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Items: 1 to 100 of 594

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr2:61719471
GRCh38:
Chr2:61492336
XPO1E571AChronic lymphatic leukemia, Adenocarcinoma of prostate, Neoplasm of the large intestine,
Breast neoplasm, Malignant neoplasm of body of uterus
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376697
2.
GRCh37:
Chr2:61719471
GRCh38:
Chr2:61492336
XPO1E571VAdenocarcinoma of prostate, Breast neoplasm, Chronic lymphatic leukemia,
Malignant neoplasm of body of uterus, Neoplasm of the large intestine
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376696
3.
GRCh37:
Chr2:61719472
GRCh38:
Chr2:61492337
XPO1E571KNeoplasm of the large intestine, Adenocarcinoma of prostate, Breast neoplasm,
Chronic lymphatic leukemia, Malignant neoplasm of body of uterus
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376695
4.
GRCh37:
Chr17:7577575
GRCh38:
Chr17:7674257
TP53Y104N, Y197N, Y236N, Y77NOvarian Serous Cystadenocarcinoma, Neoplasm of the large intestine, Squamous cell carcinoma of the skin,
Neoplasm of brain, Lung adenocarcinoma, Adenocarcinoma of stomach,
Squamous cell carcinoma of the head and neck, Adenocarcinoma of prostate, Pancreatic adenocarcinoma,
Hereditary cancer-predisposing syndrome, Breast neoplasmSquamous cell lung carcinoma,
Li-Fraumeni syndrome, ...see more
Uncertain significance
(May 3, 2016)
criteria provided, multiple submitters, no conflictsVCV000376694
5.
GRCh37:
Chr17:7577574
GRCh38:
Chr17:7674256
TP53Y104C, Y197C, Y236C, Y77COvarian Serous Cystadenocarcinoma, Adenocarcinoma of stomach, Neoplasm of brain,
Lung adenocarcinoma, Squamous cell carcinoma of the skin, Neoplasm of ovary,
Adenocarcinoma of prostate, Pancreatic adenocarcinoma, Breast neoplasm,
not provided, Squamous cell lung carcinomaLi-Fraumeni syndrome,
Neoplasm of the large intestine, Squamous cell carcinoma of the head and neck, ...see more
Conflicting interpretations of pathogenicity
(Jun 8, 2020)
criteria provided, conflicting interpretationsVCV000376693
6.
GRCh37:
Chr17:7577581
GRCh38:
Chr17:7674263
TP53Y102N, Y195N, Y234N, Y75NSmall cell lung carcinoma, Ovarian Serous Cystadenocarcinoma, Neoplasm of the large intestine,
Glioblastoma, Adenocarcinoma of stomach, Adrenocortical carcinoma,
Hereditary cancer-predisposing syndrome, Adenocarcinoma of prostate, Transitional cell carcinoma of the bladder,
Breast neoplasm, Li-Fraumeni syndromeHepatocellular carcinoma,
Squamous cell lung carcinoma, Squamous cell carcinoma of the head and neck, Carcinoma of esophagus,
Pancreatic adenocarcinoma, ...see more
Conflicting interpretations of pathogenicity
(May 23, 2019)
criteria provided, conflicting interpretationsVCV000376692
7.
GRCh37:
Chr17:7577581
GRCh38:
Chr17:7674263
TP53Y102H, Y195H, Y234H, Y75HLi-Fraumeni syndrome, Neoplasm of the large intestine, Glioblastoma,
Adenocarcinoma of stomach, Adrenocortical carcinoma, Hereditary cancer-predisposing syndrome,
Squamous cell lung carcinoma, Squamous cell carcinoma of the head and neck, Adenocarcinoma of prostate,
Transitional cell carcinoma of the bladder, Breast neoplasmNeoplasm of ovary,
Hepatocellular carcinoma, Small cell lung carcinoma, Ovarian Serous Cystadenocarcinoma,
Carcinoma of esophagus, Pancreatic adenocarcinoma, ...see more
Pathogenic
(Oct 14, 2020)
criteria provided, multiple submitters, no conflictsVCV000376691
8.
GRCh37:
Chr17:7577580
GRCh38:
Chr17:7674262
TP53Y102S, Y195S, Y234S, Y75SHepatocellular carcinoma, Ovarian Serous Cystadenocarcinoma, Adenocarcinoma of stomach,
Neoplasm of the large intestine, Glioblastoma, Carcinoma of esophagus,
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome, Transitional cell carcinoma of the bladder,
Adenocarcinoma of prostate, Squamous cell carcinoma of the head and neckAdrenocortical carcinoma,
Breast neoplasm, Squamous cell lung carcinoma, Small cell lung carcinoma,
Pancreatic adenocarcinoma, ...see more
Conflicting interpretations of pathogenicity
(Jun 14, 2020)
criteria provided, conflicting interpretationsVCV000376690
9.
GRCh37:
Chr17:7578191
GRCh38:
Chr17:7674873
TP53Y181D, Y220D, Y88D, Y61DRenal cell carcinoma, papillary, 1, Small cell lung carcinoma, Adenocarcinoma of stomach,
Neoplasm of brain, Lung adenocarcinoma, Uterine Carcinosarcoma,
Papillary renal cell carcinoma, sporadic, Squamous cell carcinoma of the head and neck, Glioblastoma,
Transitional cell carcinoma of the bladder, Malignant melanoma of skinAdenocarcinoma of prostate,
Pancreatic adenocarcinoma, Breast neoplasm, Hepatocellular carcinoma,
Squamous cell lung carcinoma, Malignant neoplasm of body of uterus, Ovarian Serous Cystadenocarcinoma,
Neoplasm of the large intestine, ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376689
10.
GRCh37:
Chr17:7578191
GRCh38:
Chr17:7674873
TP53Y181N, Y220N, Y88N, Y61NOvarian Serous Cystadenocarcinoma, Squamous cell carcinoma of the head and neck, Uterine Carcinosarcoma,
Papillary renal cell carcinoma, sporadic, Adenocarcinoma of stomach, Glioblastoma,
Hereditary cancer-predisposing syndrome, Transitional cell carcinoma of the bladder, Neoplasm of brain,
not provided, Hepatocellular carcinomaAdenocarcinoma of prostate,
Breast neoplasm, Squamous cell lung carcinoma, Li-Fraumeni syndrome,
Malignant melanoma of skin, Renal cell carcinoma, papillary, 1, Small cell lung carcinoma,
Lung adenocarcinoma, Malignant neoplasm of body of uterus, Neoplasm of the large intestine,
Pancreatic adenocarcinoma, ...see more
Conflicting interpretations of pathogenicity
(Oct 15, 2020)
criteria provided, conflicting interpretationsVCV000376688
11.
GRCh37:
Chr17:7578191
GRCh38:
Chr17:7674873
TP53Y181H, Y220H, Y88H, Y61HHepatocellular carcinoma, Renal cell carcinoma, papillary, 1, Small cell lung carcinoma,
Li-Fraumeni syndrome, Squamous cell carcinoma of the head and neck, Neoplasm of the large intestine,
Glioblastoma, Hereditary cancer-predisposing syndrome, Neoplasm of brain,
Uterine Carcinosarcoma, Papillary renal cell carcinoma, sporadicAdenocarcinoma of stomach,
Transitional cell carcinoma of the bladder, Malignant melanoma of skin, Adenocarcinoma of prostate,
Pancreatic adenocarcinoma, Breast neoplasm, Neoplasm of ovary,
Squamous cell lung carcinoma, Lung adenocarcinoma, Malignant neoplasm of body of uterus,
Ovarian Serous Cystadenocarcinoma, ...see more
Conflicting interpretations of pathogenicity
(Oct 1, 2020)
criteria provided, conflicting interpretationsVCV000376687
12.
GRCh37:
Chr17:7578236
GRCh38:
Chr17:7674918
TP53Y166D, Y205D, Y73D, Y46DMultiple myeloma, Lung adenocarcinoma, Uterine Carcinosarcoma,
Glioblastoma, Neoplasm of brain, Hepatocellular carcinoma,
Non-Hodgkin lymphoma, Pancreatic adenocarcinoma, Breast neoplasm,
Squamous cell lung carcinoma, Li-Fraumeni syndrome 1Li-Fraumeni syndrome,
Renal cell carcinoma, papillary, 1, Squamous cell carcinoma of the head and neck, Malignant neoplasm of body of uterus,
Ovarian Serous Cystadenocarcinoma, Neoplasm of the large intestine, Carcinoma of esophagus,
...see more
Uncertain significance
(May 23, 2018)
criteria provided, multiple submitters, no conflictsVCV000376686
13.
GRCh37:
Chr17:7578236
GRCh38:
Chr17:7674918
TP53Y166H, Y205H, Y73H, Y46HRenal cell carcinoma, papillary, 1, Ovarian Serous Cystadenocarcinoma, Glioblastoma,
Carcinoma of esophagus, Neoplasm of brain, Squamous cell carcinoma of the head and neck,
Uterine Carcinosarcoma, Hereditary cancer-predisposing syndrome, Non-Hodgkin lymphoma,
Lung adenocarcinoma, Neoplasm of the large intestineBreast neoplasm,
Hepatocellular carcinoma, Li-Fraumeni syndrome, Multiple myeloma,
Squamous cell lung carcinoma, Malignant neoplasm of body of uterus, Pancreatic adenocarcinoma,
...see more
Conflicting interpretations of pathogenicity
(May 29, 2019)
criteria provided, conflicting interpretationsVCV000376685
14.
GRCh37:
Chr17:7578236
GRCh38:
Chr17:7674918
TP53Y166N, Y205N, Y73N, Y46NMultiple myeloma, Renal cell carcinoma, papillary, 1, Squamous cell carcinoma of the head and neck,
Neoplasm of the large intestine, Uterine Carcinosarcoma, Glioblastoma,
Neoplasm of brain, Non-Hodgkin lymphoma, Hereditary cancer-predisposing syndrome,
Breast neoplasm, Lung adenocarcinomaHepatocellular carcinoma,
Squamous cell lung carcinoma, Li-Fraumeni syndrome 1, Malignant neoplasm of body of uterus,
Ovarian Serous Cystadenocarcinoma, Carcinoma of esophagus, Pancreatic adenocarcinoma,
...see more
Uncertain significance
(May 4, 2019)
criteria provided, multiple submitters, no conflictsVCV000376684
15.
GRCh37:
Chr17:7578235
GRCh38:
Chr17:7674917
TP53Y166S, Y205S, Y73S, Y46SHepatocellular carcinoma, Lung adenocarcinoma, Ovarian Serous Cystadenocarcinoma,
Neoplasm of the large intestine, Glioblastoma, Carcinoma of esophagus,
Uterine Carcinosarcoma, Neoplasm of brain, Non-Hodgkin lymphoma,
Malignant neoplasm of body of uterus, Breast neoplasmSquamous cell lung carcinoma,
Multiple myeloma, Renal cell carcinoma, papillary, 1, Squamous cell carcinoma of the head and neck,
Pancreatic adenocarcinoma, ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376683
16.
GRCh37:
Chr17:7578235
GRCh38:
Chr17:7674917
TP53Y166F, Y205F, Y73F, Y46FRenal cell carcinoma, papillary, 1, Squamous cell carcinoma of the head and neck, Ovarian Serous Cystadenocarcinoma,
Neoplasm of the large intestine, Carcinoma of esophagus, Neoplasm of brain,
Lung adenocarcinoma, Uterine Carcinosarcoma, Glioblastoma,
Non-Hodgkin lymphoma, Pancreatic adenocarcinomaBreast neoplasm,
Squamous cell lung carcinoma, Multiple myeloma, Hepatocellular carcinoma,
Malignant neoplasm of body of uterus, ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376682
17.
GRCh37:
Chr17:7578235
GRCh38:
Chr17:7674917
TP53Y166C, Y205C, Y73C, Y46CMultiple myeloma, Lung adenocarcinoma, Uterine Carcinosarcoma,
Squamous cell carcinoma of the head and neck, Glioblastoma, Hepatocellular carcinoma,
Renal cell carcinoma, papillary, 1, Non-Hodgkin lymphoma, Breast neoplasm,
Squamous cell lung carcinoma, Neoplasm of brainLi-Fraumeni syndrome,
Malignant neoplasm of body of uterus, Ovarian Serous Cystadenocarcinoma, Neoplasm of the large intestine,
Carcinoma of esophagus, Pancreatic adenocarcinoma, ...see more
Likely pathogenic
(May 1, 2018)
criteria provided, single submitterVCV000376681
18.
GRCh37:
Chr17:7578443
GRCh38:
Chr17:7675125
TP53Y124H, Y163H, Y31H, Y4HMalignant melanoma of skin, Small cell lung carcinoma, Ovarian Serous Cystadenocarcinoma,
Neoplasm of the large intestine, Hereditary cancer-predisposing syndrome, Neoplasm of brain,
Uterine Carcinosarcoma, Brainstem glioma, Squamous cell carcinoma of the head and neck,
Breast neoplasm, Hepatocellular carcinomaSquamous cell lung carcinoma,
Lung adenocarcinoma, Li-Fraumeni syndrome, Carcinoma of esophagus,
Pancreatic adenocarcinoma, ...see more
Uncertain significance
(Nov 18, 2019)
criteria provided, multiple submitters, no conflictsVCV000376680
19.
GRCh37:
Chr17:7578443
GRCh38:
Chr17:7675125
TP53Y124N, Y163N, Y31N, Y4NMalignant melanoma of skin, Li-Fraumeni syndrome, Uterine Carcinosarcoma,
Brainstem glioma, Neoplasm of brain, Hepatocellular carcinoma,
Breast neoplasm, Squamous cell lung carcinoma, Lung adenocarcinoma,
Small cell lung carcinoma, Squamous cell carcinoma of the head and neckOvarian Serous Cystadenocarcinoma,
Neoplasm of the large intestine, Carcinoma of esophagus, Pancreatic adenocarcinoma,
...see more
Uncertain significance
(Aug 24, 2017)
criteria provided, single submitterVCV000376679
20.
GRCh37:
Chr17:7577118
GRCh38:
Chr17:7673800
TP53V142L, V235L, V274L, V115LMalignant melanoma of skin, Small cell lung carcinoma, Ovarian Serous Cystadenocarcinoma,
Adenocarcinoma of stomach, Li-Fraumeni syndrome, Neoplasm of brain,
Hepatocellular carcinoma, Adenocarcinoma of prostate, Breast neoplasm,
Lung adenocarcinoma, Neoplasm of the large intestinePancreatic adenocarcinoma,
...see more
Uncertain significance
(Apr 24, 2018)
criteria provided, single submitterVCV000376678
21.
GRCh37:
Chr17:7577117
GRCh38:
Chr17:7673799
TP53V142A, V235A, V274A, V115AMalignant melanoma of skin, Small cell lung carcinoma, Neoplasm of brain,
Li-Fraumeni syndrome, Adenocarcinoma of stomach, Adenocarcinoma of prostate,
Pancreatic adenocarcinoma, Breast neoplasm, Hepatocellular carcinoma,
Lung adenocarcinoma, Ovarian Serous CystadenocarcinomaNeoplasm of the large intestine,
...see more
Uncertain significance
(Feb 27, 2020)
criteria provided, single submitterVCV000376677
22.
GRCh37:
Chr17:7577117
GRCh38:
Chr17:7673799
TP53V142G, V235G, V274G, V115GHepatocellular carcinoma, Ovarian Serous Cystadenocarcinoma, Neoplasm of the large intestine,
Pancreatic adenocarcinoma, Adenocarcinoma of stomach, Lip and oral cavity carcinoma,
Hereditary cancer-predisposing syndrome, Neoplasm of brain, Adenocarcinoma of prostate,
Breast neoplasm, Malignant melanoma of skinSmall cell lung carcinoma,
Lung adenocarcinoma, Li-Fraumeni syndrome, ...see more
Conflicting interpretations of pathogenicity
(May 25, 2020)
criteria provided, conflicting interpretationsVCV000376676
23.
GRCh37:
Chr17:7577117
GRCh38:
Chr17:7673799
TP53V142D, V235D, V274D, V115DHepatocellular carcinoma, Ovarian Serous Cystadenocarcinoma, Neoplasm of the large intestine,
Neoplasm of brain, Li-Fraumeni syndrome, Adenocarcinoma of stomach,
Adenocarcinoma of prostate, Pancreatic adenocarcinoma, Breast neoplasm,
Malignant melanoma of skin, Small cell lung carcinomaLung adenocarcinoma,
...see more
Uncertain significance
(Oct 9, 2019)
criteria provided, single submitterVCV000376675
24.
GRCh37:
Chr17:7577118
GRCh38:
Chr17:7673800
TP53V142F, V235F, V274F, V115FAdenocarcinoma of stomach, Neoplasm of brain, Lung adenocarcinoma,
Lip and oral cavity carcinoma, Hepatocellular carcinoma, Adenocarcinoma of prostate,
Pancreatic adenocarcinoma, Breast neoplasm, Small cell lung carcinoma,
Li-Fraumeni syndrome, Malignant melanoma of skinOvarian Serous Cystadenocarcinoma,
Neoplasm of the large intestine, ...see more
Uncertain significance
(Jul 9, 2020)
criteria provided, single submitterVCV000376674
25.
GRCh37:
Chr17:7577123
GRCh38:
Chr17:7673805
TP53V140E, V233E, V272E, V113ERenal cell carcinoma, papillary, 1, Medulloblastoma, Neoplasm of the large intestine,
Squamous cell carcinoma of the skin, Adenocarcinoma of stomach, Squamous cell carcinoma of the head and neck,
Transitional cell carcinoma of the bladder, Breast neoplasm, Lung adenocarcinoma,
Multiple myeloma, Li-Fraumeni syndromeMalignant neoplasm of body of uterus,
Ovarian Serous Cystadenocarcinoma, Pancreatic adenocarcinoma, ...see more
Uncertain significance
(Sep 10, 2019)
criteria provided, single submitterVCV000376673
26.
GRCh37:
Chr17:7578202
GRCh38:
Chr17:7674884
TP53V177E, V216E, V84E, V57ESquamous cell carcinoma of the head and neck, Glioblastoma, Squamous cell carcinoma of the skin,
Uterine Carcinosarcoma, Neoplasm of brain, Squamous cell lung carcinoma,
Breast neoplasm, Lung adenocarcinoma, Ovarian Serous Cystadenocarcinoma,
Carcinoma of esophagus, Pancreatic adenocarcinoma ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376672
27.
GRCh37:
Chr17:7578202
GRCh38:
Chr17:7674884
TP53V177G, V216G, V84G, V57GLung adenocarcinoma, Ovarian Serous Cystadenocarcinoma, Glioblastoma,
Carcinoma of esophagus, Squamous cell carcinoma of the skin, Li-Fraumeni syndrome,
Uterine Carcinosarcoma, Neoplasm of brain, Squamous cell carcinoma of the head and neck,
Breast neoplasm, Squamous cell lung carcinomaPancreatic adenocarcinoma,
...see more
Uncertain significance
(Jun 17, 2019)
criteria provided, single submitterVCV000376671
28.
GRCh37:
Chr17:7578203
GRCh38:
Chr17:7674885
TP53V177L, V216L, V84L, V57LSquamous cell carcinoma of the head and neck, Squamous cell carcinoma of the skin, Neoplasm of brain,
Lung adenocarcinoma, Uterine Carcinosarcoma, Glioblastoma,
Carcinoma of esophagus, Pancreatic adenocarcinoma, Breast neoplasm,
Neoplasm of ovary, Li-Fraumeni syndromeSquamous cell lung carcinoma,
Ovarian Serous Cystadenocarcinoma, ...see more
Uncertain significance
(Dec 11, 2019)
criteria provided, single submitterVCV000376670
29.
GRCh37:
Chr17:7578412
GRCh38:
Chr17:7675094
TP53V134E, V173E, V41E, V14EMalignant melanoma of skin, Ovarian Serous Cystadenocarcinoma, Squamous cell carcinoma of the head and neck,
Adenocarcinoma of stomach, Adrenocortical carcinoma, Hereditary cancer-predisposing syndrome,
Brainstem glioma, Neoplasm of brain, Hepatocellular carcinoma,
Breast neoplasm, not specifiedSmall cell lung carcinoma,
Lung adenocarcinoma, Malignant neoplasm of body of uterus, Neoplasm of the large intestine,
Carcinoma of esophagus, Pancreatic adenocarcinoma, ...see more
Likely pathogenic
(Oct 9, 2017)
criteria provided, single submitterVCV000376669
30.
GRCh37:
Chr17:7578413
GRCh38:
Chr17:7675095
TP53V134L, V173L, V41L, V14LSmall cell lung carcinoma, Squamous cell carcinoma of the head and neck, Ovarian Serous Cystadenocarcinoma,
Carcinoma of esophagus, Neoplasm of brain, Adenocarcinoma of stomach,
Adrenocortical carcinoma, Neoplasm of the large intestine, Brainstem glioma,
Pancreatic adenocarcinoma, Breast neoplasmMalignant melanoma of skin,
Neoplasm of ovary, Hepatocellular carcinoma, Lung adenocarcinoma,
Li-Fraumeni syndrome, Malignant neoplasm of body of uterus, ...see more
Pathogenic
(Apr 30, 2020)
criteria provided, single submitterVCV000376668
31.
GRCh37:
Chr17:7579313
GRCh38:
Chr17:7675995
TP53T125R, T86RAdenocarcinoma of stomach, Squamous cell carcinoma of the skin, Li-Fraumeni syndrome,
Adrenocortical carcinoma, Glioblastoma, Brainstem glioma,
Transitional cell carcinoma of the bladder, Pancreatic adenocarcinoma, Breast neoplasm,
Neoplasm of brain, Malignant melanoma of skinHepatocellular carcinoma,
Acute myeloid leukemia, Small cell lung carcinoma, Squamous cell lung carcinoma,
Lung adenocarcinoma, Renal cell carcinoma, papillary, 1, Squamous cell carcinoma of the head and neck,
Ovarian Serous Cystadenocarcinoma, Neoplasm of the large intestine, Carcinoma of esophagus,
Hereditary cancer-predisposing syndrome, ...see more
Pathogenic/Likely pathogenic
(Jul 9, 2020)
criteria provided, multiple submitters, no conflictsVCV000376667
32.
GRCh37:
Chr17:7579314
GRCh38:
Chr17:7675996
TP53T125P, T86PMalignant melanoma of skin, Renal cell carcinoma, papillary, 1, Small cell lung carcinoma,
Ovarian Serous Cystadenocarcinoma, Glioblastoma, Squamous cell carcinoma of the skin,
Neoplasm of brain, Squamous cell carcinoma of the head and neck, Adenocarcinoma of stomach,
Brainstem glioma, Transitional cell carcinoma of the bladderAdrenocortical carcinoma,
Pancreatic adenocarcinoma, Breast neoplasm, Hepatocellular carcinoma,
Acute myeloid leukemia, Lung adenocarcinoma, Squamous cell lung carcinoma,
Li-Fraumeni syndrome, Neoplasm of the large intestine, Carcinoma of esophagus,
...see more
Uncertain significance
(Oct 19, 2019)
criteria provided, single submitterVCV000376666
33.
GRCh37:
Chr17:7577560
GRCh38:
Chr17:7674242
TP53S109A, S202A, S241A, S82AMalignant melanoma of skin, Neoplasm of the large intestine, Glioblastoma,
Squamous cell carcinoma of the skin, Neoplasm of brain, Li-Fraumeni syndrome,
Carcinoma of gallbladder, Uterine Carcinosarcoma, Papillary renal cell carcinoma, sporadic,
Squamous cell carcinoma of the head and neck, Brainstem gliomaNon-Hodgkin lymphoma,
Lung adenocarcinoma, Pancreatic adenocarcinoma, Transitional cell carcinoma of the bladder,
Breast neoplasm, Renal cell carcinoma, papillary, 1, Malignant neoplasm of body of uterus,
Ovarian Serous Cystadenocarcinoma, Carcinoma of esophagus, ...see more
Uncertain significance
(Dec 19, 2019)
criteria provided, single submitterVCV000376665
34.
GRCh37:
Chr17:7577560
GRCh38:
Chr17:7674242
TP53S109P, S202P, S241P, S82PLung adenocarcinoma, Carcinoma of gallbladder, Ovarian Serous Cystadenocarcinoma,
Neoplasm of the large intestine, Glioblastoma, Carcinoma of esophagus,
Squamous cell carcinoma of the skin, Uterine Carcinosarcoma, Papillary renal cell carcinoma, sporadic,
Brainstem glioma, Transitional cell carcinoma of the bladderNeoplasm of brain,
Neoplasm of ovary, Non-Hodgkin lymphoma, Malignant neoplasm of body of uterus,
Breast neoplasm, Malignant melanoma of skin, Li-Fraumeni syndrome,
Renal cell carcinoma, papillary, 1, Squamous cell carcinoma of the head and neck, Pancreatic adenocarcinoma,
...see more
Uncertain significance
(Jan 28, 2019)
criteria provided, single submitterVCV000376664
35.
GRCh37:
Chr17:7577559
GRCh38:
Chr17:7674241
TP53S109Y, S202Y, S241Y, S82YRenal cell carcinoma, papillary, 1, Carcinoma of gallbladder, Ovarian Serous Cystadenocarcinoma,
Neoplasm of the large intestine, Carcinoma of esophagus, Squamous cell carcinoma of the skin,
Brainstem glioma, Neoplasm of brain, Lung adenocarcinoma,
Uterine Carcinosarcoma, Papillary renal cell carcinoma, sporadicGlioblastoma,
not provided, Non-Hodgkin lymphoma, Pancreatic adenocarcinoma,
Transitional cell carcinoma of the bladder, Breast neoplasm, Neoplasm of ovary,
Malignant melanoma of skin, Li-Fraumeni syndrome, Squamous cell carcinoma of the head and neck,
Malignant neoplasm of body of uterus, ...see more
Pathogenic
(Jul 16, 2020)
criteria provided, multiple submitters, no conflictsVCV000376663
36.
GRCh37:
Chr17:7578205
GRCh38:
Chr17:7674887
TP53S176N, S215N, S83N, S56NSmall cell lung carcinoma, Lung adenocarcinoma, Adenocarcinoma of stomach,
Hepatocellular carcinoma, Breast neoplasm, Acute myeloid leukemia,
Li-Fraumeni syndrome, Ovarian Serous Cystadenocarcinoma, Carcinoma of esophagus,
Pancreatic adenocarcinoma, Hereditary cancer-predisposing syndrome ...see more
Conflicting interpretations of pathogenicity
(Sep 3, 2018)
criteria provided, conflicting interpretationsVCV000376662
37.
GRCh37:
Chr17:7578204
GRCh38:
Chr17:7674886
TP53S176R, S215R, S83R, S56RAdenocarcinoma of stomach, Acute myeloid leukemia, Breast neoplasm,
Neoplasm of ovary, Li-Fraumeni syndrome, Hepatocellular carcinoma,
Small cell lung carcinoma, Lung adenocarcinoma, Li-Fraumeni syndrome 1,
Ovarian Serous Cystadenocarcinoma, Carcinoma of esophagusPancreatic adenocarcinoma,
...see more
Uncertain significance
(May 10, 2017)
criteria provided, multiple submitters, no conflictsVCV000376661
38.
GRCh37:
Chr17:7578205
GRCh38:
Chr17:7674887
TP53S176I, S215I, S83I, S56IAdenocarcinoma of stomach, Hereditary cancer-predisposing syndrome, Hepatocellular carcinoma,
Breast neoplasm, Neoplasm of ovary, Lung adenocarcinoma,
Acute myeloid leukemia, Small cell lung carcinoma, Ovarian Serous Cystadenocarcinoma,
Carcinoma of esophagus, Pancreatic adenocarcinoma ...see more
Pathogenic
(Dec 5, 2019)
criteria provided, single submitterVCV000376660
39.
GRCh37:
Chr17:7577093
GRCh38:
Chr17:7673775
TP53R150P, R243P, R282P, R123PHepatocellular carcinoma, Ovarian Serous Cystadenocarcinoma, Adenocarcinoma of stomach,
Glioblastoma, Hereditary cancer-predisposing syndrome, Squamous cell carcinoma of the skin,
Li-Fraumeni syndrome, Transitional cell carcinoma of the bladder, Neoplasm of brain,
Malignant melanoma of skin, Non-Hodgkin lymphomaAdenocarcinoma of prostate,
Squamous cell carcinoma of the head and neck, Neoplasm of the large intestine, Breast neoplasm,
Lung adenocarcinoma, Renal cell carcinoma, papillary, 1, Squamous cell lung carcinoma,
Malignant neoplasm of body of uterus, Carcinoma of esophagus, Pancreatic adenocarcinoma,
...see more
Pathogenic/Likely pathogenic
(Oct 29, 2019)
criteria provided, multiple submitters, no conflictsVCV000376659
40.
GRCh37:
Chr17:7577100
GRCh38:
Chr17:7673782
TP53R148G, R241G, R280G, R121GSmall cell lung carcinoma, Squamous cell carcinoma of the skin, Neoplasm of brain,
Li-Fraumeni syndrome, Uterine Carcinosarcoma, Neoplasm of uterine cervix,
Adenocarcinoma of stomach, Squamous cell carcinoma of the head and neck, Transitional cell carcinoma of the bladder,
Malignant melanoma of skin, Carcinoma of esophagusHereditary cancer-predisposing syndrome,
Breast neoplasm, Neoplasm of ovary, Hepatocellular carcinoma,
Acute myeloid leukemia, Squamous cell lung carcinoma, Lung adenocarcinoma,
Nasopharyngeal Neoplasms, Ovarian Serous Cystadenocarcinoma, ...see more
Conflicting interpretations of pathogenicity
(Oct 19, 2020)
criteria provided, conflicting interpretationsVCV000376658
41.
GRCh37:
Chr17:7577099
GRCh38:
Chr17:7673781
TP53R148K, R241K, R280K, R121KHepatocellular carcinoma, Ovarian Serous Cystadenocarcinoma, Adenocarcinoma of stomach,
Squamous cell carcinoma of the head and neck, Carcinoma of esophagus, Squamous cell carcinoma of the skin,
Uterine Carcinosarcoma, Neoplasm of uterine cervix, Hereditary cancer-predisposing syndrome,
Transitional cell carcinoma of the bladder, Neoplasm of brainBreast neoplasm,
Malignant melanoma of skin, Squamous cell lung carcinoma, Li-Fraumeni syndrome,
Acute myeloid leukemia, Small cell lung carcinoma, Lung adenocarcinoma,
Nasopharyngeal Neoplasms, ...see more
Conflicting interpretations of pathogenicity
(Mar 16, 2020)
criteria provided, conflicting interpretationsVCV000376657
42.
GRCh37:
Chr17:7577121
GRCh38:
Chr17:7673803
TP53R141S, R234S, R273S, R114SOvarian Serous Cystadenocarcinoma, Neoplasm of the large intestine, Glioblastoma,
Carcinoma of esophagus, Neoplasm of brain, Medulloblastoma,
Uterine Carcinosarcoma, Adenocarcinoma of stomach, Adrenocortical carcinoma,
Brainstem glioma, Transitional cell carcinoma of the bladderChronic lymphatic leukemia,
Adenocarcinoma of prostate, Pancreatic adenocarcinoma, Breast neoplasm,
Squamous cell lung carcinoma, Lung adenocarcinoma, Li-Fraumeni syndrome,
Multiple myeloma, Malignant melanoma of skin, Hepatocellular carcinoma,
Acute myeloid leukemia, Small cell lung carcinoma, Squamous cell carcinoma of the head and neck,
Malignant neoplasm of body of uterus, Hereditary cancer-predisposing syndrome, ...see more
Pathogenic/Likely pathogenic
(Dec 14, 2019)
criteria provided, multiple submitters, no conflictsVCV000376656
43.
GRCh37:
Chr17:7577120
GRCh38:
Chr17:7673802
TP53R141L, R234L, R273L, R114Lnot provided, Adenocarcinoma of stomach, Neoplasm of brain,
Lung adenocarcinoma, Medulloblastoma, Uterine Carcinosarcoma,
Adrenocortical carcinoma, Glioblastoma, Hereditary cancer-predisposing syndrome,
Brainstem glioma, Transitional cell carcinoma of the bladderChronic lymphatic leukemia,
Neoplasm of ovary, Hepatocellular carcinoma, Adenocarcinoma of prostate,
Squamous cell carcinoma of the head and neck, Pancreatic adenocarcinoma, Breast neoplasm,
Malignant melanoma of skin, Acute myeloid leukemia, Squamous cell lung carcinoma,
Multiple myeloma, Small cell lung carcinoma, Li-Fraumeni syndrome,
Metastatic pancreatic neuroendocrine tumours, Malignant neoplasm of body of uterus, Ovarian Serous Cystadenocarcinoma,
Neoplasm of the large intestine, Carcinoma of esophagus, ...see more
Pathogenic
(Oct 16, 2020)
criteria provided, multiple submitters, no conflictsVCV000376655
44.
GRCh37:
Chr17:7577536
GRCh38:
Chr17:7674218
TP53R117G, R210G, R249G, R90GSmall cell lung carcinoma, Medulloblastoma, Glioblastoma,
Squamous cell carcinoma of the skin, Squamous cell carcinoma of the head and neck, Uterine Carcinosarcoma,
Adenocarcinoma of stomach, Hereditary cancer-predisposing syndrome, Lung adenocarcinoma,
Adenocarcinoma of prostate, not providedNeoplasm of ovary,
Li-Fraumeni syndrome, Hepatocellular carcinoma, Squamous cell lung carcinoma,
Malignant neoplasm of body of uterus, Ovarian Serous Cystadenocarcinoma, Carcinoma of esophagus,
Pancreatic adenocarcinoma, ...see more
Uncertain significance
(Sep 9, 2020)
criteria provided, multiple submitters, no conflictsVCV000376654
45.
GRCh37:
Chr17:7577535
GRCh38:
Chr17:7674217
TP53R117M, R210M, R249M, R90MLi-Fraumeni syndrome, Glioblastoma, Squamous cell carcinoma of the skin,
Lung adenocarcinoma, Medulloblastoma, Squamous cell carcinoma of the head and neck,
Uterine Carcinosarcoma, Adenocarcinoma of stomach, Neoplasm of ovary,
Squamous cell lung carcinoma, Adenocarcinoma of prostateHepatocellular carcinoma,
Small cell lung carcinoma, Malignant neoplasm of body of uterus, Ovarian Serous Cystadenocarcinoma,
Carcinoma of esophagus, Pancreatic adenocarcinoma, ...see more
Uncertain significance
(Nov 13, 2019)
criteria provided, single submitterVCV000376653
46.
GRCh37:
Chr17:7577539
GRCh38:
Chr17:7674221
TP53R116G, R209G, R248G, R89GLung adenocarcinoma, Ovarian Serous Cystadenocarcinoma, Adenocarcinoma of stomach,
Neoplasm of the large intestine, Glioblastoma, Carcinoma of esophagus,
Hereditary cancer-predisposing syndrome, Squamous cell carcinoma of the skin, Li-Fraumeni syndrome,
Medulloblastoma, Uterine CarcinosarcomaBrainstem glioma,
Transitional cell carcinoma of the bladder, Neoplasm of brain, Acute myeloid leukemia,
Carcinoma of colon, Adenocarcinoma of prostate, Breast neoplasm,
Chronic lymphatic leukemia, Myelodysplastic syndrome, Hepatocellular carcinoma,
Squamous cell lung carcinoma, Multiple myeloma, Malignant melanoma of skin,
Small cell lung carcinoma, Malignant neoplasm of body of uterus, Squamous cell carcinoma of the head and neck,
Pancreatic adenocarcinoma, ...see more
Conflicting interpretations of pathogenicity
(Apr 8, 2020)
criteria provided, conflicting interpretationsVCV000376652
47.
GRCh37:
Chr17:7578212
GRCh38:
Chr17:7674894
TP53R174G, R213G, R81G, R54GMalignant melanoma of skin, Squamous cell carcinoma of the head and neck, Squamous cell carcinoma of the skin,
Neoplasm of brain, Lung adenocarcinoma, Uterine Carcinosarcoma,
Adenocarcinoma of stomach, Adrenocortical carcinoma, Glioblastoma,
Renal cell carcinoma, papillary, 1, Adenoid cystic carcinomaAdenocarcinoma of prostate,
Carcinoma of esophagus, Pancreatic adenocarcinoma, Transitional cell carcinoma of the bladder,
Breast neoplasm, Hepatocellular carcinoma, Squamous cell lung carcinoma,
Malignant neoplasm of body of uterus, Nasopharyngeal Neoplasms, Ovarian Serous Cystadenocarcinoma,
Neoplasm of the large intestine, ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376651
48.
GRCh37:
Chr17:7578211
GRCh38:
Chr17:7674893
TP53R174L, R213L, R81L, R54LLung adenocarcinoma, Ovarian Serous Cystadenocarcinoma, Squamous cell carcinoma of the skin,
Uterine Carcinosarcoma, Adenocarcinoma of stomach, Adrenocortical carcinoma,
Squamous cell carcinoma of the head and neck, Glioblastoma, Transitional cell carcinoma of the bladder,
Neoplasm of brain, Hepatocellular carcinomaAdenoid cystic carcinoma,
Adenocarcinoma of prostate, Breast neoplasm, Malignant melanoma of skin,
Squamous cell lung carcinoma, Renal cell carcinoma, papillary, 1, Li-Fraumeni syndrome,
Malignant neoplasm of body of uterus, Nasopharyngeal Neoplasms, Neoplasm of the large intestine,
Carcinoma of esophagus, Pancreatic adenocarcinoma, ...see more
Uncertain significance
(Mar 14, 2020)
criteria provided, single submitterVCV000376650
49.
GRCh37:
Chr17:7578407
GRCh38:
Chr17:7675089
TP53R136G, R175G, R43G, R16GMedulloblastoma, Carcinoma of gallbladder, Ovarian Serous Cystadenocarcinoma,
Neoplasm of the large intestine, Glioblastoma, Carcinoma of esophagus,
Hereditary cancer-predisposing syndrome, Neoplasm of brain, Uterine Carcinosarcoma,
Adenocarcinoma of stomach, Brainstem gliomaTransitional cell carcinoma of the bladder,
Malignant melanoma of skin, Adenocarcinoma of prostate, Pancreatic adenocarcinoma,
Breast neoplasm, not provided, Chronic lymphatic leukemia,
Neoplasm of ovary, Hepatocellular carcinoma, Squamous cell lung carcinoma,
Lung adenocarcinoma, Li-Fraumeni syndrome, Squamous cell carcinoma of the head and neck,
Malignant neoplasm of body of uterus, Nasopharyngeal Neoplasms, ...see more
Pathogenic
(Dec 2, 2019)
criteria provided, multiple submitters, no conflictsVCV000376649
50.
GRCh37:
Chr17:7578498
GRCh38:
Chr17:7675180
TP53Q105H, Q12H, Q144HAdenocarcinoma of stomach, Lung adenocarcinoma, Transitional cell carcinoma of the bladder,
Hepatocellular carcinoma, Squamous cell carcinoma of the head and neck, Breast neoplasm,
not provided, Malignant neoplasm of body of uterus, Ovarian Serous Cystadenocarcinoma
Uncertain significance
(Jul 5, 2019)
criteria provided, single submitterVCV000376648
51.
GRCh37:
Chr17:7578499
GRCh38:
Chr17:7675181
TP53Q105L, Q12L, Q144LOvarian Serous Cystadenocarcinoma, Squamous cell carcinoma of the head and neck, Adenocarcinoma of stomach,
Transitional cell carcinoma of the bladder, Hepatocellular carcinoma, Breast neoplasm,
Lung adenocarcinoma, Li-Fraumeni syndrome, Malignant neoplasm of body of uterus
Uncertain significance
(Aug 28, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000376647
52.
GRCh37:
Chr17:7577105
GRCh38:
Chr17:7673787
TP53P146H, P239H, P278H, P119HMalignant melanoma of skin, Neoplasm of the large intestine, Squamous cell carcinoma of the skin,
Neoplasm of brain, Li-Fraumeni syndrome, Squamous cell carcinoma of the head and neck,
Malignant neoplasm of body of uterus, Pancreatic adenocarcinoma, Hereditary cancer-predisposing syndrome,
Breast neoplasm, Lung adenocarcinomaMultiple myeloma,
Squamous cell lung carcinoma, Ovarian Serous Cystadenocarcinoma, Carcinoma of esophagus,
...see more
Uncertain significance
(May 11, 2019)
criteria provided, multiple submitters, no conflictsVCV000376646
53.
GRCh37:
Chr17:7577106
GRCh38:
Chr17:7673788
TP53P146A, P239A, P278A, P119Anot provided, Lung adenocarcinoma, Ovarian Serous Cystadenocarcinoma,
Neoplasm of the large intestine, Carcinoma of esophagus, Squamous cell carcinoma of the skin,
Neoplasm of brain, Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome,
Malignant neoplasm of body of uterus, Breast neoplasmNeoplasm of ovary,
Squamous cell lung carcinoma, Multiple myeloma, Malignant melanoma of skin,
Squamous cell carcinoma of the head and neck, Pancreatic adenocarcinoma, ...see more
Conflicting interpretations of pathogenicity
(Jan 6, 2020)
criteria provided, conflicting interpretationsVCV000376645
54.
GRCh37:
Chr17:7577105
GRCh38:
Chr17:7673787
TP53P146R, P239R, P278R, P119ROvarian Serous Cystadenocarcinoma, Neoplasm of the large intestine, Carcinoma of esophagus,
Squamous cell carcinoma of the skin, Neoplasm of brain, Lung adenocarcinoma,
Li-Fraumeni syndrome, Squamous cell carcinoma of the head and neck, not provided,
Malignant melanoma of skin, Pancreatic adenocarcinomaBreast neoplasm,
Neoplasm of ovary, Squamous cell lung carcinoma, Multiple myeloma,
Malignant neoplasm of body of uterus, Hereditary cancer-predisposing syndrome, ...see more
Uncertain significance
(Nov 5, 2018)
criteria provided, multiple submitters, no conflictsVCV000376644
55.
GRCh37:
Chr17:7577106
GRCh38:
Chr17:7673788
TP53P146T, P239T, P278T, P119TMultiple myeloma, Malignant melanoma of skin, Ovarian Serous Cystadenocarcinoma,
Squamous cell carcinoma of the head and neck, Neoplasm of brain, Lung adenocarcinoma,
Squamous cell carcinoma of the skin, Malignant neoplasm of body of uterus, Breast neoplasm,
Squamous cell lung carcinoma, Neoplasm of ovaryNeoplasm of the large intestine,
Carcinoma of esophagus, Pancreatic adenocarcinoma, Poly (ADP-Ribose) polymerase inhibitor response,
...see more
Likely pathogenic, drug response
(Dec 1, 2018)
no assertion criteria providedVCV000376643
56.
GRCh37:
Chr17:7577106
GRCh38:
Chr17:7673788
TP53P146S, P239S, P278S, P119SMalignant melanoma of skin, Neoplasm of the large intestine, Squamous cell carcinoma of the skin,
Neoplasm of brain, not provided, Squamous cell carcinoma of the head and neck,
Hereditary cancer-predisposing syndrome, Breast neoplasm, Neoplasm of ovary,
Li-Fraumeni syndrome, Multiple myelomaSquamous cell lung carcinoma,
Lung adenocarcinoma, Malignant neoplasm of body of uterus, Ovarian Serous Cystadenocarcinoma,
Carcinoma of esophagus, Pancreatic adenocarcinoma, ...see more
Conflicting interpretations of pathogenicity
(Dec 29, 2019)
criteria provided, conflicting interpretationsVCV000376642
57.
GRCh37:
Chr17:7578479
GRCh38:
Chr17:7675161
TP53P112A, P151A, P19ALi-Fraumeni syndrome, Squamous cell carcinoma of the head and neck, Adenocarcinoma of stomach,
Lung adenocarcinoma, Uterine Carcinosarcoma, Neoplasm of brain,
Malignant melanoma of skin, Hepatocellular carcinoma, Squamous cell lung carcinoma,
Adenoid cystic carcinoma, Pancreatic adenocarcinomaTransitional cell carcinoma of the bladder,
Breast neoplasm, Multiple myeloma, Malignant neoplasm of body of uterus,
Ovarian Serous Cystadenocarcinoma, Neoplasm of the large intestine, Carcinoma of esophagus,
...see more
Pathogenic
(Jun 16, 2020)
criteria provided, single submitterVCV000376641
58.
GRCh37:
Chr17:7578478
GRCh38:
Chr17:7675160
TP53P112R, P151R, P19RMultiple myeloma, Hepatocellular carcinoma, Ovarian Serous Cystadenocarcinoma,
Adenocarcinoma of stomach, Li-Fraumeni syndrome, Uterine Carcinosarcoma,
Neoplasm of brain, Adenoid cystic carcinoma, Transitional cell carcinoma of the bladder,
Breast neoplasm, Lung adenocarcinomaMalignant melanoma of skin,
Squamous cell lung carcinoma, Malignant neoplasm of body of uterus, Squamous cell carcinoma of the head and neck,
Neoplasm of the large intestine, Carcinoma of esophagus, Pancreatic adenocarcinoma,
...see more
Pathogenic
(Oct 1, 2020)
criteria provided, single submitterVCV000376640
59.
GRCh37:
Chr17:7578478
GRCh38:
Chr17:7675160
TP53P112H, P151H, P19HNeoplasm of the large intestine, Neoplasm of brain, Li-Fraumeni syndrome,
Uterine Carcinosarcoma, Adenocarcinoma of stomach, Adenoid cystic carcinoma,
Squamous cell carcinoma of the head and neck, Carcinoma of esophagus, Pancreatic adenocarcinoma,
Transitional cell carcinoma of the bladder, Breast neoplasmNeoplasm of ovary,
Malignant melanoma of skin, Hepatocellular carcinoma, Multiple myeloma,
Squamous cell lung carcinoma, Lung adenocarcinoma, Malignant neoplasm of body of uterus,
Ovarian Serous Cystadenocarcinoma, ...see more
Uncertain significance
(Nov 23, 2017)
criteria provided, single submitterVCV000376639
60.
GRCh37:
Chr17:7577565
GRCh38:
Chr17:7674247
TP53N107T, N200T, N239T, N80THepatocellular carcinoma, Renal cell carcinoma, papillary, 1, Lung adenocarcinoma,
Ovarian Serous Cystadenocarcinoma, Squamous cell carcinoma of the head and neck, Uterine Carcinosarcoma,
Adenocarcinoma of stomach, Adenocarcinoma of prostate, Malignant neoplasm of body of uterus,
Breast neoplasm, Li-Fraumeni syndromeNeoplasm of the large intestine,
...see more
Uncertain significance
(Mar 25, 2019)
criteria provided, single submitterVCV000376638
61.
GRCh37:
Chr17:7577565
GRCh38:
Chr17:7674247
TP53N107S, N200S, N239S, N80SRenal cell carcinoma, papillary, 1, Ovarian Serous Cystadenocarcinoma, Neoplasm of the large intestine,
Lung adenocarcinoma, Uterine Carcinosarcoma, Adenocarcinoma of stomach,
Adenocarcinoma of prostate, Squamous cell carcinoma of the head and neck, Breast neoplasm,
Hepatocellular carcinoma, Malignant neoplasm of body of uterusHereditary cancer-predisposing syndrome,
...see more
Likely pathogenic
(Sep 22, 2020)
criteria provided, single submitterVCV000376637
62.
GRCh37:
Chr17:7577571
GRCh38:
Chr17:7674253
TP53M105K, M198K, M237K, M78KOvarian Serous Cystadenocarcinoma, Adenocarcinoma of stomach, Neoplasm of brain,
Squamous cell carcinoma of the head and neck, Brainstem glioma, Pancreatic adenocarcinoma,
Breast neoplasm, Squamous cell lung carcinoma, Lung adenocarcinoma,
Malignant neoplasm of body of uterus, Neoplasm of the large intestineCarcinoma of esophagus,
...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376636
63.
GRCh37:
Chr17:7578268
GRCh38:
Chr17:7674950
TP53L155P, L194P, L62P, L35PSquamous cell carcinoma of the head and neck, Neoplasm of the large intestine, Glioblastoma,
Neoplasm of brain, Neoplasm of uterine cervix, Transitional cell carcinoma of the bladder,
Breast neoplasm, Lung adenocarcinoma, Li-Fraumeni syndrome,
Hepatocellular carcinoma, Ovarian Serous CystadenocarcinomaPancreatic adenocarcinoma,
...see more
Uncertain significance
(Nov 10, 2019)
criteria provided, single submitterVCV000376635
64.
GRCh37:
Chr17:7578268
GRCh38:
Chr17:7674950
TP53L155H, L194H, L62H, L35HGlioblastoma, Li-Fraumeni syndrome, Neoplasm of uterine cervix,
Hereditary cancer-predisposing syndrome, Neoplasm of brain, Squamous cell carcinoma of the head and neck,
Pancreatic adenocarcinoma, Transitional cell carcinoma of the bladder, Breast neoplasm,
Neoplasm of ovary, Hepatocellular carcinomaLung adenocarcinoma,
Ovarian Serous Cystadenocarcinoma, Neoplasm of the large intestine, ...see more
Conflicting interpretations of pathogenicity
(Jul 10, 2020)
criteria provided, conflicting interpretationsVCV000376634
65.
GRCh37:
Chr17:7578268
GRCh38:
Chr17:7674950
TP53L155R, L194R, L62R, L35RLung adenocarcinoma, Ovarian Serous Cystadenocarcinoma, Hereditary cancer-predisposing syndrome,
Glioblastoma, Transitional cell carcinoma of the bladder, Neoplasm of brain,
Neoplasm of uterine cervix, Neoplasm of the large intestine, Colorectal cancer,
Breast neoplasm, Neoplasm of ovaryHepatocellular carcinoma,
Li-Fraumeni syndrome, Squamous cell carcinoma of the head and neck, Pancreatic adenocarcinoma,
...see more
Conflicting interpretations of pathogenicity
(Jun 20, 2020)
criteria provided, conflicting interpretationsVCV000376633
66.
GRCh37:
Chr17:7579355
GRCh38:
Chr17:7676037
TP53L111Q, L72QMalignant melanoma of skin, Li-Fraumeni syndrome, Adenocarcinoma of stomach,
Glioblastoma, Chronic lymphatic leukemia, Carcinoma of esophagus,
Breast neoplasm, Hepatocellular carcinoma, Squamous cell lung carcinoma
Uncertain significance
(Aug 14, 2020)
criteria provided, single submitterVCV000376632
67.
GRCh37:
Chr17:7579355
GRCh38:
Chr17:7676037
TP53L111R, L72RAdenocarcinoma of stomach, Glioblastoma, Malignant melanoma of skin,
Hepatocellular carcinoma, Breast neoplasm, Chronic lymphatic leukemia,
Squamous cell lung carcinoma, Carcinoma of esophagus
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376631
68.
GRCh37:
Chr17:7579355
GRCh38:
Chr17:7676037
TP53L111P, L72Pnot provided, Carcinoma of esophagus, Adenocarcinoma of stomach,
Breast neoplasm, Chronic lymphatic leukemia, Squamous cell lung carcinoma,
Li-Fraumeni syndrome, Neoplasm of ovary, Malignant melanoma of skin,
Hepatocellular carcinoma, Glioblastoma ...see more
Conflicting interpretations of pathogenicity
(Nov 13, 2018)
criteria provided, conflicting interpretationsVCV000376630
69.
GRCh37:
Chr17:7578535
GRCh38:
Chr17:7675217
TP53K132M, K93MMultiple myeloma, Squamous cell carcinoma of the head and neck, Ovarian Serous Cystadenocarcinoma,
Adenocarcinoma of stomach, Neoplasm of brain, Uterine Carcinosarcoma,
Neoplasm of uterine cervix, Glioblastoma, Transitional cell carcinoma of the bladder,
Squamous cell lung carcinoma, Adrenocortical carcinomaPancreatic adenocarcinoma,
Breast neoplasm, Lung adenocarcinoma, Li-Fraumeni syndrome,
Neoplasm of the large intestine, Carcinoma of esophagus, ...see more
Uncertain significance
(Apr 4, 2017)
criteria provided, single submitterVCV000376629
70.
GRCh37:
Chr17:7578536
GRCh38:
Chr17:7675218
TP53K132Q, K93QMultiple myeloma, Ovarian Serous Cystadenocarcinoma, Glioblastoma,
Li-Fraumeni syndrome, Squamous cell carcinoma of the head and neck, Uterine Carcinosarcoma,
Adenocarcinoma of stomach, Transitional cell carcinoma of the bladder, Neoplasm of brain,
Neoplasm of uterine cervix, Adrenocortical carcinomaNeoplasm of the large intestine,
Breast neoplasm, Lung adenocarcinoma, Squamous cell lung carcinoma,
Carcinoma of esophagus, Pancreatic adenocarcinoma, ...see more
Uncertain significance
(Sep 9, 2019)
criteria provided, single submitterVCV000376628
71.
GRCh37:
Chr17:7578535
GRCh38:
Chr17:7675217
TP53K132T, K93TNeoplasm of the large intestine, Neoplasm of brain, Uterine Carcinosarcoma,
Neoplasm of uterine cervix, Adenocarcinoma of stomach, Adrenocortical carcinoma,
Glioblastoma, Squamous cell carcinoma of the head and neck, Carcinoma of esophagus,
Transitional cell carcinoma of the bladder, Breast neoplasmMultiple myeloma,
Squamous cell lung carcinoma, Lung adenocarcinoma, Ovarian Serous Cystadenocarcinoma,
Pancreatic adenocarcinoma, ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376627
72.
GRCh37:
Chr17:7578536
GRCh38:
Chr17:7675218
TP53K132E, K93ELung adenocarcinoma, Squamous cell carcinoma of the head and neck, Ovarian Serous Cystadenocarcinoma,
Glioblastoma, Carcinoma of esophagus, Hereditary cancer-predisposing syndrome,
Uterine Carcinosarcoma, Adenocarcinoma of stomach, Adrenocortical carcinoma,
Transitional cell carcinoma of the bladder, Neoplasm of brainNeoplasm of uterine cervix,
Breast neoplasm, Squamous cell lung carcinoma, Li-Fraumeni syndrome,
Multiple myeloma, Li-Fraumeni syndrome 1, Neoplasm of the large intestine,
Pancreatic adenocarcinoma, ...see more
Conflicting interpretations of pathogenicity
(Sep 1, 2020)
criteria provided, conflicting interpretationsVCV000376626
73.
GRCh37:
Chr17:7578535
GRCh38:
Chr17:7675217
TP53K132R, K93ROvarian Serous Cystadenocarcinoma, Carcinoma of esophagus, Neoplasm of brain,
Li-Fraumeni syndrome, Uterine Carcinosarcoma, Squamous cell carcinoma of the head and neck,
Adenocarcinoma of stomach, Adrenocortical carcinoma, Neoplasm of the large intestine,
Glioblastoma, Transitional cell carcinoma of the bladderNeoplasm of uterine cervix,
Pancreatic adenocarcinoma, Breast neoplasm, Neoplasm of ovary,
Squamous cell lung carcinoma, Lung adenocarcinoma, Multiple myeloma,
...see more
Uncertain significance
(Sep 19, 2018)
criteria provided, single submitterVCV000376625
74.
GRCh37:
Chr17:7578534
GRCh38:
Chr17:7675216
TP53K132N, K93NMultiple myeloma, Ovarian Serous Cystadenocarcinoma, Adenocarcinoma of stomach,
Squamous cell carcinoma of the head and neck, Carcinoma of esophagus, Neoplasm of brain,
Uterine Carcinosarcoma, Neoplasm of uterine cervix, Glioblastoma,
Transitional cell carcinoma of the bladder, Adrenocortical carcinomaBreast neoplasm,
Squamous cell lung carcinoma, Lung adenocarcinoma, Li-Fraumeni syndrome,
Neoplasm of the large intestine, Pancreatic adenocarcinoma, ...see more
Likely pathogenic
(Aug 11, 2020)
reviewed by expert panel
FDA Recognized Database
VCV000376624
75.
GRCh37:
Chr17:7577517
GRCh38:
Chr17:7674199
TP53I123T, I216T, I255T, I96TGlioblastoma, Neoplasm of brain, Breast neoplasm,
Chronic lymphatic leukemia, Lung adenocarcinoma, Li-Fraumeni syndrome,
Carcinoma of esophagus, Pancreatic adenocarcinoma
Uncertain significance
(Oct 22, 2016)
criteria provided, single submitterVCV000376623
76.
GRCh37:
Chr17:7577517
GRCh38:
Chr17:7674199
TP53I123S, I216S, I255S, I96SGlioblastoma, Li-Fraumeni syndrome, Neoplasm of brain,
Chronic lymphatic leukemia, Pancreatic adenocarcinoma, Breast neoplasm,
Lung adenocarcinoma, Carcinoma of esophagus
Uncertain significance
(Jul 3, 2019)
criteria provided, single submitterVCV000376622
77.
GRCh37:
Chr17:7577518
GRCh38:
Chr17:7674200
TP53I123F, I216F, I255F, I96FGlioblastoma, Neoplasm of brain, Breast neoplasm,
Chronic lymphatic leukemia, Neoplasm of ovary, Lung adenocarcinoma,
Li-Fraumeni syndrome, Carcinoma of esophagus, Pancreatic adenocarcinoma
Uncertain significance
(Jun 14, 2020)
criteria provided, single submitterVCV000376621
78.
GRCh37:
Chr17:7578264
GRCh38:
Chr17:7674946
TP53I156M, I195M, I63M, I36MAcute myeloid leukemia, Li-Fraumeni syndrome, Uterine Carcinosarcoma,
Adenocarcinoma of stomach, Glioblastoma, Neoplasm of brain,
Squamous cell carcinoma of the head and neck, Carcinoma of esophagus, Pancreatic adenocarcinoma,
Breast neoplasm, Chronic lymphatic leukemiaHepatocellular carcinoma,
Lung adenocarcinoma, Multiple myeloma, Squamous cell lung carcinoma,
Ovarian Serous Cystadenocarcinoma, Neoplasm of the large intestine, ...see more
Uncertain significance
(Jan 13, 2020)
criteria provided, single submitterVCV000376620
79.
GRCh37:
Chr17:7578265
GRCh38:
Chr17:7674947
TP53I156S, I195S, I63S, I36SMultiple myeloma, Hepatocellular carcinoma, Acute myeloid leukemia,
Lung adenocarcinoma, Ovarian Serous Cystadenocarcinoma, Neoplasm of the large intestine,
Carcinoma of esophagus, Uterine Carcinosarcoma, Adenocarcinoma of stomach,
Squamous cell carcinoma of the head and neck, GlioblastomaHereditary cancer-predisposing syndrome,
Neoplasm of brain, Breast neoplasm, Chronic lymphatic leukemia,
Squamous cell lung carcinoma, Pancreatic adenocarcinoma, ...see more
Uncertain significance
(Sep 3, 2019)
criteria provided, single submitterVCV000376619
80.
GRCh37:
Chr17:7578265
GRCh38:
Chr17:7674947
TP53I156N, I195N, I63N, I36NAcute myeloid leukemia, Ovarian Serous Cystadenocarcinoma, Neoplasm of the large intestine,
Carcinoma of esophagus, Neoplasm of brain, Lung adenocarcinoma,
Uterine Carcinosarcoma, Squamous cell carcinoma of the head and neck, Adenocarcinoma of stomach,
Glioblastoma, Chronic lymphatic leukemiaPancreatic adenocarcinoma,
Hereditary cancer-predisposing syndrome, Breast neoplasm, Squamous cell lung carcinoma,
Li-Fraumeni syndrome, Multiple myeloma, Neoplasm of ovary,
Hepatocellular carcinoma, ...see more
Uncertain significance
(Jan 21, 2020)
criteria provided, multiple submitters, no conflictsVCV000376618
81.
GRCh37:
Chr17:7578266
GRCh38:
Chr17:7674948
TP53I156F, I195F, I63F, I36FMultiple myeloma, Malignant tumor of esophagus, Ovarian Serous Cystadenocarcinoma,
Squamous cell carcinoma of the head and neck, Neoplasm of brain, Lung adenocarcinoma,
Uterine Carcinosarcoma, Adenocarcinoma of stomach, Glioblastoma,
Chronic lymphatic leukemia, Hepatocellular carcinomaAcute myeloid leukemia,
Squamous cell lung carcinoma, Pancreatic adenocarcinoma, Breast neoplasm,
Li-Fraumeni syndrome, Neoplasm of the large intestine, Carcinoma of esophagus,
...see more
Conflicting interpretations of pathogenicity
(Mar 12, 2018)
criteria provided, conflicting interpretationsVCV000376617
82.
GRCh37:
Chr17:7578208
GRCh38:
Chr17:7674890
TP53H175L, H214L, H82L, H55LRenal cell carcinoma, papillary, 1, Neoplasm of the large intestine, Glioblastoma,
Adenocarcinoma of stomach, Transitional cell carcinoma of the bladder, Chronic lymphatic leukemia,
Hepatocellular carcinoma, Squamous cell lung carcinoma, Ovarian Serous Cystadenocarcinoma,
Carcinoma of esophagus, Pancreatic adenocarcinoma ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376616
83.
GRCh37:
Chr17:7578208
GRCh38:
Chr17:7674890
TP53H175R, H214R, H82R, H55RAdenocarcinoma of stomach, Neoplasm of the large intestine, Glioblastoma,
Li-Fraumeni syndrome, not provided, Squamous cell lung carcinoma,
Hereditary cancer-predisposing syndrome, Transitional cell carcinoma of the bladder, Chronic lymphatic leukemia,
Hepatocellular carcinoma, Renal cell carcinoma, papillary, 1Ovarian Serous Cystadenocarcinoma,
Carcinoma of esophagus, Pancreatic adenocarcinoma, ...see more
Likely pathogenic
(Aug 28, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000376615
84.
GRCh37:
Chr17:7578272
GRCh38:
Chr17:7674954
TP53H154N, H193N, H61N, H34NLung adenocarcinoma, Ovarian Serous Cystadenocarcinoma, Adenocarcinoma of stomach,
Carcinoma of esophagus, Uterine Carcinosarcoma, Papillary renal cell carcinoma, sporadic,
Brainstem glioma, Transitional cell carcinoma of the bladder, Neoplasm of brain,
Chronic lymphatic leukemia, Acute myeloid leukemiaAdenocarcinoma of prostate,
Breast neoplasm, Hepatocellular carcinoma, Squamous cell lung carcinoma,
Small cell lung carcinoma, Squamous cell carcinoma of the head and neck, Malignant neoplasm of body of uterus,
Neoplasm of the large intestine, Pancreatic adenocarcinoma, ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376614
85.
GRCh37:
Chr17:7578272
GRCh38:
Chr17:7674954
TP53H154D, H193D, H61D, H34DSmall cell lung carcinoma, Brainstem glioma, Neoplasm of brain,
Uterine Carcinosarcoma, Papillary renal cell carcinoma, sporadic, Adenocarcinoma of stomach,
Transitional cell carcinoma of the bladder, Chronic lymphatic leukemia, Lung adenocarcinoma,
Adenocarcinoma of prostate, Carcinoma of esophagusPancreatic adenocarcinoma,
Breast neoplasm, Hepatocellular carcinoma, Acute myeloid leukemia,
Squamous cell lung carcinoma, Squamous cell carcinoma of the head and neck, Malignant neoplasm of body of uterus,
Ovarian Serous Cystadenocarcinoma, Neoplasm of the large intestine, ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376613
86.
GRCh37:
Chr17:7578271
GRCh38:
Chr17:7674953
TP53H154P, H193P, H61P, H34PAcute myeloid leukemia, Lung adenocarcinoma, Ovarian Serous Cystadenocarcinoma,
Uterine Carcinosarcoma, Papillary renal cell carcinoma, sporadic, Adenocarcinoma of stomach,
Squamous cell carcinoma of the head and neck, Brainstem glioma, Transitional cell carcinoma of the bladder,
Neoplasm of brain, Hepatocellular carcinomaAdenocarcinoma of prostate,
Hereditary cancer-predisposing syndrome, Breast neoplasm, Chronic lymphatic leukemia,
Squamous cell lung carcinoma, Small cell lung carcinoma, Li-Fraumeni syndrome,
Malignant neoplasm of body of uterus, Neoplasm of the large intestine, Carcinoma of esophagus,
Pancreatic adenocarcinoma, ...see more
Pathogenic
(Aug 28, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000376612
87.
GRCh37:
Chr17:7578394
GRCh38:
Chr17:7675076
TP53H140P, H179P, H47P, H20PSmall cell lung carcinoma, Carcinoma of gallbladder, Ovarian Serous Cystadenocarcinoma,
Neoplasm of the large intestine, Glioblastoma, Carcinoma of esophagus,
Squamous cell carcinoma of the skin, Neoplasm of brain, Uterine Carcinosarcoma,
Adenocarcinoma of stomach, Acute myeloid leukemiaSquamous cell carcinoma of the head and neck,
Pancreatic adenocarcinoma, Hereditary cancer-predisposing syndrome, Breast neoplasm,
Lung adenocarcinoma, Malignant melanoma of skin, Hepatocellular carcinoma,
Squamous cell lung carcinoma, Malignant neoplasm of body of uterus, ...see more
Likely pathogenic
(Mar 19, 2019)
criteria provided, single submitterVCV000376611
88.
GRCh37:
Chr17:7578395
GRCh38:
Chr17:7675077
TP53H140D, H179D, H47D, H20DOvarian Serous Cystadenocarcinoma, Adenocarcinoma of stomach, Glioblastoma,
Squamous cell carcinoma of the skin, Lung adenocarcinoma, Carcinoma of gallbladder,
Uterine Carcinosarcoma, Neoplasm of brain, Malignant melanoma of skin,
Hepatocellular carcinoma, Squamous cell lung carcinomaPancreatic adenocarcinoma,
Breast neoplasm, Acute myeloid leukemia, Small cell lung carcinoma,
Malignant neoplasm of body of uterus, Neoplasm of the large intestine, Squamous cell carcinoma of the head and neck,
Carcinoma of esophagus, ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376610
89.
GRCh37:
Chr17:7578395
GRCh38:
Chr17:7675077
TP53H140N, H179N, H47N, H20NMalignant melanoma of skin, Acute myeloid leukemia, Small cell lung carcinoma,
Ovarian Serous Cystadenocarcinoma, Glioblastoma, Hereditary cancer-predisposing syndrome,
Squamous cell carcinoma of the skin, Carcinoma of gallbladder, Uterine Carcinosarcoma,
Adenocarcinoma of stomach, Neoplasm of brainnot provided,
Hepatocellular carcinoma, Squamous cell carcinoma of the head and neck, Neoplasm of the large intestine,
Breast neoplasm, Lung adenocarcinoma, Li-Fraumeni syndrome,
Squamous cell lung carcinoma, Malignant neoplasm of body of uterus, Carcinoma of esophagus,
Pancreatic adenocarcinoma, ...see more
Conflicting interpretations of pathogenicity
(Mar 26, 2021)
criteria provided, conflicting interpretationsVCV000376609
90.
GRCh37:
Chr17:7578394
GRCh38:
Chr17:7675076
TP53H140L, H179L, H47L, H20LMalignant melanoma of skin, Small cell lung carcinoma, Neoplasm of the large intestine,
Squamous cell carcinoma of the skin, Neoplasm of brain, Carcinoma of gallbladder,
Uterine Carcinosarcoma, Adenocarcinoma of stomach, Squamous cell carcinoma of the head and neck,
Glioblastoma, Breast neoplasmHepatocellular carcinoma,
Acute myeloid leukemia, Squamous cell lung carcinoma, Lung adenocarcinoma,
Li-Fraumeni syndrome, Malignant neoplasm of body of uterus, Ovarian Serous Cystadenocarcinoma,
Carcinoma of esophagus, Pancreatic adenocarcinoma, ...see more
Uncertain significance
(May 20, 2020)
criteria provided, single submitterVCV000376608
91.
GRCh37:
Chr17:7578393
GRCh38:
Chr17:7675075
TP53H140Q, H179Q, H47Q, H20QHepatocellular carcinoma, Lung adenocarcinoma, Carcinoma of gallbladder,
Ovarian Serous Cystadenocarcinoma, Neoplasm of the large intestine, Carcinoma of esophagus,
Hereditary cancer-predisposing syndrome, Squamous cell carcinoma of the skin, Li-Fraumeni syndrome,
Uterine Carcinosarcoma, Squamous cell carcinoma of the head and neckAdenocarcinoma of stomach,
Glioblastoma, Neoplasm of brain, Malignant melanoma of skin,
Malignant neoplasm of body of uterus, Breast neoplasm, Squamous cell lung carcinoma,
Acute myeloid leukemia, Small cell lung carcinoma, Pancreatic adenocarcinoma,
...see more
Pathogenic
(Nov 10, 2019)
criteria provided, multiple submitters, no conflictsVCV000376607
92.
GRCh37:
Chr17:7578394
GRCh38:
Chr17:7675076
TP53H140R, H179R, H47R, H20Rnot provided, Carcinoma of gallbladder, Squamous cell carcinoma of the head and neck,
Ovarian Serous Cystadenocarcinoma, Adenocarcinoma of stomach, Neoplasm of the large intestine,
Carcinoma of esophagus, Squamous cell carcinoma of the skin, Neoplasm of brain,
Lung adenocarcinoma, Li-Fraumeni syndromeUterine Carcinosarcoma,
Glioblastoma, Malignant melanoma of skin, Pancreatic adenocarcinoma,
Breast neoplasm, Hepatocellular carcinoma, Squamous cell lung carcinoma,
Neoplasm of ovary, Acute myeloid leukemia, Small cell lung carcinoma,
Malignant neoplasm of body of uterus, Hereditary cancer-predisposing syndrome, ...see more
Conflicting interpretations of pathogenicity
(Dec 30, 2020)
criteria provided, conflicting interpretationsVCV000376606
93.
GRCh37:
Chr17:7577142
GRCh38:
Chr17:7673824
TP53G134R, G227R, G266R, G107ROvarian Serous Cystadenocarcinoma, Squamous cell carcinoma of the skin, Neoplasm of brain,
Uterine Carcinosarcoma, Glioblastoma, Transitional cell carcinoma of the bladder,
Chronic lymphatic leukemia, Hepatocellular carcinoma, Breast neoplasm,
Squamous cell lung carcinoma, Lung adenocarcinomaMalignant melanoma of skin,
Small cell lung carcinoma, Li-Fraumeni syndrome, Malignant neoplasm of body of uterus,
Neoplasm of the large intestine, Squamous cell carcinoma of the head and neck, Carcinoma of esophagus,
Pancreatic adenocarcinoma, Hereditary cancer-predisposing syndrome, ...see more
Conflicting interpretations of pathogenicity
(Jul 2, 2019)
criteria provided, conflicting interpretationsVCV000376605
94.
GRCh37:
Chr17:7577548
GRCh38:
Chr17:7674230
TP53G113R, G206R, G245R, G86RNeoplasm of the large intestine, Glioblastoma, Neoplasm of brain,
Uterine Carcinosarcoma, Adenocarcinoma of stomach, Brainstem glioma,
Transitional cell carcinoma of the bladder, Squamous cell carcinoma of the head and neck, Adenocarcinoma of prostate,
Hereditary cancer-predisposing syndrome, Breast neoplasmHepatocellular carcinoma,
Squamous cell lung carcinoma, Lung adenocarcinoma, Li-Fraumeni syndrome,
Ovarian Serous Cystadenocarcinoma, Carcinoma of esophagus, Pancreatic adenocarcinoma,
...see more
Conflicting interpretations of pathogenicity
(Dec 29, 2019)
criteria provided, conflicting interpretationsVCV000376604
95.
GRCh37:
Chr17:7577547
GRCh38:
Chr17:7674229
TP53G113V, G206V, G245V, G86Vnot provided, Li-Fraumeni syndrome, Adenocarcinoma of stomach,
Glioblastoma, Uterine Carcinosarcoma, Hereditary cancer-predisposing syndrome,
Brainstem glioma, Transitional cell carcinoma of the bladder, Neoplasm of brain,
Squamous cell lung carcinoma, Squamous cell carcinoma of the head and neckAdenocarcinoma of prostate,
Pancreatic adenocarcinoma, Breast neoplasm, Hepatocellular carcinoma,
Lung adenocarcinoma, Ovarian Serous Cystadenocarcinoma, Neoplasm of the large intestine,
Carcinoma of esophagus, ...see more
Pathogenic
(Sep 17, 2020)
criteria provided, multiple submitters, no conflictsVCV000376603
96.
GRCh37:
Chr17:7577551
GRCh38:
Chr17:7674233
TP53G112R, G205R, G244R, G85RSmall cell lung carcinoma, Ovarian Serous Cystadenocarcinoma, Adenocarcinoma of stomach,
Glioblastoma, Carcinoma of esophagus, Uterine Carcinosarcoma,
Neoplasm of brain, Hepatocellular carcinoma, Lung adenocarcinoma,
Squamous cell lung carcinoma, Squamous cell carcinoma of the head and neckMalignant neoplasm of body of uterus,
Neoplasm of the large intestine, ...see more
Likely pathogenic
(May 31, 2016)
no assertion criteria providedVCV000376602
97.
GRCh37:
Chr17:7577550
GRCh38:
Chr17:7674232
TP53G112V, G205V, G244V, G85VSmall cell lung carcinoma, Squamous cell carcinoma of the head and neck, Neoplasm of brain,
Uterine Carcinosarcoma, Adenocarcinoma of stomach, Glioblastoma,
Carcinoma of esophagus, Neoplasm of ovary, Hepatocellular carcinoma,
Lung adenocarcinoma, Squamous cell lung carcinomaMalignant neoplasm of body of uterus,
Ovarian Serous Cystadenocarcinoma, Neoplasm of the large intestine, ...see more
Likely pathogenic
(Dec 1, 2018)
no assertion criteria providedVCV000376601
98.
GRCh37:
Chr17:7577551
GRCh38:
Chr17:7674233
TP53G112S, G205S, G244S, G85SHepatocellular carcinoma, Small cell lung carcinoma, Lung adenocarcinoma,
Ovarian Serous Cystadenocarcinoma, Neoplasm of the large intestine, Carcinoma of esophagus,
Uterine Carcinosarcoma, Adenocarcinoma of stomach, Glioblastoma,
Hereditary cancer-predisposing syndrome, Neoplasm of brainSquamous cell carcinoma of the head and neck,
Rhabdomyosarcoma, Squamous cell lung carcinoma, Li-Fraumeni syndrome,
Malignant neoplasm of body of uterus, ...see more
Pathogenic
(Sep 17, 2020)
criteria provided, multiple submitters, no conflictsVCV000376600
99.
GRCh37:
Chr17:7577551
GRCh38:
Chr17:7674233
TP53G112C, G205C, G244C, G85CSquamous cell carcinoma of the head and neck, Ovarian Serous Cystadenocarcinoma, Neoplasm of the large intestine,
Carcinoma of esophagus, Familial cancer of breast, Neoplasm of brain,
Lung adenocarcinoma, Uterine Carcinosarcoma, Adenocarcinoma of stomach,
Glioblastoma, not providedHepatocellular carcinoma,
Small cell lung carcinoma, Squamous cell lung carcinoma, Li-Fraumeni syndrome,
Malignant neoplasm of body of uterus, ...see more
Conflicting interpretations of pathogenicity
(Dec 30, 2019)
criteria provided, conflicting interpretationsVCV000376599
100.
GRCh37:
Chr17:7577130
GRCh38:
Chr17:7673812
TP53F138V, F231V, F270V, F111VOvarian Serous Cystadenocarcinoma, Adenocarcinoma of stomach, Squamous cell carcinoma of the head and neck,
Neoplasm of brain, Squamous cell carcinoma of the skin, Breast neoplasm,
Squamous cell lung carcinoma, Lung adenocarcinoma, Carcinoma of esophagus,
Hereditary cancer-predisposing syndrome
Uncertain significance
(Oct 2, 2018)
criteria provided, single submitterVCV000376598
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