Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000038.6(APC):c.1660C>T (p.Arg554Ter)	SNV Germline/somatic	Chr5:112828889	Pathogenic	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Colorectal cancer, susceptibility to Familial multiple polyposis syndrome Hepatocellular carcinoma Neoplasm of stomach Familial adenomatous polyposis 1 Carcinoma of colon Desmoid disease, hereditary Condition: not provided Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA005424	rs_137854573	13 SubmittersRCV000000845 RCV000129303 RCV000210172 RCV000844608 RCV000763541 RCV000482405 RCV003162203
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter)	SNV Germline	Chr5:112838399	Pathogenic	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer, susceptibility to Desmoid disease, hereditary Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach Carcinoma of colon Familial multiple polyposis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA007805	rs_137854575	19 SubmittersRCV000000848 RCV000129305 RCV000202012 RCV000210151 RCV000763542 RCV000844610
NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile)	SNV Somatic	Chr3:41224634	Likely pathogenic	Desmoid disease, hereditary Pilomatrixoma	Criteria Provided Single Submitter	CA127281	rs_121913413	2 SubmittersRCV004562216 RCV000019152
NM_000038.6(APC):c.2438A>G (p.Asn813Ser)	SNV Germline	Chr5:112838032	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 not specified Desmoid disease, hereditary Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA007470	rs_201522866	12 SubmittersRCV000162586 RCV000034381 RCV004566795 RCV001268977 RCV005357247
NM_000038.6(APC):c.607C>G (p.Gln203Glu)	SNV Germline	Chr5:112780865	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified APC-Associated Polyposis Disorders Desmoid disease, hereditary Familial adenomatous polyposis 1 Familial multiple polyposis syndrome Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA010884	rs_141576417	23 SubmittersRCV000034394 RCV000115109 RCV000120051 RCV001156934 RCV000709878 RCV000757929 RCV004803098 RCV000987552
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly)	SNV Germline	Chr5:112842318	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Familial multiple polyposis syndrome Familial adenomatous polyposis 1 Carcinoma of colon Desmoid disease, hereditary Familial adenomatous polyposis 1 Neoplasm of stomach Carcinoma of colon Hepatocellular carcinoma APC-Associated Polyposis Disorders APC-related disorder	Criteria Provided Conflicting Classifications	CA012449	rs_201375478	19 SubmittersRCV000034395 RCV000115114 RCV000211930 RCV000664301 RCV000987580 RCV001353961 RCV000515374 RCV001151801 RCV003944874
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser)	SNV Germline	Chr5:112842630	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Carcinoma of colon Hepatocellular carcinoma Desmoid disease, hereditary Familial adenomatous polyposis 1 Neoplasm of stomach Familial adenomatous polyposis 1 APC-Associated Polyposis Disorders	Criteria Provided Conflicting Classifications	CA012759	rs_200756935	17 SubmittersRCV000034397 RCV000115118 RCV000120030 RCV000515182 RCV001083312 RCV001153053
NM_000038.6(APC):c.1604C>T (p.Ser535Phe)	SNV Germline	Chr5:112827984	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided not specified APC-related disorder Desmoid disease, hereditary Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA005357	rs_75870842	16 SubmittersRCV000144567 RCV000159535 RCV000034404 RCV000035065 RCV003904891 RCV005357248
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser)	SNV Germline	Chr5:112839966	Conflicting classifications of pathogenicity	Condition: not provided Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Neoplasm of stomach Desmoid disease, hereditary Carcinoma of colon Hepatocellular carcinoma Hereditary cancer Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA009490	rs_143796828	12 SubmittersRCV000034415 RCV000196865 RCV000159555 RCV000515179 RCV003492325 RCV003996164
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp)	SNV Germline	Chr5:112840986	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Desmoid disease, hereditary APC-related disorder	Criteria Provided Conflicting Classifications	CA010373	rs_200794097	14 SubmittersRCV000035077 RCV000034417 RCV000167996 RCV000491791 RCV005364907 RCV004739317
NM_000038.6(APC):c.7717A>G (p.Ile2573Val)	SNV Germline	Chr5:112843311	Conflicting classifications of pathogenicity	Condition: not provided Familial adenomatous polyposis 1 not specified Colorectal adenoma Hereditary cancer-predisposing syndrome Desmoid disease, hereditary Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA013990	rs_145444830	17 SubmittersRCV000034421 RCV000122803 RCV000236063 RCV000148373 RCV000163980 RCV005357250
NM_000038.6(APC):c.694C>T (p.Arg232Ter)	SNV Germline/somatic	Chr5:112792494	Pathogenic	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Familial multiple polyposis syndrome Condition: not provided Familial adenomatous polyposis 1 Neoplasm of stomach Desmoid disease, hereditary Carcinoma of colon Hepatocellular carcinoma Neoplasm	Reviewed By Expert Panel	CA012693	rs_397515734	18 SubmittersRCV000035081 RCV000491782 RCV000844606 RCV000486263 RCV000763537 RCV004668751
NM_000038.6(APC):c.5363G>A (p.Arg1788His)	SNV Germline	Chr5:112840957	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial adenomatous polyposis 1 APC-Associated Polyposis Disorders Condition: not provided Desmoid disease, hereditary Carcinoma of colon Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach	Criteria Provided Conflicting Classifications	CA010335	rs_201472075	12 SubmittersRCV000159559 RCV000211922 RCV000232274 RCV000393057 RCV000590729 RCV000764566
NM_000038.6(APC):c.2413C>T (p.Arg805Ter)	SNV Germline/somatic	Chr5:112838007	Pathogenic	Hereditary cancer-predisposing syndrome Familial multiple polyposis syndrome Condition: not provided Desmoid disease, hereditary APC-related attenuated familial adenomatous polyposis Gastric adenocarcinoma and proximal polyposis of the stomach Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis APC-related disorder Familial adenomatous polyposis 1 Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA007452	rs_587779783	14 SubmittersRCV000115073 RCV000501097 RCV001270020 RCV001292808 RCV001824606 RCV003997211 RCV003935094 RCV004562255 RCV004668779
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu)	SNV Germline	Chr5:112841122	Conflicting classifications of pathogenicity	not specified Familial multiple polyposis syndrome Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 Desmoid disease, hereditary Diffuse midline glioma, H3 K27-altered 6 conditions	Criteria Provided Conflicting Classifications	CA010490	rs_368080169	20 SubmittersRCV000115104 RCV000202997 RCV000148372 RCV000572635 RCV000679068 RCV005359059 RCV003315229 RCV005042204
NM_000038.6(APC):c.646C>T (p.Arg216Ter)	SNV Germline/somatic	Chr5:112792446	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Hepatocellular carcinoma Neoplasm of stomach Familial adenomatous polyposis 1 Carcinoma of colon Desmoid disease, hereditary Familial multiple polyposis syndrome Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis 6 conditions Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA012198	rs_62619935	16 SubmittersRCV000115111 RCV000223521 RCV000763536 RCV002281931 RCV003460798 RCV003997226 RCV004796021 RCV004668780
NM_000038.6(APC):c.8261G>A (p.Ser2754Asn)	SNV Germline	Chr5:112843855	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided not specified APC-related disorder Desmoid disease, hereditary Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA014491	rs_369721828	15 SubmittersRCV000115128 RCV000197863 RCV000590250 RCV000722129 RCV003952546 RCV005359061 RCV003997232
NM_000038.6(APC):c.4237A>G (p.Met1413Val)	SNV Germline	Chr5:112839831	Conflicting classifications of pathogenicity	not specified Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Colorectal adenoma Condition: not provided APC-related disorder Desmoid disease, hereditary	Criteria Provided Conflicting Classifications	CA009368	rs_141519952	17 SubmittersRCV000120015 RCV000122777 RCV000131786 RCV000148358 RCV000589855 RCV003915187 RCV005359126
NM_000038.6(APC):c.3875C>T (p.Thr1292Met)	SNV Germline	Chr5:112839469	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided Desmoid disease, hereditary Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA008722	rs_371113837	14 SubmittersRCV000120026 RCV000129039 RCV000198586 RCV000657042 RCV005359127
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu)	SNV Germline	Chr5:112843084	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome APC-Associated Polyposis Disorders Condition: not provided Familial adenomatous polyposis 1 Desmoid disease, hereditary	Criteria Provided Conflicting Classifications	CA013717	rs_141010008	20 SubmittersRCV000120032 RCV000131590 RCV001153055 RCV000587624 RCV004562271 RCV005359128
NM_000038.6(APC):c.3007G>A (p.Asp1003Asn)	SNV Germline	Chr5:112838601	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 Desmoid disease, hereditary Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA007992	rs_564314108	10 SubmittersRCV000120035 RCV000568678 RCV001775597 RCV004019666 RCV005359129 RCV003997331
NM_000038.6(APC):c.8332G>T (p.Ala2778Ser)	SNV Germline	Chr5:112843926	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Neoplasm of the liver Hepatocellular carcinoma Intrahepatic cholangiocarcinoma Condition: not provided APC-related disorder Familial adenomatous polyposis 1 Desmoid disease, hereditary	Criteria Provided Conflicting Classifications	CA014561	rs_587778046	12 SubmittersRCV000120047 RCV000163521 RCV000199434 RCV000677785 RCV000677786 RCV000677787 RCV001704030 RCV003952585 RCV005359131
NM_000038.6(APC):c.385G>C (p.Glu129Gln)	SNV Germline	Chr5:112767353	Conflicting classifications of pathogenicity	not specified Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 Desmoid disease, hereditary APC-related disorder	Criteria Provided Conflicting Classifications	CA008713	rs_376628500	15 SubmittersRCV000120050 RCV000196705 RCV000216893 RCV000589545 RCV005359132 RCV004739410
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)	SNV Germline	Chr5:112841395	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome not specified Colorectal cancer, susceptibility to Familial multiple polyposis syndrome Condition: not provided APC-Associated Polyposis Disorders Carcinoma of colon Desmoid disease, hereditary Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach APC-related disorder Hereditary cancer Classic or attenuated familial adenomatous polyposis 6 conditions	Criteria Provided Conflicting Classifications	CA010706	rs_587780600	19 SubmittersRCV000122787 RCV000159562 RCV000211923 RCV000210078 RCV000210900 RCV000656747 RCV001155575 RCV000764567 RCV003398739 RCV005235024 RCV005359149 RCV005031631
NM_000038.6(APC):c.8266A>G (p.Ile2756Val)	SNV Germline	Chr5:112843860	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Colorectal adenoma Condition: not provided Hereditary cancer-predisposing syndrome not specified APC-Associated Polyposis Disorders Desmoid disease, hereditary Familial adenomatous polyposis 1 Ovarian cancer	Criteria Provided Conflicting Classifications	CA014501	rs_146115809	17 SubmittersRCV000122809 RCV000148374 RCV000587542 RCV000493019 RCV001549270 RCV001157355 RCV005365010 RCV003153406
NM_000038.6(APC):c.637C>T (p.Arg213Ter)	SNV Germline/somatic	Chr5:112780895	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 Neoplasm of stomach Desmoid disease, hereditary Carcinoma of colon Hepatocellular carcinoma Familial adenomatous polyposis 1 Familial multiple polyposis syndrome Carcinoma of colon Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA011131	rs_587781392	11 SubmittersRCV000129233 RCV000202175 RCV000763535 RCV002512529 RCV000825611 RCV001353439 RCV004668789
NM_000038.6(APC):c.854A>G (p.Asp285Gly)	SNV Germline	Chr5:112815514	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 6 conditions Classic or attenuated familial adenomatous polyposis Desmoid disease, hereditary Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA015607	rs_201093383	10 SubmittersRCV000129720 RCV000211896 RCV000229223 RCV002478388 RCV003997520 RCV005359212
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)	SNV Germline	Chr5:112843983	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 APC-Associated Polyposis Disorders Condition: not provided Hepatocellular carcinoma Desmoid disease, hereditary Familial adenomatous polyposis 1 Neoplasm of stomach Carcinoma of colon not specified Desmoid disease, hereditary	Criteria Provided Conflicting Classifications	CA015444	rs_147287751	17 SubmittersRCV000129949 RCV000198030 RCV000283075 RCV000656753 RCV000515282 RCV002267871 RCV005359221
NM_000038.6(APC):c.6639G>A (p.Met2213Ile)	SNV Germline	Chr5:112842233	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided Hepatocellular carcinoma Desmoid disease, hereditary Familial adenomatous polyposis 1 Neoplasm of stomach Carcinoma of colon APC-Associated Polyposis Disorders not specified Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA012330	rs_35540155	12 SubmittersRCV000130211 RCV000409211 RCV000484737 RCV000765788 RCV001157265 RCV002222403 RCV005359230
NM_000038.6(APC):c.8276G>A (p.Arg2759His)	SNV Germline	Chr5:112843870	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Neoplasm of stomach Desmoid disease, hereditary Carcinoma of colon Hepatocellular carcinoma APC-related disorder Familial adenomatous polyposis 1 Condition: not provided not specified Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA014525	rs_538289470	10 SubmittersRCV000130304 RCV000765791 RCV003430706 RCV003764867 RCV001549810 RCV002469020 RCV003998055
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys)	SNV Germline	Chr5:112842273	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial adenomatous polyposis 1 Colorectal cancer, susceptibility to Condition: not provided APC-related disorder Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1 Desmoid disease, hereditary	Criteria Provided Conflicting Classifications	CA012371	rs_367905430	15 SubmittersRCV000131588 RCV000211929 RCV000234415 RCV000210106 RCV000590651 RCV004739454 RCV003998109 RCV005359274
NM_000038.6(APC):c.847C>T (p.Arg283Ter)	SNV Germline/somatic	Chr5:112815507	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial multiple polyposis syndrome Desmoid disease, hereditary Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach Carcinoma of colon 6 conditions Carcinoma of colon Familial adenomatous polyposis 1 Colorectal cancer	Reviewed By Expert Panel	CA015543	rs_786201856	15 SubmittersRCV000202113 RCV000164351 RCV000501350 RCV000763538 RCV005031679 RCV001353622 RCV002517615 RCV004813067
NM_000038.6(APC):c.5105G>A (p.Gly1702Glu)	SNV Germline	Chr5:112840699	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided Desmoid disease, hereditary Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach Carcinoma of colon Classic or attenuated familial adenomatous polyposis not specified	Criteria Provided Conflicting Classifications	CA009865	rs_769273526	11 SubmittersRCV000163348 RCV000231340 RCV000758732 RCV000764565 RCV003995246 RCV002267901
NM_000038.6(APC):c.2240C>T (p.Ser747Leu)	SNV Germline	Chr5:112837834	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis Desmoid disease, hereditary	Criteria Provided Conflicting Classifications	CA007315	rs_773020689	9 SubmittersRCV000484713 RCV000218100 RCV002291585 RCV003995610 RCV005361047
NM_000038.6(APC):c.1606G>A (p.Glu536Lys)	SNV Germline	Chr5:112827986	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Desmoid disease, hereditary Carcinoma of colon Hereditary cancer	Criteria Provided Conflicting Classifications	CA028603	rs_138098808	11 SubmittersRCV000199835 RCV000217491 RCV000235744 RCV000656746 RCV000764561 RCV005235100
NM_000038.6(APC):c.8017A>G (p.Arg2673Gly)	SNV Germline	Chr5:112843611	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided 6 conditions Familial adenomatous polyposis 1 Desmoid disease, hereditary	Criteria Provided Conflicting Classifications	CA049665	rs_767286063	9 SubmittersRCV000202229 RCV000572076 RCV000766698 RCV002500621 RCV002515464 RCV005361140
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly)	SNV Germline	Chr5:112844056	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Condition: not provided Hereditary cancer-predisposing syndrome Desmoid disease, hereditary Carcinoma of colon Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach not specified Classic or attenuated familial adenomatous polyposis APC-related disorder	Criteria Provided Conflicting Classifications	CA050869	rs_780049836	11 SubmittersRCV000196318 RCV000478701 RCV000567493 RCV000765792 RCV000779724 RCV003996983 RCV004725054
NM_000038.6(APC):c.1312+3A>G	SNV Germline	Chr5:112819347	Pathogenic	Condition: not provided Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Carcinoma of colon Carcinoma of colon Desmoid disease, hereditary Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach APC-related disorder Familial multiple polyposis syndrome Classic or attenuated familial adenomatous polyposis	Reviewed By Expert Panel	CA279764	rs_863225311	17 SubmittersRCV000202161 RCV000204247 RCV000490831 RCV000500343 RCV000763540 RCV003422107 RCV003987449 RCV003997041
NM_000038.6(APC):c.933+1G>A	SNV Germline	Chr5:112815594	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Hepatocellular carcinoma Familial adenomatous polyposis 1 Carcinoma of colon Desmoid disease, hereditary Neoplasm of stomach Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA10578303	rs_876660765	4 SubmittersRCV000217532 RCV000763539 RCV004563220
NM_000038.6(APC):c.1276G>T (p.Ala426Ser)	SNV Germline	Chr5:112819308	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis Desmoid disease, hereditary Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA026974	rs_200598389	8 SubmittersRCV000222204 RCV001571736 RCV004020654 RCV003997839 RCV005361270
NM_000038.6(APC):c.1553C>T (p.Thr518Met)	SNV Germline	Chr5:112827933	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Hepatocellular carcinoma Carcinoma of colon Neoplasm of stomach Desmoid disease, hereditary Familial adenomatous polyposis 1 Condition: not provided not specified Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA028394	rs_371453363	11 SubmittersRCV000221284 RCV000461223 RCV000764560 RCV001284232 RCV004689682 RCV004804894
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys)	SNV Germline	Chr5:112838068	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Carcinoma of colon Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Desmoid disease, hereditary not specified Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA032224	rs_186641437	9 SubmittersRCV000220641 RCV000485918 RCV000764563 RCV001174911 RCV002515684 RCV004804912
NM_000038.6(APC):c.4963A>G (p.Thr1655Ala)	SNV Germline	Chr5:112840557	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided Classic or attenuated familial adenomatous polyposis 6 conditions Desmoid disease, hereditary Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA10582320	rs_759441332	14 SubmittersRCV000233240 RCV000567766 RCV000590193 RCV003998672 RCV002487042 RCV005365172
NM_000038.6(APC):c.5282A>C (p.Asn1761Thr)	SNV Germline	Chr5:112840876	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Condition: not provided Hereditary cancer-predisposing syndrome Classic or attenuated familial adenomatous polyposis 6 conditions Desmoid disease, hereditary Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA10582324	rs_752038930	13 SubmittersRCV000230741 RCV000586532 RCV000573026 RCV003998675 RCV002487043 RCV005365173
NM_000038.6(APC):c.934-14C>T	SNV Germline	Chr5:112818952	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome APC-Associated Polyposis Disorders Condition: not provided Classic or attenuated familial adenomatous polyposis Desmoid disease, hereditary	Criteria Provided Conflicting Classifications	CA051264	rs_778707022	8 SubmittersRCV000410782 RCV000583876 RCV001151509 RCV001618683 RCV003995912 RCV005355696
NM_000038.6(APC):c.791A>G (p.Gln264Arg)	SNV Germline	Chr5:112801340	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Desmoid disease, hereditary Carcinoma of colon Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA049479	rs_369345931	8 SubmittersRCV000483155 RCV000575683 RCV000764559 RCV002525602 RCV004001922
NM_001127511.3(APC):c.-204A>G	SNV Germline	Chr5:112707514	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Hepatocellular carcinoma Neoplasm of stomach Desmoid disease, hereditary Carcinoma of colon APC-related disorder Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA124924789	rs_554351451	3 SubmittersRCV000764556 RCV003935480 RCV004568906
NM_000038.6(APC):c.1762G>A (p.Val588Ile)	SNV Germline	Chr5:112834969	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Desmoid disease, hereditary Neoplasm of stomach Familial adenomatous polyposis 1 Carcinoma of colon Hepatocellular carcinoma Hereditary cancer-predisposing syndrome Carcinoma of colon Condition: not provided Ovarian cancer not specified APC-related disorder Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA029508	rs_372416031	13 SubmittersRCV000554226 RCV000764562 RCV000561260 RCV001356454 RCV005000185 RCV003153714 RCV003493637 RCV003403312 RCV003999361
NM_000038.6(APC):c.768T>G (p.Asp256Glu)	SNV Germline	Chr5:112801317	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Desmoid disease, hereditary Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA16023012	rs_764268036	8 SubmittersRCV001026715 RCV000985321 RCV005357598 RCV003999432 RCV004569022
NM_001127511.3(APC):c.-128G>C	SNV Germline	Chr5:112707590	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Hepatocellular carcinoma Neoplasm of stomach Desmoid disease, hereditary Carcinoma of colon APC-related disorder Familial adenomatous polyposis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA124924970	rs_543098847	4 SubmittersRCV000764557 RCV003960352 RCV004561543 RCV004584747
NM_000038.6(APC):c.6736G>A (p.Val2246Ile)	SNV Germline	Chr5:112842330	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Desmoid disease, hereditary Carcinoma of colon Condition: not provided Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA16036051	rs_1055180096	9 SubmittersRCV000569003 RCV000646326 RCV000765789 RCV001775901 RCV004001183
NM_000038.6(APC):c.4670T>A (p.Ile1557Asn)	SNV Germline	Chr5:112840264	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Classic or attenuated familial adenomatous polyposis Colorectal cancer Gastric adenocarcinoma and proximal polyposis of the stomach Desmoid disease, hereditary Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA16031568	rs_769121879	4 SubmittersRCV000579761 RCV004001227 RCV004730984
NM_000038.6(APC):c.3404A>G (p.Tyr1135Cys)	SNV Germline	Chr5:112838998	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Desmoid disease, hereditary Familial adenomatous polyposis 1 Ovarian cancer Classic or attenuated familial adenomatous polyposis Familial multiple polyposis syndrome	Criteria Provided Conflicting Classifications	CA035239	rs_754916822	7 SubmittersRCV000581738 RCV003767285 RCV005357730 RCV003153753 RCV004001289 RCV005240229
NM_000038.6(APC):c.3867T>A (p.Cys1289Ter)	SNV Germline	Chr5:112839461	Pathogenic	Condition: not provided Carcinoma of colon Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach Desmoid disease, hereditary Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA16029816	rs_1554085355	5 SubmittersRCV000657604 RCV000763543 RCV002360677 RCV004563567
NM_000038.6(APC):c.2719G>C (p.Gly907Arg)	SNV Germline	Chr5:112838313	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Desmoid disease, hereditary Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA033134	rs_771458366	5 SubmittersRCV001016394 RCV003141857 RCV004002836 RCV004562803
NM_000038.6(APC):c.6230C>T (p.Thr2077Ile)	SNV Germline	Chr5:112841824	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1 Familial adenomatous polyposis 1 Desmoid disease, hereditary	Criteria Provided Conflicting Classifications	CA044126	rs_755022193	6 SubmittersRCV000985313 RCV001025030 RCV004004405 RCV004569825 RCV005367650
NM_000038.6(APC):c.6744A>G (p.Lys2248=)	SNV Germline	Chr5:112842338	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Gastric cancer Desmoid disease, hereditary Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA446209980	rs_1266979535	3 SubmittersRCV003770269 RCV005359976 RCV004659429
NM_000038.6(APC):c.992C>A (p.Ser331Ter)	SNV Germline	Chr5:112819024	Pathogenic	Desmoid disease, hereditary	Criteria Provided Single Submitter			1 SubmittersRCV005360220

NM_000038.6(APC):c.1660C>T (p.Arg554Ter)

SNV
Germline/somatic

Chr5:112828889

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Colorectal cancer, susceptibility to
Familial multiple polyposis syndrome
Hepatocellular carcinoma
Neoplasm of stomach
Familial adenomatous polyposis 1
Carcinoma of colon
Desmoid disease, hereditary
Condition: not provided
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA005424

rs_137854573

13 SubmittersRCV000000845 RCV000129303 RCV000210172 RCV000844608 RCV000763541 RCV000482405 RCV003162203

NM_000038.6(APC):c.2805C>A (p.Tyr935Ter)

SNV
Germline

Chr5:112838399

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Colorectal cancer, susceptibility to
Desmoid disease, hereditary
Hepatocellular carcinoma
Familial adenomatous polyposis 1
Neoplasm of stomach
Carcinoma of colon
Familial multiple polyposis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA007805

rs_137854575

19 SubmittersRCV000000848 RCV000129305 RCV000202012 RCV000210151 RCV000763542 RCV000844610

NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile)

SNV
Somatic

Chr3:41224634

Likely pathogenic

Desmoid disease, hereditary
Pilomatrixoma

Criteria Provided
Single Submitter

CA127281

rs_121913413

2 SubmittersRCV004562216 RCV000019152

NM_000038.6(APC):c.2438A>G (p.Asn813Ser)

SNV
Germline

Chr5:112838032

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
not specified
Desmoid disease, hereditary
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA007470

rs_201522866

12 SubmittersRCV000162586 RCV000034381 RCV004566795 RCV001268977 RCV005357247

NM_000038.6(APC):c.607C>G (p.Gln203Glu)

SNV
Germline

Chr5:112780865

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
APC-Associated Polyposis Disorders
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Familial multiple polyposis syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA010884

rs_141576417

23 SubmittersRCV000034394 RCV000115109 RCV000120051 RCV001156934 RCV000709878 RCV000757929 RCV004803098 RCV000987552

NM_000038.6(APC):c.6724A>G (p.Ser2242Gly)

SNV
Germline

Chr5:112842318

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Familial multiple polyposis syndrome
Familial adenomatous polyposis 1
Carcinoma of colon
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Neoplasm of stomach
Carcinoma of colon
Hepatocellular carcinoma
APC-Associated Polyposis Disorders
APC-related disorder

Criteria Provided
Conflicting Classifications

CA012449

rs_201375478

19 SubmittersRCV000034395 RCV000115114 RCV000211930 RCV000664301 RCV000987580 RCV001353961 RCV000515374 RCV001151801 RCV003944874

NM_000038.6(APC):c.7036C>T (p.Pro2346Ser)

SNV
Germline

Chr5:112842630

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Carcinoma of colon
Hepatocellular carcinoma
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Neoplasm of stomach
Familial adenomatous polyposis 1
APC-Associated Polyposis Disorders

Criteria Provided
Conflicting Classifications

CA012759

rs_200756935

17 SubmittersRCV000034397 RCV000115118 RCV000120030 RCV000515182 RCV001083312 RCV001153053

NM_000038.6(APC):c.1604C>T (p.Ser535Phe)

SNV
Germline

Chr5:112827984

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
APC-related disorder
Desmoid disease, hereditary
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA005357

rs_75870842

16 SubmittersRCV000144567 RCV000159535 RCV000034404 RCV000035065 RCV003904891 RCV005357248

NM_000038.6(APC):c.4372C>T (p.Pro1458Ser)

SNV
Germline

Chr5:112839966

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Neoplasm of stomach
Desmoid disease, hereditary
Carcinoma of colon
Hepatocellular carcinoma
Hereditary cancer
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA009490

rs_143796828

12 SubmittersRCV000034415 RCV000196865 RCV000159555 RCV000515179 RCV003492325 RCV003996164

NM_000038.6(APC):c.5392A>G (p.Asn1798Asp)

SNV
Germline

Chr5:112840986

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Desmoid disease, hereditary
APC-related disorder

Criteria Provided
Conflicting Classifications

CA010373

rs_200794097

14 SubmittersRCV000035077 RCV000034417 RCV000167996 RCV000491791 RCV005364907 RCV004739317

NM_000038.6(APC):c.7717A>G (p.Ile2573Val)

SNV
Germline

Chr5:112843311

Conflicting classifications of pathogenicity

Condition: not provided
Familial adenomatous polyposis 1
not specified
Colorectal adenoma
Hereditary cancer-predisposing syndrome
Desmoid disease, hereditary
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA013990

rs_145444830

17 SubmittersRCV000034421 RCV000122803 RCV000236063 RCV000148373 RCV000163980 RCV005357250

NM_000038.6(APC):c.694C>T (p.Arg232Ter)

SNV
Germline/somatic

Chr5:112792494

Pathogenic

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Familial multiple polyposis syndrome
Condition: not provided
Familial adenomatous polyposis 1
Neoplasm of stomach
Desmoid disease, hereditary
Carcinoma of colon
Hepatocellular carcinoma
Neoplasm

Reviewed By Expert Panel

CA012693

rs_397515734

18 SubmittersRCV000035081 RCV000491782 RCV000844606 RCV000486263 RCV000763537 RCV004668751

NM_000038.6(APC):c.5363G>A (p.Arg1788His)

SNV
Germline

Chr5:112840957

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1
APC-Associated Polyposis Disorders
Condition: not provided
Desmoid disease, hereditary
Carcinoma of colon
Hepatocellular carcinoma
Familial adenomatous polyposis 1
Neoplasm of stomach

Criteria Provided
Conflicting Classifications

CA010335

rs_201472075

12 SubmittersRCV000159559 RCV000211922 RCV000232274 RCV000393057 RCV000590729 RCV000764566

NM_000038.6(APC):c.2413C>T (p.Arg805Ter)

SNV
Germline/somatic

Chr5:112838007

Pathogenic

Hereditary cancer-predisposing syndrome
Familial multiple polyposis syndrome
Condition: not provided
Desmoid disease, hereditary
APC-related attenuated familial adenomatous polyposis
Gastric adenocarcinoma and proximal polyposis of the stomach
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
APC-related disorder
Familial adenomatous polyposis 1
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA007452

rs_587779783

14 SubmittersRCV000115073 RCV000501097 RCV001270020 RCV001292808 RCV001824606 RCV003997211 RCV003935094 RCV004562255 RCV004668779

NM_000038.6(APC):c.5528C>T (p.Pro1843Leu)

SNV
Germline

Chr5:112841122

Conflicting classifications of pathogenicity

not specified
Familial multiple polyposis syndrome
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Desmoid disease, hereditary
Diffuse midline glioma, H3 K27-altered
6 conditions

Criteria Provided
Conflicting Classifications

CA010490

rs_368080169

20 SubmittersRCV000115104 RCV000202997 RCV000148372 RCV000572635 RCV000679068 RCV005359059 RCV003315229 RCV005042204

NM_000038.6(APC):c.646C>T (p.Arg216Ter)

SNV
Germline/somatic

Chr5:112792446

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Hepatocellular carcinoma
Neoplasm of stomach
Familial adenomatous polyposis 1
Carcinoma of colon
Desmoid disease, hereditary
Familial multiple polyposis syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
6 conditions
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA012198

rs_62619935

16 SubmittersRCV000115111 RCV000223521 RCV000763536 RCV002281931 RCV003460798 RCV003997226 RCV004796021 RCV004668780

NM_000038.6(APC):c.8261G>A (p.Ser2754Asn)

SNV
Germline

Chr5:112843855

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
not specified
APC-related disorder
Desmoid disease, hereditary
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA014491

rs_369721828

15 SubmittersRCV000115128 RCV000197863 RCV000590250 RCV000722129 RCV003952546 RCV005359061 RCV003997232

NM_000038.6(APC):c.4237A>G (p.Met1413Val)

SNV
Germline

Chr5:112839831

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Colorectal adenoma
Condition: not provided
APC-related disorder
Desmoid disease, hereditary

Criteria Provided
Conflicting Classifications

CA009368

rs_141519952

17 SubmittersRCV000120015 RCV000122777 RCV000131786 RCV000148358 RCV000589855 RCV003915187 RCV005359126

NM_000038.6(APC):c.3875C>T (p.Thr1292Met)

SNV
Germline

Chr5:112839469

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
Desmoid disease, hereditary
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA008722

rs_371113837

14 SubmittersRCV000120026 RCV000129039 RCV000198586 RCV000657042 RCV005359127

NM_000038.6(APC):c.7490C>T (p.Ser2497Leu)

SNV
Germline

Chr5:112843084

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
APC-Associated Polyposis Disorders
Condition: not provided
Familial adenomatous polyposis 1
Desmoid disease, hereditary

Criteria Provided
Conflicting Classifications

CA013717

rs_141010008

20 SubmittersRCV000120032 RCV000131590 RCV001153055 RCV000587624 RCV004562271 RCV005359128

NM_000038.6(APC):c.3007G>A (p.Asp1003Asn)

SNV
Germline

Chr5:112838601

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA007992

rs_564314108

10 SubmittersRCV000120035 RCV000568678 RCV001775597 RCV004019666 RCV005359129 RCV003997331

NM_000038.6(APC):c.8332G>T (p.Ala2778Ser)

SNV
Germline

Chr5:112843926

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Neoplasm of the liver
Hepatocellular carcinoma
Intrahepatic cholangiocarcinoma
Condition: not provided
APC-related disorder
Familial adenomatous polyposis 1
Desmoid disease, hereditary

Criteria Provided
Conflicting Classifications

CA014561

rs_587778046

12 SubmittersRCV000120047 RCV000163521 RCV000199434 RCV000677785 RCV000677786 RCV000677787 RCV001704030 RCV003952585 RCV005359131

NM_000038.6(APC):c.385G>C (p.Glu129Gln)

SNV
Germline

Chr5:112767353

Conflicting classifications of pathogenicity

not specified
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Desmoid disease, hereditary
APC-related disorder

Criteria Provided
Conflicting Classifications

CA008713

rs_376628500

15 SubmittersRCV000120050 RCV000196705 RCV000216893 RCV000589545 RCV005359132 RCV004739410

NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)

SNV
Germline

Chr5:112841395

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
not specified
Colorectal cancer, susceptibility to
Familial multiple polyposis syndrome
Condition: not provided
APC-Associated Polyposis Disorders
Carcinoma of colon
Desmoid disease, hereditary
Hepatocellular carcinoma
Familial adenomatous polyposis 1
Neoplasm of stomach
APC-related disorder
Hereditary cancer
Classic or attenuated familial adenomatous polyposis
6 conditions

Criteria Provided
Conflicting Classifications

CA010706

rs_587780600

19 SubmittersRCV000122787 RCV000159562 RCV000211923 RCV000210078 RCV000210900 RCV000656747 RCV001155575 RCV000764567 RCV003398739 RCV005235024 RCV005359149 RCV005031631

NM_000038.6(APC):c.8266A>G (p.Ile2756Val)

SNV
Germline

Chr5:112843860

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Colorectal adenoma
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
APC-Associated Polyposis Disorders
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA014501

rs_146115809

17 SubmittersRCV000122809 RCV000148374 RCV000587542 RCV000493019 RCV001549270 RCV001157355 RCV005365010 RCV003153406

NM_000038.6(APC):c.637C>T (p.Arg213Ter)

SNV
Germline/somatic

Chr5:112780895

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Neoplasm of stomach
Desmoid disease, hereditary
Carcinoma of colon
Hepatocellular carcinoma
Familial adenomatous polyposis 1
Familial multiple polyposis syndrome
Carcinoma of colon
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA011131

rs_587781392

11 SubmittersRCV000129233 RCV000202175 RCV000763535 RCV002512529 RCV000825611 RCV001353439 RCV004668789

NM_000038.6(APC):c.854A>G (p.Asp285Gly)

SNV
Germline

Chr5:112815514

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
6 conditions
Classic or attenuated familial adenomatous polyposis
Desmoid disease, hereditary
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA015607

rs_201093383

10 SubmittersRCV000129720 RCV000211896 RCV000229223 RCV002478388 RCV003997520 RCV005359212

NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)

SNV
Germline

Chr5:112843983

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
APC-Associated Polyposis Disorders
Condition: not provided
Hepatocellular carcinoma
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Neoplasm of stomach
Carcinoma of colon
not specified
Desmoid disease, hereditary

Criteria Provided
Conflicting Classifications

CA015444

rs_147287751

17 SubmittersRCV000129949 RCV000198030 RCV000283075 RCV000656753 RCV000515282 RCV002267871 RCV005359221

NM_000038.6(APC):c.6639G>A (p.Met2213Ile)

SNV
Germline

Chr5:112842233

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
Hepatocellular carcinoma
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Neoplasm of stomach
Carcinoma of colon
APC-Associated Polyposis Disorders
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA012330

rs_35540155

12 SubmittersRCV000130211 RCV000409211 RCV000484737 RCV000765788 RCV001157265 RCV002222403 RCV005359230

NM_000038.6(APC):c.8276G>A (p.Arg2759His)

SNV
Germline

Chr5:112843870

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Neoplasm of stomach
Desmoid disease, hereditary
Carcinoma of colon
Hepatocellular carcinoma
APC-related disorder
Familial adenomatous polyposis 1
Condition: not provided
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA014525

rs_538289470

10 SubmittersRCV000130304 RCV000765791 RCV003430706 RCV003764867 RCV001549810 RCV002469020 RCV003998055

NM_000038.6(APC):c.6679G>T (p.Gly2227Cys)

SNV
Germline

Chr5:112842273

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Familial adenomatous polyposis 1
Colorectal cancer, susceptibility to
Condition: not provided
APC-related disorder
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1
Desmoid disease, hereditary

Criteria Provided
Conflicting Classifications

CA012371

rs_367905430

15 SubmittersRCV000131588 RCV000211929 RCV000234415 RCV000210106 RCV000590651 RCV004739454 RCV003998109 RCV005359274

NM_000038.6(APC):c.847C>T (p.Arg283Ter)

SNV
Germline/somatic

Chr5:112815507

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial multiple polyposis syndrome
Desmoid disease, hereditary
Hepatocellular carcinoma
Familial adenomatous polyposis 1
Neoplasm of stomach
Carcinoma of colon
6 conditions
Carcinoma of colon
Familial adenomatous polyposis 1
Colorectal cancer

Reviewed By Expert Panel

CA015543

rs_786201856

15 SubmittersRCV000202113 RCV000164351 RCV000501350 RCV000763538 RCV005031679 RCV001353622 RCV002517615 RCV004813067

NM_000038.6(APC):c.5105G>A (p.Gly1702Glu)

SNV
Germline

Chr5:112840699

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Condition: not provided
Desmoid disease, hereditary
Hepatocellular carcinoma
Familial adenomatous polyposis 1
Neoplasm of stomach
Carcinoma of colon
Classic or attenuated familial adenomatous polyposis
not specified

Criteria Provided
Conflicting Classifications

CA009865

rs_769273526

11 SubmittersRCV000163348 RCV000231340 RCV000758732 RCV000764565 RCV003995246 RCV002267901

NM_000038.6(APC):c.2240C>T (p.Ser747Leu)

SNV
Germline

Chr5:112837834

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
Desmoid disease, hereditary

Criteria Provided
Conflicting Classifications

CA007315

rs_773020689

9 SubmittersRCV000484713 RCV000218100 RCV002291585 RCV003995610 RCV005361047

NM_000038.6(APC):c.1606G>A (p.Glu536Lys)

SNV
Germline

Chr5:112827986

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial adenomatous polyposis 1
Neoplasm of stomach
Hepatocellular carcinoma
Desmoid disease, hereditary
Carcinoma of colon
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA028603

rs_138098808

11 SubmittersRCV000199835 RCV000217491 RCV000235744 RCV000656746 RCV000764561 RCV005235100

NM_000038.6(APC):c.8017A>G (p.Arg2673Gly)

SNV
Germline

Chr5:112843611

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
6 conditions
Familial adenomatous polyposis 1
Desmoid disease, hereditary

Criteria Provided
Conflicting Classifications

CA049665

rs_767286063

9 SubmittersRCV000202229 RCV000572076 RCV000766698 RCV002500621 RCV002515464 RCV005361140

NM_000038.6(APC):c.8462A>G (p.Asp2821Gly)

SNV
Germline

Chr5:112844056

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Desmoid disease, hereditary
Carcinoma of colon
Hepatocellular carcinoma
Familial adenomatous polyposis 1
Neoplasm of stomach
not specified
Classic or attenuated familial adenomatous polyposis
APC-related disorder

Criteria Provided
Conflicting Classifications

CA050869

rs_780049836

11 SubmittersRCV000196318 RCV000478701 RCV000567493 RCV000765792 RCV000779724 RCV003996983 RCV004725054

NM_000038.6(APC):c.1312+3A>G

SNV
Germline

Chr5:112819347

Pathogenic

Condition: not provided
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Carcinoma of colon
Desmoid disease, hereditary
Hepatocellular carcinoma
Familial adenomatous polyposis 1
Neoplasm of stomach
APC-related disorder
Familial multiple polyposis syndrome
Classic or attenuated familial adenomatous polyposis

Reviewed By Expert Panel

CA279764

rs_863225311

17 SubmittersRCV000202161 RCV000204247 RCV000490831 RCV000500343 RCV000763540 RCV003422107 RCV003987449 RCV003997041

NM_000038.6(APC):c.933+1G>A

SNV
Germline

Chr5:112815594

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Hepatocellular carcinoma
Familial adenomatous polyposis 1
Carcinoma of colon
Desmoid disease, hereditary
Neoplasm of stomach
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10578303

rs_876660765

4 SubmittersRCV000217532 RCV000763539 RCV004563220

NM_000038.6(APC):c.1276G>T (p.Ala426Ser)

SNV
Germline

Chr5:112819308

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis
Desmoid disease, hereditary
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA026974

rs_200598389

8 SubmittersRCV000222204 RCV001571736 RCV004020654 RCV003997839 RCV005361270

NM_000038.6(APC):c.1553C>T (p.Thr518Met)

SNV
Germline

Chr5:112827933

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Hepatocellular carcinoma
Carcinoma of colon
Neoplasm of stomach
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Condition: not provided
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA028394

rs_371453363

11 SubmittersRCV000221284 RCV000461223 RCV000764560 RCV001284232 RCV004689682 RCV004804894

NM_000038.6(APC):c.2474A>G (p.Tyr825Cys)

SNV
Germline

Chr5:112838068

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Carcinoma of colon
Familial adenomatous polyposis 1
Neoplasm of stomach
Hepatocellular carcinoma
Desmoid disease, hereditary
not specified
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA032224

rs_186641437

9 SubmittersRCV000220641 RCV000485918 RCV000764563 RCV001174911 RCV002515684 RCV004804912

NM_000038.6(APC):c.4963A>G (p.Thr1655Ala)

SNV
Germline

Chr5:112840557

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Classic or attenuated familial adenomatous polyposis
6 conditions
Desmoid disease, hereditary
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA10582320

rs_759441332

14 SubmittersRCV000233240 RCV000567766 RCV000590193 RCV003998672 RCV002487042 RCV005365172

NM_000038.6(APC):c.5282A>C (p.Asn1761Thr)

SNV
Germline

Chr5:112840876

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
6 conditions
Desmoid disease, hereditary
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA10582324

rs_752038930

13 SubmittersRCV000230741 RCV000586532 RCV000573026 RCV003998675 RCV002487043 RCV005365173

NM_000038.6(APC):c.934-14C>T

SNV
Germline

Chr5:112818952

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome
APC-Associated Polyposis Disorders
Condition: not provided
Classic or attenuated familial adenomatous polyposis
Desmoid disease, hereditary

Criteria Provided
Conflicting Classifications

CA051264

rs_778707022

8 SubmittersRCV000410782 RCV000583876 RCV001151509 RCV001618683 RCV003995912 RCV005355696

NM_000038.6(APC):c.791A>G (p.Gln264Arg)

SNV
Germline

Chr5:112801340

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Desmoid disease, hereditary
Carcinoma of colon
Hepatocellular carcinoma
Familial adenomatous polyposis 1
Neoplasm of stomach
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA049479

rs_369345931

8 SubmittersRCV000483155 RCV000575683 RCV000764559 RCV002525602 RCV004001922

NM_001127511.3(APC):c.-204A>G

SNV
Germline

Chr5:112707514

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hepatocellular carcinoma
Neoplasm of stomach
Desmoid disease, hereditary
Carcinoma of colon
APC-related disorder
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA124924789

rs_554351451

3 SubmittersRCV000764556 RCV003935480 RCV004568906

NM_000038.6(APC):c.1762G>A (p.Val588Ile)

SNV
Germline

Chr5:112834969

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Desmoid disease, hereditary
Neoplasm of stomach
Familial adenomatous polyposis 1
Carcinoma of colon
Hepatocellular carcinoma
Hereditary cancer-predisposing syndrome
Carcinoma of colon
Condition: not provided
Ovarian cancer
not specified
APC-related disorder
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA029508

rs_372416031

13 SubmittersRCV000554226 RCV000764562 RCV000561260 RCV001356454 RCV005000185 RCV003153714 RCV003493637 RCV003403312 RCV003999361

NM_000038.6(APC):c.768T>G (p.Asp256Glu)

SNV
Germline

Chr5:112801317

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Desmoid disease, hereditary
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16023012

rs_764268036

8 SubmittersRCV001026715 RCV000985321 RCV005357598 RCV003999432 RCV004569022

NM_001127511.3(APC):c.-128G>C

SNV
Germline

Chr5:112707590

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Hepatocellular carcinoma
Neoplasm of stomach
Desmoid disease, hereditary
Carcinoma of colon
APC-related disorder
Familial adenomatous polyposis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA124924970

rs_543098847

4 SubmittersRCV000764557 RCV003960352 RCV004561543 RCV004584747

NM_000038.6(APC):c.6736G>A (p.Val2246Ile)

SNV
Germline

Chr5:112842330

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Familial adenomatous polyposis 1
Neoplasm of stomach
Hepatocellular carcinoma
Desmoid disease, hereditary
Carcinoma of colon
Condition: not provided
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA16036051

rs_1055180096

9 SubmittersRCV000569003 RCV000646326 RCV000765789 RCV001775901 RCV004001183

NM_000038.6(APC):c.4670T>A (p.Ile1557Asn)

SNV
Germline

Chr5:112840264

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Colorectal cancer
Gastric adenocarcinoma and proximal polyposis of the stomach
Desmoid disease, hereditary
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA16031568

rs_769121879

4 SubmittersRCV000579761 RCV004001227 RCV004730984

NM_000038.6(APC):c.3404A>G (p.Tyr1135Cys)

SNV
Germline

Chr5:112838998

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Ovarian cancer
Classic or attenuated familial adenomatous polyposis
Familial multiple polyposis syndrome

Criteria Provided
Conflicting Classifications

CA035239

rs_754916822

7 SubmittersRCV000581738 RCV003767285 RCV005357730 RCV003153753 RCV004001289 RCV005240229

NM_000038.6(APC):c.3867T>A (p.Cys1289Ter)

SNV
Germline

Chr5:112839461

Pathogenic

Condition: not provided
Carcinoma of colon
Hepatocellular carcinoma
Familial adenomatous polyposis 1
Neoplasm of stomach
Desmoid disease, hereditary
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16029816

rs_1554085355

5 SubmittersRCV000657604 RCV000763543 RCV002360677 RCV004563567

NM_000038.6(APC):c.2719G>C (p.Gly907Arg)

SNV
Germline

Chr5:112838313

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Desmoid disease, hereditary
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA033134

rs_771458366

5 SubmittersRCV001016394 RCV003141857 RCV004002836 RCV004562803

NM_000038.6(APC):c.6230C>T (p.Thr2077Ile)

SNV
Germline

Chr5:112841824

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1
Familial adenomatous polyposis 1
Desmoid disease, hereditary

Criteria Provided
Conflicting Classifications

CA044126

rs_755022193

6 SubmittersRCV000985313 RCV001025030 RCV004004405 RCV004569825 RCV005367650

NM_000038.6(APC):c.6744A>G (p.Lys2248=)

SNV
Germline

Chr5:112842338

Conflicting classifications of pathogenicity

Familial adenomatous polyposis 1
Gastric cancer
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA446209980

rs_1266979535