| - GRCh37:
- Chr17:7577100
- GRCh38:
- Chr17:7673782
| TP53 | R148G, R241G, R280G, R121G | Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome | Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7577099
- GRCh38:
- Chr17:7673781
| TP53 | R148K, R241K, R280K, R121K | Li-Fraumeni syndrome, Squamous cell carcinoma of the head and neck, Hereditary cancer-predisposing syndrome
| Conflicting interpretations of pathogenicity
(Apr 3, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7578268
- GRCh38:
- Chr17:7674950
| TP53 | L155P, L194P, L62P, L35P | Li-Fraumeni syndrome | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7578268
- GRCh38:
- Chr17:7674950
| TP53 | L155H, L194H, L62H, L35H | Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome | Conflicting interpretations of pathogenicity
(Aug 28, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7578268
- GRCh38:
- Chr17:7674950
| TP53 | L155R, L194R, L62R, L35R | Colorectal cancer, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
| Conflicting interpretations of pathogenicity
(Aug 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7578535
- GRCh38:
- Chr17:7675217
| TP53 | K132M, K93M | Li-Fraumeni syndrome | Uncertain significance
(Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7578536
- GRCh38:
- Chr17:7675218
| TP53 | K132Q, K93Q | Li-Fraumeni syndrome | Uncertain significance
(Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7578535
- GRCh38:
- Chr17:7675217
| TP53 | K132T, K93T | Uterine carcinosarcoma, Ovarian serous cystadenocarcinoma, Adrenal cortex carcinoma,
Neoplasm of the large intestine, Glioblastoma, Esophageal carcinoma,
Neoplasm of brain, Multiple myeloma, Squamous cell lung carcinoma,
Lung adenocarcinoma, Squamous cell carcinoma of the head and neckNeoplasm of uterine cervix,
Gastric adenocarcinoma, Transitional cell carcinoma of the bladder, Pancreatic adenocarcinoma,
Breast neoplasm, ...see more | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr17:7578536
- GRCh38:
- Chr17:7675218
| TP53 | K132E, K93E | Li-Fraumeni syndrome, Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome
| Pathogenic/Likely pathogenic
(Jun 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7578535
- GRCh38:
- Chr17:7675217
| TP53 | K132R, K93R | Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome | Pathogenic
(Aug 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7578534
- GRCh38:
- Chr17:7675216
| TP53 | K132N, K93N | Li-Fraumeni syndrome | Likely pathogenic
(Mar 18, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr17:7577569
- GRCh38:
- Chr17:7674251
| TP53 | C106G, C199G, C238G, C79G | Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome | Pathogenic
(Feb 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7577569
- GRCh38:
- Chr17:7674251
| TP53 | C106R, C199R, C238R, C79R | Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
| Pathogenic
(Apr 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7577568
- GRCh38:
- Chr17:7674250
| TP53 | C106S, C199S, C238S, C79S | Hereditary cancer-predisposing syndrome, not provided, Li-Fraumeni syndrome,
Li-Fraumeni syndrome 1 | Pathogenic/Likely pathogenic
(Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7577568
- GRCh38:
- Chr17:7674250
| TP53 | C106F, C199F, C238F, C79F | Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(Feb 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:48591919
- GRCh38:
- Chr18:51065549
| SMAD4 | R361P | Gastric adenocarcinoma, Neoplasm of the large intestine, Esophageal carcinoma,
Lung adenocarcinoma, Squamous cell carcinoma of the head and neck, Neoplasm of uterine cervix,
Pancreatic adenocarcinoma, Breast neoplasm | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr10:89717673
- GRCh38:
- Chr10:87957916
| PTEN | R233Q, R406Q, R36Q | PTEN hamartoma tumor syndrome | Uncertain significance
(Mar 5, 2019) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr10:89692905
- GRCh38:
- Chr10:87933148
| PTEN | R130L, R303L | Hereditary cancer-predisposing syndrome, not provided, Cowden syndrome 1,
PTEN hamartoma tumor syndrome | Pathogenic/Likely pathogenic
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:178921549
- GRCh38:
- Chr3:179203761
| PIK3CA | V344A | Neoplasm of uterine cervix, Malignant neoplasm of body of uterus, Neoplasm of the large intestine,
Glioblastoma, Breast neoplasm, Malignant melanoma of skin,
Non-Hodgkin lymphoma, Squamous cell carcinoma of the head and neck | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:178921548
- GRCh38:
- Chr3:179203760
| PIK3CA | V344M | Cowden syndrome, Cowden syndrome 5, not provided
| Pathogenic
(Mar 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:178921549
- GRCh38:
- Chr3:179203761
| PIK3CA | V344G | Neoplasm of uterine cervix, Malignant neoplasm of body of uterus, Neoplasm of the large intestine,
Breast neoplasm, Glioblastoma, Malignant melanoma of skin,
Neoplasm of ovary, Non-Hodgkin lymphoma, Squamous cell carcinoma of the head and neck
| Likely pathogenic
(Dec 1, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr3:178916725
- GRCh38:
- Chr3:179198937
| PIK3CA | R38G | Malignant neoplasm of body of uterus, Gastric adenocarcinoma, Neoplasm of the large intestine,
Glioblastoma, Neoplasm of uterine cervix, Squamous cell lung carcinoma
| Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:178916726
- GRCh38:
- Chr3:179198938
| PIK3CA | R38L | Malignant neoplasm of body of uterus, Gastric adenocarcinoma, Neoplasm of uterine cervix,
Neoplasm of the large intestine, Glioblastoma, Squamous cell lung carcinoma
| Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:178916725
- GRCh38:
- Chr3:179198937
| PIK3CA | R38S | Malignant neoplasm of body of uterus, Neoplasm of uterine cervix, Gastric adenocarcinoma,
Neoplasm of the large intestine, Glioblastoma, Squamous cell lung carcinoma
| Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:178916725
- GRCh38:
- Chr3:179198937
| PIK3CA | R38C | Cowden syndrome, not provided | Uncertain significance
(May 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:178916726
- GRCh38:
- Chr3:179198938
| PIK3CA | R38H | Malignant neoplasm of body of uterus, Gastric adenocarcinoma, Neoplasm of uterine cervix,
Glioblastoma, Neoplasm of the large intestine, Squamous cell lung carcinoma
| Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:178936096
- GRCh38:
- Chr3:179218308
| PIK3CA | Q546H | Malignant neoplasm of body of uterus, Gastric adenocarcinoma, Uterine carcinosarcoma,
Breast neoplasm, Neoplasm of uterine cervix, Glioblastoma,
Neoplasm of brain, Prostate adenocarcinoma, Neoplasm of the large intestine,
Squamous cell carcinoma of the head and neck, Malignant melanoma of skinMedulloblastoma,
Transitional cell carcinoma of the bladder, ...see more | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:178916945
- GRCh38:
- Chr3:179199157
| PIK3CA | K111R | Malignant neoplasm of body of uterus, Gastric adenocarcinoma, Neoplasm of the large intestine,
Glioblastoma, Breast neoplasm, Neuroblastoma,
Neoplasm of uterine cervix, Neoplasm of brain, Multiple myeloma,
Lung adenocarcinoma, Squamous cell carcinoma of the head and neck ...see more | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:178916946
- GRCh38:
- Chr3:179199158
| PIK3CA | K111N | Cowden syndrome | Uncertain significance
(Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:178916944
- GRCh38:
- Chr3:179199156
| PIK3CA | K111E | Cowden syndrome 5 | Pathogenic
(Nov 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr3:178952086
- GRCh38:
- Chr3:179234298
| PIK3CA | H1047Q | Ovarian serous cystadenocarcinoma, Neoplasm of the large intestine, Malignant neoplasm of body of uterus,
Adrenal cortex carcinoma, Prostate adenocarcinoma, Esophageal carcinoma,
Neoplasm of brain, Hepatocellular carcinoma, Malignant melanoma of skin,
Papillary renal cell carcinoma type 1, Squamous cell carcinoma of the head and neckLung adenocarcinoma,
Squamous cell lung carcinoma, Medulloblastoma, Uterine carcinosarcoma,
Neoplasm of uterine cervix, Gastric adenocarcinoma, Brainstem glioma,
Transitional cell carcinoma of the bladder, Glioblastoma, Pancreatic adenocarcinoma,
Breast neoplasm, ...see more | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:178916929
- GRCh38:
- Chr3:179199141
| PIK3CA | G106R | Uterine carcinosarcoma, Malignant neoplasm of body of uterus, Neoplasm of the large intestine,
Neoplasm of uterine cervix, Squamous cell lung carcinoma, Transitional cell carcinoma of the bladder
| Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:178916930
- GRCh38:
- Chr3:179199142
| PIK3CA | G106V | Cowden syndrome, CLOVES syndrome | Conflicting interpretations of pathogenicity
(Sep 1, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr3:178916854
- GRCh38:
- Chr3:179199066
| PIK3CA | E81K | Cowden syndrome, not provided, CLOVES syndrome
| Pathogenic
(Jun 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:178938935
- GRCh38:
- Chr3:179221147
| PIK3CA | E726A | Neoplasm of the large intestine, Breast neoplasm, Neoplasm of uterine cervix,
Squamous cell carcinoma of the head and neck, Brainstem glioma, Lung adenocarcinoma,
Squamous cell lung carcinoma, Transitional cell carcinoma of the bladder | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:178938934
- GRCh38:
- Chr3:179221146
| PIK3CA | E726K | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | Pathogenic
(Feb 12, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr3:178936083
- GRCh38:
- Chr3:179218295
| PIK3CA | E542G | Inborn genetic diseases, not provided | Likely pathogenic
(Nov 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:178936083
- GRCh38:
- Chr3:179218295
| PIK3CA | E542V | Glioblastoma, Prostate adenocarcinoma, Malignant neoplasm of body of uterus,
Neoplasm of the large intestine, Neoplasm of brain, Lung adenocarcinoma,
Hepatocellular carcinoma, Small cell lung carcinoma, Squamous cell carcinoma of the head and neck,
Squamous cell lung carcinoma, Transitional cell carcinoma of the bladderPapillary renal cell carcinoma, sporadic,
Neoplasm of uterine cervix, Gastric adenocarcinoma, Esophageal carcinoma,
Breast neoplasm, ...see more | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:178936083
- GRCh38:
- Chr3:179218295
| PIK3CA | E542A | Glioblastoma, Malignant neoplasm of body of uterus, Neoplasm of the large intestine,
Prostate adenocarcinoma, Neoplasm of brain, Esophageal carcinoma,
Lung adenocarcinoma, Small cell lung carcinoma, Hepatocellular carcinoma,
Squamous cell lung carcinoma, Squamous cell carcinoma of the head and neckTransitional cell carcinoma of the bladder,
Papillary renal cell carcinoma, sporadic, Neoplasm of uterine cervix, Gastric adenocarcinoma,
Lip and oral cavity carcinoma, Breast neoplasm, ...see more | Pathogenic/Likely pathogenic
(Apr 30, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr2:178098808
- GRCh38:
- Chr2:177234080
| NFE2L2 | E63D, E79D, R3I | Neoplasm of uterine cervix, Hepatocellular carcinoma, Squamous cell lung carcinoma,
Lung adenocarcinoma, Squamous cell carcinoma of the head and neck, Transitional cell carcinoma of the bladder
| Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr2:178098809
- GRCh38:
- Chr2:177234081
| NFE2L2 | E63V, E79V, R3* | Neoplasm of uterine cervix, Hepatocellular carcinoma, Squamous cell lung carcinoma,
Lung adenocarcinoma, Squamous cell carcinoma of the head and neck, Transitional cell carcinoma of the bladder
| Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr2:178098810
- GRCh38:
- Chr2:177234082
| NFE2L2 | E63K, E79K | Neoplasm of uterine cervix, Immunodeficiency, developmental delay, and hypohomocysteinemia, Hepatocellular carcinoma,
Squamous cell lung carcinoma, Lung adenocarcinoma, Squamous cell carcinoma of the head and neck,
Transitional cell carcinoma of the bladder | Pathogenic/Likely pathogenic
(Aug 28, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr2:178098810
- GRCh38:
- Chr2:177234082
| NFE2L2 | E63Q, E79Q, K2N | Neoplasm of uterine cervix, Hepatocellular carcinoma, Squamous cell lung carcinoma,
Lung adenocarcinoma, Squamous cell carcinoma of the head and neck, Transitional cell carcinoma of the bladder
| Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr2:178098959
- GRCh38:
- Chr2:177234231
| NFE2L2 | D13G, D29G | Malignant neoplasm of body of uterus, Neoplasm of uterine cervix, Squamous cell lung carcinoma,
Lung adenocarcinoma, Squamous cell carcinoma of the head and neck, Transitional cell carcinoma of the bladder,
Papillary renal cell carcinoma type 1 | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr2:178098960
- GRCh38:
- Chr2:177234232
| NFE2L2 | D13N, D29N | Malignant neoplasm of body of uterus, Neoplasm of uterine cervix, Papillary renal cell carcinoma type 1,
Lung adenocarcinoma, Transitional cell carcinoma of the bladder, Squamous cell lung carcinoma,
Squamous cell carcinoma of the head and neck | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr2:178098960
- GRCh38:
- Chr2:177234232
| NFE2L2 | D13Y, D29Y | Malignant neoplasm of body of uterus, Neoplasm of uterine cervix, Squamous cell lung carcinoma,
Squamous cell carcinoma of the head and neck, Transitional cell carcinoma of the bladder, Lung adenocarcinoma,
Papillary renal cell carcinoma type 1 | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr2:178098960
- GRCh38:
- Chr2:177234232
| NFE2L2 | D13H, D29H | Neoplasm of uterine cervix, Malignant neoplasm of body of uterus, Squamous cell lung carcinoma,
Squamous cell carcinoma of the head and neck, Papillary renal cell carcinoma type 1, Transitional cell carcinoma of the bladder,
Lung adenocarcinoma | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr1:11184574
- GRCh38:
- Chr1:11124517
| MTOR | S2215T | Neoplasm of uterine cervix, Neoplasm of the large intestine, Papillary renal cell carcinoma, sporadic,
Malignant neoplasm of body of uterus, Glioblastoma, Malignant melanoma of skin,
Papillary renal cell carcinoma type 1 | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr22:22127164
- GRCh38:
- Chr22:21772875
| MAPK1 | E322K | Transitional cell carcinoma of the bladder, Neoplasm of uterine cervix, Squamous cell carcinoma of the head and neck
| Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr11:534285
- GRCh38:
- Chr11:534285
| LRRC56, HRAS | G13A | Malignant neoplasm of body of uterus, Neoplasm of the large intestine, Chronic lymphatic leukemia,
Multiple myeloma, Lung adenocarcinoma, Hepatocellular carcinoma,
Acute myeloid leukemia, Neoplasm of uterine cervix, Gastric adenocarcinoma,
Pancreatic adenocarcinoma | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr11:533467
- GRCh38:
- Chr11:533467
| HRAS, LRRC56 | A146P | Multiple myeloma, Neoplasm of uterine cervix, Gastric adenocarcinoma,
Neoplasm of the large intestine, Acute myeloid leukemia, Lung adenocarcinoma
| Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr4:153244184
- GRCh38:
- Chr4:152323032
| FBXW7 | R658Q, R540Q, R578Q | Neoplasm of uterine cervix, Uterine carcinosarcoma, Malignant neoplasm of body of uterus,
Neoplasm of the large intestine, Glioblastoma, Malignant melanoma of skin,
Squamous cell carcinoma of the head and neck, Transitional cell carcinoma of the bladder | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr4:153247289
- GRCh38:
- Chr4:152326137
| FBXW7 | R505S, R387S, R425S | Uterine carcinosarcoma, Ovarian serous cystadenocarcinoma, Malignant neoplasm of body of uterus,
Gastric adenocarcinoma, Neoplasm of the large intestine, Esophageal carcinoma,
Chronic lymphatic leukemia, Malignant melanoma of skin, Squamous cell lung carcinoma,
Squamous cell carcinoma of the head and neck, Neoplasm of uterine cervixTransitional cell carcinoma of the bladder,
...see more | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr4:153247288
- GRCh38:
- Chr4:152326136
| FBXW7 | R505H, R387H, R425H | not provided | Uncertain significance
(Feb 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:153247288
- GRCh38:
- Chr4:152326136
| FBXW7 | R505L, R387L, R425L | Uterine carcinosarcoma, Ovarian serous cystadenocarcinoma, Neoplasm of the large intestine,
Malignant neoplasm of body of uterus, Chronic lymphatic leukemia, Malignant melanoma of skin,
Squamous cell lung carcinoma, Squamous cell carcinoma of the head and neck, Neoplasm of uterine cervix,
Gastric adenocarcinoma, Transitional cell carcinoma of the bladderEsophageal carcinoma,
...see more | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr4:153247289
- GRCh38:
- Chr4:152326137
| FBXW7 | R505G, R387G, R425G | Uterine carcinosarcoma, Malignant neoplasm of body of uterus, Ovarian serous cystadenocarcinoma,
Neoplasm of the large intestine, Esophageal carcinoma, Chronic lymphatic leukemia,
Malignant melanoma of skin, Squamous cell lung carcinoma, Squamous cell carcinoma of the head and neck,
Transitional cell carcinoma of the bladder, Neoplasm of uterine cervixGastric adenocarcinoma,
...see more | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr4:153247367
- GRCh38:
- Chr4:152326215
| FBXW7 | R479G, R361G, R399G | Uterine carcinosarcoma, Malignant neoplasm of body of uterus, Neoplasm of the large intestine,
Papillary renal cell carcinoma, sporadic, Breast neoplasm, Neoplasm of uterine cervix,
Glioblastoma, Gastric adenocarcinoma, Malignant melanoma of skin,
Squamous cell carcinoma of the head and neck, Transitional cell carcinoma of the bladderSquamous cell lung carcinoma,
...see more | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr4:153247366
- GRCh38:
- Chr4:152326214
| FBXW7 | R479L, R361L, R399L | Uterine carcinosarcoma, Papillary renal cell carcinoma, sporadic, Neoplasm of uterine cervix,
Malignant neoplasm of body of uterus, Neoplasm of the large intestine, Breast neoplasm,
Glioblastoma, Gastric adenocarcinoma, Malignant melanoma of skin,
Squamous cell lung carcinoma, Squamous cell carcinoma of the head and neckTransitional cell carcinoma of the bladder,
...see more | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr4:153247366
- GRCh38:
- Chr4:152326214
| FBXW7 | R479P, R361P, R399P | Uterine carcinosarcoma, Malignant neoplasm of body of uterus, Neoplasm of the large intestine,
Papillary renal cell carcinoma, sporadic, Gastric adenocarcinoma, Glioblastoma,
Breast neoplasm, Malignant melanoma of skin, Neoplasm of uterine cervix,
Squamous cell carcinoma of the head and neck, Squamous cell lung carcinomaTransitional cell carcinoma of the bladder,
...see more | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr4:153247366
- GRCh38:
- Chr4:152326214
| FBXW7 | R479Q, R361Q, R399Q | Malignant neoplasm of body of uterus, Uterine carcinosarcoma, Papillary renal cell carcinoma, sporadic,
Breast neoplasm, Neoplasm of uterine cervix, Neoplasm of the large intestine,
Gastric adenocarcinoma, Glioblastoma, Squamous cell lung carcinoma,
Malignant melanoma of skin, Squamous cell carcinoma of the head and neckTransitional cell carcinoma of the bladder,
...see more | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr4:153249385
- GRCh38:
- Chr4:152328233
| FBXW7 | R465G, R347G, R385G | Uterine carcinosarcoma, Ovarian serous cystadenocarcinoma, Neoplasm of the large intestine,
Adenoid cystic carcinoma, Malignant neoplasm of body of uterus, Chronic lymphatic leukemia,
Esophageal carcinoma, Squamous cell lung carcinoma, Lung adenocarcinoma,
Medulloblastoma, Squamous cell carcinoma of the head and neckNeoplasm of uterine cervix,
Gastric adenocarcinoma, Breast neoplasm, ...see more | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr4:153249384
- GRCh38:
- Chr4:152328232
| FBXW7 | R465L, R347L, R385L | Ovarian serous cystadenocarcinoma, Neoplasm of the large intestine, Adenoid cystic carcinoma,
Malignant neoplasm of body of uterus, Chronic lymphatic leukemia, Lung adenocarcinoma,
Squamous cell lung carcinoma, Medulloblastoma, Squamous cell carcinoma of the head and neck,
Uterine carcinosarcoma, Neoplasm of uterine cervixGastric adenocarcinoma,
Esophageal carcinoma, Breast neoplasm, ...see more | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr4:153249384
- GRCh38:
- Chr4:152328232
| FBXW7 | R465P, R347P, R385P | Uterine carcinosarcoma, Ovarian serous cystadenocarcinoma, Malignant neoplasm of body of uterus,
Neoplasm of the large intestine, Esophageal carcinoma, Chronic lymphatic leukemia,
Lung adenocarcinoma, Medulloblastoma, Squamous cell lung carcinoma,
Squamous cell carcinoma of the head and neck, Neoplasm of uterine cervixAdenoid cystic carcinoma,
Gastric adenocarcinoma, Breast neoplasm, ...see more | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr4:153249384
- GRCh38:
- Chr4:152328232
| FBXW7 | R465H, R347H, R385H | Uterine carcinosarcoma, Ovarian serous cystadenocarcinoma, Neoplasm of the large intestine,
Malignant neoplasm of body of uterus, Adenoid cystic carcinoma, Chronic lymphatic leukemia,
Esophageal carcinoma, Lung adenocarcinoma, Medulloblastoma,
Squamous cell lung carcinoma, Squamous cell carcinoma of the head and neckNeoplasm of uterine cervix,
Gastric adenocarcinoma, Breast neoplasm, ...see more | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr4:153249385
- GRCh38:
- Chr4:152328233
| FBXW7 | R465C, R347C, R385C | not provided | Pathogenic
(Oct 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:56478854
- GRCh38:
- Chr12:56085070
| ERBB3 | V104L | Gallbladder carcinoma, Malignant neoplasm of body of uterus, Uterine carcinosarcoma,
Neoplasm of uterine cervix, Gastric adenocarcinoma, Breast neoplasm,
Neoplasm of the large intestine, Transitional cell carcinoma of the bladder | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr12:56478854
- GRCh38:
- Chr12:56085070
| ERBB3 | V104M | Transitional cell carcinoma of the bladder, Malignant tumor of urinary bladder, Uterine carcinosarcoma,
Gallbladder carcinoma, Malignant neoplasm of body of uterus, Neoplasm of uterine cervix,
Gastric adenocarcinoma, Neoplasm of the large intestine, Breast neoplasm
| Pathogenic/Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr17:37880261
- GRCh38:
- Chr17:39724008
| ERBB2 | D739N, D754N, D769N, D423N, D493N, D683N, D709N, D753N, D755N, D757N, D766N, D768N, D776N, D779N, D794N, D796N, D803N, D808N | Gastric adenocarcinoma, Esophageal carcinoma, Transitional cell carcinoma of the bladder,
Neoplasm of uterine cervix, Breast neoplasm | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr22:41565529
- GRCh38:
- Chr22:41169525
| EP300 | D1399Y, D1373Y | Medulloblastoma, Squamous cell lung carcinoma, Squamous cell carcinoma of the head and neck,
Neoplasm of uterine cervix, Transitional cell carcinoma of the bladder, Esophageal carcinoma
| Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr22:41565529
- GRCh38:
- Chr22:41169525
| EP300 | D1399N, D1373N | Esophageal carcinoma, Squamous cell lung carcinoma, Medulloblastoma,
Squamous cell carcinoma of the head and neck, Transitional cell carcinoma of the bladder, Neoplasm of uterine cervix
| Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr16:3788618
- GRCh38:
- Chr16:3738617
| CREBBP | R1446G, R1408G | Adenoid cystic carcinoma, Gastric adenocarcinoma, Neoplasm of uterine cervix,
Neoplasm of the large intestine, Glioblastoma, Malignant melanoma of skin,
Hepatocellular carcinoma, Squamous cell lung carcinoma, Medulloblastoma,
Squamous cell carcinoma of the head and neck, Transitional cell carcinoma of the bladder ...see more | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr16:3788617
- GRCh38:
- Chr16:3738616
| CREBBP | R1446H, R1408H | Neoplasm of uterine cervix, Adenoid cystic carcinoma, Gastric adenocarcinoma,
Neoplasm of the large intestine, Glioblastoma, Malignant melanoma of skin,
Hepatocellular carcinoma, Squamous cell lung carcinoma, Medulloblastoma,
Squamous cell carcinoma of the head and neck, Transitional cell carcinoma of the bladder ...see more | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr16:3788617
- GRCh38:
- Chr16:3738616
| CREBBP | R1446L, R1408L | Adenoid cystic carcinoma, Gastric adenocarcinoma, Neoplasm of uterine cervix,
Neoplasm of the large intestine, Glioblastoma, Malignant melanoma of skin,
Hepatocellular carcinoma, Squamous cell lung carcinoma, Squamous cell carcinoma of the head and neck,
Medulloblastoma, Transitional cell carcinoma of the bladder ...see more | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:178936082
- GRCh38:
- Chr3:179218294
| PIK3CA | E542Q | Malignant neoplasm of body of uterus, Neoplasm of the large intestine, Prostate adenocarcinoma,
Gastric adenocarcinoma, Neoplasm of brain, Neoplasm of ovary,
Non-small cell lung carcinoma, Small cell lung carcinoma, Hepatocellular carcinoma,
Squamous cell lung carcinoma, Lung adenocarcinomaSquamous cell carcinoma of the head and neck,
Transitional cell carcinoma of the bladder, Papillary renal cell carcinoma, sporadic, Neoplasm of uterine cervix,
Glioblastoma, Esophageal carcinoma, Breast neoplasm,
...see more | Pathogenic/Likely pathogenic
(Dec 1, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266112
- GRCh38:
- Chr3:41224621
| LOC126806658, CTNNB1 | S37A, S30A | Neoplasm of the parathyroid gland, Malignant neoplasm of body of uterus, Prostate adenocarcinoma,
Esophageal carcinoma, Lung adenocarcinoma, Hepatocellular carcinoma,
Medulloblastoma, Neoplasm of uterine cervix, Gastric adenocarcinoma,
Transitional cell carcinoma of the bladder | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266112
- GRCh38:
- Chr3:41224621
| CTNNB1, LOC126806658 | S37P, S30P | Malignant neoplasm of body of uterus, Prostate adenocarcinoma, Neoplasm of stomach,
Hepatocellular carcinoma, Lung adenocarcinoma, Medulloblastoma,
Neoplasm of uterine cervix, Gastric adenocarcinoma, Transitional cell carcinoma of the bladder,
Esophageal carcinoma | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266098
- GRCh38:
- Chr3:41224607
| LOC126806658, CTNNB1 | D32V, D25V | Prostate adenocarcinoma, Gastric adenocarcinoma, Neoplasm of uterine cervix,
Endometrial neoplasm, Malignant neoplasm of body of uterus, Malignant melanoma of skin,
Hepatocellular carcinoma, Medulloblastoma, Transitional cell carcinoma of the bladder
| Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266098
- GRCh38:
- Chr3:41224607
| CTNNB1, LOC126806658 | D32A, D25A | Neoplasm of uterine cervix, Melanoma, Gastric adenocarcinoma,
Prostate adenocarcinoma, Malignant neoplasm of body of uterus, Malignant melanoma of skin,
Hepatocellular carcinoma, Medulloblastoma, Transitional cell carcinoma of the bladder
| Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266097
- GRCh38:
- Chr3:41224606
| CTNNB1, LOC126806658 | D32N, D25N | Juvenile nasopharyngeal angiofibroma | Pathogenic
(Jul 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:37868208
- GRCh38:
- Chr17:39711955
| ERBB2 | S280F, S295F, S310F, S224F, S250F, S307F, S335F, S34F | Gastric adenocarcinoma, Neoplasm of the large intestine, Neoplasm,
Breast neoplasm, Neoplasm of uterine cervix, Ovarian serous cystadenocarcinoma,
Squamous cell carcinoma of the head and neck, Transitional cell carcinoma of the bladder, Lung adenocarcinoma,
Squamous cell carcinoma of the skin | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr17:37868208
- GRCh38:
- Chr17:39711955
| ERBB2 | S280Y, S295Y, S310Y, S224Y, S250Y, S307Y, S335Y, S34Y | not provided | Pathogenic
(Dec 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:11184573
- GRCh38:
- Chr1:11124516
| MTOR | S2215Y | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | Pathogenic
(Feb 17, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr3:41266097
- GRCh38:
- Chr3:41224606
| CTNNB1, LOC126806658 | D32H, D25H | Neoplasm of uterine cervix, Prostate adenocarcinoma, Malignant neoplasm of body of uterus,
Gastric adenocarcinoma, Malignant melanoma of skin, Medulloblastoma,
Melanoma, Hepatocellular carcinoma, Transitional cell carcinoma of the bladder
| Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr21:44524456
- GRCh38:
- Chr21:43104346
| U2AF1 | S34Y | Uterine carcinosarcoma, Malignant neoplasm of body of uterus, Neoplasm of uterine cervix,
Pancreatic adenocarcinoma, Myelodysplastic syndrome, Acute myeloid leukemia,
Squamous cell carcinoma of the head and neck, Lung adenocarcinoma, Transitional cell carcinoma of the bladder
| Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr21:44524456
- GRCh38:
- Chr21:43104346
| U2AF1 | S34F | Uterine carcinosarcoma, Malignant neoplasm of body of uterus, Pancreatic adenocarcinoma,
Neoplasm of uterine cervix, Myelodysplastic syndrome, Lung adenocarcinoma,
Acute myeloid leukemia, Transitional cell carcinoma of the bladder, Squamous cell carcinoma of the head and neck
| Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr17:37880261
- GRCh38:
- Chr17:39724008
| ERBB2 | D739Y, D754Y, D769Y, D423Y, D493Y, D683Y, D709Y, D753Y, D755Y, D757Y, D766Y, D768Y, D776Y, D779Y, D794Y, D796Y, D803Y, D808Y | Esophageal carcinoma, Transitional cell carcinoma of the bladder, Neoplasm of uterine cervix,
Gastric adenocarcinoma, Breast neoplasm | Pathogenic/Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr17:37880261
- GRCh38:
- Chr17:39724008
| ERBB2 | D739H, D754H, D769H, D423H, D493H, D683H, D709H, D753H, D755H, D757H, D766H, D768H, D776H, D779H, D794H, D796H, D803H, D808H | Esophageal carcinoma, Transitional cell carcinoma of the bladder, Neoplasm of uterine cervix,
Gastric adenocarcinoma, Breast neoplasm | Pathogenic/Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr10:89692904
- GRCh38:
- Chr10:87933147
| PTEN | R130G, R303G | PTEN hamartoma tumor syndrome | Pathogenic
(Jun 25, 2019) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr3:178936095
- GRCh38:
- Chr3:179218307
| PIK3CA | Q546L | Malignant neoplasm of body of uterus, Gastric adenocarcinoma, Uterine carcinosarcoma,
Breast neoplasm, Neoplasm of uterine cervix, Neoplasm of the large intestine,
Prostate adenocarcinoma, Glioblastoma, Neoplasm of brain,
Malignant melanoma of skin, Transitional cell carcinoma of the bladderMedulloblastoma,
Squamous cell carcinoma of the head and neck, ...see more | Pathogenic/Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:178936095
- GRCh38:
- Chr3:179218307
| PIK3CA | Q546P | Malignant neoplasm of body of uterus, Neoplasm of brain, Malignant melanoma of skin,
Uterine carcinosarcoma, Gastric adenocarcinoma, Breast neoplasm,
Neoplasm of uterine cervix, Neoplasm of ovary, Prostate adenocarcinoma,
Neoplasm of the large intestine, GlioblastomaTransitional cell carcinoma of the bladder,
Medulloblastoma, Squamous cell carcinoma of the head and neck, ...see more | Pathogenic/Likely pathogenic
(Dec 1, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr3:178936091
- GRCh38:
- Chr3:179218303
| PIK3CA | E545Q | Head and neck neoplasm, Gallbladder carcinoma, Uterine carcinosarcoma,
Malignant neoplasm of body of uterus, Neoplasia of the nasopharynx, Ovarian serous cystadenocarcinoma,
Neoplasm of the large intestine, Prostate adenocarcinoma, Neoplasm of brain,
Glioblastoma, Esophageal carcinomaMalignant melanoma of skin,
Lung adenocarcinoma, Non-small cell lung carcinoma, Hepatocellular carcinoma,
Papillary renal cell carcinoma type 1, Small cell lung carcinoma, Squamous cell carcinoma of the head and neck,
Squamous cell lung carcinoma, Brainstem glioma, Transitional cell carcinoma of the bladder,
Papillary renal cell carcinoma, sporadic, Neoplasm of uterine cervix, Gastric adenocarcinoma,
Pancreatic adenocarcinoma, Histone Methylation Therapy response, Breast neoplasm,
...see more | Pathogenic/Likely pathogenic; drug response
(Nov 27, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266113
- GRCh38:
- Chr3:41224622
| CTNNB1, LOC126806658 | S37Y, S30Y | Malignant neoplasm of body of uterus, Prostate adenocarcinoma, Gastric adenocarcinoma,
Neoplasm of stomach, Medulloblastoma, Hepatocellular carcinoma,
Lung adenocarcinoma, Melanoma, Neoplasm of uterine cervix,
Transitional cell carcinoma of the bladder, Esophageal carcinoma ...see more | Pathogenic/Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:178936092
- Chr3:178936116-178936117
- GRCh38:
- Chr3:179218304
- Chr3:179218328-179218329
| PIK3CA, PIK3CA | E545A, S553fs | Cowden syndrome 5 | Pathogenic
(Jan 10, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr3:178936093
- GRCh38:
- Chr3:179218305
| PIK3CA | E545D | Megalencephaly-capillary malformation-polymicrogyria syndrome, Cowden syndrome | Pathogenic/Likely pathogenic
(Jun 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:57484421
- GRCh38:
- Chr20:58909366
| GNAS | R201L, R202L, R844L, R142L, R186L, R187L | Adrenal cortex carcinoma, Gastric adenocarcinoma, Neoplasm of uterine cervix,
Neoplasm of the large intestine, Pancreatic adenocarcinoma, Neoplasm,
Malignant melanoma of skin, Squamous cell carcinoma of the head and neck, Breast neoplasm,
Hepatocellular carcinoma, Lung adenocarcinoma ...see more | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr17:7577568
- GRCh38:
- Chr17:7674250
| TP53 | C106Y, C199Y, C238Y, C79Y | not provided, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome,
Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:534285
- GRCh38:
- Chr11:534285
| HRAS, LRRC56 | G13V | Costello syndrome, not provided | Pathogenic
(Mar 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7577099
- GRCh38:
- Chr17:7673781
| TP53 | R148I, R241I, R280I, R121I | Li-Fraumeni syndrome | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:11184573
- GRCh38:
- Chr1:11124516
| MTOR | S2215F | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | Pathogenic
(Feb 12, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr3:178917478
- GRCh38:
- Chr3:179199690
| PIK3CA | G118D | Cowden syndrome, Angioosteohypertrophic syndrome, not provided
| Pathogenic
(Jun 7, 2022) | criteria provided, multiple submitters, no conflicts |