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 Neoplasm of stomach Familial adenomatous polyposis 1 Desmoid disease, hereditary Hepatocellular carcinoma Carcinoma of colon Familial multiple polyposis syndrome Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA005424	rs_137854573	12 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 Neoplasm of stomach Familial adenomatous polyposis 1 Desmoid disease, hereditary Hepatocellular carcinoma Carcinoma of colon 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	Pilomatrixoma Prostate adenocarcinoma Pancreatic adenocarcinoma Malignant neoplasm of body of uterus Neoplasm of the large intestine Lung adenocarcinoma Hepatocellular carcinoma Adrenal cortex carcinoma Malignant melanoma of skin Desmoid disease, hereditary	Criteria Provided Single Submitter	CA127281	rs_121913413	3 SubmittersRCV000019152 RCV000422057 RCV000427656 RCV000426659 RCV000432291 RCV000436836 RCV000442963 RCV000442251 RCV000443038 RCV004562216
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 Familial adenomatous polyposis 1 Desmoid disease, hereditary Familial multiple polyposis syndrome Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA010884	rs_141576417	22 SubmittersRCV000034394 RCV000115109 RCV000120051 RCV001156934 RCV000709878 RCV000757929 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 Carcinoma of colon Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Desmoid disease, hereditary Familial adenomatous polyposis 1 Carcinoma of colon APC-Associated Polyposis Disorders APC-related disorder	Criteria Provided Conflicting Classifications	CA012449	rs_201375478	18 SubmittersRCV000034395 RCV000115114 RCV000211930 RCV000664301 RCV000515374 RCV000987580 RCV001353961 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 Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Desmoid disease, hereditary Familial adenomatous polyposis 1 APC-Associated Polyposis Disorders	Criteria Provided Conflicting Classifications	CA012759	rs_200756935	16 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 Carcinoma of colon Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Desmoid disease, hereditary Hereditary cancer Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA009490	rs_143796828	10 SubmittersRCV000034415 RCV000159555 RCV000196865 RCV000515179 RCV003492325 RCV003996164
NM_000038.6(APC):c.694C>T (p.Arg232Ter)	SNV Germline	Chr5:112792494	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 Hereditary cancer-predisposing syndrome Condition: not provided Familial multiple polyposis syndrome Carcinoma of colon Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Desmoid disease, hereditary	Criteria Provided Conflicting Classifications	CA012693	rs_397515734	16 SubmittersRCV000035081 RCV000491782 RCV000486263 RCV000844606 RCV000763537
NM_000038.6(APC):c.5363G>A (p.Arg1788His)	SNV Germline	Chr5:112840957	Conflicting classifications of pathogenicity	not specified APC-Associated Polyposis Disorders Condition: not provided Familial adenomatous polyposis 1 Carcinoma of colon Neoplasm of stomach Desmoid disease, hereditary Hepatocellular carcinoma Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA010335	rs_201472075	11 SubmittersRCV000211922 RCV000393057 RCV000590729 RCV000764566 RCV000159559 RCV000232274
NM_000038.6(APC):c.2413C>T (p.Arg805Ter)	SNV Germline	Chr5:112838007	Pathogenic	Hereditary cancer-predisposing syndrome Familial multiple polyposis syndrome Desmoid disease, hereditary Condition: not provided Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1 Gastric adenocarcinoma and proximal polyposis of the stomach APC-related attenuated familial adenomatous polyposis Familial adenomatous polyposis 1 APC-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA007452	rs_587779783	12 SubmittersRCV000115073 RCV000501097 RCV001292808 RCV001270020 RCV003997211 RCV001824606 RCV004562255 RCV003935094
NM_000038.6(APC):c.646C>T (p.Arg216Ter)	SNV Germline	Chr5:112792446	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Carcinoma of colon Desmoid disease, hereditary Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Familial multiple polyposis syndrome Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Multiple Submitters No Conflicts	CA012198	rs_62619935	11 SubmittersRCV000115111 RCV000223521 RCV000763536 RCV002281931 RCV003460798 RCV003997226
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)	SNV Germline	Chr5:112841395	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 1 not specified Colorectal cancer, susceptibility to Familial multiple polyposis syndrome Hereditary cancer-predisposing syndrome Carcinoma of colon Desmoid disease, hereditary Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma APC-Associated Polyposis Disorders Condition: not provided APC-related disorder	Criteria Provided Conflicting Classifications	CA010706	rs_587780600	16 SubmittersRCV000122787 RCV000211923 RCV000210078 RCV000210900 RCV000159562 RCV000764567 RCV001155575 RCV000656747 RCV003398739
NM_000038.6(APC):c.637C>T (p.Arg213Ter)	SNV Germline	Chr5:112780895	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Carcinoma of colon Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach Desmoid disease, hereditary Carcinoma of colon Familial multiple polyposis syndrome Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA011131	rs_587781392	9 SubmittersRCV000129233 RCV000202175 RCV000763535 RCV001353439 RCV000825611 RCV002512529
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 Carcinoma of colon Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach Desmoid disease, hereditary Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA015444	rs_147287751	16 SubmittersRCV000129949 RCV000198030 RCV000283075 RCV000515282 RCV000656753 RCV002267871
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 Carcinoma of colon Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach Desmoid disease, hereditary APC-Associated Polyposis Disorders not specified	Criteria Provided Conflicting Classifications	CA012330	rs_35540155	11 SubmittersRCV000130211 RCV000409211 RCV000484737 RCV000765788 RCV001157265 RCV002222403
NM_000038.6(APC):c.8276G>A (p.Arg2759His)	SNV Germline	Chr5:112843870	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Carcinoma of colon Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach Desmoid disease, hereditary Condition: not provided not specified APC-related disorder Familial adenomatous polyposis 1 Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA014525	rs_538289470	9 SubmittersRCV000130304 RCV000765791 RCV001549810 RCV002469020 RCV003430706 RCV003764867 RCV003998055
NM_000038.6(APC):c.70C>T (p.Arg24Ter)	SNV Germline	Chr5:112754960	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Condition: not provided not specified Carcinoma of colon Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Desmoid disease, hereditary Familial multiple polyposis syndrome Carcinoma of colon Gastric cancer Classic or attenuated familial adenomatous polyposis	Criteria Provided Multiple Submitters No Conflicts	CA012843	rs_145945630	16 SubmittersRCV000164002 RCV000227124 RCV000482864 RCV000508297 RCV000763534 RCV000844605 RCV001353710 RCV003162685 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 Carcinoma of colon Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Desmoid disease, hereditary Carcinoma of colon Familial adenomatous polyposis 1 Colorectal cancer	Reviewed By Expert Panel	CA015543	rs_786201856	12 SubmittersRCV000164351 RCV000202113 RCV000501350 RCV000763538 RCV001353622 RCV002517615 RCV001789763
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 Carcinoma of colon Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Desmoid disease, hereditary 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 Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma	Criteria Provided Conflicting Classifications	CA028603	rs_138098808	10 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 Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA050869	rs_780049836	10 SubmittersRCV000196318 RCV000478701 RCV000567493 RCV000779724 RCV000765792 RCV003996983
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 Carcinoma of colon Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma 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	Hereditary cancer-predisposing syndrome Carcinoma of colon Desmoid disease, hereditary Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Familial adenomatous polyposis 1	Criteria Provided Multiple Submitters No Conflicts	CA10578303	rs_876660765	4 SubmittersRCV000217532 RCV000763539 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 Carcinoma of colon Desmoid disease, hereditary Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Condition: not provided	Criteria Provided Conflicting Classifications	CA028394	rs_371453363	8 SubmittersRCV000221284 RCV000461223 RCV000764560 RCV001284232
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 Desmoid disease, hereditary Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma not specified Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA032224	rs_186641437	7 SubmittersRCV000220641 RCV000485918 RCV000764563 RCV001174911 RCV002515684
NM_000038.6(APC):c.791A>G (p.Gln264Arg)	SNV Germline	Chr5:112801340	Conflicting classifications of pathogenicity	Condition: not provided Hepatocellular carcinoma Carcinoma of colon Familial adenomatous polyposis 1 Neoplasm of stomach Desmoid disease, hereditary Hereditary cancer-predisposing syndrome Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA049479	rs_369345931	8 SubmittersRCV000483155 RCV000764559 RCV000575683 RCV004001922 RCV002525602
NM_001127511.3(APC):c.-204A>G	SNV Germline	Chr5:112707514	Conflicting classifications of pathogenicity	Carcinoma of colon Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma 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 Carcinoma of colon Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Desmoid disease, hereditary Carcinoma of colon APC-related disorder Ovarian cancer not specified Classic or attenuated familial adenomatous polyposis	Criteria Provided Conflicting Classifications	CA029508	rs_372416031	11 SubmittersRCV000554226 RCV000561260 RCV000764562 RCV001356454 RCV003403312 RCV003153714 RCV003493637 RCV003999361
NM_001127511.3(APC):c.-128G>C	SNV Germline	Chr5:112707590	Conflicting classifications of pathogenicity	Carcinoma of colon Familial adenomatous polyposis 1 Neoplasm of stomach Hepatocellular carcinoma Desmoid disease, hereditary APC-related disorder Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications	CA124924970	rs_543098847	3 SubmittersRCV000764557 RCV003960352 RCV004561543
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 Neoplasm of stomach Desmoid disease, hereditary Familial adenomatous polyposis 1 Hepatocellular carcinoma Carcinoma of colon 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.3867T>A (p.Cys1289Ter)	SNV Germline	Chr5:112839461	Pathogenic	Condition: not provided Desmoid disease, hereditary Carcinoma of colon Hepatocellular carcinoma Familial adenomatous polyposis 1 Neoplasm of stomach 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 Classic or attenuated familial adenomatous polyposis Familial adenomatous polyposis 1	Criteria Provided Conflicting Classifications		rs_771458366	5 SubmittersRCV001016394 RCV003141857 RCV004002836 RCV004562803

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
Neoplasm of stomach
Familial adenomatous polyposis 1
Desmoid disease, hereditary
Hepatocellular carcinoma
Carcinoma of colon
Familial multiple polyposis syndrome
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA005424

rs_137854573

12 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
Neoplasm of stomach
Familial adenomatous polyposis 1
Desmoid disease, hereditary
Hepatocellular carcinoma
Carcinoma of colon
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

Pilomatrixoma
Prostate adenocarcinoma
Pancreatic adenocarcinoma
Malignant neoplasm of body of uterus
Neoplasm of the large intestine
Lung adenocarcinoma
Hepatocellular carcinoma
Adrenal cortex carcinoma
Malignant melanoma of skin
Desmoid disease, hereditary

Criteria Provided
Single Submitter

CA127281

rs_121913413

3 SubmittersRCV000019152 RCV000422057 RCV000427656 RCV000426659 RCV000432291 RCV000436836 RCV000442963 RCV000442251 RCV000443038 RCV004562216

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
Familial adenomatous polyposis 1
Desmoid disease, hereditary
Familial multiple polyposis syndrome
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA010884

rs_141576417

22 SubmittersRCV000034394 RCV000115109 RCV000120051 RCV001156934 RCV000709878 RCV000757929 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
Carcinoma of colon
Familial adenomatous polyposis 1
Neoplasm of stomach
Hepatocellular carcinoma
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Carcinoma of colon
APC-Associated Polyposis Disorders
APC-related disorder

Criteria Provided
Conflicting Classifications

CA012449

rs_201375478

18 SubmittersRCV000034395 RCV000115114 RCV000211930 RCV000664301 RCV000515374 RCV000987580 RCV001353961 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
Familial adenomatous polyposis 1
Neoplasm of stomach
Hepatocellular carcinoma
Desmoid disease, hereditary
Familial adenomatous polyposis 1
APC-Associated Polyposis Disorders

Criteria Provided
Conflicting Classifications

CA012759

rs_200756935

16 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
Carcinoma of colon
Familial adenomatous polyposis 1
Neoplasm of stomach
Hepatocellular carcinoma
Desmoid disease, hereditary
Hereditary cancer
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA009490

rs_143796828

10 SubmittersRCV000034415 RCV000159555 RCV000196865 RCV000515179 RCV003492325 RCV003996164

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

SNV
Germline

Chr5:112792494

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA012693

rs_397515734

16 SubmittersRCV000035081 RCV000491782 RCV000486263 RCV000844606 RCV000763537

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

SNV
Germline

Chr5:112840957

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010335

rs_201472075

11 SubmittersRCV000211922 RCV000393057 RCV000590729 RCV000764566 RCV000159559 RCV000232274

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

SNV
Germline

Chr5:112838007

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA007452

rs_587779783

12 SubmittersRCV000115073 RCV000501097 RCV001292808 RCV001270020 RCV003997211 RCV001824606 RCV004562255 RCV003935094

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

SNV
Germline

Chr5:112792446

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA012198

rs_62619935

11 SubmittersRCV000115111 RCV000223521 RCV000763536 RCV002281931 RCV003460798 RCV003997226

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

SNV
Germline

Chr5:112841395

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA010706

rs_587780600

16 SubmittersRCV000122787 RCV000211923 RCV000210078 RCV000210900 RCV000159562 RCV000764567 RCV001155575 RCV000656747 RCV003398739

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

SNV
Germline

Chr5:112780895

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA011131

rs_587781392

9 SubmittersRCV000129233 RCV000202175 RCV000763535 RCV001353439 RCV000825611 RCV002512529

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

Criteria Provided
Conflicting Classifications

CA015444

rs_147287751

16 SubmittersRCV000129949 RCV000198030 RCV000283075 RCV000515282 RCV000656753 RCV002267871

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
Carcinoma of colon
Hepatocellular carcinoma
Familial adenomatous polyposis 1
Neoplasm of stomach
Desmoid disease, hereditary
APC-Associated Polyposis Disorders
not specified

Criteria Provided
Conflicting Classifications

CA012330

rs_35540155

11 SubmittersRCV000130211 RCV000409211 RCV000484737 RCV000765788 RCV001157265 RCV002222403

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

SNV
Germline

Chr5:112843870

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA014525

rs_538289470

9 SubmittersRCV000130304 RCV000765791 RCV001549810 RCV002469020 RCV003430706 RCV003764867 RCV003998055

NM_000038.6(APC):c.70C>T (p.Arg24Ter)

SNV
Germline

Chr5:112754960

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA012843

rs_145945630

16 SubmittersRCV000164002 RCV000227124 RCV000482864 RCV000508297 RCV000763534 RCV000844605 RCV001353710 RCV003162685 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
Carcinoma of colon
Familial adenomatous polyposis 1
Neoplasm of stomach
Hepatocellular carcinoma
Desmoid disease, hereditary
Carcinoma of colon
Familial adenomatous polyposis 1
Colorectal cancer

Reviewed By Expert Panel

CA015543

rs_786201856

12 SubmittersRCV000164351 RCV000202113 RCV000501350 RCV000763538 RCV001353622 RCV002517615 RCV001789763

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

Criteria Provided
Conflicting Classifications

CA028603

rs_138098808

10 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
Familial adenomatous polyposis 1
Neoplasm of stomach
Hepatocellular carcinoma
Classic or attenuated familial adenomatous polyposis

Criteria Provided
Conflicting Classifications

CA050869

rs_780049836

10 SubmittersRCV000196318 RCV000478701 RCV000567493 RCV000779724 RCV000765792 RCV003996983

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
Carcinoma of colon
Familial adenomatous polyposis 1
Neoplasm of stomach
Hepatocellular carcinoma
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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10578303

rs_876660765

4 SubmittersRCV000217532 RCV000763539 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
Carcinoma of colon
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Neoplasm of stomach
Hepatocellular carcinoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA028394

rs_371453363

8 SubmittersRCV000221284 RCV000461223 RCV000764560 RCV001284232

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
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Neoplasm of stomach
Hepatocellular carcinoma
not specified
Familial adenomatous polyposis 1

Criteria Provided
Conflicting Classifications

CA032224

rs_186641437

7 SubmittersRCV000220641 RCV000485918 RCV000764563 RCV001174911 RCV002515684

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

SNV
Germline

Chr5:112801340

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA049479

rs_369345931

8 SubmittersRCV000483155 RCV000764559 RCV000575683 RCV004001922 RCV002525602

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

SNV
Germline

Chr5:112707514

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA029508

rs_372416031

11 SubmittersRCV000554226 RCV000561260 RCV000764562 RCV001356454 RCV003403312 RCV003153714 RCV003493637 RCV003999361

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

SNV
Germline

Chr5:112707590

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA124924970

rs_543098847

3 SubmittersRCV000764557 RCV003960352 RCV004561543

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
Neoplasm of stomach
Desmoid disease, hereditary
Familial adenomatous polyposis 1
Hepatocellular carcinoma
Carcinoma of colon
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.3867T>A (p.Cys1289Ter)

SNV
Germline

Chr5:112839461

Pathogenic

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

Criteria Provided
Conflicting Classifications

rs_771458366

5 SubmittersRCV001016394 RCV003141857 RCV004002836 RCV004562803