| - GRCh37:
- Chr14:105246551
- GRCh38:
- Chr14:104780214
| AKT1 | E17K | not provided, Cowden syndrome 6 | Pathogenic
(Jan 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:178936091
- GRCh38:
- Chr3:179218303
| PIK3CA | E545K | Eccrine Angiomatous Hamartoma, PIK3CA related overgrowth syndrome, not provided,
CLOVES syndrome, Segmental undergrowth associated with lymphatic malformation | Pathogenic/Likely pathogenic
(Jan 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:178936094
- GRCh38:
- Chr3:179218306
| PIK3CA | Q546E | Uterine carcinosarcoma, Gastric adenocarcinoma, Neoplasm of uterine cervix,
Prostate adenocarcinoma, Malignant neoplasm of body of uterus, Neoplasm of the large intestine,
Glioblastoma, Breast neoplasm, Neoplasm of brain,
Malignant melanoma of skin, MedulloblastomaSquamous cell carcinoma of the head and neck,
Breast adenocarcinoma, Transitional cell carcinoma of the bladder, ...see more | Pathogenic/Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:178952085
- GRCh38:
- Chr3:179234297
| PIK3CA | H1047L | Colorectal cancer, not provided, Megalencephaly-capillary malformation-polymicrogyria syndrome,
Hemihypertrophy, Cowden syndrome 1, Stroke,
Macrodactyly of toe | Pathogenic
(Apr 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr3:178952085
- GRCh38:
- Chr3:179234297
| PIK3CA | H1047R | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | Pathogenic
(Feb 11, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr12:25398281
- GRCh38:
- Chr12:25245347
| KRAS | G13D | Inborn genetic diseases, Noonan syndrome and Noonan-related syndrome, not provided,
RASopathy, Nevus sebaceous, Non-small cell lung carcinoma
| Conflicting interpretations of pathogenicity
(Jul 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7578479
- GRCh38:
- Chr17:7675161
| TP53 | P151S, P112S, P19S | Hereditary cancer-predisposing syndrome, not provided, Li-Fraumeni syndrome 1,
Li-Fraumeni syndrome | Pathogenic/Likely pathogenic
(Jun 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7578479
- GRCh38:
- Chr17:7675161
| TP53 | P151T, P112T, P19T | Hereditary cancer-predisposing syndrome, not provided, Li-Fraumeni syndrome 1,
Li-Fraumeni syndrome | Pathogenic/Likely pathogenic
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| | SLC22A18 | | Breast adenocarcinoma | Pathogenic
(Mar 31, 1998) | no assertion criteria provided |
| - GRCh37:
- Chr8:53537321-53574220
- GRCh38:
- Chr8:52624761-52661660
| RB1CC1 | | Breast adenocarcinoma | Pathogenic
(Jul 1, 2002) | no assertion criteria provided |
| - GRCh37:
- Chr8:53536328-53598019
- GRCh38:
- Chr8:52623768-52685459
| RB1CC1 | | Breast adenocarcinoma | Pathogenic
(Jul 1, 2002) | no assertion criteria provided |