| - GRCh37:
- Chr17:7578191
- GRCh38:
- Chr17:7674873
| TP53 | Y181D, Y220D, Y88D, Y61D | Li-Fraumeni syndrome | Uncertain significance
(Oct 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7578191
- GRCh38:
- Chr17:7674873
| TP53 | Y181N, Y220N, Y88N, Y61N | not provided, Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
| Conflicting interpretations of pathogenicity
(Sep 29, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7578191
- GRCh38:
- Chr17:7674873
| TP53 | Y181H, Y220H, Y88H, Y61H | Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome | Pathogenic
(Aug 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7578443
- GRCh38:
- Chr17:7675125
| TP53 | Y124H, Y163H, Y31H, Y4H | Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome
| Conflicting interpretations of pathogenicity
(Aug 23, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7578443
- GRCh38:
- Chr17:7675125
| TP53 | Y124N, Y163N, Y31N, Y4N | Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome | Conflicting interpretations of pathogenicity
(Nov 5, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7577118
- GRCh38:
- Chr17:7673800
| TP53 | V142L, V235L, V274L, V115L | Li-Fraumeni syndrome | Uncertain significance
(Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7577117
- GRCh38:
- Chr17:7673799
| TP53 | V142A, V235A, V274A, V115A | Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome | Conflicting interpretations of pathogenicity
(Aug 13, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7577117
- GRCh38:
- Chr17:7673799
| TP53 | V142G, V235G, V274G, V115G | Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome | Conflicting interpretations of pathogenicity
(Aug 13, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7577117
- GRCh38:
- Chr17:7673799
| TP53 | V142D, V235D, V274D, V115D | Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome | Conflicting interpretations of pathogenicity
(Feb 3, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7577118
- GRCh38:
- Chr17:7673800
| TP53 | V142F, V235F, V274F, V115F | Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome | Conflicting interpretations of pathogenicity
(Nov 19, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7578412
- GRCh38:
- Chr17:7675094
| TP53 | V134E, V173E, V41E, V14E | Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity
(Apr 28, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7578413
- GRCh38:
- Chr17:7675095
| TP53 | V134L, V173L, V41L, V14L | not provided, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1,
Li-Fraumeni syndrome | Pathogenic/Likely pathogenic
(Aug 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7579313
- GRCh38:
- Chr17:7675995
| TP53 | T125R, T86R | Li-Fraumeni syndrome, Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome
| Pathogenic/Likely pathogenic
(Jul 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7579314
- GRCh38:
- Chr17:7675996
| TP53 | T125P, T86P | Li-Fraumeni syndrome | Uncertain significance
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7577560
- GRCh38:
- Chr17:7674242
| TP53 | S109A, S202A, S241A, S82A | Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome | Pathogenic
(Feb 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7577560
- GRCh38:
- Chr17:7674242
| TP53 | S109P, S202P, S241P, S82P | Li-Fraumeni syndrome | Uncertain significance
(Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7577559
- GRCh38:
- Chr17:7674241
| TP53 | S109Y, S202Y, S241Y, S82Y | not provided, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1,
Li-Fraumeni syndrome | Pathogenic
(Mar 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7577093
- GRCh38:
- Chr17:7673775
| TP53 | R150P, R243P, R282P, R123P | Li-Fraumeni syndrome 1, Basal cell carcinoma, susceptibility to, 7, Bone marrow failure syndrome 5,
Adrenocortical carcinoma, hereditary, Carcinoma of pancreas, Familial cancer of breast,
Glioma susceptibility 1, Bone osteosarcoma, Colorectal cancer,
Nasopharyngeal carcinoma, Choroid plexus papillomaHepatocellular carcinoma,
Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1,
Squamous cell carcinoma of the head and neck, ...see more | Pathogenic/Likely pathogenic
(Aug 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - 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:
- Chr17:7577121
- GRCh38:
- Chr17:7673803
| TP53 | R141S, R234S, R273S, R114S | Li-Fraumeni syndrome 1, Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
| Pathogenic
(Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7577120
- GRCh38:
- Chr17:7673802
| TP53 | R141L, R234L, R273L, R114L | Li-Fraumeni syndrome 1, Basal cell carcinoma, susceptibility to, 7, Bone marrow failure syndrome 5,
Adrenocortical carcinoma, hereditary, Carcinoma of pancreas, Familial cancer of breast,
Glioma susceptibility 1, Bone osteosarcoma, Colorectal cancer,
Nasopharyngeal carcinoma, Choroid plexus papillomaHepatocellular carcinoma,
not provided, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1,
Hereditary cancer-predisposing syndrome, ...see more | Pathogenic
(Jan 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7577539
- GRCh38:
- Chr17:7674221
| TP53 | R116G, R209G, R248G, R89G | Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome, Carcinoma of colon
| Pathogenic/Likely pathogenic
(Aug 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7578212
- GRCh38:
- Chr17:7674894
| TP53 | R174G, R213G, R81G, R54G | Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome | Conflicting interpretations of pathogenicity
(Aug 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7578211
- GRCh38:
- Chr17:7674893
| TP53 | R174L, R213L, R81L, R54L | Li-Fraumeni syndrome | Uncertain significance
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7578407
- GRCh38:
- Chr17:7675089
| TP53 | R136G, R175G, R43G, R16G | Hereditary cancer-predisposing syndrome, not provided, Li-Fraumeni syndrome 1,
Li-Fraumeni syndrome | Pathogenic
(Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7577105
- GRCh38:
- Chr17:7673787
| TP53 | P146H, P239H, P278H, P119H | Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
| Uncertain significance
(Jun 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7577106
- GRCh38:
- Chr17:7673788
| TP53 | P146A, P239A, P278A, P119A | Hereditary cancer-predisposing syndrome, not provided, Li-Fraumeni syndrome
| Conflicting interpretations of pathogenicity
(Aug 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7577105
- GRCh38:
- Chr17:7673787
| TP53 | P146R, P239R, P278R, P119R | Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome
| Conflicting interpretations of pathogenicity
(Jul 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7577106
- GRCh38:
- Chr17:7673788
| TP53 | P146T, P239T, P278T, P119T | Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome | Pathogenic
(Oct 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7577106
- GRCh38:
- Chr17:7673788
| TP53 | P146S, P239S, P278S, P119S | Hereditary cancer-predisposing syndrome, not provided, Li-Fraumeni syndrome
| Conflicting interpretations of pathogenicity
(Jan 5, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7578479
- GRCh38:
- Chr17:7675161
| TP53 | P112A, P151A, P19A | Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome | Pathogenic
(Apr 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7578478
- GRCh38:
- Chr17:7675160
| TP53 | P112R, P151R, P19R | Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome | Pathogenic/Likely pathogenic
(Nov 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7578478
- GRCh38:
- Chr17:7675160
| TP53 | P112H, P151H, P19H | Li-Fraumeni syndrome | Uncertain significance
(May 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7579355
- GRCh38:
- Chr17:7676037
| TP53 | L111Q, L72Q | Li-Fraumeni syndrome | Uncertain significance
(Aug 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7579355
- GRCh38:
- Chr17:7676037
| TP53 | L111R, L72R | Gastric adenocarcinoma, Chronic lymphatic leukemia, Esophageal carcinoma,
Malignant melanoma of skin, Hepatocellular carcinoma, Squamous cell lung carcinoma,
Glioblastoma, Breast neoplasm | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr17:7579355
- GRCh38:
- Chr17:7676037
| TP53 | L111P, L72P | not provided, Li-Fraumeni syndrome | Conflicting interpretations of pathogenicity
(Apr 6, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7578394
- GRCh38:
- Chr17:7675076
| TP53 | H140P, H179P, H47P, H20P | Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity
(Oct 4, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7578395
- GRCh38:
- Chr17:7675077
| TP53 | H140D, H179D, H47D, H20D | not specified, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome,
Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7578395
- GRCh38:
- Chr17:7675077
| TP53 | H140N, H179N, H47N, H20N | not provided, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
| Conflicting interpretations of pathogenicity
(Jun 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7578394
- GRCh38:
- Chr17:7675076
| TP53 | H140L, H179L, H47L, H20L | Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome | Conflicting interpretations of pathogenicity
(Jun 13, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7578393
- GRCh38:
- Chr17:7675075
| TP53 | H140Q, H179Q, H47Q, H20Q | not provided, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome,
Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7578394
- GRCh38:
- Chr17:7675076
| TP53 | H140R, H179R, H47R, H20R | Hereditary cancer-predisposing syndrome, not provided, Li-Fraumeni syndrome
| Conflicting interpretations of pathogenicity
(Jun 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7577142
- GRCh38:
- Chr17:7673824
| TP53 | G134R, G227R, G266R, G107R | Li-Fraumeni syndrome, Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome
| Pathogenic
(Jun 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7577081
- GRCh38:
- Chr17:7673763
| TP53 | E154A, E247A, E286A, E127A | Ovarian serous cystadenocarcinoma, Neoplasm of the large intestine, Gastric adenocarcinoma,
Esophageal carcinoma, Pancreatic adenocarcinoma, Neoplasm of brain,
Malignant melanoma of skin, Acute myeloid leukemia, Hepatocellular carcinoma,
Small cell lung carcinoma, Lung adenocarcinomaSquamous cell carcinoma of the head and neck,
Transitional cell carcinoma of the bladder, Squamous cell carcinoma of the skin, Breast neoplasm,
...see more | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr17:7577081
- GRCh38:
- Chr17:7673763
| TP53 | E154V, E247V, E286V, E127V | Ovarian serous cystadenocarcinoma, Gastric adenocarcinoma, Neoplasm of the large intestine,
Neoplasm of brain, Malignant melanoma of skin, Acute myeloid leukemia,
Hepatocellular carcinoma, Small cell lung carcinoma, Lung adenocarcinoma,
Squamous cell carcinoma of the head and neck, Squamous cell carcinoma of the skinTransitional cell carcinoma of the bladder,
Esophageal carcinoma, Pancreatic adenocarcinoma, Breast neoplasm,
...see more | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr17:7577082
- GRCh38:
- Chr17:7673764
| TP53 | E154Q, E247Q, E286Q, E127Q | Li-Fraumeni syndrome | Uncertain significance
(Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7577081
- GRCh38:
- Chr17:7673763
| TP53 | E154G, E247G, E286G, E127G | Li-Fraumeni syndrome | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7577096
- GRCh38:
- Chr17:7673778
| TP53 | D149A, D242A, D281A, D122A | Uterine carcinosarcoma, Ovarian serous cystadenocarcinoma, Malignant neoplasm of body of uterus,
Chronic lymphatic leukemia, Neuroblastoma, Multiple myeloma,
Malignant melanoma of skin, Hepatocellular carcinoma, Papillary renal cell carcinoma type 1,
Squamous cell lung carcinoma, Lung adenocarcinomaSquamous cell carcinoma of the head and neck,
Gastric adenocarcinoma, Squamous cell carcinoma of the skin, Transitional cell carcinoma of the bladder,
Glioblastoma, Pancreatic adenocarcinoma, Breast neoplasm,
...see more | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr17:7577097
- GRCh38:
- Chr17:7673779
| TP53 | D149H, D242H, D281H, D122H | Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome | Conflicting interpretations of pathogenicity
(Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7577095
- GRCh38:
- Chr17:7673777
| TP53 | D149E, D242E, D281E, D122E | Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome | Uncertain significance
(May 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7577097
- GRCh38:
- Chr17:7673779
| TP53 | D149N, D242N, D281N, D122N | Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome | Pathogenic
(Jun 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7577097
- GRCh38:
- Chr17:7673779
| TP53 | D149Y, D242Y, D281Y, D122Y | Li-Fraumeni syndrome | Pathogenic
(Mar 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:7577115
- GRCh38:
- Chr17:7673797
| TP53 | C143R, C236R, C275R, C116R | Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome | Conflicting interpretations of pathogenicity
(Aug 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7577114
- GRCh38:
- Chr17:7673796
| TP53 | C143S, C236S, C275S, C116S | Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome | Conflicting interpretations of pathogenicity
(Feb 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7577114
- GRCh38:
- Chr17:7673796
| TP53 | C143F, C236F, C275F, C116F | Li-Fraumeni syndrome | Pathogenic
(May 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:198267484
- GRCh38:
- Chr2:197402760
| SF3B1 | R625G | Adenoid cystic carcinoma, Chronic lymphatic leukemia, Malignant melanoma of skin,
Transitional cell carcinoma of the bladder | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr2:198267484
- GRCh38:
- Chr2:197402760
| SF3B1 | R625C | Chronic lymphatic leukemia, Malignant melanoma of skin, Adenoid cystic carcinoma,
Transitional cell carcinoma of the bladder | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr2:198267483
- GRCh38:
- Chr2:197402759
| SF3B1 | R625H | Uveal melanoma | Likely pathogenic
(Dec 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:198267361
- GRCh38:
- Chr2:197402637
| SF3B1 | K666Q | Chronic lymphatic leukemia, Malignant melanoma of skin, Hepatocellular carcinoma,
Breast neoplasm | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr11:65830499
- GRCh38:
- Chr11:66063028
| SF3B2 | H666P | Chronic lymphatic leukemia, Malignant melanoma of skin, Hepatocellular carcinoma,
Breast neoplasm | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr2:219447749
- GRCh38:
- Chr2:218583026
| CNOT9 | S87C | Prostate adenocarcinoma, Gastric adenocarcinoma, Malignant melanoma of skin,
Hepatocellular carcinoma, Transitional cell carcinoma of the bladder | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr2:219447748
- GRCh38:
- Chr2:218583025
| CNOT9 | S87P | Gastric adenocarcinoma, Prostate adenocarcinoma, Malignant melanoma of skin,
Hepatocellular carcinoma, Transitional cell carcinoma of the bladder | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr2:219449405
- GRCh38:
- Chr2:218584682
| CNOT9 | P131S | Malignant melanoma of skin | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:12645699
- GRCh38:
- Chr3:12604200
| RAF1 | S257W, S143W, S176W, S224W | Cardiovascular phenotype, RASopathy | Conflicting interpretations of pathogenicity
(Feb 16, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr7:6426892
- GRCh38:
- Chr7:6387261
| RAC1 | P29T | Malignant neoplasm of body of uterus, Malignant melanoma of skin, Squamous cell carcinoma of the head and neck,
Squamous cell carcinoma of the skin | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr7:6426893
- GRCh38:
- Chr7:6387262
| RAC1 | P29L | Malignant neoplasm of body of uterus, Malignant melanoma of skin, Squamous cell carcinoma of the head and neck,
Squamous cell carcinoma of the skin | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - 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:
- Chr9:127912080
- GRCh38:
- Chr9:125149801
| PPP6C | R242C, R264C, R301C | Malignant melanoma of skin, Squamous cell lung carcinoma | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - 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:
- Chr3:178936096
- 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:
- Chr3:178952086
- 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:
- Chr8:128750636
- GRCh38:
- Chr8:127738390
| MYC | P58L, P57L | Neuroblastoma, Malignant melanoma of skin, Lung adenocarcinoma,
Non-Hodgkin lymphoma, Esophageal carcinoma | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr8:128750680
- GRCh38:
- Chr8:127738434
| MYC | T73P, T72P | Esophageal carcinoma, Neuroblastoma, Malignant melanoma of skin,
Non-Hodgkin lymphoma, 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:
- Chr19:4117549
- GRCh38:
- Chr19:4117551
| MAP2K2 | F57L | Pancreatic adenocarcinoma, Gastric adenocarcinoma, Malignant melanoma of skin,
Squamous cell carcinoma of the head and neck | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr15:66727454
- GRCh38:
- Chr15:66435116
| MAP2K1 | K57T | Prostate adenocarcinoma, Gastric adenocarcinoma, Squamous cell carcinoma of the head and neck,
Non-Hodgkin lymphoma, Lung adenocarcinoma, Malignant melanoma of skin
| Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr15:66727441
- GRCh38:
- Chr15:66435103
| MAP2K1 | F53I | Gastric adenocarcinoma, Neoplasm of the large intestine, Malignant melanoma of skin,
Lung adenocarcinoma | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr15:66727441
- GRCh38:
- Chr15:66435103
| MAP2K1 | F53V | Gastric adenocarcinoma, Neoplasm of the large intestine, Lung adenocarcinoma,
Malignant melanoma of skin | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr15:66727443
- GRCh38:
- Chr15:66435105
| MAP2K1 | F53L | Gastric adenocarcinoma, Neoplasm of the large intestine, Lung adenocarcinoma,
Malignant melanoma of skin | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr11:533875
- GRCh38:
- Chr11:533875
| HRAS, LRRC56 | Q61E | Thyroid tumor, Neoplasm of the large intestine, Malignant neoplasm of body of uterus,
Chronic lymphatic leukemia, Multiple myeloma, Malignant melanoma of skin,
Squamous cell lung carcinoma, Lung adenocarcinoma, Hepatocellular carcinoma,
Acute myeloid leukemia, Gastric adenocarcinomaTransitional cell carcinoma of the bladder,
Pancreatic adenocarcinoma, ...see more | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr15:40675107
- GRCh38:
- Chr15:40382906
| KNSTRN | S24F | Malignant melanoma of skin, Squamous cell carcinoma of the skin | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr4:55594223
- GRCh38:
- Chr4:54728057
| KIT | K642N, K638N, K639N, K643N | Malignant melanoma of skin, Gastric 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:
- Chr7:148508742
- GRCh38:
- Chr7:148811650
| EZH2 | E641A, E585A, E597A, E627A, E636A | Malignant melanoma of skin, Non-Hodgkin lymphoma | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr7:148508742
- GRCh38:
- Chr7:148811650
| EZH2 | E641V, E636V, E597V, E627V, E585V | Non-Hodgkin lymphoma, Malignant melanoma of skin | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr17:37880219
- GRCh38:
- Chr17:39723966
| ERBB2 | L725M, L740M, L755M, L409M, L479M, L669M, L695M, L739M, L741M, L743M, L752M, L754M, L762M, L765M, L780M, L782M, L789M, L794M | Papillary renal cell carcinoma, sporadic, Malignant neoplasm of body of uterus, Gastric adenocarcinoma,
Breast neoplasm, Neoplasm of the large intestine, Malignant melanoma of skin,
Transitional cell carcinoma of the bladder | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266125
- GRCh38:
- Chr3:41224634
| CTNNB1, LOC126806658 | T41N, T34N | Prostate adenocarcinoma, Malignant neoplasm of body of uterus, Adrenal cortex carcinoma,
Neoplasm of the large intestine, Pancreatic adenocarcinoma, Malignant melanoma of skin,
Hepatocellular carcinoma, Lung adenocarcinoma | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266100
- GRCh38:
- Chr3:41224609
| CTNNB1, LOC126806658 | S33T, S26T | Neoplasm of the large intestine, Malignant neoplasm of body of uterus, Prostate adenocarcinoma,
Esophageal carcinoma, Pancreatic adenocarcinoma, Malignant melanoma of skin,
Hepatocellular carcinoma, Lung adenocarcinoma, Medulloblastoma,
Gastric adenocarcinoma, Transitional cell carcinoma of the bladder ...see more | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr3:41266100
- GRCh38:
- Chr3:41224609
| CTNNB1, LOC126806658 | S33A, S26A | Neoplasm of the large intestine, Prostate adenocarcinoma, Malignant neoplasm of body of uterus,
Esophageal carcinoma, Malignant melanoma of skin, Hepatocellular carcinoma,
Lung adenocarcinoma, Medulloblastoma, Transitional cell carcinoma of the bladder,
Gastric adenocarcinoma, Pancreatic adenocarcinoma ...see more | Likely pathogenic
(May 31, 2016) | no assertion criteria provided |