| - GRCh37:
- Chr5:112178694
- GRCh38:
- Chr5:112842997
| APC | S2084L, S2185L, S2308L, S2339L, S2342L, S2367L, S2377L, S2385L, S2409L, S2427L, S2440L, S2443L, S2450L, S2458L, S2461L, S2468L, S2478L, S2486L, S2496L | Desmoid disease, hereditary | Uncertain significance
(Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:112103097
- GRCh38:
- Chr5:112767400
| APC | | Familial adenomatous polyposis 1, Gastric adenocarcinoma and proximal polyposis of the stomach, Stomach cancer,
Colorectal cancer, Hepatocellular carcinoma, Desmoid disease, hereditary,
Familial adenomatous polyposis 1 | Likely benign
(Apr 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112175721
- GRCh38:
- Chr5:112840024
| APC | Q1487R, Q1351R, Q1376R, Q1459R, Q1194R, Q1418R, Q1436R, Q1449R, Q1452R, Q1477R, Q1317R, Q1386R, Q1495R | Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome, Colorectal cancer,
Stomach cancer, Hepatocellular carcinoma, Gastric adenocarcinoma and proximal polyposis of the stomach,
Desmoid disease, hereditary, Familial adenomatous polyposis 1 | Uncertain significance
(Mar 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112173864
- GRCh38:
- Chr5:112838167
| APC | I575T, I698T, I732T, I757T, I767T, I799T, I817T, I830T, I833T, I840T, I858T, I868T, I876T | Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome, not provided,
Familial adenomatous polyposis 1, Stomach cancer, Desmoid disease, hereditary,
Hepatocellular carcinoma, Colorectal cancer, Gastric adenocarcinoma and proximal polyposis of the stomach
| Uncertain significance
(Jul 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112043273
- GRCh38:
- Chr5:112707576
| APC | | Familial adenomatous polyposis 1, Colorectal cancer, Familial adenomatous polyposis 1,
Desmoid disease, hereditary, Stomach cancer, Hepatocellular carcinoma,
Gastric adenocarcinoma and proximal polyposis of the stomach | Uncertain significance
(Sep 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112043327
- GRCh38:
- Chr5:112707630
| APC | | Desmoid disease, hereditary, Familial adenomatous polyposis 1, Hepatocellular carcinoma,
Stomach cancer, Colorectal cancer, Gastric adenocarcinoma and proximal polyposis of the stomach,
Familial adenomatous polyposis 1 | Uncertain significance
(May 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112174983-112174984
- GRCh38:
- Chr5:112839286-112839287
| APC | H1072fs, H1106fs, H1131fs, H1141fs, H1173fs, H1191fs, H1204fs, H1207fs, H1214fs, H1232fs, H1242fs, H1250fs, H949fs | Desmoid disease, hereditary | Pathogenic
(Mar 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:112179237
- GRCh38:
- Chr5:112843540
| APC | P2489L, P2608L, P2621L, P2624L, P2667L, P2548L, P2590L, P2659L, P2558L, P2366L, P2523L, P2631L, P2649L | Familial adenomatous polyposis 1, Desmoid disease, hereditary, Hepatocellular carcinoma,
Stomach cancer, Colorectal cancer, Familial adenomatous polyposis 1,
Gastric adenocarcinoma and proximal polyposis of the stomach | Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112174806
- GRCh38:
- Chr5:112839109
| APC | H1071L, H1113L, H1144L, H1012L, H1172L, H1182L, H1190L, H1046L, H1081L, H1147L, H1154L, H1131L, H889L | Familial adenomatous polyposis 1, Desmoid disease, hereditary, Hepatocellular carcinoma,
Stomach cancer, Colorectal cancer, Familial adenomatous polyposis 1,
Gastric adenocarcinoma and proximal polyposis of the stomach, Hereditary cancer-predisposing syndrome | Uncertain significance
(May 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112177509
- GRCh38:
- Chr5:112841812
| APC | G1947D, G1972D, G2014D, G2048D, G2073D, G2091D, G1913D, G2083D, G1790D, G1982D, G2032D, G2045D, G2055D | Gastric adenocarcinoma and proximal polyposis of the stomach, Hepatocellular carcinoma, Stomach cancer,
Colorectal cancer, Familial adenomatous polyposis 1, Desmoid disease, hereditary,
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome | Uncertain significance
(Apr 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112151175
- GRCh38:
- Chr5:112815478
| APC | | Hepatocellular carcinoma, Colorectal cancer, Desmoid disease, hereditary,
Familial adenomatous polyposis 1, Stomach cancer, Gastric adenocarcinoma and proximal polyposis of the stomach,
Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(Dec 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112111309-112111310
- GRCh38:
- Chr5:112775612-112775613
| APC | | not specified, Familial adenomatous polyposis 1, Hepatocellular carcinoma,
Gastric adenocarcinoma and proximal polyposis of the stomach, Stomach cancer, Desmoid disease, hereditary,
Colorectal cancer, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
| Benign/Likely benign
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112174010
- GRCh38:
- Chr5:112838313
| APC | G624R, G781R, G907R, G816R, G882R, G917R, G925R, G806R, G879R, G889R, G747R, G848R, G866R | Hereditary cancer-predisposing syndrome, Desmoid disease, hereditary, Familial adenomatous polyposis 1
| Conflicting interpretations of pathogenicity
(Jul 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112174554
- GRCh38:
- Chr5:112838857
| APC | K987T, K1029T, K1047T, K1106T, K1063T, K1070T, K1060T, K1088T, K1098T, K805T, K928T, K962T, K997T | Hereditary cancer-predisposing syndrome, not provided, Familial adenomatous polyposis 1,
Hepatocellular carcinoma, Familial adenomatous polyposis 1, Stomach cancer,
Colorectal cancer, Gastric adenocarcinoma and proximal polyposis of the stomach, Desmoid disease, hereditary
| Uncertain significance
(Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112173405
- GRCh38:
- Chr5:112837708
| APC | S687N, S705N, S545N, S604N, S680N, S723N, S614N, S646N, S664N, S677N, S422N, S579N, S715N | not provided, Familial adenomatous polyposis 1, Familial adenomatous polyposis 1,
Colorectal cancer, Hepatocellular carcinoma, Stomach cancer,
Gastric adenocarcinoma and proximal polyposis of the stomach, Desmoid disease, hereditary, Hereditary cancer-predisposing syndrome
| Conflicting interpretations of pathogenicity
(May 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112175929-112175930
- GRCh38:
- Chr5:112840232-112840233
| APC | N1263fs, N1386fs, N1455fs, N1487fs, N1505fs, N1518fs, N1528fs, N1546fs, N1556fs, N1564fs, N1420fs, N1445fs, N1521fs | not provided, Stomach cancer, Hepatocellular carcinoma,
Colorectal cancer, Gastric adenocarcinoma and proximal polyposis of the stomach, Desmoid disease, hereditary,
Familial adenomatous polyposis 1 | Pathogenic/Likely pathogenic
(Nov 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112178388
- GRCh38:
- Chr5:112842691
| APC | Y2366C, Y2348C, Y2206C, Y2275C, Y2325C, Y2083C, Y2240C, Y2338C, Y2265C, Y2307C, Y2341C, Y2376C, Y2384C | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1, Gastric adenocarcinoma and proximal polyposis of the stomach,
Desmoid disease, hereditary, Stomach cancer, Familial adenomatous polyposis 1,
Hepatocellular carcinoma, Colorectal cancer | Uncertain significance
(Nov 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112174952
- GRCh38:
- Chr5:112839255
| APC | P1203S, P1221S, P1061S, P1095S, P1162S, P938S, P1193S, P1196S, P1231S, P1120S, P1130S, P1180S, P1239S | Familial adenomatous polyposis 1, Gastric adenocarcinoma and proximal polyposis of the stomach, Desmoid disease, hereditary,
Stomach cancer, Familial adenomatous polyposis 1, Hepatocellular carcinoma,
Colorectal cancer, Hereditary cancer-predisposing syndrome | Uncertain significance
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112175158
- GRCh38:
- Chr5:112839461
| APC | C1271*, C1289*, C1006*, C1129*, C1230*, C1248*, C1307*, C1163*, C1198*, C1264*, C1188*, C1261*, C1299* | Hereditary cancer-predisposing syndrome, not provided, Desmoid disease, hereditary,
Familial adenomatous polyposis 1, Neoplasm of stomach, Carcinoma of colon,
Hepatocellular carcinoma, Familial adenomatous polyposis 1 | Pathogenic
(Apr 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112043383
- GRCh38:
- Chr5:112707686
| APC | | Familial adenomatous polyposis 1, Stomach cancer, Desmoid disease, hereditary,
Familial adenomatous polyposis 1, Gastric adenocarcinoma and proximal polyposis of the stomach, Colorectal cancer,
Hepatocellular carcinoma | Uncertain significance
(Oct 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112174656
- GRCh38:
- Chr5:112838959
| APC | N1104S, N1122S, N1031S, N1063S, N1081S, N1097S, N1021S, N1132S, N839S, N1094S, N1140S, N962S, N996S | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1, not specified,
Hepatocellular carcinoma, Familial adenomatous polyposis 1, Desmoid disease, hereditary,
Stomach cancer, Colorectal cancer, Gastric adenocarcinoma and proximal polyposis of the stomach
| Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112178018
- GRCh38:
- Chr5:112842321
| APC | T2225A, T2243A, T2152A, T2261A, T1960A, T2083A, T2142A, T2202A, T2218A, T2117A, T2184A, T2215A, T2253A | Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome, not provided,
Hepatocellular carcinoma, Familial adenomatous polyposis 1, Desmoid disease, hereditary,
Stomach cancer, Colorectal cancer, Gastric adenocarcinoma and proximal polyposis of the stomach
| Uncertain significance
(Dec 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112176906
- GRCh38:
- Chr5:112841209
| APC | V1854D, V1872D, V1589D, V1831D, V1882D, V1746D, V1771D, V1890D, V1813D, V1847D, V1712D, V1781D, V1844D | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1, Hepatocellular carcinoma,
Familial adenomatous polyposis 1, Desmoid disease, hereditary, Stomach cancer,
Colorectal cancer, Gastric adenocarcinoma and proximal polyposis of the stomach | Uncertain significance
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112102910
- GRCh38:
- Chr5:112767213
| APC | F82S, F92S, F23S, F57S | Familial adenomatous polyposis 1, Desmoid disease, hereditary, Hereditary cancer-predisposing syndrome
| Uncertain significance
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112170724
- GRCh38:
- Chr5:112835027
| APC | C589S, C607S, C516S, C566S, C617S, C625S, C447S, C324S, C548S, C481S, C506S, C579S, C582S | Familial adenomatous polyposis 1, Desmoid disease, hereditary, Hereditary cancer-predisposing syndrome
| Uncertain significance
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112178027
- GRCh38:
- Chr5:112842330
| APC | V2246I, V2228I, V2218I, V2256I, V2086I, V2120I, V2187I, V2264I, V2221I, V1963I, V2145I, V2155I, V2205I | Desmoid disease, hereditary, Neoplasm of stomach, Familial adenomatous polyposis 1,
Carcinoma of colon, Hepatocellular carcinoma, Familial adenomatous polyposis 1,
Hereditary cancer-predisposing syndrome, not provided, Familial adenomatous polyposis 1
| Conflicting interpretations of pathogenicity
(Aug 23, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112174781
- GRCh38:
- Chr5:112839084
| APC | I1164V, I1146V, I1004V, I1073V, I1136V, I1182V, I1063V, I1123V, I881V, I1174V, I1038V, I1105V, I1139V | Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome, Hepatocellular carcinoma,
Familial adenomatous polyposis 1, Desmoid disease, hereditary, Stomach cancer,
Colorectal cancer, Gastric adenocarcinoma and proximal polyposis of the stomach | Uncertain significance
(Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112179573
- GRCh38:
- Chr5:112843876
| APC | P2743L, P2761L, P2635L, P2660L, P2702L, P2720L, P2733L, P2601L, P2771L, P2779L, P2478L, P2670L, P2736L | Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome, Gastric adenocarcinoma and proximal polyposis of the stomach,
Hepatocellular carcinoma, Colorectal cancer, Stomach cancer,
Desmoid disease, hereditary, Familial adenomatous polyposis 1, not provided
| Uncertain significance
(Jul 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112090661-112090662
- GRCh38:
- Chr5:112754964-112754965
| APC | Q25fs | Familial adenomatous polyposis 1, not provided, Gastric adenocarcinoma and proximal polyposis of the stomach,
Hepatocellular carcinoma, Colorectal cancer, Stomach cancer,
Desmoid disease, hereditary, Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
| Pathogenic
(Jun 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112178457
- GRCh38:
- Chr5:112842760
| APC | S2371N, S2389N, S2399N, S2263N, S2288N, S2298N, S2330N, S2106N, S2348N, S2361N, S2364N, S2229N, S2407N | Hepatocellular carcinoma, Desmoid disease, hereditary, Carcinoma of colon,
Familial adenomatous polyposis 1, Neoplasm of stomach, not provided,
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome | Uncertain significance
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112178427
- GRCh38:
- Chr5:112842730
| APC | T2361S, T2379S, T2397S, T2219S, T2253S, T2351S, T2354S, T2389S, T2096S, T2278S, T2288S, T2320S, T2338S | Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome, not provided,
Gastric adenocarcinoma and proximal polyposis of the stomach, Hepatocellular carcinoma, Colorectal cancer,
Stomach cancer, Desmoid disease, hereditary, Familial adenomatous polyposis 1
| Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112176138
- GRCh38:
- Chr5:112840441
| APC | K1598I, K1616I, K1490I, K1515I, K1525I, K1557I, K1591I, K1626I, K1575I, K1456I, K1333I, K1588I, K1634I | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1, Hepatocellular carcinoma,
Desmoid disease, hereditary, Carcinoma of colon, Familial adenomatous polyposis 1,
Neoplasm of stomach | Uncertain significance
(Feb 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112174980
- GRCh38:
- Chr5:112839283
| APC | Q1212R, Q1230R, Q1205R, Q1070R, Q1129R, Q1189R, Q1240R, Q1139R, Q1171R, Q1248R, Q1104R, Q1202R, Q947R | Familial adenomatous polyposis 1, not specified, not provided,
Desmoid disease, hereditary, Hereditary cancer-predisposing syndrome | Uncertain significance
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112043211
- GRCh38:
- Chr5:112707514
| APC | | Hepatocellular carcinoma, Desmoid disease, hereditary, Carcinoma of colon,
Familial adenomatous polyposis 1, Neoplasm of stomach, Familial adenomatous polyposis 1
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112043248
- GRCh38:
- Chr5:112707551
| APC | | Familial adenomatous polyposis 1, Gastric adenocarcinoma and proximal polyposis of the stomach, Hepatocellular carcinoma,
Colorectal cancer, Stomach cancer, Desmoid disease, hereditary,
Familial adenomatous polyposis 1 | Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112043287
- GRCh38:
- Chr5:112707590
| APC | | Familial adenomatous polyposis 1, Hepatocellular carcinoma, Desmoid disease, hereditary,
Carcinoma of colon, Familial adenomatous polyposis 1, Neoplasm of stomach
| Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112043415
- GRCh38:
- Chr5:112707718
| APC | M1V | Hepatocellular carcinoma, Desmoid disease, hereditary, Carcinoma of colon,
Familial adenomatous polyposis 1, Neoplasm of stomach, Familial adenomatous polyposis 1
| Uncertain significance
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112173451
- GRCh38:
- Chr5:112837754
| APC | M702I, M720I, M629I, M437I, M594I, M661I, M730I, M738I, M695I, M560I, M619I, M679I, M692I | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1, Gastric adenocarcinoma and proximal polyposis of the stomach,
Hepatocellular carcinoma, Colorectal cancer, Stomach cancer,
Desmoid disease, hereditary, Familial adenomatous polyposis 1 | Uncertain significance
(Aug 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112170666
- GRCh38:
- Chr5:112834969
| APC | V570I, V588I, V305I, V428I, V487I, V497I, V560I, V529I, V606I, V462I, V547I, V563I, V598I | Ovarian cancer, Familial adenomatous polyposis 1, Desmoid disease, hereditary,
Hepatocellular carcinoma, Familial adenomatous polyposis 1, Neoplasm of stomach,
Carcinoma of colon, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
| Conflicting interpretations of pathogenicity
(Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112154922
- GRCh38:
- Chr5:112819225
| APC | K380R, K398R, K115R, K339R, K408R, K370R, K373R | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1, not specified,
Gastric adenocarcinoma and proximal polyposis of the stomach, Hepatocellular carcinoma, Colorectal cancer,
Stomach cancer, Desmoid disease, hereditary, Familial adenomatous polyposis 1,
not provided | Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112176556-112176559
- GRCh38:
- Chr5:112840859-112840862
| APC | | not specified, Familial adenomatous polyposis 1, Desmoid disease, hereditary,
Stomach cancer, Colorectal cancer, Gastric adenocarcinoma and proximal polyposis of the stomach,
Familial adenomatous polyposis 1, Hepatocellular carcinoma | Benign/Likely benign
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112175191-112175192
- GRCh38:
- Chr5:112839494-112839495
| APC | T1200fs, T1210fs, T1242fs, T1311fs, T1319fs, T1175fs, T1260fs, T1276fs, T1018fs, T1141fs, T1283fs, T1273fs, T1301fs | Hereditary cancer-predisposing syndrome, Familial multiple polyposis syndrome, not provided,
Desmoid disease, hereditary, Stomach cancer, Colorectal cancer,
Gastric adenocarcinoma and proximal polyposis of the stomach, Familial adenomatous polyposis 1, Hepatocellular carcinoma
| Pathogenic/Likely pathogenic
(Mar 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112137059
- GRCh38:
- Chr5:112801362
| APC | M253I, M271I, M212I, M246I, M281I, M243I | Hereditary cancer-predisposing syndrome, not provided, Stomach cancer,
Colorectal cancer, Desmoid disease, hereditary, Gastric adenocarcinoma and proximal polyposis of the stomach,
Familial adenomatous polyposis 1, Hepatocellular carcinoma, not specified,
Familial adenomatous polyposis 1 | Uncertain significance
(Apr 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112175623
- GRCh38:
- Chr5:112839926
| APC | Q1426H, Q1444H, Q1403H, Q1318H, Q1419H, Q1454H, Q1161H, Q1462H, Q1284H, Q1343H, Q1353H, Q1385H, Q1416H | Familial adenomatous polyposis 1, Desmoid disease, hereditary, Hepatocellular carcinoma,
Stomach cancer, Familial adenomatous polyposis 1, Gastric adenocarcinoma and proximal polyposis of the stomach,
Colorectal cancer, Hereditary cancer-predisposing syndrome, not provided
| Conflicting interpretations of pathogenicity
(Mar 7, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112176302
- GRCh38:
- Chr5:112840605
| APC | A1653T, A1671T, A1388T, A1545T, A1612T, A1681T, A1689T, A1580T, A1643T, A1646T, A1511T, A1570T, A1630T | Familial adenomatous polyposis 1, Desmoid disease, hereditary, Hepatocellular carcinoma,
Stomach cancer, Familial adenomatous polyposis 1, Gastric adenocarcinoma and proximal polyposis of the stomach,
Colorectal cancer, Hereditary cancer-predisposing syndrome, not provided
| Uncertain significance
(Apr 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112179572
- GRCh38:
- Chr5:112843875
| APC | P2761S, P2743S, P2478S, P2601S, P2660S, P2670S, P2733S, P2635S, P2702S, P2736S, P2771S, P2779S, P2720S | Hereditary cancer-predisposing syndrome, Desmoid disease, hereditary, Hepatocellular carcinoma,
Stomach cancer, Familial adenomatous polyposis 1, Gastric adenocarcinoma and proximal polyposis of the stomach,
Colorectal cancer, not specified, Familial adenomatous polyposis 1
| Uncertain significance
(May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112102099
- GRCh38:
- Chr5:112766402
| APC | R71H, R81H, R12H, R46H | not provided, Desmoid disease, hereditary, Hepatocellular carcinoma,
Stomach cancer, Familial adenomatous polyposis 1, Gastric adenocarcinoma and proximal polyposis of the stomach,
Colorectal cancer, Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome,
not specified | Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112175690
- GRCh38:
- Chr5:112839993
| APC | P1467S, P1449S, P1341S, P1439S, P1366S, P1477S, P1184S, P1307S, P1426S, P1442S, P1376S, P1408S, P1485S | Familial adenomatous polyposis 1 | Benign
(Feb 26, 2023) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr5:112137037
- GRCh38:
- Chr5:112801340
| APC | Q246R, Q264R, Q239R, Q274R, Q205R, Q236R | Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome, not provided,
Desmoid disease, hereditary, Carcinoma of colon, Hepatocellular carcinoma,
Familial adenomatous polyposis 1, Neoplasm of stomach | Conflicting interpretations of pathogenicity
(Jun 12, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112137022
- GRCh38:
- Chr5:112801325
| APC | R241Q, R259Q, R231Q, R269Q, R200Q, R234Q | Hereditary cancer-predisposing syndrome, not provided, Familial adenomatous polyposis 1,
Desmoid disease, hereditary, Hepatocellular carcinoma, Stomach cancer,
Familial adenomatous polyposis 1, Gastric adenocarcinoma and proximal polyposis of the stomach, Colorectal cancer,
not specified | Uncertain significance
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112177185
- GRCh38:
- Chr5:112841488
| APC | H1965P, H1947P, H1975P, H1682P, H1805P, H1839P, H1937P, H1983P, H1924P, H1864P, H1874P, H1906P, H1940P | APC-Associated Polyposis Disorders, Hereditary cancer-predisposing syndrome, not specified,
Stomach cancer, Desmoid disease, hereditary, Hepatocellular carcinoma,
Familial adenomatous polyposis 1, Gastric adenocarcinoma and proximal polyposis of the stomach, Colorectal cancer,
Familial adenomatous polyposis 1 | Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112176573
- GRCh38:
- Chr5:112840876
| APC | N1743T, N1761T, N1660T, N1702T, N1733T, N1779T, N1478T, N1601T, N1635T, N1670T, N1720T, N1736T, N1771T | not provided, Hereditary cancer-predisposing syndrome, Colorectal cancer,
Stomach cancer, Familial adenomatous polyposis 1, Hepatocellular carcinoma,
Desmoid disease, hereditary, Gastric adenocarcinoma and proximal polyposis of the stomach, Familial adenomatous polyposis 1
| Conflicting interpretations of pathogenicity
(Mar 3, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112176254
- GRCh38:
- Chr5:112840557
| APC | T1637A, T1655A, T1614A, T1673A, T1495A, T1564A, T1627A, T1665A, T1372A, T1529A, T1554A, T1596A, T1630A | not provided, Hereditary cancer-predisposing syndrome, Colorectal cancer,
Stomach cancer, Familial adenomatous polyposis 1, Hepatocellular carcinoma,
Desmoid disease, hereditary, Gastric adenocarcinoma and proximal polyposis of the stomach, Familial adenomatous polyposis 1
| Conflicting interpretations of pathogenicity
(Mar 3, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112151291
- GRCh38:
- Chr5:112815594
| APC | | Carcinoma of colon, Familial adenomatous polyposis 1, Neoplasm of stomach,
Hepatocellular carcinoma, Desmoid disease, hereditary, Hereditary cancer-predisposing syndrome,
Familial adenomatous polyposis 1 | Pathogenic/Likely pathogenic
(Sep 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112178396
- GRCh38:
- Chr5:112842699
| APC | P2351S, P2369S, P2086S, P2243S, P2341S, P2344S, P2310S, P2387S, P2379S, P2209S, P2268S, P2278S, P2328S | Hereditary cancer-predisposing syndrome, Colorectal cancer, Stomach cancer,
Familial adenomatous polyposis 1, Hepatocellular carcinoma, Desmoid disease, hereditary,
Gastric adenocarcinoma and proximal polyposis of the stomach, not provided, not specified,
Familial adenomatous polyposis 1 | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112173765
- GRCh38:
- Chr5:112838068
| APC | Y807C, Y825C, Y734C, Y797C, Y766C, Y800C, Y542C, Y665C, Y699C, Y724C, Y835C, Y843C, Y784C | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1, Carcinoma of colon,
Familial adenomatous polyposis 1, Neoplasm of stomach, Hepatocellular carcinoma,
Desmoid disease, hereditary, not provided, not specified
| Conflicting interpretations of pathogenicity
(Apr 27, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112163630
- GRCh38:
- Chr5:112827933
| APC | T500M, T518M, T417M, T477M, T493M, T528M, T536M, T235M, T358M, T392M, T427M, T459M, T490M | not provided, Carcinoma of colon, Familial adenomatous polyposis 1,
Neoplasm of stomach, Hepatocellular carcinoma, Desmoid disease, hereditary,
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 | Uncertain significance
(Feb 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112157613
- GRCh38:
- Chr5:112821916
| APC | Q427E, Q445E, Q162E, Q285E, Q319E, Q354E, Q386E, Q417E, Q344E, Q420E, Q455E | Colorectal cancer, Stomach cancer, Familial adenomatous polyposis 1,
Hepatocellular carcinoma, Desmoid disease, hereditary, Gastric adenocarcinoma and proximal polyposis of the stomach,
Hereditary cancer-predisposing syndrome, not provided, Familial adenomatous polyposis 1
| Uncertain significance
(Jan 31, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112176918
- GRCh38:
- Chr5:112841221
| APC | R1858M, R1876M, R1750M, R1785M, R1894M, R1775M, R1817M, R1851M, R1886M, R1593M, R1848M, R1716M, R1835M | Hereditary cancer-predisposing syndrome, not provided, Colorectal cancer,
Stomach cancer, Familial adenomatous polyposis 1, Hepatocellular carcinoma,
Desmoid disease, hereditary, Gastric adenocarcinoma and proximal polyposis of the stomach, Familial adenomatous polyposis 1
| Conflicting interpretations of pathogenicity
(Oct 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112162934
- GRCh38:
- Chr5:112827237
| APC | V495A, V513A, V485A, V488A, V523A, V412A, V422A, V353A, V387A, V472A, V531A, V230A, V454A | not provided, Colorectal cancer, Stomach cancer,
Familial adenomatous polyposis 1, Hepatocellular carcinoma, Desmoid disease, hereditary,
Gastric adenocarcinoma and proximal polyposis of the stomach, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
| Uncertain significance
(Feb 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112177113-112177116
- GRCh38:
- Chr5:112841416-112841419
| APC | D1816fs, D1841fs, D1883fs, D1914fs, D1942fs, D1901fs, D1917fs, D1851fs, D1924fs, D1659fs, D1782fs, D1952fs, D1960fs | not provided, Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
| Pathogenic
(Aug 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112155044
- GRCh38:
- Chr5:112819347
| APC | | Hereditary cancer-predisposing syndrome, not provided, Carcinoma of colon,
Familial adenomatous polyposis 1, Hepatocellular carcinoma, Desmoid disease, hereditary,
Neoplasm of stomach, Familial adenomatous polyposis 1 | Pathogenic/Likely pathogenic
(Feb 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112179753
- GRCh38:
- Chr5:112844056
| APC | D2803G, D2821G, D2780G, D2793G, D2839G, D2661G, D2695G, D2831G, D2762G, D2796G, D2538G, D2720G, D2730G | not provided, Desmoid disease, hereditary, Carcinoma of colon,
Familial adenomatous polyposis 1, Neoplasm of stomach, Hepatocellular carcinoma,
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1, Familial adenomatous polyposis 1,
not specified | Conflicting interpretations of pathogenicity
(Feb 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112179308
- GRCh38:
- Chr5:112843611
| APC | R2655G, R2673G, R2614G, R2691G, R2582G, R2645G, R2683G, R2547G, R2572G, R2648G, R2390G, R2513G, R2632G | not specified, not provided, Gastric adenocarcinoma and proximal polyposis of the stomach,
Familial adenomatous polyposis 1, Stomach cancer, Colorectal cancer,
Hepatocellular carcinoma, Desmoid disease, hereditary, Hereditary cancer-predisposing syndrome,
Familial adenomatous polyposis 1 | Conflicting interpretations of pathogenicity
(Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112176278
- GRCh38:
- Chr5:112840581
| APC | E1645K, E1663K, E1380K, E1681K, E1503K, E1537K, E1562K, E1622K, E1635K, E1673K, E1572K, E1604K, E1638K | not specified, Familial adenomatous polyposis 1, Gastric adenocarcinoma and proximal polyposis of the stomach,
Familial adenomatous polyposis 1, Stomach cancer, Colorectal cancer,
Hepatocellular carcinoma, Desmoid disease, hereditary, Hereditary cancer-predisposing syndrome
| Uncertain significance
(Oct 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112163683
- GRCh38:
- Chr5:112827986
| APC | E518K, E536K, E435K, E445K, E495K, E508K, E376K, E410K, E511K, E554K, E253K, E477K, E546K | Hereditary cancer-predisposing syndrome, Desmoid disease, hereditary, Familial adenomatous polyposis 1,
Neoplasm of stomach, Hepatocellular carcinoma, Carcinoma of colon,
not specified, not provided, Familial adenomatous polyposis 1
| Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112154971
- GRCh38:
- Chr5:112819274
| APC | | Familial adenomatous polyposis 1 | Benign
(Feb 18, 2023) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr5:112116528
- GRCh38:
- Chr5:112780831
| APC | | APC-Associated Polyposis Disorders, Hereditary cancer-predisposing syndrome, not specified,
not provided, Gastric adenocarcinoma and proximal polyposis of the stomach, Familial adenomatous polyposis 1,
Stomach cancer, Colorectal cancer, Hepatocellular carcinoma,
Desmoid disease, hereditary, Familial adenomatous polyposis 1 ...see more | Benign/Likely benign
(Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112178822
- GRCh38:
- Chr5:112843125
| APC | L2493F, L2511F, L2420F, L2452F, L2470F, L2486F, L2529F, L2228F, L2351F, L2483F, L2385F, L2410F, L2521F | not provided, Familial adenomatous polyposis 1, Hepatocellular carcinoma,
Colorectal cancer, Stomach cancer, Gastric adenocarcinoma and proximal polyposis of the stomach,
Desmoid disease, hereditary, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
| Conflicting interpretations of pathogenicity
(Jun 7, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112177548
- GRCh38:
- Chr5:112841851
| APC | P2068R, P2086R, P1985R, P1995R, P2058R, P1803R, P2045R, P2096R, P1960R, P2027R, P2061R, P1926R, P2104R | Carcinoma of colon, Familial adenomatous polyposis 1, Hepatocellular carcinoma,
Desmoid disease, hereditary, Neoplasm of stomach, Hereditary cancer-predisposing syndrome,
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 | Uncertain significance
(Feb 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112151204
- GRCh38:
- Chr5:112815507
| APC | R265*, R283*, R255*, R224*, R258*, R293* | Familial adenomatous polyposis 1 | Pathogenic
(Feb 18, 2023) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr5:112154723
- GRCh38:
- Chr5:112819026
| APC | R314*, R332*, R304*, R342*, R273*, R307*, R49* | Hereditary cancer-predisposing syndrome, not provided, Familial adenomatous polyposis 1,
Familial multiple polyposis syndrome, Familial adenomatous polyposis 1, Hepatocellular carcinoma,
Colorectal cancer, Desmoid disease, hereditary, Familial adenomatous polyposis 1,
Stomach cancer, Gastric adenocarcinoma and proximal polyposis of the stomach ...see more | Pathogenic
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112090657
- GRCh38:
- Chr5:112754960
| APC | R24* | not specified, Familial multiple polyposis syndrome, Familial adenomatous polyposis 1,
not provided, Familial adenomatous polyposis 1, Neoplasm of stomach,
Hepatocellular carcinoma, Carcinoma of colon, Desmoid disease, hereditary,
Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(Feb 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112176396
- GRCh38:
- Chr5:112840699
| APC | G1684E, G1702E, G1542E, G1643E, G1712E, G1601E, G1611E, G1674E, G1661E, G1419E, G1576E, G1677E, G1720E | Hepatocellular carcinoma, Familial adenomatous polyposis 1, Neoplasm of stomach,
Desmoid disease, hereditary, Carcinoma of colon, Hereditary cancer-predisposing syndrome,
not specified, Familial adenomatous polyposis 1, not provided,
Familial adenomatous polyposis 1 | Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112174440
- GRCh38:
- Chr5:112838743
| APC | A1009fs, A1032fs, A767fs, A890fs, A991fs, A1022fs, A1025fs, A1050fs, A1068fs, A924fs, A949fs, A959fs, A1060fs | Hereditary cancer-predisposing syndrome, not provided, Familial multiple polyposis syndrome,
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1, Familial adenomatous polyposis 1,
Desmoid disease, hereditary, Colorectal cancer, Stomach cancer,
Gastric adenocarcinoma and proximal polyposis of the stomach, Hepatocellular carcinoma ...see more | Pathogenic
(Jul 19, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112154970
- GRCh38:
- Chr5:112819273
| APC | R396H, R414H, R288H, R313H, R424H, R131H, R355H, R254H, R323H, R386H, R389H | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1, Hepatocellular carcinoma,
Colorectal cancer, Stomach cancer, Gastric adenocarcinoma and proximal polyposis of the stomach,
Desmoid disease, hereditary, not specified, not provided,
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 ...see more | Conflicting interpretations of pathogenicity
(Jun 8, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112111310
- GRCh38:
- Chr5:112775613
| APC | | Familial adenomatous polyposis 1 | Benign
(Feb 18, 2023) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr5:112173767
- GRCh38:
- Chr5:112838070
| APC | L808V, L826V, L735V, L725V, L767V, L798V, L801V, L836V, L543V, L666V, L700V, L785V, L844V | Familial adenomatous polyposis 1 | Benign
(Feb 25, 2023) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr5:112179567
- GRCh38:
- Chr5:112843870
| APC | R2741H, R2759H, R2599H, R2718H, R2731H, R2658H, R2668H, R2777H, R2633H, R2700H, R2769H, R2476H, R2734H | not provided, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1,
Carcinoma of colon, Familial adenomatous polyposis 1, Neoplasm of stomach,
Desmoid disease, hereditary, Hepatocellular carcinoma, not specified
| Conflicting interpretations of pathogenicity
(Jan 20, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112177930
- GRCh38:
- Chr5:112842233
| APC | M2195I, M2213I, M1930I, M2188I, M2231I, M2053I, M2172I, M2185I, M2087I, M2112I, M2223I, M2122I, M2154I | Hereditary cancer-predisposing syndrome, not provided, Familial adenomatous polyposis 1,
APC-Associated Polyposis Disorders, not specified, Carcinoma of colon,
Familial adenomatous polyposis 1, Neoplasm of stomach, Desmoid disease, hereditary,
Hepatocellular carcinoma | Conflicting interpretations of pathogenicity
(Feb 21, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112179680
- GRCh38:
- Chr5:112843983
| APC | S2779G, S2797G, S2514G, S2637G, S2706G, S2738G, S2671G, S2696G, S2769G, S2807G, S2756G, S2772G, S2815G | not specified, not provided, Familial adenomatous polyposis 1,
APC-Associated Polyposis Disorders, Hereditary cancer-predisposing syndrome, Carcinoma of colon,
Familial adenomatous polyposis 1, Neoplasm of stomach, Desmoid disease, hereditary,
Hepatocellular carcinoma | Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112151211
- GRCh38:
- Chr5:112815514
| APC | D267G, D285G, D295G, D257G, D2G, D226G, D260G | Hereditary cancer-predisposing syndrome, not provided, Familial adenomatous polyposis 1,
Familial adenomatous polyposis 1, Desmoid disease, hereditary, Hepatocellular carcinoma,
Familial adenomatous polyposis 1, Colorectal cancer, Stomach cancer,
Gastric adenocarcinoma and proximal polyposis of the stomach | Conflicting interpretations of pathogenicity
(Feb 21, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112116592
- GRCh38:
- Chr5:112780895
| APC | R213*, R223*, R154*, R188* | Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome, not provided,
Carcinoma of colon, Familial adenomatous polyposis 1, Neoplasm of stomach,
Desmoid disease, hereditary, Hepatocellular carcinoma, Familial multiple polyposis syndrome
| Pathogenic
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112177092
- GRCh38:
- Chr5:112841395
| APC | P1934L, P1916L, P1909L, P1651L, P1808L, P1833L, P1875L, P1906L, P1944L, P1774L, P1843L, P1952L, P1893L | APC-Associated Polyposis Disorders, Familial adenomatous polyposis 1, Neoplasm of stomach,
Hepatocellular carcinoma, Desmoid disease, hereditary, Carcinoma of colon,
Hereditary cancer-predisposing syndrome, not specified, not provided,
Familial multiple polyposis syndrome, Familial adenomatous polyposis 1Colorectal cancer, susceptibility to,
...see more | Conflicting interpretations of pathogenicity
(Jul 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112174802
- GRCh38:
- Chr5:112839105
| APC | R1153C, R1171C, R888C, R1011C, R1143C, R1146C, R1070C, R1112C, R1130C, R1045C, R1080C, R1181C, R1189C | Hereditary cancer-predisposing syndrome, not specified, not provided,
Familial multiple polyposis syndrome, Familial adenomatous polyposis 1, Gastric adenocarcinoma and proximal polyposis of the stomach,
Stomach cancer, Familial adenomatous polyposis 1, Hepatocellular carcinoma,
Colorectal cancer, Desmoid disease, hereditary ...see more | Benign/Likely benign
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112175617
- GRCh38:
- Chr5:112839920
| APC | | APC-Associated Polyposis Disorders, Hereditary cancer-predisposing syndrome, not specified,
not provided, Familial adenomatous polyposis 1, Gastric adenocarcinoma and proximal polyposis of the stomach,
Stomach cancer, Familial adenomatous polyposis 1, Hepatocellular carcinoma,
Colorectal cancer, Desmoid disease, hereditary ...see more | Benign
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112179099
- GRCh38:
- Chr5:112843402
| APC | E2603G, E2585G, E2443G, E2562G, E2575G, E2512G, E2320G, E2477G, E2544G, E2502G, E2578G, E2613G, E2621G | Hereditary cancer-predisposing syndrome, not provided, Familial adenomatous polyposis 1,
Familial adenomatous polyposis 1, Gastric adenocarcinoma and proximal polyposis of the stomach, Stomach cancer,
Familial adenomatous polyposis 1, Hepatocellular carcinoma, Colorectal cancer,
Desmoid disease, hereditary | Uncertain significance
(Mar 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112128143
- GRCh38:
- Chr5:112792446
| APC | R216*, R226*, R157*, R191* | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1, Neoplasm of stomach,
Hepatocellular carcinoma, Desmoid disease, hereditary, Carcinoma of colon,
not provided, Familial multiple polyposis syndrome, Familial adenomatous polyposis 1
| Pathogenic
(Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112175627
- GRCh38:
- Chr5:112839930
| APC | A1446T, A1428T, A1286T, A1464T, A1345T, A1387T, A1418T, A1163T, A1421T, A1320T, A1355T, A1405T, A1456T | Hereditary cancer-predisposing syndrome, not specified, not provided,
Familial adenomatous polyposis 1, Gastric adenocarcinoma and proximal polyposis of the stomach, Stomach cancer,
Familial adenomatous polyposis 1, Hepatocellular carcinoma, Colorectal cancer,
Desmoid disease, hereditary | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112173704
- GRCh38:
- Chr5:112838007
| APC | R805*, R787*, R679*, R714*, R746*, R777*, R823*, R522*, R704*, R780*, R645*, R764*, R815* | Hereditary cancer-predisposing syndrome, not provided, Familial multiple polyposis syndrome,
Familial adenomatous polyposis 1, Desmoid disease, hereditary | Pathogenic
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112176654
- GRCh38:
- Chr5:112840957
| APC | R1770H, R1788H, R1628H, R1662H, R1697H, R1687H, R1505H, R1798H, R1806H, R1729H, R1747H, R1760H, R1763H | Hereditary cancer-predisposing syndrome, APC-Associated Polyposis Disorders, Carcinoma of colon,
Desmoid disease, hereditary, Familial adenomatous polyposis 1, Hepatocellular carcinoma,
Neoplasm of stomach, not specified, not provided,
Familial adenomatous polyposis 1 | Conflicting interpretations of pathogenicity
(Feb 3, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112128191
- GRCh38:
- Chr5:112792494
| APC | R232*, R173*, R207*, R242* | Hepatocellular carcinoma, Desmoid disease, hereditary, Carcinoma of colon,
Familial adenomatous polyposis 1, Neoplasm of stomach, Familial adenomatous polyposis 1,
Hereditary cancer-predisposing syndrome, not provided, Familial multiple polyposis syndrome,
Familial adenomatous polyposis 1 | Pathogenic
(Sep 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112175770
- GRCh38:
- Chr5:112840073
| APC | | APC-Associated Polyposis Disorders, Hereditary cancer-predisposing syndrome, not specified,
not provided, Familial adenomatous polyposis 1, Familial adenomatous polyposis 1,
Hepatocellular carcinoma, Desmoid disease, hereditary, Gastric adenocarcinoma and proximal polyposis of the stomach,
Colorectal cancer, Stomach cancerFamilial adenomatous polyposis 1,
...see more | Benign
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112162854
- GRCh38:
- Chr5:112827157
| APC | | Familial adenomatous polyposis 1 | Benign
(Feb 19, 2023) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr5:112179048
- GRCh38:
- Chr5:112843351
| APC | S2586I, S2568I, S2303I, S2495I, S2545I, S2527I, S2596I, S2426I, S2460I, S2485I, S2604I, S2558I, S2561I | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1, Hepatocellular carcinoma,
Desmoid disease, hereditary, Gastric adenocarcinoma and proximal polyposis of the stomach, Colorectal cancer,
Stomach cancer, Familial adenomatous polyposis 1 | Uncertain significance
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112175663
- GRCh38:
- Chr5:112839966
| APC | P1458S, P1440S, P1357S, P1367S, P1430S, P1468S, P1476S, P1175S, P1298S, P1399S, P1433S, P1332S, P1417S | Hepatocellular carcinoma, Desmoid disease, hereditary, Carcinoma of colon,
Familial adenomatous polyposis 1, Neoplasm of stomach, Hereditary cancer-predisposing syndrome,
not provided, Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
| Conflicting interpretations of pathogenicity
(Feb 22, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112178327
- GRCh38:
- Chr5:112842630
| APC | P2346S, P2328S, P2063S, P2220S, P2287S, P2321S, P2255S, P2318S, P2364S, P2186S, P2245S, P2305S, P2356S | APC-Associated Polyposis Disorders, Hepatocellular carcinoma, Desmoid disease, hereditary,
Carcinoma of colon, Familial adenomatous polyposis 1, Neoplasm of stomach,
Hereditary cancer-predisposing syndrome, not specified, not provided,
Familial adenomatous polyposis 1 | Conflicting interpretations of pathogenicity
(Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112178112
- GRCh38:
- Chr5:112842415
| APC | A2274V, A2256V, A1991V, A2249V, A2148V, A2173V, A2292V, A2114V, A2183V, A2215V, A2284V, A2233V, A2246V | APC-Associated Polyposis Disorders, Hereditary cancer-predisposing syndrome, not specified,
not provided, Familial multiple polyposis syndrome, Familial adenomatous polyposis 1,
Hepatocellular carcinoma, Desmoid disease, hereditary, Gastric adenocarcinoma and proximal polyposis of the stomach,
Colorectal cancer, Stomach cancerFamilial adenomatous polyposis 1,
...see more | Benign/Likely benign
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:112178015
- GRCh38:
- Chr5:112842318
| APC | S2242G, S2224G, S2183G, S2252G, S2082G, S2116G, S2151G, S2201G, S2214G, S1959G, S2141G, S2217G, S2260G | Hereditary cancer-predisposing syndrome, APC-Associated Polyposis Disorders, Hepatocellular carcinoma,
Desmoid disease, hereditary, Carcinoma of colon, Familial adenomatous polyposis 1,
Neoplasm of stomach, not specified, not provided,
Familial multiple polyposis syndrome, Familial adenomatous polyposis 1 ...see more | Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:112116562
- GRCh38:
- Chr5:112780865
| APC | Q203E, Q213E, Q144E, Q178E | APC-Associated Polyposis Disorders, Hereditary cancer-predisposing syndrome, not specified,
not provided, Familial multiple polyposis syndrome, Familial adenomatous polyposis 1
| Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |