_786201215	8 SubmittersRCV000163104 RCV000486511 RCV000804749 RCV002228686 RCV002485008 RCV004589698
NM_000051.4(ATM):c.5101A>G (p.Lys1701Glu)	SNV Germline	Chr11:108299809	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA193341	rs_746220021	2 SubmittersRCV000165416 RCV001327802
NM_000051.4(ATM):c.5352C>T (p.Asn1784=)	SNV Germline	Chr11:108302885	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome not specified ATM-related disorder Familial cancer of breast	Criteria Provided Conflicting Classifications	CA186379	rs_140641762	12 SubmittersRCV000162510 RCV000732576 RCV000988695 RCV004700498 RCV004551378 RCV004589675
NM_000051.4(ATM):c.5417T>C (p.Ile1806Thr)	SNV Germline	Chr11:108302950	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Breast and/or ovarian cancer Condition: not provided Familial cancer of breast not specified	Criteria Provided Conflicting Classifications	CA194797	rs_773546064	8 SubmittersRCV000166025 RCV000232405 RCV003491904 RCV001571325 RCV003462197 RCV003493474
NM_000051.4(ATM):c.5497-2A>G	SNV Germline	Chr11:108304673	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Ataxia-telangiectasia syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA197864	rs_786203796	7 SubmittersRCV000167256 RCV003468802 RCV000627890 RCV004719730
NM_000051.4(ATM):c.6006+1G>A	SNV Germline	Chr11:108312499	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA191382	rs_786202016	3 SubmittersRCV000164608 RCV001215993 RCV004019966
NM_000051.4(ATM):c.6108T>C (p.Tyr2036=)	SNV Germline	Chr11:108316023	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Malignant tumor of breast not specified Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA192745	rs_3092826	12 SubmittersRCV000165201 RCV001085669 RCV001356445 RCV000586950 RCV001528538 RCV004589768
NM_000051.4(ATM):c.6114C>T (p.His2038=)	SNV Germline	Chr11:108316029	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified Condition: not provided Breast and/or ovarian cancer Malignant tumor of breast Familial cancer of breast	Criteria Provided Conflicting Classifications	CA198154	rs_774993357	11 SubmittersRCV000167380 RCV000458818 RCV000438751 RCV004546446 RCV001798601 RCV001355851 RCV004589824
NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp)	SNV Germline	Chr11:108316060	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Ataxia-telangiectasia syndrome not specified Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA197753	rs_786203767	8 SubmittersRCV000523725 RCV000167214 RCV004567335 RCV000628069 RCV003330526 RCV003483552
NM_000051.4(ATM):c.6198G>C (p.Gln2066His)	SNV Germline	Chr11:108316113	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA196294	rs_786203341	4 SubmittersRCV000166609 RCV000235567 RCV001205244
NM_000051.4(ATM):c.6198+3A>G	SNV Germline	Chr11:108316116	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA191660	rs_786202092	7 SubmittersRCV000164733 RCV000532401 RCV000486622 RCV003462146
NM_000051.4(ATM):c.6234C>T (p.Ser2078=)	SNV Germline	Chr11:108317408	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Ataxia-telangiectasia syndrome Breast and/or ovarian cancer Familial cancer of breast	Criteria Provided Conflicting Classifications	CA187719	rs_569483748	11 SubmittersRCV000163200 RCV000422005 RCV000726706 RCV001081503 RCV001798573 RCV004589705
NM_000051.4(ATM):c.6382T>C (p.Leu2128=)	SNV Germline	Chr11:108319988	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified ATM-related disorder Familial cancer of breast	Criteria Provided Conflicting Classifications	CA195413	rs_753646931	16 SubmittersRCV000200503 RCV000166269 RCV003477627 RCV000432613 RCV004552918 RCV004589788
NM_000051.4(ATM):c.6465G>A (p.Val2155=)	SNV Germline	Chr11:108321313	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA188290	rs_140423883	11 SubmittersRCV000163439 RCV000439900 RCV000679135 RCV001083758 RCV004589712
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met)	SNV Germline	Chr11:108321385	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast ATM-related disorder Hereditary breast ovarian cancer syndrome not specified	Criteria Provided Conflicting Classifications	CA194187	rs_146243469	16 SubmittersRCV000165775 RCV000205267 RCV000590569 RCV000764937 RCV003474869 RCV004739529 RCV002225485 RCV003387784
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu)	SNV Germline	Chr11:108326110	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided not specified Malignant tumor of breast Familial cancer of breast	Criteria Provided Conflicting Classifications	CA190777	rs_1800061	14 SubmittersRCV000164364 RCV000234176 RCV000485783 RCV001201232 RCV001355759 RCV003467292
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile)	SNV Germline	Chr11:108327673	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome ATM-related disorder Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA196086	rs_3092831	15 SubmittersRCV000168468 RCV000166521 RCV003468785 RCV003483545 RCV004739536 RCV000586878 RCV000855628
NM_000051.4(ATM):c.7135C>G (p.Leu2379Val)	SNV Germline	Chr11:108329066	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Ataxia-telangiectasia syndrome Familial cancer of breast Condition: not provided	Criteria Provided Conflicting Classifications	CA194928	rs_778888033	12 SubmittersRCV000166076 RCV002509268 RCV000463701 RCV001257490 RCV000236581
NM_000051.4(ATM):c.7157C>A (p.Ala2386Glu)	SNV Germline	Chr11:108329088	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA197532	rs_786203697	3 SubmittersRCV000167115 RCV000627922 RCV000487239
NM_000051.4(ATM):c.7174C>T (p.Arg2392Trp)	SNV Germline	Chr11:108329105	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified Familial cancer of breast Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Malignant tumor of breast Condition: not provided ATM-related disorder	Criteria Provided Conflicting Classifications	CA196089	rs_149827260	15 SubmittersRCV000166522 RCV000168469 RCV000855629 RCV003468786 RCV003483546 RCV001356845 RCV000590313 RCV004739537
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser)	SNV Germline	Chr11:108329166	Conflicting classifications of pathogenicity	Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA196193	rs_786203311	12 SubmittersRCV000235284 RCV000764942 RCV000166564 RCV001358721 RCV003468787 RCV000205986
NM_000051.4(ATM):c.7289A>G (p.His2430Arg)	SNV Germline	Chr11:108329220	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome Ovarian cancer	Criteria Provided Conflicting Classifications	CA194451	rs_786202856	6 SubmittersRCV000165890 RCV001770130 RCV004567287 RCV000458599 RCV003153448
NM_000051.4(ATM):c.7307G>A (p.Arg2436Lys)	SNV Germline	Chr11:108329238	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast ATM-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA196452	rs_786203394	8 SubmittersRCV000166679 RCV000230377 RCV003338435 RCV004739538 RCV004724961
NM_000051.4(ATM):c.7359T>G (p.Arg2453=)	SNV Germline	Chr11:108330265	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA189323	rs_786201541	6 SubmittersRCV000163843 RCV000195799 RCV001088026 RCV004589733
NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys)	SNV Germline	Chr11:108330281	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast not specified Breast and/or ovarian cancer Ataxia-telangiectasia syndrome Familial cancer of breast Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA193139	rs_730881383	17 SubmittersRCV000165342 RCV000512906 RCV002288746 RCV001193059 RCV003491896 RCV000197298 RCV000764943
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr)	SNV Germline	Chr11:108330369	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Malignant tumor of breast Ataxia-telangiectasia syndrome Hereditary cancer Ataxia-telangiectasia syndrome Ataxia-telangiectasia syndrome not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA196568	rs_774281788	12 SubmittersRCV000166722 RCV000255700 RCV004689641 RCV001535786 RCV000509266 RCV000541770 RCV001175362 RCV002247573
NM_000051.4(ATM):c.7522G>A (p.Gly2508Arg)	SNV Germline	Chr11:108331450	Conflicting classifications of pathogenicity	Condition: not provided Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome ATM-related disorder not specified Hereditary cancer Familial cancer of breast	Criteria Provided Conflicting Classifications	CA197186	rs_754395517	10 SubmittersRCV000235394 RCV000461205 RCV000166982 RCV004552929 RCV004800304 RCV004698829 RCV004567324
NM_000051.4(ATM):c.7542T>C (p.Tyr2514=)	SNV Germline	Chr11:108331470	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Ataxia-telangiectasia syndrome ATM-related disorder Familial cancer of breast Condition: not provided	Criteria Provided Conflicting Classifications	CA197160	rs_777925486	10 SubmittersRCV000166968 RCV000430989 RCV000463235 RCV004552928 RCV004589813 RCV001711449
NM_000051.4(ATM):c.7570G>C (p.Ala2524Pro)	SNV Germline	Chr11:108331498	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA198094	rs_769142993	3 SubmittersRCV000550379 RCV000167357 RCV003319326
NM_000051.4(ATM):c.7629+2T>C	SNV Germline	Chr11:108331559	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast Familial cancer of breast Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA195221	rs_786203059	8 SubmittersRCV000236019 RCV000166196 RCV000697479 RCV001171408 RCV000762828
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val)	SNV Germline	Chr11:108332789	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial cancer of breast Familial cancer of breast Ataxia-telangiectasia syndrome Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA196681	rs_376824528	15 SubmittersRCV000166765 RCV000513206 RCV000625763 RCV002265647 RCV002485035 RCV000197716
NM_000051.4(ATM):c.7948G>A (p.Asp2650Asn)	SNV Germline	Chr11:108333906	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA192109	rs_786202219	3 SubmittersRCV000164935 RCV002516471 RCV003468725
NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser)	SNV Germline	Chr11:108343246	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA194563	rs_748634900	7 SubmittersRCV000165932 RCV000200060 RCV003468762 RCV004821986
NM_000051.4(ATM):c.8479T>A (p.Phe2827Ile)	SNV Germline	Chr11:108345803	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA193918	rs_370152402	3 SubmittersRCV000165657 RCV000628018 RCV000485679
NM_000051.4(ATM):c.8530A>G (p.Ile2844Val)	SNV Germline	Chr11:108345854	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA198113	rs_756230327	5 SubmittersRCV000779779 RCV000167366 RCV000473223 RCV001562843
NM_000051.4(ATM):c.8556T>C (p.Tyr2852=)	SNV Germline	Chr11:108345880	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA188843	rs_779394254	6 SubmittersRCV000163648 RCV000612311 RCV000539465 RCV002478499 RCV004589719
NM_000051.4(ATM):c.8596C>G (p.Leu2866Val)	SNV Germline	Chr11:108347290	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA194948	rs_368666328	9 SubmittersRCV000168218 RCV000166084 RCV002272149 RCV003316050
NM_000051.4(ATM):c.8711A>G (p.Glu2904Gly)	SNV Germline	Chr11:108353805	Likely pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA194327	rs_786202826	6 SubmittersRCV000165842 RCV000230822 RCV000659280
NM_000051.4(ATM):c.8763G>A (p.Thr2921=)	SNV Germline	Chr11:108353857	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA188268	rs_781528244	6 SubmittersRCV000163433 RCV000700345 RCV001651032 RCV004589711
NM_000051.4(ATM):c.8786+1G>C	SNV Germline	Chr11:108353881	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Gastric cancer Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA196631	rs_17174393	7 SubmittersRCV000254910 RCV000166748 RCV000196816 RCV003162711 RCV003468793
NM_000051.4(ATM):c.8786+1G>T	SNV Germline	Chr11:108353881	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA189911	rs_17174393	9 SubmittersRCV000164050 RCV000540315 RCV001558979 RCV002485015 RCV003467284
NM_000051.4(ATM):c.8938C>A (p.Leu2980Ile)	SNV Germline	Chr11:108365169	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA197606	rs_786203721	6 SubmittersRCV000167148 RCV004567331 RCV004589818 RCV000537024
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)	SNV Germline	Chr11:108365208	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Ataxia-telangiectasia syndrome Condition: not provided Hereditary breast ovarian cancer syndrome Ataxia-telangiectasia syndrome Koolen-de Vries syndrome Familial cancer of breast Breast cancer, susceptibility to	Criteria Provided Multiple Submitters No Conflicts	CA194505	rs_770641163	20 SubmittersRCV000165909 RCV000515430 RCV000414034 RCV000416708 RCV000169469 RCV004767107 RCV003462193 RCV001265579
NM_000051.4(ATM):c.8987+1G>C	SNV Germline	Chr11:108365219	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA197313	rs_786203631	3 SubmittersRCV000167026 RCV003500511 RCV004019994
NM_000051.4(ATM):c.8987+3G>A	SNV Germline	Chr11:108365221	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome not specified Condition: not provided Familial ovarian cancer ATM-related disorder Familial cancer of breast	Criteria Provided Conflicting Classifications	CA189127	rs_56360226	11 SubmittersRCV000163760 RCV000233461 RCV000318833 RCV000725914 RCV001357667 RCV004551411 RCV004589728
NM_000051.4(ATM):c.8988-2A>G	SNV Germline	Chr11:108365323	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Breast cancer, susceptibility to Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA191650	rs_786202087	7 SubmittersRCV000164726 RCV000627859 RCV001258066 RCV003468720
NM_000051.4(ATM):c.9045G>A (p.Glu3015=)	SNV Germline	Chr11:108365382	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome ATM-related disorder Familial cancer of breast	Criteria Provided Conflicting Classifications	CA196279	rs_786203336	7 SubmittersRCV000166602 RCV001704222 RCV000459874 RCV004552924 RCV004589803
NM_000051.4(ATM):c.9119T>C (p.Ile3040Thr)	SNV Germline	Chr11:108365456	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA197338	rs_369870357	6 SubmittersRCV000167036 RCV000526903 RCV003156228 RCV004567325
NM_000051.4(ATM):c.72+1G>A	SNV Germline	Chr11:108227697	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA334106	rs_786204088	7 SubmittersRCV000167987 RCV000777649 RCV004019999 RCV001564314
NM_000051.4(ATM):c.134G>A (p.Arg45Gln)	SNV Germline	Chr11:108227837	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast not specified	Criteria Provided Conflicting Classifications	CA334193	rs_762382111	7 SubmittersRCV000217445 RCV000235357 RCV000168047 RCV003468822 RCV004586586
NM_000051.4(ATM):c.928A>G (p.Ser310Gly)	SNV Germline	Chr11:108246990	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided	Criteria Provided Conflicting Classifications	CA334063	rs_745773225	9 SubmittersRCV000167964 RCV000219840 RCV003338436 RCV000481289
NM_000051.4(ATM):c.2921+1G>C	SNV Germline	Chr11:108271147	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA334038	rs_587781558	8 SubmittersRCV000217319 RCV000236109 RCV000167947 RCV003468819
NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn)	SNV Germline	Chr11:108279501	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Malignant tumor of breast not specified ATM-related disorder	Criteria Provided Conflicting Classifications	CA334286	rs_372966951	10 SubmittersRCV000168114 RCV000590021 RCV000214286 RCV003462257 RCV001354999 RCV001731417 RCV004739548
NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr)	SNV Germline	Chr11:108289669	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA334280	rs_769980220	8 SubmittersRCV000168111 RCV000780906 RCV000220668 RCV000478130 RCV003468825
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile)	SNV Germline	Chr11:108304790	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast not specified	Criteria Provided Conflicting Classifications	CA334655	rs_538452060	11 SubmittersRCV000168364 RCV000221360 RCV000236794 RCV003468831 RCV004689646
NM_000051.4(ATM):c.3G>A (p.Met1Ile)	SNV Germline	Chr11:108227627	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided See cases	Criteria Provided Multiple Submitters No Conflicts	CA274099	rs_781404312	14 SubmittersRCV000169261 RCV000223021 RCV004020015 RCV000215466 RCV004797788
NM_000051.4(ATM):c.802C>T (p.Gln268Ter)	SNV Germline	Chr11:108244927	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA274188	rs_557012154	9 SubmittersRCV000169336 RCV000519059 RCV000222842 RCV003468841
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter)	SNV Germline	Chr11:108301658	Pathogenic/Likely pathogenic	Gastric cancer Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA334791	rs_764389018	10 SubmittersRCV003162723 RCV000570483 RCV000169451 RCV000657610 RCV003468844
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)	SNV Germline	Chr11:108304693	Pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided ATM-related cancer predisposition	Reviewed By Expert Panel	CA274462	rs_786204751	11 SubmittersRCV000169605 RCV000777919 RCV001310117 RCV001579826 RCV005001013
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter)	SNV Germline	Chr11:108304822	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast Familial cancer of breast Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA334788	rs_786204433	15 SubmittersRCV000169043 RCV000235346 RCV003129794 RCV004796061 RCV000213135 RCV003162721
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter)	SNV Germline	Chr11:108343260	Pathogenic	Ataxia-telangiectasia syndrome Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome ATM-related cancer predisposition	Reviewed By Expert Panel	CA334794	rs_778269655	11 SubmittersRCV000169516 RCV003468846 RCV001564923 RCV000579481 RCV005001012
NM_000051.4(ATM):c.8518T>C (p.Leu2840=)	SNV Germline	Chr11:108345842	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA246478	rs_794727769	5 SubmittersRCV000179200 RCV000563134 RCV001426526 RCV004589833
NM_000051.4(ATM):c.8732C>T (p.Thr2911Ile)	SNV Germline	Chr11:108353826	Conflicting classifications of pathogenicity	Breast cancer, early-onset Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA203836	rs_794728018	6 SubmittersRCV000181011 RCV000214902 RCV000537344 RCV000486041 RCV002465556
NM_000051.4(ATM):c.140C>G (p.Ser47Ter)	SNV Germline	Chr11:108227843	Pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA336635	rs_774185390	3 SubmittersRCV000196694 RCV002390530 RCV003454496
NM_000051.4(ATM):c.748C>T (p.Arg250Ter)	SNV Germline	Chr11:108244873	Pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of breast Gastric cancer Familial cancer of breast ATM-related disorder ATM-related cancer predisposition	Reviewed By Expert Panel	CA336868	rs_772821016	17 SubmittersRCV000196975 RCV000216766 RCV000479464 RCV001328429 RCV003165463 RCV003468894 RCV004739586 RCV005001014
NM_000051.4(ATM):c.1899-10T>G	SNV Germline	Chr11:108253804	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Malignant tumor of breast Condition: not provided Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA338810	rs_763685190	6 SubmittersRCV000199706 RCV000582294 RCV001355136 RCV001565593 RCV003150083
NM_000051.4(ATM):c.1943T>C (p.Val648Ala)	SNV Germline	Chr11:108253858	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA335930	rs_141175037	8 SubmittersRCV000195774 RCV000221613 RCV000479071 RCV000780905 RCV003474956
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter)	SNV Germline/somatic	Chr11:108259022	Pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome Hereditary breast ovarian cancer syndrome Malignant tumor of urinary bladder Breast and/or ovarian cancer Familial cancer of breast	Reviewed By Expert Panel	CA338870	rs_780619951	19 SubmittersRCV000199790 RCV000221009 RCV000489745 RCV000762818 RCV001030523 RCV003332139 RCV003491940 RCV003468893
NM_000051.4(ATM):c.2480A>G (p.Lys827Arg)	SNV Germline	Chr11:108267184	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA337420	rs_372230498	6 SubmittersRCV000197770 RCV000218054 RCV003462316
NM_000051.4(ATM):c.2838+9C>G	SNV Germline	Chr11:108268618	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome ATM-related disorder Familial cancer of breast Condition: not provided	Criteria Provided Conflicting Classifications	CA337973	rs_370160823	6 SubmittersRCV000198514 RCV000579471 RCV004553071 RCV004589847 RCV004700594
NM_000051.4(ATM):c.3153+9T>C	SNV Germline	Chr11:108272616	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Familial cancer of breast	Criteria Provided Conflicting Classifications	CA339555	rs_770464168	4 SubmittersRCV000200790 RCV000777898 RCV003150084 RCV004589850
NM_000051.4(ATM):c.3613C>T (p.Arg1205Cys)	SNV Germline	Chr11:108282746	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Condition: not provided Hereditary cancer-predisposing syndrome not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA335899	rs_760928285	8 SubmittersRCV000195728 RCV000479830 RCV000562379 RCV001192418 RCV004786534
NM_000051.4(ATM):c.3843T>G (p.Ser1281Arg)	SNV Germline	Chr11:108284323	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA338716	rs_863224565	6 SubmittersRCV000199552 RCV000567335 RCV001555609 RCV003462317
NM_000051.4(ATM):c.4109+6T>C	SNV Germline	Chr11:108287721	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Condition: not provided Hereditary cancer-predisposing syndrome not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA336807	rs_368606937	7 SubmittersRCV000196920 RCV000588070 RCV000776097 RCV001530925 RCV004589864
NM_000051.4(ATM):c.4437-9C>T	SNV Germline	Chr11:108292610	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided ATM-related disorder Familial cancer of breast	Criteria Provided Conflicting Classifications	CA335706	rs_766003804	10 SubmittersRCV000195466 RCV000433234 RCV000582132 RCV001722111 RCV004553087 RCV004589865
NM_000051.4(ATM):c.5675-4T>A	SNV Germline	Chr11:108307893	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Ataxia-telangiectasia syndrome Malignant tumor of breast ATM-related disorder	Criteria Provided Conflicting Classifications	CA336609	rs_56075338	10 SubmittersRCV000214255 RCV000590713 RCV001085879 RCV001355672 RCV004553073
NM_000051.4(ATM):c.6007-5T>C	SNV Germline	Chr11:108315818	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA338988	rs_863224294	4 SubmittersRCV000199950 RCV001175894 RCV004589854
NM_000051.4(ATM):c.6845A>G (p.Asn2282Ser)	SNV Germline	Chr11:108326095	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA339436	rs_863224579	5 SubmittersRCV000200616 RCV000567702 RCV001582694 RCV003468901
NM_000051.4(ATM):c.7240C>T (p.Gln2414Ter)	SNV Germline	Chr11:108329171	Pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA339145	rs_863224462	3 SubmittersRCV000200187 RCV000492913 RCV004020459
NM_000051.4(ATM):c.7808A>G (p.Asn2603Ser)	SNV Germline	Chr11:108332781	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Malignant tumor of breast not specified Hereditary cancer-predisposing syndrome Ovarian cancer Condition: not provided	Criteria Provided Conflicting Classifications	CA335994	rs_150355232	8 SubmittersRCV000195852 RCV001357358 RCV001818483 RCV002408879 RCV003153470 RCV003325466
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser)	SNV Germline	Chr11:108332899	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA337507	rs_863224440	7 SubmittersRCV000197870 RCV000215938 RCV000420030 RCV001250432
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp)	SNV Germline	Chr11:108333943	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA339537	rs_863224463	8 SubmittersRCV000200768 RCV001176540 RCV003468895
NM_000051.4(ATM):c.8584+6C>G	SNV Germline	Chr11:108345914	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA339118	rs_863224300	3 SubmittersRCV000200137 RCV000771942
NM_000051.4(ATM):c.8959G>C (p.Asp2987His)	SNV Germline	Chr11:108365190	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA338090	rs_863224582	4 SubmittersRCV000198659 RCV002444808 RCV003468903
NM_000051.4(ATM):c.185+1G>A	SNV Germline	Chr11:108227889	Likely pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA349320	rs_112805604	4 SubmittersRCV000205116 RCV002408894 RCV003468943
NM_000051.4(ATM):c.319T>C (p.Cys107Arg)	SNV Germline	Chr11:108229311	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA350592	rs_864622508	2 SubmittersRCV000206572 RCV004686577
NM_000051.4(ATM):c.785T>A (p.Leu262Ter)	SNV Germline	Chr11:108244910	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA350365	rs_864622163	6 SubmittersRCV000206320 RCV003462368 RCV004948211
NM_000051.4(ATM):c.946T>C (p.Tyr316His)	SNV Germline	Chr11:108247008	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA348479	rs_142317485	11 SubmittersRCV000204232 RCV000234905 RCV000486900 RCV001818502 RCV003468951
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter)	SNV Germline	Chr11:108250834	Pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast Ataxia-telangiectasia syndrome Abnormal central motor function Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA349954	rs_749036865	11 SubmittersRCV000205849 RCV000493633 RCV000762813 RCV001814115 RCV003322602
NM_000051.4(ATM):c.1511A>G (p.Asn504Ser)	SNV Germline	Chr11:108250976	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA349700	rs_56365018	4 SubmittersRCV000205555 RCV000218923 RCV001778794
NM_000051.4(ATM):c.1584T>C (p.Thr528=)	SNV Germline	Chr11:108251049	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA348353	rs_864622408	4 SubmittersRCV001012289 RCV001465734 RCV004589884
NM_000051.4(ATM):c.1607+1G>T	SNV Germline	Chr11:108251073	Pathogenic	Ataxia-telangiectasia syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast	Reviewed By Expert Panel	CA348209	rs_772926890	9 SubmittersRCV000203930 RCV000235749 RCV000563715 RCV002221512
NM_000051.4(ATM):c.2127T>G (p.Ile709Met)	SNV Germline	Chr11:108256217	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA350788	rs_56252953	6 SubmittersRCV000206792 RCV000222064 RCV002243888 RCV003493501
NM_000051.4(ATM):c.2463T>G (p.Ser821Arg)	SNV Germline	Chr11:108259072	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Malignant tumor of breast Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA349704	rs_864622412	4 SubmittersRCV000205560 RCV001358330 RCV002453740 RCV003468944
NM_000051.4(ATM):c.2879C>A (p.Pro960His)	SNV Germline	Chr11:108271104	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome not specified	Criteria Provided Conflicting Classifications	CA350856	rs_587779828	7 SubmittersRCV000206872 RCV000217962 RCV001030526 RCV001174579
NM_000051.4(ATM):c.3077+1G>A	SNV Germline	Chr11:108271407	Likely pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA350862	rs_192810283	5 SubmittersRCV000206879 RCV001018496 RCV001531757 RCV004020519
NM_000051.4(ATM):c.3284+1G>A	SNV Germline	Chr11:108272853	Likely pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA350813	rs_864622129	6 SubmittersRCV000206819 RCV000220530 RCV000235974 RCV004020504
NM_000051.4(ATM):c.3577-7C>T	SNV Germline	Chr11:108282703	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA348263	rs_558667657	7 SubmittersRCV000203985 RCV000429730 RCV000579566 RCV001722129 RCV004589893
NM_000051.4(ATM):c.3601T>A (p.Phe1201Ile)	SNV Germline	Chr11:108282734	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast ATM-related disorder	Criteria Provided Conflicting Classifications	CA349153	rs_576884305	9 SubmittersRCV000204970 RCV000567287 RCV000726329 RCV002478738 RCV003462391 RCV004739600
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter)	SNV Germline	Chr11:108282796	Pathogenic	Ataxia-telangiectasia syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA350108	rs_864622490	12 SubmittersRCV000206039 RCV000235543 RCV000563523 RCV002478731 RCV003468949
NM_000051.4(ATM):c.3886C>T (p.Pro1296Ser)	SNV Germline	Chr11:108284366	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA350768	rs_864622654	5 SubmittersRCV000206762 RCV000478981 RCV000573505
NM_000051.4(ATM):c.3993G>C (p.Gln1331His)	SNV Germline	Chr11:108284473	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA350344	rs_863224566	4 SubmittersRCV000206293 RCV000221742 RCV000479019 RCV003468966
NM_000051.4(ATM):c.3994-159A>G	SNV Germline	Chr11:108287441	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA349592	rs_864622543	3 SubmittersRCV000205430 RCV001021603 RCV004701272
NM_000051.4(ATM):c.4588G>T (p.Glu1530Ter)	SNV Germline	Chr11:108292770	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA349160	rs_864622479	4 SubmittersRCV000204978 RCV001022740 RCV004020529
NM_000051.4(ATM):c.5002C>T (p.Leu1668=)	SNV Germline	Chr11:108297379	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer Familial cancer of breast	Criteria Provided Conflicting Classifications	CA350792	rs_747317946	11 SubmittersRCV000206796 RCV000565986 RCV001355666 RCV003491959 RCV004589891
NM_000051.4(ATM):c.5320-10T>C	SNV Germline	Chr11:108302843	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome not specified Hereditary cancer-predisposing syndrome ATM-related disorder Familial cancer of breast Condition: not provided	Criteria Provided Conflicting Classifications	CA350374	rs_864622731	7 SubmittersRCV000206328 RCV000439365 RCV000777916 RCV004547501 RCV004589901 RCV004998435
NM_000051.4(ATM):c.5375T>C (p.Ile1792Thr)	SNV Germline	Chr11:108302908	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Malignant tumor of breast Familial cancer of breast Condition: not provided	Criteria Provided Conflicting Classifications	CA350670	rs_776309355	7 SubmittersRCV000206668 RCV000566874 RCV001354647 RCV002288821 RCV004786540
NM_000051.4(ATM):c.5410A>T (p.Ile1804Phe)	SNV Germline	Chr11:108302943	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA349227	rs_769872474	8 SubmittersRCV000205064 RCV000570407 RCV001785516
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys)	SNV Germline	Chr11:108316030	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Condition: not provided Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Familial cancer of breast ATM-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA348515	rs_864622251	11 SubmittersRCV000204272 RCV000255601 RCV000574550 RCV001270952 RCV003334385 RCV004547473
NM_000051.4(ATM):c.6198+5A>G	SNV Germline	Chr11:108316118	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Conflicting Classifications	CA349713	rs_771047560	6 SubmittersRCV000205574 RCV000568174 RCV004589879
NM_000051.4(ATM):c.6318T>C (p.Asn2106=)	SNV Germline	Chr11:108317492	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast	Criteria Provided Conflicting Classifications	CA350275	rs_864622730	6 SubmittersRCV000206216 RCV000571280 RCV001561845 RCV004589900
NM_000051.4(ATM):c.6348-2A>G	SNV Germline	Chr11:108319952	Likely pathogenic	Ataxia-telangiectasia syndrome Familial cancer of breast Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA348351	rs_864622367	3 SubmittersRCV000204096 RCV004020520 RCV004948215
NM_000051.4(ATM):c.6452+5T>A	SNV Germline	Chr11:108320063	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA349451	rs_533830556	7 SubmittersRCV000205279 RCV000219944 RCV001722120 RCV001798679
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu)	SNV Germline	Chr11:108321351	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Ataxia-telangiectasia syndrome not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA350774	rs_200431631	12 SubmittersRCV000206774 RCV000216900 RCV000588892 RCV000763709 RCV001268980 RCV004567472
NM_000051.4(ATM):c.7566A>G (p.Gln2522=)	SNV Germline	Chr11:108331494	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Condition: not provided Hereditary cancer-predisposing syndrome not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA350418	rs_775621333	7 SubmittersRCV000206378 RCV000483209 RCV000574825 RCV001193662 RCV004589890
NM_000051.4(ATM):c.7789-3T>G	SNV Germline	Chr11:108332759	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Familial cancer of breast Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA350818	rs_864622185	12 SubmittersRCV000206828 RCV000562166 RCV001270955 RCV001310118 RCV003326373
NM_000051.4(ATM):c.7880A>G (p.Tyr2627Cys)	SNV Germline	Chr11:108332853	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome Condition: not provided ATM-related disorder	Criteria Provided Conflicting Classifications	CA348974	rs_767670019	7 SubmittersRCV000204776 RCV000567581 RCV003477687 RCV004547478
NM_000051.4(ATM):c.7928-2A>T	SNV Germline	Chr11:108333884	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA349800	rs_864622610	2 SubmittersRCV000205665 RCV002415871
NM_000051.4(ATM):c.7996A>G (p.Thr2666Ala)	SNV Germline	Chr11:108333954	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome not specified Malignant tumor of breast	Criteria Provided Conflicting Classifications	CA349494	rs_745775382	5 SubmittersRCV000205336 RCV000222128 RCV001193061 RCV001356715
NM_000051.4(ATM):c.8988-1G>A	SNV Germline	Chr11:108365324	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA348186	rs_730881386	13 SubmittersRCV000203896 RCV000440256 RCV000570351 RCV001171410
NM_000051.4(ATM):c.6198+1G>A	SNV Germline	Chr11:108316114	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome Condition: not provided Ataxia-telangiectasia syndrome Abnormal central motor function Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA6265875	rs_778031266	12 SubmittersRCV000222023 RCV000416815 RCV000519640 RCV000668415 RCV001814117 RCV003468967
NM_000051.4(ATM):c.-30-1G>T	SNV Germline	Chr11:108227594	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Familial cancer of breast Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA353500	rs_869312754	7 SubmittersRCV000210108 RCV000255796 RCV001171384 RCV002478758
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter)	SNV Germline	Chr11:108293436	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Condition: not provided Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA353545	rs_869312755	10 SubmittersRCV000210197 RCV000234068 RCV000255389 RCV004020572
NM_000051.4(ATM):c.5762+1G>T	SNV Germline	Chr11:108307985	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA353503	rs_869312756	7 SubmittersRCV000210115 RCV000229503 RCV003468971
NM_000051.4(ATM):c.2455T>C (p.Cys819Arg)	SNV Germline	Chr11:108259064	Conflicting classifications of pathogenicity	Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA6265024	rs_775644968	3 SubmittersRCV000211457 RCV000566647
NM_000051.4(ATM):c.799A>G (p.Thr267Ala)	SNV Germline	Chr11:108244924	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome Familial cancer of breast Ataxia-telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA10577424	rs_876660962	7 SubmittersRCV000214811 RCV000567197 RCV000818514 RCV002503873

SNV
Germline

Chr11:108309110

Pathogenic

Ataxia - telangiectasia variant
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Breast and/or ovarian cancer
Familial cancer of breast
ATM-related disorder
ATM-related cancer predisposition

Reviewed By Expert Panel

CA115927

rs_774925473

17 SubmittersRCV000003157 RCV000229886 RCV000494077 RCV000724150 RCV002496239 RCV003149561 RCV003466789 RCV004739283 RCV005000979

NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys)

SNV
Germline

Chr11:108345804

Conflicting classifications of pathogenicity

Ataxia - telangiectasia variant
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA115928

rs_121434216

6 SubmittersRCV000003158 RCV000581067 RCV000628126 RCV003230344 RCV003231072 RCV003460407

NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)

SNV
Germline/somatic

Chr11:108329202

Pathogenic

T-cell prolymphocytic leukemia
Breast cancer, susceptibility to
Ataxia - telangiectasia variant
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Breast neoplasm
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Breast and/or ovarian cancer
Inherited breast cancer and ovarian cancer
NICE approved PARP inhibitor treatment
ATM-related disorder

Reviewed By Expert Panel

CA115930

rs_28904921

32 SubmittersRCV000003160 RCV000003161 RCV000003159 RCV000115244 RCV000168223 RCV000212060 RCV000417259 RCV000515429 RCV000709707 RCV003149562 RCV004584137 RCV004584175 RCV004739284

NM_000051.4(ATM):c.103C>T (p.Arg35Ter)

SNV
Germline

Chr11:108227806

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA166087

rs_55861249

23 SubmittersRCV000003164 RCV000130278 RCV000236608 RCV000515417 RCV003466790 RCV004797749

NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter)

SNV
Germline/somatic

Chr11:108365476

Pathogenic

Ataxia-telangiectasia without immunodeficiency
Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome
Malignant tumor of urinary bladder

Reviewed By Expert Panel

CA115937

rs_121434219

14 SubmittersRCV000003168 RCV000199061 RCV000485169 RCV000493958 RCV002221466 RCV002476914 RCV003332073

NM_000051.4(ATM):c.3576G>A (p.Lys1192=)

SNV
Germline

Chr11:108281168

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast
Malignant tumor of pancreas
Familial cancer of breast
Ataxia-telangiectasia syndrome
ATM-related cancer predisposition

Reviewed By Expert Panel

CA193897

rs_587776551

25 SubmittersRCV000003174 RCV000165646 RCV000236731 RCV001797990 RCV002467434 RCV004554582 RCV004819202 RCV005000980

NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)

SNV
Germline

Chr11:108330233

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer
Carcinoma of pancreas
Tip-toe gait
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA325513

rs_121434220

23 SubmittersRCV000003175 RCV000220229 RCV000484232 RCV001250440 RCV001270953 RCV001391206 RCV003318492 RCV004797750

NM_000051.4(ATM):c.4081C>T (p.Gln1361Ter)

SNV
Germline/somatic

Chr11:108287687

Pathogenic

Mantle cell lymphoma
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA249428

rs_121434222

3 SubmittersRCV000003182 RCV000524615 RCV004018543

NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter)

SNV
Germline/somatic

Chr11:108301779

Pathogenic

T-cell prolymphocytic leukemia
Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA115949

rs_121434223

6 SubmittersRCV000003183 RCV000814605 RCV003155908 RCV003362659

NM_000051.4(ATM):c.2250G>A (p.Lys750=)

SNV
Germline

Chr11:108256340

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Malignant tumor of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA286741

rs_1137887

28 SubmittersRCV000003185 RCV000115149 RCV000235101 RCV000762817 RCV001171385 RCV001354985

NM_000051.4(ATM):c.8030A>G (p.Tyr2677Cys)

SNV
Germline

Chr11:108334988

Likely pathogenic

Ataxia - telangiectasia variant
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA249431

rs_28942103

4 SubmittersRCV000003186 RCV000545206 RCV001027090 RCV004018544

NM_000051.4(ATM):c.496+5G>A

SNV
Germline

Chr11:108235839

Pathogenic/Likely pathogenic

Ataxia - telangiectasia variant
Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA115952

rs_796051858

11 SubmittersRCV000003188 RCV000235952 RCV000213739 RCV000558736 RCV001249854 RCV003466791

NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe)

SNV
Germline

Chr7:140778053

Pathogenic

Cardiofaciocutaneous syndrome 1
Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
Noonan syndrome
Condition: not provided
RASopathy
Ataxia-telangiectasia syndrome
BRAF-related disorder
Cardiovascular phenotype

Reviewed By Expert Panel

CA273414

rs_180177036

13 SubmittersRCV000015009 RCV000208764 RCV000211749 RCV000680805 RCV001172276 RCV001849264 RCV003415705 RCV004018629

NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)

SNV
Germline

Chr11:108317374

Pathogenic/Likely pathogenic

Ataxia - telangiectasia variant
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
Familial cancer of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA130514

rs_397514577

18 SubmittersRCV000032965 RCV000166627 RCV000258124 RCV000762825 RCV001268054 RCV001356731 RCV001762078 RCV003492323 RCV004760349

NM_004333.6(BRAF):c.1411G>T (p.Val471Phe)

SNV
Germline

Chr7:140781597

Pathogenic/Likely pathogenic

Condition: not provided
RASopathy
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA281968

rs_121913376

3 SubmittersRCV000033308 RCV000654957 RCV002051798

NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)

SNV
Germline

Chr11:108247071

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Malignant tumor of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA286702

rs_138398778

20 SubmittersRCV000656756 RCV000780894 RCV001356891 RCV001762215 RCV000115130 RCV000168399

NM_000051.4(ATM):c.1010G>A (p.Arg337His)

SNV
Germline

Chr11:108247072

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Malignant tumor of breast
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA286705

rs_202160435

19 SubmittersRCV001174655 RCV001257472 RCV001354564 RCV003492451 RCV000115131 RCV000204640 RCV000211955

NM_000051.4(ATM):c.1132A>G (p.Ser378Gly)

SNV
Germline

Chr11:108248999

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA286711

rs_587779811

5 SubmittersRCV000477027 RCV000561450 RCV003479006 RCV000115134

NM_000051.4(ATM):c.1138T>A (p.Tyr380Asn)

SNV
Germline

Chr11:108249005

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA286714

rs_34083085

9 SubmittersRCV000464763 RCV000590112 RCV004589554 RCV004767076 RCV000115135

NM_000051.4(ATM):c.1229T>C (p.Val410Ala)

SNV
Germline

Chr11:108249096

Conflicting classifications of pathogenicity

Condition: not provided
Carcinoma of colon
Breast and/or ovarian cancer
ATM-related disorder
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA157210

rs_56128736

30 SubmittersRCV000590142 RCV001356635 RCV001798307 RCV004549538 RCV004589555 RCV000115136 RCV000119195 RCV000120171

NM_000051.4(ATM):c.1235G>A (p.Trp412Ter)

SNV
Germline

Chr11:108249102

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA286720

rs_587779813

6 SubmittersRCV000567498 RCV001038728 RCV001358353 RCV004019605 RCV000115138

NM_000051.4(ATM):c.125A>G (p.His42Arg)

SNV
Germline

Chr11:108227828

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Malignant tumor of breast
Familial cancer of breast
Ovarian cancer
Breast and/or ovarian cancer
ATM-related disorder
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA286723

rs_201773026

15 SubmittersRCV000231946 RCV001030450 RCV001719857 RCV001358550 RCV003315633 RCV003153366 RCV003492452 RCV004739385 RCV000115139 RCV000211940

NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)

SNV
Germline

Chr11:108250804

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Breast cancer, susceptibility to
Familial cancer of breast
Gastric cancer
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274271

rs_587779815

16 SubmittersRCV001258117 RCV003460799 RCV003162534 RCV000115141 RCV000169409 RCV000211960

NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)

SNV
Germline

Chr11:108250909

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
ATM-related disorder
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA286729

rs_202173660

20 SubmittersRCV000779759 RCV001762217 RCV004739386 RCV000115142 RCV000197378 RCV000211962

NM_000051.4(ATM):c.1516G>T (p.Gly506Cys)

SNV
Germline

Chr11:108250981

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
not specified
Familial cancer of breast
Breast and/or ovarian cancer
ATM-related disorder
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA286732

rs_587779816

15 SubmittersRCV000515225 RCV001818258 RCV003237336 RCV003149791 RCV004549539 RCV000115143 RCV000168231 RCV000211963

NM_000051.4(ATM):c.170G>A (p.Trp57Ter)

SNV
Germline

Chr11:108227873

Pathogenic

Familial cancer of breast
Ataxia-telangiectasia syndrome
Breast cancer, susceptibility to
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA286735

rs_587779818

17 SubmittersRCV001257476 RCV001258115 RCV001509557 RCV000115145 RCV000197540 RCV000211942

NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)

SNV
Germline

Chr11:108251973

Conflicting classifications of pathogenicity

Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA151457

rs_2235006

32 SubmittersRCV000588398 RCV001269378 RCV001798308 RCV003315634 RCV000115146 RCV000122822 RCV000120118

NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)

SNV
Germline

Chr11:108252824

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
ATM-related disorder
Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA157068

rs_2227922

37 SubmittersRCV000590282 RCV001197813 RCV001374543 RCV001356948 RCV001798309 RCV004549541 RCV000115147 RCV000120119 RCV000122824

NM_000051.4(ATM):c.202A>G (p.Ile68Val)

SNV
Germline

Chr11:108229194

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided
Carcinoma of colon
Breast and/or ovarian cancer
Familial cancer of breast
ATM-related disorder
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA286738

rs_35389822

15 SubmittersRCV000515328 RCV000587881 RCV001355668 RCV003149792 RCV003467020 RCV004739387 RCV000115148 RCV000199503

NM_000051.4(ATM):c.2275A>G (p.Ser759Gly)

SNV
Germline

Chr11:108257505

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided
Breast and/or ovarian cancer
not specified
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA286747

rs_148705269

15 SubmittersRCV000515206 RCV000589762 RCV001798310 RCV002469010 RCV003460800 RCV000115151 RCV000205470

NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)

SNV
Germline

Chr11:108257519

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided
Familial ovarian cancer
Breast and/or ovarian cancer
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA286750

rs_34231402

25 SubmittersRCV000515303 RCV000588896 RCV001355251 RCV001798311 RCV004589556 RCV000115152 RCV000122834 RCV000211979

NM_000051.4(ATM):c.2333A>G (p.Asn778Ser)

SNV
Germline

Chr11:108257563

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA286753

rs_587779820

9 SubmittersRCV000589935 RCV000115153 RCV000195938

NM_000051.4(ATM):c.2564T>C (p.Met855Thr)

SNV
Germline

Chr11:108267268

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA286763

rs_587779824

6 SubmittersRCV000565873 RCV000698456 RCV002288587 RCV000115158

NM_000051.4(ATM):c.2608A>G (p.Asn870Asp)

SNV
Germline

Chr11:108267312

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
Familial cancer of breast
ATM-related disorder
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA286769

rs_61734354

16 SubmittersRCV000211984 RCV000767896 RCV000858203 RCV001354304 RCV004589558 RCV004549542 RCV000115160 RCV000168041

NM_000051.4(ATM):c.2630G>C (p.Ser877Thr)

SNV
Germline

Chr11:108267334

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA286772

rs_370269552

10 SubmittersRCV001083203 RCV001174578 RCV002288588 RCV000115161 RCV000211985

NM_000051.4(ATM):c.2638+2T>C

SNV
Germline

Chr11:108267344

Pathogenic/Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA286775

rs_587779826

13 SubmittersRCV000211986 RCV000477335 RCV001171402 RCV003330437 RCV000115162

NM_000051.4(ATM):c.2770C>T (p.Arg924Trp)

SNV
Germline

Chr11:108268541

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
not specified
Familial cancer of breast
ATM-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA286776

rs_55723361

20 SubmittersRCV000232085 RCV000590158 RCV000763692 RCV001549271 RCV002288589 RCV004739388 RCV000115163

NM_000051.4(ATM):c.2919A>G (p.Leu973=)

SNV
Germline

Chr11:108271144

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Malignant tumor of breast
not specified
Familial cancer of breast
ATM-related disorder
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA286785

rs_587779829

11 SubmittersRCV000463962 RCV001355592 RCV004525873 RCV004589559 RCV004549544 RCV000115166 RCV000211990

NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)

SNV
Germline

Chr11:108271261

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA286788

rs_139552233

29 SubmittersRCV000211991 RCV000584904 RCV001356395 RCV001798313 RCV004589560 RCV000115167 RCV000119220

NM_000051.4(ATM):c.295A>G (p.Ser99Gly)

SNV
Germline

Chr11:108229287

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided
not specified
Familial cancer of breast
ATM-related disorder
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA286794

rs_137882485

19 SubmittersRCV000515313 RCV000588846 RCV000855626 RCV001293035 RCV004739389 RCV000115169 RCV000196996

NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser)

SNV
Germline

Chr11:108271343

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast
Breast and/or ovarian cancer
ATM-related disorder
Hereditary cancer
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA208751

rs_146531614

22 SubmittersRCV000515446 RCV000588986 RCV001079613 RCV001354960 RCV002291557 RCV003492454 RCV004549545 RCV004700416 RCV000115171 RCV000194529

NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr)

SNV
Germline

Chr11:108272743

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
not specified
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA204829

rs_370282831

9 SubmittersRCV000465718 RCV000515253 RCV000779787 RCV001249849 RCV003467024 RCV000115172 RCV000211995

NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)

SNV
Germline

Chr11:108229312

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided
not specified
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
ATM-related disorder
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA286800

rs_142358238

18 SubmittersRCV000515352 RCV000589242 RCV001260261 RCV001357199 RCV002225317 RCV004589561 RCV004549546 RCV000115173 RCV000198992

NM_000051.4(ATM):c.334G>A (p.Ala112Thr)

SNV
Germline

Chr11:108235672

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
ATM-related disorder
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA286806

rs_146382972

15 SubmittersRCV000515264 RCV000588561 RCV001354149 RCV002225318 RCV004549547 RCV004589562 RCV000115175 RCV000195412 RCV000211948

NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter)

SNV
Germline

Chr11:108279578

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Breast and/or ovarian cancer
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA274336

rs_587779833

12 SubmittersRCV000515217 RCV003492455 RCV003467025 RCV000115176 RCV000169463 RCV000211999

NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr)

SNV
Germline

Chr11:108281041

Conflicting classifications of pathogenicity

not specified
Familial cancer of breast
Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA286809

rs_555219189

10 SubmittersRCV001818259 RCV003338413 RCV000115177 RCV000199179 RCV000215488

NM_000051.4(ATM):c.3836G>A (p.Trp1279Ter)

SNV
Germline

Chr11:108284316

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA286819

rs_587779836

6 SubmittersRCV001274265 RCV004019606 RCV000115181 RCV000212003

NM_000051.4(ATM):c.3931C>T (p.Gln1311Ter)

SNV
Germline

Chr11:108284411

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA286822

rs_200976093

3 SubmittersRCV000492834 RCV003500505 RCV000115183

NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)

SNV
Germline

Chr11:108287666

Conflicting classifications of pathogenicity

Condition: not provided
Malignant tumor of breast
Hereditary cancer
ATM-related disorder
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA206573

rs_145119475

21 SubmittersRCV000656759 RCV001354169 RCV003492456 RCV004549549 RCV004589563 RCV000115184 RCV000168271 RCV000193232

NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)

SNV
Germline

Chr11:108287672

Conflicting classifications of pathogenicity

Condition: not provided
Malignant tumor of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Breast and/or ovarian cancer
ATM-related disorder
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA286825

rs_147600485

18 SubmittersRCV000586490 RCV001358328 RCV001535806 RCV003492457 RCV004739390 RCV004589564 RCV000115185 RCV000122846 RCV000212008

NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)

SNV
Germline

Chr11:108289015

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
not specified
Malignant tumor of breast
See cases
Familial cancer of breast
ATM-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA286831

rs_141087784

22 SubmittersRCV000212009 RCV000459643 RCV000780883 RCV001354350 RCV002251983 RCV003474711 RCV004549550 RCV000115187

NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)

SNV
Germline

Chr11:108289689

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided
not specified
Familial cancer of breast
Malignant tumor of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
ATM-related disorder
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA286840

rs_201666889

25 SubmittersRCV000515173 RCV000586538 RCV000855627 RCV001257491 RCV001355810 RCV003149793 RCV003482131 RCV004549551 RCV000115190 RCV000168302

NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)

SNV
Germline

Chr11:108289727

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
ATM-related disorder
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA286843

rs_148993589

19 SubmittersRCV001080906 RCV001193007 RCV001257478 RCV004739391 RCV000115191 RCV000212012

NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg)

SNV
Germline

Chr11:108289740

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast
ATM-related disorder
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA286846

rs_145667735

17 SubmittersRCV000515274 RCV000586694 RCV001249852 RCV001824608 RCV003460803 RCV004549552 RCV000115192 RCV000196015

NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)

SNV
Germline

Chr11:108289753

Conflicting classifications of pathogenicity

Condition: not provided
Malignant tumor of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA151463

rs_138327406

23 SubmittersRCV000588436 RCV001356026 RCV004589565 RCV000115193 RCV000122848 RCV000120139

NM_000051.4(ATM):c.4402G>A (p.Val1468Ile)

SNV
Germline

Chr11:108289767

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA157119

rs_369903995

14 SubmittersRCV000656760 RCV001249853 RCV003467026 RCV000115194 RCV000120138 RCV000199082

NM_000051.4(ATM):c.4414T>G (p.Leu1472Val)

SNV
Germline

Chr11:108289779

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Hereditary cancer
not specified
ATM-related disorder
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA286849

rs_539676759

17 SubmittersRCV000515407 RCV000588453 RCV001257473 RCV002225319 RCV003492458 RCV002509222 RCV004739392 RCV000115195 RCV000206408

NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)

SNV
Germline

Chr11:108289789

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Malignant tumor of breast
Breast and/or ovarian cancer
ATM-related disorder
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA286855

rs_34640941

27 SubmittersRCV000590782 RCV001250427 RCV001281009 RCV001355381 RCV001798316 RCV004549553 RCV000115197 RCV000122849 RCV000212017

NM_000051.4(ATM):c.4606A>G (p.Lys1536Glu)

SNV
Germline

Chr11:108292788

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
not specified
ATM-related disorder
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA286858

rs_587779841

10 SubmittersRCV000465699 RCV000679122 RCV003114258 RCV004549554 RCV004589566 RCV000115198

NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)

SNV
Germline

Chr11:108293410

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Malignant tumor of breast
Breast and/or ovarian cancer
ATM-related disorder
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA286861

rs_140856217

31 SubmittersRCV000586056 RCV001197709 RCV001354496 RCV001798317 RCV004549555 RCV000115199 RCV000122851 RCV000212021

NM_000051.4(ATM):c.5009C>T (p.Ala1670Val)

SNV
Germline

Chr11:108299717

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast
Condition: not provided
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA286867

rs_375131360

12 SubmittersRCV000561604 RCV001171473 RCV002490773 RCV003315637 RCV000115202 RCV000206394

NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)

SNV
Germline

Chr11:108299779

Conflicting classifications of pathogenicity

Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA157131

rs_1800059

31 SubmittersRCV000679127 RCV001354566 RCV001798318 RCV004589567 RCV000115204 RCV000119119 RCV000120143

NM_000051.4(ATM):c.5089A>G (p.Thr1697Ala)

SNV
Germline

Chr11:108299797

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
not specified
Malignant tumor of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
ATM-related disorder
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA286873

rs_142455912

12 SubmittersRCV000515379 RCV000779803 RCV001354115 RCV001798319 RCV002225320 RCV004549556 RCV004589568 RCV000115205 RCV000200336 RCV000212027

NM_000051.4(ATM):c.5185G>C (p.Val1729Leu)

SNV
Germline

Chr11:108301655

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
not specified
ATM-related disorder
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA286876

rs_3092907

21 SubmittersRCV000589866 RCV001262810 RCV002307394 RCV004739393 RCV000115206 RCV000204511

NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile)

SNV
Germline

Chr11:108301698

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA286882

rs_587779844

11 SubmittersRCV000220146 RCV003460805 RCV000115208 RCV000168297

NM_000051.4(ATM):c.5489T>C (p.Met1830Thr)

SNV
Germline

Chr11:108303022

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
not specified
Familial cancer of breast
ATM-related disorder
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA286894

rs_145812395

14 SubmittersRCV001281031 RCV001804843 RCV003460806 RCV004549558 RCV000115213 RCV000167908 RCV000212029

NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)

SNV
Germline

Chr11:108310218

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
not specified
Familial cancer of breast
Breast and/or ovarian cancer
ATM-related disorder
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA286904

rs_147187700

23 SubmittersRCV000223979 RCV000515219 RCV000780923 RCV001293033 RCV003149795 RCV004739394 RCV000115217 RCV000167876

NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)

SNV
Germline

Chr11:108310279

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
not specified
Breast carcinoma
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA286907

rs_56399311

15 SubmittersRCV000589184 RCV000763707 RCV001263508 RCV001799619 RCV003237337 RCV000115218 RCV000195828

NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)

SNV
Germline

Chr11:108312424

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Breast cancer, susceptibility to
Breast and/or ovarian cancer
Familial cancer of breast
ATM-related disorder
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA286910

rs_587779852

32 SubmittersRCV000515323 RCV001258122 RCV001270929 RCV001310112 RCV004549559 RCV000115219 RCV000205725 RCV000212035

NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)

SNV
Germline

Chr11:108312467

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Hereditary cancer
Hereditary breast ovarian cancer syndrome
ATM-related disorder
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA286913

rs_150757822

28 SubmittersRCV000515391 RCV000588284 RCV001358376 RCV003492461 RCV003492462 RCV003482132 RCV004549560 RCV004589569 RCV000115220 RCV000122863 RCV000212036

NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)

SNV
Germline

Chr11:108315883

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Malignant tumor of breast
Breast and/or ovarian cancer
Tip-toe gait
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA157150

rs_11212587

33 SubmittersRCV000513642 RCV001253480 RCV001356569 RCV001798320 RCV002225322 RCV002225321 RCV000115221 RCV000120151 RCV000122864

NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter)

SNV
Germline

Chr11:108316015

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA286916

rs_532480170

18 SubmittersRCV000235108 RCV001762221 RCV000115222 RCV000122867

NM_000051.4(ATM):c.6101G>A (p.Arg2034Gln)

SNV
Germline

Chr11:108316016

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA286919

rs_3218670

9 SubmittersRCV000212038 RCV000457673 RCV001358622 RCV002288590 RCV003320457 RCV000115223

NM_000051.4(ATM):c.610G>A (p.Gly204Arg)

SNV
Germline

Chr11:108244066

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
not specified
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast
ATM-related disorder
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA286922

rs_147915571

22 SubmittersRCV000235097 RCV000764935 RCV001193006 RCV001535620 RCV001798321 RCV003335103 RCV004549561 RCV000115224 RCV000122868

NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile)

SNV
Germline

Chr11:108316091

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer
Familial cancer of breast
ATM-related disorder
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA286928

rs_144761622

14 SubmittersRCV000212040 RCV000588663 RCV002225323 RCV003492463 RCV004589570 RCV004549562 RCV000115226 RCV000196722

NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp)

SNV
Germline

Chr11:108321391

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer
ATM-related disorder
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA286937

rs_138828590

14 SubmittersRCV000212044 RCV000587205 RCV002225324 RCV003492464 RCV004549564 RCV004589571 RCV000115230 RCV000196735

NM_000051.4(ATM):c.6572+1G>A

SNV
Germline

Chr11:108321421

Pathogenic/Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA286940

rs_587779856

5 SubmittersRCV000212046 RCV000410003 RCV004019607 RCV000115231

NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala)

SNV
Germline

Chr11:108326110

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer
not specified
ATM-related disorder
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA286944

rs_1800061

19 SubmittersRCV000588207 RCV000757936 RCV001798322 RCV002281932 RCV004549565 RCV000115233 RCV000168356

NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)

SNV
Germline

Chr11:108326169

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA157162

rs_56009889

28 SubmittersRCV000586678 RCV000988720 RCV001354648 RCV003492465 RCV000115235 RCV000120155

NM_000051.4(ATM):c.6974C>T (p.Ala2325Val)

SNV
Germline

Chr11:108326224

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA286950

rs_200940211

13 SubmittersRCV001375520 RCV002477275 RCV003460809 RCV000115236 RCV000122881 RCV000212052

NM_000051.4(ATM):c.6988C>G (p.Leu2330Val)

SNV
Germline

Chr11:108327657

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer
ATM-related disorder
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA286954

rs_148432863

20 SubmittersRCV000587802 RCV002225325 RCV003492466 RCV004549566 RCV004589572 RCV000115238 RCV000122882 RCV000212054

NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys)

SNV
Germline

Chr11:108327667

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
not specified
Hepatoblastoma
Breast and/or ovarian cancer
ATM-related disorder
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA286957

rs_150503164

12 SubmittersRCV000212056 RCV001079437 RCV001201251 RCV001843477 RCV003492467 RCV004549567 RCV004589573 RCV000115239

NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile)

SNV
Germline

Chr11:108327667

Conflicting classifications of pathogenicity

Condition: not provided
not specified
ATM-related disorder
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA286960

rs_150503164

10 SubmittersRCV000590099 RCV000855568 RCV004549568 RCV004589574 RCV000115240 RCV000206376

NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu)

SNV
Germline

Chr11:108329112

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA286966

rs_587779861

11 SubmittersRCV000494662 RCV000534806 RCV001171474 RCV002483185 RCV003467031 RCV000115242

NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)

SNV
Germline

Chr11:108329118

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Breast and/or ovarian cancer
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA286969

rs_370559102

18 SubmittersRCV000487700 RCV000855569 RCV001798324 RCV002291558 RCV000115243 RCV000198387

NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile)

SNV
Germline

Chr11:108330219

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided
not specified
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
ATM-related disorder
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA286975

rs_147604227

15 SubmittersRCV000515201 RCV000589408 RCV001260260 RCV001354272 RCV002225326 RCV004549569 RCV004589575 RCV000115246 RCV000200256

NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)

SNV
Germline

Chr11:108330296

Conflicting classifications of pathogenicity

Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
ATM-related disorder
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA249000

rs_55801750

23 SubmittersRCV000589438 RCV001356727 RCV001798325 RCV004549571 RCV004589576 RCV000115249 RCV000119204 RCV000202803

NM_000051.4(ATM):c.7450G>A (p.Val2484Ile)

SNV
Germline

Chr11:108330356

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA286984

rs_587779864

3 SubmittersRCV000565502 RCV002515793 RCV000115250

NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)

SNV
Germline

Chr11:108330362

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Abnormal central motor function
Familial cancer of breast
Gastric cancer
Inherited breast cancer and ovarian cancer
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA286987

rs_587779865

13 SubmittersRCV000462583 RCV001814060 RCV003467032 RCV003162535 RCV004782241 RCV000115251 RCV000212068

NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)

SNV
Germline

Chr11:108330381

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Familial cancer of breast
Astroblastoma, MN1-altered
ATM-related disorder
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA286990

rs_56399857

25 SubmittersRCV000488003 RCV000780920 RCV000786770 RCV003325459 RCV004739397 RCV000115252 RCV000195623

NM_000051.4(ATM):c.7630-2A>C

SNV
Germline

Chr11:108331877

Pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Breast and/or ovarian cancer
Familial cancer of breast
Tip-toe gait
Colorectal cancer
ATM-related disorder
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA286993

rs_587779866

27 SubmittersRCV000212074 RCV000515371 RCV001270954 RCV001253391 RCV003319320 RCV002463639 RCV004739398 RCV000115253 RCV000206201

NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser)

SNV
Germline

Chr11:108331989

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Ovarian cancer
ATM-related disorder
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA286994

rs_199915459

15 SubmittersRCV000589821 RCV000855570 RCV003153367 RCV004549572 RCV004589577 RCV000115254 RCV000205594

NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg)

SNV
Germline

Chr11:108332027

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
not specified
Hereditary cancer
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA286997

rs_587779867

13 SubmittersRCV000588147 RCV001257470 RCV002228249 RCV004700417 RCV000115255 RCV000197623

NM_000051.4(ATM):c.7788+8G>T

SNV
Germline

Chr11:108332045

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast
not specified
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA287000

rs_112775908

31 SubmittersRCV000579980 RCV000589845 RCV001357795 RCV001798326 RCV004589578 RCV000115256 RCV000119166

NM_000051.4(ATM):c.7928-10T>C

SNV
Germline

Chr11:108333876

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA287004

rs_188404773

13 SubmittersRCV000588523 RCV000776053 RCV001083708 RCV001357331 RCV004589579 RCV000115258

NM_000051.4(ATM):c.8113G>A (p.Val2705Ile)

SNV
Germline

Chr11:108335071

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA287006

rs_587779870

11 SubmittersRCV000234753 RCV000235110 RCV000779774 RCV003467033 RCV000115260

NM_000051.4(ATM):c.8113G>T (p.Val2705Leu)

SNV
Germline

Chr11:108335071

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA287009

rs_587779870

6 SubmittersRCV000212078 RCV000464258 RCV004566997 RCV000115261

NM_000051.4(ATM):c.8156G>A (p.Arg2719His)

SNV
Germline

Chr11:108335849

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast
Breast and/or ovarian cancer
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA287012

rs_55982963

26 SubmittersRCV000232453 RCV000586113 RCV000764949 RCV001257471 RCV001798327 RCV001818260 RCV000115262

NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)

SNV
Germline

Chr11:108345818

Likely pathogenic

Familial cancer of breast
Abnormal central motor function
Gastric cancer
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Reviewed By Expert Panel

CA287019

rs_587779872

26 SubmittersRCV001197256 RCV001814061 RCV003162536 RCV000115265 RCV000169354 RCV000212084

NM_000051.4(ATM):c.8786+1G>A

SNV
Germline

Chr11:108353881

Pathogenic

Hereditary cancer-predisposing syndrome
Malignant glioma
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast
Condition: not provided
Ataxia-telangiectasia syndrome

Reviewed By Expert Panel

CA274150

rs_17174393

17 SubmittersRCV000220586 RCV000761159 RCV000763226 RCV003467035 RCV000115269 RCV000169303

NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys)

SNV
Germline

Chr11:108365199

Conflicting classifications of pathogenicity

Condition: not provided
Malignant tumor of breast
not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA287036

rs_1800558

12 SubmittersRCV000212095 RCV001358118 RCV002271407 RCV003330438 RCV003467036 RCV000115272 RCV000200530

NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)

SNV
Germline

Chr11:108365423

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast and/or ovarian cancer
ATM-related disorder
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA287042

rs_201199629

25 SubmittersRCV000780893 RCV001535462 RCV001374551 RCV002288591 RCV003492468 RCV004549574 RCV000115274 RCV000198158 RCV000212098

NM_000051.4(ATM):c.998C>T (p.Ser333Phe)

SNV
Germline

Chr11:108247060

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA157204

rs_28904919

29 SubmittersRCV000586032 RCV000988648 RCV001262803 RCV001798328 RCV002225327 RCV000115277 RCV000120169

NM_000051.4(ATM):c.162T>C (p.Tyr54=)

SNV
Germline

Chr11:108227865

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA289553

rs_3218690

31 SubmittersRCV000119217 RCV000123737 RCV000211941 RCV000415913 RCV001262812 RCV001798375 RCV002225353

NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)

SNV
Germline

Chr11:108251060

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast
Hepatoblastoma
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA157062

rs_35963548

19 SubmittersRCV000120116 RCV000122821 RCV000129230 RCV000515290 RCV000589072 RCV001355212 RCV001798377 RCV002243780 RCV001843478 RCV004739411

NM_000051.4(ATM):c.2449G>C (p.Asp817His)

SNV
Germline

Chr11:108259058

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Endometrial carcinoma
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA157079

rs_587778067

13 SubmittersRCV000120124 RCV000168026 RCV000159695 RCV000656758 RCV001250428 RCV001356154 RCV004551177

NM_000051.4(ATM):c.2873A>G (p.Glu958Gly)

SNV
Germline

Chr11:108271098

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA157089

rs_587778069

10 SubmittersRCV000120128 RCV000159703 RCV000528438 RCV000766496 RCV001355117

NM_000051.4(ATM):c.3630G>A (p.Met1210Ile)

SNV
Germline

Chr11:108282763

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA157107

rs_587778073

13 SubmittersRCV000120134 RCV000131218 RCV000476722 RCV000657063 RCV004567038

NM_000051.4(ATM):c.3963G>A (p.Met1321Ile)

SNV
Germline

Chr11:108284443

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA157113

rs_35184530

13 SubmittersRCV000120136 RCV000129195 RCV000657024 RCV001079506 RCV001355120 RCV003492517 RCV004551178

NM_000051.4(ATM):c.4658A>C (p.Glu1553Ala)

SNV
Germline

Chr11:108293359

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA157122

rs_587778075

11 SubmittersRCV000120140 RCV000166074 RCV000200014 RCV000656761 RCV003467069

NM_000051.4(ATM):c.4779A>G (p.Glu1593=)

SNV
Germline

Chr11:108294929

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA157125

rs_587778076

8 SubmittersRCV000120141 RCV000164622 RCV000841327 RCV001085126 RCV004589587

NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)

SNV
Germline

Chr11:108304736

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Malignant tumor of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA157135

rs_1801673

35 SubmittersRCV000120145 RCV000122859 RCV000128902 RCV000513231 RCV001262813 RCV001358294 RCV001798378 RCV002225361 RCV003224156

NM_000051.4(ATM):c.275A>C (p.Lys92Thr)

SNV
Germline

Chr11:108229267

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA157141

rs_200151849

11 SubmittersRCV000120147 RCV000165208 RCV000205193 RCV000656755 RCV000764932 RCV003460845

NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr)

SNV
Germline

Chr11:108320043

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA157159

rs_56815840

23 SubmittersRCV000120154 RCV000131611 RCV000710676 RCV001080465 RCV002225364 RCV003315729 RCV003149825

NM_000051.4(ATM):c.400G>A (p.Gly134Ser)

SNV
Germline

Chr11:108235738

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA157168

rs_2234998

8 SubmittersRCV000120157 RCV000476735 RCV000571088 RCV000764934 RCV003467070

NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser)

SNV
Germline

Chr11:108332006

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA157171

rs_587778079

11 SubmittersRCV000120158 RCV000465515 RCV000561937 RCV000587034

NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile)

SNV
Germline

Chr11:108332892

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Malignant tumor of breast
Familial cancer of breast
Tip-toe gait

Criteria Provided
Conflicting Classifications

CA157174

rs_4988125

21 SubmittersRCV000120159 RCV000130402 RCV000168144 RCV000586791 RCV001355591 RCV003325183 RCV004724814

NM_000051.4(ATM):c.7988T>C (p.Val2663Ala)

SNV
Germline

Chr11:108333946

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA157177

rs_377648506

13 SubmittersRCV000120160 RCV000231221 RCV000214426 RCV000656763 RCV002225366 RCV003315730 RCV004551180

NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter)

SNV
Germline

Chr11:108345869

Pathogenic

not specified
Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Breast cancer, susceptibility to
Tip-toe gait
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA157183

rs_587778080

13 SubmittersRCV000120162 RCV000407552 RCV000478987 RCV000566641 RCV001258124 RCV001352893 RCV003460846

NM_000051.4(ATM):c.8495G>A (p.Arg2832His)

SNV
Germline

Chr11:108345819

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Breast and/or ovarian cancer
Familial cancer of breast
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA157186

rs_529296539

18 SubmittersRCV000120163 RCV000159755 RCV000462707 RCV000656764 RCV000764951 RCV001798380 RCV003153383 RCV003153384

NM_000051.4(ATM):c.649A>G (p.Ile217Val)

SNV
Germline

Chr11:108244105

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Hereditary cancer
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA157189

rs_547045780

18 SubmittersRCV000120164 RCV000217843 RCV000472458 RCV000657028 RCV003467071 RCV004700427 RCV004551181

NM_000051.4(ATM):c.659C>T (p.Ala220Val)

SNV
Germline

Chr11:108244115

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA157192

rs_145355104

16 SubmittersRCV000120165 RCV000159677 RCV000527646 RCV000513410 RCV000764936 RCV001030516 RCV001253154

NM_000051.4(ATM):c.1021G>A (p.Val341Ile)

SNV
Germline

Chr11:108247083

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA157207

rs_200601781

13 SubmittersRCV000120170 RCV000167222 RCV000234064 RCV000657017 RCV002288608 RCV003492519 RCV004739412

NM_000051.4(ATM):c.1272T>C (p.Pro424=)

SNV
Germline

Chr11:108250737

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA297982

rs_35578748

22 SubmittersRCV000122817 RCV000159603 RCV000211959 RCV000588662 RCV001355372 RCV001798388 RCV004589593

NM_000051.4(ATM):c.1960C>A (p.Gln654Lys)

SNV
Germline

Chr11:108253875

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial pancreatic carcinoma
Breast and/or ovarian cancer
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA192475

rs_528165789

13 SubmittersRCV000122828 RCV000165083 RCV000254742 RCV001354480 RCV003492531 RCV003320097 RCV003467083

NM_000051.4(ATM):c.1986T>C (p.Phe662=)

SNV
Germline

Chr11:108253901

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA289538

rs_1800055

26 SubmittersRCV000122829 RCV000123724 RCV000211971 RCV000586136 RCV001356414 RCV001798389 RCV003315804 RCV004764767

NM_000051.4(ATM):c.2281A>T (p.Thr761Ser)

SNV
Germline

Chr11:108257511

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA294031

rs_2235011

11 SubmittersRCV000122833 RCV000129351 RCV000586568 RCV002223130 RCV004551196 RCV004589597

NM_000051.4(ATM):c.2805G>C (p.Thr935=)

SNV
Germline

Chr11:108268576

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA289548

rs_55934812

21 SubmittersRCV000122836 RCV000123732 RCV000211989 RCV000586912 RCV001357062 RCV003149832 RCV003315805

NM_000051.4(ATM):c.3150T>C (p.Leu1050=)

SNV
Germline

Chr11:108272604

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast
Breast and/or ovarian cancer
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA186610

rs_3092859

16 SubmittersRCV000122839 RCV000162639 RCV000679110 RCV001358528 RCV001798391 RCV001640111 RCV003315806

NM_000051.4(ATM):c.3300G>A (p.Thr1100=)

SNV
Germline

Chr11:108279506

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA186446

rs_587780621

10 SubmittersRCV000122841 RCV000162548 RCV000779771 RCV001356792 RCV001657770 RCV004589599

NM_000051.4(ATM):c.3342G>A (p.Lys1114=)

SNV
Germline

Chr11:108279548

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA289556

rs_138393322

17 SubmittersRCV000123738 RCV000211997 RCV000586815 RCV000988672 RCV001356781 RCV001798392 RCV003315807

NM_000051.4(ATM):c.4473C>T (p.Phe1491=)

SNV
Germline

Chr11:108292655

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA289569

rs_4988008

29 SubmittersRCV000122850 RCV000123748 RCV000212018 RCV000587530 RCV001354679 RCV002225390 RCV001798393 RCV004589602

NM_000051.4(ATM):c.482A>C (p.Gln161Pro)

SNV
Germline

Chr11:108235820

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA332336

rs_587780625

5 SubmittersRCV000122853 RCV000219862 RCV000436828 RCV004998245

NM_000051.4(ATM):c.4871A>G (p.His1624Arg)

SNV
Germline

Chr11:108295021

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA294028

rs_56354559

10 SubmittersRCV000122854 RCV000129349 RCV000587947 RCV002223131 RCV004551198 RCV004589603

NM_000051.4(ATM):c.574C>G (p.His192Asp)

SNV
Germline

Chr11:108244030

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA332342

rs_587780629

3 SubmittersRCV000122861 RCV000563677

NM_000051.4(ATM):c.591A>T (p.Gly197=)

SNV
Germline

Chr11:108244047

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA192923

rs_587780630

9 SubmittersRCV000122862 RCV000165264 RCV000254428 RCV001356581 RCV001682838 RCV003315808

NM_000051.4(ATM):c.609C>T (p.Asp203=)

SNV
Germline

Chr11:108244065

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA289529

rs_144709948

21 SubmittersRCV000123719 RCV000122866 RCV000211950 RCV000679133 RCV001798396 RCV003315809

NM_000051.4(ATM):c.6179G>A (p.Arg2060His)

SNV
Germline

Chr11:108316094

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA294446

rs_376521407

5 SubmittersRCV000122869 RCV000131768 RCV000212041 RCV000779793

NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser)

SNV
Germline

Chr11:108317489

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
not specified
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA167882

rs_587780632

14 SubmittersRCV000122871 RCV000131258 RCV000589612 RCV001356310 RCV001293417 RCV003467085 RCV004551200

NM_000051.4(ATM):c.6343G>A (p.Val2115Ile)

SNV
Germline

Chr11:108317517

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA168504

rs_587780634

17 SubmittersRCV000122874 RCV000131631 RCV000237090 RCV001269134 RCV001798397 RCV002483232 RCV002288612 RCV003483488

NM_000051.4(ATM):c.6572+4T>C

SNV
Germline

Chr11:108321424

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA289576

rs_587780636

10 SubmittersRCV000122876 RCV000123756 RCV000417368 RCV000679137 RCV004589606

NM_000051.4(ATM):c.6795C>T (p.Phe2265=)

SNV
Germline

Chr11:108325532

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA289516

rs_3218699

17 SubmittersRCV000122878 RCV000123710 RCV000212049 RCV000679140 RCV001356930 RCV003149833 RCV004589608

NM_000051.4(ATM):c.6807G>A (p.Gln2269=)

SNV
Germline

Chr11:108325544

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast

Reviewed By Expert Panel

CA332354

rs_587780638

8 SubmittersRCV000122879 RCV000213885 RCV001288455 RCV001798398 RCV003985275

NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr)

SNV
Germline

Chr11:108326070

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Tip-toe gait
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA298037

rs_567060474

15 SubmittersRCV000122880 RCV000159644 RCV000588200 RCV001250436 RCV001824286 RCV004760385 RCV004562279

NM_000051.4(ATM):c.7788G>A (p.Glu2596=)

SNV
Germline

Chr11:108332037

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA298062

rs_587780639

13 SubmittersRCV000122884 RCV000159654 RCV000217179 RCV001255554 RCV002505072 RCV003155919

NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)

SNV
Germline

Chr11:108335959

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial ovarian cancer
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome
Breast and/or ovarian cancer
ATM-related cancer predisposition
ATM-related disorder

Reviewed By Expert Panel

CA293899

rs_371638537

20 SubmittersRCV000122886 RCV000128904 RCV000212082 RCV001356913 RCV002272133 RCV002483233 RCV003492532 RCV005001002 RCV004739421

NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu)

SNV
Germline

Chr11:108365152

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA185963

rs_139379666

17 SubmittersRCV000122894 RCV000159668 RCV000200970 RCV000780903 RCV001030606 RCV001356215 RCV001798400 RCV004739423

NM_000051.4(ATM):c.7044G>A (p.Thr2348=)

SNV
Germline

Chr11:108327713

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA289519

rs_140104789

13 SubmittersRCV000123712 RCV000196795 RCV000212057 RCV003315830 RCV004546434 RCV003492555

NM_000051.4(ATM):c.8671+9T>G

SNV
Germline

Chr11:108347374

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA289528

rs_200190537

12 SubmittersRCV000123717 RCV000448274 RCV000589757 RCV000988738 RCV002288615

NM_000051.4(ATM):c.1773T>C (p.Asn591=)

SNV
Germline

Chr11:108252002

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Ataxia-telangiectasia syndrome
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA289535

rs_61734356

19 SubmittersRCV000123723 RCV000196069 RCV000211968 RCV001085839 RCV001798412 RCV004589614

NM_000051.4(ATM):c.3577-13T>C

SNV
Germline

Chr11:108282697

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA289564

rs_587780856

7 SubmittersRCV000123743 RCV000343406 RCV000580674 RCV001795221 RCV004589617

NM_000051.4(ATM):c.5497-15G>C

SNV
Germline

Chr11:108304660

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA289575

rs_3092828

21 SubmittersRCV000123750 RCV000447093 RCV001103816 RCV001358583 RCV001689673 RCV002225399 RCV003149850 RCV003315838

NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly)

SNV
Germline

Chr11:108315863

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Breast carcinoma
Abnormal central motor function
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA163663

rs_587781302

8 SubmittersRCV000129013 RCV000449587 RCV001090516 RCV001657792 RCV001814064 RCV003155920

NM_000051.4(ATM):c.133C>T (p.Arg45Trp)

SNV
Germline

Chr11:108227836

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA163682

rs_3218684

10 SubmittersRCV000129025 RCV000199094 RCV000219679 RCV001199867 RCV002498640 RCV003315869

NM_000051.4(ATM):c.4666T>C (p.Tyr1556His)

SNV
Germline

Chr11:108293367

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA163737

rs_587781320

10 SubmittersRCV000129059 RCV000530097 RCV000587733 RCV004567076

NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)

SNV
Germline

Chr11:108267198

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast
ATM-related disorder
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA293954

rs_2229022

19 SubmittersRCV000129082 RCV000211982 RCV000199664 RCV000587618 RCV003492583 RCV004589620 RCV004551237 RCV004700436

NM_000051.4(ATM):c.2149C>T (p.Arg717Trp)

SNV
Germline

Chr11:108256239

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA163812

rs_147515380

18 SubmittersRCV000129107 RCV000457240 RCV000586332 RCV001030521 RCV002228638 RCV003237338

NM_000051.4(ATM):c.7358G>A (p.Arg2453His)

SNV
Germline

Chr11:108330264

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA293982

rs_587781361

7 SubmittersRCV000129153 RCV000212065 RCV000233904

NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter)

SNV
Germline

Chr11:108345797

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA163889

rs_587781363

9 SubmittersRCV000129156 RCV000523615 RCV000549950 RCV003467103

NM_000051.4(ATM):c.7592T>C (p.Met2531Thr)

SNV
Germline

Chr11:108331520

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA293988

rs_587781365

14 SubmittersRCV000129166 RCV000195721 RCV000656762 RCV001192416 RCV003460890 RCV004551240

NM_000051.4(ATM):c.749G>A (p.Arg250Gln)

SNV
Germline

Chr11:108244874

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast
Breast and/or ovarian cancer
Condition: not provided
Hereditary breast ovarian cancer syndrome
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA293997

rs_56123940

17 SubmittersRCV000129173 RCV000211952 RCV000204231 RCV001257469 RCV001798434 RCV001704053 RCV002225424 RCV003492586

NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)

SNV
Germline

Chr11:108251932

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
not specified
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA294000

rs_200381392

19 SubmittersRCV000129176 RCV000195658 RCV000416037 RCV000515396 RCV000855571 RCV001357003 RCV004589621

NM_000051.4(ATM):c.496+4T>C

SNV
Germline

Chr11:108235838

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Condition: not provided
Malignant tumor of breast
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA294004

rs_587781375

18 SubmittersRCV000129193 RCV000211949 RCV000474202 RCV000585055 RCV001357828 RCV004551241 RCV004589622

NM_000051.4(ATM):c.3628A>G (p.Met1210Val)

SNV
Germline

Chr11:108282761

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
ATM-related disorder
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA164516

rs_138212452

11 SubmittersRCV000129482 RCV000482081 RCV000529913 RCV004739430 RCV001193060 RCV003467109

NM_000051.4(ATM):c.967A>G (p.Ile323Val)

SNV
Germline

Chr11:108247029

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA164527

rs_587781511

8 SubmittersRCV000129488 RCV000675169 RCV002483260 RCV000486107 RCV004019731

NM_000051.4(ATM):c.6739A>G (p.Ile2247Val)

SNV
Germline

Chr11:108325476

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA164564

rs_587781521

8 SubmittersRCV000129510 RCV000196259 RCV002262749 RCV003460894

NM_000051.4(ATM):c.283C>T (p.Gln95Ter)

SNV
Germline

Chr11:108229275

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA164660

rs_587781545

7 SubmittersRCV000129559 RCV001194302 RCV001857440 RCV002492495

NM_000051.4(ATM):c.2921+1G>A

SNV
Germline/somatic

Chr11:108271147

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
not specified
Neoplasm
ATM-related disorder
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Endometrial carcinoma
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA164701

rs_587781558

25 SubmittersRCV000129576 RCV000507017 RCV004668790 RCV004739431 RCV000169059 RCV000215085 RCV000762820 RCV003128149 RCV003467112

NM_000051.4(ATM):c.2021A>G (p.His674Arg)

SNV
Germline

Chr11:108253936

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer
Familial cancer of breast
ATM-related disorder
Ataxia-telangiectasia syndrome
Bilateral breast carcinoma
not specified

Criteria Provided
Conflicting Classifications

CA164702

rs_201762714

21 SubmittersRCV000129577 RCV000515195 RCV000236547 RCV001356825 RCV003492590 RCV004589624 RCV004551243 RCV000168255 RCV000181010 RCV000780908

NM_000051.4(ATM):c.2377A>G (p.Lys793Glu)

SNV
Germline

Chr11:108258986

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA164793

rs_587781583

6 SubmittersRCV000129623 RCV003467114 RCV000227337 RCV003323408

NM_000051.4(ATM):c.6095+1G>A

SNV
Germline

Chr11:108315912

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA164796

rs_587781584

7 SubmittersRCV000129624 RCV000780909 RCV003114280 RCV003467115

NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter)

SNV
Germline

Chr11:108332886

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
See cases
ATM-related disorder
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA294097

rs_377349459

17 SubmittersRCV000129649 RCV000169621 RCV000212077 RCV002251994 RCV004739433 RCV000768151 RCV003460899

NM_000051.4(ATM):c.8505C>A (p.Cys2835Ter)

SNV
Germline

Chr11:108345829

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA164890

rs_587781597

8 SubmittersRCV000129661 RCV000557950 RCV003467116 RCV004998263

NM_000051.4(ATM):c.1888G>A (p.Val630Met)

SNV
Germline

Chr11:108252902

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
not specified
Familial cancer of breast
Ataxia-telangiectasia syndrome
ATM-related disorder
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA164912

rs_148191382

15 SubmittersRCV000129681 RCV000590311 RCV001356176 RCV001731482 RCV004589625 RCV001079129 RCV004551246 RCV003149894

NM_000051.4(ATM):c.5488A>G (p.Met1830Val)

SNV
Germline

Chr11:108303021

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided
Familial pancreatic carcinoma
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA164960

rs_587781622

11 SubmittersRCV000199250 RCV000129712 RCV001030597 RCV002307401 RCV000590655 RCV001357265 RCV004551247

NM_000051.4(ATM):c.3154-5C>T

SNV
Germline

Chr11:108272717

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA165018

rs_55719759

9 SubmittersRCV000129749 RCV000462650 RCV001311785 RCV004589627 RCV000779795

NM_000051.4(ATM):c.2131A>G (p.Asn711Asp)

SNV
Germline

Chr11:108256221

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA165093

rs_587781654

4 SubmittersRCV000129789 RCV000688954 RCV004700439

NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)

SNV
Germline

Chr11:108329027

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA165161

rs_587781672

8 SubmittersRCV000169152 RCV000129830 RCV003128614 RCV002467440

NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter)

SNV
Germline

Chr11:108365335

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA165254

rs_587781698

5 SubmittersRCV000129865 RCV004019733 RCV000576680

NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter)

SNV
Germline

Chr11:108310305

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Breast cancer, susceptibility to
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA165332

rs_587781722

15 SubmittersRCV000129909 RCV000235704 RCV001258121 RCV003460905 RCV000200350 RCV000762823

NM_000051.4(ATM):c.3993+1G>A

SNV
Germline

Chr11:108284474

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA165426

rs_200196781

10 SubmittersRCV000438634 RCV000129961 RCV003155921 RCV000228950

NM_000051.4(ATM):c.3831G>C (p.Glu1277Asp)

SNV
Germline

Chr11:108284311

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA165593

rs_587781787

4 SubmittersRCV000130042 RCV000442870 RCV000700863

NM_000051.4(ATM):c.2531G>A (p.Gly844Glu)

SNV
Germline

Chr11:108267235

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
ATM-related disorder
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA294150

rs_587781808

10 SubmittersRCV000130079 RCV000211983 RCV002288634 RCV004551252 RCV000168121 RCV003226209

NM_000051.4(ATM):c.2522A>G (p.Asp841Gly)

SNV
Germline

Chr11:108267226

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA165667

rs_587781812

3 SubmittersRCV000130083 RCV000458854

NM_000051.4(ATM):c.7294A>T (p.Ile2432Phe)

SNV
Germline

Chr11:108329225

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA165771

rs_587781838

3 SubmittersRCV000130133 RCV000687430 RCV003441751

NM_000051.4(ATM):c.7999A>G (p.Met2667Val)

SNV
Germline

Chr11:108333957

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA165779

rs_34099398

11 SubmittersRCV000474473 RCV000130136 RCV000416016 RCV001798440 RCV004739439 RCV002288635

NM_000051.4(ATM):c.1379C>T (p.Thr460Met)

SNV
Germline

Chr11:108250844

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA165785

rs_587781841

8 SubmittersRCV000130139 RCV000478287 RCV000466948 RCV001196781 RCV004595932

NM_000051.4(ATM):c.7618G>A (p.Val2540Ile)

SNV
Germline

Chr11:108331546

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Breast and/or ovarian cancer
Familial cancer of breast
ATM-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA165843

rs_35203200

19 SubmittersRCV000236319 RCV000130162 RCV000167957 RCV001798442 RCV003474759 RCV004739440 RCV000779778

NM_000051.4(ATM):c.9023G>A (p.Arg3008His)

SNV
Germline

Chr11:108365360

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Malignant tumor of breast
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA165987

rs_587781894

13 SubmittersRCV000196159 RCV000130230 RCV000254719 RCV003467134 RCV002281955 RCV003162582

NM_000051.4(ATM):c.2495G>A (p.Arg832His)

SNV
Germline

Chr11:108267199

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA166023

rs_199875915

8 SubmittersRCV000483469 RCV000130241 RCV004760391 RCV000168264 RCV001174859

NM_000051.4(ATM):c.3388G>T (p.Gly1130Ter)

SNV
Germline

Chr11:108279594

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA166048

rs_587781911

5 SubmittersRCV000130253 RCV004019737 RCV001223207

NM_000051.4(ATM):c.4776+2T>C

SNV
Germline

Chr11:108293479

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA249436

rs_587781927

13 SubmittersRCV000003170 RCV000235350 RCV000130284 RCV003467137

NM_000051.4(ATM):c.6975G>A (p.Ala2325=)

SNV
Germline

Chr11:108326225

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
ATM-related disorder
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA166105

rs_556778314

11 SubmittersRCV000130288 RCV004739442 RCV000679141 RCV002243794 RCV000196388 RCV002469019

NM_000051.4(ATM):c.251C>T (p.Ala84Val)

SNV
Germline

Chr11:108229243

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA166128

rs_587781937

6 SubmittersRCV000130300 RCV002251433 RCV003230414 RCV000466004

NM_000051.4(ATM):c.4198A>T (p.Lys1400Ter)

SNV
Germline

Chr11:108289065

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA166177

rs_587781950

7 SubmittersRCV000130320 RCV000204266 RCV000483525 RCV003460920

NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter)

SNV
Germline

Chr11:108335878

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA166241

rs_587781967

8 SubmittersRCV000410300 RCV000130347 RCV003467141 RCV000657613

NM_000051.4(ATM):c.8124T>A (p.Asp2708Glu)

SNV
Germline

Chr11:108335082

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA166315

rs_587781990

2 SubmittersRCV000130392 RCV001044776

NM_000051.4(ATM):c.2836A>G (p.Met946Val)

SNV
Germline

Chr11:108268607

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
ATM-related disorder
Familial cancer of breast
Ataxia-telangiectasia syndrome
Breast and/or ovarian cancer
Carcinoma of colon
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA166340

rs_587781992

13 SubmittersRCV000130397 RCV000168097 RCV000485729 RCV004739444 RCV000515251 RCV003492600 RCV001356743 RCV003467147 RCV000779792

NM_000051.4(ATM):c.7951C>T (p.Gln2651Ter)

SNV
Germline

Chr11:108333909

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA166363

rs_587781994

4 SubmittersRCV000130403 RCV004019739 RCV000411562

NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr)

SNV
Germline

Chr11:108289644

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA166697

rs_2229021

14 SubmittersRCV000467455 RCV000130581 RCV000222514 RCV002225432 RCV002307403 RCV001257474

NM_000051.4(ATM):c.3077G>A (p.Trp1026Ter)

SNV
Germline

Chr11:108271406

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA166759

rs_587782103

3 SubmittersRCV000130616 RCV000798032 RCV003467149

NM_000051.4(ATM):c.6326G>A (p.Trp2109Ter)

SNV
Germline

Chr11:108317500

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA166794

rs_587782114

6 SubmittersRCV000130633 RCV001857452 RCV002492505 RCV000521744 RCV003467150

NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr)

SNV
Germline

Chr11:108299771

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Breast and/or ovarian cancer
not specified
Malignant tumor of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA166824

rs_199836342

10 SubmittersRCV000130648 RCV000538544 RCV000484463 RCV003149900 RCV001194272 RCV001535791

NM_000051.4(ATM):c.1898+2T>G

SNV
Germline

Chr11:108252914

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA166848

rs_587782124

14 SubmittersRCV000130662 RCV000235311 RCV000461282 RCV003322598

NM_000051.4(ATM):c.4909+4C>T

SNV
Germline

Chr11:108295063

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA166849

rs_587782125

6 SubmittersRCV000460771 RCV000130663 RCV003467151

NM_000051.4(ATM):c.2354G>A (p.Arg785His)

SNV
Germline

Chr11:108257584

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA166861

rs_587782128

10 SubmittersRCV000130667 RCV000167917 RCV000482225 RCV002298480 RCV003153421

NM_000051.4(ATM):c.2005T>C (p.Cys669Arg)

SNV
Germline

Chr11:108253920

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA166922

rs_587782141

6 SubmittersRCV000549496 RCV000130699 RCV000485416 RCV004764769

NM_000051.4(ATM):c.5039C>T (p.Pro1680Leu)

SNV
Germline

Chr11:108299747

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA166999

rs_587782153

9 SubmittersRCV000130731 RCV000205355 RCV000481018 RCV003461998

NM_000051.4(ATM):c.3980T>G (p.Leu1327Ter)

SNV
Germline

Chr11:108284460

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA167215

rs_587782192

5 SubmittersRCV000130840 RCV000463924 RCV003462002

NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser)

SNV
Germline

Chr11:108282822

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Familial cancer of breast
Condition: not provided
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA294243

rs_587782195

15 SubmittersRCV000130847 RCV001357259 RCV003474771 RCV000587182 RCV000200096 RCV003321515

NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser)

SNV
Germline

Chr11:108272810

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer
Familial cancer of breast
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA294246

rs_368111672

10 SubmittersRCV000475427 RCV000588298 RCV000130850 RCV001731389 RCV003149903 RCV000515162 RCV001354773 RCV004589629

NM_000051.4(ATM):c.8546G>A (p.Arg2849Gln)

SNV
Germline

Chr11:108345870

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA167269

rs_587782202

5 SubmittersRCV000482134 RCV000130863 RCV000627888 RCV004527323

NM_000051.4(ATM):c.2921+1G>T

SNV
Germline

Chr11:108271147

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Malignant tumor of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA167275

rs_587781558

11 SubmittersRCV000130866 RCV000233536 RCV001571421 RCV003462003 RCV003330505

NM_000051.4(ATM):c.5645G>A (p.Arg1882Gln)

SNV
Germline

Chr11:108304823

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA167411

rs_587782236

8 SubmittersRCV000130937 RCV000530461 RCV001260302 RCV003314563 RCV003467161

NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)

SNV
Germline

Chr11:108310287

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
not specified
Malignant tumor of breast
Condition: not provided
Hereditary breast ovarian cancer syndrome
Familial cancer of breast
Breast and/or ovarian cancer
Endometrial carcinoma
Hereditary cancer
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA294264

rs_201963507

19 SubmittersRCV000130965 RCV000515322 RCV000197688 RCV000212034 RCV001269498 RCV003390822 RCV003483502 RCV002288644 RCV003492610 RCV001357333 RCV003492611 RCV004551259

NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)

SNV
Germline/somatic

Chr11:108345884

Conflicting classifications of pathogenicity

Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Astrocytoma IDH-mutant
Carcinoma of colon
Papillary thyroid carcinoma
Breast and/or ovarian cancer
Familial cancer of breast
Ataxia-telangiectasia syndrome
ATM-related disorder
Neoplasm

Criteria Provided
Conflicting Classifications

CA246481

rs_201958469

26 SubmittersRCV000585658 RCV000656765 RCV000131002 RCV000199741 RCV000779783 RCV004776277 RCV001354297 RCV001357714 RCV001798447 RCV003483503 RCV004551260 RCV004668795

NM_000051.4(ATM):c.3016A>G (p.Met1006Val)

SNV
Germline

Chr11:108271345

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA167648

rs_139893395

9 SubmittersRCV000131127 RCV000205686 RCV000585220 RCV001328457

NM_000051.4(ATM):c.5973A>C (p.Glu1991Asp)

SNV
Germline

Chr11:108312465

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA167651

rs_587782274

5 SubmittersRCV000484990 RCV000131129 RCV001035231

NM_000051.4(ATM):c.3994-2A>G

SNV
Germline

Chr11:108287598

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA167657

rs_587782276

9 SubmittersRCV000131133 RCV000198837 RCV001580458 RCV003155922

NM_000051.4(ATM):c.2548G>T (p.Glu850Ter)

SNV
Germline

Chr11:108267252

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA167666

rs_587782280

2 SubmittersRCV000131140 RCV001849939

NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)

SNV
Germline

Chr11:108365359

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
ATM-related cancer predisposition
Familial cancer of breast
Gastric cancer

Reviewed By Expert Panel

CA294307

rs_587782292

18 SubmittersRCV000131173 RCV000212096 RCV000169274 RCV005001006 RCV003474775 RCV003162585

NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter)

SNV
Germline

Chr11:108289735

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA167716

rs_373226793

7 SubmittersRCV000131174 RCV000411522 RCV003467163 RCV001560591

NM_000051.4(ATM):c.7328G>A (p.Arg2443Gln)

SNV
Germline

Chr11:108330234

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA167770

rs_587782310

9 SubmittersRCV000131203 RCV000230833 RCV000236663 RCV003462010 RCV004551261

NM_000051.4(ATM):c.1855A>C (p.Asn619His)

SNV
Germline

Chr11:108252869

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA167802

rs_140882609

12 SubmittersRCV000131223 RCV000203692 RCV000587634 RCV001530924 RCV003467169 RCV004551262

NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg)

SNV
Germline

Chr11:108284399

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
not specified
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA167867

rs_568451087

10 SubmittersRCV000131248 RCV001356054 RCV001704057 RCV004589630 RCV000234723 RCV000608362 RCV002225443 RCV001798449

NM_000051.4(ATM):c.8558C>T (p.Thr2853Met)

SNV
Germline/somatic

Chr11:108345882

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related disorder
Neoplasm

Criteria Provided
Conflicting Classifications

CA294334

rs_141534716

16 SubmittersRCV000131262 RCV000589725 RCV001356460 RCV000203831 RCV002265616 RCV002483265 RCV003474776 RCV004739452 RCV004668797

NM_000051.4(ATM):c.8850+4A>C

SNV
Germline

Chr11:108354878

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA294337

rs_587782335

6 SubmittersRCV000131263 RCV000227772 RCV000212091 RCV003493456

NM_000051.4(ATM):c.3154-4G>A

SNV
Germline

Chr11:108272718

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast
Ataxia-telangiectasia syndrome
Breast and/or ovarian cancer
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA294338

rs_199543313

17 SubmittersRCV000131267 RCV000211993 RCV001358310 RCV001079697 RCV003149907 RCV003315904 RCV002292436

NM_000051.4(ATM):c.2476A>C (p.Ile826Leu)

SNV
Germline

Chr11:108267180

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA168126

rs_587782397

13 SubmittersRCV000131419 RCV000484154 RCV000168043 RCV001762310 RCV000779790

NM_000051.4(ATM):c.1110C>G (p.Tyr370Ter)

SNV
Germline

Chr11:108248977

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA168151

rs_376170600

10 SubmittersRCV000236856 RCV000131436 RCV000228285 RCV003467175

NM_000051.4(ATM):c.6976-2A>C

SNV
Germline

Chr11:108327643

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related cancer predisposition

Reviewed By Expert Panel

CA294376

rs_587782403

9 SubmittersRCV000131437 RCV000212053 RCV000228133 RCV001171406 RCV005001007

NM_000051.4(ATM):c.1685A>G (p.Asn562Ser)

SNV
Germline

Chr11:108251914

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA168162

rs_368209025

6 SubmittersRCV000131441 RCV000233331 RCV000235239

NM_000051.4(ATM):c.8353G>A (p.Asp2785Asn)

SNV
Germline

Chr11:108343306

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA168194

rs_587782417

7 SubmittersRCV000131464 RCV000198515 RCV004567136 RCV000479519 RCV002469022

NM_000051.4(ATM):c.7630-3C>G

SNV
Germline

Chr11:108331876

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA168292

rs_587782448

4 SubmittersRCV000131518 RCV000538287 RCV001566258

NM_000051.4(ATM):c.1464G>T (p.Trp488Cys)

SNV
Germline

Chr11:108250929

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
ATM-related disorder
Familial cancer of breast
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA294394

rs_377597949

14 SubmittersRCV000235099 RCV000131552 RCV001199851 RCV003462015 RCV004551263 RCV000515383 RCV000168391 RCV001357286

NM_000051.4(ATM):c.6718G>C (p.Asp2240His)

SNV
Germline

Chr11:108325455

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA168417

rs_587782478

6 SubmittersRCV000131592 RCV000692438 RCV001193604 RCV004567141

NM_000051.4(ATM):c.4703A>G (p.His1568Arg)

SNV
Germline

Chr11:108293404

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA168443

rs_368830730

9 SubmittersRCV000480209 RCV000131606 RCV001355688 RCV001798455 RCV000167871

NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn)

SNV
Germline

Chr11:108294952

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
ATM-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA168532

rs_587782506

12 SubmittersRCV000236820 RCV000131649 RCV000205840 RCV004551264 RCV000779764

NM_000051.4(ATM):c.2804C>T (p.Thr935Met)

SNV
Germline

Chr11:108268575

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial pancreatic carcinoma
ATM-related disorder
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA294422

rs_3218708

15 SubmittersRCV000204695 RCV000211988 RCV000131651 RCV001358229 RCV004739457 RCV000780917 RCV002291569

NM_000051.4(ATM):c.670A>G (p.Lys224Glu)

SNV
Germline

Chr11:108244795

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
ATM-related disorder
Condition: not provided
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA294425

rs_145053092

22 SubmittersRCV000131698 RCV004551265 RCV000587384 RCV000205199 RCV000211951 RCV001257492

NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)

SNV
Germline

Chr11:108307975

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA168653

rs_148064985

18 SubmittersRCV000131724 RCV001705933 RCV000587454 RCV003467183 RCV000199373 RCV004551266

NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)

SNV
Germline

Chr11:108330287

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
not specified
ATM-related disorder
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Malignant tumor of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA294439

rs_201314561

19 SubmittersRCV000131731 RCV000212067 RCV000206694 RCV001375519 RCV004551267 RCV000764944 RCV003462021 RCV001535788

NM_000051.4(ATM):c.5081C>G (p.Ala1694Gly)

SNV
Germline

Chr11:108299789

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA168721

rs_587782551

2 SubmittersRCV000131765 RCV001048603

NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)

SNV
Germline

Chr11:108335105

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Tip-toe gait
ATM-related disorder
Familial cancer of breast
Breast carcinoma
Familial cancer of breast
Ataxia-telangiectasia syndrome
Uterine corpus cancer
Breast and/or ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA294465

rs_587782652

41 SubmittersRCV000132066 RCV000169105 RCV000212079 RCV003318553 RCV004551268 RCV000709709 RCV001640164 RCV002285144 RCV003128150 RCV003492629

NM_000051.4(ATM):c.7559T>G (p.Met2520Arg)

SNV
Germline

Chr11:108331487

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA169309

rs_587782692

5 SubmittersRCV000132126 RCV004589632 RCV000522314 RCV000627852

NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)

SNV
Germline

Chr11:108335080

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Gastric cancer
Breast and/or ovarian cancer
Familial prostate cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA169419

rs_587782719

16 SubmittersRCV000255899 RCV000132208 RCV003467191 RCV000559678 RCV003162592 RCV003149912 RCV003230416

NM_000051.4(ATM):c.1378A>C (p.Thr460Pro)

SNV
Germline

Chr11:108250843

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA169445

rs_587782729

4 SubmittersRCV000483286 RCV000132224 RCV000471709

NM_000051.4(ATM):c.3964C>A (p.Leu1322Ile)

SNV
Germline

Chr11:108284444

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA169707

rs_144535256

6 SubmittersRCV000132364 RCV000237005 RCV000204555 RCV004586564

NM_000051.4(ATM):c.94C>T (p.Arg32Cys)

SNV
Germline

Chr11:108227797

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Malignant tumor of breast
not specified

Criteria Provided
Conflicting Classifications

CA169733

rs_148061139

9 SubmittersRCV000236602 RCV000132385 RCV000233534 RCV001197402 RCV001355326 RCV002465534

NM_000051.4(ATM):c.2887A>G (p.Met963Val)

SNV
Germline

Chr11:108271112

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
not specified
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA169888

rs_374353016

12 SubmittersRCV000132462 RCV000168295 RCV000236226 RCV001798460 RCV002225449 RCV001201309 RCV001355859 RCV004821983

NM_000051.4(ATM):c.1A>G (p.Met1Val)

SNV
Germline

Chr11:108227625

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial pancreatic carcinoma
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA298204

rs_730881359

8 SubmittersRCV000258119 RCV001093019 RCV001175687 RCV001355020 RCV003137690

NM_000051.4(ATM):c.76G>C (p.Glu26Gln)

SNV
Germline

Chr11:108227779

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298210

rs_730881361

11 SubmittersRCV000159711 RCV000215116 RCV000465732 RCV000656754 RCV002288670

NM_000051.4(ATM):c.95G>A (p.Arg32His)

SNV
Germline

Chr11:108227798

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA298213

rs_368161489

9 SubmittersRCV000459267 RCV000562263 RCV002288671 RCV001721017

NM_000051.4(ATM):c.283C>A (p.Gln95Lys)

SNV
Germline

Chr11:108229275

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA298245

rs_587781545

9 SubmittersRCV000159724 RCV000229615 RCV000445811 RCV000764933 RCV001175058

NM_000051.4(ATM):c.398A>T (p.Asn133Ile)

SNV
Germline

Chr11:108235736

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA298093

rs_730881330

6 SubmittersRCV000159666 RCV000543356 RCV001021590 RCV001193630

NM_000051.4(ATM):c.518G>T (p.Arg173Met)

SNV
Germline

Chr11:108243974

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA298111

rs_372694758

8 SubmittersRCV000456186 RCV000575164 RCV000991561 RCV002281972

NM_000051.4(ATM):c.538C>T (p.Gln180Ter)

SNV
Germline

Chr11:108243994

Pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA298114

rs_730881333

9 SubmittersRCV000505724 RCV000531127 RCV001024018 RCV004019935

NM_000051.4(ATM):c.742C>T (p.Arg248Ter)

SNV
Germline

Chr11:108244867

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA298123

rs_730881336

14 SubmittersRCV000159678 RCV000211945 RCV000410046 RCV000515228 RCV000709708 RCV003162669

NM_000051.4(ATM):c.1210C>G (p.Gln404Glu)

SNV
Germline

Chr11:108249077

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA298138

rs_730881340

3 SubmittersRCV000159683 RCV000628061 RCV003162670

NM_000051.4(ATM):c.1671G>A (p.Met557Ile)

SNV
Germline

Chr11:108251900

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA298141

rs_730881341

5 SubmittersRCV000159684 RCV000219319 RCV000532840

NM_000051.4(ATM):c.1727T>C (p.Ile576Thr)

SNV
Germline

Chr11:108251956

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA298144

rs_730881342

13 SubmittersRCV000159685 RCV000196810 RCV000590025 RCV003230420 RCV003462071 RCV004739497

NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys)

SNV
Germline

Chr11:108251977

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298336

rs_587780614

10 SubmittersRCV000228653 RCV000218850 RCV000590682 RCV003467239

NM_000051.4(ATM):c.1792A>G (p.Ile598Val)

SNV
Germline

Chr11:108252021

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA298147

rs_730881343

7 SubmittersRCV000159686 RCV000211969 RCV000462248 RCV000780876

NM_000051.4(ATM):c.2011A>G (p.Ile671Val)

SNV
Germline

Chr11:108253926

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA298153

rs_730881344

5 SubmittersRCV000159688 RCV000820528 RCV001186648

NM_000051.4(ATM):c.2096A>G (p.Glu699Gly)

SNV
Germline

Chr11:108254011

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Hereditary breast ovarian cancer syndrome
Condition: not provided
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA200987

rs_147934285

16 SubmittersRCV000159606 RCV000174438 RCV000204474 RCV001356430 RCV002225458 RCV003477568 RCV004589658 RCV004551366

NM_000051.4(ATM):c.2159G>A (p.Arg720His)

SNV
Germline

Chr11:108256249

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Breast and/or ovarian cancer
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA298156

rs_55830714

14 SubmittersRCV000159689 RCV000205354 RCV000211974 RCV001030522 RCV001174912 RCV001798544 RCV004551371

NM_000051.4(ATM):c.2251-10T>G

SNV
Germline

Chr11:108257471

Pathogenic/Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA298162

rs_730881346

13 SubmittersRCV000159691 RCV000161929 RCV000580644 RCV000515310 RCV001253609 RCV004739498

NM_000051.4(ATM):c.2346A>G (p.Leu782=)

SNV
Germline

Chr11:108257576

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Ataxia-telangiectasia syndrome
Breast and/or ovarian cancer
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA297990

rs_730881285

13 SubmittersRCV000159608 RCV000211981 RCV000727061 RCV001085827 RCV001798540 RCV004551367 RCV004589660

NM_000051.4(ATM):c.2376+1G>T

SNV
Germline

Chr11:108257607

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA298163

rs_730881347

3 SubmittersRCV000159692 RCV000568382 RCV000810067

NM_000051.4(ATM):c.2396C>T (p.Ala799Val)

SNV
Germline

Chr11:108259005

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Condition: not provided
Malignant tumor of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA298164

rs_199954262

12 SubmittersRCV000159693 RCV000254631 RCV000472551 RCV001704147 RCV001355809 RCV003149969

NM_000051.4(ATM):c.2598T>G (p.Val866=)

SNV
Germline

Chr11:108267302

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298179

rs_730881350

6 SubmittersRCV000159699 RCV000562239 RCV001078605 RCV001199919 RCV004589671

NM_000051.4(ATM):c.2735A>G (p.Gln912Arg)

SNV
Germline

Chr11:108268506

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary cancer
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA298188

rs_730881353

8 SubmittersRCV000159702 RCV000474750 RCV000567796 RCV001711426 RCV003492638 RCV004551372

NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter)

SNV
Germline

Chr11:108271378

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Breast cancer, susceptibility to
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA298345

rs_730881388

9 SubmittersRCV000159761 RCV000211992 RCV000457084 RCV001258064 RCV003467240

NM_000051.4(ATM):c.3085A>T (p.Thr1029Ser)

SNV
Germline

Chr11:108272539

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298194

rs_730881355

6 SubmittersRCV000159705 RCV000234598 RCV001180649 RCV004567191

NM_000051.4(ATM):c.3154-2A>G

SNV
Germline

Chr11:108272720

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Breast-ovarian cancer, familial, susceptibility to, 1
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA298200

rs_730881357

12 SubmittersRCV000159707 RCV000206276 RCV000211994 RCV003128229 RCV003467229

NM_000051.4(ATM):c.3299C>T (p.Thr1100Met)

SNV
Germline

Chr11:108279505

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298348

rs_189445371

10 SubmittersRCV000159762 RCV000215728 RCV000559406 RCV003467241

NM_000051.4(ATM):c.3304G>T (p.Gly1102Ter)

SNV
Germline

Chr11:108279510

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA298219

rs_147557621

4 SubmittersRCV000159714 RCV000213174 RCV001388988 RCV004019936

NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala)

SNV
Germline

Chr11:108279558

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298222

rs_572564322

10 SubmittersRCV000159715 RCV000211998 RCV000335065 RCV003226222 RCV004589672

NM_000051.4(ATM):c.3747-1G>C

SNV
Germline

Chr11:108284226

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA298228

rs_730881364

5 SubmittersRCV000159717 RCV000494137 RCV001215130 RCV004019938

NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)

SNV
Germline

Chr11:108284328

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA298351

rs_730881389

9 SubmittersRCV000159763 RCV000474326 RCV001290629 RCV002466454 RCV003225035

NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys)

SNV
Germline

Chr11:108284379

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA298232

rs_183263185

12 SubmittersRCV000159719 RCV000212005 RCV000398586 RCV002288672 RCV002281973

NM_000051.4(ATM):c.3961A>G (p.Met1321Val)

SNV
Germline

Chr11:108284441

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298235

rs_730881366

7 SubmittersRCV000159720 RCV000573270 RCV000703729 RCV001357834 RCV004567192

NM_000051.4(ATM):c.4110-9C>A

SNV
Germline

Chr11:108288968

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA298238

rs_730881367

3 SubmittersRCV000159721 RCV000472580 RCV002509261

NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro)

SNV
Germline

Chr11:108289759

Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA298357

rs_730881391

7 SubmittersRCV000159765 RCV000206187 RCV000220574 RCV003467242

NM_000051.4(ATM):c.4396C>G (p.Arg1466Gly)

SNV
Germline

Chr11:108289761

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298242

rs_730881369

6 SubmittersRCV000159723 RCV000212014 RCV000197917 RCV003467230

NM_000051.4(ATM):c.4466G>A (p.Arg1489His)

SNV
Germline

Chr11:108292648

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298251

rs_201594549

8 SubmittersRCV000159726 RCV000217727 RCV000467957 RCV003467232

NM_000051.4(ATM):c.4724G>A (p.Arg1575His)

SNV
Germline

Chr11:108293425

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA298254

rs_550552791

15 SubmittersRCV000159727 RCV000204984 RCV000587149 RCV001250435 RCV001268973 RCV004760405

NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe)

SNV
Germline

Chr11:108293469

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA298257

rs_35962982

15 SubmittersRCV000159728 RCV000196470 RCV000515177 RCV000589456 RCV001257475 RCV003321521

NM_000051.4(ATM):c.4856G>A (p.Arg1619Lys)

SNV
Germline

Chr11:108295006

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA298362

rs_730881393

11 SubmittersRCV000159767 RCV000213785 RCV000539303 RCV001194329 RCV004567195 RCV004739502

NM_000051.4(ATM):c.4932G>C (p.Met1644Ile)

SNV
Germline

Chr11:108297309

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA298263

rs_730881371

6 SubmittersRCV000159730 RCV000457653 RCV000773112 RCV001798545

NM_000051.4(ATM):c.5630T>C (p.Phe1877Ser)

SNV
Germline

Chr11:108304808

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298278

rs_202028401

7 SubmittersRCV000159735 RCV000472045 RCV000567744 RCV001357645 RCV003338433

NM_000051.4(ATM):c.5825C>T (p.Ala1942Val)

SNV
Germline

Chr11:108310222

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA298365

rs_730881394

8 SubmittersRCV000159768 RCV000218056 RCV000463126 RCV003462077

NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter)

SNV
Germline

Chr11:108310287

Pathogenic/Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA298368

rs_201963507

8 SubmittersRCV000159769 RCV000206728 RCV000570753 RCV003467244

NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)

SNV
Germline

Chr11:108315911

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Breast carcinoma
Carcinoma of pancreas
Adenocarcinoma
Gastric cancer
ATM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA298296

rs_139770721

23 SubmittersRCV000159742 RCV000167946 RCV000212037 RCV000762824 RCV000709711 RCV001657897 RCV001391204 RCV001706063 RCV003162671 RCV004551374

NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)

SNV
Germline

Chr11:108316069

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Malignant tumor of breast
Familial cancer of breast
ATM-related disorder
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA298299

rs_202206540

19 SubmittersRCV000159743 RCV000167963 RCV000212039 RCV001357434 RCV001251135 RCV004739499 RCV004760406

NM_000051.4(ATM):c.6257A>T (p.Tyr2086Phe)

SNV
Germline

Chr11:108317431

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298305

rs_730881380

10 SubmittersRCV000159745 RCV000231734 RCV000568069 RCV001731490 RCV002288674

NM_000051.4(ATM):c.6604T>G (p.Tyr2202Asp)

SNV
Germline

Chr11:108325341

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298028

rs_730881311

13 SubmittersRCV000159641 RCV000199822 RCV000212047 RCV000764938 RCV000766519 RCV001798542 RCV003462068

NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)

SNV
Germline

Chr11:108325416

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA298317

rs_564652222

23 SubmittersRCV000159749 RCV000196419 RCV000212048 RCV000762827 RCV001255479 RCV002288675

NM_000051.4(ATM):c.6823A>G (p.Ile2275Val)

SNV
Germline

Chr11:108326073

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
not specified
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA298040

rs_587779857

9 SubmittersRCV000219191 RCV000456777 RCV000589270 RCV002484994 RCV003467220 RCV003226221 RCV004724945

NM_000051.4(ATM):c.7307+4A>G

SNV
Germline

Chr11:108329242

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA298052

rs_730881316

3 SubmittersRCV000159649 RCV000212061 RCV001051122

NM_000051.4(ATM):c.7494T>C (p.Ser2498=)

SNV
Germline

Chr11:108330400

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
Carcinoma of colon
Breast and/or ovarian cancer
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA297966

rs_34393781

15 SubmittersRCV000159594 RCV000205045 RCV000212070 RCV000589020 RCV001356383 RCV003492636 RCV004551364 RCV004589650

NM_000051.4(ATM):c.7927+10T>C

SNV
Germline

Chr11:108332910

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA297970

rs_730881277

5 SubmittersRCV000159596 RCV000198055 RCV000582584 RCV004998307 RCV004589651

NM_000051.4(ATM):c.7997C>A (p.Thr2666Asn)

SNV
Germline

Chr11:108333955

Pathogenic/Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA298325

rs_730881384

4 SubmittersRCV000159752 RCV000628059 RCV001027026 RCV003467237

NM_000051.4(ATM):c.8405A>G (p.Gln2802Arg)

SNV
Germline

Chr11:108343358

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298077

rs_730881324

7 SubmittersRCV000159660 RCV000464909 RCV000562069 RCV003467222

NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln)

SNV
Germline

Chr11:108345752

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
not specified
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298080

rs_730881325

17 SubmittersRCV000159661 RCV000168380 RCV000569229 RCV000764950 RCV001526890 RCV001354380 RCV003467223

NM_000051.4(ATM):c.8532T>C (p.Ile2844=)

SNV
Germline

Chr11:108345856

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Condition: not provided
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA297972

rs_730881278

13 SubmittersRCV000159598 RCV000212085 RCV000231198 RCV001580007 RCV004551365 RCV004589652

NM_000051.4(ATM):c.8584+2T>C

SNV
Germline

Chr11:108345910

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA298083

rs_730881326

7 SubmittersRCV000411372 RCV000567828 RCV001798543 RCV003462070

NM_000051.4(ATM):c.8672-13T>G

SNV
Germline

Chr11:108353753

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA297978

rs_730881280

3 SubmittersRCV000159600 RCV001857580 RCV004567186

NM_000051.4(ATM):c.8988-1G>C

SNV
Germline

Chr11:108365324

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA298332

rs_730881386

10 SubmittersRCV000159756 RCV000563949 RCV000627869 RCV002492633 RCV003467238

NM_000051.4(ATM):c.9008A>G (p.Asn3003Ser)

SNV
Germline

Chr11:108365345

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA298099

rs_144636562

8 SubmittersRCV000159669 RCV000221585 RCV000531722 RCV004567189

NM_000051.4(ATM):c.9031A>G (p.Met3011Val)

SNV
Germline

Chr11:108365368

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA298102

rs_372795527

13 SubmittersRCV000159670 RCV000196967 RCV000212097 RCV000779780 RCV003153436 RCV004739496

NM_000051.4(ATM):c.9166G>T (p.Val3056Leu)

SNV
Germline

Chr11:108365503

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA298108

rs_371767164

13 SubmittersRCV000159672 RCV000200661 RCV000589071 RCV003467224 RCV004551370

NM_000051.4(ATM):c.1A>C (p.Met1Leu)

SNV
Germline

Chr11:108227625

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA197028

rs_730881359

7 SubmittersRCV000166918 RCV000576648 RCV004019993

NM_000051.4(ATM):c.2T>C (p.Met1Thr)

SNV
Germline

Chr11:108227626

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA197209

rs_786203606

13 SubmittersRCV000166992 RCV000168377 RCV000519260 RCV003483551 RCV002221505

NM_000051.4(ATM):c.115A>G (p.Thr39Ala)

SNV
Germline

Chr11:108227818

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Malignant tumor of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
not specified
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA190693

rs_779297339

14 SubmittersRCV000164338 RCV000231502 RCV000416278 RCV001535538 RCV002288733 RCV002509264 RCV004552886

NM_000051.4(ATM):c.131A>G (p.Asp44Gly)

SNV
Germline

Chr11:108227834

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA194916

rs_150143957

13 SubmittersRCV000590355 RCV000166071 RCV000197254 RCV001255212 RCV003474873

NM_000051.4(ATM):c.151C>T (p.Gln51Ter)

SNV
Germline

Chr11:108227854

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA198174

rs_786203888

3 SubmittersRCV000167389 RCV001068287 RCV004019997

NM_000051.4(ATM):c.180T>G (p.Val60=)

SNV
Germline

Chr11:108227883

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA188454

rs_786201375

5 SubmittersRCV000163497 RCV000628316 RCV002291576 RCV004589713

NM_000051.4(ATM):c.332-3T>C

SNV
Germline

Chr11:108235667

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related disorder
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA194908

rs_376116157

7 SubmittersRCV000166067 RCV000226757 RCV004589781 RCV004552915 RCV000430214 RCV001704210

NM_000051.4(ATM):c.411C>T (p.Tyr137=)

SNV
Germline

Chr11:108235749

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA186984

rs_756160533

8 SubmittersRCV000162797 RCV000272976 RCV001721030 RCV002222414 RCV004589690 RCV004551383

NM_000051.4(ATM):c.507T>C (p.Ser169=)

SNV
Germline

Chr11:108243963

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Breast and/or ovarian cancer
Condition: not provided
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA187471

rs_758619186

14 SubmittersRCV000163111 RCV000228014 RCV000500341 RCV001798569 RCV001711435 RCV004589699 RCV004551385

NM_000051.4(ATM):c.513C>G (p.Tyr171Ter)

SNV
Germline

Chr11:108243969

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA190051

rs_786201693

8 SubmittersRCV000164103 RCV000520700 RCV000533506 RCV003467285

NM_000051.4(ATM):c.712A>G (p.Ile238Val)

SNV
Germline

Chr11:108244837

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA194160

rs_754275014

13 SubmittersRCV000165761 RCV000235409 RCV000229485 RCV001196993

NM_000051.4(ATM):c.858A>G (p.Gln286=)

SNV
Germline

Chr11:108244983

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA191148

rs_145301478

8 SubmittersRCV000164514 RCV000468266 RCV000606983 RCV002460940 RCV004552892 RCV004589750

NM_000051.4(ATM):c.901+1G>A

SNV
Germline

Chr11:108245027

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA195792

rs_748840480

11 SubmittersRCV000166407 RCV000205735 RCV000515230 RCV003474877

NM_000051.4(ATM):c.901+3A>T

SNV
Germline

Chr11:108245029

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA195265

rs_786203070

3 SubmittersRCV000166211 RCV003500509

NM_000051.4(ATM):c.1065+1G>T

SNV
Germline

Chr11:108247128

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA194915

rs_201089102

11 SubmittersRCV000166070 RCV000436210 RCV000411731 RCV001420920 RCV003468770

NM_000051.4(ATM):c.1261T>C (p.Ser421Pro)

SNV
Germline

Chr11:108250726

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA193982

rs_376196220

5 SubmittersRCV000165683 RCV000203884 RCV000480887 RCV003468750

NM_000051.4(ATM):c.1271C>A (p.Pro424His)

SNV
Germline

Chr11:108250736

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA190822

rs_147472613

10 SubmittersRCV000164384 RCV000218574 RCV000526201 RCV001193062 RCV003467294

NM_000051.4(ATM):c.1351C>T (p.Arg451Cys)

SNV
Germline

Chr11:108250816

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA191951

rs_201719927

11 SubmittersRCV000164863 RCV000200270 RCV000235327 RCV004552897 RCV004589759

NM_000051.4(ATM):c.1481G>A (p.Gly494Asp)

SNV
Germline

Chr11:108250946

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ovarian cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA192151

rs_786202233

8 SubmittersRCV000164949 RCV000669269 RCV003462158 RCV003153443 RCV001574162

NM_000051.4(ATM):c.1483A>G (p.Ile495Val)

SNV
Germline

Chr11:108250948

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA191185

rs_786201969

5 SubmittersRCV000164527 RCV000627916 RCV000589044 RCV002247566

NM_000051.4(ATM):c.1547T>C (p.Leu516Ser)

SNV
Germline

Chr11:108251012

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA192036

rs_786202195

2 SubmittersRCV000164896 RCV001349973

NM_000051.4(ATM):c.1648A>G (p.Ile550Val)

SNV
Germline

Chr11:108251877

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Malignant tumor of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA192929

rs_202144949

10 SubmittersRCV000165266 RCV001721071 RCV002288745 RCV000470788 RCV001356838 RCV004552903

NM_000051.4(ATM):c.1670T>C (p.Met557Thr)

SNV
Germline

Chr11:108251899

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA194138

rs_786202770

4 SubmittersRCV000165751 RCV000486174 RCV000556946

NM_000051.4(ATM):c.1689G>A (p.Met563Ile)

SNV
Germline/somatic

Chr11:108251918

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Neoplasm

Criteria Provided
Conflicting Classifications

CA192994

rs_786202469

3 SubmittersRCV000165292 RCV000466714 RCV004668824

NM_000051.4(ATM):c.1700A>G (p.Asn567Ser)

SNV
Germline

Chr11:108251929

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA195908

rs_786203230

6 SubmittersRCV000166452 RCV001071389 RCV004567303 RCV000235690

NM_000051.4(ATM):c.1737G>A (p.Trp579Ter)

SNV
Germline

Chr11:108251966

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA190035

rs_786201689

4 SubmittersRCV000164097 RCV001215174 RCV004019962

NM_000051.4(ATM):c.1844T>C (p.Leu615Pro)

SNV
Germline

Chr11:108252858

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA197807

rs_786203783

8 SubmittersRCV000167236 RCV004721285 RCV003444209 RCV000819663

NM_000051.4(ATM):c.2074C>T (p.Arg692Cys)

SNV
Germline

Chr11:108253989

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA189945

rs_765965513

11 SubmittersRCV000164063 RCV000168071 RCV000219263 RCV000780902 RCV003150012 RCV003316015 RCV003483533 RCV004739514

NM_000051.4(ATM):c.2098C>T (p.Gln700Ter)

SNV
Germline

Chr11:108254013

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA194043

rs_786202743

8 SubmittersRCV000165710 RCV000762816 RCV000430405 RCV003462186 RCV000525812

NM_000051.4(ATM):c.2220A>G (p.Ala740=)

SNV
Germline

Chr11:108256310

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Malignant tumor of breast
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA188498

rs_56353517

11 SubmittersRCV000163515 RCV000232692 RCV001192849 RCV001356556 RCV001711329 RCV003315999

NM_000051.4(ATM):c.2251-4A>G

SNV
Germline

Chr11:108257477

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA194765

rs_786202935

9 SubmittersRCV000628167 RCV000658621 RCV000166010 RCV003462196

NM_000051.4(ATM):c.2426C>A (p.Ser809Ter)

SNV
Germline

Chr11:108259035

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Malignant tumor of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA197946

rs_730881348

7 SubmittersRCV000167295 RCV000235751 RCV003468805 RCV000457197 RCV003114318

NM_000051.4(ATM):c.2492A>G (p.Asp831Gly)

SNV
Germline

Chr11:108267196

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA196932

rs_587781352

9 SubmittersRCV000166878 RCV000474811 RCV000478109 RCV002498828 RCV003315416

NM_000051.4(ATM):c.2522A>C (p.Asp841Ala)

SNV
Germline

Chr11:108267226

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA189280

rs_587781812

12 SubmittersRCV000163825 RCV000205271 RCV000515444 RCV000589287 RCV003492681

NM_000051.4(ATM):c.2606C>G (p.Ala869Gly)

SNV
Germline

Chr11:108267310

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA190672

rs_145513717

12 SubmittersRCV000164332 RCV000476653 RCV000479991 RCV002225480 RCV002465546 RCV003467290

NM_000051.4(ATM):c.2615C>T (p.Pro872Leu)

SNV
Germline

Chr11:108267319

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA194919

rs_786202977

4 SubmittersRCV000166072 RCV000196727 RCV003468771

NM_000051.4(ATM):c.2743A>G (p.Thr915Ala)

SNV
Germline

Chr11:108268514

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA195398

rs_786203106

3 SubmittersRCV000695920 RCV000166264 RCV004721284

NM_000051.4(ATM):c.2778A>G (p.Lys926=)

SNV
Germline

Chr11:108268549

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA187843

rs_372569168

9 SubmittersRCV000163247 RCV000332678 RCV001706073 RCV004551389 RCV004589707

NM_000051.4(ATM):c.2789T>G (p.Leu930Ter)

SNV
Germline

Chr11:108268560

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA196179

rs_786203309

5 SubmittersRCV000166556 RCV003462218 RCV000410598

NM_000051.4(ATM):c.2804C>G (p.Thr935Arg)

SNV
Germline

Chr11:108268575

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA190962

rs_3218708

9 SubmittersRCV000164443 RCV000557491 RCV001030525 RCV000779788 RCV003238729

NM_000051.4(ATM):c.2849T>G (p.Leu950Arg)

SNV
Germline

Chr11:108271074

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA195209

rs_786203054

8 SubmittersRCV000166191 RCV000255989 RCV000628016 RCV003483541 RCV003468776

NM_000051.4(ATM):c.2927T>C (p.Val976Ala)

SNV
Germline

Chr11:108271256

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA196789

rs_146145357

10 SubmittersRCV000166813 RCV000230218 RCV000588819 RCV002271439 RCV003462227 RCV003491911

NM_000051.4(ATM):c.2945G>A (p.Arg982His)

SNV
Germline

Chr11:108271274

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA190572

rs_749471737

14 SubmittersRCV000164299 RCV000235707 RCV000476746 RCV002247564 RCV003325192

NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro)

SNV
Germline

Chr11:108272591

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided

Reviewed By Expert Panel

CA195169

rs_568461905

12 SubmittersRCV000166173 RCV002221504 RCV000667954 RCV001795288

NM_000051.4(ATM):c.3349C>T (p.Gln1117Ter)

SNV
Germline

Chr11:108279555

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related cancer predisposition

Reviewed By Expert Panel

CA191131

rs_786201957

4 SubmittersRCV000164505 RCV000554388 RCV004019965 RCV005001009

NM_000051.4(ATM):c.3378A>G (p.Lys1126=)

SNV
Germline

Chr11:108279584

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
ATM-related disorder
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA191584

rs_149182949

13 SubmittersRCV000164706 RCV000858786 RCV000206390 RCV004552894 RCV001357285 RCV004589755

NM_000051.4(ATM):c.3447T>C (p.Asn1149=)

SNV
Germline

Chr11:108281039

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA192470

rs_763473729

5 SubmittersRCV000165081 RCV004589764 RCV001248472 RCV001704200

NM_000051.4(ATM):c.3467C>T (p.Thr1156Met)

SNV
Germline

Chr11:108281059

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Malignant tumor of breast
not specified
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA186974

rs_759951393

7 SubmittersRCV000162792 RCV000167875 RCV000478106 RCV001354530 RCV003479031 RCV004551382

NM_000051.4(ATM):c.3468G>A (p.Thr1156=)

SNV
Germline

Chr11:108281060

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA186944

rs_148358896

10 SubmittersRCV000162776 RCV000198955 RCV000419306 RCV001721028 RCV004589688 RCV004551381

NM_000051.4(ATM):c.3588A>G (p.Lys1196=)

SNV
Germline

Chr11:108282721

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA188209

rs_376524625

8 SubmittersRCV000163406 RCV000205348 RCV000779757 RCV001711328 RCV004551395 RCV004589710

NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg)

SNV
Germline

Chr11:108284286

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related disorder
Hereditary breast ovarian cancer syndrome
Breast and/or ovarian cancer
not specified

Criteria Provided
Conflicting Classifications

CA193557

rs_146017595

17 SubmittersRCV000165498 RCV000206887 RCV000590439 RCV000763700 RCV003462176 RCV004552911 RCV004764775 RCV001798592 RCV004700508

NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg)

SNV
Germline

Chr11:108287688

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA191395

rs_141921797

14 SubmittersRCV000164614 RCV000167992 RCV000479421 RCV000780899 RCV003153441 RCV004739522

NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg)

SNV
Germline

Chr11:108289730

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Hereditary breast ovarian cancer syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA193670

rs_527471560

7 SubmittersRCV000165552 RCV000780910 RCV001030530 RCV000232578 RCV001589033

NM_000051.4(ATM):c.4451T>C (p.Met1484Thr)

SNV
Germline

Chr11:108292633

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA197812

rs_786203785

6 SubmittersRCV000167238 RCV001212030 RCV003153456 RCV004567337

NM_000051.4(ATM):c.4456G>C (p.Val1486Leu)

SNV
Germline

Chr11:108292638

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA196339

rs_786203352

5 SubmittersRCV000166626 RCV000205290 RCV003324726

NM_000051.4(ATM):c.4492T>C (p.Leu1498=)

SNV
Germline

Chr11:108292674

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
not specified
Breast and/or ovarian cancer
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA189119

rs_748949478

10 SubmittersRCV000163758 RCV000761806 RCV001085061 RCV002265641 RCV003492680 RCV004551410 RCV004589727

NM_000051.4(ATM):c.4665C>T (p.Leu1555=)

SNV
Germline

Chr11:108293366

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA188508

rs_374431061

8 SubmittersRCV000163519 RCV000330293 RCV000725936 RCV001081281 RCV004589714

NM_000051.4(ATM):c.4702C>T (p.His1568Tyr)

SNV
Germline

Chr11:108293403

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA192867

rs_753269143

7 SubmittersRCV000165250 RCV000531059 RCV003468736 RCV002273966 RCV004689637

NM_000051.4(ATM):c.4776G>C (p.Glu1592Asp)

SNV
Germline

Chr11:108293477

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA194897

rs_786202973

3 SubmittersRCV000166063 RCV000548784 RCV004786469

NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter)

SNV
Germline/somatic

Chr11:108295002

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
ATM-related disorder
Familial cancer of breast
Abnormal central motor function
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA197013

rs_762083530

17 SubmittersRCV000166912 RCV000483137 RCV000525721 RCV004739542 RCV001808440 RCV001814077 RCV003162714

NM_000051.4(ATM):c.4853G>A (p.Arg1618Gln)

SNV
Germline

Chr11:108295003

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA190612

rs_765759912

7 SubmittersRCV000164315 RCV000228294 RCV000994709 RCV003474856

NM_000051.4(ATM):c.4910-4C>T

SNV
Germline

Chr11:108297283

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA193116

rs_786202493

6 SubmittersRCV000165333 RCV000444016 RCV000628273 RCV004589770

NM_000051.4(ATM):c.4964C>A (p.Ser1655Tyr)

SNV
Germline

Chr11:108297341

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA187451

rs_786201215

8 SubmittersRCV000163104 RCV000486511 RCV000804749 RCV002228686 RCV002485008 RCV004589698

NM_000051.4(ATM):c.5101A>G (p.Lys1701Glu)

SNV
Germline

Chr11:108299809

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA193341

rs_746220021

2 SubmittersRCV000165416 RCV001327802

NM_000051.4(ATM):c.5352C>T (p.Asn1784=)

SNV
Germline

Chr11:108302885

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
not specified
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA186379

rs_140641762

12 SubmittersRCV000162510 RCV000732576 RCV000988695 RCV004700498 RCV004551378 RCV004589675

NM_000051.4(ATM):c.5417T>C (p.Ile1806Thr)

SNV
Germline

Chr11:108302950

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Breast and/or ovarian cancer
Condition: not provided
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA194797

rs_773546064

8 SubmittersRCV000166025 RCV000232405 RCV003491904 RCV001571325 RCV003462197 RCV003493474

NM_000051.4(ATM):c.5497-2A>G

SNV
Germline

Chr11:108304673

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA197864

rs_786203796

7 SubmittersRCV000167256 RCV003468802 RCV000627890 RCV004719730

NM_000051.4(ATM):c.6006+1G>A

SNV
Germline

Chr11:108312499

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA191382

rs_786202016

3 SubmittersRCV000164608 RCV001215993 RCV004019966

NM_000051.4(ATM):c.6108T>C (p.Tyr2036=)

SNV
Germline

Chr11:108316023

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Malignant tumor of breast
not specified
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA192745

rs_3092826

12 SubmittersRCV000165201 RCV001085669 RCV001356445 RCV000586950 RCV001528538 RCV004589768

NM_000051.4(ATM):c.6114C>T (p.His2038=)

SNV
Germline

Chr11:108316029

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA198154

rs_774993357

11 SubmittersRCV000167380 RCV000458818 RCV000438751 RCV004546446 RCV001798601 RCV001355851 RCV004589824

NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp)

SNV
Germline

Chr11:108316060

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
not specified
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA197753

rs_786203767

8 SubmittersRCV000523725 RCV000167214 RCV004567335 RCV000628069 RCV003330526 RCV003483552

NM_000051.4(ATM):c.6198G>C (p.Gln2066His)

SNV
Germline

Chr11:108316113

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA196294

rs_786203341

4 SubmittersRCV000166609 RCV000235567 RCV001205244

NM_000051.4(ATM):c.6198+3A>G

SNV
Germline

Chr11:108316116

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA191660

rs_786202092

7 SubmittersRCV000164733 RCV000532401 RCV000486622 RCV003462146

NM_000051.4(ATM):c.6234C>T (p.Ser2078=)

SNV
Germline

Chr11:108317408

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Ataxia-telangiectasia syndrome
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA187719

rs_569483748

11 SubmittersRCV000163200 RCV000422005 RCV000726706 RCV001081503 RCV001798573 RCV004589705

NM_000051.4(ATM):c.6382T>C (p.Leu2128=)

SNV
Germline

Chr11:108319988

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA195413

rs_753646931

16 SubmittersRCV000200503 RCV000166269 RCV003477627 RCV000432613 RCV004552918 RCV004589788

NM_000051.4(ATM):c.6465G>A (p.Val2155=)

SNV
Germline

Chr11:108321313

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA188290

rs_140423883

11 SubmittersRCV000163439 RCV000439900 RCV000679135 RCV001083758 RCV004589712

NM_000051.4(ATM):c.6537T>G (p.Ile2179Met)

SNV
Germline

Chr11:108321385

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related disorder
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA194187

rs_146243469

16 SubmittersRCV000165775 RCV000205267 RCV000590569 RCV000764937 RCV003474869 RCV004739529 RCV002225485 RCV003387784

NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu)

SNV
Germline

Chr11:108326110

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA190777

rs_1800061

14 SubmittersRCV000164364 RCV000234176 RCV000485783 RCV001201232 RCV001355759 RCV003467292

NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile)

SNV
Germline

Chr11:108327673

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
ATM-related disorder
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA196086

rs_3092831

15 SubmittersRCV000168468 RCV000166521 RCV003468785 RCV003483545 RCV004739536 RCV000586878 RCV000855628

NM_000051.4(ATM):c.7135C>G (p.Leu2379Val)

SNV
Germline

Chr11:108329066

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA194928

rs_778888033

12 SubmittersRCV000166076 RCV002509268 RCV000463701 RCV001257490 RCV000236581

NM_000051.4(ATM):c.7157C>A (p.Ala2386Glu)

SNV
Germline

Chr11:108329088

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA197532

rs_786203697

3 SubmittersRCV000167115 RCV000627922 RCV000487239

NM_000051.4(ATM):c.7174C>T (p.Arg2392Trp)

SNV
Germline

Chr11:108329105

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Condition: not provided
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA196089

rs_149827260

15 SubmittersRCV000166522 RCV000168469 RCV000855629 RCV003468786 RCV003483546 RCV001356845 RCV000590313 RCV004739537

NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser)

SNV
Germline

Chr11:108329166

Conflicting classifications of pathogenicity

Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA196193

rs_786203311

12 SubmittersRCV000235284 RCV000764942 RCV000166564 RCV001358721 RCV003468787 RCV000205986

NM_000051.4(ATM):c.7289A>G (p.His2430Arg)

SNV
Germline

Chr11:108329220

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA194451

rs_786202856

6 SubmittersRCV000165890 RCV001770130 RCV004567287 RCV000458599 RCV003153448

NM_000051.4(ATM):c.7307G>A (p.Arg2436Lys)

SNV
Germline

Chr11:108329238

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA196452

rs_786203394

8 SubmittersRCV000166679 RCV000230377 RCV003338435 RCV004739538 RCV004724961

NM_000051.4(ATM):c.7359T>G (p.Arg2453=)

SNV
Germline

Chr11:108330265

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA189323

rs_786201541

6 SubmittersRCV000163843 RCV000195799 RCV001088026 RCV004589733

NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys)

SNV
Germline

Chr11:108330281

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified
Breast and/or ovarian cancer
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA193139

rs_730881383

17 SubmittersRCV000165342 RCV000512906 RCV002288746 RCV001193059 RCV003491896 RCV000197298 RCV000764943

NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr)

SNV
Germline

Chr11:108330369

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast
Ataxia-telangiectasia syndrome
Hereditary cancer
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA196568

rs_774281788

12 SubmittersRCV000166722 RCV000255700 RCV004689641 RCV001535786 RCV000509266 RCV000541770 RCV001175362 RCV002247573

NM_000051.4(ATM):c.7522G>A (p.Gly2508Arg)

SNV
Germline

Chr11:108331450

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
ATM-related disorder
not specified
Hereditary cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA197186

rs_754395517

10 SubmittersRCV000235394 RCV000461205 RCV000166982 RCV004552929 RCV004800304 RCV004698829 RCV004567324

NM_000051.4(ATM):c.7542T>C (p.Tyr2514=)

SNV
Germline

Chr11:108331470

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
ATM-related disorder
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA197160

rs_777925486

10 SubmittersRCV000166968 RCV000430989 RCV000463235 RCV004552928 RCV004589813 RCV001711449

NM_000051.4(ATM):c.7570G>C (p.Ala2524Pro)

SNV
Germline

Chr11:108331498

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA198094

rs_769142993

3 SubmittersRCV000550379 RCV000167357 RCV003319326

NM_000051.4(ATM):c.7629+2T>C

SNV
Germline

Chr11:108331559

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA195221

rs_786203059

8 SubmittersRCV000236019 RCV000166196 RCV000697479 RCV001171408 RCV000762828

NM_000051.4(ATM):c.7816A>G (p.Ile2606Val)

SNV
Germline

Chr11:108332789

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA196681

rs_376824528

15 SubmittersRCV000166765 RCV000513206 RCV000625763 RCV002265647 RCV002485035 RCV000197716

NM_000051.4(ATM):c.7948G>A (p.Asp2650Asn)

SNV
Germline

Chr11:108333906

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA192109

rs_786202219

3 SubmittersRCV000164935 RCV002516471 RCV003468725

NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser)

SNV
Germline

Chr11:108343246

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA194563

rs_748634900

7 SubmittersRCV000165932 RCV000200060 RCV003468762 RCV004821986

NM_000051.4(ATM):c.8479T>A (p.Phe2827Ile)

SNV
Germline

Chr11:108345803

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA193918

rs_370152402

3 SubmittersRCV000165657 RCV000628018 RCV000485679

NM_000051.4(ATM):c.8530A>G (p.Ile2844Val)

SNV
Germline

Chr11:108345854

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA198113

rs_756230327

5 SubmittersRCV000779779 RCV000167366 RCV000473223 RCV001562843

NM_000051.4(ATM):c.8556T>C (p.Tyr2852=)

SNV
Germline

Chr11:108345880

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA188843

rs_779394254

6 SubmittersRCV000163648 RCV000612311 RCV000539465 RCV002478499 RCV004589719

NM_000051.4(ATM):c.8596C>G (p.Leu2866Val)

SNV
Germline

Chr11:108347290

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA194948

rs_368666328

9 SubmittersRCV000168218 RCV000166084 RCV002272149 RCV003316050

NM_000051.4(ATM):c.8711A>G (p.Glu2904Gly)

SNV
Germline

Chr11:108353805

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA194327

rs_786202826

6 SubmittersRCV000165842 RCV000230822 RCV000659280

NM_000051.4(ATM):c.8763G>A (p.Thr2921=)

SNV
Germline

Chr11:108353857

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA188268

rs_781528244

6 SubmittersRCV000163433 RCV000700345 RCV001651032 RCV004589711

NM_000051.4(ATM):c.8786+1G>C

SNV
Germline

Chr11:108353881

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Gastric cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA196631

rs_17174393

7 SubmittersRCV000254910 RCV000166748 RCV000196816 RCV003162711 RCV003468793

NM_000051.4(ATM):c.8786+1G>T

SNV
Germline

Chr11:108353881

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA189911

rs_17174393

9 SubmittersRCV000164050 RCV000540315 RCV001558979 RCV002485015 RCV003467284

NM_000051.4(ATM):c.8938C>A (p.Leu2980Ile)

SNV
Germline

Chr11:108365169

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA197606

rs_786203721

6 SubmittersRCV000167148 RCV004567331 RCV004589818 RCV000537024

NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)

SNV
Germline

Chr11:108365208

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary breast ovarian cancer syndrome
Ataxia-telangiectasia syndrome
Koolen-de Vries syndrome
Familial cancer of breast
Breast cancer, susceptibility to

Criteria Provided
Multiple Submitters
No Conflicts

CA194505

rs_770641163

20 SubmittersRCV000165909 RCV000515430 RCV000414034 RCV000416708 RCV000169469 RCV004767107 RCV003462193 RCV001265579

NM_000051.4(ATM):c.8987+1G>C

SNV
Germline

Chr11:108365219

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA197313

rs_786203631

3 SubmittersRCV000167026 RCV003500511 RCV004019994

NM_000051.4(ATM):c.8987+3G>A

SNV
Germline

Chr11:108365221

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
Familial ovarian cancer
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA189127

rs_56360226

11 SubmittersRCV000163760 RCV000233461 RCV000318833 RCV000725914 RCV001357667 RCV004551411 RCV004589728

NM_000051.4(ATM):c.8988-2A>G

SNV
Germline

Chr11:108365323

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Breast cancer, susceptibility to
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA191650

rs_786202087

7 SubmittersRCV000164726 RCV000627859 RCV001258066 RCV003468720

NM_000051.4(ATM):c.9045G>A (p.Glu3015=)

SNV
Germline

Chr11:108365382

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA196279

rs_786203336

7 SubmittersRCV000166602 RCV001704222 RCV000459874 RCV004552924 RCV004589803

NM_000051.4(ATM):c.9119T>C (p.Ile3040Thr)

SNV
Germline

Chr11:108365456

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA197338

rs_369870357

6 SubmittersRCV000167036 RCV000526903 RCV003156228 RCV004567325

NM_000051.4(ATM):c.72+1G>A

SNV
Germline

Chr11:108227697

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA334106

rs_786204088

7 SubmittersRCV000167987 RCV000777649 RCV004019999 RCV001564314

NM_000051.4(ATM):c.134G>A (p.Arg45Gln)

SNV
Germline

Chr11:108227837

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA334193

rs_762382111

7 SubmittersRCV000217445 RCV000235357 RCV000168047 RCV003468822 RCV004586586

NM_000051.4(ATM):c.928A>G (p.Ser310Gly)

SNV
Germline

Chr11:108246990

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA334063

rs_745773225

9 SubmittersRCV000167964 RCV000219840 RCV003338436 RCV000481289

NM_000051.4(ATM):c.2921+1G>C

SNV
Germline

Chr11:108271147

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA334038

rs_587781558

8 SubmittersRCV000217319 RCV000236109 RCV000167947 RCV003468819

NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn)

SNV
Germline

Chr11:108279501

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Malignant tumor of breast
not specified
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA334286

rs_372966951

10 SubmittersRCV000168114 RCV000590021 RCV000214286 RCV003462257 RCV001354999 RCV001731417 RCV004739548

NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr)

SNV
Germline

Chr11:108289669

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA334280

rs_769980220

8 SubmittersRCV000168111 RCV000780906 RCV000220668 RCV000478130 RCV003468825

NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile)

SNV
Germline

Chr11:108304790

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA334655

rs_538452060

11 SubmittersRCV000168364 RCV000221360 RCV000236794 RCV003468831 RCV004689646

NM_000051.4(ATM):c.3G>A (p.Met1Ile)

SNV
Germline

Chr11:108227627

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA274099

rs_781404312

14 SubmittersRCV000169261 RCV000223021 RCV004020015 RCV000215466 RCV004797788

NM_000051.4(ATM):c.802C>T (p.Gln268Ter)

SNV
Germline

Chr11:108244927

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA274188

rs_557012154

9 SubmittersRCV000169336 RCV000519059 RCV000222842 RCV003468841

NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter)

SNV
Germline

Chr11:108301658

Pathogenic/Likely pathogenic

Gastric cancer
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA334791

rs_764389018

10 SubmittersRCV003162723 RCV000570483 RCV000169451 RCV000657610 RCV003468844

NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)

SNV
Germline

Chr11:108304693

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
ATM-related cancer predisposition

Reviewed By Expert Panel

CA274462

rs_786204751

11 SubmittersRCV000169605 RCV000777919 RCV001310117 RCV001579826 RCV005001013

NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter)

SNV
Germline

Chr11:108304822

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA334788

rs_786204433

15 SubmittersRCV000169043 RCV000235346 RCV003129794 RCV004796061 RCV000213135 RCV003162721

NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter)

SNV
Germline

Chr11:108343260

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome
ATM-related cancer predisposition

Reviewed By Expert Panel

CA334794

rs_778269655

11 SubmittersRCV000169516 RCV003468846 RCV001564923 RCV000579481 RCV005001012

NM_000051.4(ATM):c.8518T>C (p.Leu2840=)

SNV
Germline

Chr11:108345842

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA246478

rs_794727769

5 SubmittersRCV000179200 RCV000563134 RCV001426526 RCV004589833

NM_000051.4(ATM):c.8732C>T (p.Thr2911Ile)

SNV
Germline

Chr11:108353826

Conflicting classifications of pathogenicity

Breast cancer, early-onset
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA203836

rs_794728018

6 SubmittersRCV000181011 RCV000214902 RCV000537344 RCV000486041 RCV002465556

NM_000051.4(ATM):c.140C>G (p.Ser47Ter)

SNV
Germline

Chr11:108227843

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA336635

rs_774185390

3 SubmittersRCV000196694 RCV002390530 RCV003454496

NM_000051.4(ATM):c.748C>T (p.Arg250Ter)

SNV
Germline

Chr11:108244873

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast
Gastric cancer
Familial cancer of breast
ATM-related disorder
ATM-related cancer predisposition

Reviewed By Expert Panel

CA336868

rs_772821016

17 SubmittersRCV000196975 RCV000216766 RCV000479464 RCV001328429 RCV003165463 RCV003468894 RCV004739586 RCV005001014

NM_000051.4(ATM):c.1899-10T>G

SNV
Germline

Chr11:108253804

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA338810

rs_763685190

6 SubmittersRCV000199706 RCV000582294 RCV001355136 RCV001565593 RCV003150083

NM_000051.4(ATM):c.1943T>C (p.Val648Ala)

SNV
Germline

Chr11:108253858

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA335930

rs_141175037

8 SubmittersRCV000195774 RCV000221613 RCV000479071 RCV000780905 RCV003474956

NM_000051.4(ATM):c.2413C>T (p.Arg805Ter)

SNV
Germline/somatic

Chr11:108259022

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of urinary bladder
Breast and/or ovarian cancer
Familial cancer of breast

Reviewed By Expert Panel

CA338870

rs_780619951

19 SubmittersRCV000199790 RCV000221009 RCV000489745 RCV000762818 RCV001030523 RCV003332139 RCV003491940 RCV003468893

NM_000051.4(ATM):c.2480A>G (p.Lys827Arg)

SNV
Germline

Chr11:108267184

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA337420

rs_372230498

6 SubmittersRCV000197770 RCV000218054 RCV003462316

NM_000051.4(ATM):c.2838+9C>G

SNV
Germline

Chr11:108268618

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
ATM-related disorder
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA337973

rs_370160823

6 SubmittersRCV000198514 RCV000579471 RCV004553071 RCV004589847 RCV004700594

NM_000051.4(ATM):c.3153+9T>C

SNV
Germline

Chr11:108272616

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA339555

rs_770464168

4 SubmittersRCV000200790 RCV000777898 RCV003150084 RCV004589850

NM_000051.4(ATM):c.3613C>T (p.Arg1205Cys)

SNV
Germline

Chr11:108282746

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA335899

rs_760928285

8 SubmittersRCV000195728 RCV000479830 RCV000562379 RCV001192418 RCV004786534

NM_000051.4(ATM):c.3843T>G (p.Ser1281Arg)

SNV
Germline

Chr11:108284323

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA338716

rs_863224565

6 SubmittersRCV000199552 RCV000567335 RCV001555609 RCV003462317

NM_000051.4(ATM):c.4109+6T>C

SNV
Germline

Chr11:108287721

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA336807

rs_368606937

7 SubmittersRCV000196920 RCV000588070 RCV000776097 RCV001530925 RCV004589864

NM_000051.4(ATM):c.4437-9C>T

SNV
Germline

Chr11:108292610

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA335706

rs_766003804

10 SubmittersRCV000195466 RCV000433234 RCV000582132 RCV001722111 RCV004553087 RCV004589865

NM_000051.4(ATM):c.5675-4T>A

SNV
Germline

Chr11:108307893

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Malignant tumor of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA336609

rs_56075338

10 SubmittersRCV000214255 RCV000590713 RCV001085879 RCV001355672 RCV004553073

NM_000051.4(ATM):c.6007-5T>C

SNV
Germline

Chr11:108315818

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA338988

rs_863224294

4 SubmittersRCV000199950 RCV001175894 RCV004589854

NM_000051.4(ATM):c.6845A>G (p.Asn2282Ser)

SNV
Germline

Chr11:108326095

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA339436

rs_863224579

5 SubmittersRCV000200616 RCV000567702 RCV001582694 RCV003468901

NM_000051.4(ATM):c.7240C>T (p.Gln2414Ter)

SNV
Germline

Chr11:108329171

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA339145

rs_863224462

3 SubmittersRCV000200187 RCV000492913 RCV004020459

NM_000051.4(ATM):c.7808A>G (p.Asn2603Ser)

SNV
Germline

Chr11:108332781

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Malignant tumor of breast
not specified
Hereditary cancer-predisposing syndrome
Ovarian cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA335994

rs_150355232

8 SubmittersRCV000195852 RCV001357358 RCV001818483 RCV002408879 RCV003153470 RCV003325466

NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser)

SNV
Germline

Chr11:108332899

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA337507

rs_863224440

7 SubmittersRCV000197870 RCV000215938 RCV000420030 RCV001250432

NM_000051.4(ATM):c.7985T>A (p.Val2662Asp)

SNV
Germline

Chr11:108333943

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA339537

rs_863224463

8 SubmittersRCV000200768 RCV001176540 RCV003468895

NM_000051.4(ATM):c.8584+6C>G

SNV
Germline

Chr11:108345914

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA339118

rs_863224300

3 SubmittersRCV000200137 RCV000771942

NM_000051.4(ATM):c.8959G>C (p.Asp2987His)

SNV
Germline

Chr11:108365190

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA338090

rs_863224582

4 SubmittersRCV000198659 RCV002444808 RCV003468903

NM_000051.4(ATM):c.185+1G>A

SNV
Germline

Chr11:108227889

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA349320

rs_112805604

4 SubmittersRCV000205116 RCV002408894 RCV003468943

NM_000051.4(ATM):c.319T>C (p.Cys107Arg)

SNV
Germline

Chr11:108229311

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350592

rs_864622508

2 SubmittersRCV000206572 RCV004686577

NM_000051.4(ATM):c.785T>A (p.Leu262Ter)

SNV
Germline

Chr11:108244910

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA350365

rs_864622163

6 SubmittersRCV000206320 RCV003462368 RCV004948211

NM_000051.4(ATM):c.946T>C (p.Tyr316His)

SNV
Germline

Chr11:108247008

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA348479

rs_142317485

11 SubmittersRCV000204232 RCV000234905 RCV000486900 RCV001818502 RCV003468951

NM_000051.4(ATM):c.1369C>T (p.Arg457Ter)

SNV
Germline

Chr11:108250834

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Abnormal central motor function
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA349954

rs_749036865

11 SubmittersRCV000205849 RCV000493633 RCV000762813 RCV001814115 RCV003322602

NM_000051.4(ATM):c.1511A>G (p.Asn504Ser)

SNV
Germline

Chr11:108250976

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349700

rs_56365018

4 SubmittersRCV000205555 RCV000218923 RCV001778794

NM_000051.4(ATM):c.1584T>C (p.Thr528=)

SNV
Germline

Chr11:108251049

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA348353

rs_864622408

4 SubmittersRCV001012289 RCV001465734 RCV004589884

NM_000051.4(ATM):c.1607+1G>T

SNV
Germline

Chr11:108251073

Pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA348209

rs_772926890

9 SubmittersRCV000203930 RCV000235749 RCV000563715 RCV002221512

NM_000051.4(ATM):c.2127T>G (p.Ile709Met)

SNV
Germline

Chr11:108256217

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA350788

rs_56252953

6 SubmittersRCV000206792 RCV000222064 RCV002243888 RCV003493501

NM_000051.4(ATM):c.2463T>G (p.Ser821Arg)

SNV
Germline

Chr11:108259072

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA349704

rs_864622412

4 SubmittersRCV000205560 RCV001358330 RCV002453740 RCV003468944

NM_000051.4(ATM):c.2879C>A (p.Pro960His)

SNV
Germline

Chr11:108271104

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA350856

rs_587779828

7 SubmittersRCV000206872 RCV000217962 RCV001030526 RCV001174579

NM_000051.4(ATM):c.3077+1G>A

SNV
Germline

Chr11:108271407

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350862

rs_192810283

5 SubmittersRCV000206879 RCV001018496 RCV001531757 RCV004020519

NM_000051.4(ATM):c.3284+1G>A

SNV
Germline

Chr11:108272853

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350813

rs_864622129

6 SubmittersRCV000206819 RCV000220530 RCV000235974 RCV004020504

NM_000051.4(ATM):c.3577-7C>T

SNV
Germline

Chr11:108282703

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA348263

rs_558667657

7 SubmittersRCV000203985 RCV000429730 RCV000579566 RCV001722129 RCV004589893

NM_000051.4(ATM):c.3601T>A (p.Phe1201Ile)

SNV
Germline

Chr11:108282734

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA349153

rs_576884305

9 SubmittersRCV000204970 RCV000567287 RCV000726329 RCV002478738 RCV003462391 RCV004739600

NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter)

SNV
Germline

Chr11:108282796

Pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA350108

rs_864622490

12 SubmittersRCV000206039 RCV000235543 RCV000563523 RCV002478731 RCV003468949

NM_000051.4(ATM):c.3886C>T (p.Pro1296Ser)

SNV
Germline

Chr11:108284366

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350768

rs_864622654

5 SubmittersRCV000206762 RCV000478981 RCV000573505

NM_000051.4(ATM):c.3993G>C (p.Gln1331His)

SNV
Germline

Chr11:108284473

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350344

rs_863224566

4 SubmittersRCV000206293 RCV000221742 RCV000479019 RCV003468966

NM_000051.4(ATM):c.3994-159A>G

SNV
Germline

Chr11:108287441

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA349592

rs_864622543

3 SubmittersRCV000205430 RCV001021603 RCV004701272

NM_000051.4(ATM):c.4588G>T (p.Glu1530Ter)

SNV
Germline

Chr11:108292770

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA349160

rs_864622479

4 SubmittersRCV000204978 RCV001022740 RCV004020529

NM_000051.4(ATM):c.5002C>T (p.Leu1668=)

SNV
Germline

Chr11:108297379

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350792

rs_747317946

11 SubmittersRCV000206796 RCV000565986 RCV001355666 RCV003491959 RCV004589891

NM_000051.4(ATM):c.5320-10T>C

SNV
Germline

Chr11:108302843

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
not specified
Hereditary cancer-predisposing syndrome
ATM-related disorder
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350374

rs_864622731

7 SubmittersRCV000206328 RCV000439365 RCV000777916 RCV004547501 RCV004589901 RCV004998435

NM_000051.4(ATM):c.5375T>C (p.Ile1792Thr)

SNV
Germline

Chr11:108302908

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350670

rs_776309355

7 SubmittersRCV000206668 RCV000566874 RCV001354647 RCV002288821 RCV004786540

NM_000051.4(ATM):c.5410A>T (p.Ile1804Phe)

SNV
Germline

Chr11:108302943

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349227

rs_769872474

8 SubmittersRCV000205064 RCV000570407 RCV001785516

NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys)

SNV
Germline

Chr11:108316030

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Familial cancer of breast
ATM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA348515

rs_864622251

11 SubmittersRCV000204272 RCV000255601 RCV000574550 RCV001270952 RCV003334385 RCV004547473

NM_000051.4(ATM):c.6198+5A>G

SNV
Germline

Chr11:108316118

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA349713

rs_771047560

6 SubmittersRCV000205574 RCV000568174 RCV004589879

NM_000051.4(ATM):c.6318T>C (p.Asn2106=)

SNV
Germline

Chr11:108317492

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350275

rs_864622730

6 SubmittersRCV000206216 RCV000571280 RCV001561845 RCV004589900

NM_000051.4(ATM):c.6348-2A>G

SNV
Germline

Chr11:108319952

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA348351

rs_864622367

3 SubmittersRCV000204096 RCV004020520 RCV004948215

NM_000051.4(ATM):c.6452+5T>A

SNV
Germline

Chr11:108320063

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA349451

rs_533830556

7 SubmittersRCV000205279 RCV000219944 RCV001722120 RCV001798679

NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu)

SNV
Germline

Chr11:108321351

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350774

rs_200431631

12 SubmittersRCV000206774 RCV000216900 RCV000588892 RCV000763709 RCV001268980 RCV004567472

NM_000051.4(ATM):c.7566A>G (p.Gln2522=)

SNV
Germline

Chr11:108331494

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA350418

rs_775621333

7 SubmittersRCV000206378 RCV000483209 RCV000574825 RCV001193662 RCV004589890

NM_000051.4(ATM):c.7789-3T>G

SNV
Germline

Chr11:108332759

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350818

rs_864622185

12 SubmittersRCV000206828 RCV000562166 RCV001270955 RCV001310118 RCV003326373

NM_000051.4(ATM):c.7880A>G (p.Tyr2627Cys)

SNV
Germline

Chr11:108332853

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA348974

rs_767670019

7 SubmittersRCV000204776 RCV000567581 RCV003477687 RCV004547478

NM_000051.4(ATM):c.7928-2A>T

SNV
Germline

Chr11:108333884

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA349800

rs_864622610

2 SubmittersRCV000205665 RCV002415871

NM_000051.4(ATM):c.7996A>G (p.Thr2666Ala)

SNV
Germline

Chr11:108333954

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA349494

rs_745775382

5 SubmittersRCV000205336 RCV000222128 RCV001193061 RCV001356715

NM_000051.4(ATM):c.8988-1G>A

SNV
Germline

Chr11:108365324

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA348186

rs_730881386

13 SubmittersRCV000203896 RCV000440256 RCV000570351 RCV001171410

NM_000051.4(ATM):c.6198+1G>A

SNV
Germline

Chr11:108316114

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Abnormal central motor function
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6265875

rs_778031266

12 SubmittersRCV000222023 RCV000416815 RCV000519640 RCV000668415 RCV001814117 RCV003468967

NM_000051.4(ATM):c.-30-1G>T

SNV
Germline

Chr11:108227594

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA353500

rs_869312754

7 SubmittersRCV000210108 RCV000255796 RCV001171384 RCV002478758

NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter)

SNV
Germline

Chr11:108293436

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA353545

rs_869312755

10 SubmittersRCV000210197 RCV000234068 RCV000255389 RCV004020572

NM_000051.4(ATM):c.5762+1G>T

SNV
Germline

Chr11:108307985

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA353503

rs_869312756

7 SubmittersRCV000210115 RCV000229503 RCV003468971

NM_000051.4(ATM):c.2455T>C (p.Cys819Arg)

SNV
Germline

Chr11:108259064

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6265024

rs_775644968

3 SubmittersRCV000211457 RCV000566647

NM_000051.4(ATM):c.799A>G (p.Thr267Ala)

SNV
Germline

Chr11:108244924

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA10577424

rs_876660962

7 SubmittersRCV000214811 RCV000567197 RCV000818514 RCV002503873

NM_000051.4(ATM):c.2377-6T>A

SNV
Germline

Chr11:108258980

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10577426

rs_876660963

8 SubmittersRCV000468699 RCV000656757 RCV000771210 RCV002288903 RCV004689685

NM_000051.4(ATM):c.3257G>A (p.Arg1086His)

SNV
Germline

Chr11:108272825

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA6265234

rs_769857066

10 SubmittersRCV000213977 RCV000234243 RCV000575194 RCV003463608 RCV002485436 RCV003338472

NM_000051.4(ATM):c.3478G>C (p.Val1160Leu)

SNV
Germline

Chr11:108281070

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265298

rs_567344545

6 SubmittersRCV000218210 RCV000221290 RCV000474968 RCV000780901 RCV002288862

NM_000051.4(ATM):c.49C>A (p.His17Asn)

SNV
Germline

Chr11:108227673

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA6264501

rs_876658161

4 SubmittersRCV000219832 RCV000536856

NM_000051.4(ATM):c.67C>T (p.Arg23Ter)

SNV
Germline

Chr11:108227691

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related cancer predisposition

Reviewed By Expert Panel

CA6264503

rs_746235533

14 SubmittersRCV000215307 RCV000579150 RCV000627840 RCV001310099 RCV005001021

NM_000051.4(ATM):c.69A>G (p.Arg23=)

SNV
Germline

Chr11:108227693

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10578940

rs_876659304

6 SubmittersRCV000221002 RCV000484040 RCV001086703 RCV004589975

NM_000051.4(ATM):c.156A>C (p.Gly52=)

SNV
Germline

Chr11:108227859

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA10578945

rs_876660725

5 SubmittersRCV000222551 RCV001400504 RCV003238744 RCV004591027 RCV004547560

NM_000051.4(ATM):c.172G>T (p.Asp58Tyr)

SNV
Germline

Chr11:108227875

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10578947

rs_876660661

4 SubmittersRCV000222411 RCV000627984 RCV002265695

NM_000051.4(ATM):c.200A>G (p.Tyr67Cys)

SNV
Germline

Chr11:108229192

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6264536

rs_754033733

9 SubmittersRCV000213607 RCV000501575 RCV000556463 RCV001250443 RCV001548023

NM_000051.4(ATM):c.238C>T (p.Pro80Ser)

SNV
Germline

Chr11:108229230

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6264539

rs_750597831

5 SubmittersRCV000222655 RCV000590630 RCV003105829 RCV004567624

NM_000051.4(ATM):c.331+5G>A

SNV
Germline

Chr11:108229328

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6264551

rs_752135143

15 SubmittersRCV000216445 RCV000410500 RCV000761802 RCV002494588 RCV003469016

NM_000051.4(ATM):c.332-1G>A

SNV
Germline

Chr11:108235669

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome

Reviewed By Expert Panel

CA6264590

rs_747855862

7 SubmittersRCV000217634 RCV000480467 RCV002221517 RCV002519688

NM_000051.4(ATM):c.496+1G>A

SNV
Germline

Chr11:108235835

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10578961

rs_876658500

2 SubmittersRCV000220072 RCV001379244

NM_000051.4(ATM):c.496+3A>G

SNV
Germline

Chr11:108235837

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10578962

rs_876658311

8 SubmittersRCV000222498 RCV000509292 RCV000546346 RCV001535556 RCV001420751 RCV003468991

NM_000051.4(ATM):c.497-4T>A

SNV
Germline

Chr11:108243949

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10578963

rs_876659621

4 SubmittersRCV000221208 RCV000543862 RCV002054980

NM_000051.4(ATM):c.753G>A (p.Val251=)

SNV
Germline

Chr11:108244878

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10578975

rs_876658806

7 SubmittersRCV000214576 RCV000461267 RCV003128605 RCV004589944

NM_000051.4(ATM):c.829G>T (p.Glu277Ter)

SNV
Germline

Chr11:108244954

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Gastric cancer
Abnormal central motor function
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10578979

rs_876660933

10 SubmittersRCV000223320 RCV000235851 RCV000669686 RCV003165577 RCV001814123 RCV003469103

NM_000051.4(ATM):c.875C>T (p.Pro292Leu)

SNV
Germline

Chr11:108245000

Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Breast carcinoma
Gastric cancer
Familial cancer of breast

Reviewed By Expert Panel

CA6264689

rs_747727055

16 SubmittersRCV000220769 RCV000255507 RCV000526404 RCV001658022 RCV003165551 RCV003468983

NM_000051.4(ATM):c.901+1G>T

SNV
Germline

Chr11:108245027

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10578981

rs_748840480

5 SubmittersRCV000216527 RCV001379229 RCV003469102

NM_000051.4(ATM):c.1066-1G>A

SNV
Germline

Chr11:108248932

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10578992

rs_876660038

3 SubmittersRCV000223052 RCV002515683 RCV004020679

NM_000051.4(ATM):c.1160A>G (p.Lys387Arg)

SNV
Germline

Chr11:108249027

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA10578996

rs_876659755

2 SubmittersRCV000214673 RCV000701301

NM_000051.4(ATM):c.1396C>T (p.Gln466Ter)

SNV
Germline

Chr11:108250861

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Inherited breast cancer and ovarian cancer
ATM-related cancer predisposition

Reviewed By Expert Panel

CA10579008

rs_876660485

9 SubmittersRCV000221369 RCV000486468 RCV000552755 RCV004020688 RCV004782315 RCV005001022

NM_000051.4(ATM):c.1582A>G (p.Thr528Ala)

SNV
Germline

Chr11:108251047

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA10579015

rs_876658647

3 SubmittersRCV000220780 RCV001318667

NM_000051.4(ATM):c.1608-3T>C

SNV
Germline

Chr11:108251834

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6264852

rs_774196176

7 SubmittersRCV000220922 RCV000538430 RCV001705209 RCV001804954 RCV004589928

NM_000051.4(ATM):c.1702A>G (p.Arg568Gly)

SNV
Germline

Chr11:108251931

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA10579021

rs_876659425

6 SubmittersRCV000213694 RCV000821518 RCV003462480 RCV004547546

NM_000051.4(ATM):c.1931C>A (p.Ser644Ter)

SNV
Germline

Chr11:108253846

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579032

rs_768362387

8 SubmittersRCV000222313 RCV000482158 RCV000576759 RCV000762815 RCV003235146 RCV004020689

NM_000051.4(ATM):c.1935C>T (p.Phe645=)

SNV
Germline

Chr11:108253850

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579033

rs_876659709

4 SubmittersRCV000219027 RCV001488487 RCV004590983

NM_000051.4(ATM):c.2023C>T (p.Gln675Ter)

SNV
Germline/somatic

Chr11:108253938

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Malignant tumor of urinary bladder

Criteria Provided
Multiple Submitters
No Conflicts

CA6264916

rs_777849257

9 SubmittersRCV000215540 RCV000255863 RCV000411314 RCV001293971 RCV003332147

NM_000051.4(ATM):c.2251-1G>C

SNV
Germline

Chr11:108257480

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579044

rs_876659710

3 SubmittersRCV000223310 RCV000464660 RCV004020675

NM_000051.4(ATM):c.2497G>T (p.Gly833Ter)

SNV
Germline

Chr11:108267201

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Breast carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA10579056

rs_876658804

3 SubmittersRCV000218015 RCV001071603 RCV001554334

NM_000051.4(ATM):c.2500G>T (p.Glu834Ter)

SNV
Germline

Chr11:108267204

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579057

rs_876660430

4 SubmittersRCV000218880 RCV000544182 RCV003469080

NM_000051.4(ATM):c.2539A>T (p.Met847Leu)

SNV
Germline

Chr11:108267243

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA10579059

rs_587779823

3 SubmittersRCV000216310 RCV000545371

NM_000051.4(ATM):c.2552A>G (p.Asp851Gly)

SNV
Germline

Chr11:108267256

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA6265058

rs_748203812

7 SubmittersRCV000216103 RCV000234621 RCV000478364 RCV002485433

NM_000051.4(ATM):c.2569C>G (p.Leu857Val)

SNV
Germline

Chr11:108267273

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA10579062

rs_876659486

5 SubmittersRCV000215421 RCV000236914 RCV001221171 RCV002478797

NM_000051.4(ATM):c.2590A>G (p.Ser864Gly)

SNV
Germline

Chr11:108267294

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA6265064

rs_764842086

3 SubmittersRCV000220289 RCV001325433

NM_000051.4(ATM):c.2638+3A>G

SNV
Germline

Chr11:108267345

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579064

rs_876660552

5 SubmittersRCV000218625 RCV000558132 RCV001722199

NM_000051.4(ATM):c.2672C>G (p.Ser891Ter)

SNV
Germline

Chr11:108268443

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579065

rs_876660780

7 SubmittersRCV000218040 RCV000697837 RCV000657742 RCV003463596

NM_000051.4(ATM):c.2744C>A (p.Thr915Asn)

SNV
Germline

Chr11:108268515

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA10579068

rs_876660912

3 SubmittersRCV000221056 RCV000487139 RCV001218202

NM_000051.4(ATM):c.2838+4A>G

SNV
Germline

Chr11:108268613

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579072

rs_876659907

7 SubmittersRCV000222111 RCV000779800 RCV001215325 RCV004547551 RCV003462502

NM_000051.4(ATM):c.2922C>T (p.Ser974=)

SNV
Germline

Chr11:108271251

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA10579076

rs_758045139

5 SubmittersRCV000216505 RCV000435669 RCV001038165 RCV004760443

NM_000051.4(ATM):c.2930G>A (p.Cys977Tyr)

SNV
Germline

Chr11:108271259

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579077

rs_876660628

5 SubmittersRCV000218833 RCV000232860 RCV001582756

NM_000051.4(ATM):c.3077+4G>A

SNV
Germline

Chr11:108271410

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Malignant tumor of breast
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265179

rs_201222237

12 SubmittersRCV000213394 RCV000430951 RCV000988671 RCV001355758 RCV004547547 RCV004589979

NM_000051.4(ATM):c.3078-1G>A

SNV
Germline

Chr11:108272531

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Reviewed By Expert Panel

CA6265193

rs_750663117

8 SubmittersRCV000219914 RCV000410565 RCV000482905 RCV003462457

NM_000051.4(ATM):c.3078G>T (p.Trp1026Cys)

SNV
Germline

Chr11:108272532

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10579081

rs_876660869

6 SubmittersRCV000219464 RCV001268471 RCV000704906 RCV003469101 RCV004760450

NM_000051.4(ATM):c.3190A>G (p.Met1064Val)

SNV
Germline

Chr11:108272758

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA6265222

rs_79431304

9 SubmittersRCV000214272 RCV001546529 RCV000671975 RCV003468979 RCV003153495

NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys)

SNV
Germline

Chr11:108272824

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Hereditary cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265233

rs_201780199

10 SubmittersRCV000220781 RCV000462986 RCV000757014 RCV003330592 RCV003491988 RCV003469092

NM_000051.4(ATM):c.3283A>C (p.Arg1095=)

SNV
Germline

Chr11:108272851

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA10579093

rs_876660302

4 SubmittersRCV000213488 RCV000237018 RCV000822256

NM_000051.4(ATM):c.3285-5T>C

SNV
Germline

Chr11:108279486

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579094

rs_876659715

4 SubmittersRCV000214287 RCV001417887 RCV004590984

NM_000051.4(ATM):c.3341A>G (p.Lys1114Arg)

SNV
Germline

Chr11:108279547

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579099

rs_777705500

4 SubmittersRCV000221075 RCV000524647 RCV000481285

NM_000051.4(ATM):c.3365A>G (p.Asn1122Ser)

SNV
Germline

Chr11:108279571

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA6265269

rs_745863765

3 SubmittersRCV000219389 RCV000478505 RCV001853542

NM_000051.4(ATM):c.3382C>G (p.Gln1128Glu)

SNV
Germline

Chr11:108279588

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA10579103

rs_876659825

5 SubmittersRCV000219396 RCV000695904

NM_000051.4(ATM):c.3511C>T (p.Gln1171Ter)

SNV
Germline

Chr11:108281103

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579109

rs_876659067

6 SubmittersRCV000213580 RCV000802075 RCV003155932

NM_000051.4(ATM):c.3576+1G>A

SNV
Germline

Chr11:108281169

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10579114

rs_876660621

2 SubmittersRCV000217092 RCV003500519

NM_000051.4(ATM):c.3746+5G>A

SNV
Germline

Chr11:108282884

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579121

rs_876658419

4 SubmittersRCV000215462 RCV000550255 RCV003462426

NM_000051.4(ATM):c.3817A>G (p.Asn1273Asp)

SNV
Germline

Chr11:108284297

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579122

rs_876660767

3 SubmittersRCV000221928 RCV000627863 RCV001770185

NM_000051.4(ATM):c.3982T>C (p.Leu1328=)

SNV
Germline

Chr11:108284462

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579130

rs_876658204

7 SubmittersRCV000218295 RCV000952246 RCV001658023 RCV003150117 RCV004589914

NM_000051.4(ATM):c.4092C>A (p.Asp1364Glu)

SNV
Germline

Chr11:108287698

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579133

rs_876660956

4 SubmittersRCV000218537 RCV002516183 RCV004567673

NM_000051.4(ATM):c.4145C>T (p.Pro1382Leu)

SNV
Germline

Chr11:108289012

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA6265409

rs_752460436

4 SubmittersRCV000217705 RCV000779766 RCV000805982

NM_000051.4(ATM):c.4196C>G (p.Thr1399Ser)

SNV
Germline

Chr11:108289063

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA10579137

rs_786203761

8 SubmittersRCV000215942 RCV000473821 RCV000486909 RCV003462488 RCV003491980

NM_000051.4(ATM):c.4236+1G>T

SNV
Germline

Chr11:108289104

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial prostate cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579139

rs_876660674

6 SubmittersRCV000220335 RCV000628077 RCV002469081 RCV004020692

NM_000051.4(ATM):c.4437-5A>G

SNV
Germline

Chr11:108292614

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579150

rs_876658290

5 SubmittersRCV000221017 RCV001454607 RCV004589919 RCV004998443

NM_000051.4(ATM):c.4437-1G>C

SNV
Germline

Chr11:108292618

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6265475

rs_759520465

8 SubmittersRCV000216400 RCV000486776 RCV000530451 RCV003469042

NM_000051.4(ATM):c.4468A>G (p.Ser1490Gly)

SNV
Germline

Chr11:108292650

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA10579151

rs_876658711

9 SubmittersRCV000218371 RCV000487259 RCV000555359 RCV002247648 RCV002500725 RCV004589937 RCV004547534

NM_000051.4(ATM):c.4576C>T (p.Pro1526Ser)

SNV
Germline

Chr11:108292758

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA10579155

rs_748898098

3 SubmittersRCV000213546 RCV000824580

NM_000051.4(ATM):c.4612-4T>G

SNV
Germline

Chr11:108293309

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265519

rs_569983068

7 SubmittersRCV000222370 RCV000539535 RCV001596995 RCV003493514 RCV004589942

NM_000051.4(ATM):c.5319+1G>A

SNV
Germline

Chr11:108301790

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10579177

rs_876660175

2 SubmittersRCV000214126 RCV002519724

NM_000051.4(ATM):c.5319+3C>A

SNV
Germline

Chr11:108301792

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA6265670

rs_371640963

6 SubmittersRCV000222959 RCV000838632 RCV000628003 RCV004589970 RCV004547542

NM_000051.4(ATM):c.5456C>T (p.Thr1819Ile)

SNV
Germline

Chr11:108302989

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6265701

rs_760060843

5 SubmittersRCV000219062 RCV000485146 RCV000544430 RCV001818530

NM_000051.4(ATM):c.5497-1G>A

SNV
Germline

Chr11:108304674

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10579182

rs_876660245

7 SubmittersRCV000220437 RCV000254723 RCV003469067 RCV001853622

NM_000051.4(ATM):c.5618G>A (p.Cys1873Tyr)

SNV
Germline

Chr11:108304796

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579188

rs_587782239

5 SubmittersRCV000222325 RCV000627966 RCV000587287 RCV003469066

NM_000051.4(ATM):c.5675-3C>G

SNV
Germline

Chr11:108307894

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA10579192

rs_876658545

2 SubmittersRCV000222311 RCV000803771

NM_000051.4(ATM):c.5703G>A (p.Leu1901=)

SNV
Germline

Chr11:108307925

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA6265760

rs_756979112

2 SubmittersRCV000222670 RCV003765435

NM_000051.4(ATM):c.5763-2A>C

SNV
Germline

Chr11:108310158

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579195

rs_876659489

3 SubmittersRCV000216373 RCV003605611 RCV004020674

NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter)

SNV
Germline

Chr11:108310195

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579198

rs_876658740

8 SubmittersRCV000218884 RCV000409971 RCV000627198 RCV003469013

NM_000051.4(ATM):c.5919-2A>G

SNV
Germline

Chr11:108312409

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6265805

rs_746623393

5 SubmittersRCV000216360 RCV000665828 RCV003468989

NM_000051.4(ATM):c.5956A>G (p.Ile1986Val)

SNV
Germline

Chr11:108312448

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579202

rs_876660935

6 SubmittersRCV000222930 RCV000234260 RCV000235262

NM_000051.4(ATM):c.6056A>G (p.Tyr2019Cys)

SNV
Germline

Chr11:108315872

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10579205

rs_876658415

5 SubmittersRCV000216689 RCV000543617 RCV001251347 RCV004701282

NM_000051.4(ATM):c.6082C>T (p.Gln2028Ter)

SNV
Germline

Chr11:108315898

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579207

rs_876659454

5 SubmittersRCV000213485 RCV000666075 RCV004020673

NM_000051.4(ATM):c.6226A>G (p.Ile2076Val)

SNV
Germline

Chr11:108317400

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA6265897

rs_755973863

11 SubmittersRCV000217659 RCV000456769 RCV002288898 RCV002494598 RCV003441803 RCV003488480 RCV004739622

NM_000051.4(ATM):c.6246A>G (p.Lys2082=)

SNV
Germline

Chr11:108317420

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6265899

rs_745977589

4 SubmittersRCV000217091 RCV000537363 RCV004998474

NM_000051.4(ATM):c.6303A>G (p.Gln2101=)

SNV
Germline

Chr11:108317477

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579218

rs_876659325

3 SubmittersRCV000219895 RCV001222275 RCV004589976

NM_000051.4(ATM):c.6338C>G (p.Thr2113Ser)

SNV
Germline

Chr11:108317512

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6265906

rs_573290117

7 SubmittersRCV000221486 RCV000533728 RCV001174836 RCV003227722 RCV004725094

NM_000051.4(ATM):c.6367A>G (p.Ser2123Gly)

SNV
Germline

Chr11:108319973

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10579220

rs_876659773

5 SubmittersRCV000219988 RCV000627902 RCV001818534

NM_000051.4(ATM):c.6385T>G (p.Tyr2129Asp)

SNV
Germline

Chr11:108319991

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA10579221

rs_876658542

2 SubmittersRCV000219813 RCV000449493

NM_000051.4(ATM):c.6397C>T (p.Gln2133Ter)

SNV
Germline

Chr11:108320003

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579222

rs_876658163

5 SubmittersRCV000219604 RCV000472831 RCV000657712 RCV003468981

NM_000051.4(ATM):c.6443A>G (p.Lys2148Arg)

SNV
Germline

Chr11:108320049

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265935

rs_730881382

7 SubmittersRCV000218229 RCV000274807 RCV000529492 RCV004556772

NM_000051.4(ATM):c.6475T>G (p.Cys2159Gly)

SNV
Germline

Chr11:108321323

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA6265955

rs_150408832

10 SubmittersRCV000220825 RCV000554683 RCV000587154 RCV003469006 RCV003483577

NM_000051.4(ATM):c.6577G>A (p.Val2193Ile)

SNV
Germline

Chr11:108325314

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA6265988

rs_754555043

4 SubmittersRCV000215163 RCV000235792 RCV000461049

NM_000051.4(ATM):c.6975G>C (p.Ala2325=)

SNV
Germline

Chr11:108326225

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Malignant tumor of breast
not specified
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA10579244

rs_556778314

14 SubmittersRCV000215860 RCV000481810 RCV000538344 RCV000764940 RCV001354654 RCV003235145 RCV004020683 RCV004739617

NM_000051.4(ATM):c.6975+4T>A

SNV
Germline

Chr11:108326229

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579245

rs_876660240

3 SubmittersRCV000214086 RCV001059044 RCV004591010

NM_000051.4(ATM):c.6975+5G>T

SNV
Germline

Chr11:108326230

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA6266037

rs_575354684

9 SubmittersRCV000223599 RCV000525908 RCV002472972 RCV003469039 RCV004701287

NM_000051.4(ATM):c.7189C>T (p.Gln2397Ter)

SNV
Germline

Chr11:108329120

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10579253

rs_747372355

2 SubmittersRCV000219784 RCV000808849

NM_000051.4(ATM):c.7370A>C (p.Glu2457Ala)

SNV
Germline

Chr11:108330276

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA6266104

rs_778482902

7 SubmittersRCV000218733 RCV000485580 RCV000701716 RCV003338466

NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp)

SNV
Germline

Chr11:108330314

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579258

rs_876659365

6 SubmittersRCV000220077 RCV000528764 RCV002247654

NM_000051.4(ATM):c.7487G>A (p.Gly2496Glu)

SNV
Germline

Chr11:108330393

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA6266113

rs_764478418

5 SubmittersRCV000215037 RCV001042097 RCV003153502

NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser)

SNV
Germline

Chr11:108330408

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6266116

rs_531617441

15 SubmittersRCV000222504 RCV000233636 RCV000486420 RCV000764945 RCV001818535 RCV003338468

NM_000051.4(ATM):c.7516-4G>T

SNV
Germline

Chr11:108331440

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA10579259

rs_876660105

2 SubmittersRCV000216914 RCV002054988

NM_000051.4(ATM):c.7622T>G (p.Leu2541Arg)

SNV
Germline

Chr11:108331550

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA10579264

rs_876658933

4 SubmittersRCV000222572 RCV001200383 RCV003500513

NM_000051.4(ATM):c.7630-3C>T

SNV
Germline

Chr11:108331876

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579265

rs_587782448

5 SubmittersRCV000217123 RCV000689792 RCV001697248 RCV003468995

NM_000051.4(ATM):c.7928-4A>C

SNV
Germline

Chr11:108333882

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA10579275

rs_876658629

3 SubmittersRCV000217382 RCV001393345

NM_000051.4(ATM):c.8072G>A (p.Arg2691His)

SNV
Germline

Chr11:108335030

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA10579281

rs_876658385

8 SubmittersRCV000218643 RCV000236137 RCV000628082 RCV000764948 RCV004567513 RCV004547528

NM_000051.4(ATM):c.8105T>G (p.Ile2702Arg)

SNV
Germline

Chr11:108335063

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10579282

rs_876659735

3 SubmittersRCV000215525 RCV000800002

NM_000051.4(ATM):c.8211A>T (p.Thr2737=)

SNV
Germline

Chr11:108335904

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579288

rs_876660946

7 SubmittersRCV000219301 RCV000979478 RCV003320462 RCV004591040

NM_000051.4(ATM):c.8218C>T (p.Gln2740Ter)

SNV
Germline/somatic

Chr11:108335911

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Malignant tumor of urinary bladder

Criteria Provided
Multiple Submitters
No Conflicts

CA10579289

rs_866402530

3 SubmittersRCV000220128 RCV000525053 RCV003332149

NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile)

SNV
Germline

Chr11:108335939

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
not specified
Familial cancer of breast
Breast and/or ovarian cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6266322

rs_779145081

11 SubmittersRCV000223476 RCV000347894 RCV001030605 RCV001526927 RCV003469000 RCV003491969 RCV003441794

NM_000051.4(ATM):c.8268+1G>T

SNV
Germline

Chr11:108335962

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Malignant tumor of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579293

rs_876658957

7 SubmittersRCV000220293 RCV000988734 RCV003469024 RCV003235141

NM_000051.4(ATM):c.8287C>T (p.Arg2763Ter)

SNV
Germline

Chr11:108343240

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579294

rs_876659872

7 SubmittersRCV000214803 RCV000538433 RCV001531760 RCV004020676

NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr)

SNV
Germline

Chr11:108343280

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA6266352

rs_746475628

11 SubmittersRCV000217725 RCV000229175 RCV000478838 RCV003468980 RCV001818515

NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter)

SNV
Germline

Chr11:108345873

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10579304

rs_876658716

11 SubmittersRCV000215215 RCV000526852 RCV000519674 RCV003469011 RCV004668855

NM_000051.4(ATM):c.8565T>G (p.Ser2855Arg)

SNV
Germline

Chr11:108345889

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6266379

rs_780905851

7 SubmittersRCV000220309 RCV000695412 RCV002264921 RCV003469029 RCV003483578

NM_000051.4(ATM):c.8584+1G>A

SNV
Germline

Chr11:108345909

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10579306

rs_876658182

3 SubmittersRCV000213099 RCV000628104 RCV004596114

NM_000051.4(ATM):c.8737G>T (p.Asp2913Tyr)

SNV
Germline

Chr11:108353831

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579315

rs_756899044

5 SubmittersRCV000221292 RCV000802642 RCV003316210

NM_000051.4(ATM):c.8851-3T>G

SNV
Germline

Chr11:108365079

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6266483

rs_748874219

5 SubmittersRCV000222144 RCV000399889 RCV002281068

NM_000051.4(ATM):c.8950C>A (p.Leu2984Met)

SNV
Germline

Chr11:108365181

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA6266495

rs_747445236

3 SubmittersRCV000219819 RCV000691686

NM_000051.4(ATM):c.8987+5G>C

SNV
Germline

Chr11:108365223

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA10579329

rs_876660570

3 SubmittersRCV000220961 RCV001245673

NM_000051.4(ATM):c.9002G>A (p.Ser3001Asn)

SNV
Germline

Chr11:108365339

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579331

rs_587781413

11 SubmittersRCV000217769 RCV000555618 RCV000994721 RCV001193665 RCV002478796 RCV004567583

NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter)

SNV
Germline

Chr11:108365356

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Clear cell carcinoma of kidney
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10579335

rs_876660382

11 SubmittersRCV000222768 RCV000233073 RCV000255661 RCV001854694 RCV004020686

NM_000051.4(ATM):c.9049C>T (p.Leu3017=)

SNV
Germline

Chr11:108365386

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10579339

rs_876658991

5 SubmittersRCV000223235 RCV000479815 RCV001084757 RCV004589956

NM_000051.4(ATM):c.672G>T (p.Lys224Asn)

SNV
Germline

Chr11:108244797

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6264664

rs_769731317

3 SubmittersRCV000227220 RCV000582502

NM_000051.4(ATM):c.1240C>T (p.Gln414Ter)

SNV
Germline

Chr11:108250705

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10582793

rs_866521873

6 SubmittersRCV000230144 RCV000579465 RCV003463627

NM_000051.4(ATM):c.1468A>G (p.Ile490Val)

SNV
Germline

Chr11:108250933

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6264818

rs_761850075

5 SubmittersRCV000227312 RCV001011720 RCV003469120

NM_000051.4(ATM):c.1642A>G (p.Thr548Ala)

SNV
Germline

Chr11:108251871

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
not specified

Criteria Provided
Conflicting Classifications

CA10582796

rs_878853486

6 SubmittersRCV000230533 RCV000575956 RCV001770186 RCV001798728 RCV001174987

NM_000051.4(ATM):c.2075G>A (p.Arg692His)

SNV
Germline

Chr11:108253990

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6264924

rs_751515818

6 SubmittersRCV000228332 RCV001014336 RCV003343712

NM_000051.4(ATM):c.2222A>G (p.Tyr741Cys)

SNV
Germline

Chr11:108256312

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA10582802

rs_878853492

10 SubmittersRCV000226596 RCV000572488 RCV000589621 RCV003469123 RCV003491991

NM_000051.4(ATM):c.2250+7G>A

SNV
Germline

Chr11:108256347

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
ATM-related disorder
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10582803

rs_752009031

4 SubmittersRCV000229375 RCV004739626 RCV004591048 RCV003482245

NM_000051.4(ATM):c.2466+2T>A

SNV
Germline

Chr11:108259077

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10582805

rs_878853495

2 SubmittersRCV000234163

NM_000051.4(ATM):c.2467-7C>T

SNV
Germline

Chr11:108267164

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265046

rs_768850329

10 SubmittersRCV000587579 RCV000579933 RCV001080098 RCV001354655 RCV004591050

NM_000051.4(ATM):c.3577-6G>A

SNV
Germline

Chr11:108282704

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA6265323

rs_56006345

8 SubmittersRCV000232908 RCV000588724 RCV000580514 RCV004591055 RCV003150987

NM_000051.4(ATM):c.3614G>A (p.Arg1205His)

SNV
Germline

Chr11:108282747

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6265325

rs_769106895

8 SubmittersRCV000227875 RCV000486877 RCV000569109 RCV001030527 RCV001818551

NM_000051.4(ATM):c.3747-10C>G

SNV
Germline

Chr11:108284217

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10582812

rs_775274473

3 SubmittersRCV000227510 RCV000583321

NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter)

SNV
Germline

Chr11:108289761

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Malignant tumor of breast
Familial cancer of breast
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA6265441

rs_730881369

14 SubmittersRCV000227538 RCV000445657 RCV000657608 RCV000762821 RCV001356094 RCV003463629 RCV003165589

NM_000051.4(ATM):c.4436+10A>G

SNV
Germline

Chr11:108289811

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10582817

rs_878853509

6 SubmittersRCV000230380 RCV000429871 RCV000582282 RCV004591058

NM_000051.4(ATM):c.4825A>G (p.Thr1609Ala)

SNV
Germline

Chr11:108294975

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6265562

rs_761197886

3 SubmittersRCV000226566 RCV000573693 RCV004701303

NM_000051.4(ATM):c.5144T>C (p.Leu1715Pro)

SNV
Germline

Chr11:108299852

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265633

rs_747800057

8 SubmittersRCV000233443 RCV000481313 RCV000579553 RCV003469127

NM_000051.4(ATM):c.5549T>A (p.Leu1850Ter)

SNV
Germline

Chr11:108304727

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

CA10582832

rs_878853525

1 SubmittersRCV000226649

NM_000051.4(ATM):c.6891A>G (p.Gln2297=)

SNV
Germline

Chr11:108326141

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6266028

rs_773545588

3 SubmittersRCV000229076 RCV000567078

NM_000051.4(ATM):c.7563C>G (p.Tyr2521Ter)

SNV
Germline

Chr11:108331491

Pathogenic

Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10582854

rs_772228129

3 SubmittersRCV000230138 RCV004689687 RCV004020738

NM_000051.4(ATM):c.7788G>T (p.Glu2596Asp)

SNV
Germline

Chr11:108332037

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10582857

rs_587780639

2 SubmittersRCV000227156 RCV003454687

NM_000051.4(ATM):c.8011-6T>G

SNV
Germline

Chr11:108334963

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6266263

rs_762092284

5 SubmittersRCV000234012 RCV000481088 RCV000776130 RCV001171475

NM_000051.4(ATM):c.8268+6T>A

SNV
Germline

Chr11:108335967

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6266326

rs_747153940

5 SubmittersRCV000229843 RCV000584183 RCV001697224 RCV004689688

NM_000051.4(ATM):c.8391T>C (p.Ser2797=)

SNV
Germline

Chr11:108343344

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
not specified
Hereditary cancer-predisposing syndrome
ATM-related disorder
Endometrial carcinoma
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6266355

rs_566485657

11 SubmittersRCV000233368 RCV000423464 RCV000573042 RCV004547578 RCV001357039 RCV003491992 RCV004591076

NM_000051.4(ATM):c.8993T>C (p.Ile2998Thr)

SNV
Germline

Chr11:108365330

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6266514

rs_778670498

9 SubmittersRCV000227223 RCV000569551 RCV000590595 RCV002057232 RCV003153520

NM_000051.4(ATM):c.1096A>G (p.Ile366Val)

SNV
Germline

Chr11:108248963

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA10584320

rs_879254198

5 SubmittersRCV000235318 RCV000472191 RCV000563082 RCV000780895 RCV004739640

NM_000051.4(ATM):c.1099T>C (p.Ser367Pro)

SNV
Germline

Chr11:108248966

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10584321

rs_879254236

3 SubmittersRCV000236390 RCV001857816 RCV004678655

NM_000051.4(ATM):c.1112C>T (p.Thr371Ile)

SNV
Germline

Chr11:108248979

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10584322

rs_879254289

7 SubmittersRCV000236757 RCV000460140 RCV000565895

NM_000051.4(ATM):c.1463G>A (p.Trp488Ter)

SNV
Germline

Chr11:108250928

Pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10584324

rs_879254093

8 SubmittersRCV000236088 RCV000476772 RCV001689762 RCV004020929

NM_000051.4(ATM):c.1918A>T (p.Lys640Ter)

SNV
Germline

Chr11:108253833

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10584327

rs_879254190

5 SubmittersRCV000237008 RCV001013694 RCV001221172 RCV002494679 RCV004020934

NM_000051.4(ATM):c.2251-7A>G

SNV
Germline

Chr11:108257474

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10584330

rs_879254103

4 SubmittersRCV000237040 RCV001078625 RCV004725124 RCV004591094

NM_000051.4(ATM):c.2636T>C (p.Ile879Thr)

SNV
Germline

Chr11:108267340

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265070

rs_746265230

7 SubmittersRCV000235396 RCV000456860 RCV000562612 RCV002288935

NM_000051.4(ATM):c.4109+1G>T

SNV
Germline

Chr11:108287716

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10584341

rs_879254034

6 SubmittersRCV000235964 RCV002321904 RCV001378173 RCV003469183

NM_000051.4(ATM):c.4631A>G (p.Tyr1544Cys)

SNV
Germline

Chr11:108293332

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA6265523

rs_779718362

14 SubmittersRCV000236361 RCV000471874 RCV000566756 RCV000780886 RCV003469180 RCV004739639

NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter)

SNV
Germline/somatic

Chr11:108302947

Pathogenic/Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA10584348

rs_879254171

7 SubmittersRCV000235544 RCV000674524 RCV001182325 RCV004020932 RCV004668871

NM_000051.4(ATM):c.5496+1G>A

SNV
Germline

Chr11:108303030

Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10584350

rs_879254180

3 SubmittersRCV000235522 RCV001071525 RCV002347927

NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter)

SNV
Germline

Chr11:108304751

Pathogenic/Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10584352

rs_879254076

6 SubmittersRCV000236378 RCV000628037 RCV002347925 RCV004020927

NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter)

SNV
Germline

Chr11:108304801

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Breast cancer, susceptibility to

Criteria Provided
Multiple Submitters
No Conflicts

CA6265737

rs_376603775

13 SubmittersRCV000236653 RCV000493350 RCV000540911 RCV001257477 RCV001258120

NM_000051.4(ATM):c.6975+2T>C

SNV
Germline

Chr11:108326227

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10584360

rs_879254199

5 SubmittersRCV000235948 RCV000582576 RCV004020935 RCV003605616

NM_000051.4(ATM):c.7449G>A (p.Trp2483Ter)

SNV
Germline

Chr11:108330355

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6266108

rs_773516672

7 SubmittersRCV000236176 RCV000573086 RCV001203956 RCV003469182

NM_000051.4(ATM):c.7515+19A>T

SNV
Germline

Chr11:108330440

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA10584367

rs_879254202

3 SubmittersRCV000236521 RCV000584377 RCV003765483

NM_000051.4(ATM):c.8265T>G (p.Tyr2755Ter)

SNV
Germline

Chr11:108335958

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10584371

rs_758654836

4 SubmittersRCV000237049 RCV002429152 RCV001854865 RCV004020930

NM_000051.4(ATM):c.193C>T (p.Gln65Ter)

SNV
Germline

Chr11:108229185

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Breast carcinoma
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10588487

rs_775248597

7 SubmittersRCV000254811 RCV000850055 RCV001640592 RCV001859488 RCV003469204

NM_000051.4(ATM):c.601C>T (p.Gln201Ter)

SNV
Germline

Chr11:108244057

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Endometrial carcinoma
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10588488

rs_886039666

9 SubmittersRCV000255049 RCV000572239 RCV000628178 RCV003128156 RCV003463721

NM_000051.4(ATM):c.1692T>A (p.Cys564Ter)

SNV
Germline

Chr11:108251921

Pathogenic/Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10588490

rs_886039644

5 SubmittersRCV000255429 RCV001383509 RCV003298329 RCV004021035

NM_000051.4(ATM):c.2147T>A (p.Val716Asp)

SNV
Germline

Chr11:108256237

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA10588493

rs_864622294

3 SubmittersRCV000255958 RCV002429195 RCV002521852

NM_000051.4(ATM):c.2583C>A (p.Tyr861Ter)

SNV
Germline

Chr11:108267287

Pathogenic/Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10588494

rs_886039633

5 SubmittersRCV000255920 RCV000797050 RCV003469202

NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter)

SNV
Germline

Chr11:108284236

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Malignant tumor of prostate
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10588496

rs_886039637

8 SubmittersRCV000255522 RCV000569538 RCV000665264 RCV002272199 RCV003469203

NM_000051.4(ATM):c.5192C>G (p.Ser1731Ter)

SNV
Germline

Chr11:108301662

Pathogenic/Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA10588504

rs_886039627

3 SubmittersRCV000255692 RCV002521856 RCV004021032

NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter)

SNV
Germline

Chr11:108332765

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Gastric cancer
Familial cancer of breast
ATM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA6266193

rs_138941496

9 SubmittersRCV000256020 RCV000564573 RCV000705286 RCV000763225 RCV003165701 RCV003463716 RCV004547649

NM_000051.4(ATM):c.8851-2A>G

SNV
Germline

Chr11:108365080

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10588513

rs_886039647

3 SubmittersRCV000255950 RCV002446500 RCV002518767

NM_000051.4(ATM):c.663-2A>G

SNV
Germline

Chr11:108244786

Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10603087

rs_886041931

4 SubmittersRCV000387350 RCV000669607 RCV002374450

NM_000051.4(ATM):c.8672-1G>C

SNV
Germline

Chr11:108353765

Pathogenic/Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10603097

rs_876660088

2 SubmittersRCV000320277 RCV001855068

NM_000051.4(ATM):c.6095+5A>G

SNV
Germline

Chr11:108315916

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA10629783

rs_757328753

5 SubmittersRCV000262597 RCV001024887 RCV004591117

NM_000051.4(ATM):c.4977A>T (p.Ile1659=)

SNV
Germline

Chr11:108297354

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10633318

rs_199888434

4 SubmittersRCV000370171 RCV003584589 RCV004999272

NM_000051.4(ATM):c.*236C>T

SNV
Germline

Chr11:108365744

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10633321

rs_3092834

2 SubmittersRCV000355715 RCV001556529

NM_000051.4(ATM):c.2251-14T>A

SNV
Germline

Chr11:108257467

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA6264986

rs_751677125

2 SubmittersRCV000359116

NM_000051.4(ATM):c.4299T>C (p.Tyr1433=)

SNV
Germline

Chr11:108289664

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10637003

rs_886047612

3 SubmittersRCV000407516 RCV000561705

NM_000051.4(ATM):c.*2607T>C

SNV
Germline

Chr11:108368115

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10637025

rs_879796523

2 SubmittersRCV000389888 RCV002292514

NM_000051.4(ATM):c.660G>A (p.Ala220=)

SNV
Germline

Chr11:108244116

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6264642

rs_763669136

7 SubmittersRCV000388037 RCV000776382 RCV001706450 RCV004591115

NM_000051.4(ATM):c.877A>T (p.Lys293Ter)

SNV
Germline

Chr11:108245002

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16041383

rs_1057516442

3 SubmittersRCV000411113 RCV004022135

NM_000051.4(ATM):c.1803-2A>G

SNV
Germline

Chr11:108252815

Likely pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16041386

rs_1057517358

10 SubmittersRCV000411840 RCV001573871 RCV002411275 RCV003475972

NM_000051.4(ATM):c.2135C>G (p.Ser712Ter)

SNV
Germline/somatic

Chr11:108256225

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA16041389

rs_1057516620

4 SubmittersRCV000412348 RCV002418228 RCV004668911

NM_000051.4(ATM):c.2377-2A>G

SNV
Germline

Chr11:108258984

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16041391

rs_1057516553

5 SubmittersRCV000411480 RCV000568118 RCV003463794

NM_000051.4(ATM):c.2542G>T (p.Glu848Ter)

SNV
Germline

Chr11:108267246

Likely pathogenic

Ataxia-telangiectasia syndrome
Gastric cancer

Criteria Provided
Single Submitter

CA16041393

rs_879254046

2 SubmittersRCV000409865 RCV003168591

NM_000051.4(ATM):c.2877C>G (p.Tyr959Ter)

SNV
Germline

Chr11:108271102

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA16041395

rs_1057517253

3 SubmittersRCV000409221 RCV003168595

NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter)

SNV
Germline

Chr11:108281133

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16041401

rs_1057516981

7 SubmittersRCV000412416 RCV000582272 RCV003470342

NM_000051.4(ATM):c.3577-1G>C

SNV
Germline

Chr11:108282709

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16041402

rs_1057517226

5 SubmittersRCV000410163 RCV000708602 RCV004022148

NM_000051.4(ATM):c.3747-2A>G

SNV
Germline

Chr11:108284225

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16041404

rs_1057517213

6 SubmittersRCV000409065 RCV001805032 RCV004022147

NM_000051.4(ATM):c.3993+1G>T

SNV
Germline

Chr11:108284474

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16041407

rs_200196781

6 SubmittersRCV000409640 RCV002374612 RCV003470339 RCV004591138

NM_000051.4(ATM):c.3994-1G>T

SNV
Germline

Chr11:108287599

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16041408

rs_1057516238

6 SubmittersRCV000411542 RCV000562309 RCV003470322

NM_000051.4(ATM):c.4246C>T (p.Gln1416Ter)

SNV
Unknown

Chr11:108289611

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

CA16041410

rs_1057516311

1 SubmittersRCV000411659

NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter)

SNV
Germline

Chr11:108293433

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6265531

rs_746499337

5 SubmittersRCV000409906 RCV003168592 RCV003470336

NM_000051.4(ATM):c.4776+2T>A

SNV
Germline

Chr11:108293479

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Gastric cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16041412

rs_587781927

9 SubmittersRCV000412136 RCV000775841 RCV001030531 RCV003168593 RCV004022141

NM_000051.4(ATM):c.5005+1G>T

SNV
Germline

Chr11:108297383

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
ATM-related cancer predisposition

Reviewed By Expert Panel

CA16041413

rs_1057517427

8 SubmittersRCV000412271 RCV001023407 RCV003463809 RCV004719808 RCV005001048

NM_000051.4(ATM):c.5319+1G>T

SNV
Germline

Chr11:108301790

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16041415

rs_876660175

4 SubmittersRCV000411373 RCV003372697 RCV004022133

NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter)

SNV
Germline

Chr11:108304732

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6265729

rs_754562056

6 SubmittersRCV000409717 RCV002348124 RCV002272217

NM_000051.4(ATM):c.5763-2A>T

SNV
Germline

Chr11:108310158

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16041419

rs_876659489

6 SubmittersRCV000410861 RCV000523412 RCV001525392 RCV003470346

NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter)

SNV
Germline

Chr11:108315856

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast and/or ovarian cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA16041420

rs_375783941

9 SubmittersRCV000412041 RCV000657612 RCV000775840 RCV002272219 RCV003150193

NM_000051.4(ATM):c.6095+2T>C

SNV
Germline

Chr11:108315913

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
ATM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16041421

rs_1057516525

6 SubmittersRCV000410313 RCV002356505 RCV004022136 RCV004549833

NM_000051.4(ATM):c.6347+1G>A

SNV
Germline

Chr11:108317522

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16041422

rs_1057517120

7 SubmittersRCV000409839 RCV001180642 RCV004022145

NM_000051.4(ATM):c.6348-1G>A

SNV
Germline

Chr11:108319953

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16041423

rs_1057517302

6 SubmittersRCV000408965 RCV002365447 RCV003470352

NM_000051.4(ATM):c.7089+2T>G

SNV
Germline

Chr11:108327760

Likely pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16041425

rs_1057516235

4 SubmittersRCV000412080 RCV001810873 RCV002365445

NM_000051.4(ATM):c.7166C>G (p.Ser2389Ter)

SNV
Germline

Chr11:108329097

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16041426

rs_1018140779

3 SubmittersRCV000411247 RCV004567881

NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter)

SNV
Germline

Chr11:108335056

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16041429

rs_758588019

7 SubmittersRCV000411242 RCV001182536 RCV001268064 RCV003470345

NM_000051.4(ATM):c.8418+1G>A

SNV
Germline

Chr11:108343372

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6266357

rs_766533795

4 SubmittersRCV000409887 RCV003993944

NM_000051.4(ATM):c.8671+2T>C

SNV
Unknown

Chr11:108347367

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

CA16041430

rs_1057516229

1 SubmittersRCV000411013

NM_000051.4(ATM):c.8851-1G>T

SNV
Germline

Chr11:108365081

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16041431

rs_1057516537

6 SubmittersRCV000410513 RCV002488837 RCV003463793 RCV004948275

NM_000051.4(ATM):c.751G>A (p.Val251Met)

SNV
Germline

Chr11:108244876

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16043784

rs_1057519145

4 SubmittersRCV000415796 RCV000544486 RCV002392942

NM_000051.4(ATM):c.6447T>C (p.Tyr2149=)

SNV
Germline

Chr11:108320053

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16043811

rs_1057519167

4 SubmittersRCV000416147 RCV001080204 RCV002365457 RCV004591144

NM_000051.4(ATM):c.497-1G>A

SNV
Germline

Chr11:108243952

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6264624

rs_778624615

2 SubmittersRCV001865311 RCV004022190

NM_000051.4(ATM):c.1236-2A>T

SNV
Germline/somatic

Chr11:108250699

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Malignant tumor of urinary bladder
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6264792

rs_80159221

5 SubmittersRCV000492860 RCV000988653 RCV003332166 RCV004022189

NM_000051.4(ATM):c.489G>A (p.Gln163=)

SNV
Germline

Chr11:108235827

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16605755

rs_1057523087

6 SubmittersRCV000528589 RCV000575735 RCV001698214 RCV003235213 RCV004591248

NM_000051.4(ATM):c.2839-4T>C

SNV
Germline

Chr11:108271060

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16605776

rs_1057522619

6 SubmittersRCV000527197 RCV000574947 RCV001357612 RCV004591234

NM_000051.4(ATM):c.4910-16A>T

SNV
Germline

Chr11:108297271

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16605798

rs_866500582

7 SubmittersRCV000428745 RCV000580519 RCV001692095 RCV002065032 RCV003492041 RCV004591193

NM_000051.4(ATM):c.5005+15T>A

SNV
Germline

Chr11:108297397

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA6265595

rs_377355762

4 SubmittersRCV000420866 RCV000580446 RCV001103814

NM_000051.4(ATM):c.5011G>T (p.Val1671Phe)

SNV
Germline

Chr11:108299719

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16605809

rs_1057523385

4 SubmittersRCV000434309 RCV000817772 RCV002339077

NM_000051.4(ATM):c.8262T>G (p.Thr2754=)

SNV
Germline

Chr11:108335955

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16605840

rs_1057521506

4 SubmittersRCV000428132 RCV002062563 RCV004022366 RCV004591194

NM_000051.4(ATM):c.2124+6A>T

SNV
Germline

Chr11:108254045

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6264935

rs_550998406

5 SubmittersRCV000437197 RCV000457971 RCV001186650 RCV004591218

NM_000051.4(ATM):c.2377-19T>G

SNV
Germline

Chr11:108258967

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA6265015

rs_775771700

4 SubmittersRCV000420034 RCV000771773 RCV002062498

NM_000051.4(ATM):c.3284+7G>C

SNV
Germline

Chr11:108272859

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265241

rs_371629629

4 SubmittersRCV000439083 RCV000534218 RCV004591229

NM_000051.4(ATM):c.3285-12G>A

SNV
Germline

Chr11:108279479

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16606059

rs_1057521452

4 SubmittersRCV000442856 RCV002062531 RCV001805048 RCV004591191

NM_000051.4(ATM):c.3994-12G>T

SNV
Germline

Chr11:108287588

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16606069

rs_1057520398

5 SubmittersRCV000436977 RCV000580794 RCV002061572 RCV004591154

NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter)

SNV
Germline

Chr11:108287712

Pathogenic/Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16606070

rs_1057520640

8 SubmittersRCV000435435 RCV000472677 RCV000565000 RCV002506024 RCV003470377

NM_000051.4(ATM):c.5763A>G (p.Arg1921=)

SNV
Germline

Chr11:108310160

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16606104

rs_1057523784

4 SubmittersRCV000426699 RCV000534248 RCV001024499

NM_000051.4(ATM):c.6453-3T>C

SNV
Germline

Chr11:108321298

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265952

rs_768073845

4 SubmittersRCV000419794 RCV001368282 RCV002365516 RCV004591211

NM_000051.4(ATM):c.2115C>G (p.Tyr705Ter)

SNV
Germline

Chr11:108254030

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16606161

rs_876659149

4 SubmittersRCV000433818 RCV002418317 RCV002522504 RCV004022444

NM_000051.4(ATM):c.4437-7A>G

SNV
Germline

Chr11:108292612

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA6265474

rs_370354306

7 SubmittersRCV000423984 RCV000472403 RCV000579570 RCV001703689 RCV004591188 RCV004551450

NM_000051.4(ATM):c.4611+9C>G

SNV
Germline

Chr11:108292802

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265503

rs_760704159

5 SubmittersRCV000443681 RCV000590322 RCV000773191 RCV001089223 RCV004591152

NM_000051.4(ATM):c.5178-11G>A

SNV
Germline

Chr11:108301637

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16606193

rs_200876654

7 SubmittersRCV000428412 RCV000672242 RCV001179338 RCV001357439 RCV004591170

NM_000051.4(ATM):c.7314A>C (p.Thr2438=)

SNV
Germline

Chr11:108330220

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6266096

rs_199909913

5 SubmittersRCV000572014 RCV000472317 RCV001703580 RCV004591172

NM_000051.4(ATM):c.7516-5G>A

SNV
Germline

Chr11:108331439

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA16606211

rs_1057520837

3 SubmittersRCV000433899 RCV002392970 RCV002521564

NM_000051.4(ATM):c.8850+5A>C

SNV
Germline

Chr11:108354879

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA16606221

rs_1057522186

4 SubmittersRCV000444695 RCV000563960 RCV001036665

NM_000051.4(ATM):c.8851-10C>T

SNV
Germline

Chr11:108365072

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16606226

rs_1057521676

5 SubmittersRCV000628296 RCV001177842 RCV001720186 RCV003492044 RCV004591201

NM_000051.4(ATM):c.3480G>T (p.Val1160=)

SNV
Germline

Chr11:108281072

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16606807

rs_1001303564

4 SubmittersRCV000436361 RCV000628258 RCV002450979 RCV004591178

NM_000051.4(ATM):c.4109+4T>C

SNV
Germline

Chr11:108287719

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Ataxia-telangiectasia syndrome
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA6265394

rs_754706599

6 SubmittersRCV000434541 RCV000561615 RCV001355209 RCV001220238 RCV004551461

NM_000051.4(ATM):c.6453-5A>G

SNV
Germline

Chr11:108321296

Conflicting classifications of pathogenicity

Carcinoma of colon
Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265951

rs_755177899

5 SubmittersRCV001354090 RCV001455746 RCV001721479 RCV003298457 RCV004591278

NM_000051.4(ATM):c.8641C>T (p.Gln2881Ter)

SNV
Germline

Chr11:108347335

Pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16606855

rs_1057520672

4 SubmittersRCV000421983 RCV001386462 RCV002446664 RCV004567907

NM_000051.4(ATM):c.185+8A>G

SNV
Germline

Chr11:108227896

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6264521

rs_753891198

4 SubmittersRCV000467210 RCV000579638 RCV003330706 RCV004591401

NM_000051.4(ATM):c.526C>G (p.Leu176Val)

SNV
Germline

Chr11:108243982

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6264627

rs_375798802

4 SubmittersRCV000467265 RCV000579672 RCV004567997

NM_000051.4(ATM):c.633C>G (p.Asp211Glu)

SNV
Germline

Chr11:108244089

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16612973

rs_1060501634

5 SubmittersRCV000461974 RCV000482340 RCV000572097 RCV001174925

NM_000051.4(ATM):c.1661C>T (p.Thr554Met)

SNV
Germline

Chr11:108251890

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16612997

rs_1060501694

10 SubmittersRCV000458148 RCV000484925 RCV000561104 RCV002291630

NM_000051.4(ATM):c.1838T>G (p.Val613Gly)

SNV
Germline

Chr11:108252852

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16613012

rs_762018538

9 SubmittersRCV000472274 RCV000572810 RCV001194266 RCV001584149 RCV003476061

NM_000051.4(ATM):c.1899-7C>A

SNV
Germline

Chr11:108253807

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613018

rs_1060501584

3 SubmittersRCV000476856 RCV001189959

NM_000051.4(ATM):c.1939G>T (p.Glu647Ter)

SNV
Germline

Chr11:108253854

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Gastric cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16613019

rs_1060501599

5 SubmittersRCV000464991 RCV000567510 RCV000657762 RCV003168781 RCV004022646

NM_000051.4(ATM):c.1993A>G (p.Ile665Val)

SNV
Germline

Chr11:108253908

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613020

rs_1060501645

4 SubmittersRCV000474844 RCV003235223 RCV002418372

NM_000051.4(ATM):c.3216A>G (p.Glu1072=)

SNV
Germline

Chr11:108272784

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6265227

rs_373699194

4 SubmittersRCV001019290 RCV001401413 RCV004760522

NM_000051.4(ATM):c.3432G>A (p.Leu1144=)

SNV
Germline

Chr11:108281024

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16613036

rs_1060501625

7 SubmittersRCV000476703 RCV001177305 RCV004591302 RCV004591303

NM_000051.4(ATM):c.121A>G (p.Lys41Glu)

SNV
Germline

Chr11:108227824

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613044

rs_1060501672

5 SubmittersRCV000472729 RCV000775928

NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter)

SNV
Germline

Chr11:108289683

Pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
ATM-related cancer predisposition

Reviewed By Expert Panel

CA16613046

rs_1060501551

8 SubmittersRCV000464318 RCV000657607 RCV001022283 RCV004022640 RCV005001054

NM_000051.4(ATM):c.662+1G>A

SNV
Germline

Chr11:108244119

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16613056

rs_1060501690

3 SubmittersRCV000471240 RCV001025464 RCV004022660

NM_000051.4(ATM):c.4753A>G (p.Arg1585Gly)

SNV
Germline

Chr11:108293454

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA6265533

rs_781275128

5 SubmittersRCV000476841 RCV000574681 RCV001355038

NM_000051.4(ATM):c.5189G>T (p.Arg1730Leu)

SNV
Germline

Chr11:108301659

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16613065

rs_373789346

5 SubmittersRCV000463817 RCV000580727 RCV004701498

NM_000051.4(ATM):c.5249G>A (p.Trp1750Ter)

SNV
Germline

Chr11:108301719

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

CA16613066

rs_1060501669

1 SubmittersRCV000470546

NM_000051.4(ATM):c.1466G>T (p.Cys489Phe)

SNV
Germline

Chr11:108250931

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6264817

rs_776412334

5 SubmittersRCV000469083 RCV001011533 RCV001558594 RCV003463891

NM_000051.4(ATM):c.1695A>G (p.Glu565=)

SNV
Germline

Chr11:108251924

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6264858

rs_780932013

7 SubmittersRCV000472970 RCV000483767 RCV000563909 RCV000779760 RCV003470443

NM_000051.4(ATM):c.2095G>C (p.Glu699Gln)

SNV
Germline

Chr11:108254010

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16613085

rs_1060501539

6 SubmittersRCV000460079 RCV000581722 RCV003153614 RCV003470413

NM_000051.4(ATM):c.6199-2A>T

SNV
Germline

Chr11:108317371

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

CA16613095

rs_1060501570

1 SubmittersRCV000475818

NM_000051.4(ATM):c.6272G>A (p.Trp2091Ter)

SNV
Germline

Chr11:108317446

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16613098

rs_1060501712

3 SubmittersRCV000467316 RCV004668982 RCV004591310

NM_000051.4(ATM):c.2547G>A (p.Val849=)

SNV
Germline

Chr11:108267251

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16613106

rs_1060504262

4 SubmittersRCV000471465 RCV001015919 RCV003321622 RCV004591332

NM_000051.4(ATM):c.2554C>T (p.Gln852Ter)

SNV
Germline

Chr11:108267258

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Gastric cancer
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA6265059

rs_758081262

12 SubmittersRCV000457787 RCV000762819 RCV001015914 RCV003155940 RCV003168780 RCV004696912

NM_000051.4(ATM):c.2560T>C (p.Ser854Pro)

SNV
Germline

Chr11:108267264

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613107

rs_1060501632

2 SubmittersRCV000474745 RCV004948321

NM_000051.4(ATM):c.7099G>A (p.Val2367Ile)

SNV
Germline

Chr11:108329030

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613120

rs_1060501647

3 SubmittersRCV000463277 RCV000771628

NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter)

SNV
Germline

Chr11:108272782

Pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Breast cancer, susceptibility to
Familial cancer of breast
ATM-related cancer predisposition

Reviewed By Expert Panel

CA16613125

rs_1060501687

10 SubmittersRCV000459347 RCV000478659 RCV001019287 RCV001258118 RCV003463890 RCV005001055

NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu)

SNV
Germline

Chr11:108272808

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265231

rs_149911447

8 SubmittersRCV000470743 RCV000481741 RCV000575167 RCV001358722 RCV003470439

NM_000051.4(ATM):c.7648A>C (p.Met2550Leu)

SNV
Germline

Chr11:108331897

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613129

rs_878853545

2 SubmittersRCV000464306 RCV002393113

NM_000051.4(ATM):c.7818A>G (p.Ile2606Met)

SNV
Germline

Chr11:108332791

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613132

rs_1027959208

6 SubmittersRCV000474353 RCV000485307 RCV000565171

NM_000051.4(ATM):c.4036G>T (p.Glu1346Ter)

SNV
Germline

Chr11:108287642

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16613138

rs_1060501528

3 SubmittersRCV000461052 RCV001021727 RCV004567989

NM_000051.4(ATM):c.4906C>T (p.Gln1636Ter)

SNV
Germline

Chr11:108295056

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16613152

rs_1060501627

4 SubmittersRCV000456566 RCV001187841 RCV003148742 RCV004022648

NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly)

SNV
Germline

Chr11:108297287

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265583

rs_763457172

12 SubmittersRCV000456711 RCV000571141 RCV002473013 RCV003230499

NM_000051.4(ATM):c.5950A>T (p.Thr1984Ser)

SNV
Germline

Chr11:108312442

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16613163

rs_1060501603

5 SubmittersRCV000474790 RCV000568406 RCV001556379 RCV003470421

NM_000051.4(ATM):c.6078G>A (p.Met2026Ile)

SNV
Germline

Chr11:108315894

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6265843

rs_369349023

5 SubmittersRCV000472781 RCV000482625 RCV001024865

NM_000051.4(ATM):c.6658C>T (p.Gln2220Ter)

SNV
Germline

Chr11:108325395

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16613190

rs_1060501536

9 SubmittersRCV000470482 RCV000497262 RCV001090518 RCV003155941

NM_000051.4(ATM):c.7492T>G (p.Ser2498Ala)

SNV
Germline

Chr11:108330398

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613206

rs_754245181

3 SubmittersRCV000457188 RCV000574776

NM_000051.4(ATM):c.8152-6C>T

SNV
Germline

Chr11:108335839

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6266311

rs_200389039

5 SubmittersRCV000472526 RCV000599710 RCV000582342 RCV001696805 RCV004591369

NM_000051.4(ATM):c.185+4T>A

SNV
Germline

Chr11:108227892

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16613223

rs_1060501685

3 SubmittersRCV000473109 RCV000566818 RCV004591307

NM_000051.4(ATM):c.279G>A (p.Lys93=)

SNV
Germline

Chr11:108229271

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6264545

rs_368196317

4 SubmittersRCV000456197 RCV000574249 RCV001468789 RCV004591367

NM_000051.4(ATM):c.8880G>A (p.Trp2960Ter)

SNV
Germline

Chr11:108365111

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16613231

rs_1060501650

5 SubmittersRCV000472679 RCV000493966 RCV001753883 RCV003463886

NM_000051.4(ATM):c.2376+3A>T

SNV
Germline

Chr11:108257609

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613279

rs_758083563

3 SubmittersRCV000460850 RCV002446805

NM_000051.4(ATM):c.2459A>G (p.Lys820Arg)

SNV
Germline

Chr11:108259068

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16613280

rs_952566855

3 SubmittersRCV000473412 RCV002446807 RCV003470444

NM_000051.4(ATM):c.2474T>G (p.Phe825Cys)

SNV
Germline

Chr11:108267178

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16613284

rs_1060501648

7 SubmittersRCV000471039 RCV000775700 RCV003470430 RCV003479123 RCV004999444

NM_000051.4(ATM):c.1163A>G (p.Lys388Arg)

SNV
Germline

Chr11:108249030

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613312

rs_1060501618

3 SubmittersRCV000468521 RCV000574153

NM_000051.4(ATM):c.2838+9C>T

SNV
Germline

Chr11:108268618

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265121

rs_370160823

5 SubmittersRCV000456716 RCV001178394 RCV001293473 RCV004551550 RCV004591353

NM_000051.4(ATM):c.2839-2A>G

SNV
Germline

Chr11:108271062

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16613314

rs_1060501703

3 SubmittersRCV000464493 RCV000567298

NM_000051.4(ATM):c.1227T>C (p.Leu409=)

SNV
Germline

Chr11:108249094

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16613316

rs_1060504273

5 SubmittersRCV000481318 RCV000569918 RCV001088601 RCV004591342

NM_000051.4(ATM):c.3320T>A (p.Leu1107Ter)

SNV
Germline

Chr11:108279526

Pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
ATM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16613322

rs_1060501711

7 SubmittersRCV000460640 RCV000485900 RCV000571628 RCV003470445 RCV004740236

NM_000051.4(ATM):c.4110-9C>G

SNV
Germline

Chr11:108288968

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16613348

rs_730881367

7 SubmittersRCV000474638 RCV000479444 RCV001021891 RCV003476060

NM_000051.4(ATM):c.1977G>T (p.Lys659Asn)

SNV
Germline

Chr11:108253892

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16613349

rs_1060501565

4 SubmittersRCV000474729 RCV000564798 RCV003493577

NM_000051.4(ATM):c.5062A>G (p.Ile1688Val)

SNV
Germline

Chr11:108299770

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265624

rs_766053182

8 SubmittersRCV000470295 RCV000481399 RCV000568598 RCV000779765 RCV003470440

NM_000051.4(ATM):c.2466+8T>A

SNV
Germline

Chr11:108259083

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265028

rs_765619483

4 SubmittersRCV000590812 RCV001078578 RCV001185286 RCV004591382

NM_000051.4(ATM):c.2495G>T (p.Arg832Leu)

SNV
Germline

Chr11:108267199

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6265050

rs_199875915

10 SubmittersRCV000466846 RCV000572358 RCV000679103 RCV002298598

NM_000051.4(ATM):c.2638+6T>C

SNV
Germline

Chr11:108267348

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6265071

rs_768305533

5 SubmittersRCV000474452 RCV000584345 RCV000579264

NM_000051.4(ATM):c.5319+8A>G

SNV
Germline

Chr11:108301797

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265673

rs_375051697

4 SubmittersRCV000467409 RCV000771459 RCV004591341

NM_000051.4(ATM):c.2908C>T (p.Leu970=)

SNV
Germline

Chr11:108271133

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16613377

rs_1060504260

6 SubmittersRCV000463142 RCV000567194 RCV001591120 RCV004591331

NM_000051.4(ATM):c.3011G>A (p.Ser1004Asn)

SNV
Germline

Chr11:108271340

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613394

rs_1060501696

2 SubmittersRCV000465215 RCV001018058

NM_000051.4(ATM):c.3284+1G>C

SNV
Germline

Chr11:108272853

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16613402

rs_864622129

3 SubmittersRCV000459518 RCV002323709 RCV004022645

NM_000051.4(ATM):c.6325T>G (p.Trp2109Gly)

SNV
Germline

Chr11:108317499

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16613408

rs_1060501654

5 SubmittersRCV000463293 RCV000478293 RCV000562429 RCV003470432

NM_000051.4(ATM):c.6759A>C (p.Lys2253Asn)

SNV
Germline

Chr11:108325496

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16613416

rs_1060501602

5 SubmittersRCV000474857 RCV000583932 RCV003323546 RCV004567994

NM_000051.4(ATM):c.4110-1G>A

SNV
Germline

Chr11:108288976

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16613418

rs_1060501692

7 SubmittersRCV000462992 RCV000566126 RCV001310115

NM_000051.4(ATM):c.4910-1G>T

SNV
Germline

Chr11:108297286

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16613425

rs_1060501706

3 SubmittersRCV000477465 RCV003155942

NM_000051.4(ATM):c.7500C>T (p.Val2500=)

SNV
Germline

Chr11:108330406

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16613429

rs_1060504286

6 SubmittersRCV000462023 RCV000580070 RCV001567892 RCV003150226 RCV004591360

NM_000051.4(ATM):c.7914G>T (p.Trp2638Cys)

SNV
Germline

Chr11:108332887

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6266211

rs_758843096

3 SubmittersRCV000467501 RCV000569832

NM_000051.4(ATM):c.5080G>A (p.Ala1694Thr)

SNV
Germline

Chr11:108299788

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA6265627

rs_756197350

7 SubmittersRCV000462765 RCV000481315 RCV000583320 RCV003492053

NM_000051.4(ATM):c.5236G>A (p.Gly1746Arg)

SNV
Germline

Chr11:108301706

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA16613442

rs_1060501571

3 SubmittersRCV000465365 RCV000566161 RCV003985355

NM_000051.4(ATM):c.8428A>G (p.Lys2810Glu)

SNV
Germline

Chr11:108345752

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613453

rs_730881325

2 SubmittersRCV000459044 RCV004948320

NM_000051.4(ATM):c.8585-2A>C

SNV
Germline

Chr11:108347277

Pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA16613454

rs_1060501700

6 SubmittersRCV000462876 RCV000482474 RCV001018039 RCV002221539

NM_000051.4(ATM):c.9042A>G (p.Gln3014=)

SNV
Germline

Chr11:108365379

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16613463

rs_1060504291

5 SubmittersRCV000460483 RCV000573290 RCV004591370 RCV004999499

NM_000051.4(ATM):c.7200A>G (p.Arg2400=)

SNV
Germline

Chr11:108329131

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16613489

rs_1060501534

3 SubmittersRCV000468371 RCV003320466 RCV004591297

NM_000051.4(ATM):c.7308-10T>G

SNV
Germline

Chr11:108330204

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6266094

rs_745319720

3 SubmittersRCV000476184 RCV001175646

NM_000051.4(ATM):c.7308-6T>C

SNV
Germline

Chr11:108330208

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6266095

rs_574836628

2 SubmittersRCV000463372 RCV004591305

NM_000051.4(ATM):c.8122G>C (p.Asp2708His)

SNV
Germline

Chr11:108335080

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16613497

rs_587782719

2 SubmittersRCV000457844 RCV002418373

NM_000051.4(ATM):c.8418+2T>C

SNV
Germline

Chr11:108343373

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16613510

rs_1060501713

4 SubmittersRCV000462857 RCV000494154 RCV004022663 RCV004999447

NM_000051.4(ATM):c.8672-3T>C

SNV
Germline

Chr11:108353763

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16613518

rs_1060501550

4 SubmittersRCV000457502 RCV004591299 RCV004999442

NM_000051.4(ATM):c.8987+10A>G

SNV
Germline

Chr11:108365228

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16613526

rs_1060504308

5 SubmittersRCV000464499 RCV000588444 RCV000776543 RCV004591393

NM_000051.4(ATM):c.118A>G (p.Ile40Val)

SNV
Germline

Chr11:108227821

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16619094

rs_1064796002

4 SubmittersRCV000479184 RCV000535900 RCV000775870

NM_000051.4(ATM):c.229A>G (p.Ile77Val)

SNV
Germline

Chr11:108229221

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16619096

rs_1064796032

5 SubmittersRCV000487019 RCV000571021 RCV000812838 RCV003470581

NM_000051.4(ATM):c.713T>C (p.Ile238Thr)

SNV
Germline

Chr11:108244838

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA6264673

rs_149116878

5 SubmittersRCV000480166 RCV000574196 RCV001222216

NM_000051.4(ATM):c.887A>G (p.Lys296Arg)

SNV
Germline

Chr11:108245012

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA16619102

rs_1064795297

3 SubmittersRCV000478072 RCV002376882 RCV002525879

NM_000051.4(ATM):c.902-1G>T

SNV
Germline

Chr11:108246963

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16619104

rs_1064793518

10 SubmittersRCV000478968 RCV000493667 RCV000685477 RCV002289623

NM_000051.4(ATM):c.1104A>C (p.Gln368His)

SNV
Germline

Chr11:108248971

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA16619106

rs_560691658

3 SubmittersRCV000484516 RCV002431396 RCV003605622

NM_000051.4(ATM):c.1165A>G (p.Ile389Val)

SNV
Germline

Chr11:108249032

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16619108

rs_1060501704

4 SubmittersRCV000479676 RCV000628025 RCV002323837 RCV004568198

NM_000051.4(ATM):c.1208C>A (p.Ser403Ter)

SNV
Germline

Chr11:108249075

Pathogenic/Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Malignant tumor of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16619109

rs_747563556

7 SubmittersRCV000486612 RCV000804410 RCV001010287 RCV003463998 RCV004586730

NM_000051.4(ATM):c.1235+5A>T

SNV
Germline

Chr11:108249107

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16619111

rs_1064793679

4 SubmittersRCV000486242 RCV000524585 RCV000775952

NM_000051.4(ATM):c.1236-2A>G

SNV
Germline

Chr11:108250699

Pathogenic/Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16619112

rs_80159221

8 SubmittersRCV000483797 RCV000537165 RCV000771771 RCV003470541

NM_000051.4(ATM):c.1905C>T (p.His635=)

SNV
Germline

Chr11:108253820

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16619129

rs_1020808836

6 SubmittersRCV000478597 RCV000575131 RCV001475097 RCV002307518 RCV004591427

NM_000051.4(ATM):c.1994T>C (p.Ile665Thr)

SNV
Germline

Chr11:108253909

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16619131

rs_1064793789

4 SubmittersRCV000481061 RCV000627944 RCV000772636

NM_000051.4(ATM):c.2125-4T>C

SNV
Germline

Chr11:108256211

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16619133

rs_1064795623

5 SubmittersRCV000480304 RCV000567682 RCV001042707 RCV004591429

NM_000051.4(ATM):c.2466+5G>C

SNV
Germline

Chr11:108259080

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA16619140

rs_1064795969

4 SubmittersRCV000486136 RCV000580666 RCV000800097

NM_000051.4(ATM):c.2553T>G (p.Asp851Glu)

SNV
Germline

Chr11:108267257

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16619142

rs_1064793513

5 SubmittersRCV000483479 RCV000569986 RCV000821523 RCV003470538

NM_000051.4(ATM):c.5005+19C>G

SNV
Germline

Chr11:108297401

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA16619191

rs_1064794787

3 SubmittersRCV000481696 RCV000584136 RCV002056787

NM_000051.4(ATM):c.5156A>G (p.Asn1719Ser)

SNV
Germline

Chr11:108299864

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265636

rs_183531638

9 SubmittersRCV000485988 RCV000546123 RCV000565111 RCV002481518 RCV003470569

NM_000051.4(ATM):c.5697C>A (p.Cys1899Ter)

SNV
Germline

Chr11:108307919

Pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6265759

rs_753839301

5 SubmittersRCV000478233 RCV001045999 RCV002350067 RCV004023152

NM_000051.4(ATM):c.6188G>A (p.Gly2063Glu)

SNV
Germline

Chr11:108316103

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16619209

rs_866290641

4 SubmittersRCV000484938 RCV001378077 RCV004023133 RCV003470551

NM_000051.4(ATM):c.6452+2T>C

SNV
Germline

Chr11:108320060

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA16619213

rs_1064795006

3 SubmittersRCV000481420 RCV000675168

NM_000051.4(ATM):c.6573-11G>A

SNV
Germline

Chr11:108325299

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265985

rs_375599653

5 SubmittersRCV000479451 RCV000771923 RCV002063710 RCV004591419

NM_000051.4(ATM):c.6908A>T (p.Lys2303Met)

SNV
Germline

Chr11:108326158

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16619222

rs_1064795166

3 SubmittersRCV000485190 RCV000560466 RCV001025791

NM_000051.4(ATM):c.7307+18A>G

SNV
Germline

Chr11:108329256

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16619229

rs_777909508

3 SubmittersRCV000480001 RCV001865454 RCV002383922

NM_000051.4(ATM):c.7630-2A>G

SNV
Germline

Chr11:108331877

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16619236

rs_587779866

6 SubmittersRCV000484828 RCV000493469 RCV000525719 RCV004023156

NM_000051.4(ATM):c.7788+3A>G

SNV
Germline

Chr11:108332040

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16619241

rs_869312788

5 SubmittersRCV000482677 RCV000779769 RCV001317104 RCV001692142

NM_000051.4(ATM):c.8140C>T (p.Gln2714Ter)

SNV
Germline

Chr11:108335098

Pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Breast and/or ovarian cancer
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA16619247

rs_1060501695

10 SubmittersRCV000480590 RCV000627965 RCV001027217 RCV003155945 RCV003492069 RCV003168944

NM_000051.4(ATM):c.8149A>T (p.Lys2717Ter)

SNV
Germline

Chr11:108335107

Pathogenic/Likely pathogenic

Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16619248

rs_774334667

4 SubmittersRCV000483856 RCV003464023 RCV003500539

NM_000051.4(ATM):c.8187A>G (p.Gln2729=)

SNV
Germline

Chr11:108335880

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16619249

rs_587781946

6 SubmittersRCV000486743 RCV000799140 RCV001027254 RCV004591415

NM_000051.4(ATM):c.8268+1G>A

SNV
Germline

Chr11:108335962

Likely pathogenic

Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Reviewed By Expert Panel

CA16619252

rs_876658957

6 SubmittersRCV000479755 RCV001310098 RCV001377037 RCV002431404

NM_000051.4(ATM):c.8314G>A (p.Gly2772Arg)

SNV
Germline

Chr11:108343267

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16619256

rs_1064794239

8 SubmittersRCV000486226 RCV000565973 RCV000670258 RCV004568173

NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter)

SNV
Germline

Chr11:108343326

Pathogenic/Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA16619258

rs_1060504292

9 SubmittersRCV000479411 RCV000533131 RCV001177309 RCV003470552

NM_000051.4(ATM):c.8486C>T (p.Pro2829Leu)

SNV
Germline

Chr11:108345810

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16619259

rs_938431501

4 SubmittersRCV000480686 RCV000566971 RCV000792087 RCV002307513

NM_000051.4(ATM):c.8631G>A (p.Leu2877=)

SNV
Germline

Chr11:108347325

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16619264

rs_1064794840

5 SubmittersRCV000478997 RCV002446930 RCV003605625 RCV004591425

NM_000051.4(ATM):c.901G>A (p.Gly301Ser)

SNV
Germline

Chr11:108245026

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA16621626

rs_1064797160

5 SubmittersRCV000487981 RCV000579975 RCV000821980 RCV001171411

NM_000051.4(ATM):c.3842G>A (p.Ser1281Asn)

SNV
Germline

Chr11:108284322

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA16621627

rs_1064797161

5 SubmittersRCV000488045 RCV000570011 RCV001834580

NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu)

SNV
Germline

Chr11:108304811

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265741

rs_758908522

10 SubmittersRCV000489997 RCV000546553 RCV000569421 RCV000780900 RCV003316640

NM_000051.4(ATM):c.850C>T (p.Gln284Ter)

SNV
Germline

Chr11:108244975

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6264685

rs_757782702

5 SubmittersRCV000493159 RCV001389991 RCV003470607

NM_000051.4(ATM):c.2639-384A>G

SNV
Germline

Chr11:108268026

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA601698081

rs_1131691154

8 SubmittersRCV000493875 RCV001271168 RCV003464062

NM_000051.4(ATM):c.3865A>T (p.Lys1289Ter)

SNV
Germline

Chr11:108284345

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382525312

rs_1131691160

3 SubmittersRCV000494348 RCV001224805 RCV004023292

NM_000051.4(ATM):c.4507C>T (p.Gln1503Ter)

SNV
Germline

Chr11:108292689

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382533561

rs_1131691164

7 SubmittersRCV000493310 RCV000545871 RCV000657609 RCV000762822 RCV003470610

NM_000051.4(ATM):c.5177+1G>A

SNV
Germline

Chr11:108299886

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382541263

rs_1131691159

3 SubmittersRCV000493729 RCV000587062

NM_000051.4(ATM):c.5771C>A (p.Ser1924Ter)

SNV
Germline

Chr11:108310168

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA382548290

rs_876658831

5 SubmittersRCV000493183 RCV001045119 RCV003470608 RCV004701558

NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter)

SNV
Germline

Chr11:108327701

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA382558847

rs_1131691162

8 SubmittersRCV000493110 RCV000628129 RCV002496891 RCV003470609 RCV004999536

NM_000051.4(ATM):c.8495G>C (p.Arg2832Pro)

SNV
Germline

Chr11:108345819

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382518107

rs_529296539

2 SubmittersRCV000492899 RCV002527069

NM_000051.4(ATM):c.8879G>A (p.Trp2960Ter)

SNV
Germline

Chr11:108365110

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382529659

rs_1131691149

6 SubmittersRCV000494678 RCV000552032 RCV003470606 RCV003483637

NM_000051.4(ATM):c.8495G>T (p.Arg2832Leu)

SNV
Germline

Chr11:108345819

Pathogenic/Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382518109

rs_529296539

5 SubmittersRCV000493266 RCV000534120 RCV002413361

NM_000051.4(ATM):c.2922-8T>A

SNV
Germline

Chr11:108271243

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA645372903

rs_545892367

5 SubmittersRCV000502033 RCV000727114 RCV000988670 RCV001190704

NM_000051.4(ATM):c.3927A>G (p.Ala1309=)

SNV
Germline

Chr11:108284407

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA476744904

rs_1555093665

5 SubmittersRCV000500405 RCV000628210 RCV002376918 RCV004591443

NM_000051.4(ATM):c.5357T>C (p.Phe1786Ser)

SNV
Germline

Chr11:108302890

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA382543300

rs_1555106375

5 SubmittersRCV000506669 RCV000560983 RCV001308385 RCV004760543

NM_000051.4(ATM):c.652C>T (p.Gln218Ter)

SNV
Germline

Chr11:108244108

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382528550

rs_1555066551

6 SubmittersRCV000523860 RCV000575828 RCV001387799 RCV004023604

NM_000051.4(ATM):c.664C>T (p.Gln222Ter)

SNV
Germline

Chr11:108244789

Pathogenic/Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382528913

rs_1555066917

6 SubmittersRCV000522207 RCV000672732 RCV002367729 RCV003464108

NM_000051.4(ATM):c.1066-2A>T

SNV
Germline

Chr11:108248931

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382532304

rs_1555069514

5 SubmittersRCV000523800 RCV000777178 RCV001201887 RCV004023577

NM_000051.4(ATM):c.1264A>T (p.Lys422Ter)

SNV
Germline

Chr11:108250729

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382533357

rs_1555070678

5 SubmittersRCV000523019 RCV002413412 RCV003605630 RCV004023584

NM_000051.4(ATM):c.2124+1G>T

SNV
Germline

Chr11:108254040

Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382537818

rs_1555073553

4 SubmittersRCV000522113 RCV000701337 RCV002420323 RCV004023620

NM_000051.4(ATM):c.3532A>T (p.Lys1178Ter)

SNV
Germline

Chr11:108281124

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382520194

rs_1555091359

4 SubmittersRCV000520761 RCV002456010 RCV003605629 RCV004023582

NM_000051.4(ATM):c.4303A>T (p.Lys1435Ter)

SNV
Germline

Chr11:108289668

Pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382531617

rs_876660964

3 SubmittersRCV000519120 RCV001203850 RCV004023542

NM_000051.4(ATM):c.5497-2A>C

SNV
Germline

Chr11:108304673

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382545605

rs_786203796

14 SubmittersRCV000521216 RCV000563654 RCV000557758 RCV001171404 RCV003483650

NM_000051.4(ATM):c.6327G>A (p.Trp2109Ter)

SNV
Germline

Chr11:108317501

Pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382552243

rs_867760244

2 SubmittersRCV000520110 RCV003605628

NM_000051.4(ATM):c.6490G>T (p.Glu2164Ter)

SNV
Germline

Chr11:108321338

Pathogenic/Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382554013

rs_1317619286

3 SubmittersRCV000523585 RCV001857980 RCV003352903

NM_000051.4(ATM):c.7865C>T (p.Ala2622Val)

SNV
Germline

Chr11:108332838

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Tip-toe gait

Criteria Provided
Multiple Submitters
No Conflicts

CA382561402

rs_766351395

5 SubmittersRCV000521492 RCV001026887 RCV001386702 RCV003319205

NM_000051.4(ATM):c.8152-1G>A

SNV
Germline

Chr11:108335844

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382562325

rs_1398616877

7 SubmittersRCV000523454 RCV000574836 RCV001060841 RCV003470658

NM_000051.4(ATM):c.8793T>A (p.Cys2931Ter)

SNV
Germline

Chr11:108354817

Pathogenic/Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382525570

rs_1555143494

6 SubmittersRCV000522033 RCV000539551 RCV001018342 RCV001253612

NM_000051.4(ATM):c.434T>G (p.Leu145Arg)

SNV
Germline

Chr11:108235772

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

CA382525216

rs_1555059346

3 SubmittersRCV000525165 RCV003278875 RCV003483654

NM_000051.4(ATM):c.750A>G (p.Arg250=)

SNV
Germline

Chr11:108244875

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA476744694

rs_1555067112

3 SubmittersRCV000543722 RCV002395264 RCV004592529

NM_000051.4(ATM):c.901+6A>C

SNV
Germline

Chr11:108245032

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA658656194

rs_1555067357

2 SubmittersRCV000544763

NM_000051.4(ATM):c.976A>G (p.Ile326Val)

SNV
Germline

Chr11:108247038

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382531103

rs_1555068422

5 SubmittersRCV000528412 RCV000708662 RCV003470689

NM_000051.4(ATM):c.1065+5A>T

SNV
Germline

Chr11:108247132

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA658656205

rs_1204741025

3 SubmittersRCV000529508 RCV001009821

NM_000051.4(ATM):c.1495C>T (p.Gln499Ter)

SNV
Germline

Chr11:108250960

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382534219

rs_1555071075

4 SubmittersRCV000528534 RCV001011781 RCV004023631

NM_000051.4(ATM):c.1547T>G (p.Leu516Ter)

SNV
Germline

Chr11:108251012

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382534329

rs_786202195

3 SubmittersRCV000542486 RCV002404356 RCV004023632

NM_000051.4(ATM):c.1555G>A (p.Val519Ile)

SNV
Germline

Chr11:108251020

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA382534343

rs_758056561

5 SubmittersRCV000530412 RCV000561046 RCV003330744 RCV004721407

NM_000051.4(ATM):c.1881C>T (p.Phe627=)

SNV
Germline

Chr11:108252895

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA476672251

rs_1555072574

4 SubmittersRCV000540668 RCV001013489 RCV004591468 RCV005000098

NM_000051.4(ATM):c.2308G>T (p.Glu770Ter)

SNV
Germline

Chr11:108257538

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382539851

rs_1555075721

2 SubmittersRCV000558902 RCV000777264

NM_000051.4(ATM):c.2467-8C>G

SNV
Germline

Chr11:108267163

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658656230

rs_1425701157

4 SubmittersRCV000555393 RCV000777237 RCV003886407

NM_000051.4(ATM):c.2467-1G>A

SNV
Germline

Chr11:108267170

Likely pathogenic

Ataxia-telangiectasia syndrome
Malignant tumor of breast
Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382543080

rs_1328985852

5 SubmittersRCV000539233 RCV001260447 RCV003225078 RCV003470665 RCV004678733

NM_000051.4(ATM):c.2466+1G>A

SNV
Germline

Chr11:108259076

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA228399971

rs_914092098

4 SubmittersRCV000555048 RCV002431495 RCV003476226

NM_000051.4(ATM):c.2654T>G (p.Leu885Ter)

SNV
Germline

Chr11:108268425

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

CA382545038

rs_1555083096

1 SubmittersRCV000535837

NM_000051.4(ATM):c.3382C>T (p.Gln1128Ter)

SNV
Germline

Chr11:108279588

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382517750

rs_876659825

2 SubmittersRCV000531887 RCV004023639

NM_000051.4(ATM):c.2751C>T (p.Ser917=)

SNV
Germline

Chr11:108268522

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA228407711

rs_876659611

4 SubmittersRCV000584244 RCV001457278 RCV004592467

NM_000051.4(ATM):c.3728A>G (p.Asn1243Ser)

SNV
Germline

Chr11:108282861

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA382523786

rs_730881363

4 SubmittersRCV000537394 RCV000567351

NM_000051.4(ATM):c.4184A>G (p.Asn1395Ser)

SNV
Germline

Chr11:108289051

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA228374758

rs_375396787

4 SubmittersRCV000531934 RCV000777907

NM_000051.4(ATM):c.4639A>G (p.Ile1547Val)

SNV
Germline

Chr11:108293340

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6265524

rs_537377433

4 SubmittersRCV000528025 RCV000564870 RCV003464121 RCV004721408

NM_000051.4(ATM):c.4678A>G (p.Lys1560Glu)

SNV
Germline

Chr11:108293379

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA382534733

rs_767981230

2 SubmittersRCV000555039 RCV002341236

NM_000051.4(ATM):c.5177+3G>A

SNV
Germline

Chr11:108299888

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265638

rs_774216164

4 SubmittersRCV000547011 RCV001181367 RCV004592502

NM_000051.4(ATM):c.5323T>G (p.Leu1775Val)

SNV
Germline

Chr11:108302856

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA228388283

rs_768820804

6 SubmittersRCV000548528 RCV000573724 RCV002060287 RCV004568679

NM_000051.4(ATM):c.5650A>G (p.Thr1884Ala)

SNV
Germline

Chr11:108304828

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA382546491

rs_1555107562

4 SubmittersRCV000559863 RCV001181314

NM_000051.4(ATM):c.5918+8A>C

SNV
Germline

Chr11:108310323

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
not specified

Criteria Provided
Conflicting Classifications

CA601723866

rs_1401825950

6 SubmittersRCV000532576 RCV000583702 RCV004592510 RCV004701600

NM_000051.4(ATM):c.5524C>T (p.Leu1842Phe)

SNV
Germline

Chr11:108304702

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA228389689

rs_956546711

4 SubmittersRCV000527814 RCV000563014 RCV003492090

NM_000051.4(ATM):c.5971G>T (p.Glu1991Ter)

SNV
Germline

Chr11:108312463

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382548737

rs_786203404

7 SubmittersRCV000554055 RCV000567120 RCV000991562 RCV003464123

NM_000051.4(ATM):c.6095+4A>G

SNV
Germline

Chr11:108315915

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA658656182

rs_1555113632

4 SubmittersRCV000535199 RCV001024886 RCV001192391

NM_000051.4(ATM):c.6198+2T>C

SNV
Germline

Chr11:108316115

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382550826

rs_1555113882

3 SubmittersRCV000556117 RCV004023650 RCV004796229

NM_000051.4(ATM):c.6196C>G (p.Gln2066Glu)

SNV
Germline

Chr11:108316111

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382550803

rs_1361215494

4 SubmittersRCV000539253 RCV000560976 RCV003470677

NM_000051.4(ATM):c.6573-2A>G

SNV
Germline

Chr11:108325308

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6265987

rs_751168951

5 SubmittersRCV000534309 RCV001025423 RCV003470678

NM_000051.4(ATM):c.7308-2A>C

SNV
Germline

Chr11:108330212

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382559855

rs_1555122938

3 SubmittersRCV000543267 RCV001026250 RCV003139744

NM_000051.4(ATM):c.11T>C (p.Val4Ala)

SNV
Germline

Chr11:108227635

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA382518955

rs_1555053873

3 SubmittersRCV000560752 RCV001185975

NM_000051.4(ATM):c.331+2T>G

SNV
Germline

Chr11:108229325

Pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA382521846

rs_1555055358

2 SubmittersRCV000528884 RCV003321643

NM_000051.4(ATM):c.8047A>G (p.Ile2683Val)

SNV
Germline

Chr11:108335005

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

CA382561910

rs_587781344

4 SubmittersRCV000534505 RCV000565189 RCV001355951

NM_000051.4(ATM):c.8011-1G>T

SNV
Germline

Chr11:108334968

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

CA382561832

rs_1555127017

1 SubmittersRCV000531766

NM_000051.4(ATM):c.562G>T (p.Ala188Ser)

SNV
Germline

Chr11:108244018

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA382527774

rs_1555066392

2 SubmittersRCV000529387 RCV000561643

NM_000051.4(ATM):c.743G>T (p.Arg248Leu)

SNV
Germline

Chr11:108244868

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382529260

rs_769166447

8 SubmittersRCV000540986 RCV000580624 RCV001267945 RCV003151081 RCV003470684

NM_000051.4(ATM):c.8785A>C (p.Arg2929=)

SNV
Germline

Chr11:108353879

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA228373546

rs_1013290424

2 SubmittersRCV000527893 RCV001181423

NM_000051.4(ATM):c.1093G>T (p.Glu365Ter)

SNV
Germline

Chr11:108248960

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382532369

rs_1555069577

3 SubmittersRCV000553846 RCV002448583

NM_000051.4(ATM):c.8851G>A (p.Val2951Ile)

SNV
Germline

Chr11:108365082

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA382529526

rs_1555151205

3 SubmittersRCV000529480 RCV000566124 RCV001570885

NM_000051.4(ATM):c.8903T>A (p.Leu2968Ter)

SNV
Germline

Chr11:108365134

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382529828

rs_1555151315

2 SubmittersRCV000543440 RCV004023660

NM_000051.4(ATM):c.2272G>T (p.Glu758Ter)

SNV
Germline

Chr11:108257502

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382539621

rs_1555075658

2 SubmittersRCV000546234 RCV000562105

NM_000051.4(ATM):c.2466+2T>G

SNV
Germline

Chr11:108259077

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

CA382541438

rs_878853495

1 SubmittersRCV000526775

NM_000051.4(ATM):c.2553T>A (p.Asp851Glu)

SNV
Germline

Chr11:108267257

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA382543740

rs_1064793513

3 SubmittersRCV000558049 RCV002431497 RCV004586760

NM_000051.4(ATM):c.2693T>G (p.Leu898Ter)

SNV
Germline

Chr11:108268464

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382545194

rs_770610463

3 SubmittersRCV000540461 RCV002431498 RCV004023635

NM_000051.4(ATM):c.3092A>T (p.Glu1031Val)

SNV
Germline

Chr11:108272546

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA382515059

rs_758708495

3 SubmittersRCV000537780 RCV000580540

NM_000051.4(ATM):c.3488C>A (p.Ser1163Tyr)

SNV
Germline

Chr11:108281080

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265299

rs_372766122

3 SubmittersRCV000558586 RCV002341233 RCV003470667

NM_000051.4(ATM):c.3606A>G (p.Gly1202=)

SNV
Germline

Chr11:108282739

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA476673228

rs_1189826741

3 SubmittersRCV000549029 RCV002456024 RCV004592478

NM_000051.4(ATM):c.4110-4T>C

SNV
Germline

Chr11:108288973

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial ovarian cancer
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265405

rs_777186156

6 SubmittersRCV000526638 RCV000570155 RCV001354274 RCV001798870 RCV004592486

NM_000051.4(ATM):c.4493T>G (p.Leu1498Ter)

SNV
Germline

Chr11:108292675

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382533389

rs_1329359780

2 SubmittersRCV000557405 RCV004023643

NM_000051.4(ATM):c.8959G>T (p.Asp2987Tyr)

SNV
Germline

Chr11:108365190

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382530262

rs_863224582

9 SubmittersRCV000525512 RCV000570783 RCV001764521 RCV004568690

NM_000051.4(ATM):c.557T>G (p.Leu186Ter)

SNV
Germline

Chr11:108244013

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

CA382527749

rs_1555066388

1 SubmittersRCV000548202

NM_000051.4(ATM):c.1007T>G (p.Phe336Cys)

SNV
Germline

Chr11:108247069

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA228386405

rs_1018587967

4 SubmittersRCV000551994 RCV003584639

NM_000051.4(ATM):c.1427A>G (p.Gln476Arg)

SNV
Germline

Chr11:108250892

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA382534030

rs_1397399631

3 SubmittersRCV000557761 RCV000777262

NM_000051.4(ATM):c.1442T>G (p.Leu481Ter)

SNV
Germline

Chr11:108250907

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Reviewed By Expert Panel

CA382534080

rs_1555070980

9 SubmittersRCV000546281 RCV000564972 RCV000657713 RCV000762814 RCV002221550

NM_000051.4(ATM):c.1775G>A (p.Ser592Asn)

SNV
Germline

Chr11:108252004

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6264865

rs_776911505

7 SubmittersRCV000537610 RCV000562395 RCV001292869 RCV001534928

NM_000051.4(ATM):c.1898+1G>T

SNV
Germline

Chr11:108252913

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382536128

rs_758325274

5 SubmittersRCV000529407 RCV000576102 RCV004023633

NM_000051.4(ATM):c.1898+3A>G

SNV
Germline

Chr11:108252915

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6264898

rs_200169643

6 SubmittersRCV000542135 RCV000571939 RCV003150259 RCV003324759

NM_000051.4(ATM):c.2193C>A (p.Tyr731Ter)

SNV
Germline

Chr11:108256283

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA382538927

rs_2229019

5 SubmittersRCV000533402 RCV002431494 RCV003476225 RCV004719850

NM_000051.4(ATM):c.2639-3T>C

SNV
Germline

Chr11:108268407

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA602132630

rs_1410247657

5 SubmittersRCV000551479 RCV001683551 RCV001805140 RCV004592466

NM_000051.4(ATM):c.3673C>T (p.Gln1225Ter)

SNV
Germline

Chr11:108282806

Pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382523231

rs_1555092430

7 SubmittersRCV000542499 RCV000657606 RCV001020855 RCV004023641

NM_000051.4(ATM):c.3677A>G (p.Asp1226Gly)

SNV
Germline

Chr11:108282810

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA382523290

rs_1555092445

2 SubmittersRCV000531288 RCV002456026

NM_000051.4(ATM):c.4609C>T (p.Gln1537Ter)

SNV
Germline

Chr11:108292791

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382534097

rs_1555100037

3 SubmittersRCV000534060 RCV002341234 RCV004023645

NM_000051.4(ATM):c.4910-5T>C

SNV
Germline

Chr11:108297282

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658656218

rs_1309478967

4 SubmittersRCV000552366 RCV000567462 RCV003464122

NM_000051.4(ATM):c.5005+8A>G

SNV
Germline

Chr11:108297390

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA645569719

rs_1204604787

5 SubmittersRCV000549358 RCV000582015 RCV000614079 RCV004592497

NM_000051.4(ATM):c.5264T>C (p.Met1755Thr)

SNV
Germline

Chr11:108301734

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA382542556

rs_1555105739

2 SubmittersRCV000547726 RCV001023820

NM_000051.4(ATM):c.5674+6C>G

SNV
Germline

Chr11:108304858

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA6265749

rs_780204400

5 SubmittersRCV000557247 RCV000583627 RCV001293568

NM_000051.4(ATM):c.5944C>T (p.Gln1982Ter)

SNV
Germline

Chr11:108312436

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382548683

rs_1555111775

4 SubmittersRCV000545189 RCV003470676 RCV004023649

NM_000051.4(ATM):c.6348-3C>T

SNV
Germline

Chr11:108319951

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA228405662

rs_946541820

3 SubmittersRCV000558871 RCV000565699

NM_000051.4(ATM):c.7311C>A (p.Tyr2437Ter)

SNV
Germline

Chr11:108330217

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA228418043

rs_763470424

6 SubmittersRCV000526299 RCV001026262 RCV003226319 RCV003470683

NM_000051.4(ATM):c.7788+7G>A

SNV
Germline

Chr11:108332044

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6266177

rs_749610251

6 SubmittersRCV000554985 RCV000606073 RCV000776302 RCV004592534

NM_000051.4(ATM):c.7819T>C (p.Cys2607Arg)

SNV
Germline

Chr11:108332792

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382561300

rs_1459650575

6 SubmittersRCV000546599 RCV000777212 RCV004592535 RCV004787835

NM_000051.4(ATM):c.7984G>A (p.Val2662Ile)

SNV
Germline

Chr11:108333942

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA382561767

rs_1315805984

6 SubmittersRCV000527553 RCV001180547 RCV001597153

NM_000051.4(ATM):c.8418G>A (p.Met2806Ile)

SNV
Germline

Chr11:108343371

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA382516878

rs_762744146

2 SubmittersRCV000545748 RCV002448585

NM_000051.4(ATM):c.8671+1G>T

SNV
Germline

Chr11:108347366

Likely pathogenic

Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382521374

rs_1555139694

4 SubmittersRCV000542860 RCV003235271 RCV004023658 RCV004669025

NM_000051.4(ATM):c.8988-7T>G

SNV
Germline

Chr11:108365318

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658656279

rs_1487809821

3 SubmittersRCV000524743 RCV001547522

NM_000051.4(ATM):c.33C>T (p.Cys11=)

SNV
Germline

Chr11:108227657

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA476667965

rs_1555053901

3 SubmittersRCV000566999 RCV000602447 RCV003605650

NM_000051.4(ATM):c.73-3C>G

SNV
Germline

Chr11:108227773

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA658656135

rs_1555054039

3 SubmittersRCV000565365 RCV000807284 RCV003441950

NM_000051.4(ATM):c.422G>A (p.Cys141Tyr)

SNV
Germline

Chr11:108235760

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6264606

rs_745890227

3 SubmittersRCV000567429 RCV001045775 RCV003324770

NM_000051.4(ATM):c.496+4T>G

SNV
Germline

Chr11:108235838

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA382525828

rs_587781375

4 SubmittersRCV000561000 RCV000613919 RCV001063793

NM_000051.4(ATM):c.498A>T (p.Glu166Asp)

SNV
Germline

Chr11:108243954

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6264625

rs_587779842

6 SubmittersRCV000569717 RCV000627997 RCV003459313

NM_000051.4(ATM):c.655T>C (p.Cys219Arg)

SNV
Germline

Chr11:108244111

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6264641

rs_771685059

7 SubmittersRCV000574948 RCV000627910 RCV000780889 RCV001549733

NM_000051.4(ATM):c.362T>A (p.Leu121Ter)

SNV
Germline

Chr11:108235700

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6264593

rs_771342315

3 SubmittersRCV000570543 RCV001858239 RCV004024497

NM_000051.4(ATM):c.456G>T (p.Val152=)

SNV
Germline

Chr11:108235794

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA476670414

rs_1555059433

4 SubmittersRCV000572522 RCV001500810 RCV004592710

NM_000051.4(ATM):c.1443A>C (p.Leu481Phe)

SNV
Germline

Chr11:108250908

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA228391034

rs_753808755

4 SubmittersRCV000575362 RCV000813284

NM_000051.4(ATM):c.846A>T (p.Leu282Phe)

SNV
Germline

Chr11:108244971

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6264684

rs_754008850

5 SubmittersRCV000570159 RCV000627865 RCV003328603

NM_000051.4(ATM):c.1492G>C (p.Glu498Gln)

SNV
Germline

Chr11:108250957

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382534210

rs_1555071060

4 SubmittersRCV000568261 RCV000688060 RCV003465219

NM_000051.4(ATM):c.1003G>T (p.Gly335Ter)

SNV
Germline

Chr11:108247065

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382531372

rs_1555068471

4 SubmittersRCV000566562 RCV000689138 RCV004024453

NM_000051.4(ATM):c.2033T>C (p.Ile678Thr)

SNV
Germline

Chr11:108253948

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

CA382537391

rs_1485409783

6 SubmittersRCV000561435 RCV001066679 RCV001328376 RCV002289826 RCV003150281

NM_000051.4(ATM):c.1178G>A (p.Trp393Ter)

SNV
Germline

Chr11:108249045

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382532540

rs_1025339570

3 SubmittersRCV000574876 RCV002526814 RCV004024473

NM_000051.4(ATM):c.2376+3A>G

SNV
Germline

Chr11:108257609

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA6264998

rs_758083563

3 SubmittersRCV000562004 RCV000694644

NM_000051.4(ATM):c.1335A>G (p.Gln445=)

SNV
Germline

Chr11:108250800

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA476671927

rs_1385656085

5 SubmittersRCV000561989 RCV000690981 RCV001591327

NM_000051.4(ATM):c.2377-5T>C

SNV
Germline

Chr11:108258981

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265018

rs_754206007

3 SubmittersRCV000572482 RCV000628280 RCV004592661

NM_000051.4(ATM):c.73-3C>T

SNV
Germline

Chr11:108227773

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA658656136

rs_1555054039

3 SubmittersRCV000568304 RCV000627959 RCV000779756

NM_000051.4(ATM):c.2531G>C (p.Gly844Ala)

SNV
Germline

Chr11:108267235

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA6265056

rs_587781808

3 SubmittersRCV000572582 RCV000699443

NM_000051.4(ATM):c.73-1G>A

SNV
Germline

Chr11:108227775

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382519448

rs_1555054043

4 SubmittersRCV000561977 RCV001047640 RCV003465197

NM_000051.4(ATM):c.1884A>G (p.Gln628=)

SNV
Germline

Chr11:108252898

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA476672252

rs_1555072578

3 SubmittersRCV000566612 RCV000628072

NM_000051.4(ATM):c.2812C>G (p.Pro938Ala)

SNV
Germline

Chr11:108268583

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA382545731

rs_1415567368

3 SubmittersRCV000564514 RCV001215408

NM_000051.4(ATM):c.2838+1G>T

SNV
Germline

Chr11:108268610

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382545873

rs_1555083469

4 SubmittersRCV000563240 RCV000628011 RCV003459314

NM_000051.4(ATM):c.186-1G>A

SNV
Germline

Chr11:108229177

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382520987

rs_1259911051

3 SubmittersRCV000573660 RCV000810797 RCV003459312

NM_000051.4(ATM):c.392C>A (p.Ser131Ter)

SNV
Germline

Chr11:108235730

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382524896

rs_1363726955

2 SubmittersRCV000565303 RCV002528971

NM_000051.4(ATM):c.2536C>G (p.Leu846Val)

SNV
Germline

Chr11:108267240

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA382543586

rs_1555082186

3 SubmittersRCV000566965 RCV000697660

NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter)

SNV
Germline

Chr11:108292769

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382533971

rs_1555100005

6 SubmittersRCV000575921 RCV000627912 RCV002289774

NM_000051.4(ATM):c.1083C>T (p.Thr361=)

SNV
Germline

Chr11:108248950

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA476671648

rs_1555069552

2 SubmittersRCV000573015 RCV003500555

NM_000051.4(ATM):c.1091T>C (p.Leu364Ser)

SNV
Germline

Chr11:108248958

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA382532363

rs_1555069575

2 SubmittersRCV000573582 RCV001858236

NM_000051.4(ATM):c.1130C>G (p.Ser377Cys)

SNV
Germline

Chr11:108248997

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA382532444

rs_1555069665

3 SubmittersRCV000575478 RCV000627864

NM_000051.4(ATM):c.1235+3A>G

SNV
Germline

Chr11:108249105

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA602132545

rs_1417190414

7 SubmittersRCV000570921 RCV000698429 RCV003465220 RCV004721451

NM_000051.4(ATM):c.4797A>C (p.Ser1599=)

SNV
Germline

Chr11:108294947

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382536366

rs_1371876868

4 SubmittersRCV000562359 RCV003605641 RCV004592676

NM_000051.4(ATM):c.3403-1G>A

SNV
Germline

Chr11:108280994

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382518811

rs_1555091120

2 SubmittersRCV000571900 RCV001858067

NM_000051.4(ATM):c.1343A>G (p.His448Arg)

SNV
Germline

Chr11:108250808

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA382533748

rs_1555070781

2 SubmittersRCV000566516 RCV001343094

NM_000051.4(ATM):c.398A>G (p.Asn133Ser)

SNV
Germline

Chr11:108235736

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA382524935

rs_730881330

3 SubmittersRCV000575108 RCV001348023 RCV004760600

NM_000051.4(ATM):c.567A>G (p.Arg189=)

SNV
Germline

Chr11:108244023

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA476671434

rs_1555066398

4 SubmittersRCV000562303 RCV000928055 RCV005000230 RCV004592620

NM_000051.4(ATM):c.2075G>T (p.Arg692Leu)

SNV
Germline

Chr11:108253990

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Breast carcinoma
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA382537546

rs_751515818

4 SubmittersRCV000567410 RCV000678465 RCV001343069 RCV001764649

NM_000051.4(ATM):c.2141C>T (p.Thr714Ile)

SNV
Germline

Chr11:108256231

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA382538703

rs_1555074846

4 SubmittersRCV000569489 RCV000816814

NM_000051.4(ATM):c.680C>T (p.Ser227Leu)

SNV
Germline

Chr11:108244805

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6264666

rs_762998620

8 SubmittersRCV000569541 RCV000796269 RCV002222556 RCV003493663 RCV004776440

NM_000051.4(ATM):c.4947C>T (p.Val1649=)

SNV
Germline

Chr11:108297324

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA476674603

rs_1436324961

4 SubmittersRCV000562868 RCV001433564 RCV004592771 RCV004592770

NM_000051.4(ATM):c.2250+2T>C

SNV
Germline

Chr11:108256342

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382539329

rs_1555075037

4 SubmittersRCV000572322 RCV000821503 RCV003470805

NM_000051.4(ATM):c.5763-2A>G

SNV
Germline

Chr11:108310158

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382548271

rs_876659489

2 SubmittersRCV000569324 RCV001865741

NM_000051.4(ATM):c.2579A>G (p.Asp860Gly)

SNV
Germline

Chr11:108267283

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA228406449

rs_761251711

5 SubmittersRCV000563848 RCV000627857 RCV001770508 RCV003476327

NM_000051.4(ATM):c.5320-5T>C

SNV
Germline

Chr11:108302848

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658656252

rs_1555106308

4 SubmittersRCV000564882 RCV000939079 RCV004592765

NM_000051.4(ATM):c.2716T>A (p.Leu906Met)

SNV
Germline

Chr11:108268487

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA382545292

rs_368047468

6 SubmittersRCV000562509 RCV000628118 RCV000679106 RCV003321672

NM_000051.4(ATM):c.6027C>G (p.Tyr2009Ter)

SNV
Germline

Chr11:108315843

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382549871

rs_1555113567

3 SubmittersRCV000567406 RCV001385545

NM_000051.4(ATM):c.1063C>T (p.Gln355Ter)

SNV
Germline

Chr11:108247125

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382531853

rs_1555068615

3 SubmittersRCV000568389 RCV001233528 RCV004024514

NM_000051.4(ATM):c.1121A>G (p.Gln374Arg)

SNV
Germline

Chr11:108248988

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA382532423

rs_1555069640

2 SubmittersRCV000566237 RCV001858238

NM_000051.4(ATM):c.1176C>T (p.Gly392=)

SNV
Germline

Chr11:108249043

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA476671760

rs_1800727

3 SubmittersRCV000574348 RCV001248195 RCV004592727

NM_000051.4(ATM):c.1537C>T (p.Gln513Ter)

SNV
Germline/somatic

Chr11:108251002

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Malignant tumor of urinary bladder
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA228391108

rs_865985297

5 SubmittersRCV000568251 RCV001865739 RCV003332200 RCV004024469

NM_000051.4(ATM):c.2922-5C>T

SNV
Germline

Chr11:108271246

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658656159

rs_1452462211

4 SubmittersRCV000562081 RCV001499849 RCV004592660

NM_000051.4(ATM):c.5888A>G (p.Asp1963Gly)

SNV
Germline

Chr11:108310285

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA382548540

rs_1555110484

3 SubmittersRCV000561373 RCV000685483 RCV004701655

NM_000051.4(ATM):c.3043C>T (p.Gln1015Ter)

SNV
Germline

Chr11:108271372

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382547577

rs_1555085210

4 SubmittersRCV000574063 RCV001057983 RCV003459341

NM_000051.4(ATM):c.3196A>C (p.Lys1066Gln)

SNV
Germline

Chr11:108272764

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382515718

rs_1555086041

5 SubmittersRCV000561731 RCV001054716 RCV003222048 RCV004787948

NM_000051.4(ATM):c.6199-5T>A

SNV
Germline

Chr11:108317368

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA658656197

rs_1555114533

3 SubmittersRCV000569340 RCV000697173

NM_000051.4(ATM):c.3576+1G>T

SNV
Germline

Chr11:108281169

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382520835

rs_876660621

2 SubmittersRCV000573610 RCV001858070

NM_000051.4(ATM):c.3577-5T>C

SNV
Germline

Chr11:108282705

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA658656222

rs_1555092229

2 SubmittersRCV000572934 RCV002528098

NM_000051.4(ATM):c.2376+1G>C

SNV
Germline

Chr11:108257607

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA382540429

rs_730881347

4 SubmittersRCV000565146 RCV002528970 RCV004024515 RCV004696951

NM_000051.4(ATM):c.2527A>G (p.Asn843Asp)

SNV
Germline

Chr11:108267231

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA382543523

rs_1162447958

2 SubmittersRCV000566936 RCV003500558

NM_000051.4(ATM):c.6869A>C (p.Glu2290Ala)

SNV
Germline

Chr11:108326119

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382556767

rs_1555119842

6 SubmittersRCV000569743 RCV001240932 RCV003459275

NM_000051.4(ATM):c.2722G>A (p.Val908Ile)

SNV
Germline

Chr11:108268493

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA382545317

rs_1190648236

3 SubmittersRCV000568746 RCV003465225 RCV003607315

NM_000051.4(ATM):c.6913C>T (p.Gln2305Ter)

SNV
Germline

Chr11:108326163

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382557041

rs_1282099124

5 SubmittersRCV000575199 RCV001208902 RCV001798899 RCV004024500

NM_000051.4(ATM):c.2902G>T (p.Glu968Ter)

SNV
Germline

Chr11:108271127

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382546939

rs_1555084723

2 SubmittersRCV000568610 RCV001388987

NM_000051.4(ATM):c.8050C>T (p.Gln2684Ter)

SNV
Germline

Chr11:108335008

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Abnormal central motor function
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA382561922

rs_1555127102

7 SubmittersRCV000571748 RCV001225686 RCV001814187 RCV003459274 RCV003151789

NM_000051.4(ATM):c.2922-4A>G

SNV
Germline

Chr11:108271247

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658656160

rs_1555084924

4 SubmittersRCV000570633 RCV001461397 RCV004592619

NM_000051.4(ATM):c.4777-3T>C

SNV
Germline

Chr11:108294924

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA601721465

rs_1468242174

4 SubmittersRCV000568823 RCV000628271 RCV004592692

NM_000051.4(ATM):c.7739G>A (p.Arg2580Lys)

SNV
Germline

Chr11:108331988

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6266172

rs_761790685

5 SubmittersRCV000564504 RCV001218403 RCV005000228

NM_000051.4(ATM):c.4885G>A (p.Val1629Met)

SNV
Germline

Chr11:108295035

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA382537189

rs_876660748

2 SubmittersRCV000570867 RCV001326586

NM_000051.4(ATM):c.8418+5G>A

SNV
Germline

Chr11:108343376

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA601698826

rs_1305740166

3 SubmittersRCV000566313 RCV001234263 RCV003470809

NM_000051.4(ATM):c.8418+5G>T

SNV
Germline

Chr11:108343376

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA601698827

rs_1305740166

3 SubmittersRCV000570679 RCV000628150

NM_000051.4(ATM):c.4909+3G>A

SNV
Germline

Chr11:108295062

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided
Familial cancer of breast
Breast-ovarian cancer, familial, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA6265572

rs_778685122

9 SubmittersRCV000562529 RCV000628184 RCV001194330 RCV001584367 RCV004592611 RCV004669045

NM_000051.4(ATM):c.7921C>T (p.Gln2641Ter)

SNV
Germline

Chr11:108332894

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6266213

rs_769523686

7 SubmittersRCV000574436 RCV000657754 RCV000628076 RCV003465192

NM_000051.4(ATM):c.4975A>G (p.Ile1659Val)

SNV
Germline

Chr11:108297352

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265589

rs_778632065

6 SubmittersRCV000568872 RCV000812463 RCV001538998 RCV001764634

NM_000051.4(ATM):c.8010+5T>A

SNV
Germline

Chr11:108333973

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA228419803

rs_56256497

3 SubmittersRCV000561163 RCV000824046 RCV003225089

NM_000051.4(ATM):c.5065C>T (p.Gln1689Ter)

SNV
Germline

Chr11:108299773

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382540526

rs_1555104609

5 SubmittersRCV000562426 RCV000627893 RCV003470811

NM_000051.4(ATM):c.8150A>G (p.Lys2717Arg)

SNV
Germline

Chr11:108335108

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382562265

rs_1555127353

4 SubmittersRCV000572136 RCV003500553 RCV004024472

NM_000051.4(ATM):c.3403-3A>C

SNV
Germline

Chr11:108280992

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA6265290

rs_374866638

6 SubmittersRCV000561623 RCV000628193 RCV004592652 RCV004553264

NM_000051.4(ATM):c.8268G>T (p.Lys2756Asn)

SNV
Germline

Chr11:108335961

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA382562703

rs_1555128642

5 SubmittersRCV000564312 RCV001213681 RCV003465195 RCV003229841

NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter)

SNV
Germline/somatic

Chr11:108307914

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Malignant tumor of urinary bladder
Gastric cancer
Familial cancer of breast
ATM-related cancer predisposition

Reviewed By Expert Panel

CA6265757

rs_775036118

14 SubmittersRCV000571941 RCV000671308 RCV002255463 RCV003332201 RCV003159965 RCV003465216 RCV005001082

NM_000051.4(ATM):c.8482C>G (p.Gln2828Glu)

SNV
Germline

Chr11:108345806

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA382518054

rs_1555138125

3 SubmittersRCV000567443 RCV000806553

NM_000051.4(ATM):c.5762+1G>A

SNV
Germline

Chr11:108307985

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382548029

rs_869312756

7 SubmittersRCV000572451 RCV000693089 RCV002305508 RCV003476328

NM_000051.4(ATM):c.5763-5T>C

SNV
Germline

Chr11:108310155

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658656269

rs_1555110219

3 SubmittersRCV000561688 RCV002060455 RCV004592749

NM_000051.4(ATM):c.5918G>A (p.Arg1973Lys)

SNV
Germline

Chr11:108310315

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382548611

rs_1555110591

5 SubmittersRCV000566553 RCV000627987 RCV003465193

NM_000051.4(ATM):c.5935G>T (p.Glu1979Ter)

SNV
Germline

Chr11:108312427

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382548661

rs_1555111763

3 SubmittersRCV000570576 RCV001038293 RCV003459343

NM_000051.4(ATM):c.6016T>G (p.Leu2006Val)

SNV
Germline

Chr11:108315832

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA382549810

rs_1555113531

3 SubmittersRCV000565498 RCV001298160 RCV004760604

NM_000051.4(ATM):c.9006C>G (p.Phe3002Leu)

SNV
Germline

Chr11:108365343

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA382530924

rs_540172506

3 SubmittersRCV000570075 RCV001312732

NM_000051.4(ATM):c.4436+2T>C

SNV
Germline

Chr11:108289803

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382532302

rs_1555097898

3 SubmittersRCV000573320 RCV000628004

NM_000051.4(ATM):c.6586A>T (p.Arg2196Ter)

SNV
Germline

Chr11:108325323

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382554668

rs_1555119011

4 SubmittersRCV000571629 RCV000576576 RCV004024499

NM_000051.4(ATM):c.6868G>C (p.Glu2290Gln)

SNV
Germline

Chr11:108326118

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA382556762

rs_1479339581

3 SubmittersRCV000572551 RCV001337338 RCV003114680

NM_000051.4(ATM):c.4776+1G>T

SNV
Germline

Chr11:108293478

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6265538

rs_771117943

7 SubmittersRCV000573615 RCV000669160 RCV001560132 RCV003470803

NM_000051.4(ATM):c.4777-4T>C

SNV
Germline

Chr11:108294923

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265556

rs_756025941

3 SubmittersRCV000562207 RCV001462822 RCV004592610

NM_000051.4(ATM):c.7355T>C (p.Leu2452Pro)

SNV
Germline

Chr11:108330261

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA382559953

rs_1555123032

5 SubmittersRCV000572756 RCV000671090 RCV002298670

NM_000051.4(ATM):c.4909+1G>A

SNV
Germline

Chr11:108295060

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6265571

rs_756987454

4 SubmittersRCV000566360 RCV000628067 RCV004024452

NM_000051.4(ATM):c.5319+2T>C

SNV
Germline

Chr11:108301791

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382542858

rs_1555105842

9 SubmittersRCV000565533 RCV000801687 RCV002060383 RCV003155950

NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter)

SNV
Germline

Chr11:108302859

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382543040

rs_1555106321

8 SubmittersRCV000564720 RCV000657611 RCV001218574 RCV002497210 RCV004024502

NM_000051.4(ATM):c.7928-3C>T

SNV
Germline

Chr11:108333883

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA658656184

rs_1555126153

3 SubmittersRCV000568080 RCV001867854

NM_000051.4(ATM):c.5551C>T (p.Leu1851Phe)

SNV
Germline

Chr11:108304729

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6265727

rs_200842502

4 SubmittersRCV000565602 RCV001231064 RCV001591332

NM_000051.4(ATM):c.5683C>A (p.His1895Asn)

SNV
Germline

Chr11:108307905

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA382547751

rs_766901049

5 SubmittersRCV000572229 RCV001208305 RCV003459340 RCV003227795

NM_000051.4(ATM):c.6096-3T>C

SNV
Germline

Chr11:108316008

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial ovarian cancer
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265865

rs_748380897

6 SubmittersRCV000572845 RCV000628094 RCV001355568 RCV003237939 RCV004592763

NM_000051.4(ATM):c.6163A>G (p.Ile2055Val)

SNV
Germline

Chr11:108316078

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6265870

rs_758038580

5 SubmittersRCV000575718 RCV001208530 RCV001779010 RCV004592684

NM_000051.4(ATM):c.6199-3T>C

SNV
Germline

Chr11:108317370

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA601724935

rs_1318760213

3 SubmittersRCV000567488 RCV001370807 RCV004592682

NM_000051.4(ATM):c.6277C>T (p.Pro2093Ser)

SNV
Germline

Chr11:108317451

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA228403260

rs_946942912

5 SubmittersRCV000571659 RCV000797659 RCV003459269

NM_000051.4(ATM):c.6289G>T (p.Glu2097Ter)

SNV
Germline

Chr11:108317463

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382552045

rs_1555114737

5 SubmittersRCV000563760 RCV001384267 RCV004024450

NM_000051.4(ATM):c.6330C>G (p.Asp2110Glu)

SNV
Germline

Chr11:108317504

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA6265904

rs_759029705

2 SubmittersRCV000574099 RCV001350510

NM_000051.4(ATM):c.6347+4A>G

SNV
Germline

Chr11:108317525

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA601725089

rs_1342227995

3 SubmittersRCV000567413 RCV000602437 RCV000698588

NM_000051.4(ATM):c.9022C>G (p.Arg3008Gly)

SNV
Germline

Chr11:108365359

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA382531129

rs_587782292

2 SubmittersRCV000564180 RCV001210907

NM_000051.4(ATM):c.6699C>T (p.Ile2233=)

SNV
Germline

Chr11:108325436

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA476745440

rs_1555119149

4 SubmittersRCV000565261 RCV001469993 RCV004592646 RCV004772998

NM_000051.4(ATM):c.7089+1G>A

SNV
Germline

Chr11:108327759

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA228414402

rs_777741666

3 SubmittersRCV000571077 RCV001210847 RCV004024513

NM_000051.4(ATM):c.7099G>C (p.Val2367Leu)

SNV
Germline

Chr11:108329030

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382559394

rs_1060501647

4 SubmittersRCV000574066 RCV001217694 RCV004569091

NM_000051.4(ATM):c.7308-1G>C

SNV
Germline

Chr11:108330213

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382559857

rs_1555122941

4 SubmittersRCV000566704 RCV001858241 RCV003465226

NM_000051.4(ATM):c.7928-1G>A

SNV
Germline

Chr11:108333885

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA382561649

rs_1555126163

3 SubmittersRCV000568827 RCV000821107 RCV003329311

NM_000051.4(ATM):c.8010+5T>G

SNV
Germline

Chr11:108333973

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658656202

rs_56256497

4 SubmittersRCV000573344 RCV000628169 RCV004592740

NM_000051.4(ATM):c.8267A>G (p.Lys2756Arg)

SNV
Germline

Chr11:108335960

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382562700

rs_1555128635

3 SubmittersRCV000569218 RCV001220325 RCV004569141

NM_000051.4(ATM):c.8269-5T>G

SNV
Germline

Chr11:108343217

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA658656234

rs_1555135331

3 SubmittersRCV000562682 RCV001243643

NM_000051.4(ATM):c.331+1G>A

SNV
Germline

Chr11:108229324

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382521837

rs_1555055356

8 SubmittersRCV000576405 RCV000777474 RCV000788912 RCV003459414

NM_000051.4(ATM):c.8725A>T (p.Arg2909Ter)

SNV
Germline

Chr11:108353819

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382523884

rs_1555142845

5 SubmittersRCV000576664 RCV002448810 RCV003459413

NM_000051.4(ATM):c.5G>A (p.Ser2Asn)

SNV
Germline

Chr11:108227629

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382518922

rs_730881360

7 SubmittersRCV000579727 RCV000821860 RCV001569149 RCV004689801 RCV004568254

NM_000051.4(ATM):c.5319+7T>A

SNV
Germline

Chr11:108301796

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA228387683

rs_925428128

5 SubmittersRCV000579917 RCV000628276 RCV004592785 RCV004553294 RCV005000335

NM_000051.4(ATM):c.5675-13T>A

SNV
Germline

Chr11:108307884

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA6265754

rs_373219694

4 SubmittersRCV000581032 RCV001811082 RCV002060551

NM_000051.4(ATM):c.2839-8C>A

SNV
Germline

Chr11:108271056

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA658683758

rs_1555084596

2 SubmittersRCV000580678 RCV001471663

NM_000051.4(ATM):c.5994A>T (p.Gly1998=)

SNV
Germline

Chr11:108312486

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265812

rs_56046250

5 SubmittersRCV000580862 RCV000829167 RCV000807523 RCV004592786

NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser)

SNV
Germline

Chr11:108317377

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382551029

rs_1555114558

8 SubmittersRCV000579619 RCV000779043 RCV003336057

NM_000051.4(ATM):c.-15C>T

SNV
Germline

Chr11:108227610

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA658683694

rs_1204830852

3 SubmittersRCV000582426 RCV000988635 RCV004596286

NM_000051.4(ATM):c.1800C>T (p.His600=)

SNV
Germline

Chr11:108252029

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA6264868

rs_750715942

5 SubmittersRCV000583999 RCV000588595 RCV003465297 RCV003500569

NM_000051.4(ATM):c.2251-3T>C

SNV
Germline

Chr11:108257478

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6264988

rs_752951518

5 SubmittersRCV000582636 RCV001059458 RCV004592812 RCV004592813

NM_000051.4(ATM):c.2262A>G (p.Gln754=)

SNV
Germline

Chr11:108257492

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6264989

rs_778320952

5 SubmittersRCV000582538 RCV000702900 RCV004592815

NM_000051.4(ATM):c.2376+1G>A

SNV
Germline

Chr11:108257607

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382540432

rs_730881347

6 SubmittersRCV000583695 RCV001224699 RCV001726253 RCV003465298

NM_000051.4(ATM):c.2465T>A (p.Leu822Ter)

SNV
Germline

Chr11:108259074

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382541426

rs_1442299125

5 SubmittersRCV000581413 RCV001860063 RCV003403371 RCV004024630

NM_000051.4(ATM):c.2838+10G>A

SNV
Germline

Chr11:108268619

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658683757

rs_1555083482

4 SubmittersRCV000582058 RCV000600988 RCV000925335 RCV004592824

NM_000051.4(ATM):c.2467-2A>C

SNV
Germline

Chr11:108267169

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382543075

rs_1555082050

6 SubmittersRCV000583860 RCV000672642 RCV004024631

NM_000051.4(ATM):c.2734C>T (p.Gln912Ter)

SNV
Germline

Chr11:108268505

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6265104

rs_764409952

4 SubmittersRCV000583244 RCV001232394 RCV004024632

NM_000051.4(ATM):c.185+6C>G

SNV
Germline

Chr11:108227894

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA658683703

rs_1555054299

2 SubmittersRCV000584279 RCV001860062

NM_000051.4(ATM):c.471T>A (p.Cys157Ter)

SNV
Germline

Chr11:108235809

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382525531

rs_1555059459

2 SubmittersRCV000584528 RCV002497227

NM_000051.4(ATM):c.4910-2A>T

SNV
Germline

Chr11:108297285

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA382537928

rs_1555103156

3 SubmittersRCV000581766 RCV001377222

NM_000051.4(ATM):c.3576G>T (p.Lys1192Asn)

SNV
Germline

Chr11:108281168

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382520816

rs_587776551

4 SubmittersRCV000583698 RCV001241162 RCV004024633

NM_000051.4(ATM):c.3747-16A>G

SNV
Germline

Chr11:108284211

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658683111

rs_1555093241

4 SubmittersRCV000583850 RCV000608511 RCV001860064 RCV003471927

NM_000051.4(ATM):c.1899-16T>A

SNV
Germline

Chr11:108253798

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA601695853

rs_1352009139

3 SubmittersRCV000583758 RCV001584398 RCV002060580

NM_000051.4(ATM):c.4237-8T>C

SNV
Germline

Chr11:108289594

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265428

rs_750427647

5 SubmittersRCV000581253 RCV000628247 RCV000842153 RCV004592840

NM_000051.4(ATM):c.5897G>A (p.Ser1966Asn)

SNV
Germline

Chr11:108310294

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA382548560

rs_1555110520

5 SubmittersRCV000584470 RCV000812625

NM_000051.4(ATM):c.6615G>A (p.Trp2205Ter)

SNV
Germline

Chr11:108325352

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382554733

rs_1555119041

4 SubmittersRCV000583749 RCV000762826 RCV001853900 RCV004024641

NM_000051.4(ATM):c.2839-7A>G

SNV
Germline

Chr11:108271057

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA602132590

rs_1445472389

5 SubmittersRCV000582384 RCV000613445 RCV001499375 RCV004592825

NM_000051.4(ATM):c.2922-1G>T

SNV
Germline

Chr11:108271250

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382547064

rs_1555084931

6 SubmittersRCV000581238 RCV000667991 RCV003451297

NM_000051.4(ATM):c.6453-15C>T

SNV
Germline

Chr11:108321286

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265948

rs_763296454

5 SubmittersRCV000581693 RCV000603363 RCV001107551 RCV004592869

NM_000051.4(ATM):c.1607+20T>C

SNV
Germline

Chr11:108251092

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA658683711

rs_1555071308

3 SubmittersRCV000584496 RCV002060576

NM_000051.4(ATM):c.7777C>T (p.Gln2593Ter)

SNV
Germline

Chr11:108332026

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA6266176

rs_781215442

2 SubmittersRCV000581671 RCV000628122

NM_000051.4(ATM):c.1899-1G>A

SNV
Germline

Chr11:108253813

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382536246

rs_1555073065

3 SubmittersRCV000581303 RCV002529179 RCV004024628

NM_000051.4(ATM):c.8152-2A>G

SNV
Germline

Chr11:108335843

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA6266312

rs_777602049

3 SubmittersRCV000581351 RCV002529202 RCV004024642

NM_000051.4(ATM):c.2250+13A>G

SNV
Germline

Chr11:108256353

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA658683737

rs_1290519111

3 SubmittersRCV000581249 RCV003767296

NM_000051.4(ATM):c.2567A>G (p.Asn856Ser)

SNV
Germline

Chr11:108267271

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA382543835

rs_1555082253

3 SubmittersRCV000584604 RCV001320169

NM_000051.4(ATM):c.6347+6A>C

SNV
Germline

Chr11:108317527

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6265909

rs_750501197

3 SubmittersRCV000583289 RCV000801369 RCV001704690

NM_000051.4(ATM):c.8152-16C>G

SNV
Germline

Chr11:108335829

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA658683776

rs_1555128173

2 SubmittersRCV000582430 RCV001860069

NM_000051.4(ATM):c.3402+16A>G

SNV
Germline

Chr11:108279624

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265275

rs_763382531

5 SubmittersRCV000581378 RCV000590240 RCV002060596 RCV003316756

NM_000051.4(ATM):c.7089+5G>A

SNV
Germline

Chr11:108327763

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA658683745

rs_1351209504

3 SubmittersRCV000583544 RCV002529195

NM_000051.4(ATM):c.8056T>C (p.Phe2686Leu)

SNV
Germline

Chr11:108335014

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA382561941

rs_1555127125

3 SubmittersRCV000582097 RCV000706251

NM_000051.4(ATM):c.5628C>A (p.His1876Gln)

SNV
Germline

Chr11:108304806

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA382546372

rs_1237700879

4 SubmittersRCV000584389 RCV000627881

NM_000051.4(ATM):c.8672-6C>A

SNV
Germline

Chr11:108353760

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA658683722

rs_1555142794

2 SubmittersRCV000582693 RCV003767297

NM_000051.4(ATM):c.6181C>T (p.Gln2061Ter)

SNV
Germline

Chr11:108316096

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382550728

rs_1555113845

4 SubmittersRCV000583766 RCV001381514 RCV004024639

NM_000051.4(ATM):c.6572+11C>T

SNV
Germline

Chr11:108321431

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA6265970

rs_368049107

4 SubmittersRCV000584458 RCV001662627 RCV002061675

NM_000051.4(ATM):c.6841T>C (p.Tyr2281His)

SNV
Germline

Chr11:108326091

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA382556640

rs_1291249685

4 SubmittersRCV000584516 RCV001210197

NM_000051.4(ATM):c.7928-2A>G

SNV
Germline

Chr11:108333884

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Gastric cancer

Criteria Provided
Conflicting Classifications

CA382561648

rs_864622610

4 SubmittersRCV000581443 RCV001860068 RCV003159978

NM_000051.4(ATM):c.8419-8A>G

SNV
Germline

Chr11:108345735

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6266369

rs_567215034

5 SubmittersRCV000583342 RCV000628209 RCV001549526 RCV001821699 RCV004592887

NM_000051.4(ATM):c.8546G>C (p.Arg2849Pro)

SNV
Germline

Chr11:108345870

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Reviewed By Expert Panel

CA382518439

rs_587782202

7 SubmittersRCV000582030 RCV000805253 RCV002221560 RCV002280130

NM_000051.4(ATM):c.157A>T (p.Lys53Ter)

SNV
Germline

Chr11:108227860

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382520363

rs_876659078

4 SubmittersRCV000588106 RCV002404590 RCV004024668

NM_000051.4(ATM):c.1901A>T (p.Glu634Val)

SNV
Germline

Chr11:108253816

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA382536268

rs_1555073069

4 SubmittersRCV000586643 RCV001860116 RCV002413661 RCV003465321

NM_000051.4(ATM):c.3994-9C>T

SNV
Germline

Chr11:108287591

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
ATM-related disorder
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265383

rs_767111803

6 SubmittersRCV000589533 RCV001078690 RCV001191541 RCV004553304 RCV004592900

NM_000051.4(ATM):c.3746+4A>C

SNV
Germline

Chr11:108282883

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA658795359

rs_1555092593

4 SubmittersRCV000605869 RCV000809179 RCV002350455 RCV001508323

NM_000051.4(ATM):c.5762+6G>A

SNV
Germline

Chr11:108307990

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
ATM-related disorder

Criteria Provided
Conflicting Classifications

CA6265765

rs_776532221

5 SubmittersRCV000607236 RCV000777923 RCV000823989 RCV004547753

NM_000051.4(ATM):c.5919-13T>C

SNV
Germline

Chr11:108312398

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658797761

rs_1555111740

4 SubmittersRCV001525232 RCV001821736 RCV002062995 RCV004592912

NM_000051.4(ATM):c.185+10T>C

SNV
Germline

Chr11:108227898

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658797775

rs_1555054317

5 SubmittersRCV000608421 RCV001179640 RCV000873892 RCV004592944

NM_000051.4(ATM):c.7090-14G>A

SNV
Germline

Chr11:108329007

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658797766

rs_1486032156

4 SubmittersRCV000610451 RCV001181867 RCV002065238 RCV004592928

NM_000051.4(ATM):c.7794A>C (p.Arg2598=)

SNV
Germline

Chr11:108332767

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA476677312

rs_1555125220

5 SubmittersRCV000604474 RCV000927280 RCV001026813 RCV004592942 RCV005000384

NM_000051.4(ATM):c.1236-3T>C

SNV
Germline

Chr11:108250698

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA658797786

rs_763976313

4 SubmittersRCV000808804 RCV000615725 RCV004592914 RCV004024920

NM_000051.4(ATM):c.2748G>T (p.Val916=)

SNV
Germline

Chr11:108268519

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA228407709

rs_1050470790

5 SubmittersRCV001016478 RCV000627946 RCV004719097 RCV004592936

NM_000051.4(ATM):c.10G>A (p.Val4Ile)

SNV
Germline

Chr11:108227634

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA382518937

rs_1438588853

2 SubmittersRCV000627990 RCV001017298

NM_000051.4(ATM):c.737A>G (p.Asn246Ser)

SNV
Germline

Chr11:108244862

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6264676

rs_781023264

8 SubmittersRCV000628206 RCV000779770 RCV001311783 RCV002257863 RCV003459481

NM_000051.4(ATM):c.2434A>G (p.Met812Val)

SNV
Germline

Chr11:108259043

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
ATM-related disorder
Ovarian cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA228399932

rs_112357985

6 SubmittersRCV000628148 RCV001190867 RCV004547764 RCV003153765 RCV003317304

NM_000051.4(ATM):c.3499A>G (p.Ile1167Val)

SNV
Germline

Chr11:108281091

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA382519746

rs_1222634243

4 SubmittersRCV000776375 RCV000627846

NM_000051.4(ATM):c.4612G>T (p.Val1538Leu)

SNV
Germline

Chr11:108293313

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA228379070

rs_1034235291

8 SubmittersRCV000628017 RCV001562374 RCV002334041 RCV004568345

NM_000051.4(ATM):c.5178-7T>C

SNV
Germline

Chr11:108301641

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA658797740

rs_1555105564

4 SubmittersRCV000628294 RCV001766333 RCV003150312 RCV004588041

NM_000051.4(ATM):c.6115G>T (p.Glu2039Ter)

SNV
Germline

Chr11:108316030

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

CA382550391

rs_864622251

1 SubmittersRCV000628100

NM_000051.4(ATM):c.3307G>A (p.Asp1103Asn)

SNV
Germline

Chr11:108279513

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA382517376

rs_1555090114

3 SubmittersRCV000628109 RCV001019842 RCV003229849

NM_000051.4(ATM):c.6843C>G (p.Tyr2281Ter)

SNV
Germline

Chr11:108326093

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382556650

rs_1555119797

4 SubmittersRCV000628154 RCV002360487 RCV004721498 RCV004025309

NM_000051.4(ATM):c.4202T>A (p.Leu1401Ter)

SNV
Germline

Chr11:108289069

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382530357

rs_1555096975

2 SubmittersRCV000628046 RCV004025302

NM_000051.4(ATM):c.7917G>A (p.Lys2639=)

SNV
Germline

Chr11:108332890

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

CA476677473

rs_1555125501

3 SubmittersRCV000628256 RCV004588026 RCV005000393

NM_000051.4(ATM):c.8010+5T>C

SNV
Germline

Chr11:108333973

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA658797751

rs_56256497

2 SubmittersRCV000628093 RCV002420660

NM_000051.4(ATM):c.5695T>C (p.Cys1899Arg)

SNV
Germline

Chr11:108307917

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA6265758

rs_373213507

5 SubmittersRCV000777922 RCV000628014 RCV004568344

NM_000051.4(ATM):c.1088C>T (p.Ser363Phe)

SNV
Germline

Chr11:108248955

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA382532358

rs_1555069560

5 SubmittersRCV000628132 RCV001189987 RCV003162775

NM_000051.4(ATM):c.1126G>T (p.Glu376Ter)

SNV
Germline

Chr11:108248993

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382532436

rs_1555069657

2 SubmittersRCV000628138 RCV002448919

NM_000051.4(ATM):c.1501C>T (p.Gln501Ter)

SNV
Germline/somatic

Chr11:108250966

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Malignant tumor of urinary bladder

Criteria Provided
Multiple Submitters
No Conflicts

CA382534233

rs_1281817400

5 SubmittersRCV000627873 RCV001011901 RCV003326478 RCV003451482 RCV003332213

NM_000051.4(ATM):c.1930T>A (p.Ser644Thr)

SNV
Germline

Chr11:108253845

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA382536532

rs_1555073128

3 SubmittersRCV000628160 RCV002413784

NM_000051.4(ATM):c.2341C>T (p.Gln781Ter)

SNV
Germline

Chr11:108257571

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382540161

rs_1555075781

3 SubmittersRCV000627907 RCV002467450

NM_000051.4(ATM):c.3965T>C (p.Leu1322Pro)

SNV
Germline

Chr11:108284445

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA382526111

rs_786203306

3 SubmittersRCV001021541 RCV000628053

NM_000051.4(ATM):c.4415T>A (p.Leu1472Ter)

SNV
Germline

Chr11:108289780

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382532250

rs_772555314

2 SubmittersRCV000628130 RCV004025308

NM_000051.4(ATM):c.5354C>A (p.Pro1785His)

SNV
Germline

Chr11:108302887

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA382543281

rs_1555106368

2 SubmittersRCV000628117

NM_000051.4(ATM):c.7220C>A (p.Ser2407Ter)

SNV
Germline

Chr11:108329151

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382559660

rs_1555122149

5 SubmittersRCV000627953 RCV001185806 RCV003465370

NM_000051.4(ATM):c.498A>G (p.Glu166=)

SNV
Germline

Chr11:108243954

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA476671359

rs_587779842

3 SubmittersRCV000628218 RCV004588009 RCV002334042

NM_000051.4(ATM):c.574C>A (p.His192Asn)

SNV
Germline

Chr11:108244030

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6264632

rs_587780629

3 SubmittersRCV000627903 RCV001024478

NM_000051.4(ATM):c.709A>G (p.Thr237Ala)

SNV
Germline

Chr11:108244834

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA6264672

rs_376529329

4 SubmittersRCV000628113 RCV000777651

NM_000051.4(ATM):c.8403C>A (p.Cys2801Ter)

SNV
Germline

Chr11:108343356

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382516731

rs_1555135852

3 SubmittersRCV000628066 RCV004025303 RCV003162774

NM_000051.4(ATM):c.2467-2A>T

SNV
Germline

Chr11:108267169

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382543077

rs_1555082050

2 SubmittersRCV000627967 RCV001015629

NM_000051.4(ATM):c.2677C>T (p.Gln893Ter)

SNV
Germline

Chr11:108268448

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382545129

rs_1555083131

3 SubmittersRCV000628097 RCV002438616 RCV003459480

NM_000051.4(ATM):c.3078G>A (p.Trp1026Ter)

SNV
Germline/somatic

Chr11:108272532

Pathogenic

Ataxia-telangiectasia syndrome
Malignant tumor of urinary bladder

Criteria Provided
Single Submitter

CA382514980

rs_876660869

2 SubmittersRCV000628080 RCV003332214

NM_000051.4(ATM):c.4612-8A>G

SNV
Germline

Chr11:108293305

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA658797723

rs_1555100341

3 SubmittersRCV000628302 RCV004588044 RCV002256419

NM_000051.4(ATM):c.6006+1G>C

SNV
Germline

Chr11:108312499

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382548820

rs_786202016

4 SubmittersRCV000627911 RCV001185805 RCV004025296

NM_000051.4(ATM):c.6337A>G (p.Thr2113Ala)

SNV
Germline

Chr11:108317511

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA382552306

rs_1555114835

3 SubmittersRCV000627930 RCV002257861

NM_000051.4(ATM):c.6453-1G>C

SNV
Germline

Chr11:108321300

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382553804

rs_1555117071

2 SubmittersRCV000628171 RCV003139955

NM_000051.4(ATM):c.6710A>C (p.Lys2237Thr)

SNV
Germline

Chr11:108325447

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA228411993

rs_35118109

3 SubmittersRCV000628194 RCV001025565

NM_000051.4(ATM):c.7080T>G (p.Tyr2360Ter)

SNV
Germline

Chr11:108327749

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

CA382559168

rs_1555121147

1 SubmittersRCV000628115

NM_000051.4(ATM):c.7927+1G>C

SNV
Germline

Chr11:108332901

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA382561532

rs_1555125532

2 SubmittersRCV000627920 RCV004025299

NM_000051.4(ATM):c.8419-2A>G

SNV
Germline

Chr11:108345741

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

CA382517699

rs_1555137917

1 SubmittersRCV000628064

NM_000051.4(ATM):c.8786+2T>A

SNV
Germline

Chr11:108353882

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA382524492

rs_1555142918

2 SubmittersRCV000628191 RCV004025312

NM_000051.4(ATM):c.8941C>T (p.His2981Tyr)

SNV
Germline

Chr11:108365172

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA382530122

rs_1555151422

2 SubmittersRCV000628021 RCV004678768

NM_000051.4(ATM):c.392C>G (p.Ser131Ter)

SNV
Germline

Chr11:108235730

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1363726955

6 SubmittersRCV000657718 RCV001021461 RCV001054804 RCV003465428

NM_000051.4(ATM):c.8419G>T (p.Glu2807Ter)

SNV
Germline

Chr11:108345743

Pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555137929

4 SubmittersRCV000657598 RCV000813123 RCV003303087 RCV004026012

NM_000051.4(ATM):c.1065+1G>C

SNV
Germline

Chr11:108247128

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_201089102

2 SubmittersRCV000666613 RCV002406507

NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter)

SNV
Germline

Chr11:108289015

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_141087784

6 SubmittersRCV000668716 RCV001021947 RCV004026103 RCV004596324

NM_000051.4(ATM):c.4612-2A>C

SNV
Germline

Chr11:108293311

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary breast ovarian cancer syndrome
Lung cancer

Criteria Provided
Conflicting Classifications

rs_1555100347

4 SubmittersRCV000667617 RCV004026097 RCV004764796 RCV004555872

NM_000051.4(ATM):c.4612-1G>A

SNV
Germline

Chr11:108293312

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555100351

2 SubmittersRCV000666061

NM_000051.4(ATM):c.7788G>C (p.Glu2596Asp)

SNV
Germline

Chr11:108332037

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_587780639

7 SubmittersRCV000674257 RCV002406517 RCV003316796 RCV003332225

NM_000051.4(ATM):c.8585-2A>G

SNV
Germline

Chr11:108347277

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1060501700

3 SubmittersRCV000668705 RCV003303096 RCV004026102

NM_000051.4(ATM):c.2125-1G>A

SNV
Germline

Chr11:108256214

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1402299151

2 SubmittersRCV000667016

NM_000051.4(ATM):c.1066-2A>C

SNV
Unknown

Chr11:108248931

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1555069514

1 SubmittersRCV000666716

NM_000051.4(ATM):c.1066-1G>T

SNV
Unknown

Chr11:108248932

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_876660038

1 SubmittersRCV000672295

NM_000051.4(ATM):c.1235+1G>A

SNV
Germline

Chr11:108249103

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555069881

4 SubmittersRCV000668841 RCV003465485

NM_000051.4(ATM):c.1236-1G>A

SNV
Germline

Chr11:108250700

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1408719214

3 SubmittersRCV000672765 RCV004788102

NM_000051.4(ATM):c.4436+1G>T

SNV
Germline

Chr11:108289802

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555097894

3 SubmittersRCV000669742 RCV004026111

NM_000051.4(ATM):c.5919-2A>C

SNV
Germline

Chr11:108312409

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_746623393

2 SubmittersRCV000672955

NM_000051.4(ATM):c.7542T>G (p.Tyr2514Ter)

SNV
Germline

Chr11:108331470

Pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_777925486

5 SubmittersRCV000674615 RCV003442016

NM_000051.4(ATM):c.3154-1G>A

SNV
Germline

Chr11:108272721

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555085973

4 SubmittersRCV000672474 RCV001171403

NM_000051.4(ATM):c.7789G>T (p.Asp2597Tyr)

SNV
Germline

Chr11:108332762

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1555125212

2 SubmittersRCV000673806 RCV002406516

NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter)

SNV
Germline

Chr11:108345859

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Glioblastoma
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555138291

6 SubmittersRCV000671076 RCV000722036 RCV000991563 RCV003465507

NM_000051.4(ATM):c.8988-2A>C

SNV
Unknown

Chr11:108365323

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_786202087

1 SubmittersRCV000668318

NM_000051.4(ATM):c.9109C>T (p.Gln3037Ter)

SNV
Somatic

Chr11:108365446

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Malignant tumor of urinary bladder
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555152009

3 SubmittersRCV000673513 RCV003332224 RCV004026131

NM_000051.4(ATM):c.4777-13T>A

SNV
Germline

Chr11:108294914

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_371535082

5 SubmittersRCV000672245 RCV001187884 RCV003153797 RCV004588100

NM_000051.4(ATM):c.5177+5G>A

SNV
Germline

Chr11:108299890

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_759373136

7 SubmittersRCV000673901 RCV000777914 RCV003459643

NM_000051.4(ATM):c.5178-1G>A

SNV
Germline

Chr11:108301647

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555105579

6 SubmittersRCV000674911 RCV001023662 RCV004026138

NM_000051.4(ATM):c.5433T>A (p.Cys1811Ter)

SNV
Unknown

Chr11:108302966

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1555106493

1 SubmittersRCV000674312

NM_000051.4(ATM):c.1120C>T (p.Gln374Ter)

SNV
Germline

Chr11:108248987

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1185204988

6 SubmittersRCV000668668 RCV000762812 RCV001185328 RCV004026101

NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter)

SNV
Germline

Chr11:108272556

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Reviewed By Expert Panel

rs_780240314

4 SubmittersRCV000672308 RCV003985408

NM_000051.4(ATM):c.6899G>C (p.Trp2300Ser)

SNV
Germline

Chr11:108326149

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1555119899

3 SubmittersRCV000677225

NM_000051.4(ATM):c.6452+1G>T

SNV
Germline

Chr11:108320059

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1565509194

1 SubmittersRCV000679932

NM_000051.4(ATM):c.4432C>T (p.Gln1478Ter)

SNV
Germline

Chr11:108289797

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1368412801

5 SubmittersRCV000680217 RCV001022468 RCV003465548

NM_000051.4(ATM):c.497-1G>C

SNV
Germline

Chr11:108243952

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_778624615

3 SubmittersRCV000687478 RCV001176630 RCV004026265

NM_000051.4(ATM):c.2250+1G>A

SNV
Germline

Chr11:108256341

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565395193

5 SubmittersRCV000702192 RCV004026586 RCV004547869 RCV004669093

NM_000051.4(ATM):c.2321G>T (p.Gly774Val)

SNV
Germline

Chr11:108257551

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1555075727

3 SubmittersRCV000688006 RCV000772330

NM_000051.4(ATM):c.2989G>A (p.Val997Ile)

SNV
Germline

Chr11:108271318

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1487902875

3 SubmittersRCV000701054 RCV000776861

NM_000051.4(ATM):c.3167C>A (p.Ser1056Ter)

SNV
Germline

Chr11:108272735

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565428419

2 SubmittersRCV000687188 RCV004026258

NM_000051.4(ATM):c.4611+1G>A

SNV
Germline

Chr11:108292794

Likely pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565461840

2 SubmittersRCV000696736 RCV000994708

NM_000051.4(ATM):c.4909+1G>T

SNV
Germline

Chr11:108295060

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_756987454

3 SubmittersRCV000704443 RCV003362917 RCV004026662

NM_000051.4(ATM):c.6522C>T (p.Ser2174=)

SNV
Germline

Chr11:108321370

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_772850740

3 SubmittersRCV000697990 RCV001025369 RCV004588134

NM_000051.4(ATM):c.6898T>G (p.Trp2300Gly)

SNV
Germline

Chr11:108326148

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast

Criteria Provided
Conflicting Classifications

rs_1565520641

5 SubmittersRCV000693600 RCV000772397 RCV001356011

NM_000051.4(ATM):c.7629+1G>A

SNV
Germline

Chr11:108331558

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565532703

5 SubmittersRCV000704900 RCV001026637 RCV004026672

NM_000051.4(ATM):c.8268+5C>T

SNV
Germline

Chr11:108335966

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1565544035

3 SubmittersRCV000704122 RCV001027340

NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter)

SNV
Germline

Chr11:108365142

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Breast cancer, susceptibility to
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565607653

6 SubmittersRCV000706912 RCV000773913 RCV001258065 RCV003460987

NM_000051.4(ATM):c.484C>T (p.Gln162Ter)

SNV
Germline

Chr11:108235822

Pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565357383

4 SubmittersRCV000685533 RCV001093021 RCV003465556

NM_000051.4(ATM):c.597T>A (p.Cys199Ter)

SNV
Germline

Chr11:108244053

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565369633

4 SubmittersRCV000692604 RCV001024742 RCV003465585

NM_000051.4(ATM):c.1273G>T (p.Ala425Ser)

SNV
Germline

Chr11:108250738

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Hereditary cancer

Criteria Provided
Conflicting Classifications

rs_769214234

4 SubmittersRCV000685032 RCV001010688 RCV003492128

NM_000051.4(ATM):c.1608-1G>A

SNV
Germline

Chr11:108251836

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565385010

3 SubmittersRCV000689845 RCV001012403 RCV003163137

NM_000051.4(ATM):c.1608-1G>C

SNV
Germline

Chr11:108251836

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1565385010

1 SubmittersRCV000691053

NM_000051.4(ATM):c.2494C>G (p.Arg832Gly)

SNV
Germline

Chr11:108267198

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_2229022

3 SubmittersRCV000694461 RCV001015701 RCV004569321

NM_000051.4(ATM):c.2741A>G (p.Asn914Ser)

SNV
Germline

Chr11:108268512

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_141947469

4 SubmittersRCV000693030 RCV000771456 RCV001571988

NM_000051.4(ATM):c.2804C>A (p.Thr935Lys)

SNV
Germline

Chr11:108268575

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_3218708

4 SubmittersRCV000691001 RCV000777372

NM_000051.4(ATM):c.3436G>T (p.Glu1146Ter)

SNV
Germline

Chr11:108281028

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565441511

2 SubmittersRCV000701367 RCV002458287

NM_000051.4(ATM):c.6287A>G (p.Glu2096Gly)

SNV
Germline

Chr11:108317461

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1565503246

3 SubmittersRCV000703747 RCV000774979

NM_000051.4(ATM):c.6311G>A (p.Trp2104Ter)

SNV
Germline

Chr11:108317485

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1064794143

3 SubmittersRCV000705717 RCV002352211 RCV004026701

NM_000051.4(ATM):c.6573A>G (p.Arg2191=)

SNV
Germline

Chr11:108325310

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1565518004

3 SubmittersRCV000706839 RCV000773888

NM_000051.4(ATM):c.6890A>C (p.Gln2297Pro)

SNV
Germline

Chr11:108326140

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1565520560

2 SubmittersRCV000687278 RCV003163112

NM_000051.4(ATM):c.6975+1G>T

SNV
Germline

Chr11:108326226

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565521129

2 SubmittersRCV000691522 RCV001025866

NM_000051.4(ATM):c.7415A>G (p.Asn2472Ser)

SNV
Germline

Chr11:108330321

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1565529851

2 SubmittersRCV000686742 RCV001026408

NM_000051.4(ATM):c.7570G>T (p.Ala2524Ser)

SNV
Germline

Chr11:108331498

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_769142993

4 SubmittersRCV000702258 RCV000772608 RCV001759398

NM_000051.4(ATM):c.7788+1G>T

SNV
Germline

Chr11:108332038

Likely pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565534524

3 SubmittersRCV000684980 RCV001355283 RCV003278986

NM_000051.4(ATM):c.299T>A (p.Leu100Ter)

SNV
Germline

Chr11:108229291

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_761936549

3 SubmittersRCV000706123 RCV003141703

NM_000051.4(ATM):c.1898+1G>A

SNV
Germline

Chr11:108252913

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_758325274

2 SubmittersRCV000688133 RCV004026288

NM_000051.4(ATM):c.1905C>A (p.His635Gln)

SNV
Germline

Chr11:108253820

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1020808836

2 SubmittersRCV000698207 RCV004026437

NM_000051.4(ATM):c.1910A>G (p.Gln637Arg)

SNV
Germline

Chr11:108253825

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1565389611

3 SubmittersRCV000691021 RCV000773184

NM_000051.4(ATM):c.2125-2A>C

SNV
Germline

Chr11:108256213

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565394403

2 SubmittersRCV000687112 RCV004026256

NM_000051.4(ATM):c.2576A>G (p.Asn859Ser)

SNV
Germline

Chr11:108267280

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1565416655

3 SubmittersRCV000707214 RCV001772014 RCV002458324

NM_000051.4(ATM):c.2620G>T (p.Glu874Ter)

SNV
Germline

Chr11:108267324

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565416901

3 SubmittersRCV000698372 RCV003465603

NM_000051.4(ATM):c.4052T>A (p.Leu1351Ter)

SNV
Germline

Chr11:108287658

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1565452687

1 SubmittersRCV000706122

NM_000051.4(ATM):c.4957C>T (p.Gln1653Ter)

SNV
Germline

Chr11:108297334

Pathogenic

Ataxia-telangiectasia syndrome
Malignant tumor of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565469955

2 SubmittersRCV000690383 RCV003492130

NM_000051.4(ATM):c.5004A>G (p.Leu1668=)

SNV
Germline

Chr11:108297381

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_768565424

2 SubmittersRCV000701664 RCV001023404

NM_000051.4(ATM):c.8610T>C (p.Asp2870=)

SNV
Germline

Chr11:108347304

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1370524851

6 SubmittersRCV000697779 RCV001018087 RCV004588133 RCV004997189

NM_000051.4(ATM):c.8988-3T>C

SNV
Germline

Chr11:108365322

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1565608600

4 SubmittersRCV000701263 RCV001192208 RCV004588142

NM_000051.4(ATM):c.496G>T (p.Glu166Ter)

SNV
Germline

Chr11:108235834

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565357473

2 SubmittersRCV000687441 RCV003459673

NM_000051.4(ATM):c.680C>G (p.Ser227Ter)

SNV
Germline

Chr11:108244805

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_762998620

4 SubmittersRCV000704975 RCV002360820 RCV004026677

NM_000051.4(ATM):c.1547T>A (p.Leu516Ter)

SNV
Germline

Chr11:108251012

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_786202195

2 SubmittersRCV000699881 RCV004026492

NM_000051.4(ATM):c.1573A>T (p.Lys525Ter)

SNV
Germline

Chr11:108251038

Pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565383766

4 SubmittersRCV000694520 RCV001683630 RCV002388257 RCV004025199

NM_000051.4(ATM):c.3910A>G (p.Arg1304Gly)

SNV
Germline

Chr11:108284390

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1565447611

2 SubmittersRCV000706304 RCV003165921

NM_000051.4(ATM):c.4444T>C (p.Cys1482Arg)

SNV
Germline

Chr11:108292626

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_752559455

4 SubmittersRCV000691288 RCV001022491 RCV001193601

NM_000051.4(ATM):c.4889A>G (p.Asp1630Gly)

SNV
Germline

Chr11:108295039

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1565466579

2 SubmittersRCV000696175 RCV003362905

NM_000051.4(ATM):c.6222C>A (p.Cys2074Ter)

SNV
Germline

Chr11:108317396

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1565502708

1 SubmittersRCV000691022

NM_000051.4(ATM):c.6766G>A (p.Val2256Ile)

SNV
Germline

Chr11:108325503

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1565519006

2 SubmittersRCV000703393 RCV002360811

NM_000051.4(ATM):c.7768C>T (p.Gln2590Ter)

SNV
Germline

Chr11:108332017

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_876659561

1 SubmittersRCV000695615

NM_000051.4(ATM):c.9023G>C (p.Arg3008Pro)

SNV
Germline

Chr11:108365360

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_587781894

2 SubmittersRCV000699124 RCV002369909

NM_000051.4(ATM):c.1110C>A (p.Tyr370Ter)

SNV
Germline

Chr11:108248977

Pathogenic/Likely pathogenic

Condition: not provided
Breast carcinoma
Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_376170600

5 SubmittersRCV000708600 RCV001653982 RCV001868317 RCV004026758 RCV004678803

NM_000051.4(ATM):c.1082C>A (p.Thr361Asn)

SNV
Germline

Chr11:108248949

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1565378803

4 SubmittersRCV000709165 RCV000775323 RCV002274094

NM_000051.4(ATM):c.1825G>C (p.Glu609Gln)

SNV
Germline

Chr11:108252839

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Hereditary cancer

Criteria Provided
Conflicting Classifications

rs_779780896

5 SubmittersRCV000709168 RCV002289985 RCV002406652 RCV003492141

NM_000051.4(ATM):c.4775A>G (p.Glu1592Gly)

SNV
Germline

Chr11:108293476

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1565463405

3 SubmittersRCV000709182 RCV004026763

NM_000051.4(ATM):c.4777-6T>C

SNV
Unknown

Chr11:108294921

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1565465980

2 SubmittersRCV000709183 RCV004588156

NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter)

SNV
Germline

Chr11:108345749

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555137973

6 SubmittersRCV000755036 RCV000796609 RCV002467451

NM_000051.4(ATM):c.4040T>A (p.Leu1347Ter)

SNV
Germline

Chr11:108287646

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565452621

3 SubmittersRCV000777360 RCV000760571 RCV000801604

NM_000051.4(ATM):c.496G>C (p.Glu166Gln)

SNV
Unknown

Chr11:108235834

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1565357473

1 SubmittersRCV000852350

NM_000051.4(ATM):c.227G>A (p.Arg76Lys)

SNV
Germline

Chr11:108229219

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1565346853

3 SubmittersRCV000775964 RCV003605688

NM_000051.4(ATM):c.1321C>T (p.Gln441Ter)

SNV
Germline

Chr11:108250786

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565382267

5 SubmittersRCV000771731 RCV001223497 RCV003229860 RCV004027238

NM_000051.4(ATM):c.1976A>G (p.Lys659Arg)

SNV
Germline

Chr11:108253891

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1565390043

3 SubmittersRCV000771346 RCV001855737

NM_000051.4(ATM):c.2158C>A (p.Arg720Ser)

SNV
Germline

Chr11:108256248

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_565622131

4 SubmittersRCV001345041 RCV000773565

NM_000051.4(ATM):c.5113G>A (p.Asp1705Asn)

SNV
Germline

Chr11:108299821

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1565474013

3 SubmittersRCV001850962 RCV000772384

NM_000051.4(ATM):c.5596G>A (p.Val1866Ile)

SNV
Germline

Chr11:108304774

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1468995507

4 SubmittersRCV001067277 RCV000772919 RCV001797140

NM_000051.4(ATM):c.5866C>T (p.Leu1956Phe)

SNV
Germline

Chr11:108310263

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1565489956

6 SubmittersRCV000773557 RCV001262806 RCV003442062 RCV000807520

NM_000051.4(ATM):c.6004C>T (p.Gln2002Ter)

SNV
Germline

Chr11:108312496

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_201136510

4 SubmittersRCV001045862 RCV000771918 RCV004027239

NM_000051.4(ATM):c.6703A>G (p.Met2235Val)

SNV
Germline

Chr11:108325440

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_768791795

5 SubmittersRCV001856005 RCV000771924 RCV001766600

NM_000051.4(ATM):c.6778A>G (p.Ile2260Val)

SNV
Germline

Chr11:108325515

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1365474284

4 SubmittersRCV001239637 RCV000776930 RCV001577680

NM_000051.4(ATM):c.6838C>T (p.Gln2280Ter)

SNV
Germline

Chr11:108326088

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565520246

3 SubmittersRCV000776664 RCV004027298 RCV001202079

NM_000051.4(ATM):c.7219T>C (p.Ser2407Pro)

SNV
Germline

Chr11:108329150

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1565526951

3 SubmittersRCV000773607 RCV001067484

NM_000051.4(ATM):c.8284C>T (p.Gln2762Ter)

SNV
Germline

Chr11:108343237

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_751574257

3 SubmittersRCV000771940 RCV001856006

NM_000051.4(ATM):c.8294G>A (p.Gly2765Asp)

SNV
Germline

Chr11:108343247

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_1565557835

4 SubmittersRCV001850961 RCV000772361 RCV004702404

NM_000051.4(ATM):c.8944C>T (p.Pro2982Ser)

SNV
Germline

Chr11:108365175

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1485620194

5 SubmittersRCV000773183 RCV000822149 RCV001585699

NM_000051.4(ATM):c.2467-12T>C

SNV
Germline

Chr11:108267159

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1469467036

4 SubmittersRCV002464312 RCV002067242 RCV000772192 RCV004588183

NM_000051.4(ATM):c.2922-13T>C

SNV
Germline

Chr11:108271238

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1565424946

3 SubmittersRCV003768327 RCV000772301 RCV004588186

NM_000051.4(ATM):c.3285-7T>C

SNV
Germline

Chr11:108279484

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_913535107

3 SubmittersRCV000773651 RCV001503747 RCV004588210

NM_000051.4(ATM):c.6452+6A>T

SNV
Germline

Chr11:108320064

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_878853531

3 SubmittersRCV000772867 RCV001321029 RCV004588196

NM_000051.4(ATM):c.7308-11T>C

SNV
Germline

Chr11:108330203

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1565529149

3 SubmittersRCV000777382 RCV004588230 RCV003605689

NM_000051.4(ATM):c.8269-1G>C

SNV
Germline

Chr11:108343221

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565557607

2 SubmittersRCV000773540 RCV001869098

NM_000051.4(ATM):c.8851-16T>C

SNV
Germline

Chr11:108365066

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1565607217

4 SubmittersRCV002067224 RCV000771493 RCV004588171

NM_000051.4(ATM):c.8787-12G>C

SNV
Germline

Chr11:108354799

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1565582204

3 SubmittersRCV003605693 RCV000777639 RCV004588234

NM_000051.4(ATM):c.2839-6T>C

SNV
Germline

Chr11:108271058

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1338486619

3 SubmittersRCV001445494 RCV000772803 RCV004588194

NM_000051.4(ATM):c.4777-7C>G

SNV
Germline

Chr11:108294920

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1565465976

2 SubmittersRCV000771421 RCV002536617

NM_000051.4(ATM):c.5674+1G>T

SNV
Germline

Chr11:108304853

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565482453

6 SubmittersRCV000774309 RCV001171405 RCV002259369 RCV002534132

NM_000051.4(ATM):c.6453-14T>A

SNV
Germline

Chr11:108321287

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1380071831

2 SubmittersRCV000771281 RCV001855736

NM_000051.4(ATM):c.1354A>G (p.Thr452Ala)

SNV
Germline

Chr11:108250819

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1324524747

6 SubmittersRCV001011140 RCV001054810 RCV000779802 RCV001798977 RCV003472312

NM_000051.4(ATM):c.4544A>C (p.Asn1515Thr)

SNV
Germline

Chr11:108292726

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1565461414

3 SubmittersRCV001856179 RCV000779791 RCV004949894

NM_000051.4(ATM):c.6280G>T (p.Glu2094Ter)

SNV
Germline

Chr11:108317454

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565503182

3 SubmittersRCV000779786 RCV003472311

NM_000051.4(ATM):c.4109+10T>C

SNV
Germline

Chr11:108287725

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1236628481

3 SubmittersRCV000780882 RCV000975834 RCV004588243

NM_000051.4(ATM):c.7927+5G>A

SNV
Germline

Chr11:108332905

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1299306446

4 SubmittersRCV000797163 RCV002422670 RCV000780897 RCV004027319

NM_000051.4(ATM):c.467G>A (p.Trp156Ter)

SNV
Germline

Chr11:108235805

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_876658159

5 SubmittersRCV000784892 RCV001805849 RCV004027332

NM_000051.4(ATM):c.6108T>A (p.Tyr2036Ter)

SNV
Germline

Chr11:108316023

Pathogenic

Ataxia-telangiectasia syndrome
Ataxia telangiectasi

Criteria Provided
Multiple Submitters
No Conflicts

rs_3092826

2 SubmittersRCV002536882 RCV000790417

NM_000051.4(ATM):c.6348-9A>T

SNV
Germline

Chr11:108319945

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1591099349

2 SubmittersRCV000988705 RCV000788322

NM_000051.4(ATM):c.191T>G (p.Leu64Ter)

SNV
Germline

Chr11:108229183

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1591451354

1 SubmittersRCV000812048

NM_000051.4(ATM):c.497A>G (p.Glu166Gly)

SNV
Germline

Chr11:108243953

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_863224573

2 SubmittersRCV000797399 RCV001023355

NM_000051.4(ATM):c.1304T>G (p.Leu435Ter)

SNV
Germline

Chr11:108250769

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1565382166

1 SubmittersRCV000820757

NM_000051.4(ATM):c.1398A>G (p.Gln466=)

SNV
Germline

Chr11:108250863

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1591523834

2 SubmittersRCV000791982 RCV004588248

NM_000051.4(ATM):c.1733A>G (p.Lys578Arg)

SNV
Germline

Chr11:108251962

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1266358260

2 SubmittersRCV000799852 RCV002397605

NM_000051.4(ATM):c.1931C>G (p.Ser644Ter)

SNV
Germline

Chr11:108253846

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

rs_768362387

5 SubmittersRCV000797611 RCV001805865 RCV003166158

NM_000051.4(ATM):c.2194A>G (p.Met732Val)

SNV
Germline

Chr11:108256284

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1415360560

7 SubmittersRCV000799669 RCV001189760 RCV001662827 RCV003230594

NM_000051.4(ATM):c.2516A>C (p.Glu839Ala)

SNV
Germline

Chr11:108267220

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1591587459

2 SubmittersRCV000807355 RCV004949950

NM_000051.4(ATM):c.2877C>A (p.Tyr959Ter)

SNV
Germline

Chr11:108271102

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1057517253

2 SubmittersRCV000793034 RCV004569512

NM_000051.4(ATM):c.3064A>T (p.Ile1022Phe)

SNV
Germline

Chr11:108271393

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_786202470

4 SubmittersRCV000796057 RCV001188744

NM_000051.4(ATM):c.3250C>T (p.Gln1084Ter)

SNV
Germline

Chr11:108272818

Pathogenic

Ataxia-telangiectasia syndrome
Endometrial carcinoma
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1386063673

3 SubmittersRCV000823859 RCV003128162 RCV004029164

NM_000051.4(ATM):c.3275C>A (p.Ser1092Ter)

SNV
Germline

Chr11:108272843

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_774197372

4 SubmittersRCV000793285 RCV001190560 RCV004027440

NM_000051.4(ATM):c.3400A>G (p.Met1134Val)

SNV
Germline

Chr11:108279606

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1591632583

3 SubmittersRCV000818877 RCV001192169

NM_000051.4(ATM):c.4072A>G (p.Ser1358Gly)

SNV
Germline

Chr11:108287678

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1176020475

2 SubmittersRCV000804344 RCV002325558

NM_000051.4(ATM):c.4383G>A (p.Trp1461Ter)

SNV
Germline

Chr11:108289748

Pathogenic

Ataxia-telangiectasia syndrome
Breast carcinoma

Criteria Provided
Single Submitter

rs_1294578913

2 SubmittersRCV000801545 RCV001580154

NM_000051.4(ATM):c.6108T>G (p.Tyr2036Ter)

SNV
Germline

Chr11:108316023

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_3092826

2 SubmittersRCV000822334 RCV004029098

NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter)

SNV
Germline

Chr11:108320021

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Colonic neoplasm
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1339238483

7 SubmittersRCV000806638 RCV001189507 RCV001644830 RCV003155959

NM_000051.4(ATM):c.6697A>C (p.Ile2233Leu)

SNV
Germline

Chr11:108325434

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1385625521

3 SubmittersRCV000813121 RCV002363110 RCV003467466

NM_000051.4(ATM):c.6797A>G (p.Lys2266Arg)

SNV
Germline

Chr11:108325534

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1591130168

2 SubmittersRCV000813801 RCV002363113

NM_000051.4(ATM):c.7194C>A (p.Tyr2398Ter)

SNV
Germline

Chr11:108329125

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1591151199

1 SubmittersRCV000797157

NM_000051.4(ATM):c.7889T>A (p.Leu2630Ter)

SNV
Germline

Chr11:108332862

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591178998

2 SubmittersRCV000823141 RCV004029130

NM_000051.4(ATM):c.8045C>G (p.Thr2682Ser)

SNV
Germline

Chr11:108335003

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1175177178

3 SubmittersRCV000797998 RCV002406758

NM_000051.4(ATM):c.8073C>G (p.Arg2691=)

SNV
Germline

Chr11:108335031

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1215882325

2 SubmittersRCV000809026 RCV004588274

NM_000051.4(ATM):c.8189A>C (p.Gln2730Pro)

SNV
Germline

Chr11:108335882

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_762154857

1 SubmittersRCV000800526

NM_000051.4(ATM):c.8373C>G (p.Tyr2791Ter)

SNV
Germline

Chr11:108343326

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1060504292

3 SubmittersRCV000806145 RCV003353038 RCV004028236

NM_000051.4(ATM):c.8659C>G (p.His2887Asp)

SNV
Germline

Chr11:108347353

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1591274530

5 SubmittersRCV000795716 RCV001729706 RCV004686614

NM_000051.4(ATM):c.8824C>T (p.Gln2942Ter)

SNV
Germline

Chr11:108354848

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591314316

3 SubmittersRCV000812165 RCV001018378 RCV004569679

NM_000051.4(ATM):c.72+2T>C

SNV
Germline

Chr11:108227698

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591446206

5 SubmittersRCV000811409 RCV001182079 RCV004028724

NM_000051.4(ATM):c.4777-1G>A

SNV
Germline

Chr11:108294926

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1591684268

1 SubmittersRCV000800294

NM_000051.4(ATM):c.6976-1G>T

SNV
Germline

Chr11:108327644

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591141963

3 SubmittersRCV000805322 RCV001025869 RCV004028215

NM_000051.4(ATM):c.8010+2T>C

SNV
Germline

Chr11:108333970

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591184927

2 SubmittersRCV000807935 RCV003316812

NM_000051.4(ATM):c.3285-2A>G

SNV
Germline

Chr11:108279489

Pathogenic

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591631876

2 SubmittersRCV001310100 RCV000791610

NM_000051.4(ATM):c.4237-2A>G

SNV
Germline

Chr11:108289600

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1591662492

4 SubmittersRCV000815087 RCV003362973 RCV004569708

NM_000051.4(ATM):c.5006-4G>A

SNV
Germline

Chr11:108299710

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1591701752

3 SubmittersRCV000799869 RCV003166185 RCV004588262

NM_000051.4(ATM):c.5496+2T>G

SNV
Germline

Chr11:108303031

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591713093

4 SubmittersRCV000799380 RCV002345779 RCV004027994

NM_000051.4(ATM):c.6453-1G>A

SNV
Germline

Chr11:108321300

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1555117071

1 SubmittersRCV000823376

NM_000051.4(ATM):c.6976-1G>A

SNV
Germline

Chr11:108327644

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1591141963

1 SubmittersRCV000793262

NM_000051.4(ATM):c.497-5T>C

SNV
Germline

Chr11:108243948

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1591499452

2 SubmittersRCV000800710 RCV004949927

NM_000051.4(ATM):c.1899-1G>T

SNV
Germline

Chr11:108253813

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555073065

2 SubmittersRCV000811700 RCV001013549

NM_000051.4(ATM):c.4910-2A>G

SNV
Germline

Chr11:108297285

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555103156

2 SubmittersRCV000818652 RCV004028965

NM_000051.4(ATM):c.5006-1G>A

SNV
Germline

Chr11:108299713

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1591701799

1 SubmittersRCV000799506

NM_000051.4(ATM):c.5918+1G>A

SNV
Germline

Chr11:108310316

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591746871

4 SubmittersRCV000818081 RCV002352441 RCV004028941 RCV004720008

NM_000051.4(ATM):c.6096-1G>C

SNV
Germline

Chr11:108316010

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591778339

2 SubmittersRCV000809758 RCV002352397

NM_000051.4(ATM):c.8988-1G>T

SNV
Germline

Chr11:108365324

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_730881386

1 SubmittersRCV000809686

NM_000051.4(ATM):c.72+4G>A

SNV
Germline

Chr11:108227700

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1458884973

2 SubmittersRCV000793787 RCV004588253

NM_000051.4(ATM):c.2376+6A>C

SNV
Germline

Chr11:108257612

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1409294054

2 SubmittersRCV000820540 RCV001180121

NM_000051.4(ATM):c.6199-1G>T

SNV
Germline

Chr11:108317372

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591788932

2 SubmittersRCV000821811 RCV003467509

NM_000051.4(ATM):c.6573-9G>A

SNV
Germline

Chr11:108325301

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591128179

3 SubmittersRCV000795488 RCV003307434 RCV004027523

NM_000051.4(ATM):c.6975+4T>G

SNV
Germline

Chr11:108326229

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_876660240

4 SubmittersRCV000808404 RCV001025867 RCV003155317 RCV003482315

NM_000051.4(ATM):c.8011-2A>C

SNV
Germline

Chr11:108334967

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1591190908

1 SubmittersRCV000800255

NM_000051.4(ATM):c.3746+4A>G

SNV
Germline

Chr11:108282883

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1555092593

4 SubmittersRCV000842482 RCV001021027 RCV001247588

NM_000051.4(ATM):c.8787-6C>T

SNV
Germline

Chr11:108354805

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1591313765

5 SubmittersRCV000897587 RCV002225765 RCV002255572 RCV004588321

NM_000051.4(ATM):c.8672-5T>C

SNV
Germline

Chr11:108353761

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1591306315

2 SubmittersRCV001480501 RCV002372553

NM_000051.4(ATM):c.4767A>G (p.Ser1589=)

SNV
Germline

Chr11:108293468

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1591677805

2 SubmittersRCV001396270 RCV003584782

NM_000051.4(ATM):c.4890C>T (p.Asp1630=)

SNV
Germline

Chr11:108295040

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1591685165

4 SubmittersRCV000934122 RCV001189849 RCV004588353

NM_000051.4(ATM):c.332-7G>A

SNV
Germline

Chr11:108235663

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1591474291

3 SubmittersRCV001179745 RCV001481944 RCV004588339

NM_000051.4(ATM):c.4236+9A>G

SNV
Germline

Chr11:108289112

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_1591661022

2 SubmittersRCV000944656 RCV001260311

NM_000051.4(ATM):c.5005+7T>C

SNV
Germline

Chr11:108297389

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_527286038

6 SubmittersRCV000933594 RCV001179337 RCV003330999 RCV004588350 RCV004997509

NM_000051.4(ATM):c.3691T>C (p.Leu1231=)

SNV
Germline

Chr11:108282824

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1210990672

4 SubmittersRCV000983749 RCV002256639 RCV004588443

NM_000051.4(ATM):c.5188C>A (p.Arg1730=)

SNV
Germline

Chr11:108301658

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_764389018

2 SubmittersRCV002337037 RCV000983786

NM_000051.4(ATM):c.7365G>A (p.Leu2455=)

SNV
Germline

Chr11:108330271

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_756506590

4 SubmittersRCV000978983 RCV001026325 RCV004588416 RCV004997543

NM_000051.4(ATM):c.75A>G (p.Lys25=)

SNV
Germline

Chr11:108227778

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1591446716

4 SubmittersRCV000988636 RCV002473160 RCV004588447

NM_000051.4(ATM):c.497-1G>T

SNV
Germline

Chr11:108243952

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_778624615

6 SubmittersRCV000988640 RCV003467549 RCV001805955

NM_000051.4(ATM):c.513C>T (p.Tyr171=)

SNV
Germline

Chr11:108243969

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
ATM-related disorder

Criteria Provided
Conflicting Classifications

rs_786201693

4 SubmittersRCV000988645 RCV004726758

NM_000051.4(ATM):c.1236-1G>T

SNV
Unknown

Chr11:108250700

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1408719214

1 SubmittersRCV000988655

NM_000051.4(ATM):c.1237C>T (p.Leu413=)

SNV
Germline

Chr11:108250702

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1565381686

4 SubmittersRCV000988660 RCV002363514 RCV004588448

NM_000051.4(ATM):c.1243A>T (p.Ile415Phe)

SNV
Germline

Chr11:108250708

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1591522756

2 SubmittersRCV000988663

NM_000051.4(ATM):c.3485T>G (p.Leu1162Ter)

SNV
Germline

Chr11:108281077

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591636613

5 SubmittersRCV001020416 RCV000988678 RCV003467550

NM_000051.4(ATM):c.4910-1G>C

SNV
Unknown

Chr11:108297286

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1060501706

1 SubmittersRCV000988690

NM_000051.4(ATM):c.6987C>G (p.Ser2329Arg)

SNV
Germline

Chr11:108327656

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1591142078

3 SubmittersRCV000988721 RCV001189538

NM_000051.4(ATM):c.7875T>G (p.Asp2625Glu)

SNV
Unknown

Chr11:108332848

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1196903858

1 SubmittersRCV000988728

NM_000051.4(ATM):c.7876G>C (p.Ala2626Pro)

SNV
Unknown

Chr11:108332849

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_267606669

1 SubmittersRCV000988729

NM_000051.4(ATM):c.9023G>T (p.Arg3008Leu)

SNV
Germline

Chr11:108365360

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_587781894

4 SubmittersRCV000994722 RCV001858796 RCV002372715

NM_000051.4(ATM):c.2838+6T>C

SNV
Germline

Chr11:108268615

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_781730571

2 SubmittersRCV000995704

NM_000051.4(ATM):c.6205C>T (p.Gln2069Ter)

SNV
Germline

Chr11:108317379

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555114563

2 SubmittersRCV000995496

NM_000051.4(ATM):c.250G>T (p.Ala84Ser)

SNV
Germline

Chr11:108229242

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1382256509

5 SubmittersRCV001015772 RCV003467626 RCV001832338

NM_000051.4(ATM):c.395C>G (p.Ser132Cys)

SNV
Germline

Chr11:108235733

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_750969764

4 SubmittersRCV001021523 RCV003467662 RCV001207758

NM_000051.4(ATM):c.411C>A (p.Tyr137Ter)

SNV
Germline

Chr11:108235749

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Carcinoma of colon
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_756160533

4 SubmittersRCV001021902 RCV004030813 RCV001356735 RCV001390152

NM_000051.4(ATM):c.468G>A (p.Trp156Ter)

SNV
Germline

Chr11:108235806

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591475457

5 SubmittersRCV001022900 RCV001862238 RCV001543537 RCV004030830

NM_000051.4(ATM):c.487C>T (p.Gln163Ter)

SNV
Germline

Chr11:108235825

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591475608

4 SubmittersRCV001042999 RCV001023192 RCV003467674

NM_000051.4(ATM):c.577G>A (p.Ala193Thr)

SNV
Germline

Chr11:108244033

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_876659832

3 SubmittersRCV001024522 RCV001766855 RCV002551896

NM_000051.4(ATM):c.1168G>T (p.Glu390Ter)

SNV
Germline

Chr11:108249035

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_876660106

3 SubmittersRCV001010091 RCV003141930 RCV001860625

NM_000051.4(ATM):c.1336C>T (p.Gln446Ter)

SNV
Germline

Chr11:108250801

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_587782121

4 SubmittersRCV001010831 RCV004030304 RCV003605700

NM_000051.4(ATM):c.1464G>A (p.Trp488Ter)

SNV
Germline

Chr11:108250929

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome
Breast cancer, susceptibility to
Abnormal central motor function

Criteria Provided
Multiple Submitters
No Conflicts

rs_377597949

7 SubmittersRCV001011523 RCV004702577 RCV004030322 RCV001059130 RCV001258178 RCV001814257

NM_000051.4(ATM):c.1514T>C (p.Phe505Ser)

SNV
Germline

Chr11:108250979

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1555071109

2 SubmittersRCV001011875 RCV002550771

NM_000051.4(ATM):c.1665A>G (p.Val555=)

SNV
Germline

Chr11:108251894

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_754367168

3 SubmittersRCV001012619 RCV003769452 RCV004588462

NM_000051.4(ATM):c.1993A>C (p.Ile665Leu)

SNV
Germline

Chr11:108253908

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_1060501645

3 SubmittersRCV001013955 RCV001223780 RCV004587014

NM_000051.4(ATM):c.2090T>G (p.Leu697Ter)

SNV
Germline

Chr11:108254005

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591534936

3 SubmittersRCV001014401 RCV001381934 RCV004030365

NM_000051.4(ATM):c.2149C>A (p.Arg717=)

SNV
Germline

Chr11:108256239

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_147515380

2 SubmittersRCV001014579 RCV001044581

NM_000051.4(ATM):c.2376G>A (p.Lys792=)

SNV
Germline

Chr11:108257606

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_754267376

2 SubmittersRCV001015345 RCV001873262

NM_000051.4(ATM):c.2465T>G (p.Leu822Ter)

SNV
Germline

Chr11:108259074

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1442299125

3 SubmittersRCV001015624 RCV003500625 RCV004569944

NM_000051.4(ATM):c.2520T>G (p.Asp840Glu)

SNV
Germline

Chr11:108267224

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1591587498

2 SubmittersRCV001015808 RCV002550809

NM_000051.4(ATM):c.2697C>G (p.Asp899Glu)

SNV
Germline

Chr11:108268468

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_786202978

3 SubmittersRCV001016337 RCV001271169

NM_000051.4(ATM):c.2968A>G (p.Ile990Val)

SNV
Germline

Chr11:108271297

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_899241025

2 SubmittersRCV001017698 RCV001301989

NM_000051.4(ATM):c.3060A>G (p.Thr1020=)

SNV
Germline

Chr11:108271389

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1591604737

3 SubmittersRCV001018393 RCV001860907 RCV004588487

NM_000051.4(ATM):c.3063A>G (p.Val1021=)

SNV
Germline

Chr11:108271392

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1591604752

4 SubmittersRCV001018400 RCV002068963 RCV004588488 RCV001288008

NM_000051.4(ATM):c.4343T>G (p.Leu1448Ter)

SNV
Germline

Chr11:108289708

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591663285

3 SubmittersRCV001022328 RCV002551851 RCV002272388

NM_000051.4(ATM):c.4524C>A (p.Tyr1508Ter)

SNV
Germline

Chr11:108292706

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555099892

3 SubmittersRCV001022637 RCV001862224 RCV004030825

NM_000051.4(ATM):c.4990G>T (p.Glu1664Ter)

SNV
Germline

Chr11:108297367

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial prostate cancer

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555103301

4 SubmittersRCV001208228 RCV002269328 RCV001023376 RCV002265926

NM_000051.4(ATM):c.5496A>G (p.Glu1832=)

SNV
Germline

Chr11:108303029

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1591713080

2 SubmittersRCV001024173 RCV001366351

NM_000051.4(ATM):c.6006G>A (p.Gln2002=)

SNV
Germline

Chr11:108312498

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1591759073

2 SubmittersRCV001024798 RCV001066030

NM_000051.4(ATM):c.6139G>A (p.Val2047Ile)

SNV
Germline

Chr11:108316054

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
ATM-related disorder

Criteria Provided
Conflicting Classifications

rs_1591778897

3 SubmittersRCV001062475 RCV001024928 RCV004740542

NM_000051.4(ATM):c.6300C>G (p.Tyr2100Ter)

SNV
Germline

Chr11:108317474

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591789955

5 SubmittersRCV001025108 RCV004796351 RCV001234892

NM_000051.4(ATM):c.7060G>A (p.Ala2354Thr)

SNV
Germline

Chr11:108327729

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1591142727

2 SubmittersRCV001025984 RCV001205322

NM_000051.4(ATM):c.7092A>G (p.Ala2364=)

SNV
Germline

Chr11:108329023

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1591150359

4 SubmittersRCV001026027 RCV001449380 RCV004590018

NM_000051.4(ATM):c.8010G>A (p.Lys2670=)

SNV
Germline

Chr11:108333968

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1013244700

4 SubmittersRCV001027065 RCV001068502 RCV003467696 RCV001564202

NM_000051.4(ATM):c.8151G>A (p.Lys2717=)

SNV
Germline

Chr11:108335109

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1591192550

3 SubmittersRCV001027230 RCV001207545

NM_000051.4(ATM):c.8294G>T (p.Gly2765Val)

SNV
Germline

Chr11:108343247

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565557835

2 SubmittersRCV001862405 RCV001027369

NM_000051.4(ATM):c.9022C>A (p.Arg3008Ser)

SNV
Germline

Chr11:108365359

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_587782292

2 SubmittersRCV001018666 RCV001065223

NM_000051.4(ATM):c.9168G>A (p.Val3056=)

SNV
Germline

Chr11:108365505

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1591388522

7 SubmittersRCV001018938 RCV004998556 RCV002068967 RCV002298834 RCV004588493

NM_000051.4(ATM):c.663-5C>A

SNV
Germline

Chr11:108244783

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1591503207

2 SubmittersRCV001025480 RCV001401699

NM_000051.4(ATM):c.663-5C>T

SNV
Germline

Chr11:108244783

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1591503207

3 SubmittersRCV001025481 RCV001827207 RCV004590013

NM_000051.4(ATM):c.902-1G>A

SNV
Germline

Chr11:108246963

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1064793518

3 SubmittersRCV001018665 RCV002549482 RCV004030416

NM_000051.4(ATM):c.1065+4C>T

SNV
Germline

Chr11:108247131

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1591511595

4 SubmittersRCV001035746 RCV002505540 RCV001009804 RCV004997572

NM_000051.4(ATM):c.2466+1552G>C

SNV
Germline

Chr11:108260627

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_963653732

2 SubmittersRCV001015625 RCV002549424

NM_000051.4(ATM):c.3402+3A>C

SNV
Germline

Chr11:108279611

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_786203688

3 SubmittersRCV001020212 RCV001070106 RCV003229007

NM_000051.4(ATM):c.3577-2A>G

SNV
Germline

Chr11:108282708

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Malignant tumor of breast
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_887358871

5 SubmittersRCV001020646 RCV001232578 RCV002469325 RCV002466603 RCV004030798

NM_000051.4(ATM):c.3993+5G>A

SNV
Germline

Chr11:108284478

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_3092842

2 SubmittersRCV001021600 RCV003500633

NM_000051.4(ATM):c.5319+4T>A

SNV
Germline

Chr11:108301793

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1170957197

2 SubmittersRCV001023912 RCV001038793

NM_000051.4(ATM):c.5918+1G>T

SNV
Germline

Chr11:108310316

Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591746871

4 SubmittersRCV001024681 RCV004030855 RCV001377099

NM_000051.4(ATM):c.6348-4A>G

SNV
Germline

Chr11:108319950

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1591099510

2 SubmittersRCV001025162 RCV003500638

NM_000051.4(ATM):c.6348-1G>C

SNV
Germline

Chr11:108319953

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1057517302

3 SubmittersRCV001025161 RCV001873390 RCV004030866

NM_000051.4(ATM):c.6573-1G>C

SNV
Germline

Chr11:108325309

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591128291

4 SubmittersRCV001025422 RCV001066862 RCV004030871

NM_000051.4(ATM):c.7515+1G>A

SNV
Germline

Chr11:108330422

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591161831

3 SubmittersRCV001026519 RCV001862370 RCV004030884

NM_000051.4(ATM):c.7928-5T>C

SNV
Germline

Chr11:108333881

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1591183992

2 SubmittersRCV001026960 RCV002551987

NM_000051.4(ATM):c.8152-18T>G

SNV
Germline

Chr11:108335827

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1591197705

2 SubmittersRCV001027232 RCV003500640

NM_000051.4(ATM):c.59C>G (p.Ala20Gly)

SNV
Germline

Chr11:108227683

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2078809726

2 SubmittersRCV001071690 RCV002355103

NM_000051.4(ATM):c.841G>T (p.Glu281Ter)

SNV
Germline

Chr11:108244966

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1591504491

1 SubmittersRCV001057969

NM_000051.4(ATM):c.1411A>C (p.Asn471His)

SNV
Germline

Chr11:108250876

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2080104786

3 SubmittersRCV001053502 RCV001180117

NM_000051.4(ATM):c.1571G>A (p.Trp524Ter)

SNV
Germline

Chr11:108251036

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2080119161

1 SubmittersRCV001047863

NM_000051.4(ATM):c.1689G>T (p.Met563Ile)

SNV
Germline

Chr11:108251918

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_786202469

3 SubmittersRCV001071406 RCV002402486 RCV004526079

NM_000051.4(ATM):c.1780G>T (p.Glu594Ter)

SNV
Germline

Chr11:108252009

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2080178937

1 SubmittersRCV001058032

NM_000051.4(ATM):c.2239C>T (p.Gln747Ter)

SNV
Germline

Chr11:108256329

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2080483369

2 SubmittersRCV001060448 RCV002256672

NM_000051.4(ATM):c.2563A>G (p.Met855Val)

SNV
Germline

Chr11:108267267

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_749844591

2 SubmittersRCV001051966 RCV004031622

NM_000051.4(ATM):c.2667T>A (p.Tyr889Ter)

SNV
Germline

Chr11:108268438

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2081381578

2 SubmittersRCV001054612 RCV003462563

NM_000051.4(ATM):c.2813C>T (p.Pro938Leu)

SNV
Germline

Chr11:108268584

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1183804155

3 SubmittersRCV001070304 RCV002225793 RCV004671214

NM_000051.4(ATM):c.3764T>A (p.Leu1255Ter)

SNV
Germline

Chr11:108284244

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2082374257

4 SubmittersRCV001066992 RCV002348466 RCV003469256

NM_000051.4(ATM):c.4019T>A (p.Leu1340Ter)

SNV
Germline

Chr11:108287625

Pathogenic

Breast carcinoma
Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2082559544

2 SubmittersRCV001580153 RCV001050491

NM_000051.4(ATM):c.4397G>C (p.Arg1466Pro)

SNV
Germline

Chr11:108289762

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_749770110

3 SubmittersRCV001044920 RCV003467736 RCV002327288

NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter)

SNV
Germline

Chr11:108292773

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2082872908

6 SubmittersRCV001040433 RCV001805986 RCV003226422 RCV003461453

NM_000051.4(ATM):c.4668T>G (p.Tyr1556Ter)

SNV
Germline

Chr11:108293369

Pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_766438805

3 SubmittersRCV001050385 RCV004697033 RCV003155965

NM_000051.4(ATM):c.4706T>C (p.Val1569Ala)

SNV
Germline

Chr11:108293407

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1555100549

2 SubmittersRCV001061792 RCV004671203

NM_000051.4(ATM):c.4986T>A (p.Thr1662=)

SNV
Germline

Chr11:108297363

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2083180883

2 SubmittersRCV001054453 RCV002339274

NM_000051.4(ATM):c.5114A>G (p.Asp1705Gly)

SNV
Germline

Chr11:108299822

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_2083331705

3 SubmittersRCV001057705 RCV002339288 RCV004570228

NM_000051.4(ATM):c.5132C>T (p.Thr1711Ile)

SNV
Germline

Chr11:108299840

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1291016764

4 SubmittersRCV001048266 RCV001190880

NM_000051.4(ATM):c.5176T>G (p.Cys1726Gly)

SNV
Germline

Chr11:108299884

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_770882126

4 SubmittersRCV001040691 RCV001180026 RCV002260677

NM_000051.4(ATM):c.6027C>A (p.Tyr2009Ter)

SNV
Germline

Chr11:108315843

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1555113567

1 SubmittersRCV001038141

NM_000051.4(ATM):c.6175A>G (p.Thr2059Ala)

SNV
Germline

Chr11:108316090

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1329479941

4 SubmittersRCV001059185 RCV001525349

NM_000051.4(ATM):c.6387C>G (p.Tyr2129Ter)

SNV
Germline

Chr11:108319993

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2085081161

2 SubmittersRCV001066538 RCV004030617

NM_000051.4(ATM):c.6598G>T (p.Glu2200Ter)

SNV
Germline

Chr11:108325335

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2085552425

1 SubmittersRCV001053254

NM_000051.4(ATM):c.6757A>T (p.Lys2253Ter)

SNV
Germline

Chr11:108325494

Pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_863224578

2 SubmittersRCV001065571 RCV003311937

NM_000051.4(ATM):c.7395A>G (p.Lys2465=)

SNV
Germline

Chr11:108330301

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2086122414

3 SubmittersRCV001043876 RCV004590046 RCV002379517

NM_000051.4(ATM):c.7397C>A (p.Ala2466Glu)

SNV
Germline

Chr11:108330303

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1324075885

6 SubmittersRCV001059517 RCV003160479 RCV003467801

NM_000051.4(ATM):c.8122G>T (p.Asp2708Tyr)

SNV
Germline

Chr11:108335080

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_587782719

3 SubmittersRCV001035949 RCV004782629 RCV002416329

NM_000051.4(ATM):c.8302G>T (p.Glu2768Ter)

SNV
Germline

Chr11:108343255

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1555135513

1 SubmittersRCV001055464

NM_000051.4(ATM):c.8965C>T (p.Gln2989Ter)

SNV
Germline

Chr11:108365196

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_147695170

3 SubmittersRCV001184926 RCV003141977 RCV001049656

NM_000051.4(ATM):c.9112C>T (p.Gln3038Ter)

SNV
Germline/somatic

Chr11:108365449

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Gastric cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591387978

5 SubmittersRCV001050551 RCV003160394 RCV003332289 RCV003160395 RCV004031569

NM_000051.4(ATM):c.9169T>C (p.Ter3057Arg)

SNV
Germline

Chr11:108365506

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_2091262473

2 SubmittersRCV001040394 RCV004031138

NM_000051.4(ATM):c.9169T>G (p.Ter3057Gly)

SNV
Germline

Chr11:108365506

Likely pathogenic

Carcinoma of colon
Familial cancer of breast
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Hereditary cancer

Criteria Provided
Multiple Submitters
No Conflicts

rs_2091262473

6 SubmittersRCV001354458 RCV003467713 RCV001037761 RCV004031040 RCV004698854

NM_000051.4(ATM):c.2466+5G>A

SNV
Germline

Chr11:108259080

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1064795969

2 SubmittersRCV001044300 RCV002451171

NM_000051.4(ATM):c.3078-5T>C

SNV
Germline

Chr11:108272527

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1565427457

3 SubmittersRCV002319651 RCV001043104 RCV004590044

NM_000051.4(ATM):c.3402+1G>A

SNV
Germline

Chr11:108279609

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565439606

2 SubmittersRCV001052757 RCV002451217

NM_000051.4(ATM):c.7789-4A>G

SNV
Germline

Chr11:108332758

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2086401774

2 SubmittersRCV001036713 RCV002409367

NM_000051.4(ATM):c.5005+1G>A

SNV
Germline

Chr11:108297383

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1057517427

3 SubmittersRCV001065044 RCV003467827

NM_000051.4(ATM):c.1899-5T>C

SNV
Germline

Chr11:108253809

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1591533679

2 SubmittersRCV001044996 RCV004590048

NM_000051.4(ATM):c.3285-8G>C

SNV
Germline

Chr11:108279483

Conflicting classifications of pathogenicity

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1469259085

2 SubmittersRCV004590055 RCV001048292

NM_000051.4(ATM):c.3746+1G>T

SNV
Germline

Chr11:108282880

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

rs_2082309297

5 SubmittersRCV003322843 RCV003283884 RCV004031272 RCV001042076 RCV003160284

NM_000051.4(ATM):c.4110-1G>C

SNV
Germline

Chr11:108288976

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1060501692

5 SubmittersRCV002320228 RCV001035121 RCV003467700 RCV004698853

NM_000051.4(ATM):c.4236+2T>A

SNV
Germline

Chr11:108289105

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1229926683

1 SubmittersRCV001053047

NM_000051.4(ATM):c.1607+1G>A

SNV
Germline

Chr11:108251073

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_772926890

5 SubmittersRCV001046283 RCV001539880 RCV003467746 RCV001182864

NM_000051.4(ATM):c.2124+1G>A

SNV
Germline

Chr11:108254040

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555073553

3 SubmittersRCV001042407 RCV002416352 RCV004031286

NM_000051.4(ATM):c.3993+4T>C

SNV
Germline

Chr11:108284477

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2082390512

4 SubmittersRCV001040051 RCV002372767

NM_000051.4(ATM):c.4109+5G>A

SNV
Germline

Chr11:108287720

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2082568277

3 SubmittersRCV003223691 RCV001040379 RCV002320248

NM_000051.4(ATM):c.5177+1G>C

SNV
Germline

Chr11:108299886

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
ATM-related disorder
ATM-related cancer predisposition

Reviewed By Expert Panel

rs_1131691159

4 SubmittersRCV001063621 RCV003584813 RCV004547969 RCV005001148

NM_000051.4(ATM):c.5320-3T>C

SNV
Germline

Chr11:108302850

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1346691984

3 SubmittersRCV001066680 RCV002348464 RCV004590080

NM_000051.4(ATM):c.7307+1G>T

SNV
Germline

Chr11:108329239

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2086003529

1 SubmittersRCV001070580

NM_000051.4(ATM):c.8850+2T>G

SNV
Germline

Chr11:108354876

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1555143623

1 SubmittersRCV001062440

NM_000051.4(ATM):c.7879T>C (p.Tyr2627His)

SNV
Germline

Chr11:108332852

Conflicting classifications of pathogenicity

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_2086422796

2 SubmittersRCV001090200 RCV001862671

NM_000051.4(ATM):c.834C>G (p.Val278=)

SNV
Germline

Chr11:108244959

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_2079769316

3 SubmittersRCV001105467 RCV002436706 RCV004590095

NM_000051.4(ATM):c.3077+4G>T

SNV
Germline

Chr11:108271410

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_201222237

3 SubmittersRCV001108885 RCV002319659

NM_000051.4(ATM):c.352C>T (p.Gln118Ter)

SNV
Germline

Chr11:108235690

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2079235532

3 SubmittersRCV001188236 RCV004033380 RCV001234774

NM_000051.4(ATM):c.645G>A (p.Lys215=)

SNV
Germline

Chr11:108244101

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_2079708544

3 SubmittersRCV001184620 RCV001876146 RCV004590158

NM_000051.4(ATM):c.1677A>G (p.Ile559Met)

SNV
Germline

Chr11:108251906

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1190611996

3 SubmittersRCV001191463 RCV001219750

NM_000051.4(ATM):c.3192G>A (p.Met1064Ile)

SNV
Germline

Chr11:108272760

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Hereditary cancer

Criteria Provided
Conflicting Classifications

rs_1480804197

4 SubmittersRCV001183406 RCV002559836 RCV004702671

NM_000051.4(ATM):c.3197A>G (p.Lys1066Arg)

SNV
Germline

Chr11:108272765

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_926564671

3 SubmittersRCV001176991 RCV001220186

NM_000051.4(ATM):c.3784A>T (p.Arg1262Ter)

SNV
Germline

Chr11:108284264

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591645509

2 SubmittersRCV001386066 RCV001192067

NM_000051.4(ATM):c.5917A>C (p.Arg1973=)

SNV
Germline

Chr11:108310314

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_786202089

3 SubmittersRCV001185816 RCV002559091

NM_000051.4(ATM):c.5926G>A (p.Ala1976Thr)

SNV
Germline

Chr11:108312418

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Hereditary cancer

Criteria Provided
Conflicting Classifications

rs_2084241683

4 SubmittersRCV001187207 RCV001342451 RCV004702675

NM_000051.4(ATM):c.8620C>T (p.Gln2874Ter)

SNV
Germline

Chr11:108347314

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2088551822

4 SubmittersRCV001190881 RCV001389297

NM_000051.4(ATM):c.9032T>C (p.Met3011Thr)

SNV
Germline

Chr11:108365369

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1555151804

3 SubmittersRCV001184152 RCV001876129

NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter)

SNV
Germline

Chr11:108365428

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2091249987

5 SubmittersRCV001179145 RCV001247349 RCV001192363

NM_000051.4(ATM):c.496+1G>C

SNV
Germline

Chr11:108235835

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_876658500

4 SubmittersRCV001191012 RCV001377590

NM_000051.4(ATM):c.6348-7C>G

SNV
Germline

Chr11:108319947

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_2085074288

2 SubmittersRCV001184898 RCV003500662

NM_000051.4(ATM):c.8152-7T>C

SNV
Germline

Chr11:108335838

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_2086778829

3 SubmittersRCV001187960 RCV002560000 RCV004590182

NM_000051.4(ATM):c.8672-11C>G

SNV
Germline

Chr11:108353755

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_2089488144

2 SubmittersRCV001183895 RCV003500657

NM_000051.4(ATM):c.497-9T>G

SNV
Germline

Chr11:108243944

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_2079693632

2 SubmittersRCV001178144 RCV002068215

NM_000051.4(ATM):c.2125-11T>A

SNV
Germline

Chr11:108256204

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1054208254

3 SubmittersRCV001184837 RCV001550641 RCV002068394

NM_000051.4(ATM):c.2251-1G>A

SNV
Germline

Chr11:108257480

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_876659710

4 SubmittersRCV001178059 RCV001806034 RCV004033015

NM_000051.4(ATM):c.2638+5A>G

SNV
Germline

Chr11:108267347

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_2081314537

4 SubmittersRCV001175810 RCV002558792 RCV004590117

NM_000051.4(ATM):c.3285-14T>C

SNV
Germline

Chr11:108279477

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_2082112216

3 SubmittersRCV001176378 RCV002067878 RCV004590122

NM_000051.4(ATM):c.3746+18A>G

SNV
Germline

Chr11:108282897

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

rs_2082310429

3 SubmittersRCV001192127 RCV001863047 RCV002225806

NM_000051.4(ATM):c.3994-14T>G

SNV
Germline

Chr11:108287586

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1255634399

2 SubmittersRCV001182696 RCV003605739

NM_000051.4(ATM):c.5497-10T>C

SNV
Germline

Chr11:108304665

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1457831101

3 SubmittersRCV001190539 RCV001876228 RCV004590198

NM_000051.4(ATM):c.2377-11C>G

SNV
Germline

Chr11:108258975

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_2080691297

2 SubmittersRCV001179099 RCV002068235

NM_000051.4(ATM):c.2377-9T>A

SNV
Germline

Chr11:108258977

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_2080691443

2 SubmittersRCV001184687 RCV002559067

NM_000051.4(ATM):c.7308-5G>A

SNV
Germline

Chr11:108330209

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_2086108867

2 SubmittersRCV001185880 RCV003500665

NM_000051.4(ATM):c.7516-9T>A

SNV
Germline

Chr11:108331435

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_2086219990

2 SubmittersRCV001181003 RCV003500651

NM_000051.4(ATM):c.7788+19C>G

SNV
Germline

Chr11:108332056

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_201990371

2 SubmittersRCV001187005 RCV002559961

NM_000051.4(ATM):c.4777-7C>T

SNV
Germline

Chr11:108294920

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1565465976

2 SubmittersRCV001186782 RCV001489331

NM_000051.4(ATM):c.8671+15C>G

SNV
Germline

Chr11:108347380

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1438943849

2 SubmittersRCV001190688 RCV001859144

NM_000051.4(ATM):c.8988-13T>G

SNV
Germline

Chr11:108365312

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_756571175

2 SubmittersRCV001189479 RCV002069074

NM_000051.4(ATM):c.8988-7T>A

SNV
Germline

Chr11:108365318

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1487809821

2 SubmittersRCV001185601 RCV001207125

NM_000051.4(ATM):c.6808-7A>G

SNV
Germline

Chr11:108326051

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_2085644108

2 SubmittersRCV001189059 RCV001502921

NM_000051.4(ATM):c.8268+2T>C

SNV
Germline

Chr11:108335963

Likely pathogenic

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565544020

2 SubmittersRCV001197869 RCV002561058

NM_000051.4(ATM):c.1564G>T (p.Glu522Ter)

SNV
Germline

Chr11:108251029

Pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2080118610

4 SubmittersRCV001200381 RCV001388321 RCV004033486

NM_000051.4(ATM):c.1333C>T (p.Gln445Ter)

SNV
Germline

Chr11:108250798

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
ATM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_2080097197

3 SubmittersRCV001224898 RCV004032523 RCV004727003

NM_000051.4(ATM):c.1750C>T (p.Gln584Ter)

SNV
Germline

Chr11:108251979

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2080176523

3 SubmittersRCV001222086 RCV004032436 RCV004719106

NM_000051.4(ATM):c.1937C>A (p.Ser646Ter)

SNV
Germline

Chr11:108253852

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1591534005

1 SubmittersRCV001224512

NM_000051.4(ATM):c.3340A>G (p.Lys1114Glu)

SNV
Germline

Chr11:108279546

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1049900772

4 SubmittersRCV001218274 RCV002259093 RCV002504269

NM_000051.4(ATM):c.3733G>T (p.Glu1245Ter)

SNV
Germline

Chr11:108282866

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2082308153

1 SubmittersRCV001223353

NM_000051.4(ATM):c.6196C>T (p.Gln2066Ter)

SNV
Germline

Chr11:108316111

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1361215494

1 SubmittersRCV001216820

NM_000051.4(ATM):c.6247G>T (p.Gly2083Ter)

SNV
Germline

Chr11:108317421

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1060501586

1 SubmittersRCV001214513

NM_000051.4(ATM):c.6657T>G (p.Phe2219Leu)

SNV
Germline

Chr11:108325394

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2085560685

2 SubmittersRCV001218468 RCV003294054

NM_000051.4(ATM):c.6727C>T (p.Gln2243Ter)

SNV
Germline

Chr11:108325464

Pathogenic

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565518711

2 SubmittersRCV004033943 RCV001214786

NM_000051.4(ATM):c.8482C>T (p.Gln2828Ter)

SNV
Germline

Chr11:108345806

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555138125

3 SubmittersRCV001218452 RCV002447098 RCV004034070

NM_000051.4(ATM):c.9061G>T (p.Glu3021Ter)

SNV
Germline

Chr11:108365398

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2091244384

3 SubmittersRCV001221353 RCV003492232 RCV004032417

NM_000051.4(ATM):c.798G>A (p.Trp266Ter)

SNV
Germline

Chr11:108244923

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2079766417

1 SubmittersRCV001210403

NM_000051.4(ATM):c.1189A>T (p.Lys397Ter)

SNV
Germline

Chr11:108249056

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2079999064

1 SubmittersRCV001208030

NM_000051.4(ATM):c.1210C>T (p.Gln404Ter)

SNV
Germline

Chr11:108249077

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_730881340

1 SubmittersRCV001206302

NM_000051.4(ATM):c.2228C>G (p.Ser743Ter)

SNV
Germline

Chr11:108256318

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2080482247

1 SubmittersRCV001203270

NM_000051.4(ATM):c.2940T>A (p.Tyr980Ter)

SNV
Germline

Chr11:108271269

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_748119565

1 SubmittersRCV001204512

NM_000051.4(ATM):c.3292C>T (p.Gln1098Ter)

SNV
Germline

Chr11:108279498

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_773964990

3 SubmittersRCV001207152 RCV004033688 RCV004950333

NM_000051.4(ATM):c.3338T>A (p.Leu1113Ter)

SNV
Germline

Chr11:108279544

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1591632166

1 SubmittersRCV001212049

NM_000051.4(ATM):c.5755C>T (p.Gln1919Ter)

SNV
Germline

Chr11:108307977

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Breast carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

rs_2083823146

3 SubmittersRCV001204871 RCV004570434 RCV001554317

NM_000051.4(ATM):c.8096C>T (p.Pro2699Leu)

SNV
Germline

Chr11:108335054

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_879254209

2 SubmittersRCV001207707 RCV002418698

NM_000051.4(ATM):c.186-2A>G

SNV
Germline

Chr11:108229176

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2078881350

1 SubmittersRCV001211853

NM_000051.4(ATM):c.3077+1G>T

SNV
Germline

Chr11:108271407

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

rs_192810283

4 SubmittersRCV001205809 RCV003469332 RCV002319674 RCV003163562

NM_000051.4(ATM):c.6199-2A>C

SNV
Germline

Chr11:108317371

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1060501570

1 SubmittersRCV001202472

NM_000051.4(ATM):c.6453-2A>G

SNV
Germline

Chr11:108321299

Likely pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_539978799

2 SubmittersRCV001203237 RCV004720086

NM_000051.4(ATM):c.6572+3A>G

SNV
Germline

Chr11:108321423

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_778574672

2 SubmittersRCV001202681 RCV002365910

NM_000051.4(ATM):c.8786+2T>C

SNV
Germline

Chr11:108353882

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1555142918

1 SubmittersRCV001211633

NM_000051.4(ATM):c.8787-2A>G

SNV
Germline

Chr11:108354809

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2089688512

6 SubmittersRCV001213644 RCV002290641 RCV002375176 RCV004778002

NM_000051.4(ATM):c.185+6C>T

SNV
Germline

Chr11:108227894

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1555054299

3 SubmittersRCV001224118 RCV004590244

NM_000051.4(ATM):c.496+2T>G

SNV
Germline

Chr11:108235836

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2079249834

1 SubmittersRCV001223507

NM_000051.4(ATM):c.902-2A>G

SNV
Germline

Chr11:108246962

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2079877131

1 SubmittersRCV001225115

NM_000051.4(ATM):c.7927+1G>A

SNV
Germline

Chr11:108332901

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555125532

2 SubmittersRCV002418766 RCV001222651

NM_000051.4(ATM):c.7927+2T>G

SNV
Germline

Chr11:108332902

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2086432758

1 SubmittersRCV001215787

NM_000051.4(ATM):c.8672-1G>A

SNV
Germline

Chr11:108353765

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_876660088

4 SubmittersRCV001215246 RCV002375184 RCV004033960

NM_000051.4(ATM):c.271C>T (p.Gln91Ter)

SNV
Germline

Chr11:108229263

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2078888769

1 SubmittersRCV001238395

NM_000051.4(ATM):c.692A>T (p.His231Leu)

SNV
Germline

Chr11:108244817

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_587782229

3 SubmittersRCV001526207 RCV001238559

NM_000051.4(ATM):c.1409C>G (p.Ser470Ter)

SNV
Germline

Chr11:108250874

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1591523878

2 SubmittersRCV001236897 RCV003166469

NM_000051.4(ATM):c.1433C>A (p.Ser478Ter)

SNV
Germline

Chr11:108250898

Pathogenic

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2080106350

2 SubmittersRCV004033199 RCV001233259

NM_000051.4(ATM):c.2223T>G (p.Tyr741Ter)

SNV
Germline

Chr11:108256313

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1057524111

3 SubmittersRCV001235366 RCV002430007 RCV004033279

NM_000051.4(ATM):c.2838G>T (p.Met946Ile)

SNV
Germline

Chr11:108268609

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1317505466

2 SubmittersRCV001238542

NM_000051.4(ATM):c.3687C>A (p.Tyr1229Ter)

SNV
Germline

Chr11:108282820

Pathogenic/Likely pathogenic

Familial cancer of breast
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2082303743

3 SubmittersRCV004570593 RCV001234931 RCV003373071

NM_000051.4(ATM):c.3756T>G (p.Tyr1252Ter)

SNV
Germline

Chr11:108284236

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_886039637

1 SubmittersRCV001236091

NM_000051.4(ATM):c.3991C>T (p.Gln1331Ter)

SNV
Germline

Chr11:108284471

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Gastric cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2082389962

4 SubmittersRCV002356979 RCV001228896 RCV003166393 RCV004032652

NM_000051.4(ATM):c.5473C>T (p.Gln1825Ter)

SNV
Germline

Chr11:108303006

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555106553

3 SubmittersRCV001232766 RCV004033180 RCV004671281

NM_000051.4(ATM):c.7204G>T (p.Glu2402Ter)

SNV
Germline

Chr11:108329135

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2085987831

1 SubmittersRCV001227216

NM_000051.4(ATM):c.7670T>A (p.Leu2557Ter)

SNV
Germline

Chr11:108331919

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2086293039

2 SubmittersRCV001232125 RCV004033145

NM_000051.4(ATM):c.8565T>A (p.Ser2855Arg)

SNV
Germline

Chr11:108345889

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_780905851

1 SubmittersRCV001235608

NM_000051.4(ATM):c.494T>G (p.Leu165Ter)

SNV
Germline

Chr11:108235832

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2079249238

1 SubmittersRCV001244288

NM_000051.4(ATM):c.614T>G (p.Leu205Ter)

SNV
Germline

Chr11:108244070

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2079705608

1 SubmittersRCV001240749

NM_000051.4(ATM):c.892C>T (p.Gln298Ter)

SNV
Germline

Chr11:108245017

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2079775247

1 SubmittersRCV001241346

NM_000051.4(ATM):c.3078G>C (p.Trp1026Cys)

SNV
Germline

Chr11:108272532

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_876660869

4 SubmittersRCV002255639 RCV003469477 RCV001247764

NM_000051.4(ATM):c.4004T>A (p.Leu1335Ter)

SNV
Germline

Chr11:108287610

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2082558148

1 SubmittersRCV001240526

NM_000051.4(ATM):c.4667A>C (p.Tyr1556Ser)

SNV
Germline

Chr11:108293368

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_587782037

2 SubmittersRCV001248610 RCV002339693

NM_000051.4(ATM):c.5450G>A (p.Gly1817Glu)

SNV
Germline

Chr11:108302983

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2083506323

2 SubmittersRCV001243102 RCV001760273

NM_000051.4(ATM):c.6196C>A (p.Gln2066Lys)

SNV
Germline

Chr11:108316111

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1361215494

2 SubmittersRCV001243077 RCV004951426

NM_000051.4(ATM):c.6904A>T (p.Lys2302Ter)

SNV
Germline

Chr11:108326154

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2085658893

1 SubmittersRCV001244217

NM_000051.4(ATM):c.8188C>T (p.Gln2730Ter)

SNV
Germline

Chr11:108335881

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_587782317

2 SubmittersRCV001240432 RCV004796386

NM_000051.4(ATM):c.2639-2A>G

SNV
Germline

Chr11:108268408

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591593566

2 SubmittersRCV001236243 RCV004033306

NM_000051.4(ATM):c.3153+1G>T

SNV
Germline

Chr11:108272608

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2081646501

3 SubmittersRCV001225643 RCV003462769

NM_000051.4(ATM):c.3402+1G>T

SNV
Germline

Chr11:108279609

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565439606

2 SubmittersRCV001234522 RCV004033245

NM_000051.4(ATM):c.6572+1G>T

SNV
Germline

Chr11:108321421

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_587779856

5 SubmittersRCV001234037 RCV003584867 RCV003449729

NM_000051.4(ATM):c.7630-1G>A

SNV
Germline

Chr11:108331878

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2086285148

4 SubmittersRCV001245396 RCV002393650 RCV003469471

NM_000051.4(ATM):c.8787-3T>C

SNV
Germline

Chr11:108354808

Conflicting classifications of pathogenicity

Familial cancer of breast
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_2089687765

5 SubmittersRCV004590260 RCV001239227 RCV002375261 RCV003987807

NM_000051.4(ATM):c.2922-1G>A

SNV
Unknown

Chr11:108271250

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555084931

2 SubmittersRCV001255860 RCV004035355

NM_000051.4(ATM):c.354A>G (p.Gln118=)

SNV
Germline

Chr11:108235692

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1188306380

4 SubmittersRCV001288009 RCV001432789 RCV002339712 RCV004590300

NM_000051.4(ATM):c.901G>C (p.Gly301Arg)

SNV
Germline

Chr11:108245026

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1064797160

2 SubmittersRCV001302768 RCV002375368

NM_000051.4(ATM):c.2014G>C (p.Glu672Gln)

SNV
Germline

Chr11:108253929

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2080305905

2 SubmittersRCV001304330 RCV002418921

NM_000051.4(ATM):c.3878A>G (p.Asn1293Ser)

SNV
Germline

Chr11:108284358

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2082382534

2 SubmittersRCV001295304 RCV003294197

NM_000051.4(ATM):c.5442G>A (p.Leu1814=)

SNV
Germline

Chr11:108302975

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2083505400

2 SubmittersRCV001295538 RCV002350514

NM_000051.4(ATM):c.5503A>G (p.Thr1835Ala)

SNV
Germline

Chr11:108304681

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1034908940

4 SubmittersRCV001294863 RCV001773599 RCV002350510

NM_000051.4(ATM):c.5615G>A (p.Ser1872Asn)

SNV
Germline

Chr11:108304793

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_761257154

3 SubmittersRCV001302657 RCV002350548 RCV004596437

NM_000051.4(ATM):c.5779A>G (p.Ile1927Val)

SNV
Germline

Chr11:108310176

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_753218533

3 SubmittersRCV001295172 RCV002357079 RCV004820190

NM_000051.4(ATM):c.6481C>G (p.Arg2161Gly)

SNV
Germline

Chr11:108321329

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1064793958

2 SubmittersRCV001307554 RCV002357117

NM_000051.4(ATM):c.8105T>C (p.Ile2702Thr)

SNV
Germline

Chr11:108335063

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_876659735

2 SubmittersRCV001297873 RCV002418895

NM_000051.4(ATM):c.1100C>T (p.Ser367Phe)

SNV
Germline

Chr11:108248967

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2079990831

2 SubmittersRCV001320772 RCV004035017

NM_000051.4(ATM):c.3248A>G (p.His1083Arg)

SNV
Germline

Chr11:108272816

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2081667850

4 SubmittersRCV001312362 RCV002322218 RCV004034254

NM_000051.4(ATM):c.6608T>C (p.Ile2203Thr)

SNV
Germline

Chr11:108325345

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Malignant tumor of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2085553784

3 SubmittersRCV001325917 RCV001355084 RCV004035182

NM_000051.4(ATM):c.8151+6C>T

SNV
Germline

Chr11:108335115

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_910779363

3 SubmittersRCV001322452 RCV001524376 RCV004590326

NM_000051.4(ATM):c.2929T>C (p.Cys977Arg)

SNV
Germline

Chr11:108271258

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2135551484

2 SubmittersRCV001647165 RCV002438758

NM_000051.4(ATM):c.730G>A (p.Ala244Thr)

SNV
Germline

Chr11:108244855

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2079760518

2 SubmittersRCV001338825 RCV004671348

NM_000051.4(ATM):c.9170G>C (p.Ter3057Ser)

SNV
Germline

Chr11:108365507

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2091262802

3 SubmittersRCV001349275 RCV002447428 RCV004036579

NM_000051.4(ATM):c.8708C>T (p.Pro2903Leu)

SNV
Germline

Chr11:108353802

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2089498194

1 SubmittersRCV001352889

NM_000051.4(ATM):c.406A>G (p.Ile136Val)

SNV
Germline

Chr11:108235744

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_780941782

2 SubmittersRCV001363853 RCV002322336

NM_000051.4(ATM):c.815A>G (p.Asn272Ser)

SNV
Germline

Chr11:108244940

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1555067189

4 SubmittersRCV001372405 RCV002420840 RCV003469615

NM_000051.4(ATM):c.2200G>A (p.Val734Ile)

SNV
Germline

Chr11:108256290

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1390127104

2 SubmittersRCV001373078 RCV004037555

NM_000051.4(ATM):c.2565G>T (p.Met855Ile)

SNV
Germline

Chr11:108267269

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2081308163

2 SubmittersRCV001366005 RCV004681145

NM_000051.4(ATM):c.4067A>C (p.Asn1356Thr)

SNV
Germline

Chr11:108287673

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2135736874

2 SubmittersRCV001368223 RCV002322346

NM_000051.4(ATM):c.8161G>A (p.Asp2721Asn)

SNV
Germline

Chr11:108335854

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_876659066

3 SubmittersRCV001362560 RCV001820061 RCV002420793

NM_000051.4(ATM):c.1802+1G>T

SNV
Germline

Chr11:108252032

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2135344665

1 SubmittersRCV001379361

NM_000051.4(ATM):c.2638+1G>T

SNV
Germline

Chr11:108267343

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Gastric cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2135509713

6 SubmittersRCV001376915 RCV002432057 RCV003169932 RCV004037628

NM_000051.4(ATM):c.3993+2T>C

SNV
Germline

Chr11:108284475

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Gastric cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_2135710273

4 SubmittersRCV001377633 RCV003169934 RCV003169935 RCV004037631

NM_000051.4(ATM):c.4436+1G>A

SNV
Germline

Chr11:108289802

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555097894

2 SubmittersRCV001379458 RCV004037637

NM_000051.4(ATM):c.4910-2A>C

SNV
Germline

Chr11:108297285

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1555103156

1 SubmittersRCV001377035

NM_000051.4(ATM):c.5006-2A>G

SNV
Germline

Chr11:108299712

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2135887733

2 SubmittersRCV001379093 RCV002341821

NM_000051.4(ATM):c.5320-1G>C

SNV
Germline

Chr11:108302852

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2135926774

1 SubmittersRCV001376827

NM_000051.4(ATM):c.5675-1G>C

SNV
Germline

Chr11:108307896

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2135975662

1 SubmittersRCV001379095

NM_000051.4(ATM):c.6807+2T>C

SNV
Germline

Chr11:108325546

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136319469

2 SubmittersRCV001379619 RCV004037638

NM_000051.4(ATM):c.7307+1G>A

SNV
Germline

Chr11:108329239

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2086003529

4 SubmittersRCV001377732 RCV002384543 RCV003469630

NM_000051.4(ATM):c.7515+1G>T

SNV
Germline

Chr11:108330422

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591161831

4 SubmittersRCV001379897 RCV004037639

NM_000051.4(ATM):c.7788+1G>A

SNV
Germline

Chr11:108332038

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1565534524

1 SubmittersRCV001379761

NM_000051.4(ATM):c.7789-1G>A

SNV
Germline

Chr11:108332761

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591177953

2 SubmittersRCV001379476 RCV003355448

NM_000051.4(ATM):c.8151+1G>A

SNV
Germline

Chr11:108335110

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591192583

3 SubmittersRCV001377244 RCV004037629 RCV004951653

NM_000051.4(ATM):c.8419-2A>C

SNV
Germline

Chr11:108345741

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555137917

3 SubmittersRCV001378008 RCV003469632

NM_000051.4(ATM):c.769G>T (p.Glu257Ter)

SNV
Germline

Chr11:108244894

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1565371596

1 SubmittersRCV001384777

NM_000051.4(ATM):c.856C>T (p.Gln286Ter)

SNV
Germline

Chr11:108244981

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2135242925

3 SubmittersRCV001384359 RCV002447511 RCV004037666

NM_000051.4(ATM):c.1179G>A (p.Trp393Ter)

SNV
Germline

Chr11:108249046

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_876658567

3 SubmittersRCV001380969 RCV001524545 RCV004037647

NM_000051.4(ATM):c.1262C>G (p.Ser421Ter)

SNV
Germline

Chr11:108250727

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2135316531

3 SubmittersRCV001381307 RCV003169945 RCV004037650

NM_000051.4(ATM):c.1702A>T (p.Arg568Ter)

SNV
Germline

Chr11:108251931

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_876659425

1 SubmittersRCV001384132

NM_000051.4(ATM):c.2626C>T (p.Gln876Ter)

SNV
Germline

Chr11:108267330

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2135509419

1 SubmittersRCV001381779

NM_000051.4(ATM):c.2962A>T (p.Lys988Ter)

SNV
Germline

Chr11:108271291

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_772327699

1 SubmittersRCV001385058

NM_000051.4(ATM):c.3007C>T (p.Gln1003Ter)

SNV
Germline

Chr11:108271336

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1555085143

1 SubmittersRCV001390351

NM_000051.4(ATM):c.3461T>A (p.Leu1154Ter)

SNV
Germline

Chr11:108281053

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2135666960

1 SubmittersRCV001387685

NM_000051.4(ATM):c.3820C>T (p.Gln1274Ter)

SNV
Germline

Chr11:108284300

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1453429915

2 SubmittersRCV001385735

NM_000051.4(ATM):c.3858C>A (p.Cys1286Ter)

SNV
Germline

Chr11:108284338

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2082381612

1 SubmittersRCV001389206

NM_000051.4(ATM):c.4668T>A (p.Tyr1556Ter)

SNV
Germline

Chr11:108293369

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_766438805

4 SubmittersRCV001381790 RCV002341824 RCV004037652

NM_000051.4(ATM):c.5088T>G (p.Tyr1696Ter)

SNV
Germline

Chr11:108299796

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_786203476

1 SubmittersRCV001389195

NM_000051.4(ATM):c.5293C>T (p.Gln1765Ter)

SNV
Germline

Chr11:108301763

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2083444895

3 SubmittersRCV001386150 RCV001525189 RCV004037679

NM_000051.4(ATM):c.6080T>G (p.Leu2027Ter)

SNV
Germline

Chr11:108315896

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2136121259

1 SubmittersRCV001380467

NM_000051.4(ATM):c.6242T>A (p.Leu2081Ter)

SNV
Germline

Chr11:108317416

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136164699

3 SubmittersRCV001380136 RCV002368220 RCV004037641

NM_000051.4(ATM):c.6547G>T (p.Glu2183Ter)

SNV
Germline

Chr11:108321395

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2085204408

2 SubmittersRCV001389024 RCV002368229

NM_000051.4(ATM):c.6616C>T (p.Gln2206Ter)

SNV
Germline

Chr11:108325353

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2085554912

1 SubmittersRCV001381515

NM_000051.4(ATM):c.6661G>T (p.Glu2221Ter)

SNV
Germline

Chr11:108325398

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1591128898

1 SubmittersRCV001382160

NM_000051.4(ATM):c.6805C>T (p.Gln2269Ter)

SNV
Germline

Chr11:108325542

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2085584895

2 SubmittersRCV001390349 RCV004037707

NM_000051.4(ATM):c.7113T>G (p.Tyr2371Ter)

SNV
Germline

Chr11:108329044

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_760534895

1 SubmittersRCV001381987

NM_000051.4(ATM):c.7267G>T (p.Glu2423Ter)

SNV
Germline

Chr11:108329198

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1555122245

1 SubmittersRCV001384929

NM_000051.4(ATM):c.7753A>T (p.Lys2585Ter)

SNV
Germline

Chr11:108332002

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2086308918

4 SubmittersRCV001382517 RCV003584916 RCV003469678

NM_000051.4(ATM):c.7976T>G (p.Leu2659Ter)

SNV
Germline

Chr11:108333934

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1565538536

1 SubmittersRCV001389523

NM_000051.4(ATM):c.8239A>T (p.Lys2747Ter)

SNV
Germline

Chr11:108335932

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2136698578

1 SubmittersRCV001383338

NM_000051.4(ATM):c.8451T>A (p.Tyr2817Ter)

SNV
Germline

Chr11:108345775

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2137026687

1 SubmittersRCV001389337

NM_000051.4(ATM):c.8556T>G (p.Tyr2852Ter)

SNV
Germline

Chr11:108345880

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_779394254

3 SubmittersRCV001381412 RCV002447508 RCV003469659

NM_000051.4(ATM):c.8785A>T (p.Arg2929Ter)

SNV
Germline

Chr11:108353879

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1013290424

1 SubmittersRCV001380186

NM_000051.4(ATM):c.8797A>T (p.Lys2933Ter)

SNV
Germline

Chr11:108354821

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_587779875

1 SubmittersRCV001383930

NM_000051.4(ATM):c.759A>G (p.Glu253=)

SNV
Germline

Chr11:108244884

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2135239992

2 SubmittersRCV001474025 RCV002396120

NM_000051.4(ATM):c.1803-7T>C

SNV
Germline

Chr11:108252810

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_2135352285

3 SubmittersRCV001450969 RCV002243227 RCV004590468

NM_000051.4(ATM):c.2364C>G (p.Ser788Arg)

SNV
Germline

Chr11:108257594

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

rs_2135408164

4 SubmittersRCV001469056 RCV003584959 RCV004591486 RCV004550218

NM_000051.4(ATM):c.1434A>G (p.Ser478=)

SNV
Germline

Chr11:108250899

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_2135322636

4 SubmittersRCV001484413 RCV002258280 RCV004591508

NM_000051.4(ATM):c.6348-5C>A

SNV
Germline

Chr11:108319949

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1388651064

2 SubmittersRCV001485881 RCV002368493

NM_000051.4(ATM):c.7516-15T>G

SNV
Germline

Chr11:108331429

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Breast and/or ovarian cancer

Criteria Provided
Conflicting Classifications

rs_1400642000

3 SubmittersRCV001525295 RCV002568809 RCV003150440

NM_000051.4(ATM):c.8398C>T (p.Gln2800Ter)

SNV
Germline

Chr11:108343351

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136952289

2 SubmittersRCV001525225 RCV001872074

NM_000051.4(ATM):c.1689G>C (p.Met563Ile)

SNV
Germline

Chr11:108251918

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_786202469

3 SubmittersRCV001526962 RCV002568855 RCV002414249

NM_000051.4(ATM):c.7424T>G (p.Leu2475Ter)

SNV
Germline

Chr11:108330330

Pathogenic

Breast carcinoma
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1224883896

3 SubmittersRCV001554292 RCV003771698 RCV004801035

NM_000051.4(ATM):c.3153+1G>A

SNV
Germline

Chr11:108272608

Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2081646501

3 SubmittersRCV001564543 RCV002570751 RCV003470865

NM_000051.4(ATM):c.3403-9C>A

SNV
Germline

Chr11:108280986

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_375483605

2 SubmittersRCV001658873 RCV002073064

NM_000051.4(ATM):c.5918+14G>T

SNV
Germline

Chr11:108310329

Conflicting classifications of pathogenicity

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_2136020496

2 SubmittersRCV001693493 RCV003605765

NM_000051.4(ATM):c.6529C>T (p.Gln2177Ter)

SNV
Germline

Chr11:108321377

Pathogenic/Likely pathogenic

Condition: not provided
Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_766706861

6 SubmittersRCV001702268 RCV001868392 RCV004039956 RCV003470879

NM_000051.4(ATM):c.8268G>A (p.Lys2756=)

SNV
Germline

Chr11:108335961

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Hereditary breast ovarian cancer syndrome

Criteria Provided
Conflicting Classifications

rs_1555128642

5 SubmittersRCV001733362 RCV001806252 RCV002032729 RCV004762174

NM_000051.4(ATM):c.332-7G>T

SNV
Germline

Chr11:108235663

Conflicting classifications of pathogenicity

Condition: not provided
Ataxia-telangiectasia syndrome
Breast and/or ovarian cancer
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1591474291

4 SubmittersRCV001766044 RCV002074024 RCV003492269 RCV004591562

NM_000051.4(ATM):c.3746+1G>A

SNV
Germline

Chr11:108282880

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2082309297

1 SubmittersRCV001784975

NM_000051.4(ATM):c.2251-2A>G

SNV
Germline

Chr11:108257479

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2135405559

2 SubmittersRCV001785039 RCV004040803

NM_000051.4(ATM):c.6389A>G (p.Asn2130Ser)

SNV
Germline

Chr11:108319995

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_2136220181

3 SubmittersRCV001804264 RCV001869501

NM_000051.4(ATM):c.2125-8A>G

SNV
Germline

Chr11:108256207

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_757565418

3 SubmittersRCV001804357 RCV003605769 RCV004591572

NM_000051.4(ATM):c.3529T>C (p.Cys1177Arg)

SNV
Germline

Chr11:108281121

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_2135669298

3 SubmittersRCV001804385 RCV003500687

NM_000051.4(ATM):c.8592C>G (p.Tyr2864Ter)

SNV
Germline

Chr11:108347286

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_56025670

3 SubmittersRCV001804474 RCV001869512

NM_000051.4(ATM):c.6187G>T (p.Gly2063Ter)

SNV
Germline

Chr11:108316102

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136132184

2 SubmittersRCV001804525 RCV001869514

NM_000051.4(ATM):c.8851-3T>C

SNV
Germline

Chr11:108365079

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_748874219

4 SubmittersRCV001805266 RCV001869532 RCV004591577

NM_000051.4(ATM):c.5873C>T (p.Ala1958Val)

SNV
Germline

Chr11:108310270

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_2136017305

3 SubmittersRCV001805328 RCV001869535

NM_000051.4(ATM):c.9040C>T (p.Gln3014Ter)

SNV
Germline

Chr11:108365377

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2137911487

4 SubmittersRCV001805516 RCV002542405 RCV004040915

NM_000051.4(ATM):c.5178-11G>T

SNV
Germline

Chr11:108301637

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_200876654

3 SubmittersRCV001805561 RCV002074202 RCV004591580

NM_000051.4(ATM):c.242A>G (p.Asn81Ser)

SNV
Germline

Chr11:108229234

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_2135034894

3 SubmittersRCV001820561 RCV002449436 RCV002542633

NM_000051.4(ATM):c.5178-2A>G

SNV
Germline

Chr11:108301646

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2135911500

4 SubmittersRCV001823645 RCV003464154

NM_000051.4(ATM):c.6872G>A (p.Trp2291Ter)

SNV
Germline

Chr11:108326122

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136334561

2 SubmittersRCV001825154 RCV003316851

NM_000051.4(ATM):c.1608-2A>C

SNV
Germline

Chr11:108251835

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2135338498

1 SubmittersRCV002026026

NM_000051.4(ATM):c.7915A>T (p.Lys2639Ter)

SNV
Germline

Chr11:108332888

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136572656

3 SubmittersRCV001917093 RCV004044127 RCV004044128

NM_000051.4(ATM):c.8080G>T (p.Gly2694Ter)

SNV
Germline

Chr11:108335038

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555127157

2 SubmittersRCV001867525 RCV003584997

NM_000051.4(ATM):c.8686C>T (p.Gln2896Ter)

SNV
Germline/somatic

Chr11:108353780

Pathogenic

Ataxia-telangiectasia syndrome
Malignant tumor of urinary bladder
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2137286457

3 SubmittersRCV001866312 RCV003332352 RCV004038992

NM_000051.4(ATM):c.8556T>A (p.Tyr2852Ter)

SNV
Germline

Chr11:108345880

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_779394254

1 SubmittersRCV001887802

NM_000051.4(ATM):c.3153+2T>C

SNV
Germline

Chr11:108272609

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2135566959

1 SubmittersRCV002024142

NM_000051.4(ATM):c.3078-17A>G

SNV
Germline

Chr11:108272515

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2081636353

2 SubmittersRCV001870337 RCV002319731

NM_000051.4(ATM):c.588A>G (p.Lys196=)

SNV
Germline

Chr11:108244044

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_2135224945

2 SubmittersRCV001922950 RCV004591635

NM_000051.4(ATM):c.2377-2A>T

SNV
Germline

Chr11:108258984

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1057516553

1 SubmittersRCV002048890

NM_000051.4(ATM):c.6975+1G>A

SNV
Germline

Chr11:108326226

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565521129

4 SubmittersRCV001959304 RCV002361317 RCV004044563 RCV004697176

NM_000051.4(ATM):c.8914C>T (p.Gln2972Ter)

SNV
Germline

Chr11:108365145

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2137878257

1 SubmittersRCV001948934

NM_000051.4(ATM):c.3448A>T (p.Arg1150Ter)

SNV
Germline

Chr11:108281040

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_786201209

2 SubmittersRCV001905709 RCV004041380

NM_000051.4(ATM):c.72+1G>T

SNV
Germline

Chr11:108227697

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_786204088

1 SubmittersRCV001999908

NM_000051.4(ATM):c.1882C>T (p.Gln628Ter)

SNV
Germline

Chr11:108252896

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2135354813

3 SubmittersRCV001939449 RCV003464298

NM_000051.4(ATM):c.2839-1G>A

SNV
Germline

Chr11:108271063

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_995271490

1 SubmittersRCV001961473

NM_000051.4(ATM):c.8564G>T (p.Ser2855Ile)

SNV
Germline

Chr11:108345888

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2088303841

1 SubmittersRCV001961496

NM_000051.4(ATM):c.7963A>T (p.Lys2655Ter)

SNV
Germline

Chr11:108333921

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1289658632

1 SubmittersRCV001901850

NM_000051.4(ATM):c.6198+2T>G

SNV
Germline

Chr11:108316115

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1555113882

1 SubmittersRCV001890880

NM_000051.4(ATM):c.4603C>T (p.Gln1535Ter)

SNV
Germline

Chr11:108292785

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_771549673

1 SubmittersRCV001932179

NM_000051.4(ATM):c.6976-2A>T

SNV
Germline

Chr11:108327643

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_587782403

1 SubmittersRCV002003199

NM_000051.4(ATM):c.549T>A (p.His183Gln)

SNV
Germline

Chr11:108244005

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1591499967

2 SubmittersRCV001875490 RCV004946828

NM_000051.4(ATM):c.5763-1G>A

SNV
Germline

Chr11:108310159

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2136011029

1 SubmittersRCV001975816

NM_000051.4(ATM):c.7932C>T (p.Gly2644=)

SNV
Germline

Chr11:108333890

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_2136610997

2 SubmittersRCV001958414 RCV004591655

NM_000051.4(ATM):c.5320-2A>C

SNV
Germline

Chr11:108302851

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1400417135

1 SubmittersRCV002042834

NM_000051.4(ATM):c.6573-2A>C

SNV
Germline

Chr11:108325308

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_751168951

1 SubmittersRCV002010775

NM_000051.4(ATM):c.1065+1G>A

SNV
Germline

Chr11:108247128

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_201089102

1 SubmittersRCV002007818

NM_000051.4(ATM):c.8151+2T>C

SNV
Germline

Chr11:108335111

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2136665852

2 SubmittersRCV001975133 RCV004946941

NM_000051.4(ATM):c.8485C>T (p.Pro2829Ser)

SNV
Germline

Chr11:108345809

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2137030040

1 SubmittersRCV002006070

NM_000051.4(ATM):c.365A>G (p.Asn122Ser)

SNV
Germline

Chr11:108235703

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1060501596

3 SubmittersRCV001988658 RCV004045261

NM_000051.4(ATM):c.5716C>T (p.Gln1906Ter)

SNV
Germline/somatic

Chr11:108307938

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2135976898

5 SubmittersRCV002039979 RCV002343891 RCV003332351 RCV003475117

NM_000051.4(ATM):c.6572G>A (p.Arg2191Lys)

SNV
Germline

Chr11:108321420

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1196814221

2 SubmittersRCV001972233 RCV002361266

NM_000051.4(ATM):c.3682G>T (p.Glu1228Ter)

SNV
Germline

Chr11:108282815

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1334793787

1 SubmittersRCV002012236

NM_000051.4(ATM):c.6007-2A>G

SNV
Germline

Chr11:108315821

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2136117225

1 SubmittersRCV001976639

NM_000051.4(ATM):c.2838+1G>A

SNV
Germline

Chr11:108268610

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555083469

3 SubmittersRCV002009248 RCV002441201 RCV004046194

NM_000051.4(ATM):c.8987+1G>A

SNV
Germline

Chr11:108365219

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_786203631

2 SubmittersRCV002000167 RCV004044355

NM_000051.4(ATM):c.196A>T (p.Lys66Ter)

SNV
Germline

Chr11:108229188

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1565346656

1 SubmittersRCV002037922

NM_000051.4(ATM):c.610G>T (p.Gly204Ter)

SNV
Germline

Chr11:108244066

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_147915571

2 SubmittersRCV002000096 RCV002246617

NM_000051.4(ATM):c.4436G>A (p.Arg1479Lys)

SNV
Germline

Chr11:108289801

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2135767002

2 SubmittersRCV001899207 RCV002331379

NM_000051.4(ATM):c.8152-1G>T

SNV
Germline

Chr11:108335844

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1398616877

4 SubmittersRCV002035496 RCV002246616 RCV002423131

NM_000051.4(ATM):c.6126G>A (p.Trp2042Ter)

SNV
Germline

Chr11:108316041

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2084615312

1 SubmittersRCV001929662

NM_000051.4(ATM):c.7195C>T (p.Gln2399Ter)

SNV
Germline/somatic

Chr11:108329126

Pathogenic

Ataxia-telangiectasia syndrome
Malignant tumor of urinary bladder
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2085985186

3 SubmittersRCV001929693 RCV003332363 RCV004044339

NM_000051.4(ATM):c.6380C>G (p.Ser2127Ter)

SNV
Germline

Chr11:108319986

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2136219729

1 SubmittersRCV001941936

NM_000051.4(ATM):c.4343T>A (p.Leu1448Ter)

SNV
Germline

Chr11:108289708

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591663285

3 SubmittersRCV001939572 RCV002331529 RCV004793652

NM_000051.4(ATM):c.8269-2A>T

SNV
Germline

Chr11:108343220

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2136939497

1 SubmittersRCV001942055

NM_000051.4(ATM):c.1235G>C (p.Trp412Ser)

SNV
Germline

Chr11:108249102

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_587779813

1 SubmittersRCV002038296

NM_000051.4(ATM):c.8170C>T (p.Gln2724Ter)

SNV
Germline

Chr11:108335863

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
ATM-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_2086784990

2 SubmittersRCV001915367 RCV004552089

NM_000051.4(ATM):c.8451T>G (p.Tyr2817Ter)

SNV
Germline

Chr11:108345775

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2137026687

3 SubmittersRCV002002539 RCV003471145

NM_000051.4(ATM):c.8418G>T (p.Met2806Ile)

SNV
Germline

Chr11:108343371

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_762744146

4 SubmittersRCV002022214 RCV002442984 RCV003994371 RCV004042438

NM_000051.4(ATM):c.6007-1G>A

SNV
Germline

Chr11:108315822

Likely pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1365726807

3 SubmittersRCV002016474 RCV002251776 RCV004046260

NM_000051.4(ATM):c.3550G>T (p.Gly1184Ter)

SNV
Germline

Chr11:108281142

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1555091402

1 SubmittersRCV001951250

NM_000051.4(ATM):c.1280T>A (p.Leu427Ter)

SNV
Germline

Chr11:108250745

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2135317116

1 SubmittersRCV001953403

NM_000051.4(ATM):c.8011-2A>G

SNV
Germline

Chr11:108334967

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1591190908

1 SubmittersRCV001946978

NM_000051.4(ATM):c.5319+2T>G

SNV
Germline

Chr11:108301791

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1555105842

1 SubmittersRCV002041426

NM_000051.4(ATM):c.2062G>T (p.Glu688Ter)

SNV
Germline

Chr11:108253977

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_769338089

3 SubmittersRCV001936550 RCV003464251

NM_000051.4(ATM):c.4587T>A (p.Tyr1529Ter)

SNV
Germline

Chr11:108292769

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1555100005

1 SubmittersRCV001950995

NM_000051.4(ATM):c.8973C>A (p.Cys2991Ter)

SNV
Germline

Chr11:108365204

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2137886925

1 SubmittersRCV001951011

NM_000051.4(ATM):c.1724C>A (p.Ser575Ter)

SNV
Germline

Chr11:108251953

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2135342200

2 SubmittersRCV001951097 RCV003303500

NM_000051.4(ATM):c.4110-2A>G

SNV
Germline

Chr11:108288975

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2135750262

3 SubmittersRCV001951165 RCV004044382 RCV004044381

NM_000051.4(ATM):c.4109+1G>A

SNV
Germline

Chr11:108287716

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_879254034

2 SubmittersRCV002016734 RCV002324486

NM_000051.4(ATM):c.1510A>G (p.Asn504Asp)

SNV
Germline

Chr11:108250975

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2135325176

2 SubmittersRCV001878517 RCV002388717

NM_000051.4(ATM):c.7122A>T (p.Glu2374Asp)

SNV
Germline

Chr11:108329053

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_376159946

2 SubmittersRCV001905624 RCV004671495

NM_000051.4(ATM):c.8499C>G (p.Tyr2833Ter)

SNV
Germline

Chr11:108345823

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2137031313

1 SubmittersRCV001978884

NM_000051.4(ATM):c.7788+1G>C

SNV
Germline

Chr11:108332038

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565534524

4 SubmittersRCV001970447 RCV002407212 RCV004044625 RCV004999579

NM_000051.4(ATM):c.8268+1G>C

SNV
Germline

Chr11:108335962

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_876658957

1 SubmittersRCV002031852

NM_000051.4(ATM):c.2086G>T (p.Gly696Ter)

SNV
Germline

Chr11:108254001

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_879254178

1 SubmittersRCV001942270

NM_000051.4(ATM):c.8265T>A (p.Tyr2755Ter)

SNV
Germline

Chr11:108335958

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_758654836

4 SubmittersRCV001962985 RCV002425323 RCV004044372

NM_000051.4(ATM):c.3154-2A>T

SNV
Germline

Chr11:108272720

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_730881357

1 SubmittersRCV001950761

NM_000051.4(ATM):c.2510C>G (p.Ser837Ter)

SNV
Germline

Chr11:108267214

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2081303434

4 SubmittersRCV001879521 RCV002425157 RCV003470983

NM_000051.4(ATM):c.6937A>T (p.Lys2313Ter)

SNV
Germline

Chr11:108326187

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136338211

2 SubmittersRCV001885899 RCV002370423

NM_000051.4(ATM):c.6769G>T (p.Glu2257Ter)

SNV
Germline

Chr11:108325506

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2136317336

1 SubmittersRCV001972009

NM_000051.4(ATM):c.2093C>G (p.Ser698Ter)

SNV
Germline

Chr11:108254008

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2135371158

1 SubmittersRCV001949532

NM_000051.4(ATM):c.492G>A (p.Trp164Ter)

SNV
Germline

Chr11:108235830

Pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555059530

4 SubmittersRCV001908978 RCV003395273 RCV004042572 RCV004946852

NM_000051.4(ATM):c.2839-2A>T

SNV
Germline

Chr11:108271062

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1060501703

1 SubmittersRCV001948358

NM_000051.4(ATM):c.8851-1G>C

SNV
Germline

Chr11:108365081

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1057516537

2 SubmittersRCV001899830 RCV004039778

NM_000051.4(ATM):c.2921+2T>G

SNV
Germline

Chr11:108271148

Pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2135549026

2 SubmittersRCV001953540 RCV004596502

NM_000051.4(ATM):c.7495G>T (p.Glu2499Ter)

SNV
Germline

Chr11:108330401

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136463344

2 SubmittersRCV001953689 RCV004044386

NM_000051.4(ATM):c.6575C>G (p.Ser2192Ter)

SNV
Germline

Chr11:108325312

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136306738

4 SubmittersRCV001972612 RCV002246620

NM_000051.4(ATM):c.7089+1G>C

SNV
Germline

Chr11:108327759

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_777741666

1 SubmittersRCV002008263

NM_000051.4(ATM):c.153A>G (p.Gln51=)

SNV
Germline

Chr11:108227856

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_2078823585

4 SubmittersRCV001906656 RCV004042669 RCV004774530 RCV004591627

NM_000051.4(ATM):c.3174G>A (p.Trp1058Ter)

SNV
Germline

Chr11:108272742

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1064796080

1 SubmittersRCV001963092

NM_000051.4(ATM):c.2376+2T>C

SNV
Germline

Chr11:108257608

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2135408476

1 SubmittersRCV002006385

NM_000051.4(ATM):c.5032G>A (p.Val1678Met)

SNV
Germline

Chr11:108299740

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1299754311

2 SubmittersRCV002006511 RCV002344173

NM_000051.4(ATM):c.8599G>C (p.Gly2867Arg)

SNV
Germline

Chr11:108347293

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_2137079086

4 SubmittersRCV001937703 RCV002449567 RCV003232459 RCV003493892

NM_000051.4(ATM):c.706C>T (p.Leu236Phe)

SNV
Germline

Chr11:108244831

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_886042866

2 SubmittersRCV001902104 RCV003164151

NM_000051.4(ATM):c.5532C>G (p.Tyr1844Ter)

SNV
Germline

Chr11:108304710

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2135943149

2 SubmittersRCV001985141 RCV004043727

NM_000051.4(ATM):c.7448G>A (p.Trp2483Ter)

SNV
Germline

Chr11:108330354

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2136460393

1 SubmittersRCV001985212

NM_000051.4(ATM):c.7606G>T (p.Gly2536Ter)

SNV
Germline

Chr11:108331534

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2136497891

1 SubmittersRCV001958726

NM_000051.4(ATM):c.4544A>G (p.Asn1515Ser)

SNV
Germline

Chr11:108292726

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1565461414

2 SubmittersRCV002029209 RCV002337150

NM_000051.4(ATM):c.1899-4G>A

SNV
Germline

Chr11:108253810

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2135365402

2 SubmittersRCV002048236 RCV004681407

NM_000051.4(ATM):c.6125G>A (p.Trp2042Ter)

SNV
Germline

Chr11:108316040

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1565499657

1 SubmittersRCV001914621

NM_000051.4(ATM):c.7002C>G (p.Tyr2334Ter)

SNV
Germline

Chr11:108327671

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2136374351

1 SubmittersRCV001944161

NM_000051.4(ATM):c.2489T>C (p.Phe830Ser)

SNV
Germline

Chr11:108267193

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_773582901

3 SubmittersRCV001982192 RCV002425280

NM_000051.4(ATM):c.5799G>A (p.Trp1933Ter)

SNV
Germline

Chr11:108310196

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2084026241

1 SubmittersRCV001944341

NM_000051.4(ATM):c.2839-2A>C

SNV
Germline

Chr11:108271062

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1060501703

1 SubmittersRCV001980724

NM_000051.4(ATM):c.3078-2A>C

SNV
Germline

Chr11:108272530

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_2135564916

2 SubmittersRCV001888677 RCV004041231

NM_000051.4(ATM):c.7997C>T (p.Thr2666Ile)

SNV
Germline

Chr11:108333955

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_730881384

1 SubmittersRCV002005123

NM_000051.4(ATM):c.1235+2T>C

SNV
Germline

Chr11:108249104

Likely pathogenic

Ataxia-telangiectasia syndrome
Gastric cancer

Criteria Provided
Single Submitter

rs_2135296157

2 SubmittersRCV001969466 RCV003170285

NM_000051.4(ATM):c.1236-1G>C

SNV
Germline

Chr11:108250700

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1408719214

2 SubmittersRCV001937609 RCV002361123

NM_000051.4(ATM):c.9045G>C (p.Glu3015Asp)

SNV
Germline

Chr11:108365382

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_786203336

2 SubmittersRCV001896287 RCV004671502

NM_000051.4(ATM):c.6273G>A (p.Trp2091Ter)

SNV
Germline

Chr11:108317447

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136166539

2 SubmittersRCV001983073 RCV003170181

NM_000051.4(ATM):c.6573-12C>A

SNV
Germline

Chr11:108325298

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1057521666

4 SubmittersRCV002021047 RCV002361402 RCV003443000 RCV003471276

NM_000051.4(ATM):c.5574G>A (p.Trp1858Ter)

SNV
Germline

Chr11:108304752

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_2135944112

1 SubmittersRCV001892183

NM_000051.4(ATM):c.2329A>T (p.Arg777Ter)

SNV
Germline

Chr11:108257559

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

rs_1565397263

1 SubmittersRCV001892401

NM_000051.4(ATM):c.8152-1G>C

SNV
Germline

Chr11:108335844

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1398616877

3 SubmittersRCV001998146 RCV004044544 RCV004044545

NM_000051.4(ATM):c.6808-13A>G

SNV
Germline

Chr11:108326045

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_1410228904

3 SubmittersRCV002148155 RCV003585214 RCV004591794

NM_000051.4(ATM):c.1899-11C>G

SNV
Germline

Chr11:108253803

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_730881282

3 SubmittersRCV002087907 RCV002256909

NM_000051.4(ATM):c.5006-12T>G

SNV
Germline

Chr11:108299702

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_2083315314

4 SubmittersRCV002082765 RCV002258361 RCV003317574 RCV003471291

NM_000051.4(ATM):c.8584+16A>G

SNV
Germline

Chr11:108345924

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1322889530

2 SubmittersRCV002083028 RCV002443149

NM_000051.4(ATM):c.4909+17A>G

SNV
Germline

Chr11:108295076

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_550300834

2 SubmittersRCV002081305 RCV003303756

NM_000051.4(ATM):c.1923A>G (p.Glu641=)

SNV
Germline

Chr11:108253838

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

rs_2135366297

3 SubmittersRCV002180899 RCV002409538 RCV004591797

NM_000051.4(ATM):c.8672-9T>C

SNV
Germline

Chr11:108353757

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
not specified
Familial cancer of breast
ATM-related disorder

Criteria Provided
Conflicting Classifications

rs_2137283941

4 SubmittersRCV002210666 RCV002266110 RCV004591844 RCV004741260

NM_000051.4(ATM):c.3160C>A (p.Pro1054Thr)

SNV
Germline

Chr11:108272728

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_775095314

2 SubmittersRCV002164677 RCV002324523

NM_000051.4(ATM):c.6348-5C>T

SNV
Germline

Chr11:108319949

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1388651064

2 SubmittersRCV002124381 RCV004671657

NM_000051.4(ATM):c.4363A>C (p.Ser1455Arg)

SNV
Germline

Chr11:108289728

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2135763861

2 SubmittersRCV002116295 RCV004681451

NM_000051.4(ATM):c.2466+9G>T

SNV
Germline

Chr11:108259084

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2135422617

3 SubmittersRCV002143934 RCV004591815 RCV004999665

NM_000051.4(ATM):c.73-9T>C

SNV
Germline

Chr11:108227767

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1591446620

2 SubmittersRCV002152200 RCV002258385

NM_000051.4(ATM):c.331+2T>C

SNV
Germline

Chr11:108229325

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555055358

2 SubmittersRCV002240086 RCV004045171

NM_000051.4(ATM):c.1520T>A (p.Leu507Ter)

SNV
Germline

Chr11:108250985

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2135325561

3 SubmittersRCV002249279 RCV003308078 RCV003500690

NM_000051.4(ATM):c.3346C>T (p.Gln1116Ter)

SNV
Germline

Chr11:108279552

Pathogenic

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2135644009

3 SubmittersRCV002249280 RCV002325713 RCV003500691

NM_000051.4(ATM):c.1399G>A (p.Asp467Asn)

SNV
Germline

Chr11:108250864

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_2135321547

3 SubmittersRCV002258551 RCV003774775

NM_000051.4(ATM):c.3904G>A (p.Gly1302Ser)

SNV
Germline

Chr11:108284384

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_2135707999

3 SubmittersRCV002258602 RCV003094246

NM_000051.4(ATM):c.4436+3A>G

SNV
Germline

Chr11:108289804

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_2082686950

3 SubmittersRCV002255972 RCV003094252

NM_000051.4(ATM):c.5763-1056G>A

SNV
Germline

Chr11:108309104

Conflicting classifications of pathogenicity

Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
ATM-related disorder

Criteria Provided
Conflicting Classifications

rs_1325461375

4 SubmittersRCV002266554 RCV002352965 RCV003607435 RCV004548253

NM_000051.4(ATM):c.6348-8T>A

SNV
Germline

Chr11:108319946

Conflicting classifications of pathogenicity

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002289377 RCV003605782

NM_000051.4(ATM):c.6372C>G (p.Tyr2124Ter)

SNV
Germline

Chr11:108319978

Pathogenic

Breast and/or ovarian cancer
Familial cancer of breast
Ataxia-telangiectasia syndrome

Reviewed By Expert Panel

4 SubmittersRCV003150557 RCV003156018 RCV003605784

NM_000051.4(ATM):c.3078-2A>G

SNV
Germline

Chr11:108272530

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002319838 RCV003099174

NM_000051.4(ATM):c.3826C>T (p.Gln1276Ter)

SNV
Germline/somatic

Chr11:108284306

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV002364020 RCV003500712 RCV004048167 RCV004673668

NM_000051.4(ATM):c.331+5G>C

SNV
Germline

Chr11:108229328

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002326313 RCV003500704

NM_000051.4(ATM):c.3576G>C (p.Lys1192Asn)

SNV
Germline

Chr11:108281168

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002455039 RCV003775669

NM_000051.4(ATM):c.3745A>T (p.Arg1249Ter)

SNV
Germline

Chr11:108282878

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002363791 RCV003094342

NM_000051.4(ATM):c.4110-5G>C

SNV
Germline

Chr11:108288972

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002323412 RCV003500716

NM_000051.4(ATM):c.4159A>T (p.Lys1387Ter)

SNV
Germline

Chr11:108289026

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002333293 RCV003102530 RCV003464462

NM_000051.4(ATM):c.5763-3T>C

SNV
Germline

Chr11:108310157

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002359605 RCV003605810 RCV004591920

NM_000051.4(ATM):c.5982A>G (p.Lys1994=)

SNV
Germline

Chr11:108312474

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002356153 RCV003776192 RCV004591929

NM_000051.4(ATM):c.6338C>T (p.Thr2113Ile)

SNV
Germline

Chr11:108317512

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002354031 RCV003605812

NM_000051.4(ATM):c.4612-5T>C

SNV
Germline

Chr11:108293308

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002342468 RCV003500723 RCV004591903

NM_000051.4(ATM):c.4887G>A (p.Val1629=)

SNV
Germline

Chr11:108295037

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002340511 RCV003500726

NM_000051.4(ATM):c.5937A>G (p.Glu1979=)

SNV
Germline

Chr11:108312429

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002355902 RCV003098069 RCV004591927

NM_000051.4(ATM):c.5283G>A (p.Leu1761=)

SNV
Germline

Chr11:108301753

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002344470 RCV003605805 RCV004591911

NM_000051.4(ATM):c.4776+1G>A

SNV
Germline

Chr11:108293478

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002337749 RCV003775962

NM_000051.4(ATM):c.5238A>G (p.Gly1746=)

SNV
Germline

Chr11:108301708

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002340878 RCV003605803

NM_000051.4(ATM):c.5496+645T>G

SNV
Germline

Chr11:108303674

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002351564 RCV003096767

NM_000051.4(ATM):c.8787-1G>A

SNV
Germline

Chr11:108354810

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002373660 RCV002508851 RCV003605832

NM_000051.4(ATM):c.8850+1G>T

SNV
Germline

Chr11:108354875

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002373829 RCV003500754 RCV004056760

NM_000051.4(ATM):c.6829C>T (p.Gln2277Ter)

SNV
Germline

Chr11:108326079

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002369636 RCV003605817

NM_000051.4(ATM):c.7138A>G (p.Arg2380Gly)

SNV
Germline

Chr11:108329069

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002367480 RCV003776356

NM_000051.4(ATM):c.7186A>T (p.Thr2396Ser)

SNV
Germline

Chr11:108329117

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002370754 RCV003500739

NM_000051.4(ATM):c.7516-1G>C

SNV
Germline

Chr11:108331443

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002393798 RCV003103410

NM_000051.4(ATM):c.7516-2A>G

SNV
Germline

Chr11:108331442

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002393799 RCV003500743 RCV004056354

NM_000051.4(ATM):c.8683G>T (p.Glu2895Ter)

SNV
Germline

Chr11:108353777

Pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002449695 RCV003138234 RCV003500752

NM_000051.4(ATM):c.8712G>C (p.Glu2904Asp)

SNV
Germline

Chr11:108353806

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002373459 RCV003100007

NM_000051.4(ATM):c.914C>G (p.Ser305Ter)

SNV
Germline

Chr11:108246976

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002378790 RCV003605836

NM_000051.4(ATM):c.7072C>T (p.Gln2358Ter)

SNV
Germline

Chr11:108327741

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002365105 RCV003098465

NM_000051.4(ATM):c.7089G>C (p.Lys2363Asn)

SNV
Germline

Chr11:108327758

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002367255 RCV003607482

NM_000051.4(ATM):c.7336G>T (p.Glu2446Ter)

SNV
Germline

Chr11:108330242

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002380192 RCV003098549 RCV004697220

NM_000051.4(ATM):c.7349T>A (p.Leu2450Ter)

SNV
Germline

Chr11:108330255

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002380231 RCV003605821 RCV004055923

NM_000051.4(ATM):c.8010+2T>G

SNV
Germline

Chr11:108333970

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV002419221 RCV003099817 RCV003316867

NM_000051.4(ATM):c.1001C>G (p.Ser334Ter)

SNV
Germline

Chr11:108247063

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002383236 RCV003094922 RCV004057785

NM_000051.4(ATM):c.1638G>A (p.Leu546=)

SNV
Germline

Chr11:108251867

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002403496 RCV003100765

NM_000051.4(ATM):c.1644C>T (p.Thr548=)

SNV
Germline

Chr11:108251873

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002403600 RCV003607523

NM_000051.4(ATM):c.1803-1G>A

SNV
Germline

Chr11:108252816

Likely pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002410027 RCV003500777

NM_000051.4(ATM):c.1626G>A (p.Leu542=)

SNV
Germline

Chr11:108251855

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002401164 RCV003500770 RCV004593008

NM_000051.4(ATM):c.1894G>T (p.Glu632Ter)

SNV
Germline

Chr11:108252908

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002408082 RCV003500780 RCV004060218

NM_000051.4(ATM):c.1066-2A>G

SNV
Germline

Chr11:108248931

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

4 SubmittersRCV002415123 RCV003138256 RCV003097317

NM_000051.4(ATM):c.2260C>T (p.Gln754Ter)

SNV
Germline

Chr11:108257490

Pathogenic

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002443736 RCV003101179

NM_000051.4(ATM):c.1932A>T (p.Ser644=)

SNV
Germline

Chr11:108253847

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002410937 RCV003097364

NM_000051.4(ATM):c.2426C>G (p.Ser809Ter)

SNV
Germline

Chr11:108259035

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV002459842 RCV003465757 RCV003605844

NM_000051.4(ATM):c.3004G>T (p.Gly1002Cys)

SNV
Germline

Chr11:108271333

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002435704 RCV003500800

NM_000051.4(ATM):c.5918+2T>A

SNV
Germline

Chr11:108310317

Likely pathogenic

Ataxia-telangiectasia syndrome
Gastric cancer

Criteria Provided
Single Submitter

2 SubmittersRCV003103155 RCV003164570

NM_000051.4(ATM):c.1899-2A>C

SNV
Germline

Chr11:108253812

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Gastric cancer
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV003103157 RCV003289514 RCV003164586 RCV004067538

NM_000051.4(ATM):c.1803-270T>G

SNV
Germline

Chr11:108252547

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002467474

NM_000051.4(ATM):c.4858C>T (p.Gln1620Ter)

SNV
Germline

Chr11:108295008

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003062452

NM_000051.4(ATM):c.8269-1G>A

SNV
Germline

Chr11:108343221

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003037429 RCV003367961 RCV003336803

NM_000051.4(ATM):c.2376+7T>C

SNV
Germline

Chr11:108257613

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003087791 RCV004593153 RCV004999868

NM_000051.4(ATM):c.2467-13C>G

SNV
Germline

Chr11:108267158

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002637189 RCV004017962

NM_000051.4(ATM):c.8671+1G>A

SNV
Germline

Chr11:108347366

Likely pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002623901 RCV003358111 RCV004572799

NM_000051.4(ATM):c.1572G>A (p.Trp524Ter)

SNV
Germline

Chr11:108251037

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003112225 RCV003294624 RCV004244624

NM_000051.4(ATM):c.3994-14T>A

SNV
Germline

Chr11:108287586

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003115965 RCV003585368

NM_000051.4(ATM):c.2376+17C>G

SNV
Germline

Chr11:108257623

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002572558 RCV004017940

NM_000051.4(ATM):c.742C>G (p.Arg248Gly)

SNV
Germline

Chr11:108244867

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002601700

NM_000051.4(ATM):c.7926A>T (p.Arg2642Ser)

SNV
Germline

Chr11:108332899

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002635439 RCV003308193 RCV003482417

NM_000051.4(ATM):c.3470T>A (p.Leu1157Ter)

SNV
Germline

Chr11:108281062

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002646903 RCV003289586

NM_000051.4(ATM):c.497-2A>G

SNV
Germline

Chr11:108243951

Likely pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002666548 RCV004697235

NM_000051.4(ATM):c.36C>A (p.Cys12Ter)

SNV
Germline

Chr11:108227660

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002715095

NM_000051.4(ATM):c.2164T>C (p.Leu722=)

SNV
Germline

Chr11:108256254

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002786534 RCV004681548 RCV004999811

NM_000051.4(ATM):c.3077+9A>G

SNV
Germline

Chr11:108271415

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002775868 RCV004571252

NM_000051.4(ATM):c.40C>T (p.Gln14Ter)

SNV
Germline

Chr11:108227664

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002815780

NM_000051.4(ATM):c.2282C>G (p.Thr761Ser)

SNV
Germline

Chr11:108257512

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002825311 RCV004593067

NM_000051.4(ATM):c.5710A>T (p.Lys1904Ter)

SNV
Germline

Chr11:108307932

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002833200

NM_000051.4(ATM):c.72G>C (p.Lys24Asn)

SNV
Germline

Chr11:108227696

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002819736

NM_000051.4(ATM):c.6808-2A>G

SNV
Germline

Chr11:108326056

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002816251

NM_000051.4(ATM):c.4775A>T (p.Glu1592Val)

SNV
Germline

Chr11:108293476

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002815227

NM_000051.4(ATM):c.622A>T (p.Lys208Ter)

SNV
Germline

Chr11:108244078

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002834013

NM_000051.4(ATM):c.1608T>A (p.Cys536Ter)

SNV
Germline

Chr11:108251837

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002856791

NM_000051.4(ATM):c.2950C>T (p.Gln984Ter)

SNV
Germline

Chr11:108271279

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002828805 RCV004064933

NM_000051.4(ATM):c.4918C>T (p.Gln1640Ter)

SNV
Germline

Chr11:108297295

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002842687

NM_000051.4(ATM):c.8584+2T>A

SNV
Germline

Chr11:108345910

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002851794 RCV004064964

NM_000051.4(ATM):c.2839-11T>C

SNV
Germline

Chr11:108271053

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002843868 RCV004593076 RCV004017949

NM_000051.4(ATM):c.6006+1G>T

SNV
Germline

Chr11:108312499

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002880892 RCV003138373

NM_000051.4(ATM):c.5314A>T (p.Lys1772Ter)

SNV
Germline

Chr11:108301784

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002852405

NM_000051.4(ATM):c.7113T>A (p.Tyr2371Ter)

SNV
Germline

Chr11:108329044

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002847201 RCV004571379

NM_000051.4(ATM):c.2466+2T>C

SNV
Germline

Chr11:108259077

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002863426 RCV004065001

NM_000051.4(ATM):c.1235+1G>C

SNV
Germline

Chr11:108249103

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002863430

NM_000051.4(ATM):c.3077+3A>G

SNV
Germline

Chr11:108271409

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002886018 RCV004999823

NM_000051.4(ATM):c.3173G>A (p.Trp1058Ter)

SNV
Germline/somatic

Chr11:108272741

Pathogenic

Ataxia-telangiectasia syndrome
Malignant tumor of urinary bladder
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002886138 RCV003332389 RCV004066007

NM_000051.4(ATM):c.491G>A (p.Trp164Ter)

SNV
Germline

Chr11:108235829

Pathogenic

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004066153 RCV002917982

NM_000051.4(ATM):c.6573-5T>C

SNV
Germline

Chr11:108325305

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002894444 RCV004593090 RCV003358005

NM_000051.4(ATM):c.1552G>T (p.Glu518Ter)

SNV
Germline

Chr11:108251017

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002894693 RCV004065950

NM_000051.4(ATM):c.7927+2T>C

SNV
Germline

Chr11:108332902

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002872639 RCV004725405

NM_000051.4(ATM):c.4236+1G>A

SNV
Germline

Chr11:108289104

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002872727 RCV004571775

NM_000051.4(ATM):c.6380C>A (p.Ser2127Ter)

SNV
Germline

Chr11:108319986

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002872329

NM_000051.4(ATM):c.73-1G>C

SNV
Germline

Chr11:108227775

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002886239

NM_000051.4(ATM):c.757G>T (p.Glu253Ter)

SNV
Germline

Chr11:108244882

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002928012

NM_000051.4(ATM):c.4490T>G (p.Leu1497Ter)

SNV
Germline

Chr11:108292672

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002947427 RCV003455606

NM_000051.4(ATM):c.8418+704G>T

SNV
Germline

Chr11:108344075

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002932695 RCV003170579

NM_000051.4(ATM):c.1426C>T (p.Gln476Ter)

SNV
Germline

Chr11:108250891

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002967565 RCV004068328

NM_000051.4(ATM):c.7308-15A>G

SNV
Germline

Chr11:108330199

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002988515

NM_000051.4(ATM):c.8294G>C (p.Gly2765Ala)

SNV
Germline

Chr11:108343247

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002999492

NM_000051.4(ATM):c.5496+2T>A

SNV
Germline

Chr11:108303031

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003029472

NM_000051.4(ATM):c.8592C>A (p.Tyr2864Ter)

SNV
Germline

Chr11:108347286

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003032489

NM_000051.4(ATM):c.6452G>A (p.Arg2151Lys)

SNV
Germline

Chr11:108320058

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003032686 RCV004068680

NM_000051.4(ATM):c.4236+1G>C

SNV
Germline

Chr11:108289104

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003029584

NM_000051.4(ATM):c.2376+2T>G

SNV
Germline

Chr11:108257608

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003035421

NM_000051.4(ATM):c.6907A>T (p.Lys2303Ter)

SNV
Germline

Chr11:108326157

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003034960

NM_000051.4(ATM):c.662+2T>C

SNV
Germline

Chr11:108244120

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003027862

NM_000051.4(ATM):c.7688T>A (p.Leu2563Ter)

SNV
Germline

Chr11:108331937

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003054282

NM_000051.4(ATM):c.6096-2A>C

SNV
Germline

Chr11:108316009

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003054558

NM_000051.4(ATM):c.3403-1G>T

SNV
Germline

Chr11:108280994

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003044288

NM_000051.4(ATM):c.1362T>A (p.Tyr454Ter)

SNV
Germline

Chr11:108250827

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003056240

NM_000051.4(ATM):c.3078-16A>C

SNV
Germline

Chr11:108272516

Conflicting classifications of pathogenicity

not specified
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003123398 RCV003500805 RCV004593211

NM_000051.4(ATM):c.2638+304C>A

SNV
Germline

Chr11:108267646

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003176472 RCV003605857

NM_000051.4(ATM):c.4410T>A (p.Tyr1470Ter)

SNV
Germline

Chr11:108289775

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003230929

NM_000051.4(ATM):c.4864G>T (p.Glu1622Ter)

SNV
Germline

Chr11:108295014

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003238159 RCV004285666

NM_000051.4(ATM):c.8907T>G (p.Tyr2969Ter)

SNV
Germline

Chr11:108365138

Likely pathogenic

Ataxia-telangiectasia syndrome

No Assertion Criteria Provided

1 SubmittersRCV003238160

NM_000051.4(ATM):c.2639-1G>A

SNV
Germline

Chr11:108268409

Likely pathogenic

Ataxia-telangiectasia syndrome

No Assertion Criteria Provided

1 SubmittersRCV003238161

NM_000051.4(ATM):c.2839-5C>G

SNV
Germline

Chr11:108271059

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003283551 RCV003500831

NM_000051.4(ATM):c.9010A>T (p.Lys3004Ter)

SNV
Germline

Chr11:108365347

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003312990

NM_000051.4(ATM):c.3928C>T (p.Gln1310Ter)

SNV
Germline

Chr11:108284408

Pathogenic/Likely pathogenic

Familial cancer of breast
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003316922 RCV004796798

NM_000051.4(ATM):c.901+2T>G

SNV
Germline

Chr11:108245028

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003340940

NM_000051.4(ATM):c.1607+162A>G

SNV
Germline

Chr11:108251234

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003350788 RCV003777504 RCV004572951

NM_000051.4(ATM):c.7588A>T (p.Lys2530Ter)

SNV
Germline

Chr11:108331516

Pathogenic/Likely pathogenic

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003464919 RCV003500857

NM_000051.4(ATM):c.7473G>A (p.Trp2491Ter)

SNV
Germline

Chr11:108330379

Pathogenic/Likely pathogenic

Familial cancer of breast
Ataxia-telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003464924 RCV003500858

NM_000051.4(ATM):c.5320-2A>G

SNV
Unknown

Chr11:108302851

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003482207 RCV004364852

NM_000051.4(ATM):c.8732C>A (p.Thr2911Asn)

SNV
Germline

Chr11:108353826

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003486016

NM_000051.4(ATM):c.3153+5G>T

SNV
Germline

Chr11:108272612

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003500922 RCV004950372

NM_000051.4(ATM):c.4632C>A (p.Tyr1544Ter)

SNV
Germline

Chr11:108293333

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003501030

NM_000051.4(ATM):c.3891T>G (p.Tyr1297Ter)

SNV
Germline

Chr11:108284371

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003501144

NM_000051.4(ATM):c.5599C>T (p.Gln1867Ter)

SNV
Germline

Chr11:108304777

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003501146 RCV004366497 RCV004723353

NM_000051.4(ATM):c.6095+2T>A

SNV
Germline

Chr11:108315913

Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003501056 RCV004366477

NM_000051.4(ATM):c.1948G>T (p.Glu650Ter)

SNV
Germline

Chr11:108253863

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003500876 RCV004364915

NM_000051.4(ATM):c.5674G>T (p.Glu1892Ter)

SNV
Germline

Chr11:108304852

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003501162 RCV003585508 RCV004368974

NM_000051.4(ATM):c.6778A>T (p.Ile2260Leu)

SNV
Germline

Chr11:108325515

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003501348 RCV004950403

NM_000051.4(ATM):c.6572+2T>A

SNV
Germline

Chr11:108321422

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003501357

NM_000051.4(ATM):c.2251-5A>T

SNV
Germline

Chr11:108257476

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003501296 RCV004673907 RCV004593322

NM_000051.4(ATM):c.6433G>T (p.Glu2145Ter)

SNV
Germline

Chr11:108320039

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003501474

NM_000051.4(ATM):c.72G>A (p.Lys24=)

SNV
Germline

Chr11:108227696

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003501566

NM_000051.4(ATM):c.3624C>T (p.Asp1208=)

SNV
Germline

Chr11:108282757

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

4 SubmittersRCV003501860 RCV003584166 RCV004593348

NM_000051.4(ATM):c.73-2A>G

SNV
Germline

Chr11:108227774

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003501708

NM_000051.4(ATM):c.465C>G (p.Tyr155Ter)

SNV
Germline

Chr11:108235803

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003501709

NM_000051.4(ATM):c.925A>T (p.Arg309Ter)

SNV
Germline

Chr11:108246987

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003501710

NM_000051.4(ATM):c.2135C>A (p.Ser712Ter)

SNV
Germline

Chr11:108256225

Pathogenic/Likely pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

5 SubmittersRCV003501711 RCV004369273 RCV003584121

NM_000051.4(ATM):c.4777-2A>G

SNV
Germline

Chr11:108294925

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003501854

NM_000051.4(ATM):c.3900T>G (p.Tyr1300Ter)

SNV
Germline

Chr11:108284380

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003500099

NM_000051.4(ATM):c.7297C>T (p.Gln2433Ter)

SNV
Germline

Chr11:108329228

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003502003

NM_000051.4(ATM):c.2583C>G (p.Tyr861Ter)

SNV
Germline

Chr11:108267287

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003500025

NM_000051.4(ATM):c.4326T>A (p.Tyr1442Ter)

SNV
Germline

Chr11:108289691

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003500020

NM_000051.4(ATM):c.5385G>A (p.Trp1795Ter)

SNV
Germline

Chr11:108302918

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003500127

NM_000051.4(ATM):c.8440G>T (p.Glu2814Ter)

SNV
Germline

Chr11:108345764

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003501983 RCV004369370

NM_000051.4(ATM):c.6808-1G>A

SNV
Germline

Chr11:108326057

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003500010

NM_000051.4(ATM):c.5745C>A (p.Tyr1915Ter)

SNV
Germline

Chr11:108307967

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003500313

NM_000051.4(ATM):c.3891T>A (p.Tyr1297Ter)

SNV
Germline

Chr11:108284371

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003500359

NM_000051.4(ATM):c.76G>T (p.Glu26Ter)

SNV
Germline

Chr11:108227779

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003500339

NM_000051.4(ATM):c.6322C>T (p.Gln2108Ter)

SNV
Germline

Chr11:108317496

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV003605880 RCV004371484 RCV003585885

NM_000051.4(ATM):c.5763-1G>C

SNV
Germline

Chr11:108310159

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003605912

NM_000051.4(ATM):c.8987+2T>A

SNV
Germline

Chr11:108365220

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003605915

NM_000051.4(ATM):c.4270G>T (p.Glu1424Ter)

SNV
Germline

Chr11:108289635

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003606193

NM_000051.4(ATM):c.1065+2T>C

SNV
Germline

Chr11:108247129

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003606188

NM_000051.4(ATM):c.663-2A>T

SNV
Germline

Chr11:108244786

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003606107

NM_000051.4(ATM):c.5178-2A>C

SNV
Germline

Chr11:108301646

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003606124

NM_000051.4(ATM):c.5827A>T (p.Lys1943Ter)

SNV
Germline

Chr11:108310224

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003606127

NM_000051.4(ATM):c.46G>T (p.Glu16Ter)

SNV
Germline

Chr11:108227670

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003606290

NM_000051.4(ATM):c.3226C>T (p.Gln1076Ter)

SNV
Germline

Chr11:108272794

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003606309 RCV004371712

NM_000051.4(ATM):c.4611+1G>T

SNV
Germline

Chr11:108292794

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003606305

NM_000051.4(ATM):c.5678C>A (p.Ser1893Ter)

SNV
Germline

Chr11:108307900

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003606478

NM_000051.4(ATM):c.6154G>T (p.Glu2052Ter)

SNV
Germline

Chr11:108316069

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003605126

NM_000051.4(ATM):c.7340T>A (p.Leu2447Ter)

SNV
Germline

Chr11:108330246

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003606452

NM_000051.4(ATM):c.4749C>A (p.Tyr1583Ter)

SNV
Germline

Chr11:108293450

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003606521 RCV004371757

NM_000051.4(ATM):c.1899-8T>C

SNV
Germline

Chr11:108253806

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003605401 RCV004593422

NM_000051.4(ATM):c.6199-1G>A

SNV
Germline

Chr11:108317372

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003605524

NM_000051.4(ATM):c.3617T>G (p.Leu1206Ter)

SNV
Germline

Chr11:108282750

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003605525 RCV004371904

NM_000051.4(ATM):c.5177+2T>A

SNV
Germline

Chr11:108299887

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003605386

NM_000051.4(ATM):c.6742A>T (p.Lys2248Ter)

SNV
Germline

Chr11:108325479

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003605446 RCV004371874

NM_000051.4(ATM):c.1991C>T (p.Thr664Ile)

SNV
Germline

Chr11:108253906

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003605544 RCV004776458 RCV004950586

NM_000051.4(ATM):c.6889C>T (p.Gln2297Ter)

SNV
Germline

Chr11:108326139

Pathogenic

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003606644 RCV004373956

NM_000051.4(ATM):c.3154-12C>A

SNV
Germline

Chr11:108272710

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003606667 RCV004018002

NM_000051.4(ATM):c.1724C>G (p.Ser575Ter)

SNV
Germline

Chr11:108251953

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003606689

NM_000051.4(ATM):c.1065+19G>A

SNV
Germline

Chr11:108247146

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003606745 RCV004018004

NM_000051.4(ATM):c.7307+8G>A

SNV
Germline

Chr11:108329246

Conflicting classifications of pathogenicity

Ataxia-telangiectasia syndrome
Familial cancer of breast

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003606812 RCV004593439

NM_000051.4(ATM):c.3397G>T (p.Glu1133Ter)

SNV
Germline

Chr11:108279603

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003842949

NM_000051.4(ATM):c.1802+1G>A

SNV
Germline

Chr11:108252032

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003860252

NM_000051.4(ATM):c.5714C>G (p.Ser1905Ter)

SNV
Germline

Chr11:108307936

Pathogenic

Ataxia-telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003866125 RCV004950742

NM_000051.4(ATM):c.8031T>G (p.Tyr2677Ter)

SNV
Germline

Chr11:108334989

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004018193

NM_000051.4(ATM):c.6725C>A (p.Ser2242Ter)

SNV
Germline

Chr11:108325462

Pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004595833

NM_000051.4(ATM):c.1235+2T>A

SNV
Germline

Chr11:108249104

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004771699

NM_000051.4(ATM):c.2674A>T (p.Lys892Ter)

SNV
Germline

Chr11:108268445

Likely pathogenic

Ataxia-telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004821444