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 Condition: not provided Familial adenomatous polyposis 1 Neoplasm of stomach Desmoid disease, hereditary Carcinoma of colon Hepatocellular carcinoma Familial multiple polyposis syndrome Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA005424	rs_137854573	13 SubmittersRCV000000845 RCV000129303 RCV000210172 RCV000482405 RCV000763541 RCV000844608 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 Familial adenomatous polyposis 1 Neoplasm of stomach Desmoid disease, hereditary Carcinoma of colon Hepatocellular carcinoma Familial multiple polyposis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA007805	rs_137854575	18 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.607C>G (p.Gln203Glu)	SNV Germline	Chr5:112780865	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Familial adenomatous polyposis 1 Desmoid disease, hereditary Familial multiple polyposis syndrome Familial adenomatous polyposis 1 APC-Associated Polyposis Disorders Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA010884	rs_141576417	23 SubmittersRCV000034394 RCV000115109 RCV000120051 RCV000709878 RCV000757929 RCV000987552 RCV001156934 RCV004803098
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 adenomatous polyposis 1 Desmoid disease, hereditary Neoplasm of stomach Carcinoma of colon Hepatocellular carcinoma Familial multiple polyposis syndrome Familial adenomatous polyposis 1 APC-Associated Polyposis Disorders Carcinoma of colon APC-related disorder	Criteria Provided Conflicting Classifications	CA012449	rs_201375478	18 SubmittersRCV000034395 RCV000115114 RCV000211930 RCV000515374 RCV000664301 RCV000987580 RCV001151801 RCV001353961 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 Familial adenomatous polyposis 1 Desmoid disease, hereditary Neoplasm of stomach Carcinoma of colon Hepatocellular carcinoma 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.4372C>T (p.Pro1458Ser)	SNV Germline	Chr5:112839966	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Familial adenomatous polyposis 1 Desmoid disease, hereditary Neoplasm of stomach Carcinoma of colon Hepatocellular carcinoma Hereditary cancer Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA009490	rs_143796828	11 SubmittersRCV000034415 RCV000159555 RCV000196865 RCV000515179 RCV003492325 RCV003996164
NM_000038.6(APC):c.694C>T (p.Arg232Ter)	SNV Germline/somatic	Chr5:112792494	Pathogenic	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided Familial adenomatous polyposis 1 Desmoid disease, hereditary Neoplasm of stomach Carcinoma of colon Hepatocellular carcinoma Familial multiple polyposis syndrome Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA012693	rs_397515734	17 SubmittersRCV000035081 RCV000491782 RCV000486263 RCV000763537 RCV000844606 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	11 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 Desmoid disease, hereditary Condition: not provided Familial adenomatous polyposis 1 Gastric adenocarcinoma and proximal polyposis of the stomach APC-related attenuated familial adenomatous polyposis APC-related disorder Neoplasm Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA007452	rs_587779783	14 SubmittersRCV000115073 RCV000501097 RCV001292808 RCV001270020 RCV001824606 RCV003935094 RCV004668779 RCV003997211 RCV004562255
NM_000038.6(APC):c.646C>T (p.Arg216Ter)	SNV Germline/somatic	Chr5:112792446	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Desmoid disease, hereditary Familial adenomatous polyposis 1 Neoplasm of stomach Carcinoma of colon Hepatocellular carcinoma Familial multiple polyposis syndrome Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis Neoplasm 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA012198	rs_62619935	15 SubmittersRCV000115111 RCV000223521 RCV000763536 RCV002281931 RCV003460798 RCV003997226 RCV004668780 RCV004796021
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 Familial adenomatous polyposis 1 Hepatocellular carcinoma Carcinoma of colon Desmoid disease, hereditary Neoplasm of stomach APC-Associated Polyposis Disorders APC-related disorder	Criteria Provided Conflicting Classifications	CA010706	rs_587780600	17 SubmittersRCV000122787 RCV000159562 RCV000211923 RCV000210078 RCV000210900 RCV000656747 RCV000764567 RCV001155575 RCV003398739
NM_000038.6(APC):c.637C>T (p.Arg213Ter)	SNV Germline/somatic	Chr5:112780895	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial multiple polyposis syndrome Familial adenomatous polyposis 1 Hepatocellular carcinoma Carcinoma of colon Desmoid disease, hereditary Neoplasm of stomach Carcinoma of colon Familial adenomatous polyposis 1 Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA011131	rs_587781392	11 SubmittersRCV000129233 RCV000202175 RCV000825611 RCV000763535 RCV001353439 RCV002512529 RCV004668789
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 not specified Neoplasm of stomach Carcinoma of colon Desmoid disease, hereditary Hepatocellular carcinoma Familial adenomatous polyposis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA015444	rs_147287751	16 SubmittersRCV000129949 RCV000198030 RCV000283075 RCV002267871 RCV000515282 RCV000656753
NM_000038.6(APC):c.6639G>A (p.Met2213Ile)	SNV Germline	Chr5:112842233	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neoplasm of stomach Carcinoma of colon Desmoid disease, hereditary Hepatocellular carcinoma Familial adenomatous polyposis 1 APC-Associated Polyposis Disorders not specified Familial adenomatous polyposis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA012330	rs_35540155	11 SubmittersRCV000130211 RCV000765788 RCV001157265 RCV002222403 RCV000409211 RCV000484737
NM_000038.6(APC):c.8276G>A (p.Arg2759His)	SNV Germline	Chr5:112843870	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neoplasm of stomach Carcinoma of colon Desmoid disease, hereditary Hepatocellular carcinoma Familial adenomatous polyposis 1 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.70C>T (p.Arg24Ter)	SNV Germline	Chr5:112754960	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided not specified Hepatocellular carcinoma Desmoid disease, hereditary Carcinoma of colon Familial adenomatous polyposis 1 Neoplasm of stomach Familial multiple polyposis syndrome Carcinoma of colon Gastric cancer Attenuated familial adenomatous polyposis Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA012843	rs_145945630	17 SubmittersRCV000164002 RCV000227124 RCV000482864 RCV000508297 RCV000763534 RCV000844605 RCV001353710 RCV003162685 RCV004689634 RCV003995307
NM_000038.6(APC):c.847C>T (p.Arg283Ter)	SNV Germline/somatic	Chr5:112815507	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial multiple polyposis syndrome Hepatocellular carcinoma Desmoid disease, hereditary Carcinoma of colon Familial adenomatous polyposis 1 Neoplasm of stomach Carcinoma of colon Familial adenomatous polyposis 1 Colorectal cancer	Reviewed By Expert Panel	CA015543	rs_786201856	14 SubmittersRCV000164351 RCV000202113 RCV000501350 RCV000763538 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 Hepatocellular carcinoma Desmoid disease, hereditary Carcinoma of colon Familial adenomatous polyposis 1 Neoplasm of stomach not specified Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA009865	rs_769273526	11 SubmittersRCV000163348 RCV000231340 RCV000758732 RCV000764565 RCV002267901 RCV003995246
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 Desmoid disease, hereditary Carcinoma of colon Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach	Criteria Provided Conflicting Classifications	CA028603	rs_138098808	11 SubmittersRCV000199835 RCV000217491 RCV000235744 RCV000656746 RCV000764561
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 not specified Desmoid disease, hereditary Carcinoma of colon Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach Classic or attenuated familial adenomatous polyposis APC-related disorder	Criteria Provided Conflicting Classifications	CA050869	rs_780049836	11 SubmittersRCV000196318 RCV000478701 RCV000567493 RCV000779724 RCV000765792 RCV003996983 RCV004725054
NM_000038.6(APC):c.1312+3A>G	SNV Germline	Chr5:112819347	Pathogenic/Likely pathogenic	Condition: not provided Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Carcinoma of colon Desmoid disease, hereditary Familial adenomatous polyposis 1 Carcinoma of colon Hepatocellular carcinoma Neoplasm of stomach APC-related disorder Familial multiple polyposis syndrome Classic or attenuated familial adenomatous polyposis	Criteria Provided Multiple Submitters No Conflicts	CA279764	rs_863225311	15 SubmittersRCV000202161 RCV000204247 RCV000490831 RCV000500343 RCV000763540 RCV003422107 RCV003987449 RCV003997041
NM_000038.6(APC):c.933+1G>A	SNV Germline	Chr5:112815594	Pathogenic/Likely pathogenic	Carcinoma of colon Hepatocellular carcinoma Desmoid disease, hereditary Familial adenomatous polyposis 1 Neoplasm of stomach Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA10578303	rs_876660765	4 SubmittersRCV000763539 RCV000217532 RCV004563220
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 Desmoid disease, hereditary Carcinoma of colon Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach Condition: not provided not specified Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA028394	rs_371453363	10 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 Desmoid disease, hereditary Carcinoma of colon Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach not specified Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA032224	rs_186641437	8 SubmittersRCV000220641 RCV000485918 RCV000764563 RCV001174911 RCV002515684 RCV004804912
NM_000038.6(APC):c.791A>G (p.Gln264Arg)	SNV Germline	Chr5:112801340	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Hepatocellular carcinoma Desmoid disease, hereditary Carcinoma of colon 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 Neoplasm of stomach Hepatocellular carcinoma Carcinoma of colon Desmoid disease, hereditary 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 Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Carcinoma of colon Desmoid disease, hereditary Carcinoma of colon Ovarian cancer not specified Classic or attenuated familial adenomatous polyposis APC-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA029508	rs_372416031	12 SubmittersRCV000554226 RCV000561260 RCV000764562 RCV001356454 RCV003153714 RCV003493637 RCV003999361 RCV003403312 RCV005000185
NM_001127511.3(APC):c.-128G>C	SNV Germline	Chr5:112707590	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Carcinoma of colon Desmoid disease, hereditary 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 Carcinoma of colon Familial adenomatous polyposis 1 Neoplasm of stomach Desmoid disease, hereditary Hepatocellular carcinoma Condition: not provided Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA16036051	rs_1055180096	8 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 Desmoid disease, hereditary Familial adenomatous polyposis 1 Colorectal cancer Gastric adenocarcinoma and proximal polyposis of the stomach	Criteria Provided Conflicting Classifications	CA16031568	rs_769121879	4 SubmittersRCV000579761 RCV004001227 RCV004730984
NM_000038.6(APC):c.3867T>A (p.Cys1289Ter)	SNV Germline	Chr5:112839461	Pathogenic	Condition: not provided Desmoid disease, hereditary Neoplasm of stomach Carcinoma of colon Hepatocellular carcinoma Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts		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 Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications		rs_771458366	5 SubmittersRCV001016394 RCV003141857 RCV004562803 RCV004002836

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

Criteria Provided
Multiple Submitters
No Conflicts

CA005424

rs_137854573

13 SubmittersRCV000000845 RCV000129303 RCV000210172 RCV000482405 RCV000763541 RCV000844608 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
Familial adenomatous polyposis 1
Neoplasm of stomach
Desmoid disease, hereditary
Carcinoma of colon
Hepatocellular carcinoma
Familial multiple polyposis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA007805

rs_137854575

18 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.607C>G (p.Gln203Glu)

SNV
Germline

Chr5:112780865

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010884

rs_141576417

23 SubmittersRCV000034394 RCV000115109 RCV000120051 RCV000709878 RCV000757929 RCV000987552 RCV001156934 RCV004803098

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 adenomatous polyposis 1
Desmoid disease, hereditary
Neoplasm of stomach
Carcinoma of colon
Hepatocellular carcinoma
Familial multiple polyposis syndrome
Familial adenomatous polyposis 1
APC-Associated Polyposis Disorders
Carcinoma of colon
APC-related disorder

Criteria Provided
Conflicting Classifications

CA012449

rs_201375478

18 SubmittersRCV000034395 RCV000115114 RCV000211930 RCV000515374 RCV000664301 RCV000987580 RCV001151801 RCV001353961 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
Familial adenomatous polyposis 1
Desmoid disease, hereditary
Neoplasm of stomach
Carcinoma of colon
Hepatocellular carcinoma
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.4372C>T (p.Pro1458Ser)

SNV
Germline

Chr5:112839966

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA009490

rs_143796828

11 SubmittersRCV000034415 RCV000159555 RCV000196865 RCV000515179 RCV003492325 RCV003996164

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

SNV
Germline/somatic

Chr5:112792494

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA012693

rs_397515734

17 SubmittersRCV000035081 RCV000491782 RCV000486263 RCV000763537 RCV000844606 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

11 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
Desmoid disease, hereditary
Condition: not provided
Familial adenomatous polyposis 1
Gastric adenocarcinoma and proximal polyposis of the stomach
APC-related attenuated familial adenomatous polyposis
APC-related disorder
Neoplasm
Classic or attenuated familial adenomatous polyposis
Familial adenomatous polyposis 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007452

rs_587779783

14 SubmittersRCV000115073 RCV000501097 RCV001292808 RCV001270020 RCV001824606 RCV003935094 RCV004668779 RCV003997211 RCV004562255

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

SNV
Germline/somatic

Chr5:112792446

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA012198

rs_62619935

15 SubmittersRCV000115111 RCV000223521 RCV000763536 RCV002281931 RCV003460798 RCV003997226 RCV004668780 RCV004796021

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

Criteria Provided
Conflicting Classifications

CA010706

rs_587780600

17 SubmittersRCV000122787 RCV000159562 RCV000211923 RCV000210078 RCV000210900 RCV000656747 RCV000764567 RCV001155575 RCV003398739

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

SNV
Germline/somatic

Chr5:112780895

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA011131

rs_587781392

11 SubmittersRCV000129233 RCV000202175 RCV000825611 RCV000763535 RCV001353439 RCV002512529 RCV004668789

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

Criteria Provided
Conflicting Classifications

CA015444

rs_147287751

16 SubmittersRCV000129949 RCV000198030 RCV000283075 RCV002267871 RCV000515282 RCV000656753

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

SNV
Germline

Chr5:112842233

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012330

rs_35540155

11 SubmittersRCV000130211 RCV000765788 RCV001157265 RCV002222403 RCV000409211 RCV000484737

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

SNV
Germline

Chr5:112843870

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neoplasm of stomach
Carcinoma of colon
Desmoid disease, hereditary
Hepatocellular carcinoma
Familial adenomatous polyposis 1
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.70C>T (p.Arg24Ter)

SNV
Germline

Chr5:112754960

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012843

rs_145945630

17 SubmittersRCV000164002 RCV000227124 RCV000482864 RCV000508297 RCV000763534 RCV000844605 RCV001353710 RCV003162685 RCV004689634 RCV003995307

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

SNV
Germline/somatic

Chr5:112815507

Pathogenic

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

Reviewed By Expert Panel

CA015543

rs_786201856

14 SubmittersRCV000164351 RCV000202113 RCV000501350 RCV000763538 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
Hepatocellular carcinoma
Desmoid disease, hereditary
Carcinoma of colon
Familial adenomatous polyposis 1
Neoplasm of stomach
not specified
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA009865

rs_769273526

11 SubmittersRCV000163348 RCV000231340 RCV000758732 RCV000764565 RCV002267901 RCV003995246

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
Desmoid disease, hereditary
Carcinoma of colon
Hepatocellular carcinoma
Familial adenomatous polyposis 1
Neoplasm of stomach

Criteria Provided
Conflicting Classifications

CA028603

rs_138098808

11 SubmittersRCV000199835 RCV000217491 RCV000235744 RCV000656746 RCV000764561

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
not specified
Desmoid disease, hereditary
Carcinoma of colon
Hepatocellular carcinoma
Familial adenomatous polyposis 1
Neoplasm of stomach
Classic or attenuated familial adenomatous polyposis
APC-related disorder

Criteria Provided
Conflicting Classifications

CA050869

rs_780049836

11 SubmittersRCV000196318 RCV000478701 RCV000567493 RCV000779724 RCV000765792 RCV003996983 RCV004725054

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

SNV
Germline

Chr5:112819347

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA279764

rs_863225311

15 SubmittersRCV000202161 RCV000204247 RCV000490831 RCV000500343 RCV000763540 RCV003422107 RCV003987449 RCV003997041

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

SNV
Germline

Chr5:112815594

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10578303

rs_876660765

4 SubmittersRCV000763539 RCV000217532 RCV004563220

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

Criteria Provided
Conflicting Classifications

CA028394

rs_371453363

10 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
Desmoid disease, hereditary
Carcinoma of colon
Hepatocellular carcinoma
Familial adenomatous polyposis 1
Neoplasm of stomach
not specified
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA032224

rs_186641437

8 SubmittersRCV000220641 RCV000485918 RCV000764563 RCV001174911 RCV002515684 RCV004804912

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

SNV
Germline

Chr5:112801340

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA029508

rs_372416031

12 SubmittersRCV000554226 RCV000561260 RCV000764562 RCV001356454 RCV003153714 RCV003493637 RCV003999361 RCV003403312 RCV005000185

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

SNV
Germline

Chr5:112707590

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16036051

rs_1055180096

8 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
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Colorectal cancer
Gastric adenocarcinoma and proximal polyposis of the stomach

Criteria Provided
Conflicting Classifications

CA16031568

rs_769121879

4 SubmittersRCV000579761 RCV004001227 RCV004730984

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

SNV
Germline

Chr5:112839461

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

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
Familial adenomatous polyposis 1
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

rs_771458366

5 SubmittersRCV001016394 RCV003141857 RCV004562803 RCV004002836