A total 1384 pathogenic variants reported in gene tumor protein p53 (TP53)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000546.6(TP53):c.97-2A>C SNV
Unknown		 Chr17:7676274 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440133
NM_000546.6(TP53):c.672+1G>C SNV
Germline		 Chr17:7674858 Pathogenic/Likely pathogenic Condition: not provided
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003222898RCV004285584
NM_000546.6(TP53):c.719G>A (p.Ser240Asn) SNV
Somatic		 Chr17:7674244 Pathogenic Acute myeloid leukemia No Assertion Criteria Provided

1 SubmittersRCV003229539
NM_000546.6(TP53):c.549A>T (p.Ser183=) SNV
Somatic		 Chr17:7675063 Pathogenic Acute myeloid leukemia No Assertion Criteria Provided

1 SubmittersRCV003229553
NM_000546.6(TP53):c.112C>T (p.Gln38Ter) SNV
Unknown		 Chr17:7676257 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440023
NM_000546.6(TP53):c.560-2A>G SNV
Unknown		 Chr17:7674973 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440060
NM_000546.6(TP53):c.806G>T (p.Ser269Ile) SNV
Somatic		 Chr17:7673814 Likely pathogenic Acute myeloid leukemia No Assertion Criteria Provided

1 SubmittersRCV003320341
NM_000546.6(TP53):c.801G>C (p.Arg267=) SNV
Somatic		 Chr17:7673819 Likely pathogenic Acute myeloid leukemia No Assertion Criteria Provided

1 SubmittersRCV003320344
NM_000546.6(TP53):c.977A>T (p.Glu326Val) SNV
Somatic		 Chr17:7673551 Likely pathogenic Acute myeloid leukemia No Assertion Criteria Provided

1 SubmittersRCV003326290
NM_000546.6(TP53):c.782+1G>C SNV
Unknown		 Chr17:7674180 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440069
NM_000546.6(TP53):c.494A>T (p.Gln165Leu) SNV
Somatic		 Chr17:7675118 Pathogenic Acute myeloid leukemia No Assertion Criteria Provided

1 SubmittersRCV003234763
NM_000546.6(TP53):c.560-1G>T SNV
Unknown		 Chr17:7674972 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440153
NM_000546.6(TP53):c.617T>A (p.Leu206Ter) SNV
Unknown		 Chr17:7674914 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440232
NM_000546.6(TP53):c.920-2A>C SNV
Unknown		 Chr17:7673610 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440368
NM_000546.6(TP53):c.96+2T>G SNV
Germline		 Chr17:7676380 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003368551
NM_000546.6(TP53):c.325T>A (p.Phe109Ile) SNV
Germline		 Chr17:7676044 Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003387704
NM_000546.6(TP53):c.1100+1G>T SNV
Unknown		 Chr17:7670608 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440339
NM_000546.6(TP53):c.702C>A (p.Tyr234Ter) SNV
Germline		 Chr17:7674261 Pathogenic TP53-related disorder
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003400069RCV003621705RCV004362837
NM_000546.6(TP53):c.708C>A (p.Tyr236Ter) SNV
Unknown		 Chr17:7674255 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV003477387
NM_000546.6(TP53):c.776A>C (p.Asp259Ala) SNV
Somatic		 Chr17:7674187 Pathogenic Malignant lymphoma, large B-cell, diffuse No Assertion Criteria Provided

1 SubmittersRCV003449010
NM_000546.6(TP53):c.1023C>A (p.Phe341Leu) SNV
Germline		 Chr17:7670686 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004016228RCV004371957
NM_000546.6(TP53):c.1051A>T (p.Lys351Ter) SNV
Somatic		 Chr17:7670658 Pathogenic Lung adenocarcinoma
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003129624RCV004245991
NM_000546.6(TP53):c.782+2T>C SNV
Unknown		 Chr17:7674179 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003140387
NM_000546.6(TP53):c.513G>T (p.Glu171Asp) SNV
Somatic		 Chr17:7675099 Pathogenic Acute myeloid leukemia No Assertion Criteria Provided

1 SubmittersRCV003159585
NM_000546.6(TP53):c.714T>A (p.Cys238Ter) SNV
Germline		 Chr17:7674249 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004518777
NM_000546.6(TP53):c.398T>A (p.Met133Lys) SNV
Somatic		 Chr17:7675214 Likely pathogenic Breast carcinoma No Assertion Criteria Provided

1 SubmittersRCV003128121
NM_000546.6(TP53):c.1171G>A (p.Asp391Asn) SNV
Germline		 Chr17:7669620 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004518764RCV004573481
NM_000546.6(TP53):c.782+2T>A SNV
Germline		 Chr17:7674179 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003214087
NM_000546.6(TP53):c.757A>C (p.Thr253Pro) SNV
Germline		 Chr17:7674206 Likely pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004442665RCV004442664
NM_000546.6(TP53):c.627A>C (p.Arg209Ser) SNV
Germline		 Chr17:7674904 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003177174RCV004572869
NM_000546.6(TP53):c.1066G>A (p.Gly356Arg) SNV
Germline		 Chr17:7670643 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome Criteria Provided
Conflicting Classifications

2 SubmittersRCV003585848
NM_000546.6(TP53):c.853G>T (p.Glu285Ter) SNV
Germline		 Chr17:7673767 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003510292
NM_000546.6(TP53):c.919G>A (p.Ala307Thr) SNV
Germline		 Chr17:7673701 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003622572RCV004371656
NM_000546.6(TP53):c.812A>T (p.Glu271Val) SNV
Unknown		 Chr17:7673808 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004437827
NM_000546.6(TP53):c.920-2A>T SNV
Germline		 Chr17:7673610 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003184920
NM_000546.6(TP53):c.339C>A (p.Phe113Leu) SNV
Germline		 Chr17:7676030 Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003049541
NM_000546.6(TP53):c.920-17C>A SNV
Germline		 Chr17:7673625 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA287486535 rs_911934766

6 SubmittersRCV000584286RCV001683597RCV002061962RCV002289877RCV003492112
NM_000546.6(TP53):c.920-1G>T SNV
Germline/somatic		 Chr17:7673609 Pathogenic Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397836174 rs_587781702

5 SubmittersRCV000563356RCV000785455RCV001672879RCV001553698RCV002289799
NM_000546.6(TP53):c.772G>T (p.Glu258Ter) SNV
Germline/somatic		 Chr17:7674191 Pathogenic Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397837685 rs_121912652

5 SubmittersRCV000565601RCV000785351RCV002289838RCV003767233
NM_000546.6(TP53):c.673-4C>G SNV
Germline		 Chr17:7674294 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA658656528 rs_1555525586

4 SubmittersRCV000563494RCV000695775RCV002289823
NM_000546.6(TP53):c.548C>T (p.Ser183Leu) SNV
Germline		 Chr17:7675064 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA397841206 rs_1555525970

3 SubmittersRCV000565655RCV002289784RCV001363399
NM_000546.6(TP53):c.532C>G (p.His178Asp) SNV
Germline		 Chr17:7675080 Likely pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Reviewed By Expert Panel
 CA397841387 rs_1064795203

5 SubmittersRCV000575494RCV000633339RCV002254704
NM_000546.6(TP53):c.493C>A (p.Gln165Lys) SNV
Germline		 Chr17:7675119 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA397841869 rs_730882001

2 SubmittersRCV000573450RCV002530257
NM_000546.6(TP53):c.470T>A (p.Val157Asp) SNV
Germline		 Chr17:7675142 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA397842047 rs_1131691023

3 SubmittersRCV000561132RCV000807881RCV004024481
NM_000546.6(TP53):c.385G>A (p.Ala129Thr) SNV
Germline		 Chr17:7675227 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA397842995 rs_1438095083

3 SubmittersRCV000567140RCV002526838
NM_000546.6(TP53):c.343C>A (p.His115Asn) SNV
Germline		 Chr17:7676026 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA397844462 rs_1555526532

3 SubmittersRCV000576064RCV000821053RCV002289788
NM_000546.6(TP53):c.244C>G (p.Pro82Ala) SNV
Germline		 Chr17:7676125 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA397845525 rs_1555526664

4 SubmittersRCV000573848RCV002528018
NM_000546.6(TP53):c.198G>A (p.Met66Ile) SNV
Germline		 Chr17:7676171 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA397846006 rs_1555526711

4 SubmittersRCV000565744RCV003621547RCV002289791
NM_000546.6(TP53):c.4G>A (p.Glu2Lys) SNV
Germline		 Chr17:7676591 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA004009 rs_769884991

5 SubmittersRCV000579480RCV000695387RCV001755968RCV002289853
NM_000546.6(TP53):c.973G>A (p.Gly325Arg) SNV
Germline		 Chr17:7673555 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA397835820 rs_863224500

2 SubmittersRCV000568856RCV002509444
NM_000546.6(TP53):c.96+12G>C SNV
Germline		 Chr17:7676370 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA003522 rs_779577884

3 SubmittersRCV000582066RCV002530809
NM_000546.6(TP53):c.73C>T (p.Leu25=) SNV
Germline		 Chr17:7676522 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA497719631 rs_1555526988

2 SubmittersRCV000583961RCV001853946
NM_000546.6(TP53):c.993+284C>T SNV
Germline		 Chr17:7673251 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA001038 rs_554738122

2 SubmittersRCV000583565RCV000662812
NM_000546.6(TP53):c.953C>T (p.Pro318Leu) SNV
Germline		 Chr17:7673575 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA397835952 rs_1555524975

5 SubmittersRCV000584424RCV002289878RCV003767316
NM_000546.6(TP53):c.673-3T>C SNV
Germline		 Chr17:7674293 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA624726688 rs_1214646363

4 SubmittersRCV000581448RCV000605146RCV001860105
NM_000546.6(TP53):c.1177G>A (p.Asp393Asn) SNV
Germline		 Chr17:7669614 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA397829958 rs_1192921623

4 SubmittersRCV000584379RCV001853944RCV002289863
NM_000546.6(TP53):c.993+309C>T SNV
Germline		 Chr17:7673226 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA000994 rs_758194998

2 SubmittersRCV000582476RCV000608773
NM_000546.6(TP53):c.831T>A (p.Cys277Ter) SNV
Germline		 Chr17:7673789 Pathogenic Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397836898 rs_1057523347

4 SubmittersRCV000582104RCV000793572RCV004024646RCV002431737
NM_000546.6(TP53):c.560-1G>C SNV
Germline/somatic		 Chr17:7674972 Pathogenic Condition: not provided
Rhabdomyosarcoma
Neoplasm of ovary
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397840948 rs_1202793339

6 SubmittersRCV000584518RCV001257521RCV000785458RCV001867897RCV002350408
NM_000546.6(TP53):c.318C>G (p.Ser106Arg) SNV
Germline		 Chr17:7676051 Likely pathogenic not specified
Li-Fraumeni syndrome		 Criteria Provided
Single Submitter
 CA397844688 rs_1555526581

2 SubmittersRCV000582529RCV001055662
NM_000546.6(TP53):c.919+1G>T SNV
Germline/somatic		 Chr17:7673700 Likely pathogenic Condition: not provided
Colorectal cancer
Li-Fraumeni syndrome 1		 Criteria Provided
Single Submitter
 CA397836242 rs_1131691039

3 SubmittersRCV000786817RCV001789778RCV004024666
NM_000546.6(TP53):c.382C>A (p.Pro128Thr) SNV
Germline		 Chr17:7675230 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA397843906 rs_1555526327

6 SubmittersRCV000569462RCV000633349RCV002289789RCV003492102
NM_000546.6(TP53):c.974G>A (p.Gly325Glu) SNV
Germline		 Chr17:7673554 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 CA397835817 rs_121912659

5 SubmittersRCV000566077RCV001217424RCV003476325
NM_000546.6(TP53):c.434T>A (p.Leu145Gln) SNV
Germline/somatic		 Chr17:7675178 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA397842430 rs_587782197

7 SubmittersRCV000565971RCV000785310RCV001537369RCV003621548RCV004024460
NM_000546.6(TP53):c.406C>G (p.Gln136Glu) SNV
Germline		 Chr17:7675206 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA397842769 rs_1555526268

3 SubmittersRCV000572692RCV001352113RCV002289793
NM_000546.6(TP53):c.825T>G (p.Cys275Trp) SNV
Germline/somatic		 Chr17:7673795 Likely pathogenic Hereditary cancer-predisposing syndrome
Neoplasm of ovary		 Criteria Provided
Single Submitter
 CA397836936 rs_1555525279

2 SubmittersRCV000561423RCV000785448
NM_000546.6(TP53):c.376-4A>T SNV
Germline		 Chr17:7675240 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA397843997 rs_1221388024

4 SubmittersRCV000564076RCV001451701
NM_000546.6(TP53):c.160T>C (p.Phe54Leu) SNV
Germline		 Chr17:7676209 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA397846436 rs_1555526742

2 SubmittersRCV000571144RCV003621549
NM_000546.6(TP53):c.96+1G>T SNV
Germline/somatic		 Chr17:7676381 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
11 conditions
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397848251 rs_1131691003

6 SubmittersRCV000566426RCV000763420RCV001203248RCV002289813RCV003320444
NM_000546.6(TP53):c.673G>A (p.Val225Ile) SNV
Germline		 Chr17:7674290 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA397839539 rs_746504075

3 SubmittersRCV000571914RCV002289785RCV001216966
NM_000546.6(TP53):c.776A>T (p.Asp259Val) SNV
Germline		 Chr17:7674187 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA397837621 rs_745425759

5 SubmittersRCV000563029RCV000663222RCV002526892
NM_000546.6(TP53):c.738G>A (p.Met246Ile) SNV
Germline		 Chr17:7674225 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA287487993 rs_1019340046

3 SubmittersRCV000561491RCV000633390RCV003483672
NM_000546.6(TP53):c.712T>A (p.Cys238Ser) SNV
Germline		 Chr17:7674251 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA397839198 rs_1057519981

2 SubmittersRCV000565464RCV003509567
NM_000546.6(TP53):c.400T>A (p.Phe134Ile) SNV
Germline		 Chr17:7675212 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397842840 rs_267605077

2 SubmittersRCV000565274RCV004024466
NM_000546.6(TP53):c.27C>G (p.Ser9Arg) SNV
Germline		 Chr17:7676568 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA003949 rs_757282628

3 SubmittersRCV000587100RCV001016639RCV002289886
NM_000546.6(TP53):c.275C>T (p.Pro92Leu) SNV
Germline		 Chr17:7676094 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA397845138 rs_1210700121

5 SubmittersRCV000566433RCV000811514RCV002289782
NM_000546.6(TP53):c.263C>T (p.Ala88Val) SNV
Germline		 Chr17:7676106 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA397845305 rs_1555526631

3 SubmittersRCV000565147RCV001322778RCV002289783
NM_000546.6(TP53):c.454C>T (p.Pro152Ser) SNV
Germline		 Chr17:7675158 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Glioma susceptibility 1		 Criteria Provided
Conflicting Classifications
 CA002580 rs_767328513

3 SubmittersRCV000570923RCV001367015RCV002272288
NM_000546.6(TP53):c.214C>T (p.Pro72Ser) SNV
Germline		 Chr17:7676155 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA003069 rs_587782769

2 SubmittersRCV000573116RCV002304214
NM_000546.6(TP53):c.376-1G>A SNV
Germline/somatic		 Chr17:7675237 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Li-Fraumeni syndrome
Condition: not provided
Lip and oral cavity carcinoma
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA287488727 rs_868137297

9 SubmittersRCV000570638RCV000785531RCV000800144RCV000786836RCV001255670RCV002289803
NM_000546.6(TP53):c.375+2T>G SNV
Germline		 Chr17:7675992 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397844129 rs_1555526469

3 SubmittersRCV003767131RCV000571256RCV000786838
NM_000546.6(TP53):c.375G>C (p.Thr125=) SNV
Germline/somatic		 Chr17:7675994 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
TP53-related disorder
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA497926317 rs_55863639

6 SubmittersRCV000570944RCV002508940RCV003509563RCV003403351RCV003476320RCV004024459
NM_000546.6(TP53):c.98C>A (p.Ser33Tyr) SNV
Germline		 Chr17:7676271 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA397848079 rs_1555526832

3 SubmittersRCV000561224RCV000819381RCV002289812
NM_000546.6(TP53):c.121G>A (p.Asp41Asn) SNV
Germline		 Chr17:7676248 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA397847025 rs_1555526789

3 SubmittersRCV000562780RCV000822098RCV002289833
NM_000546.6(TP53):c.1038G>C (p.Glu346Asp) SNV
Germline		 Chr17:7670671 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA397832451 rs_1555524406

2 SubmittersRCV000562934RCV001865731
NM_000546.6(TP53):c.994-2A>G SNV
Germline		 Chr17:7670717 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA287485766 rs_867389695

5 SubmittersRCV000572283RCV000786813RCV003338668RCV003117344
NM_000546.6(TP53):c.718A>G (p.Ser240Gly) SNV
Germline		 Chr17:7674245 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Squamous cell carcinoma of the head and neck
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1567549584

4 SubmittersRCV000709404RCV000989712RCV002289986RCV002289987
NM_000546.6(TP53):c.242C>T (p.Thr81Ile) SNV
Germline		 Chr17:7676127 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567556386

2 SubmittersRCV000707346RCV002458325
NM_000546.6(TP53):c.205G>A (p.Ala69Thr) SNV
Germline		 Chr17:7676164 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_1567556618

4 SubmittersRCV000698086RCV001183319RCV002289975
NM_000546.6(TP53):c.151G>T (p.Glu51Ter) SNV
Germline		 Chr17:7676218 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_1567556930

1 SubmittersRCV000689241
NM_000546.6(TP53):c.116C>T (p.Ala39Val) SNV
Germline		 Chr17:7676253 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary breast ovarian cancer syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1353016807

4 SubmittersRCV000690309RCV002225719RCV002289967RCV002289968
NM_000546.6(TP53):c.950A>G (p.Gln317Arg) SNV
Germline		 Chr17:7673578 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
TP53-related disorder		 Criteria Provided
Conflicting Classifications
 rs_1159579789

3 SubmittersRCV000704730RCV002369956RCV003424300
NM_000546.6(TP53):c.310C>T (p.Gln104Ter) SNV
Germline/somatic		 Chr17:7676059 Pathogenic Li-Fraumeni syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1567555934

3 SubmittersRCV000686865RCV000785541RCV004026248
NM_000546.6(TP53):c.304A>T (p.Thr102Ser) SNV
Germline		 Chr17:7676065 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_1567555968

4 SubmittersRCV000706015RCV000771730RCV002289983
NM_000546.6(TP53):c.219G>A (p.Val73=) SNV
Germline		 Chr17:7676150 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567556473

2 SubmittersRCV000705498RCV004026692
NM_000546.6(TP53):c.211C>G (p.Pro71Ala) SNV
Germline		 Chr17:7676158 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_1567556576

5 SubmittersRCV000700185RCV001805814RCV002289977
NM_000546.6(TP53):c.1118A>G (p.Lys373Arg) SNV
Germline		 Chr17:7669673 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_1567540504

5 SubmittersRCV000700219RCV000771476RCV002289978
NM_000546.6(TP53):c.814G>C (p.Val272Leu) SNV
Germline		 Chr17:7673806 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_121912657

2 SubmittersRCV000696673RCV002422533
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter) SNV
Germline/somatic		 Chr17:7675234 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Adrenal cortex carcinoma
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1
Gastric cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1567554500

6 SubmittersRCV000702157RCV002343542RCV003999725RCV003472237RCV004026584RCV003165877
NM_000546.6(TP53):c.110C>T (p.Ser37Phe) SNV
Germline		 Chr17:7676259 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567557177

2 SubmittersRCV000688189RCV004026290
NM_000546.6(TP53):c.184G>T (p.Glu62Ter) SNV
Germline		 Chr17:7676185 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 rs_1567556752

1 SubmittersRCV000754578
NM_000546.6(TP53):c.1147C>T (p.Leu383Phe) SNV
Germline		 Chr17:7669644 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_150842067

3 SubmittersRCV001017468RCV000759368
NM_000546.6(TP53):c.819T>C (p.Arg273=) SNV
Germline		 Chr17:7673801 Conflicting classifications of pathogenicity Condition: not provided
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567547965

2 SubmittersRCV000760101RCV003621570
NM_000546.6(TP53):c.489C>G (p.Tyr163Ter) SNV
Germline		 Chr17:7675123 Pathogenic Condition: not provided
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1567553246

2 SubmittersRCV000759375RCV003509597
NM_000546.6(TP53):c.873G>C (p.Lys291Asn) SNV
Germline		 Chr17:7673747 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_372613518

4 SubmittersRCV000820689RCV000774787RCV002290023
NM_000546.6(TP53):c.868C>G (p.Arg290Gly) SNV
Germline		 Chr17:7673752 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 rs_770374782

3 SubmittersRCV000773647RCV002534085
NM_000546.6(TP53):c.625A>G (p.Arg209Gly) SNV
Germline		 Chr17:7674906 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 rs_1429743956

4 SubmittersRCV000771676RCV002290014RCV001237388
NM_000546.6(TP53):c.101C>G (p.Pro34Arg) SNV
Germline		 Chr17:7676268 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 rs_1322947350

4 SubmittersRCV000772948RCV002290017RCV002536641
NM_000546.6(TP53):c.672+1G>T SNV
Germline/somatic		 Chr17:7674858 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Condition: not provided
Li-Fraumeni syndrome
Breast carcinoma
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_863224499

7 SubmittersRCV000776760RCV000785529RCV000786829RCV001269151RCV001644809RCV002290025
NM_000546.6(TP53):c.869G>T (p.Arg290Leu) SNV
Germline		 Chr17:7673751 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Bone marrow failure syndrome 5
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 rs_55819519

4 SubmittersRCV000781912RCV001018200RCV001294068RCV001210557
NM_000546.6(TP53):c.919+1G>A SNV
Germline/somatic		 Chr17:7673700 Likely pathogenic Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Condition: not provided
Adrenocortical carcinoma, hereditary
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 rs_1131691039

7 SubmittersRCV000782136RCV000991150RCV001578272RCV003992389RCV003307417
NM_000546.6(TP53):c.919+8A>C SNV
Germline		 Chr17:7673693 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA658798700 rs_1555525043

2 SubmittersRCV000633415RCV003994053
NM_000546.6(TP53):c.782+1G>T SNV
Germline/somatic		 Chr17:7674180 Likely pathogenic Li-Fraumeni syndrome
Neoplasm of ovary
Condition: not provided
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397837531 rs_1555525429

4 SubmittersRCV000587342RCV000785462RCV000786822RCV004024677
NM_000546.6(TP53):c.672+2T>A SNV
Germline/somatic		 Chr17:7674857 Likely pathogenic Li-Fraumeni syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA397839761 rs_1555525703

2 SubmittersRCV000609770RCV001613395
NM_000546.6(TP53):c.993+4C>T SNV
Germline		 Chr17:7673531 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA658798695 rs_1555524942

3 SubmittersRCV001186308RCV001697982
NM_000546.6(TP53):c.782+6G>A SNV
Germline		 Chr17:7674175 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA287486810 rs_1008479744

4 SubmittersRCV000633399RCV001176035RCV001707837
NM_000546.6(TP53):c.1064C>T (p.Ala355Val) SNV
Germline		 Chr17:7670645 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 CA397832139 rs_1555524382

5 SubmittersRCV000633335RCV001009801RCV002289921RCV004568384
NM_000546.6(TP53):c.947C>T (p.Pro316Leu) SNV
Germline		 Chr17:7673581 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA397835981 rs_1555524979

3 SubmittersRCV000633395RCV001019395RCV002289935
NM_000546.6(TP53):c.631A>C (p.Thr211Pro) SNV
Germline		 Chr17:7674900 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA397840134 rs_1060501198

2 SubmittersRCV000633327RCV002360526
NM_000546.6(TP53):c.499C>T (p.Gln167Ter) SNV
Germline		 Chr17:7675113 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397841811 rs_1555526097

9 SubmittersRCV000633353RCV000663165RCV000657587RCV001023383RCV003471978
NM_000546.6(TP53):c.473G>T (p.Arg158Leu) SNV
Germline		 Chr17:7675139 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397842028 rs_587782144

6 SubmittersRCV000633348RCV001091169RCV002289922RCV002289923
NM_000546.6(TP53):c.375+2T>A SNV
Germline		 Chr17:7675992 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397844133 rs_1555526469

3 SubmittersRCV000633362RCV001021046RCV002289925
NM_000546.6(TP53):c.229C>T (p.Pro77Ser) SNV
Germline		 Chr17:7676140 Conflicting classifications of pathogenicity Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA397845619 rs_753085009

3 SubmittersRCV002289932RCV000633383RCV001015102
NM_000546.6(TP53):c.1014C>G (p.Phe338Leu) SNV
Germline		 Chr17:7670695 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA000848 rs_150293825

5 SubmittersRCV000576115RCV001322989RCV002289821
NM_000546.6(TP53):c.75-8T>C SNV
Germline		 Chr17:7676411 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA658798709 rs_1555526938

2 SubmittersRCV000633410RCV001766347
NM_000546.6(TP53):c.931A>C (p.Asn311His) SNV
Germline		 Chr17:7673597 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA397836105 rs_1555525007

3 SubmittersRCV000633334RCV000774977
NM_000546.6(TP53):c.920-4C>G SNV
Germline		 Chr17:7673612 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA658798696 rs_1555525022

3 SubmittersRCV001019000RCV000633413
NM_000546.6(TP53):c.993+1G>A SNV
Germline/somatic		 Chr17:7673534 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Neoplasm of ovary
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397835645 rs_11575997

6 SubmittersRCV000633368RCV000785467RCV000786816RCV002289929RCV002289928
NM_000546.6(TP53):c.766A>C (p.Thr256Pro) SNV
Germline		 Chr17:7674197 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA397837741 rs_587781433

4 SubmittersRCV000633389RCV001026685RCV002289933
NM_000546.6(TP53):c.752T>A (p.Ile251Asn) SNV
Germline/somatic		 Chr17:7674211 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Acute myeloid leukemia
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA397838901 rs_730882027

4 SubmittersRCV000633360RCV003228966RCV004025427
NM_000546.6(TP53):c.653T>G (p.Val218Gly) SNV
Germline		 Chr17:7674878 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA397839930 rs_1555525743

4 SubmittersRCV000633350RCV001175697RCV002289924
NM_000546.6(TP53):c.35C>T (p.Pro12Leu) SNV
Germline		 Chr17:7676560 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA397849144 rs_1482497533

5 SubmittersRCV000772527RCV000633363RCV002289926
NM_000546.6(TP53):c.1146A>G (p.Lys382=) SNV
Germline		 Chr17:7669645 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567540280

3 SubmittersRCV000690251RCV002458224
NM_000546.6(TP53):c.782+3C>T SNV
Germline		 Chr17:7674178 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_1555525425

5 SubmittersRCV000685199RCV000840660RCV002289959RCV002289958
NM_000546.6(TP53):c.534C>A (p.His178Gln) SNV
Germline		 Chr17:7675078 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1555526001

3 SubmittersRCV000698003RCV001023959RCV002307599
NM_000546.6(TP53):c.482C>A (p.Ala161Asp) SNV
Germline		 Chr17:7675130 Conflicting classifications of pathogenicity Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16620630 rs_1064795691

3 SubmittersRCV000481512RCV000552464RCV004023170
NM_000546.6(TP53):c.924G>C (p.Leu308=) SNV
Germline		 Chr17:7673604 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16615992 rs_786202546

5 SubmittersRCV000462950RCV000506600RCV000575062
NM_000546.6(TP53):c.740A>G (p.Asn247Ser) SNV
Germline		 Chr17:7674223 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16615997 rs_786201762

2 SubmittersRCV000457243RCV002379430
NM_000546.6(TP53):c.992A>G (p.Gln331Arg) SNV
Germline		 Chr17:7673536 Conflicting classifications of pathogenicity Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16620611 rs_1064795056

4 SubmittersRCV000479182RCV001037256RCV002289637RCV002289636
NM_000546.6(TP53):c.970G>C (p.Asp324His) SNV
Germline		 Chr17:7673558 Conflicting classifications of pathogenicity Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16620612 rs_1064794810

6 SubmittersRCV000478385RCV000555965RCV000573045RCV002289633
NM_000546.6(TP53):c.884C>T (p.Pro295Leu) SNV
Germline		 Chr17:7673736 Conflicting classifications of pathogenicity Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001416 rs_751713111

5 SubmittersRCV000486525RCV000633374RCV000774786
NM_000546.6(TP53):c.861G>C (p.Glu287Asp) SNV
Germline		 Chr17:7673759 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA001463 rs_748891343

6 SubmittersRCV000481706RCV000568299RCV001214612RCV002289642
NM_000546.6(TP53):c.853G>A (p.Glu285Lys) SNV
Germline/somatic		 Chr17:7673767 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Poly (ADP-Ribose) polymerase inhibitor response
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16620615 rs_112431538

6 SubmittersRCV000479542RCV000492206RCV000633365RCV000626449RCV002289628
NM_000546.6(TP53):c.836G>A (p.Gly279Glu) SNV
Germline/somatic		 Chr17:7673784 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
not specified
Squamous cell carcinoma of the head and neck
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA16620616 rs_1064793881

9 SubmittersRCV000484876RCV000492354RCV000785274RCV000584418RCV000989709RCV002289625RCV002526543
NM_000546.6(TP53):c.829T>C (p.Cys277Arg) SNV
Germline		 Chr17:7673791 Conflicting classifications of pathogenicity Condition: not provided
Li-Fraumeni syndrome
Familial cancer of breast
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16620617 rs_1064795369

4 SubmittersRCV000480494RCV000819627RCV002248705RCV002431408
NM_000546.6(TP53):c.749C>T (p.Pro250Leu) SNV
Germline		 Chr17:7674214 Pathogenic/Likely pathogenic Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16620620 rs_1064794311

4 SubmittersRCV000479937RCV000547538RCV001026502
NM_000546.6(TP53):c.685T>C (p.Cys229Arg) SNV
Germline		 Chr17:7674278 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA16620623 rs_1064794312

4 SubmittersRCV000482930RCV000492777RCV000633388
NM_000546.6(TP53):c.569C>T (p.Pro190Leu) SNV
Germline		 Chr17:7674962 Likely pathogenic Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA16620625 rs_876660825

5 SubmittersRCV000484792RCV000551566RCV001527084RCV002350050
NM_000546.6(TP53):c.941C>T (p.Ser314Phe) SNV
Germline		 Chr17:7673587 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 CA001234 rs_751440465

4 SubmittersRCV000456310RCV000570325RCV002289598RCV004567972
NM_000546.6(TP53):c.399G>A (p.Met133Ile) SNV
Germline		 Chr17:7675213 Conflicting classifications of pathogenicity Condition: not provided
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16620633 rs_1064795139

8 SubmittersRCV000484833RCV000662907RCV001052030RCV004568185RCV002289639
NM_000546.6(TP53):c.159G>A (p.Trp53Ter) SNV
Germline		 Chr17:7676210 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16620640 rs_1064794618

7 SubmittersRCV000480240RCV001012297RCV002289632RCV001236368RCV003464011
NM_000546.6(TP53):c.31G>A (p.Glu11Lys) SNV
Germline		 Chr17:7676564 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA003910 rs_201382018

7 SubmittersRCV000563270RCV000548671RCV000663228RCV001704594
NM_000546.6(TP53):c.1000G>T (p.Gly334Trp) SNV
Germline		 Chr17:7670709 Likely pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397832878 rs_730882028

3 SubmittersRCV000492343RCV002289665
NM_000546.6(TP53):c.993G>A (p.Gln331=) SNV
Germline/somatic		 Chr17:7673535 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10590137 rs_11575996

6 SubmittersRCV000492456RCV000521745RCV000685844RCV002289663
NM_000546.6(TP53):c.919+2T>G SNV
Germline/somatic		 Chr17:7673699 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397836235 rs_1131691016

5 SubmittersRCV000492618RCV000808655RCV001542803RCV002289666
NM_000546.6(TP53):c.919+1G>C SNV
Germline/somatic		 Chr17:7673700 Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Neoplasm of ovary
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397836244 rs_1131691039

4 SubmittersRCV000492089RCV000786818RCV000785296RCV004023283
NM_000546.6(TP53):c.826G>C (p.Ala276Pro) SNV
Germline/somatic		 Chr17:7673794 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Neoplasm of ovary
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 CA397836931 rs_1131691029

4 SubmittersRCV000492584RCV000705570RCV000785453RCV004568619
NM_000546.6(TP53):c.800G>C (p.Arg267Pro) SNV
Germline/somatic		 Chr17:7673820 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Acute myeloid leukemia		 Criteria Provided
Conflicting Classifications
 CA397837115 rs_587780075

3 SubmittersRCV000492273RCV000691629RCV003326137
NM_000546.6(TP53):c.737T>C (p.Met246Thr) SNV
Germline/somatic		 Chr17:7674226 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA397838998 rs_587780074

4 SubmittersRCV000492075RCV000704600RCV000785245RCV002289671
NM_000546.6(TP53):c.643A>C (p.Ser215Arg) SNV
Germline		 Chr17:7674888 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA397840019 rs_886039484

3 SubmittersRCV000492567RCV004023282RCV002523445
NM_000546.6(TP53):c.664C>T (p.Pro222Ser) SNV
Germline		 Chr17:7674867 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA16615720 rs_1060501203

4 SubmittersRCV000477098RCV000564109RCV003318578
NM_000546.6(TP53):c.932A>G (p.Asn311Ser) SNV
Germline		 Chr17:7673596 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16615690 rs_56184981

4 SubmittersRCV000473016RCV001805064RCV002289599
NM_000546.6(TP53):c.663G>A (p.Glu221=) SNV
Germline		 Chr17:7674868 Conflicting classifications of pathogenicity Condition: not provided
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA16615692 rs_1060504161

2 SubmittersRCV000483671RCV001421969
NM_000546.6(TP53):c.905G>A (p.Gly302Glu) SNV
Germline		 Chr17:7673715 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16615695 rs_1060501202

3 SubmittersRCV000468864RCV001018766RCV002289600
NM_000546.6(TP53):c.574C>T (p.Gln192Ter) SNV
Germline/somatic		 Chr17:7674957 Pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Li-Fraumeni syndrome 1
Adrenal cortex carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16615700 rs_866380588

6 SubmittersRCV000472712RCV001024481RCV001358339RCV002289596RCV004000747
NM_000546.6(TP53):c.783-2A>G SNV
Germline		 Chr17:7673839 Pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16615702 rs_1060501207

2 SubmittersRCV000464087RCV002411441
NM_000546.6(TP53):c.773A>G (p.Glu258Gly) SNV
Germline		 Chr17:7674190 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Bone osteosarcoma
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16615703 rs_1060501201

3 SubmittersRCV000459389RCV002272239RCV004022605
NM_000546.6(TP53):c.537T>A (p.His179Gln) SNV
Germline/somatic		 Chr17:7675075 Pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Acute myeloid leukemia		 Reviewed By Expert Panel
 CA16615708 rs_876660821

5 SubmittersRCV000464573RCV000567952RCV001527472RCV003159559
NM_000546.6(TP53):c.464C>A (p.Thr155Asn) SNV
Germline		 Chr17:7675148 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16615709 rs_786202752

6 SubmittersRCV000492645RCV000506226RCV000473602RCV002269272RCV004022603
NM_000546.6(TP53):c.329G>T (p.Arg110Leu) SNV
Germline/somatic		 Chr17:7676040 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1
Adrenal cortex carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA002845 rs_11540654

8 SubmittersRCV000473145RCV000492590RCV000785348RCV002289602RCV004000748
NM_000546.6(TP53):c.132G>A (p.Met44Ile) SNV
Germline		 Chr17:7676237 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16615713 rs_1060501190

3 SubmittersRCV000459820RCV001011072RCV002289589
NM_000546.6(TP53):c.103T>A (p.Leu35Met) SNV
Germline		 Chr17:7676266 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16615715 rs_1060501211

3 SubmittersRCV000470404RCV000572574RCV002289606
NM_000546.6(TP53):c.559+1G>A SNV
Germline		 Chr17:7675052 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
11 conditions
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397841068 rs_1131691042

9 SubmittersRCV000492159RCV000763418RCV000786834RCV001210960RCV002289678RCV003476180
NM_000546.6(TP53):c.530C>T (p.Pro177Leu) SNV
Germline		 Chr17:7675082 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16615728 rs_751477326

4 SubmittersRCV000477631RCV000759377RCV002348300
NM_000546.6(TP53):c.321C>A (p.Tyr107Ter) SNV
Germline		 Chr17:7676048 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 CA16615729 rs_770776262

1 SubmittersRCV000473161
NM_000546.6(TP53):c.313G>C (p.Gly105Arg) SNV
Germline		 Chr17:7676056 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16615732 rs_1060501195

3 SubmittersRCV000475325RCV000492606RCV002289594
NM_000546.6(TP53):c.79C>A (p.Pro27Thr) SNV
Germline		 Chr17:7676399 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16615735 rs_922736614

4 SubmittersRCV000468603RCV000986054RCV002289604RCV002289603
NM_000546.6(TP53):c.920-5C>A SNV
Germline		 Chr17:7673613 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16615935 rs_34361146

2 SubmittersRCV000471798RCV002374840
NM_000546.6(TP53):c.843C>A (p.Asp281Glu) SNV
Germline/somatic		 Chr17:7673777 Likely pathogenic Li-Fraumeni syndrome
Carcinoma of colon
Condition: not provided
Neoplasm of ovary
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16615937 rs_1057519984

5 SubmittersRCV000470818RCV000499361RCV000658764RCV000785325RCV002446795
NM_000546.6(TP53):c.811G>A (p.Glu271Lys) SNV
Germline		 Chr17:7673809 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		 Criteria Provided
Conflicting Classifications
 CA16615939 rs_1060501191

5 SubmittersRCV000457572RCV000775714RCV001815331RCV003315242
NM_000546.6(TP53):c.747G>C (p.Arg249Ser) SNV
Germline		 Chr17:7674216 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16615944 rs_28934571

2 SubmittersRCV000465003RCV004022606
NM_000546.6(TP53):c.646G>C (p.Val216Leu) SNV
Germline/somatic		 Chr17:7674885 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Squamous cell carcinoma of the head and neck		 Criteria Provided
Conflicting Classifications
 CA16615950 rs_730882025

2 SubmittersRCV000466409RCV001270272
NM_000546.6(TP53):c.139C>A (p.Pro47Thr) SNV
Germline		 Chr17:7676230 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16615959 rs_1800371

4 SubmittersRCV000463583RCV000774798RCV002289605
NM_000546.6(TP53):c.11C>G (p.Pro4Arg) SNV
Germline		 Chr17:7676584 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16615964 rs_878854064

3 SubmittersRCV000475451RCV001010274RCV002289597
NM_000546.6(TP53):c.289G>T (p.Val97Phe) SNV
Germline		 Chr17:7676080 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA397844977 rs_730882023

4 SubmittersRCV000545045RCV001526005RCV002289725
NM_000546.6(TP53):c.476C>T (p.Ala159Val) SNV
Germline		 Chr17:7675136 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397842017 rs_1555526131

5 SubmittersRCV000527533RCV001764539RCV002341276RCV003476227RCV004023788
NM_000546.6(TP53):c.377A>G (p.Tyr126Cys) SNV
Germline/somatic		 Chr17:7675235 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA397843956 rs_1555526335

6 SubmittersRCV000547041RCV000785493RCV001021115RCV002289730
NM_000546.6(TP53):c.341T>C (p.Leu114Ser) SNV
Germline		 Chr17:7676028 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
not specified
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA002835 rs_781724995

5 SubmittersRCV000537102RCV001177908RCV001821513RCV002289729
NM_000546.6(TP53):c.229C>A (p.Pro77Thr) SNV
Germline		 Chr17:7676140 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA003025 rs_753085009

3 SubmittersRCV000546598RCV000563835RCV002289723
NM_000546.6(TP53):c.677G>T (p.Gly226Val) SNV
Germline		 Chr17:7674286 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA287488077 rs_970212462

5 SubmittersRCV000542075RCV000572327RCV002289739RCV001591203
NM_000546.6(TP53):c.673-2A>G SNV
Germline/somatic		 Chr17:7674292 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Condition: not provided
Neoplasm of ovary
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397839547 rs_1555525585

7 SubmittersRCV000553068RCV000786824RCV000785307RCV002289737RCV002289738
NM_000546.6(TP53):c.530C>G (p.Pro177Arg) SNV
Germline		 Chr17:7675082 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA002428 rs_751477326

6 SubmittersRCV000540639RCV000565979RCV000582953RCV002289734
NM_000546.6(TP53):c.463A>G (p.Thr155Ala) SNV
Germline		 Chr17:7675149 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002539 rs_772683278

4 SubmittersRCV000534841RCV002289733RCV002289732RCV001563388
NM_000546.6(TP53):c.372C>A (p.Cys124Ter) SNV
Germline		 Chr17:7675997 Pathogenic Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Reviewed By Expert Panel
 CA397844214 rs_1555526478

3 SubmittersRCV000541004RCV004023787
NM_000546.6(TP53):c.1060C>T (p.Gln354Ter) SNV
Germline		 Chr17:7670649 Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 CA397832178 rs_755394212

1 SubmittersRCV000531178
NM_000546.6(TP53):c.835G>A (p.Gly279Arg) SNV
Germline		 Chr17:7673785 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 CA397836877 rs_1555525248

4 SubmittersRCV000547189RCV000566142RCV002267618RCV003459203
NM_000546.6(TP53):c.516T>G (p.Val172=) SNV
Germline		 Chr17:7675096 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA002450 rs_749309577

4 SubmittersRCV000556128RCV000578979RCV001023655
NM_000546.6(TP53):c.731G>C (p.Gly244Ala) SNV
Germline/somatic		 Chr17:7674232 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Lip and oral cavity carcinoma
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA287488006 rs_985033810

4 SubmittersRCV000548437RCV001255675RCV004023789RCV002384069
NM_000546.6(TP53):c.917G>A (p.Arg306Gln) SNV
Germline		 Chr17:7673703 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Squamous cell carcinoma of the head and neck
Li-Fraumeni syndrome
Condition: not provided
Familial cancer of breast
not specified
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 CA287486566 rs_1048095040

10 SubmittersRCV000561902RCV000989706RCV000527123RCV000986056RCV000664300RCV003330753RCV004568752
NM_000546.6(TP53):c.830G>T (p.Cys277Phe) SNV
Germline		 Chr17:7673790 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
TP53-related disorder
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA001518 rs_763098116

5 SubmittersRCV000532028RCV002431551RCV003409773RCV004023791
NM_000546.6(TP53):c.796G>A (p.Gly266Arg) SNV
Germline/somatic		 Chr17:7673824 Pathogenic Li-Fraumeni syndrome
Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397837142 rs_1057519990

5 SubmittersRCV000528667RCV000785497RCV001027016RCV002289744RCV004568751
NM_000546.6(TP53):c.388C>G (p.Leu130Val) SNV
Germline		 Chr17:7675224 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 CA287488714 rs_863224683

5 SubmittersRCV000536061RCV000565366RCV000759374RCV002289731RCV003459202
NM_000546.6(TP53):c.376-2A>T SNV
Germline/somatic		 Chr17:7675238 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Neoplasm of ovary
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397843977 rs_786202799

4 SubmittersRCV000532456RCV000785465RCV000786837RCV002350198
NM_000546.6(TP53):c.1054G>T (p.Asp352Tyr) SNV
Germline		 Chr17:7670655 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA397832246 rs_1555524394

3 SubmittersRCV000574074RCV001043167RCV002289807
NM_000546.6(TP53):c.1160C>G (p.Thr387Arg) SNV
Germline		 Chr17:7669631 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA287485465 rs_927888647

3 SubmittersRCV000569933RCV001035792
NM_000546.6(TP53):c.848G>C (p.Arg283Pro) SNV
Germline		 Chr17:7673772 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA397836790 rs_371409680

5 SubmittersRCV000565161RCV001731795RCV002289837RCV003767232
NM_000546.6(TP53):c.737T>A (p.Met246Lys) SNV
Germline		 Chr17:7674226 Likely pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397839001 rs_587780074

3 SubmittersRCV000574219RCV002289798RCV000797952
NM_000546.6(TP53):c.1104C>G (p.His368Gln) SNV
Germline		 Chr17:7669687 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 CA397830872 rs_1289241865

4 SubmittersRCV000575539RCV000798387RCV002289832RCV004569245
NM_000546.6(TP53):c.533A>C (p.His178Pro) SNV
Germline		 Chr17:7675079 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 CA397841366 rs_1555526004

3 SubmittersRCV000562255RCV001216080RCV003476347
NM_000546.6(TP53):c.617T>C (p.Leu206Ser) SNV
Germline		 Chr17:7674914 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA397840264 rs_1555525804

3 SubmittersRCV000507226RCV000566251RCV001049540
NM_000546.6(TP53):c.514G>T (p.Val172Phe) SNV
Germline		 Chr17:7675098 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA397841576 rs_1131691043

3 SubmittersRCV000492688RCV002527066RCV004023284
NM_000546.6(TP53):c.503A>G (p.His168Arg) SNV
Germline		 Chr17:7675109 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA287488569 rs_867114783

3 SubmittersRCV000492442RCV000702915RCV004023278
NM_000546.6(TP53):c.470T>C (p.Val157Ala) SNV
Germline		 Chr17:7675142 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Adrenal cortex carcinoma
Condition: not provided
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA397842041 rs_1131691023

5 SubmittersRCV000492393RCV000505579RCV002274041RCV002289672RCV003509552
NM_000546.6(TP53):c.438G>A (p.Trp146Ter) SNV
Germline/somatic		 Chr17:7675174 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Neoplasm of ovary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397842363 rs_1131691026

5 SubmittersRCV000492181RCV000633358RCV002289674RCV001527473
NM_000546.6(TP53):c.392A>T (p.Asn131Ile) SNV
Germline		 Chr17:7675220 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397842926 rs_1131691037

4 SubmittersRCV000492742RCV000821569RCV002289677
NM_000546.6(TP53):c.389T>C (p.Leu130Pro) SNV
Germline		 Chr17:7675223 Pathogenic Hereditary cancer-predisposing syndrome
12 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397842949 rs_1131691013

2 SubmittersRCV000492142RCV002475970
NM_000546.6(TP53):c.313G>A (p.Gly105Ser) SNV
Germline/somatic		 Chr17:7676056 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Adrenal cortex carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397844735 rs_1060501195

4 SubmittersRCV000492331RCV001379190RCV002289669RCV004003474
NM_000546.6(TP53):c.96+1G>C SNV
Germline		 Chr17:7676381 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397848258 rs_1131691003

4 SubmittersRCV000492543RCV002523444RCV003485592
NM_000546.6(TP53):c.75-2A>G SNV
Germline/somatic		 Chr17:7676405 Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397848502 rs_1131691020

4 SubmittersRCV000492315RCV001543700RCV001851347RCV002289668
NM_000546.6(TP53):c.1015G>T (p.Glu339Ter) SNV
Germline		 Chr17:7670694 Pathogenic Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
TP53-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397832685 rs_17882252

4 SubmittersRCV000505616RCV000689964RCV002341191RCV003409717
NM_000546.6(TP53):c.752T>C (p.Ile251Thr) SNV
Germline		 Chr17:7674211 Conflicting classifications of pathogenicity not specified
Li-Fraumeni syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA397838899 rs_730882027

4 SubmittersRCV000506798RCV001379962RCV001755753RCV002395222
NM_000546.6(TP53):c.919+2T>A SNV
Germline		 Chr17:7673699 Likely pathogenic Hereditary breast ovarian cancer syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 rs_1131691016

2 SubmittersRCV000782138RCV003884726
NM_000546.6(TP53):c.375+2T>C SNV
Germline		 Chr17:7675992 Pathogenic/Likely pathogenic Condition: not provided
Hereditary breast ovarian cancer syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397844132 rs_1555526469

5 SubmittersRCV000505908RCV000586625RCV000692558RCV002289693RCV002289694
NM_000546.6(TP53):c.478A>G (p.Met160Val) SNV
Germline		 Chr17:7675134 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 CA397841976 rs_377274728

5 SubmittersRCV000513585RCV000570720RCV001051011RCV004568658
NM_000546.6(TP53):c.949C>T (p.Gln317Ter) SNV
Germline		 Chr17:7673579 Pathogenic/Likely pathogenic Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397835973 rs_764735889

6 SubmittersRCV000520579RCV000615397RCV000583201RCV002289710
NM_000546.6(TP53):c.724T>C (p.Cys242Arg) SNV
Germline		 Chr17:7674239 Conflicting classifications of pathogenicity Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA397839073 rs_1057519982

5 SubmittersRCV000523905RCV001857954RCV002376961RCV004023543
NM_000546.6(TP53):c.596G>T (p.Gly199Val) SNV
Germline		 Chr17:7674935 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA397840476 rs_1555525857

1 SubmittersRCV000522967
NM_000546.6(TP53):c.128T>A (p.Leu43Ter) SNV
Germline		 Chr17:7676241 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA397846898 rs_1555526777

1 SubmittersRCV000521967
NM_000546.6(TP53):c.1165G>A (p.Gly389Arg) SNV
Germline		 Chr17:7669626 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA397830162 rs_587783064

2 SubmittersRCV000558251RCV002330841
NM_000546.6(TP53):c.925C>T (p.Pro309Ser) SNV
Germline		 Chr17:7673603 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA397836140 rs_1555525012

5 SubmittersRCV000537437RCV000574214RCV002289745
NM_000546.6(TP53):c.850A>T (p.Thr284Ser) SNV
Germline		 Chr17:7673770 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA397836761 rs_1204379654

5 SubmittersRCV000546011RCV000563243RCV001544620
NM_000546.6(TP53):c.783-1G>A SNV
Germline/somatic		 Chr17:7673838 Pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA397837303 rs_1555525367

5 SubmittersRCV000539601RCV000565712RCV002289743RCV001533211
NM_000546.6(TP53):c.770T>C (p.Leu257Pro) SNV
Germline		 Chr17:7674193 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA397837703 rs_28934577

3 SubmittersRCV000540536RCV004023790RCV003159760
NM_000546.6(TP53):c.702C>G (p.Tyr234Ter) SNV
Germline		 Chr17:7674261 Pathogenic Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2151021924

2 SubmittersRCV001381122RCV004037649
NM_000546.6(TP53):c.464C>T (p.Thr155Ile) SNV
Germline		 Chr17:7675148 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_786202752

2 SubmittersRCV001302824RCV004036257
NM_000546.6(TP53):c.825T>A (p.Cys275Ter) SNV
Germline		 Chr17:7673795 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter
 rs_1555525279

1 SubmittersRCV001310213
NM_000546.6(TP53):c.1179C>G (p.Asp393Glu) SNV
Germline		 Chr17:7669612 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2072829931

2 SubmittersRCV001326918RCV002341680
NM_000546.6(TP53):c.1027G>C (p.Glu343Gln) SNV
Germline		 Chr17:7670682 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_375573770

2 SubmittersRCV001314316RCV002384393
NM_000546.6(TP53):c.476C>A (p.Ala159Asp) SNV
Germline		 Chr17:7675136 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Prostate cancer, hereditary, 1
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1555526131

3 SubmittersRCV001326770RCV003483816RCV004035219
NM_000546.6(TP53):c.1064C>G (p.Ala355Gly) SNV
Germline		 Chr17:7670645 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555524382

2 SubmittersRCV001351201RCV003169742
NM_000546.6(TP53):c.904G>A (p.Gly302Arg) SNV
Germline		 Chr17:7673716 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_863224686

2 SubmittersRCV001352238RCV002377500
NM_000546.6(TP53):c.623A>T (p.Asp208Val) SNV
Germline		 Chr17:7674908 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1464727668

2 SubmittersRCV001338967RCV002368117
NM_000546.6(TP53):c.74+3G>A SNV
Germline		 Chr17:7676518 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1229638201

2 SubmittersRCV001337851RCV002384451
NM_000546.6(TP53):c.472C>A (p.Arg158Ser) SNV
Germline		 Chr17:7675140 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_587780068

1 SubmittersRCV001379294
NM_000546.6(TP53):c.75-1G>A SNV
Germline		 Chr17:7676404 Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151045740

1 SubmittersRCV001379766
NM_000546.6(TP53):c.958A>T (p.Lys320Ter) SNV
Germline		 Chr17:7673570 Pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2151011624

2 SubmittersRCV001389384RCV002384552
NM_000546.6(TP53):c.400T>G (p.Phe134Val) SNV
Germline/somatic		 Chr17:7675212 Conflicting classifications of pathogenicity Familial cancer of breast
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_267605077

3 SubmittersRCV001270266RCV001324043RCV004035436
NM_000546.6(TP53):c.321C>G (p.Tyr107Ter) SNV
Germline		 Chr17:7676048 Pathogenic Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_770776262

3 SubmittersRCV001386369RCV003321833RCV004037681
NM_000546.6(TP53):c.376-9T>A SNV
Germline		 Chr17:7675245 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2151034304

4 SubmittersRCV001400454RCV003321837RCV003584921
NM_000546.6(TP53):c.920-9C>T SNV
Germline		 Chr17:7673617 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1265260122

2 SubmittersRCV001496536RCV002258291
NM_000546.6(TP53):c.672+8T>G SNV
Germline		 Chr17:7674851 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 rs_763373602

2 SubmittersRCV001494475RCV001799092
NM_000546.6(TP53):c.811G>T (p.Glu271Ter) SNV
Germline/somatic		 Chr17:7673809 Pathogenic Neoplasm of ovary
Hereditary cancer-predisposing syndrome		 Criteria Provided
Single Submitter
 rs_1060501191

2 SubmittersRCV001527474RCV002421175
NM_000546.6(TP53):c.560-2A>C SNV
Germline/somatic		 Chr17:7674973 Pathogenic Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1427441061

4 SubmittersRCV001550216RCV002032580RCV002290721RCV002290720
NM_000546.6(TP53):c.993+2T>C SNV
Germline/somatic		 Chr17:7673533 Pathogenic/Likely pathogenic Condition: not provided
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1597359053

3 SubmittersRCV001553782RCV003621596RCV004571059
NM_000546.6(TP53):c.672+2T>C SNV
Germline/somatic		 Chr17:7674857 Pathogenic Condition: not provided
Li-Fraumeni syndrome		 Criteria Provided
Single Submitter
 rs_1555525703

2 SubmittersRCV001578274RCV002570814
NM_000546.6(TP53):c.376-1G>T SNV
Germline/somatic		 Chr17:7675237 Pathogenic Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_868137297

3 SubmittersRCV001580379RCV001882697RCV003375345
NM_000546.6(TP53):c.673-1G>C SNV
Germline/somatic		 Chr17:7674291 Pathogenic/Likely pathogenic Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_878854073

5 SubmittersRCV001614459RCV001873819RCV003298947RCV004039541
NM_000546.6(TP53):c.771G>A (p.Leu257=) SNV
Germline		 Chr17:7674192 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 rs_2151020056

3 SubmittersRCV001768395RCV002405312RCV003621607
NM_000546.6(TP53):c.100C>T (p.Pro34Ser) SNV
Germline		 Chr17:7676269 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_786201968

2 SubmittersRCV001204709RCV002436787
NM_000546.6(TP53):c.*1132C>T SNV
Germline		 Chr17:7668477 Conflicting classifications of pathogenicity Li-Fraumeni syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1044102603

2 SubmittersRCV001123114RCV002511047
NM_000546.6(TP53):c.470T>G (p.Val157Gly) SNV
Germline		 Chr17:7675142 Conflicting classifications of pathogenicity Breast and/or ovarian cancer
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1131691023

3 SubmittersRCV001170827RCV004032925RCV004032926
NM_000546.6(TP53):c.991C>T (p.Gln331Ter) SNV
Germline/somatic		 Chr17:7673537 Pathogenic Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1597359130

5 SubmittersRCV001183200RCV003332297RCV003509657RCV004033087
NM_000546.6(TP53):c.703A>G (p.Asn235Asp) SNV
Germline		 Chr17:7674260 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_786204145

4 SubmittersRCV001177820RCV001875860RCV004033013
NM_000546.6(TP53):c.684C>G (p.Asp228Glu) SNV
Germline		 Chr17:7674279 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_2073267220

4 SubmittersRCV001189231RCV001862990RCV002290625
NM_000546.6(TP53):c.534C>G (p.His178Gln) SNV
Germline		 Chr17:7675078 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1555526001

2 SubmittersRCV001218247RCV002348728
NM_000546.6(TP53):c.356C>G (p.Ala119Gly) SNV
Germline		 Chr17:7676013 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2073451331

2 SubmittersRCV001220864RCV004032401
NM_000546.6(TP53):c.311A>T (p.Gln104Leu) SNV
Germline		 Chr17:7676058 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2073460244

2 SubmittersRCV001216528RCV002322052
NM_000546.6(TP53):c.985A>G (p.Thr329Ala) SNV
Germline		 Chr17:7673543 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2073149675

2 SubmittersRCV001208476RCV002379789
NM_000546.6(TP53):c.490A>T (p.Lys164Ter) SNV
Germline		 Chr17:7675122 Pathogenic Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_879254249

2 SubmittersRCV001204080RCV004033601
NM_000546.6(TP53):c.379T>C (p.Ser127Pro) SNV
Germline		 Chr17:7675233 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1597371694

3 SubmittersRCV001202791RCV002365911RCV004033549
NM_000546.6(TP53):c.166G>T (p.Glu56Ter) SNV
Germline		 Chr17:7676203 Likely pathogenic Breast and/or ovarian cancer Criteria Provided
Single Submitter
 rs_2151042536

1 SubmittersRCV001799468
NM_000546.6(TP53):c.96+2T>A SNV
Germline		 Chr17:7676380 Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2073505429

1 SubmittersRCV001219251
NM_000546.6(TP53):c.1016A>T (p.Glu339Val) SNV
Germline		 Chr17:7670693 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1237829645

2 SubmittersRCV001233000RCV003166427
NM_000546.6(TP53):c.796G>T (p.Gly266Ter) SNV
Germline/somatic		 Chr17:7673824 Pathogenic Li-Fraumeni syndrome
Lung adenocarcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1057519990

2 SubmittersRCV001227077RCV003129744
NM_000546.6(TP53):c.794T>A (p.Leu265Gln) SNV
Germline		 Chr17:7673826 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_879253942

3 SubmittersRCV001225765RCV002418782
NM_000546.6(TP53):c.721T>A (p.Ser241Thr) SNV
Germline		 Chr17:7674242 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1057520002

2 SubmittersRCV001232537RCV004033172
NM_000546.6(TP53):c.626G>A (p.Arg209Lys) SNV
Germline/somatic		 Chr17:7674905 Conflicting classifications of pathogenicity Familial cancer of breast
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 rs_2073332791

2 SubmittersRCV001270279RCV001236518
NM_000546.6(TP53):c.850A>G (p.Thr284Ala) SNV
Germline		 Chr17:7673770 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1204379654

3 SubmittersRCV001239284RCV004034606
NM_000546.6(TP53):c.28G>T (p.Val10Phe) SNV
Germline		 Chr17:7676567 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_535274413

3 SubmittersRCV001243833RCV003294139
NM_000546.6(TP53):c.610G>T (p.Glu204Ter) SNV
Germline/somatic		 Chr17:7674921 Pathogenic Lip and oral cavity carcinoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2073336758

3 SubmittersRCV001255667RCV003166582RCV004035354
NM_000546.6(TP53):c.272G>A (p.Trp91Ter) SNV
Germline		 Chr17:7676097 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2073465664

3 SubmittersRCV001258110RCV003473842
NM_000546.6(TP53):c.840A>T (p.Arg280Ser) SNV
Germline/somatic		 Chr17:7673780 Conflicting classifications of pathogenicity Familial cancer of breast
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_1567547687

4 SubmittersRCV001270277RCV002447244RCV003509664RCV004035437
NM_000546.6(TP53):c.930C>T (p.Asn310=) SNV
Germline		 Chr17:7673598 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002371564RCV003621641
NM_000546.6(TP53):c.376T>C (p.Tyr126His) SNV
Germline		 Chr17:7675236 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002351076RCV003094357
NM_000546.6(TP53):c.512A>G (p.Glu171Gly) SNV
Germline		 Chr17:7675100 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002338161
NM_000546.6(TP53):c.653T>A (p.Val218Glu) SNV
Germline		 Chr17:7674878 Likely pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002364323RCV004054380
NM_000546.6(TP53):c.503A>T (p.His168Leu) SNV
Germline		 Chr17:7675109 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002335652
NM_000546.6(TP53):c.528C>A (p.Cys176Ter) SNV
Germline		 Chr17:7675084 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002344496RCV003327303
NM_000546.6(TP53):c.643A>T (p.Ser215Cys) SNV
Germline		 Chr17:7674888 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002361765RCV003103297
NM_000546.6(TP53):c.754C>G (p.Leu252Val) SNV
Germline		 Chr17:7674209 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002393970RCV003509732
NM_000546.6(TP53):c.761T>C (p.Ile254Thr) SNV
Germline/somatic		 Chr17:7674202 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Acute myeloid leukemia
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

5 SubmittersRCV002396262RCV002509835RCV003454197RCV003509733
NM_000546.6(TP53):c.799C>G (p.Arg267Gly) SNV
Germline		 Chr17:7673821 Pathogenic Hereditary cancer-predisposing syndrome
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002419114RCV003464488
NM_000546.6(TP53):c.711G>C (p.Met237Ile) SNV
Germline		 Chr17:7674252 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002367440RCV004055277
NM_000546.6(TP53):c.738G>C (p.Met246Ile) SNV
Germline		 Chr17:7674225 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002380451
NM_000546.6(TP53):c.850A>C (p.Thr284Pro) SNV
Germline		 Chr17:7673770 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002414414RCV003621639
NM_000546.6(TP53):c.37C>G (p.Pro13Ala) SNV
Germline		 Chr17:7676558 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002363952RCV003775735
NM_000546.6(TP53):c.995T>A (p.Ile332Asn) SNV
Germline		 Chr17:7670714 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002382949
NM_000546.6(TP53):c.158G>T (p.Trp53Leu) SNV
Germline		 Chr17:7676211 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002398408RCV003621650
NM_000546.6(TP53):c.1101C>T (p.Ser367=) SNV
Germline		 Chr17:7669690 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002433009RCV003621660
NM_000546.6(TP53):c.251C>T (p.Ala84Val) SNV
Germline		 Chr17:7676118 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002433030RCV004017935RCV004571148
NM_000546.6(TP53):c.221C>G (p.Ala74Gly) SNV
Germline		 Chr17:7676148 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002420116RCV003098730
NM_000546.6(TP53):c.256G>C (p.Ala86Pro) SNV
Germline		 Chr17:7676113 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002452757RCV003101984
NM_000546.6(TP53):c.281C>A (p.Ser94Ter) SNV
Germline		 Chr17:7676088 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002441793RCV003621665
NM_000546.6(TP53):c.1101-1G>C SNV
Germline		 Chr17:7669691 Pathogenic Gastric cancer No Assertion Criteria Provided

1 SubmittersRCV003164579
NM_000546.6(TP53):c.309C>A (p.Tyr103Ter) SNV
Germline		 Chr17:7676060 Pathogenic Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003041278RCV003321971RCV004070149
NM_000546.6(TP53):c.517G>C (p.Val173Leu) SNV
Germline		 Chr17:7675095 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002596262RCV004069069
NM_000546.6(TP53):c.394A>T (p.Lys132Ter) SNV
Germline		 Chr17:7675218 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002838608
NM_000546.6(TP53):c.378C>A (p.Tyr126Ter) SNV
Germline		 Chr17:7675234 Pathogenic Li-Fraumeni syndrome
Prostate cancer, hereditary, 1		 Criteria Provided
Single Submitter
 rs_1567554500

2 SubmittersRCV001994856RCV003483865
NM_000546.6(TP53):c.489C>A (p.Tyr163Ter) SNV
Germline		 Chr17:7675123 Pathogenic Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1567553246

2 SubmittersRCV001923859RCV004044131
NM_000546.6(TP53):c.751A>T (p.Ile251Phe) SNV
Germline		 Chr17:7674212 Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_730882007

1 SubmittersRCV002043568
NM_000546.6(TP53):c.823T>G (p.Cys275Gly) SNV
Germline		 Chr17:7673797 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_1057519983

3 SubmittersRCV001945198RCV003289221RCV004043418
NM_000546.6(TP53):c.1100+2T>A SNV
Germline		 Chr17:7670607 Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2150993637

1 SubmittersRCV002032317
NM_000546.6(TP53):c.649G>T (p.Val217Leu) SNV
Germline		 Chr17:7674882 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_35163653

2 SubmittersRCV001881329RCV002361164
NM_000546.6(TP53):c.-29+1G>C SNV
Germline		 Chr17:7687376 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2151082372

2 SubmittersRCV002031560RCV002441237
NM_000546.6(TP53):c.981T>A (p.Tyr327Ter) SNV
Germline		 Chr17:7673547 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_879254077

1 SubmittersRCV001874295
NM_000546.6(TP53):c.124G>A (p.Asp42Asn) SNV
Germline		 Chr17:7676245 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_756847009

2 SubmittersRCV001975531RCV004042155
NM_000546.6(TP53):c.632C>T (p.Thr211Ile) SNV
Germline		 Chr17:7674899 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_2073331490

3 SubmittersRCV002022697RCV003481246RCV004046067
NM_000546.6(TP53):c.810T>A (p.Phe270Leu) SNV
Germline		 Chr17:7673810 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1057519987

2 SubmittersRCV001940898RCV004042022
NM_000546.6(TP53):c.1112C>A (p.Ser371Tyr) SNV
Germline		 Chr17:7669679 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2150988837

2 SubmittersRCV001995780RCV003339869
NM_000546.6(TP53):c.402T>A (p.Phe134Leu) SNV
Germline		 Chr17:7675210 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_1555526278

4 SubmittersRCV001091170RCV002375011RCV001862690RCV004031969
NM_000546.6(TP53):c.233C>T (p.Ala78Val) SNV
Germline		 Chr17:7676136 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_876658527

2 SubmittersRCV001912917RCV002449555
NM_000546.6(TP53):c.154C>T (p.Gln52Ter) SNV
Germline		 Chr17:7676215 Pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2151042795

3 SubmittersRCV001958596RCV002258341RCV002290817
NM_000546.6(TP53):c.1109A>C (p.Lys370Thr) SNV
Germline		 Chr17:7669682 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2150988865

2 SubmittersRCV002014214RCV002458991
NM_000546.6(TP53):c.622G>T (p.Asp208Tyr) SNV
Germline/somatic		 Chr17:7674909 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Lung adenocarcinoma		 Criteria Provided
Conflicting Classifications
 rs_1597368376

2 SubmittersRCV002042272RCV003128818
NM_000546.6(TP53):c.440T>A (p.Val147Asp) SNV
Germline		 Chr17:7675172 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_1453167097

3 SubmittersRCV002051460RCV003464164RCV004038887
NM_000546.6(TP53):c.485T>A (p.Ile162Asn) SNV
Germline		 Chr17:7675127 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587780069

2 SubmittersRCV001909548RCV003339812
NM_000546.6(TP53):c.726C>A (p.Cys242Ter) SNV
Germline		 Chr17:7674237 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_375874539

1 SubmittersRCV001983049
NM_000546.6(TP53):c.466C>G (p.Arg156Gly) SNV
Germline		 Chr17:7675146 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 rs_563378859

2 SubmittersRCV002337157RCV002021337
NM_000546.6(TP53):c.708C>G (p.Tyr236Ter) SNV
Germline		 Chr17:7674255 Pathogenic Familial cancer of breast
Hereditary cancer-predisposing syndrome		 Criteria Provided
Single Submitter
 rs_1597365202

2 SubmittersRCV002246782RCV003155980
NM_000546.6(TP53):c.383C>G (p.Pro128Arg) SNV
Germline		 Chr17:7675229 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002299889RCV003340480
NM_000546.6(TP53):c.406C>T (p.Gln136Ter) SNV
Germline		 Chr17:7675206 Pathogenic Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002569348RCV003475387RCV004067553
NM_000546.6(TP53):c.559+2T>A SNV
Germline		 Chr17:7675051 Pathogenic Condition: not provided
Li-Fraumeni syndrome		 Criteria Provided
Single Submitter
 rs_1597369404

2 SubmittersRCV000786833RCV002536885
NM_000546.6(TP53):c.298C>T (p.Gln100Ter) SNV
Germline/somatic		 Chr17:7676071 Pathogenic/Likely pathogenic Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Malignant tumor of urinary bladder
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1567555994

6 SubmittersRCV000785339RCV002256497RCV002535727RCV003332248RCV004027342
NM_000546.6(TP53):c.193A>T (p.Arg65Ter) SNV
Somatic		 Chr17:7676176 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1555526721

1 SubmittersRCV000785253
NM_000546.6(TP53):c.993+1G>T SNV
Germline/somatic		 Chr17:7673534 Pathogenic Neoplasm of ovary
Condition: not provided
Li-Fraumeni syndrome
Adrenal cortex carcinoma		 Criteria Provided
Single Submitter
 rs_11575997

4 SubmittersRCV000785504RCV000786815RCV001062298RCV004001541
NM_000546.6(TP53):c.783-1G>T SNV
Germline/somatic		 Chr17:7673838 Pathogenic Neoplasm of ovary
Condition: not provided
Li-Fraumeni syndrome		 Criteria Provided
Single Submitter
 rs_1555525367

3 SubmittersRCV000785242RCV000786819RCV001377112
NM_000546.6(TP53):c.782+1G>A SNV
Germline/somatic		 Chr17:7674180 Pathogenic Neoplasm of ovary
Li-Fraumeni syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 rs_1555525429

3 SubmittersRCV000785278RCV001063778RCV001528108
NM_000546.6(TP53):c.560-1G>A SNV
Germline/somatic		 Chr17:7674972 Pathogenic Neoplasm of ovary
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1202793339

6 SubmittersRCV000785507RCV000786832RCV001024314RCV002535728RCV003472320RCV004027349
NM_000546.6(TP53):c.375+1G>A SNV
Germline/somatic		 Chr17:7675993 Pathogenic/Likely pathogenic Neoplasm of ovary
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1567555445

7 SubmittersRCV000785320RCV000786839RCV001021044RCV001385498RCV002290031
NM_000546.6(TP53):c.993+2T>G SNV
Germline		 Chr17:7673533 Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1597359053

3 SubmittersRCV000786814RCV002386367RCV002249485
NM_000546.6(TP53):c.783-2A>T SNV
Germline		 Chr17:7673839 Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Single Submitter
 rs_1060501207

2 SubmittersRCV000786820RCV002406715
NM_000546.6(TP53):c.783-2A>C SNV
Germline		 Chr17:7673839 Pathogenic Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1060501207

3 SubmittersRCV000786821RCV001203239RCV002406716
NM_000546.6(TP53):c.673-2A>T SNV
Germline		 Chr17:7674292 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1555525585

3 SubmittersRCV000786826RCV002370059RCV002535740
NM_000546.6(TP53):c.672+2T>G SNV
Germline		 Chr17:7674857 Pathogenic Condition: not provided
Li-Fraumeni syndrome		 Criteria Provided
Single Submitter
 rs_1555525703

2 SubmittersRCV000786827RCV003509611
NM_000546.6(TP53):c.314G>T (p.Gly105Val) SNV
Somatic		 Chr17:7676055 Likely pathogenic Neoplasm of ovary
Lung adenocarcinoma		 Criteria Provided
Single Submitter
 rs_587781504

2 SubmittersRCV000785342RCV003128724
NM_000546.6(TP53):c.559G>C (p.Gly187Arg) SNV
Germline		 Chr17:7675053 Conflicting classifications of pathogenicity Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_776167460

4 SubmittersRCV000786835RCV001302589RCV002292581RCV002343642
NM_000546.6(TP53):c.375+1G>T SNV
Germline		 Chr17:7675993 Pathogenic/Likely pathogenic Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1567555445

6 SubmittersRCV000786840RCV000804919RCV001021045RCV002290035
NM_000546.6(TP53):c.1152G>A (p.Met384Ile) SNV
Germline		 Chr17:7669639 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597345344

3 SubmittersRCV000792615RCV002343647
NM_000546.6(TP53):c.1120G>T (p.Gly374Cys) SNV
Germline		 Chr17:7669671 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_587781858

3 SubmittersRCV000824393RCV002434031
NM_000546.6(TP53):c.1104C>A (p.His368Gln) SNV
Germline		 Chr17:7669687 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_1289241865

3 SubmittersRCV000813556RCV001009899RCV002290459
NM_000546.6(TP53):c.1045G>C (p.Glu349Gln) SNV
Germline		 Chr17:7670664 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567541975

2 SubmittersRCV000814404RCV004028816
NM_000546.6(TP53):c.1039G>A (p.Ala347Thr) SNV
Germline/somatic		 Chr17:7670670 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Condition: not provided
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 rs_1597349147

5 SubmittersRCV000820398RCV001017117RCV003332266RCV003141850RCV003389250
NM_000546.6(TP53):c.1036G>A (p.Glu346Lys) SNV
Germline		 Chr17:7670673 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567542019

2 SubmittersRCV000801312RCV003338808
NM_000546.6(TP53):c.986C>T (p.Thr329Ile) SNV
Germline		 Chr17:7673542 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
not specified
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_969930693

7 SubmittersRCV000808332RCV001183900RCV001824889RCV002290454
NM_000546.6(TP53):c.928A>G (p.Asn310Asp) SNV
Germline		 Chr17:7673600 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597359691

2 SubmittersRCV000806895RCV001019109
NM_000546.6(TP53):c.920C>T (p.Ala307Val) SNV
Germline		 Chr17:7673608 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1457582183

3 SubmittersRCV000824567RCV002372364
NM_000546.6(TP53):c.592G>T (p.Glu198Ter) SNV
Germline/somatic		 Chr17:7674939 Pathogenic Neoplasm of ovary
Li-Fraumeni syndrome		 Criteria Provided
Single Submitter
 rs_1567551854

2 SubmittersRCV000785326RCV002535726
NM_000546.6(TP53):c.1045G>T (p.Glu349Ter) SNV
Germline/somatic		 Chr17:7670664 Pathogenic Neoplasm of ovary
Condition: not provided
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1567541975

3 SubmittersRCV000785303RCV001269697RCV003117574
NM_000546.6(TP53):c.1036G>T (p.Glu346Ter) SNV
Germline/somatic		 Chr17:7670673 Pathogenic Neoplasm of ovary
Li-Fraumeni syndrome		 Criteria Provided
Single Submitter
 rs_1567542019

2 SubmittersRCV000785313RCV001235302
NM_000546.6(TP53):c.856G>T (p.Glu286Ter) SNV
Germline/somatic		 Chr17:7673764 Pathogenic Neoplasm of ovary
Li-Fraumeni syndrome		 Criteria Provided
Single Submitter
 rs_786201059

2 SubmittersRCV000785476RCV001380072
NM_000546.6(TP53):c.840A>C (p.Arg280Ser) SNV
Germline/somatic		 Chr17:7673780 Pathogenic/Likely pathogenic Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1567547687

3 SubmittersRCV000785449RCV002442608RCV004027346
NM_000546.6(TP53):c.817C>G (p.Arg273Gly) SNV
Germline/somatic		 Chr17:7673803 Pathogenic/Likely pathogenic Neoplasm of ovary
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
12 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_121913343

6 SubmittersRCV000785275RCV000814073RCV001027249RCV002290030RCV002487616
NM_000546.6(TP53):c.808T>C (p.Phe270Leu) SNV
Germline/somatic		 Chr17:7673812 Conflicting classifications of pathogenicity Neoplasm of ovary
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 rs_1057519988

6 SubmittersRCV000785520RCV001321223RCV002422673RCV003492171RCV004027353RCV004569494
NM_000546.6(TP53):c.711G>T (p.Met237Ile) SNV
Germline/somatic		 Chr17:7674252 Pathogenic/Likely pathogenic Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Malignant tumor of urinary bladder
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_587782664

5 SubmittersRCV000785508RCV002370058RCV003332249RCV003472321RCV003509608
NM_000546.6(TP53):c.695T>G (p.Ile232Ser) SNV
Germline/somatic		 Chr17:7674268 Pathogenic Neoplasm of ovary
Hereditary cancer-predisposing syndrome		 Criteria Provided
Single Submitter
 rs_587781589

2 SubmittersRCV000785478RCV002360902
NM_000546.6(TP53):c.661G>T (p.Glu221Ter) SNV
Germline/somatic		 Chr17:7674870 Pathogenic Neoplasm of ovary
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Adrenal cortex carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_786201592

4 SubmittersRCV000785468RCV000794857RCV004027347RCV004001540
NM_000546.6(TP53):c.660T>A (p.Tyr220Ter) SNV
Somatic		 Chr17:7674871 Pathogenic Neoplasm of ovary
Li-Fraumeni syndrome 1		 Criteria Provided
Single Submitter
 rs_1567551150

2 SubmittersRCV000785516RCV004027351
NM_000546.6(TP53):c.595G>T (p.Gly199Ter) SNV
Somatic		 Chr17:7674936 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567551821

1 SubmittersRCV000785258
NM_000546.6(TP53):c.725G>C (p.Cys242Ser) SNV
Germline		 Chr17:7674238 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_121912655

2 SubmittersRCV000801823RCV004028076
NM_000546.6(TP53):c.548C>G (p.Ser183Ter) SNV
Germline/somatic		 Chr17:7675064 Pathogenic Neoplasm of ovary
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1555525970

3 SubmittersRCV000785319RCV001382449RCV004027340
NM_000546.6(TP53):c.538G>T (p.Glu180Ter) SNV
Somatic		 Chr17:7675074 Pathogenic Neoplasm of ovary
Adrenal cortex carcinoma
Li-Fraumeni syndrome 1		 Criteria Provided
Single Submitter
 rs_879253911

3 SubmittersRCV000785283RCV004001539RCV004027338
NM_000546.6(TP53):c.511G>T (p.Glu171Ter) SNV
Germline/somatic		 Chr17:7675101 Pathogenic Neoplasm of ovary
Li-Fraumeni syndrome		 Criteria Provided
Single Submitter
 rs_587781845

2 SubmittersRCV000785509RCV000792928
NM_000546.6(TP53):c.497C>G (p.Ser166Ter) SNV
Somatic		 Chr17:7675115 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1555526101

1 SubmittersRCV000785317
NM_000546.6(TP53):c.467G>C (p.Arg156Pro) SNV
Germline/somatic		 Chr17:7675145 Conflicting classifications of pathogenicity Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 rs_371524413

3 SubmittersRCV000785506RCV001022886RCV002536879
NM_000546.6(TP53):c.437G>A (p.Trp146Ter) SNV
Germline/somatic		 Chr17:7675175 Pathogenic Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Adrenal cortex carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1206165503

7 SubmittersRCV000785547RCV001022390RCV001055632RCV002290032RCV004001542
NM_000546.6(TP53):c.430C>T (p.Gln144Ter) SNV
Germline/somatic		 Chr17:7675182 Pathogenic Neoplasm of ovary
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_757274881

4 SubmittersRCV000785285RCV001388107RCV002332573RCV003485642
NM_000546.6(TP53):c.415A>T (p.Lys139Ter) SNV
Somatic		 Chr17:7675197 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1212996409

1 SubmittersRCV000785252
NM_000546.6(TP53):c.396G>T (p.Lys132Asn) SNV
Germline/somatic		 Chr17:7675216 Pathogenic/Likely pathogenic Neoplasm of ovary
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_866775781

4 SubmittersRCV000785513RCV000795096RCV003238212RCV004027350
NM_000546.6(TP53):c.341T>A (p.Leu114Ter) SNV
Somatic		 Chr17:7676028 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_781724995

1 SubmittersRCV000785466
NM_000546.6(TP53):c.326T>G (p.Phe109Cys) SNV
Somatic		 Chr17:7676043 Likely pathogenic Neoplasm of ovary
Li-Fraumeni syndrome 1		 Criteria Provided
Single Submitter
 rs_1064796722

2 SubmittersRCV000785545RCV004027354
NM_000546.6(TP53):c.1048C>G (p.Leu350Val) SNV
Germline		 Chr17:7670661 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 rs_768046010

4 SubmittersRCV001059236RCV002402425RCV003462579
NM_000546.6(TP53):c.579T>A (p.His193Gln) SNV
Germline		 Chr17:7674952 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 rs_1597368777

1 SubmittersRCV001024540
NM_000546.6(TP53):c.542G>C (p.Arg181Pro) SNV
Germline		 Chr17:7675070 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_397514495

4 SubmittersRCV001024094RCV001206963RCV002290550
NM_000546.6(TP53):c.455C>G (p.Pro152Arg) SNV
Germline		 Chr17:7675157 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_587782705

3 SubmittersRCV001022693RCV002290546RCV001383776
NM_000546.6(TP53):c.389T>A (p.Leu130His) SNV
Germline		 Chr17:7675223 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 rs_1131691013

1 SubmittersRCV001021383
NM_000546.6(TP53):c.385G>T (p.Ala129Ser) SNV
Germline		 Chr17:7675227 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 rs_1438095083

2 SubmittersRCV001021309RCV001861015
NM_000546.6(TP53):c.379T>A (p.Ser127Thr) SNV
Germline		 Chr17:7675233 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_1597371694

4 SubmittersRCV001021179RCV001038263RCV002290541
NM_000546.6(TP53):c.309C>G (p.Tyr103Ter) SNV
Germline		 Chr17:7676060 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1597373901

4 SubmittersRCV001018609RCV001044605RCV002290537
NM_000546.6(TP53):c.303A>G (p.Lys101=) SNV
Germline		 Chr17:7676066 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_878854069

3 SubmittersRCV001018247RCV001860899RCV003478631
NM_000546.6(TP53):c.193A>G (p.Arg65Gly) SNV
Germline		 Chr17:7676176 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555526721

2 SubmittersRCV001013757RCV001873250
NM_000546.6(TP53):c.183T>A (p.Asp61Glu) SNV
Germline		 Chr17:7676186 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 rs_1597374797

4 SubmittersRCV001013317RCV001202193RCV002290529RCV004569919
NM_000546.6(TP53):c.179C>T (p.Pro60Leu) SNV
Germline		 Chr17:7676190 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1597374820

3 SubmittersRCV001013219RCV001057841RCV001776080
NM_000546.6(TP53):c.140C>G (p.Pro47Arg) SNV
Germline		 Chr17:7676229 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597375038

3 SubmittersRCV001011436RCV001242916
NM_000546.6(TP53):c.718A>C (p.Ser240Arg) SNV
Germline		 Chr17:7674245 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 rs_1567549584

1 SubmittersRCV001026129
NM_000546.6(TP53):c.961A>T (p.Lys321Ter) SNV
Germline		 Chr17:7673567 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2073154382

1 SubmittersRCV001044813
NM_000546.6(TP53):c.761T>A (p.Ile254Asn) SNV
Germline		 Chr17:7674202 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1330865474

2 SubmittersRCV001061736RCV004030433
NM_000546.6(TP53):c.758C>T (p.Thr253Ile) SNV
Germline		 Chr17:7674205 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_1555525465

3 SubmittersRCV001039079RCV003307815RCV004031088
NM_000546.6(TP53):c.695T>A (p.Ile232Asn) SNV
Germline		 Chr17:7674268 Pathogenic/Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Multiple Submitters
No Conflicts
 rs_587781589

2 SubmittersRCV001054089
NM_000546.6(TP53):c.674T>A (p.Val225Asp) SNV
Germline		 Chr17:7674289 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_2073269361

2 SubmittersRCV001055197RCV002374925
NM_000546.6(TP53):c.615T>G (p.Tyr205Ter) SNV
Germline		 Chr17:7674916 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_786202222

1 SubmittersRCV001040734
NM_000546.6(TP53):c.515T>A (p.Val172Asp) SNV
Germline		 Chr17:7675097 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
TP53-related disorder
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_1131691021

4 SubmittersRCV001037957RCV002337102RCV003396634RCV004031050
NM_000546.6(TP53):c.472C>G (p.Arg158Gly) SNV
Germline		 Chr17:7675140 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_587780068

1 SubmittersRCV001061572
NM_000546.6(TP53):c.184G>A (p.Glu62Lys) SNV
Germline		 Chr17:7676185 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 rs_1567556752

2 SubmittersRCV002411588RCV001065401
NM_000546.6(TP53):c.7G>A (p.Glu3Lys) SNV
Germline		 Chr17:7676588 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_2073524362

4 SubmittersRCV001064070RCV001525558RCV002290580
NM_000546.6(TP53):c.96+1G>A SNV
Germline/somatic		 Chr17:7676381 Likely pathogenic Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1131691003

3 SubmittersRCV001067173RCV001673009RCV004030642
NM_000546.6(TP53):c.97-1G>T SNV
Germline		 Chr17:7676273 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1597375294

3 SubmittersRCV000812930RCV003141828
NM_000546.6(TP53):c.461G>T (p.Gly154Val) SNV
Germline		 Chr17:7675151 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_762846821

2 SubmittersRCV000807194RCV003338813
NM_000546.6(TP53):c.380C>A (p.Ser127Tyr) SNV
Germline		 Chr17:7675232 Pathogenic Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 rs_730881999

4 SubmittersRCV000813247RCV001527086RCV002352420
NM_000546.6(TP53):c.346T>G (p.Ser116Ala) SNV
Germline		 Chr17:7676023 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Condition: not provided
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 rs_989692988

5 SubmittersRCV000804275RCV001020381RCV002290445RCV003478506RCV004569609
NM_000546.6(TP53):c.319T>G (p.Tyr107Asp) SNV
Germline		 Chr17:7676050 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_368771578

2 SubmittersRCV000794731RCV004027500
NM_000546.6(TP53):c.257C>T (p.Ala86Val) SNV
Germline		 Chr17:7676112 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_1597374264

4 SubmittersRCV000810093RCV001525077RCV002290457
NM_000546.6(TP53):c.133C>G (p.Leu45Val) SNV
Germline		 Chr17:7676236 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597375092

2 SubmittersRCV000816907RCV002381838
NM_000546.6(TP53):c.118A>G (p.Met40Val) SNV
Germline		 Chr17:7676251 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
not specified
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_1597375159

4 SubmittersRCV000797308RCV002265887RCV002290438RCV002290437
NM_000546.6(TP53):c.98C>T (p.Ser33Phe) SNV
Germline		 Chr17:7676271 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555526832

2 SubmittersRCV000804893RCV004028198
NM_000546.6(TP53):c.22C>A (p.Pro8Thr) SNV
Germline		 Chr17:7676573 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_1597376589

4 SubmittersRCV000822860RCV001015108RCV001257498
NM_000546.6(TP53):c.97-1G>A SNV
Germline/somatic		 Chr17:7676273 Likely pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 rs_1597375294

4 SubmittersRCV000791520RCV001019679RCV001725199
NM_000546.6(TP53):c.375+1G>C SNV
Germline		 Chr17:7675993 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1567555445

3 SubmittersRCV000822481RCV002256548RCV002290471
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) SNV
Germline/somatic		 Chr17:7674191 Pathogenic/Likely pathogenic Li-Fraumeni syndrome 1
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Neoplasm of ovary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000406 rs_121912652

9 SubmittersRCV000013141RCV000161071RCV000582699RCV000772122RCV000792895RCV000785291
NM_000546.6(TP53):c.559+1G>T SNV
Germline/somatic		 Chr17:7675052 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1131691042

5 SubmittersRCV000804747RCV001183083RCV001580378RCV002290446
NM_000546.6(TP53):c.97-11C>G SNV
Germline		 Chr17:7676283 Pathogenic Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_769697802

2 SubmittersRCV000791519RCV003472330
NM_000546.6(TP53):c.783-10T>C SNV
Germline		 Chr17:7673847 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 rs_377590379

4 SubmittersRCV000923204RCV001188668
NM_000546.6(TP53):c.428T>C (p.Val143Ala) SNV
Germline		 Chr17:7675184 Likely pathogenic Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Reviewed By Expert Panel
 rs_1555526241

3 SubmittersRCV000991143RCV004030120
NM_000546.6(TP53):c.1177G>C (p.Asp393His) SNV
Germline		 Chr17:7669614 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_1192921623

3 SubmittersRCV001010148RCV001862761RCV002290527
NM_000546.6(TP53):c.1157A>G (p.Lys386Arg) SNV
Germline		 Chr17:7669634 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 rs_1597345314

2 SubmittersRCV001010036RCV003621583
NM_000546.6(TP53):c.1130C>T (p.Thr377Ile) SNV
Germline		 Chr17:7669661 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_1597345549

3 SubmittersRCV001017399RCV001860863RCV002290535
NM_000546.6(TP53):c.946C>T (p.Pro316Ser) SNV
Germline		 Chr17:7673582 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_772773208

4 SubmittersRCV001019376RCV001041188RCV002290539
NM_000546.6(TP53):c.913A>T (p.Lys305Ter) SNV
Germline		 Chr17:7673707 Pathogenic Hereditary cancer-predisposing syndrome
Gastric cancer
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1597360340

3 SubmittersRCV001018912RCV003160179RCV003509646
NM_000546.6(TP53):c.865C>T (p.Leu289Phe) SNV
Germline		 Chr17:7673755 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 rs_1555525154

2 SubmittersRCV001018140RCV001297549
NM_000546.6(TP53):c.757A>G (p.Thr253Ala) SNV
Germline		 Chr17:7674206 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1597364185

2 SubmittersRCV001026581RCV002551972
NM_000546.6(TP53):c.214C>A (p.Pro72Thr) SNV
Germline		 Chr17:7676155 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA003071 rs_587782769

3 SubmittersRCV000223537RCV001221060
NM_000546.6(TP53):c.451C>T (p.Pro151Ser) SNV
Germline/somatic		 Chr17:7675161 Pathogenic/Likely pathogenic Breast adenocarcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Neoplasm of the large intestine
Neoplasm of brain
Multiple myeloma
Lung adenocarcinoma
Uterine carcinosarcoma
Squamous cell lung carcinoma
Carcinoma of esophagus
Malignant neoplasm of body of uterus
Hepatocellular carcinoma
Pancreatic adenocarcinoma
Li-Fraumeni syndrome
Malignant melanoma of skin
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Adenoid cystic carcinoma
Squamous cell carcinoma of the head and neck
Breast neoplasm
Transitional cell carcinoma of the bladder
Neoplasm of ovary
Rhabdomyosarcoma
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000200 rs_28934874

9 SubmittersRCV000013169RCV000079203RCV000219702RCV000429847RCV000435681RCV000426058RCV000427411RCV000431507RCV000438074RCV000421928RCV000422996RCV000443020RCV000440887RCV000633355RCV000420199RCV000420869RCV000424996RCV000432585RCV000433689RCV000440140RCV000443379RCV000785532RCV001257523RCV002288487
NM_000546.6(TP53):c.604C>G (p.Arg202Gly) SNV
Germline		 Chr17:7674927 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA10580933 rs_587780072

3 SubmittersRCV000218191RCV003509516
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) SNV
Germline/somatic		 Chr17:7675161 Pathogenic/Likely pathogenic Breast adenocarcinoma
Hereditary cancer-predisposing syndrome
Ovarian serous cystadenocarcinoma
Carcinoma of esophagus
Adenoid cystic carcinoma
Neoplasm of brain
Breast neoplasm
Lung adenocarcinoma
Uterine carcinosarcoma
Malignant neoplasm of body of uterus
Malignant melanoma of skin
Gastric adenocarcinoma
Condition: not provided
Neoplasm of the large intestine
Squamous cell carcinoma of the head and neck
Hepatocellular carcinoma
Li-Fraumeni syndrome
Rhabdomyosarcoma
Squamous cell lung carcinoma
Multiple myeloma
Transitional cell carcinoma of the bladder
Pancreatic adenocarcinoma
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000198 rs_28934874

9 SubmittersRCV000013168RCV000130617RCV000423161RCV000424222RCV000428384RCV000428836RCV000437544RCV000433405RCV000435159RCV000443817RCV000417493RCV000418145RCV000520731RCV000425139RCV000429500RCV000442802RCV000691152RCV001257524RCV000422094RCV000434485RCV000439740RCV000440812RCV002288486RCV004566739
NM_000546.6(TP53):c.587G>C (p.Arg196Pro) SNV
Germline/somatic		 Chr17:7674944 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Neoplasm of the large intestine
Squamous cell carcinoma of the head and neck
Papillary renal cell carcinoma type 1
Carcinoma of esophagus
Squamous cell lung carcinoma
Neoplasm of brain
Small cell lung carcinoma
Breast neoplasm
Ovarian serous cystadenocarcinoma
Lung adenocarcinoma
Malignant melanoma of skin
Multiple myeloma
Squamous cell carcinoma of the skin
Pancreatic adenocarcinoma
Gastric adenocarcinoma
Glioblastoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10580934 rs_483352697

6 SubmittersRCV000216410RCV000418400RCV000423798RCV000427483RCV000431695RCV000443813RCV000443927RCV000419494RCV000425092RCV000429772RCV000433800RCV000435372RCV000436292RCV000426017RCV000434064RCV000440531RCV000440866RCV003114386RCV004020663
NM_000546.6(TP53):c.577C>T (p.His193Tyr) SNV
Germline/somatic		 Chr17:7674954 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
B-cell chronic lymphocytic leukemia
Neoplasm of brain
Uterine carcinosarcoma
Transitional cell carcinoma of the bladder
Ovarian serous cystadenocarcinoma
Papillary renal cell carcinoma, sporadic
Hepatocellular carcinoma
Brainstem glioma
Malignant neoplasm of body of uterus
Condition: not provided
Gastric adenocarcinoma
Pancreatic adenocarcinoma
Carcinoma of esophagus
Squamous cell carcinoma of the head and neck
Prostate adenocarcinoma
Lung adenocarcinoma
Neoplasm of the large intestine
Acute myeloid leukemia
Breast neoplasm
Squamous cell lung carcinoma
Small cell lung carcinoma
Li-Fraumeni syndrome
Malignant tumor of urinary bladder
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10580936 rs_876658468

7 SubmittersRCV000221478RCV000424900RCV000430089RCV000436284RCV000444740RCV000445008RCV000419469RCV000419839RCV000423524RCV000426264RCV000412758RCV000418749RCV000421204RCV000440111RCV000425998RCV000431464RCV000432551RCV000429902RCV000437380RCV000441207RCV000434647RCV000441502RCV000809571RCV003332145RCV002288851
NM_000546.6(TP53):c.569C>G (p.Pro190Arg) SNV
Germline		 Chr17:7674962 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA10580937 rs_876660825

3 SubmittersRCV000222080RCV001045782RCV002288896
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) SNV
Germline/somatic		 Chr17:7673781 Pathogenic/Likely pathogenic Nasopharyngeal carcinoma
Hepatocellular carcinoma
Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the skin
Gastric adenocarcinoma
Malignant melanoma of skin
Neoplasm of brain
Ovarian serous cystadenocarcinoma
Transitional cell carcinoma of the bladder
Squamous cell lung carcinoma
Li-Fraumeni syndrome
Lung adenocarcinoma
Carcinoma of esophagus
Breast neoplasm
Acute myeloid leukemia
Nasopharyngeal neoplasm
Uterine carcinosarcoma
Small cell lung carcinoma
Neoplasm of uterine cervix
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Malignant tumor of urinary bladder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000445 rs_121912660

7 SubmittersRCV000013167RCV000420086RCV000424688RCV000429718RCV000432461RCV000434981RCV000440816RCV000428404RCV000431210RCV000432716RCV000198779RCV000441513RCV000445307RCV000422958RCV000423074RCV000437764RCV000441912RCV000418209RCV000422446RCV002433452RCV004018618RCV003332081
NM_000546.6(TP53):c.401T>G (p.Phe134Cys) SNV
Germline		 Chr17:7675211 Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA002638 rs_780442292

2 SubmittersRCV000214547RCV000656580
NM_000546.6(TP53):c.329G>C (p.Arg110Pro) SNV
Germline		 Chr17:7676040 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10580948 rs_11540654

5 SubmittersRCV000222678RCV000231991RCV002288889RCV003462528
NM_000546.6(TP53):c.273G>A (p.Trp91Ter) SNV
Germline/somatic		 Chr17:7676096 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Neoplasm of ovary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10580953 rs_876660548

9 SubmittersRCV000220815RCV000233967RCV000657656RCV001028065RCV000785284
NM_000546.6(TP53):c.233C>G (p.Ala78Gly) SNV
Germline		 Chr17:7676136 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA10580955 rs_876658527

5 SubmittersRCV000219512RCV000552207RCV002288854
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) SNV
Germline/somatic		 Chr17:7674893 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Squamous cell carcinoma of the skin
Ovarian serous cystadenocarcinoma
Breast neoplasm
Squamous cell lung carcinoma
Uterine carcinosarcoma
Squamous cell carcinoma of the head and neck
Hepatocellular carcinoma
Prostate adenocarcinoma
Lung adenocarcinoma
Carcinoma of esophagus
Neoplasm of brain
Malignant neoplasm of body of uterus
Adenoid cystic carcinoma
Papillary renal cell carcinoma type 1
Transitional cell carcinoma of the bladder
Gastric adenocarcinoma
Glioblastoma
Malignant melanoma of skin
Adrenal cortex carcinoma
Pancreatic adenocarcinoma
Nasopharyngeal neoplasm
Neoplasm of the large intestine
not specified
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10580932 rs_587778720

5 SubmittersRCV000220461RCV000420213RCV000424407RCV000426111RCV000429975RCV000441598RCV000419521RCV000423147RCV000418520RCV000423776RCV000441029RCV000425014RCV000443926RCV000430230RCV000430895RCV000434458RCV000435742RCV000436779RCV000431639RCV000433848RCV000443850RCV000440212RCV000440917RCV000506128RCV002288865RCV002518297
NM_000546.6(TP53):c.974G>T (p.Gly325Val) SNV
Germline		 Chr17:7673554 Conflicting classifications of pathogenicity Non-Hodgkin lymphoma
Familial colorectal cancer
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA000516 rs_121912659

7 SubmittersRCV000013165RCV000013166RCV000131411RCV000232570RCV001508433
NM_000546.6(TP53):c.818G>A (p.Arg273His) SNV
Germline/somatic		 Chr17:7673802 Pathogenic Li-Fraumeni syndrome 1
Thyroid gland undifferentiated (anaplastic) carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple myeloma
Ovarian serous cystadenocarcinoma
Transitional cell carcinoma of the bladder
Malignant melanoma of skin
Carcinoma of esophagus
Small cell lung carcinoma
Squamous cell lung carcinoma
Squamous cell carcinoma of the head and neck
Prostate adenocarcinoma
Neoplasm of brain
Pancreatic adenocarcinoma
B-cell chronic lymphocytic leukemia
Acute myeloid leukemia
Adrenal cortex carcinoma
Breast neoplasm
Li-Fraumeni syndrome
Lung adenocarcinoma
Brainstem glioma
Glioblastoma
Neoplasm
Gastric adenocarcinoma
Uterine carcinosarcoma
Malignant neoplasm of body of uterus
Medulloblastoma
Hepatocellular carcinoma
Neoplasm of the large intestine
Neoplasm of ovary
Malignant tumor of breast
Familial cancer of breast
Multiple myeloma
Colorectal cancer
Rhabdomyosarcoma
12 conditions
Gastric cancer
Breast and/or ovarian cancer
Adrenocortical carcinoma, hereditary		 Reviewed By Expert Panel
 CA000434 rs_28934576

35 SubmittersRCV000013163RCV000013164RCV000115738RCV000254693RCV000424833RCV000428779RCV000429822RCV000433409RCV000435547RCV000437210RCV000418930RCV000422097RCV000422733RCV000424218RCV000439513RCV000424109RCV000440815RCV000424627RCV000443907RCV000463420RCV000431361RCV000434044RCV000436207RCV000441169RCV000419960RCV000423826RCV000430161RCV000440474RCV000444851RCV000444900RCV000785345RCV001358389RCV001527484RCV001527470RCV001257517RCV002476955RCV003162246RCV003492292RCV003466853
NM_000546.6(TP53):c.158G>A (p.Trp53Ter) SNV
Germline/somatic		 Chr17:7676211 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Neoplasm of ovary
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10580959 rs_876658483

6 SubmittersRCV000222677RCV000693351RCV000785314RCV003475007RCV002288852
NM_000546.6(TP53):c.146A>G (p.Asp49Gly) SNV
Germline		 Chr17:7676223 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA003170 rs_759728549

3 SubmittersRCV000219898RCV000702036
NM_000546.6(TP53):c.14A>G (p.Gln5Arg) SNV
Germline		 Chr17:7676581 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA003990 rs_781595324

6 SubmittersRCV000220312RCV000550564RCV001575870RCV002288887
NM_000546.6(TP53):c.1100+13A>G SNV
Germline		 Chr17:7670596 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA000037 rs_77881630

2 SubmittersRCV000131467RCV002514746
NM_000546.6(TP53):c.542G>A (p.Arg181His) SNV
Germline/somatic		 Chr17:7675070 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Squamous cell carcinoma of the head and neck
Carcinoma of pancreas
Familial cancer of breast
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 CA000259 rs_397514495

20 SubmittersRCV000131382RCV000168247RCV000255239RCV000576528RCV000989718RCV001391195RCV001527471RCV003462011
NM_000546.6(TP53):c.746G>A (p.Arg249Lys) SNV
Germline/somatic		 Chr17:7674217 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Medulloblastoma
Hepatocellular carcinoma
Pancreatic adenocarcinoma
Small cell lung carcinoma
Squamous cell carcinoma of the head and neck
Prostate adenocarcinoma
Carcinoma of esophagus
Malignant neoplasm of body of uterus
Lung adenocarcinoma
Squamous cell carcinoma of the skin
Uterine carcinosarcoma
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Glioblastoma
Squamous cell lung carcinoma
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA000391 rs_587782329

6 SubmittersRCV000131246RCV000420497RCV000437502RCV000438874RCV000439985RCV000440358RCV000445113RCV000427275RCV000429077RCV000430131RCV000421887RCV000419499RCV000419850RCV000421647RCV000429319RCV000431473RCV000724753RCV001857457RCV002288647
NM_000546.6(TP53):c.466C>T (p.Arg156Cys) SNV
Germline		 Chr17:7675146 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
11 conditions
not specified
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 CA000214 rs_563378859

12 SubmittersRCV000115721RCV000213051RCV000232885RCV000409094RCV000764146RCV002465516RCV003467058
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp) SNV
Germline/somatic		 Chr17:7674257 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Lung adenocarcinoma
Pancreatic adenocarcinoma
Squamous cell carcinoma of the skin
Breast neoplasm
Neoplasm of brain
Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the head and neck
Prostate adenocarcinoma
Squamous cell lung carcinoma
Gastric adenocarcinoma
Neoplasm of the large intestine
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA000344 rs_587782289

4 SubmittersRCV000131168RCV000421075RCV000418648RCV000428270RCV000419715RCV000429365RCV000435853RCV000436923RCV000438979RCV000440030RCV000421570RCV000430428RCV001214095RCV004019744
NM_000546.6(TP53):c.1100+8A>G SNV
Germline		 Chr17:7670601 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583673 rs_878854062

4 SubmittersRCV000229362RCV000437181RCV000580314
NM_000546.6(TP53):c.815T>G (p.Val272Gly) SNV
Germline/somatic		 Chr17:7673805 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Breast neoplasm
Malignant neoplasm of body of uterus
Ovarian serous cystadenocarcinoma
Gastric adenocarcinoma
Pancreatic adenocarcinoma
Squamous cell carcinoma of the skin
Squamous cell carcinoma of the head and neck
Multiple myeloma
Neoplasm of the large intestine
Transitional cell carcinoma of the bladder
Lung adenocarcinoma
Papillary renal cell carcinoma type 1
Medulloblastoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA10580918 rs_876660333

4 SubmittersRCV000220536RCV000422297RCV000421184RCV000419845RCV000420090RCV000431226RCV000441216RCV000441467RCV000427960RCV000430105RCV000421439RCV000432569RCV000439065RCV000444129RCV002515714RCV004020685
NM_000546.6(TP53):c.930C>A (p.Asn310Lys) SNV
Germline		 Chr17:7673598 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA10580910 rs_876660829

4 SubmittersRCV000221944RCV000797410RCV002288897
NM_000546.6(TP53):c.919+3A>G SNV
Germline		 Chr17:7673698 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA10580911 rs_876659784

3 SubmittersRCV000216225RCV001853589
NM_000546.6(TP53):c.412G>C (p.Ala138Pro) SNV
Germline		 Chr17:7675200 Pathogenic/Likely pathogenic Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000166 rs_28934875

3 SubmittersRCV000013175RCV002326677RCV000461233
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) SNV
Germline/somatic		 Chr17:7670678 Likely pathogenic Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Adrenocortical carcinoma, hereditary
Adrenal cortex carcinoma		 Reviewed By Expert Panel
 CA000021 rs_121912662

6 SubmittersRCV000013174RCV000991141RCV002390102RCV003473083RCV003996091
NM_000546.6(TP53):c.19G>C (p.Asp7His) SNV
Germline		 Chr17:7676576 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA000065 rs_587782646

5 SubmittersRCV000132048RCV001364215RCV001559782RCV002288651
NM_000546.6(TP53):c.908G>A (p.Ser303Asn) SNV
Germline		 Chr17:7673712 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA10580912 rs_876658714

3 SubmittersRCV000218916RCV000700080RCV002288859
NM_000546.6(TP53):c.427G>A (p.Val143Met) SNV
Germline		 Chr17:7675185 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Breast neoplasm
Malignant tumor of breast
Condition: not provided
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 CA000176 rs_587782620

8 SubmittersRCV000132003RCV000227179RCV000409072RCV000413546RCV001354661RCV001560552RCV003474783
NM_000546.6(TP53):c.877G>A (p.Gly293Arg) SNV
Germline		 Chr17:7673743 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA001422 rs_587780076

5 SubmittersRCV000219408RCV001052713RCV002288849
NM_000546.6(TP53):c.833C>T (p.Pro278Leu) SNV
Germline/somatic		 Chr17:7673787 Pathogenic Hereditary cancer-predisposing syndrome
Neoplasm of brain
Squamous cell carcinoma of the skin
Squamous cell lung carcinoma
Pancreatic adenocarcinoma
Lung adenocarcinoma
Squamous cell carcinoma of the head and neck
Multiple myeloma
Malignant neoplasm of body of uterus
Malignant melanoma of skin
Neoplasm of the large intestine
Breast neoplasm
Carcinoma of esophagus
Ovarian serous cystadenocarcinoma
Neoplasm of ovary
Gallbladder cancer
Li-Fraumeni syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10580915 rs_876659802

6 SubmittersRCV000214784RCV000421915RCV000424153RCV000429345RCV000430442RCV000433311RCV000434963RCV000443824RCV000419043RCV000440687RCV000417969RCV000423023RCV000428205RCV000439555RCV000785311RCV001374441RCV001042706RCV001541668
NM_000546.6(TP53):c.827C>A (p.Ala276Asp) SNV
Germline		 Chr17:7673793 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA10580916 rs_786202082

5 SubmittersRCV000223364RCV000236401RCV002288879RCV002515676
NM_000546.6(TP53):c.818G>C (p.Arg273Pro) SNV
Germline/somatic		 Chr17:7673802 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Multiple myeloma
Adrenal cortex carcinoma
Transitional cell carcinoma of the bladder
Pancreatic adenocarcinoma
Malignant melanoma of skin
Neoplasm of brain
Malignant neoplasm of body of uterus
Squamous cell carcinoma of the head and neck
Prostate adenocarcinoma
Breast neoplasm
Medulloblastoma
Uterine carcinosarcoma
Ovarian serous cystadenocarcinoma
Gastric adenocarcinoma
Carcinoma of esophagus
Brainstem glioma
Acute myeloid leukemia
B-cell chronic lymphocytic leukemia
Squamous cell lung carcinoma
Hepatocellular carcinoma
Neoplasm of the large intestine
Small cell lung carcinoma
Lung adenocarcinoma
Glioblastoma
Li-Fraumeni syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10580917 rs_28934576

6 SubmittersRCV000222860RCV000418732RCV000419080RCV000422030RCV000419328RCV000419898RCV000420123RCV000426561RCV000421059RCV000426712RCV000427328RCV000427811RCV000429434RCV000429654RCV000431744RCV000431835RCV000436356RCV000439039RCV000439246RCV000440313RCV000434099RCV000437116RCV000437377RCV000444938RCV000442511RCV000553607RCV000785460RCV002288863
NM_000546.6(TP53):c.845G>A (p.Arg282Gln) SNV
Germline/somatic		 Chr17:7673775 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
not specified
Glioblastoma
Papillary renal cell carcinoma type 1
Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the skin
Prostate adenocarcinoma
Neoplasm of the large intestine
Carcinoma of esophagus
Pancreatic adenocarcinoma
Malignant melanoma of skin
Ovarian serous cystadenocarcinoma
Transitional cell carcinoma of the bladder
Malignant neoplasm of body of uterus
Hereditary cancer-predisposing syndrome
Gastric adenocarcinoma
Squamous cell lung carcinoma
Breast neoplasm
Non-Hodgkin lymphoma
Condition: not provided
Neoplasm of brain
Lung adenocarcinoma
Hepatocellular carcinoma
Malignant tumor of breast
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA10575441 rs_730882008

14 SubmittersRCV000226273RCV000235474RCV000421276RCV000436164RCV000444806RCV000422340RCV000423658RCV000425549RCV000426667RCV000428909RCV000442318RCV000431918RCV000442471RCV000434324RCV000492420RCV000418376RCV000427734RCV000429554RCV000433180RCV000767028RCV000437335RCV000438489RCV000439593RCV001357626RCV000709768RCV003463657RCV003483584
NM_000546.6(TP53):c.797G>T (p.Gly266Val) SNV
Germline/somatic		 Chr17:7673823 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Lung adenocarcinoma
Neoplasm of brain
Pancreatic adenocarcinoma
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Carcinoma of esophagus
Glioblastoma
Squamous cell carcinoma of the skin
Breast neoplasm
Small cell lung carcinoma
Hepatocellular carcinoma
Transitional cell carcinoma of the bladder
Uterine carcinosarcoma
Malignant melanoma of skin
Squamous cell lung carcinoma
Neoplasm of the large intestine
B-cell chronic lymphocytic leukemia
Malignant neoplasm of body of uterus
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA10580919 rs_193920774

4 SubmittersRCV000220597RCV000422392RCV000424659RCV000433685RCV000435298RCV000439374RCV000440058RCV000422798RCV000427379RCV000428065RCV000429134RCV000434748RCV000417840RCV000437591RCV000444359RCV000434911RCV000423426RCV000444283RCV000445304RCV002288888RCV001854689
NM_000546.6(TP53):c.524G>A (p.Arg175His) SNV
Germline/somatic		 Chr17:7675088 Pathogenic Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of esophagus
Neoplasm
Breast neoplasm
Li-Fraumeni syndrome
Neoplasm of ovary
Colorectal cancer
Lip and oral cavity carcinoma
Squamous cell carcinoma of the head and neck
Familial cancer of breast
12 conditions
Adrenocortical carcinoma, hereditary
Gastric cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000251 rs_28934578

28 SubmittersRCV000013173RCV000131301RCV000213054RCV000239398RCV000421746RCV000428918RCV000204931RCV000785352RCV001270269RCV001255668RCV001270268RCV001527463RCV002476956RCV003466854RCV003162247
NM_000546.6(TP53):c.782+2T>G SNV
Germline/somatic		 Chr17:7674179 Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA10580920 rs_876659076

2 SubmittersRCV000217728RCV001528107
NM_000546.6(TP53):c.541C>T (p.Arg181Cys) SNV
Germline		 Chr17:7675071 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Adrenocortical carcinoma, hereditary
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA000257 rs_587782596

6 SubmittersRCV000131943RCV000168292RCV000236276RCV003474780RCV004544301
NM_000546.6(TP53):c.1079G>T (p.Gly360Val) SNV
Germline		 Chr17:7670630 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA000030 rs_35993958

9 SubmittersRCV000131746RCV000195550RCV001284721RCV002267882
NM_000546.6(TP53):c.764T>A (p.Ile255Asn) SNV
Germline/somatic		 Chr17:7674199 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Lung adenocarcinoma
Neoplasm of brain
Glioblastoma
Breast neoplasm
B-cell chronic lymphocytic leukemia
Pancreatic adenocarcinoma
Carcinoma of esophagus
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA10580923 rs_876659675

5 SubmittersRCV000221023RCV000440110RCV000441998RCV000425285RCV000432689RCV000422868RCV000432486RCV000433813RCV000633370RCV002288875
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) SNV
Germline/somatic		 Chr17:7674220 Pathogenic Hereditary cancer-predisposing syndrome
Neoplasm of brain
Squamous cell lung carcinoma
Acute myeloid leukemia
Multiple myeloma
Squamous cell carcinoma of the head and neck
Lung adenocarcinoma
Small cell lung carcinoma
Uterine carcinosarcoma
Transitional cell carcinoma of the bladder
Carcinoma of esophagus
Neoplasm of the large intestine
Brainstem glioma
Medulloblastoma
Pancreatic adenocarcinoma
Malignant melanoma of skin
Myelodysplastic syndrome
Malignant neoplasm of body of uterus
B-cell chronic lymphocytic leukemia
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Gastric adenocarcinoma
Glioblastoma
Squamous cell carcinoma of the skin
Breast neoplasm
Prostate adenocarcinoma
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1		 Reviewed By Expert Panel
 CA10580924 rs_11540652

7 SubmittersRCV000219834RCV000422303RCV000422821RCV000429221RCV000439901RCV000427307RCV000428586RCV000434177RCV000417894RCV000418531RCV000439516RCV000440686RCV000423159RCV000423468RCV000424394RCV000443712RCV000424119RCV000445266RCV000430044RCV000433237RCV000435726RCV000433865RCV000443630RCV000435101RCV000437940RCV000445145RCV000991149RCV003475005RCV004020650
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys) SNV
Germline/somatic		 Chr17:7670700 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1
Condition: not provided
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000010 rs_587782529

12 SubmittersRCV000131726RCV000475086RCV000785479RCV001310211RCV001781474RCV003467184
NM_000546.6(TP53):c.715A>G (p.Asn239Asp) SNV
Germline/somatic		 Chr17:7674248 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Gastric adenocarcinoma
Lung adenocarcinoma
Neoplasm of the large intestine
Prostate adenocarcinoma
Malignant neoplasm of body of uterus
Hepatocellular carcinoma
Breast neoplasm
Uterine carcinosarcoma
Squamous cell carcinoma of the head and neck
Papillary renal cell carcinoma type 1
Ovarian serous cystadenocarcinoma
Li-Fraumeni syndrome
Malignant tumor of breast
Condition: not provided
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA10580926 rs_876660807

8 SubmittersRCV000223044RCV000428477RCV000421256RCV000434302RCV000423612RCV000424282RCV000441535RCV000439114RCV000426851RCV000432300RCV000433419RCV000442741RCV000560536RCV001355898RCV003137828RCV003475037RCV004020697
NM_000546.6(TP53):c.770T>A (p.Leu257Gln) SNV
Germline/somatic		 Chr17:7674193 Conflicting classifications of pathogenicity Li-fraumeni-like syndrome
Neoplasm of ovary
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA000402 rs_28934577

4 SubmittersRCV000013171RCV000785553RCV000469142RCV002399320
NM_000546.6(TP53):c.105G>T (p.Leu35Phe) SNV
Somatic		 Chr17:7676264 Pathogenic Carcinoma of pancreas No Assertion Criteria Provided
 CA000025 rs_121912661

1 SubmittersRCV000013170
NM_000546.6(TP53):c.580C>T (p.Leu194Phe) SNV
Germline/somatic		 Chr17:7674951 Pathogenic/Likely pathogenic Condition: not provided
Glioblastoma
Breast neoplasm
Ovarian serous cystadenocarcinoma
Neoplasm of uterine cervix
Pancreatic adenocarcinoma
Lung adenocarcinoma
Neoplasm of brain
Neoplasm of the large intestine
Hepatocellular carcinoma
Transitional cell carcinoma of the bladder
Squamous cell carcinoma of the head and neck
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Adrenal cortex carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000278 rs_587780071

7 SubmittersRCV000115728RCV000419908RCV000417813RCV000418414RCV000421548RCV000426684RCV000428029RCV000429595RCV000439186RCV000434383RCV000436065RCV000439843RCV001377420RCV002288599RCV002288598RCV003997297
NM_000546.6(TP53):c.559+8G>A SNV
Germline		 Chr17:7675045 Conflicting classifications of pathogenicity not specified
Li-Fraumeni syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002364 rs_775915220

5 SubmittersRCV000253181RCV001078796RCV000726139
NM_000546.6(TP53):c.734G>C (p.Gly245Ala) SNV
Germline/somatic		 Chr17:7674229 Conflicting classifications of pathogenicity Condition: not provided
Breast neoplasm
Brainstem glioma
Ovarian serous cystadenocarcinoma
Carcinoma of esophagus
Lung adenocarcinoma
Squamous cell lung carcinoma
Prostate adenocarcinoma
Neoplasm of the large intestine
Neoplasm of brain
Pancreatic adenocarcinoma
Transitional cell carcinoma of the bladder
Uterine carcinosarcoma
Gastric adenocarcinoma
Hepatocellular carcinoma
Glioblastoma
Squamous cell carcinoma of the head and neck
Hereditary cancer-predisposing syndrome
Adrenal cortex carcinoma
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 CA10588670 rs_121912656

6 SubmittersRCV000255018RCV000425368RCV000428537RCV000431752RCV000432804RCV000433958RCV000436773RCV000438479RCV000443845RCV000421477RCV000422531RCV000427619RCV000443789RCV000437884RCV000420237RCV000426521RCV000442824RCV002379095RCV003995742RCV003509522RCV004567808
NM_000546.6(TP53):c.1072G>A (p.Glu358Lys) SNV
Germline		 Chr17:7670637 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA000027 rs_587782237

3 SubmittersRCV000130938RCV002288643RCV001229943
NM_000546.6(TP53):c.643A>G (p.Ser215Gly) SNV
Germline/somatic		 Chr17:7674888 Conflicting classifications of pathogenicity Condition: not provided
Small cell lung carcinoma
Gastric adenocarcinoma
Carcinoma of esophagus
Pancreatic adenocarcinoma
Acute myeloid leukemia
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Breast neoplasm
Lung adenocarcinoma
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
not specified
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA10588671 rs_886039484

9 SubmittersRCV000255449RCV000418361RCV000427564RCV000437324RCV000439730RCV000445278RCV000429054RCV000430142RCV000436667RCV000419408RCV000700891RCV000772138RCV000785239RCV002282093RCV004021028
NM_000546.6(TP53):c.434T>C (p.Leu145Pro) SNV
Germline/somatic		 Chr17:7675178 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA000188 rs_587782197

4 SubmittersRCV000130857RCV000785265RCV001232651RCV004019742
NM_000546.6(TP53):c.376T>G (p.Tyr126Asp) SNV
Germline/somatic		 Chr17:7675236 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA10588672 rs_886039483

5 SubmittersRCV000255685RCV000568595RCV000705124RCV000785482RCV004021027
NM_000546.6(TP53):c.391A>T (p.Asn131Tyr) SNV
Germline		 Chr17:7675221 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA000154 rs_587782160

1 SubmittersRCV000130751
NM_000546.6(TP53):c.256G>A (p.Ala86Thr) SNV
Germline		 Chr17:7676113 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA000088 rs_587782148

6 SubmittersRCV000130712RCV000478688RCV000633343RCV002247510
NM_000546.6(TP53):c.473G>A (p.Arg158His) SNV
Germline		 Chr17:7675139 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Rhabdomyosarcoma
Adrenocortical carcinoma, hereditary
Breast and/or ovarian cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000227 rs_587782144

23 SubmittersRCV000130708RCV000227859RCV000255654RCV000496787RCV001257522RCV003461996RCV003492603
NM_000546.6(TP53):c.398T>C (p.Met133Thr) SNV
Germline		 Chr17:7675214 Pathogenic Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000158 rs_28934873

4 SubmittersRCV000013151RCV000492130RCV001383051
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) SNV
Germline/somatic		 Chr17:7674220 Pathogenic Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Sarcoma
Breast neoplasm
Small cell lung carcinoma
Neoplasm of the large intestine
Multiple myeloma
Medulloblastoma
Uterine carcinosarcoma
Myelodysplastic syndrome
Malignant melanoma of skin
Ovarian serous cystadenocarcinoma
Neoplasm of brain
Transitional cell carcinoma of the bladder
B-cell chronic lymphocytic leukemia
Acute myeloid leukemia
Carcinoma of esophagus
Hepatocellular carcinoma
Pancreatic adenocarcinoma
Neoplasm
Glioblastoma
Brainstem glioma
Malignant neoplasm of body of uterus
Squamous cell carcinoma of the head and neck
Condition: not provided
Prostate adenocarcinoma
Gastric adenocarcinoma
Squamous cell carcinoma of the skin
Neoplasm of ovary
Squamous cell lung carcinoma
Lung adenocarcinoma
11 conditions
Lymphoma
Familial cancer of breast
Ductal carcinoma in situ
Breast carcinoma
Colorectal cancer
Lip and oral cavity carcinoma
Rhabdomyosarcoma
Adrenal cortex carcinoma
Gastric cancer
Malignant tumor of urinary bladder
Adrenocortical carcinoma, hereditary		 Reviewed By Expert Panel
 CA000387 rs_11540652

39 SubmittersRCV000013150RCV000115736RCV000197114RCV000148913RCV000419135RCV000420303RCV000421893RCV000424869RCV000427709RCV000432587RCV000437935RCV000420727RCV000421194RCV000426359RCV000432778RCV000435533RCV000417916RCV000437291RCV000438410RCV000439963RCV000426606RCV000445244RCV000433424RCV000437518RCV000444656RCV000235221RCV000426233RCV000428591RCV000430513RCV000785344RCV000441226RCV000445235RCV000763417RCV000790860RCV001270275RCV001527465RCV001554245RCV001789749RCV001255671RCV001257519RCV003996090RCV003162244RCV003332079RCV003466852
NM_000546.6(TP53):c.770T>G (p.Leu257Arg) SNV
Germline		 Chr17:7674193 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA000404 rs_28934577

2 SubmittersRCV000130981RCV001233712
NM_000546.6(TP53):c.604C>T (p.Arg202Cys) SNV
Germline		 Chr17:7674927 Conflicting classifications of pathogenicity Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 CA000288 rs_587780072

10 SubmittersRCV000115729RCV000473040RCV000563913RCV001257499RCV004567015
NM_000546.6(TP53):c.673-37C>T SNV
Germline		 Chr17:7674327 Conflicting classifications of pathogenicity Li-Fraumeni syndrome 1
not specified
Condition: not provided
TP53-related disorder
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA001891 rs_374907737

6 SubmittersRCV000409763RCV001796970RCV001810875RCV003892009RCV002288981
NM_000546.6(TP53):c.74+9A>C SNV
Germline		 Chr17:7676512 Conflicting classifications of pathogenicity Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA16042179 rs_1057517593

5 SubmittersRCV000410984RCV000469570RCV003150194
NM_000546.6(TP53):c.731G>A (p.Gly244Asp) SNV
Germline/somatic		 Chr17:7674232 Pathogenic/Likely pathogenic Condition: not provided
Glioblastoma
Small cell lung carcinoma
Neoplasm of the large intestine
Ovarian serous cystadenocarcinoma
Squamous cell lung carcinoma
Lung adenocarcinoma
Carcinoma of esophagus
Uterine carcinosarcoma
Hepatocellular carcinoma
Squamous cell carcinoma of the head and neck
Neoplasm of brain
Li-Fraumeni syndrome
Malignant neoplasm of body of uterus
Hereditary cancer-predisposing syndrome
Gastric adenocarcinoma
Neoplasm of ovary
Li-Fraumeni syndrome 1
Gastric cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16043048 rs_985033810

10 SubmittersRCV000413969RCV000421269RCV000422456RCV000419371RCV000427142RCV000423079RCV000429659RCV000428997RCV000431939RCV000440742RCV000432739RCV000444195RCV000477083RCV000444224RCV000561866RCV000439239RCV000785537RCV002288986RCV003168599
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) SNV
Germline/somatic		 Chr17:7674217 Pathogenic/Likely pathogenic Medulloblastoma
Ovarian serous cystadenocarcinoma
Squamous cell lung carcinoma
Malignant neoplasm of body of uterus
Glioblastoma
Breast neoplasm
Prostate adenocarcinoma
Pancreatic adenocarcinoma
Squamous cell carcinoma of the skin
Squamous cell carcinoma of the head and neck
Hepatocellular carcinoma
Gastric adenocarcinoma
Carcinoma of esophagus
Uterine carcinosarcoma
Small cell lung carcinoma
Acute myeloid leukemia
Lung adenocarcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16602484 rs_587782329

4 SubmittersRCV000420349RCV000423288RCV000424367RCV000425028RCV000422597RCV000426063RCV000432872RCV000431816RCV000433555RCV000430687RCV000438147RCV000440254RCV000444506RCV000440948RCV000441532RCV000444945RCV000445262RCV001311109RCV002392945RCV004022197
NM_000546.6(TP53):c.518T>G (p.Val173Gly) SNV
Germline/somatic		 Chr17:7675094 Conflicting classifications of pathogenicity Pancreatic adenocarcinoma
Adrenal cortex carcinoma
Malignant melanoma of skin
Acute myeloid leukemia
Hepatocellular carcinoma
Lung adenocarcinoma
Carcinoma of esophagus
Neoplasm of brain
Breast neoplasm
Small cell lung carcinoma
Gastric adenocarcinoma
Brainstem glioma
Malignant neoplasm of body of uterus
Neoplasm of the large intestine
Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the head and neck
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 CA16602485 rs_1057519747

3 SubmittersRCV000418455RCV000424145RCV000419153RCV000421182RCV000429875RCV000430527RCV000426044RCV000429147RCV000432060RCV000421399RCV000441241RCV000442290RCV000432754RCV000437220RCV000441421RCV000445056RCV000807434RCV003463825
NM_000546.6(TP53):c.518T>C (p.Val173Ala) SNV
Germline/somatic		 Chr17:7675094 Pathogenic/Likely pathogenic Ovarian serous cystadenocarcinoma
Carcinoma of esophagus
Adrenal cortex carcinoma
Neoplasm of brain
Malignant neoplasm of body of uterus
Brainstem glioma
Small cell lung carcinoma
Pancreatic adenocarcinoma
Gastric adenocarcinoma
Hepatocellular carcinoma
Squamous cell carcinoma of the head and neck
Breast neoplasm
Acute myeloid leukemia
Lung adenocarcinoma
Neoplasm of the large intestine
Malignant melanoma of skin
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16602486 rs_1057519747

5 SubmittersRCV000420735RCV000421990RCV000419648RCV000420982RCV000428561RCV000430804RCV000437348RCV000432237RCV000438619RCV000438785RCV000439921RCV000437553RCV000426247RCV000445170RCV000430991RCV000436282RCV000775880RCV001237773RCV002289516
NM_000546.6(TP53):c.404G>T (p.Cys135Phe) SNV
Germline/somatic		 Chr17:7675208 Pathogenic/Likely pathogenic Neoplasm of brain
Prostate adenocarcinoma
Adrenal cortex carcinoma
Neoplasm of the large intestine
Carcinoma of esophagus
Lung adenocarcinoma
Ovarian serous cystadenocarcinoma
Breast neoplasm
Gastric adenocarcinoma
Pancreatic adenocarcinoma
Squamous cell lung carcinoma
Hepatocellular carcinoma
Transitional cell carcinoma of the bladder
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16602985 rs_587781991

5 SubmittersRCV000417503RCV000418582RCV000425788RCV000426876RCV000427781RCV000428180RCV000434318RCV000436707RCV000435797RCV000436440RCV000438861RCV000444308RCV000444605RCV000492398RCV001203469RCV004022199
NM_000546.6(TP53):c.403T>C (p.Cys135Arg) SNV
Germline/somatic		 Chr17:7675209 Pathogenic/Likely pathogenic Neoplasm of brain
Breast neoplasm
Prostate adenocarcinoma
Lung adenocarcinoma
Adrenal cortex carcinoma
Carcinoma of esophagus
Pancreatic adenocarcinoma
Hepatocellular carcinoma
Neoplasm of the large intestine
Gastric adenocarcinoma
Squamous cell lung carcinoma
Transitional cell carcinoma of the bladder
Ovarian serous cystadenocarcinoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16602986 rs_1057519975

3 SubmittersRCV000418091RCV000423943RCV000422903RCV000425388RCV000426036RCV000430504RCV000433604RCV000432610RCV000434656RCV000440105RCV000441192RCV000444209RCV000444995RCV001383908RCV004022200
NM_000546.6(TP53):c.405C>G (p.Cys135Trp) SNV
Germline/somatic		 Chr17:7675207 Conflicting classifications of pathogenicity Carcinoma of esophagus
Pancreatic adenocarcinoma
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Lung adenocarcinoma
Adrenal cortex carcinoma
Prostate adenocarcinoma
Neoplasm of brain
Breast neoplasm
Neoplasm of the large intestine
Transitional cell carcinoma of the bladder
Squamous cell lung carcinoma
Gastric adenocarcinoma
Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16602987 rs_1057519976

5 SubmittersRCV000417767RCV000420893RCV000420220RCV000423274RCV000424924RCV000429841RCV000430892RCV000432245RCV000434979RCV000435704RCV000439451RCV000440498RCV000441628RCV000479510RCV000556410RCV002289519RCV002289518
NM_000546.6(TP53):c.403T>G (p.Cys135Gly) SNV
Germline/somatic		 Chr17:7675209 Likely pathogenic Prostate adenocarcinoma
Gastric adenocarcinoma
Squamous cell lung carcinoma
Neoplasm of the large intestine
Ovarian serous cystadenocarcinoma
Carcinoma of esophagus
Transitional cell carcinoma of the bladder
Breast neoplasm
Adrenal cortex carcinoma
Pancreatic adenocarcinoma
Hepatocellular carcinoma
Lung adenocarcinoma
Neoplasm of brain
Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Reviewed By Expert Panel
 CA16602989 rs_1057519975

5 SubmittersRCV000420954RCV000423071RCV000422074RCV000418158RCV000429525RCV000428411RCV000433361RCV000437581RCV000432330RCV000438642RCV000445231RCV000439732RCV000444598RCV000785515RCV000570655RCV000991142RCV004022201
NM_000546.6(TP53):c.981T>G (p.Tyr327Ter) SNV
Germline		 Chr17:7673547 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA10584585 rs_879254077

1 SubmittersRCV000235861
NM_000546.6(TP53):c.743G>C (p.Arg248Pro) SNV
Germline/somatic		 Chr17:7674220 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Gastric adenocarcinoma
Malignant neoplasm of body of uterus
Pancreatic adenocarcinoma
Malignant melanoma of skin
Breast neoplasm
Glioblastoma
Squamous cell carcinoma of the head and neck
Neoplasm of the large intestine
Medulloblastoma
B-cell chronic lymphocytic leukemia
Hepatocellular carcinoma
Ovarian serous cystadenocarcinoma
Multiple myeloma
Neoplasm of brain
Squamous cell lung carcinoma
Squamous cell carcinoma of the skin
Acute myeloid leukemia
Lung adenocarcinoma
Small cell lung carcinoma
Uterine carcinosarcoma
Myelodysplastic syndrome
Prostate adenocarcinoma
Brainstem glioma
Carcinoma of esophagus
Transitional cell carcinoma of the bladder
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10583676 rs_11540652

4 SubmittersRCV000229442RCV000420292RCV000421633RCV000425773RCV000430314RCV000434831RCV000431663RCV000432304RCV000432999RCV000436850RCV000438849RCV000445077RCV000418894RCV000419610RCV000426089RCV000435488RCV000436124RCV000441018RCV000444130RCV000444805RCV000420936RCV000424795RCV000425414RCV000430964RCV000441674RCV000443867RCV002378977RCV004020765
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) SNV
Germline/somatic		 Chr17:7674230 Pathogenic Li-fraumeni-like syndrome
Adenocarcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Lung adenocarcinoma
Transitional cell carcinoma of the bladder
Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the head and neck
Uterine carcinosarcoma
Carcinoma of esophagus
Brainstem glioma
Squamous cell lung carcinoma
Neoplasm of brain
Gastric adenocarcinoma
Pancreatic adenocarcinoma
Li-Fraumeni syndrome
Atypical teratoid rhabdoid tumor
Astrocytoma, anaplastic
Prostate adenocarcinoma
Glioblastoma
Neoplasm
Breast neoplasm
Hepatocellular carcinoma
Neoplasm of the large intestine
Neoplasm of ovary
Familial ovarian cancer
Breast carcinoma
Colorectal cancer
12 conditions
Malignant tumor of urinary bladder
Adrenocortical carcinoma, hereditary
Gastric cancer
TP53-related disorder
Xeroderma pigmentosum
Multiple acyl-CoA dehydrogenase deficiency		 Reviewed By Expert Panel
 CA000367 rs_28934575

31 SubmittersRCV000013162RCV000148909RCV000154014RCV000130147RCV000144669RCV000421457RCV000432898RCV000442506RCV000419767RCV000426307RCV000428113RCV000438107RCV000426990RCV000430925RCV000432120RCV000437643RCV000226657RCV000587017RCV000588736RCV000417419RCV000420452RCV000425581RCV000436979RCV000438801RCV000442529RCV000785316RCV001354825RCV001642222RCV001270274RCV002496337RCV003332080RCV003460464RCV003162245RCV003914832RCV004540999RCV004526594
NM_000546.6(TP53):c.673-1G>T SNV
Germline/somatic		 Chr17:7674291 Pathogenic Li-Fraumeni syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA10583677 rs_878854073

2 SubmittersRCV000228996RCV001610535
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) SNV
Germline/somatic		 Chr17:7673776 Pathogenic/Likely pathogenic Li-fraumeni-like syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Condition: not provided
Non-Hodgkin lymphoma
Malignant melanoma of skin
Glioblastoma
Prostate adenocarcinoma
Breast neoplasm
Gastric adenocarcinoma
Squamous cell carcinoma of the head and neck
Papillary renal cell carcinoma type 1
Malignant neoplasm of body of uterus
Ovarian serous cystadenocarcinoma
Transitional cell carcinoma of the bladder
Squamous cell lung carcinoma
Lung adenocarcinoma
Neoplasm of the large intestine
Hepatocellular carcinoma
Carcinoma of esophagus
Neoplasm of brain
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Pleomorphic xanthoastrocytoma
Astrocytoma, anaplastic
Squamous cell carcinoma of the skin
Pancreatic adenocarcinoma
Colorectal cancer
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000454 rs_28934574

31 SubmittersRCV000013161RCV000144670RCV000148905RCV000236400RCV000417906RCV000420798RCV000422920RCV000426680RCV000433225RCV000435581RCV000441472RCV000442231RCV000444687RCV000425909RCV000432561RCV000423580RCV000437607RCV000430759RCV000431084RCV000436175RCV000444544RCV000210145RCV000785546RCV000722016RCV000424430RCV000434706RCV001270278RCV003315223RCV004566738
NM_000546.6(TP53):c.358A>T (p.Lys120Ter) SNV
Germline		 Chr17:7676011 Pathogenic Li-fraumeni-like syndrome No Assertion Criteria Provided
 CA000132 rs_121912658

1 SubmittersRCV000013158
NM_000546.6(TP53):c.472C>T (p.Arg158Cys) SNV
Germline/somatic		 Chr17:7675140 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Lip and oral cavity carcinoma
Li-Fraumeni syndrome 1
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA000225 rs_587780068

11 SubmittersRCV000115723RCV000508084RCV000533951RCV001255633RCV002288596RCV003483477
NM_000546.6(TP53):c.652G>A (p.Val218Met) SNV
Germline		 Chr17:7674879 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583679 rs_878854072

3 SubmittersRCV000228072RCV001357802RCV002256136
NM_000546.6(TP53):c.994-1G>A SNV
Germline		 Chr17:7670716 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000528 rs_587782272

7 SubmittersRCV000131124RCV000786811RCV001380070RCV002288645RCV003992194
NM_000546.6(TP53):c.375G>T (p.Thr125=) SNV
Germline		 Chr17:7675994 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10575452 rs_55863639

4 SubmittersRCV000229813RCV000786841RCV002347868RCV004020764
NM_000546.6(TP53):c.97-4A>T SNV
Germline		 Chr17:7676276 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA003276 rs_746791390

4 SubmittersRCV000229785RCV000563713RCV001682937
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) SNV
Germline/somatic		 Chr17:7675124 Pathogenic Condition: not provided
Uterine carcinosarcoma
Lung adenocarcinoma
Neoplasm of brain
Neoplasm of the large intestine
Breast neoplasm
Malignant melanoma of skin
Ovarian serous cystadenocarcinoma
Li-Fraumeni syndrome
Squamous cell lung carcinoma
Small cell lung carcinoma
Pancreatic adenocarcinoma
Carcinoma of esophagus
Squamous cell carcinoma of the head and neck
Hepatocellular carcinoma
Brainstem glioma
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1		 Reviewed By Expert Panel
 CA000240 rs_148924904

7 SubmittersRCV000115725RCV000427698RCV000434917RCV000443742RCV000419252RCV000430191RCV000434251RCV000442798RCV000526324RCV000423543RCV000424864RCV000429510RCV000435593RCV000443833RCV000419946RCV000436926RCV000492788RCV000785334RCV004019613
NM_000546.6(TP53):c.976G>T (p.Glu326Ter) SNV
Germline/somatic		 Chr17:7673552 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10580908 rs_876659384

5 SubmittersRCV000218971RCV000633385RCV000785490RCV002288871
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) SNV
Germline/somatic		 Chr17:7673704 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Head and neck neoplasm
Neoplasm of the large intestine
Condition: not provided
Neoplasm of ovary
Lip and oral cavity carcinoma
Li-Fraumeni syndrome 1
Gastric cancer
Lung adenocarcinoma
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000495 rs_121913344

18 SubmittersRCV000130997RCV000232963RCV000422102RCV000428901RCV000356380RCV000785333RCV001255680RCV001310214RCV003162584RCV003322599RCV002307404
NM_000546.6(TP53):c.794T>C (p.Leu265Pro) SNV
Germline		 Chr17:7673826 Pathogenic/Likely pathogenic Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Rhabdomyosarcoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10584586 rs_879253942

7 SubmittersRCV000235981RCV000554509RCV000564617RCV000662855RCV001257518
NM_000546.6(TP53):c.535C>T (p.His179Tyr) SNV
Germline/somatic		 Chr17:7675077 Pathogenic/Likely pathogenic Condition: not provided
Glioblastoma
Ovarian serous cystadenocarcinoma
Neoplasm of the large intestine
Uterine carcinosarcoma
Small cell lung carcinoma
Squamous cell carcinoma of the head and neck
Neoplasm of brain
Lung adenocarcinoma
Squamous cell carcinoma of the skin
Pancreatic adenocarcinoma
Malignant melanoma of skin
Malignant neoplasm of body of uterus
Gallbladder carcinoma
Carcinoma of esophagus
Hepatocellular carcinoma
Squamous cell lung carcinoma
Gastric adenocarcinoma
Acute myeloid leukemia
Breast neoplasm
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000256 rs_587780070

9 SubmittersRCV000115726RCV000419735RCV000431087RCV000434379RCV000436304RCV000424007RCV000424716RCV000427283RCV000444227RCV000419024RCV000430411RCV000434725RCV000435360RCV000436095RCV000440222RCV000441827RCV000423020RCV000423688RCV000428854RCV000444364RCV000555493RCV000663095RCV000785312RCV002288597RCV003460828
NM_000546.6(TP53):c.698A>G (p.His233Arg) SNV
Germline		 Chr17:7674265 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA10584588 rs_879254233

4 SubmittersRCV000235730RCV000569303RCV001302749RCV002288936
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) SNV
Germline/somatic		 Chr17:7674241 Pathogenic/Likely pathogenic Hepatoblastoma
Bone osteosarcoma
Hereditary cancer-predisposing syndrome
Non-Hodgkin lymphoma
Brainstem glioma
Uterine carcinosarcoma
Papillary renal cell carcinoma, sporadic
Neoplasm of brain
Gallbladder carcinoma
Squamous cell carcinoma of the skin
Carcinoma of esophagus
Breast neoplasm
Malignant neoplasm of body of uterus
Malignant melanoma of skin
Neoplasm of the large intestine
Pancreatic adenocarcinoma
Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the head and neck
Lung adenocarcinoma
Glioblastoma
Transitional cell carcinoma of the bladder
Papillary renal cell carcinoma type 1
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Neoplasm of ovary
12 conditions
Lip and oral cavity carcinoma
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000359 rs_28934573

11 SubmittersRCV000013153RCV000013154RCV000130168RCV000418653RCV000421750RCV000426907RCV000430665RCV000433125RCV000441622RCV000417576RCV000422867RCV000423921RCV000435867RCV000429321RCV000436959RCV000438965RCV000441398RCV000426268RCV000428255RCV000434173RCV000436527RCV000444801RCV000559355RCV002288485RCV000785290RCV002496336RCV001255673RCV003114189
NM_000546.6(TP53):c.655C>T (p.Pro219Ser) SNV
Germline		 Chr17:7674876 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10584589 rs_879253894

5 SubmittersRCV000492115RCV000576805RCV001065230RCV001705300
NM_000546.6(TP53):c.538G>A (p.Glu180Lys) SNV
Germline		 Chr17:7675074 Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Reviewed By Expert Panel
 CA10584590 rs_879253911

4 SubmittersRCV000235571RCV000492319RCV000544036
NM_000546.6(TP53):c.490A>G (p.Lys164Glu) SNV
Germline		 Chr17:7675122 Conflicting classifications of pathogenicity Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA10584591 rs_879254249

4 SubmittersRCV000235745RCV000541487RCV002288938RCV002288937
NM_000546.6(TP53):c.814G>T (p.Val272Leu) SNV
Germline/somatic		 Chr17:7673806 Likely pathogenic Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Squamous cell carcinoma of the skin
Medulloblastoma
Multiple myeloma
Li-Fraumeni syndrome
Breast neoplasm
Gastric adenocarcinoma
Squamous cell carcinoma of the head and neck
Transitional cell carcinoma of the bladder
Neoplasm of the large intestine
Ovarian serous cystadenocarcinoma
Pancreatic adenocarcinoma
Papillary renal cell carcinoma type 1
Lung adenocarcinoma
Malignant neoplasm of body of uterus		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000430 rs_121912657

6 SubmittersRCV000013152RCV000164988RCV000427077RCV000437706RCV000443589RCV001221969RCV000420507RCV000417682RCV000426429RCV000428361RCV000431193RCV000432989RCV000434905RCV000437100RCV000439021RCV000443570
NM_000546.6(TP53):c.473G>C (p.Arg158Pro) SNV
Germline		 Chr17:7675139 Likely pathogenic Condition: not provided
Li-Fraumeni syndrome
Squamous cell carcinoma of the head and neck
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10584592 rs_587782144

5 SubmittersRCV000236862RCV000548853RCV000989719RCV002288931RCV002288932
NM_000546.6(TP53):c.97-2A>G SNV
Germline		 Chr17:7676274 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA10584595 rs_879254212

1 SubmittersRCV000236029
NM_000546.6(TP53):c.413C>T (p.Ala138Val) SNV
Germline/somatic		 Chr17:7675199 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Adrenal cortex carcinoma
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA000168 rs_750600586

5 SubmittersRCV000164195RCV000813957RCV003474852RCV003995323RCV004019963
NM_000546.6(TP53):c.751A>C (p.Ile251Leu) SNV
Germline/somatic		 Chr17:7674212 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Gastric cancer
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000394 rs_730882007

6 SubmittersRCV000161037RCV000492548RCV000785277RCV002280104RCV002288694
NM_000546.6(TP53):c.752T>G (p.Ile251Ser) SNV
Germline		 Chr17:7674211 Conflicting classifications of pathogenicity Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA000396 rs_730882027

4 SubmittersRCV000161070RCV003621508RCV004019947RCV004019946
NM_000546.6(TP53):c.736A>C (p.Met246Leu) SNV
Germline		 Chr17:7674227 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA000373 rs_483352695

2 SubmittersRCV000166380RCV002516500
NM_000546.6(TP53):c.782+12C>T SNV
Germline		 Chr17:7674169 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA000411 rs_17881780

6 SubmittersRCV000161049RCV000580153RCV000663058RCV002053940
NM_000546.6(TP53):c.615T>A (p.Tyr205Ter) SNV
Germline		 Chr17:7674916 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA000298 rs_786202222

1 SubmittersRCV000164938
NM_000546.6(TP53):c.578A>T (p.His193Leu) SNV
Germline/somatic		 Chr17:7674953 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Prostate adenocarcinoma
Transitional cell carcinoma of the bladder
Breast neoplasm
Squamous cell carcinoma of the head and neck
Uterine carcinosarcoma
B-cell chronic lymphocytic leukemia
Neoplasm of brain
Hepatocellular carcinoma
Brainstem glioma
Pancreatic adenocarcinoma
Carcinoma of esophagus
Papillary renal cell carcinoma, sporadic
Small cell lung carcinoma
Ovarian serous cystadenocarcinoma
Lung adenocarcinoma
Neoplasm of the large intestine
Malignant neoplasm of body of uterus
Acute myeloid leukemia
Squamous cell lung carcinoma
Gastric adenocarcinoma
Li-Fraumeni syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA000276 rs_786201838

5 SubmittersRCV000165315RCV000422830RCV000427615RCV000432479RCV000420523RCV000437609RCV000421777RCV000441921RCV000443734RCV000428359RCV000437660RCV000419701RCV000438323RCV000421145RCV000438373RCV000439007RCV000431198RCV000426960RCV000433537RCV000430839RCV000444673RCV000697802RCV000785542RCV004019975
NM_000546.6(TP53):c.578A>G (p.His193Arg) SNV
Germline/somatic		 Chr17:7674953 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Lung adenocarcinoma
Uterine carcinosarcoma
Pancreatic adenocarcinoma
Prostate adenocarcinoma
Small cell lung carcinoma
Neoplasm of brain
Breast neoplasm
Acute myeloid leukemia
Gastric adenocarcinoma
Squamous cell lung carcinoma
B-cell chronic lymphocytic leukemia
Transitional cell carcinoma of the bladder
Carcinoma of esophagus
Papillary renal cell carcinoma, sporadic
Brainstem glioma
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Malignant neoplasm of body of uterus
Hepatocellular carcinoma
Neoplasm of the large intestine
Li-Fraumeni syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000274 rs_786201838

10 SubmittersRCV000164329RCV000255425RCV000423280RCV000424475RCV000425611RCV000427767RCV000433342RCV000439433RCV000418086RCV000440903RCV000418288RCV000445029RCV000417979RCV000428340RCV000423052RCV000439827RCV000434391RCV000429618RCV000434549RCV000445148RCV000435651RCV000435870RCV000460847RCV000785346RCV002288732RCV003474857
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) SNV
Germline/somatic		 Chr17:7675085 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Squamous cell lung carcinoma
Breast neoplasm
Acute myeloid leukemia
Carcinoma of esophagus
Papillary renal cell carcinoma type 1
Neoplasm of the large intestine
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Prostate adenocarcinoma
Lung adenocarcinoma
Pancreatic adenocarcinoma
Squamous cell carcinoma of the head and neck
Transitional cell carcinoma of the bladder
Hepatocellular carcinoma
Neoplasm of brain
Li-Fraumeni syndrome
Familial ovarian cancer
Li-Fraumeni syndrome 1
Squamous cell carcinoma
TP53-related disorder
Adrenocortical carcinoma, hereditary
Adrenal cortex carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000254 rs_786202962

10 SubmittersRCV000166045RCV000255616RCV000421421RCV000429854RCV000432068RCV000424233RCV000435778RCV000437356RCV000430147RCV000441417RCV000433025RCV000441274RCV000438398RCV000418577RCV000419236RCV000422335RCV000430568RCV000461158RCV001354219RCV002288754RCV003128588RCV003407616RCV003474872RCV003995473
NM_000546.6(TP53):c.487T>G (p.Tyr163Asp) SNV
Germline/somatic		 Chr17:7675125 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Small cell lung carcinoma
Neoplasm of the large intestine
Carcinoma of esophagus
Breast neoplasm
Pancreatic adenocarcinoma
Ovarian serous cystadenocarcinoma
Uterine carcinosarcoma
Neoplasm of brain
Hepatocellular carcinoma
Brainstem glioma
Lung adenocarcinoma
Malignant melanoma of skin
Squamous cell carcinoma of the head and neck
Squamous cell lung carcinoma
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA000239 rs_786203436

3 SubmittersRCV000166739RCV000417885RCV000430982RCV000434903RCV000426124RCV000441262RCV000444147RCV000420162RCV000432709RCV000420721RCV000435516RCV000424608RCV000425235RCV000433509RCV000443587RCV001850353
NM_000546.6(TP53):c.464C>G (p.Thr155Ser) SNV
Germline		 Chr17:7675148 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA000210 rs_786202752

6 SubmittersRCV000165724RCV000986051RCV000804037RCV001192618
NM_000546.6(TP53):c.431A>C (p.Gln144Pro) SNV
Germline/somatic		 Chr17:7675181 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hepatocellular carcinoma
Squamous cell carcinoma of the head and neck
Transitional cell carcinoma of the bladder
Gastric adenocarcinoma
Lung adenocarcinoma
Malignant neoplasm of body of uterus
Ovarian serous cystadenocarcinoma
Breast neoplasm
Neoplasm of ovary
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA000182 rs_786203071

5 SubmittersRCV000166212RCV000423271RCV000439592RCV000422986RCV000419105RCV000433977RCV000428907RCV000440211RCV000439853RCV000785331RCV001850338RCV002288758
NM_000546.6(TP53):c.728T>C (p.Met243Thr) SNV
Germline		 Chr17:7674235 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 CA000365 rs_730882006

4 SubmittersRCV000161035RCV000222280RCV000686581RCV003462110
NM_000546.6(TP53):c.376-2A>G SNV
Germline/somatic		 Chr17:7675238 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Neoplasm of ovary
Gallbladder cancer
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000146 rs_786202799

8 SubmittersRCV000165794RCV000480344RCV000554039RCV000785343RCV001374443RCV002288750
NM_000546.6(TP53):c.587G>T (p.Arg196Leu) SNV
Germline/somatic		 Chr17:7674944 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA000284 rs_483352697

5 SubmittersRCV000087172RCV001024636RCV001523825RCV002514536
NM_000546.6(TP53):c.374C>T (p.Thr125Met) SNV
Germline/somatic		 Chr17:7675995 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Neoplasm of brain
Squamous cell carcinoma of the head and neck
Squamous cell lung carcinoma
Adrenal cortex carcinoma
Ovarian serous cystadenocarcinoma
Malignant melanoma of skin
Pancreatic adenocarcinoma
Papillary renal cell carcinoma type 1
Acute myeloid leukemia
Neoplasm of the large intestine
Breast neoplasm
Lung adenocarcinoma
Squamous cell carcinoma of the skin
Hepatocellular carcinoma
Glioblastoma
Transitional cell carcinoma of the bladder
Carcinoma of esophagus
Small cell lung carcinoma
Brainstem glioma
Gastric adenocarcinoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 CA000140 rs_786201057

13 SubmittersRCV000162461RCV000237013RCV000421040RCV000419372RCV000421688RCV000428519RCV000430781RCV000433024RCV000431915RCV000438666RCV000420028RCV000425628RCV000427448RCV000432405RCV000436631RCV000438105RCV000417610RCV000439150RCV000442735RCV000426825RCV000443535RCV000441098RCV000457119RCV000576336RCV003462117
NM_000546.6(TP53):c.305C>T (p.Thr102Ile) SNV
Germline		 Chr17:7676064 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA000098 rs_786202717

5 SubmittersRCV000165667RCV000819967RCV002288749
NM_000546.6(TP53):c.100C>G (p.Pro34Ala) SNV
Germline		 Chr17:7676269 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA000012 rs_786201968

6 SubmittersRCV000165887RCV000205889RCV000483753RCV002288753
NM_000546.6(TP53):c.100C>A (p.Pro34Thr) SNV
Germline		 Chr17:7676269 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA000011 rs_786201968

6 SubmittersRCV000164526RCV000471959RCV001582646RCV002288737
NM_000546.6(TP53):c.83A>T (p.Glu28Val) SNV
Germline		 Chr17:7676395 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 CA000449 rs_786202289

4 SubmittersRCV000165025RCV001850309RCV002288739RCV004567258
NM_000546.6(TP53):c.842A>T (p.Asp281Val) SNV
Germline/somatic		 Chr17:7673778 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Uterine carcinosarcoma
Squamous cell carcinoma of the skin
Pancreatic adenocarcinoma
Papillary renal cell carcinoma type 1
Multiple myeloma
Squamous cell carcinoma of the head and neck
Breast neoplasm
Malignant neoplasm of body of uterus
Squamous cell lung carcinoma
B-cell chronic lymphocytic leukemia
Ovarian serous cystadenocarcinoma
Transitional cell carcinoma of the bladder
Glioblastoma
Lung adenocarcinoma
Malignant melanoma of skin
Gastric adenocarcinoma
Hepatocellular carcinoma
Neuroblastoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000452 rs_587781525

5 SubmittersRCV000161072RCV000215048RCV000418100RCV000428503RCV000426125RCV000434194RCV000432892RCV000435682RCV000435739RCV000440916RCV000442104RCV000417569RCV000423186RCV000425401RCV000423894RCV000431328RCV000433464RCV000438736RCV000443096RCV000441595RCV000799325RCV002288706
NM_000546.6(TP53):c.66A>G (p.Leu22=) SNV
Germline		 Chr17:7676529 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Squamous cell carcinoma of the head and neck
not specified		 Criteria Provided
Conflicting Classifications
 CA000323 rs_748527030

7 SubmittersRCV000163369RCV000196762RCV000483133RCV000989728RCV001174848
NM_000546.6(TP53):c.993+13G>C SNV
Germline		 Chr17:7673522 Conflicting classifications of pathogenicity not specified
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA000522 rs_369599972

5 SubmittersRCV000161051RCV000409061RCV000773086RCV002053941RCV003149985
NM_000546.6(TP53):c.63C>T (p.Asp21=) SNV
Germline/somatic		 Chr17:7676532 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Familial cancer of breast
Breast and/or ovarian cancer
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA000304 rs_1800369

12 SubmittersRCV000163241RCV000196365RCV001270281RCV003492674RCV000430891RCV000590622
NM_000546.6(TP53):c.646G>A (p.Val216Met) SNV
Germline/somatic		 Chr17:7674885 Pathogenic/Likely pathogenic Condition: not provided
Li-Fraumeni syndrome
Breast neoplasm
Ovarian serous cystadenocarcinoma
Pancreatic adenocarcinoma
Squamous cell carcinoma of the skin
Carcinoma of esophagus
Neoplasm of brain
Squamous cell lung carcinoma
Uterine carcinosarcoma
Lung adenocarcinoma
Glioblastoma
Squamous cell carcinoma of the head and neck
Hereditary cancer-predisposing syndrome
not specified
Li-Fraumeni syndrome 1
Neoplasm of ovary
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000308 rs_730882025

13 SubmittersRCV000161067RCV000168150RCV000421726RCV000421819RCV000431843RCV000426366RCV000438503RCV000424101RCV000428263RCV000436614RCV000432944RCV000443170RCV000444190RCV000561534RCV000583984RCV000663213RCV000785523RCV003474837
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) SNV
Germline/somatic		 Chr17:7675232 Conflicting classifications of pathogenicity Condition: not provided
not specified
Neoplasm of ovary
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 CA000148 rs_730881999

9 SubmittersRCV000161024RCV000606528RCV000785332RCV000633384RCV003162681RCV004019945RCV003474836
NM_000546.6(TP53):c.266C>T (p.Pro89Leu) SNV
Germline		 Chr17:7676103 Conflicting classifications of pathogenicity Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA000089 rs_730881994

6 SubmittersRCV000161019RCV000560488RCV001016264RCV002288683
NM_000546.6(TP53):c.920-2A>G SNV
Germline/somatic		 Chr17:7673610 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Neoplasm of ovary
Breast and/or ovarian cancer
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000500 rs_397516439

10 SubmittersRCV000036537RCV000132190RCV000483617RCV000785489RCV001798102RCV002288536
NM_000546.6(TP53):c.97-9C>T SNV
Germline		 Chr17:7676281 Conflicting classifications of pathogenicity not specified
Condition: not provided
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA000518 rs_202217267

12 SubmittersRCV000161046RCV000195920RCV000410371RCV000580612RCV001079867
NM_000546.6(TP53):c.649G>A (p.Val217Met) SNV
Germline		 Chr17:7674882 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA000309 rs_35163653

2 SubmittersRCV000161936RCV002354406
NM_000546.6(TP53):c.1135C>T (p.Arg379Cys) SNV
Germline		 Chr17:7669656 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA000043 rs_749061599

5 SubmittersRCV000166233RCV000559034RCV002288759
NM_000546.6(TP53):c.1078G>A (p.Gly360Arg) SNV
Germline		 Chr17:7670631 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
TP53-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA000028 rs_786203298

7 SubmittersRCV000166545RCV001241003RCV001567714RCV003416041RCV003987388
NM_000546.6(TP53):c.1000G>A (p.Gly334Arg) SNV
Germline		 Chr17:7670709 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA000006 rs_730882028

2 SubmittersRCV000165615RCV002516487
NM_000546.6(TP53):c.920-5C>T SNV
Germline		 Chr17:7673613 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA000502 rs_34361146

7 SubmittersRCV000164926RCV000587880RCV001087552RCV001283870
NM_000546.6(TP53):c.493C>T (p.Gln165Ter) SNV
Germline/somatic		 Chr17:7675119 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Neoplasm of ovary
Squamous cell carcinoma of the head and neck
Lip and oral cavity carcinoma
Familial cancer of breast
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000243 rs_730882001

10 SubmittersRCV000161028RCV000219202RCV000633373RCV000785484RCV001270262RCV001255634RCV002272147RCV002288688
NM_000546.6(TP53):c.524G>T (p.Arg175Leu) SNV
Germline		 Chr17:7675088 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000252 rs_28934578

3 SubmittersRCV000161065RCV000810785RCV002288703
NM_000546.6(TP53):c.589G>A (p.Val197Met) SNV
Germline		 Chr17:7674942 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA000285 rs_786204041

5 SubmittersRCV000167874RCV001024656RCV002288770
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) SNV
Germline/somatic		 Chr17:7673764 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Squamous cell carcinoma of the head and neck
Acute myeloid leukemia
Neoplasm of the large intestine
Transitional cell carcinoma of the bladder
Gastric adenocarcinoma
Breast neoplasm
Pancreatic adenocarcinoma
Carcinoma of esophagus
Hepatocellular carcinoma
Malignant melanoma of skin
Neoplasm of brain
Vulvar adenocarcinoma of mammary gland type
Squamous cell carcinoma of the skin
Small cell lung carcinoma
Ovarian serous cystadenocarcinoma
Lung adenocarcinoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000464 rs_786201059

7 SubmittersRCV000162466RCV000255724RCV000420427RCV000422231RCV000424388RCV000431629RCV000426778RCV000437639RCV000419251RCV000421987RCV000427820RCV000431848RCV000432936RCV000506006RCV000437453RCV000439250RCV000443333RCV000443492RCV000466372RCV002288710
NM_000546.6(TP53):c.672G>A (p.Glu224=) SNV
Germline		 Chr17:7674859 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000328 rs_267605076

5 SubmittersRCV000567974RCV000786830RCV000800846RCV002288559
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr) SNV
Germline		 Chr17:7673790 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Malignant tumor of breast
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 CA000438 rs_763098116

7 SubmittersRCV000165199RCV000254809RCV000456858RCV001357202RCV003474865
NM_000546.6(TP53):c.827C>G (p.Ala276Gly) SNV
Germline		 Chr17:7673793 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000436 rs_786202082

2 SubmittersRCV000164718RCV003765021
NM_000546.6(TP53):c.814G>A (p.Val272Met) SNV
Germline/somatic		 Chr17:7673806 Pathogenic Hereditary cancer-predisposing syndrome
Papillary renal cell carcinoma type 1
Transitional cell carcinoma of the bladder
Squamous cell carcinoma of the skin
Squamous cell carcinoma of the head and neck
Lung adenocarcinoma
Medulloblastoma
Malignant neoplasm of body of uterus
Neoplasm of the large intestine
Breast neoplasm
Li-Fraumeni syndrome
Pancreatic adenocarcinoma
Ovarian serous cystadenocarcinoma
Gastric adenocarcinoma
Multiple myeloma
Neoplasm of ovary
Li-Fraumeni syndrome 1
Condition: not provided		 Reviewed By Expert Panel
 CA000427 rs_121912657

8 SubmittersRCV000165304RCV000418746RCV000425268RCV000426406RCV000432177RCV000436402RCV000436602RCV000434621RCV000443071RCV000443052RCV000457645RCV000424351RCV000424542RCV000434295RCV000441086RCV000785341RCV001527085RCV002243833
NM_000546.6(TP53):c.892G>T (p.Glu298Ter) SNV
Germline/somatic		 Chr17:7673728 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Neoplasm of ovary
Rhabdomyosarcoma
Li-Fraumeni syndrome 1		 Reviewed By Expert Panel
 CA000484 rs_201744589

7 SubmittersRCV000079204RCV000216964RCV000559898RCV000785528RCV001257516RCV004019532
NM_000546.6(TP53):c.707A>C (p.Tyr236Ser) SNV
Germline		 Chr17:7674256 Conflicting classifications of pathogenicity Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA000346 rs_730882026

3 SubmittersRCV000161069RCV001373091RCV002288705RCV002288704
NM_000546.6(TP53):c.740A>T (p.Asn247Ile) SNV
Germline/somatic		 Chr17:7674223 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA000378 rs_786201762

3 SubmittersRCV000164218RCV000785503RCV001338713
NM_000546.6(TP53):c.709A>G (p.Met237Val) SNV
Germline/somatic		 Chr17:7674254 Conflicting classifications of pathogenicity not specified
Li-Fraumeni syndrome
Brainstem glioma
Malignant neoplasm of body of uterus
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Neoplasm of the large intestine
Squamous cell carcinoma of the head and neck
Breast neoplasm
Carcinoma of esophagus
Lung adenocarcinoma
Pancreatic adenocarcinoma
Squamous cell lung carcinoma
Neoplasm of brain
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA000348 rs_730882004

6 SubmittersRCV000161033RCV000200500RCV000421083RCV000421733RCV000430423RCV000431774RCV000439317RCV000439996RCV000419726RCV000422107RCV000429307RCV000434187RCV000443583RCV000443569RCV001526334RCV002288692
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) SNV
Germline/somatic		 Chr17:7674250 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Hepatocellular carcinoma
Lung adenocarcinoma
Gastric adenocarcinoma
Neoplasm of brain
B-cell chronic lymphocytic leukemia
Multiple myeloma
Ovarian serous cystadenocarcinoma
Glioblastoma
Neoplasm of uterine cervix
Uterine carcinosarcoma
Pancreatic adenocarcinoma
Carcinoma of esophagus
Transitional cell carcinoma of the bladder
Breast neoplasm
Malignant neoplasm of body of uterus
Neoplasm of the large intestine
Squamous cell carcinoma of the head and neck
Neoplasm of ovary
Gallbladder cancer
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000351 rs_730882005

10 SubmittersRCV000161034RCV000167907RCV000235220RCV000418002RCV000420202RCV000427976RCV000426733RCV000429110RCV000439129RCV000442204RCV000433120RCV000442285RCV000436794RCV000438032RCV000417749RCV000421991RCV000426546RCV000431283RCV000437851RCV000444562RCV000785261RCV001374444RCV002288693RCV003462109
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) SNV
Germline/somatic		 Chr17:7673803 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Malignant tumor of prostate
Li-Fraumeni syndrome
Condition: not provided
Breast neoplasm
Neoplasm
Hepatocellular carcinoma
Acute myeloid leukemia
Neoplasm of ovary
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000432 rs_121913343

19 SubmittersRCV000131966RCV000144665RCV000149051RCV000205625RCV000254692RCV000421090RCV000431786RCV000432002RCV000442470RCV000785470RCV003466889
NM_000546.6(TP53):c.380C>G (p.Ser127Cys) SNV
Germline		 Chr17:7675232 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 CA349567 rs_730881999

1 SubmittersRCV000205404
NM_000546.6(TP53):c.*1175A>C SNV
Germline		 Chr17:7668434 Conflicting classifications of pathogenicity Basal cell carcinoma, susceptibility to, 7
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided
TP53-related disorder		 Criteria Provided
Conflicting Classifications
 CA000049 rs_78378222

7 SubmittersRCV000029217RCV000412103RCV000492363RCV002262575RCV003914864
NM_000546.6(TP53):c.854A>T (p.Glu285Val) SNV
Germline		 Chr17:7673766 Pathogenic Adrenocortical carcinoma, pediatric
Choroid plexus carcinoma
Li-Fraumeni syndrome		 Criteria Provided
Single Submitter
 CA000463 rs_121912667

2 SubmittersRCV000013184RCV000013185RCV000813961
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) SNV
Germline/somatic		 Chr17:7674947 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Lung adenocarcinoma
Acute myeloid leukemia
Squamous cell lung carcinoma
Hepatocellular carcinoma
Ovarian serous cystadenocarcinoma
Multiple myeloma
Breast neoplasm
Uterine carcinosarcoma
Neoplasm of brain
Carcinoma of esophagus
B-cell chronic lymphocytic leukemia
Neoplasm of the large intestine
Glioblastoma
Pancreatic adenocarcinoma
Squamous cell carcinoma of the head and neck
Gastric adenocarcinoma
Condition: not provided
Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 CA002232 rs_760043106

12 SubmittersRCV000198789RCV000421097RCV000421751RCV000429852RCV000434805RCV000436603RCV000442071RCV000419621RCV000438726RCV000418938RCV000423911RCV000428484RCV000429211RCV000434089RCV000437301RCV000439388RCV000441624RCV000487386RCV000785324RCV001024600RCV001271054RCV002288812RCV003474953
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) SNV
Germline/somatic		 Chr17:7674872 Pathogenic Li-Fraumeni syndrome 1
Breast neoplasm
Malignant neoplasm of body of uterus
Neoplasm of the large intestine
Hepatocellular carcinoma
Pancreatic adenocarcinoma
Papillary renal cell carcinoma type 1
Malignant melanoma of skin
Ovarian serous cystadenocarcinoma
Transitional cell carcinoma of the bladder
Papillary renal cell carcinoma, sporadic
Glioblastoma
Gastric adenocarcinoma
Li-Fraumeni syndrome
Squamous cell lung carcinoma
Lung adenocarcinoma
Neoplasm of ovary
Squamous cell carcinoma of the head and neck
Prostate adenocarcinoma
Small cell lung carcinoma
Uterine carcinosarcoma
Neoplasm of brain
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000314 rs_121912666

6 SubmittersRCV000013183RCV000429097RCV000435597RCV000441465RCV000423167RCV000424238RCV000417473RCV000432708RCV000425300RCV000436486RCV000441285RCV000444276RCV000445060RCV000472593RCV000418406RCV000422874RCV000785481RCV000425801RCV000428157RCV000430581RCV000433786RCV000443214RCV003162249
NM_000546.6(TP53):c.388C>T (p.Leu130Phe) SNV
Germline		 Chr17:7675224 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
not specified
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA339065 rs_863224683

6 SubmittersRCV000200055RCV000571787RCV002271460RCV002288816
NM_000546.6(TP53):c.374C>A (p.Thr125Lys) SNV
Germline/somatic		 Chr17:7675995 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Adrenal cortex carcinoma
Carcinoma of esophagus
Neoplasm of brain
Breast neoplasm
Transitional cell carcinoma of the bladder
Gastric adenocarcinoma
Squamous cell lung carcinoma
Acute myeloid leukemia
Malignant melanoma of skin
Neoplasm of the large intestine
Small cell lung carcinoma
Pancreatic adenocarcinoma
Squamous cell carcinoma of the skin
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Brainstem glioma
Lung adenocarcinoma
Glioblastoma
Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA337257 rs_786201057

3 SubmittersRCV000197507RCV000421753RCV000423507RCV000438784RCV000425663RCV000427801RCV000430716RCV000433115RCV000422366RCV000436943RCV000426240RCV000430953RCV000442723RCV000443241RCV000433745RCV000443320RCV000441651RCV000420405RCV000420607RCV000431571RCV000437594RCV003165469
NM_000546.6(TP53):c.566C>T (p.Ala189Val) SNV
Germline		 Chr17:7674965 Conflicting classifications of pathogenicity Familial colorectal cancer
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
not specified
Hereditary breast ovarian cancer syndrome
Li-Fraumeni syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA000270 rs_121912665

11 SubmittersRCV000013182RCV000132058RCV000144671RCV001192620RCV001030736RCV000536677RCV003476892
NM_000546.6(TP53):c.171C>A (p.Asp57Glu) SNV
Germline		 Chr17:7676198 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA000060 rs_587782776

6 SubmittersRCV000132310RCV000411346RCV002514753
NM_000546.6(TP53):c.700T>G (p.Tyr234Asp) SNV
Germline/somatic		 Chr17:7674263 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Gastric adenocarcinoma
Neoplasm of the large intestine
Hepatocellular carcinoma
Squamous cell lung carcinoma
Small cell lung carcinoma
Glioblastoma
Ovarian serous cystadenocarcinoma
Prostate adenocarcinoma
Pancreatic adenocarcinoma
Squamous cell carcinoma of the head and neck
Carcinoma of esophagus
Adrenal cortex carcinoma
Breast neoplasm
Transitional cell carcinoma of the bladder
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA348450 rs_864622237

4 SubmittersRCV000204217RCV000424345RCV000424462RCV000430896RCV000433956RCV000432845RCV000433328RCV000445176RCV000418073RCV000445265RCV000423238RCV000425587RCV000435222RCV000440475RCV000441597RCV000492197RCV004020511
NM_000546.6(TP53):c.173C>G (p.Pro58Arg) SNV
Germline		 Chr17:7676196 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Li-Fraumeni syndrome 1
Condition: not provided
Li-Fraumeni syndrome
Breast and/or ovarian cancer
TP53-related disorder		 Criteria Provided
Conflicting Classifications
 CA000061 rs_144386518

13 SubmittersRCV000115715RCV000122181RCV000662515RCV000586104RCV001086750RCV003492489RCV003952551
NM_000546.6(TP53):c.1015G>A (p.Glu339Lys) SNV
Germline		 Chr17:7670694 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary breast ovarian cancer syndrome
TP53-related disorder		 Criteria Provided
Conflicting Classifications
 CA000017 rs_17882252

11 SubmittersRCV000132285RCV000254694RCV001081368RCV001127282RCV001030734RCV003891671
NM_000546.6(TP53):c.887A>G (p.His296Arg) SNV
Somatic		 Chr17:7673733 Likely pathogenic Condition: not provided No Assertion Criteria Provided
 CA000476 rs_483352696

1 SubmittersRCV000087174
NM_000546.6(TP53):c.202G>T (p.Glu68Ter) SNV
Germline		 Chr17:7676167 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA353535 rs_869312782

3 SubmittersRCV000210192RCV002288839RCV001853361
NM_000546.6(TP53):c.517G>A (p.Val173Met) SNV
Germline/somatic		 Chr17:7675095 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant neoplasm of body of uterus
Hepatocellular carcinoma
Squamous cell carcinoma of the head and neck
Lung adenocarcinoma
Neoplasm of brain
Gastric adenocarcinoma
Breast neoplasm
Pancreatic adenocarcinoma
Li-Fraumeni syndrome
Carcinoma of esophagus
Brainstem glioma
Small cell lung carcinoma
Ovarian serous cystadenocarcinoma
Neoplasm of the large intestine
Adrenal cortex carcinoma
Malignant melanoma of skin
Neoplasm of ovary
Lip and oral cavity carcinoma		 Reviewed By Expert Panel
 CA10577579 rs_876660754

9 SubmittersRCV000214341RCV000223396RCV000423333RCV000418817RCV000424469RCV000429913RCV000435365RCV000441217RCV000418173RCV000418768RCV000477355RCV000429546RCV000435180RCV000440133RCV000423542RCV000433605RCV000434638RCV000439338RCV000785308RCV001255635
NM_000546.6(TP53):c.1115A>G (p.Lys372Arg) SNV
Germline		 Chr17:7669676 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
TP53-related disorder		 Criteria Provided
Conflicting Classifications
 CA10580901 rs_876658876

4 SubmittersRCV000217059RCV002288860RCV003401139
NM_000546.6(TP53):c.1010G>T (p.Arg337Leu) SNV
Germline/somatic		 Chr17:7670699 Likely pathogenic Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000015 rs_121912664

5 SubmittersRCV000132259RCV000785297RCV002288655RCV003237742
NM_000546.6(TP53):c.248C>T (p.Ala83Val) SNV
Germline		 Chr17:7676121 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Condition: not provided
Li-Fraumeni syndrome
not specified
TP53-related disorder		 Criteria Provided
Conflicting Classifications
 CA000083 rs_201717599

10 SubmittersRCV000115716RCV000409540RCV000679367RCV001082818RCV001796963RCV003891612
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) SNV
Germline/somatic		 Chr17:7675157 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Familial cancer of breast
Lip and oral cavity carcinoma
Squamous cell carcinoma of the head and neck
Adrenocortical carcinoma, hereditary		 Reviewed By Expert Panel
 CA000204 rs_587782705

16 SubmittersRCV000132156RCV000168122RCV000583667RCV000677669RCV000755703RCV001255632RCV001270267RCV003462034
NM_000546.6(TP53):c.1101-1G>A SNV
Germline		 Chr17:7669691 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10580902 rs_876658982

7 SubmittersRCV000222547RCV000466199RCV001252683RCV001535521
NM_000546.6(TP53):c.1073A>T (p.Glu358Val) SNV
Germline		 Chr17:7670636 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Li-Fraumeni syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA000790 rs_773553186

7 SubmittersRCV000219841RCV000249541RCV000463320RCV001557066
NM_000546.6(TP53):c.1010G>A (p.Arg337His) SNV
Germline		 Chr17:7670699 Pathogenic/Likely pathogenic Adrenocortical carcinoma, pediatric
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Breast neoplasm
Li-Fraumeni syndrome 1
Condition: not provided
Squamous cell carcinoma of the head and neck
Hereditary breast ovarian cancer syndrome
Gastric cancer
Adrenocortical carcinoma, hereditary
12 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000013 rs_121912664

21 SubmittersRCV000013178RCV000128923RCV000197240RCV000413754RCV000576817RCV000481814RCV000989700RCV002307364RCV003162248RCV001375632RCV002496338
NM_000546.6(TP53):c.711G>A (p.Met237Ile) SNV
Germline/somatic		 Chr17:7674252 Pathogenic Hereditary cancer-predisposing syndrome
Ovarian serous cystadenocarcinoma
Malignant neoplasm of body of uterus
Gastric adenocarcinoma
Breast neoplasm
Pancreatic adenocarcinoma
Neoplasm of brain
Brainstem glioma
Lung adenocarcinoma
Neoplasm of the large intestine
Squamous cell carcinoma of the head and neck
Squamous cell lung carcinoma
Carcinoma of esophagus
Li-Fraumeni syndrome
not specified
Neoplasm of ovary
Breast and/or ovarian cancer
Li-Fraumeni syndrome 1
Condition: not provided
Adrenocortical carcinoma, hereditary		 Reviewed By Expert Panel
 CA000349 rs_587782664

11 SubmittersRCV000132084RCV000420354RCV000422710RCV000433401RCV000435205RCV000440576RCV000417987RCV000423376RCV000432346RCV000441079RCV000428641RCV000441725RCV000431054RCV000464261RCV000581940RCV000785336RCV001271055RCV001527088RCV001567943RCV003462031
NM_000546.6(TP53):c.994-1G>C SNV
Germline		 Chr17:7670716 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10580906 rs_587782272

5 SubmittersRCV000221716RCV000786812RCV000804263RCV002288878
NM_000546.6(TP53):c.797G>A (p.Gly266Glu) SNV
Germline/somatic		 Chr17:7673823 Pathogenic/Likely pathogenic Malignant tumor of prostate
Condition: not provided
Squamous cell carcinoma of the skin
Malignant melanoma of skin
Breast neoplasm
Small cell lung carcinoma
Hepatocellular carcinoma
Malignant neoplasm of body of uterus
Neoplasm of the large intestine
Squamous cell lung carcinoma
Neoplasm of brain
Uterine carcinosarcoma
Carcinoma of esophagus
B-cell chronic lymphocytic leukemia
Pancreatic adenocarcinoma
Lung adenocarcinoma
Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the head and neck
Glioblastoma
Transitional cell carcinoma of the bladder
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000421 rs_193920774

10 SubmittersRCV000149050RCV000255749RCV000422957RCV000423995RCV000433054RCV000434273RCV000441726RCV000444033RCV000418979RCV000444063RCV000424505RCV000429269RCV000429720RCV000436020RCV000440516RCV000445061RCV000418383RCV000421625RCV000430374RCV000431935RCV000492556RCV000709403RCV000785456RCV002288661
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) SNV
Germline/somatic		 Chr17:7670685 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1
12 conditions
Gallbladder cancer
Colonic diverticula
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000019 rs_730882029

17 SubmittersRCV000161074RCV000213069RCV000549233RCV000785301RCV002288707RCV002492644RCV001374440RCV001554321RCV003474838
NM_000546.6(TP53):c.736A>G (p.Met246Val) SNV
Germline/somatic		 Chr17:7674227 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000374 rs_483352695

7 SubmittersRCV000087173RCV000161036RCV000460370RCV000785556RCV002288585
NM_000546.6(TP53):c.375G>A (p.Thr125=) SNV
Germline		 Chr17:7675994 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer
Rhabdomyosarcoma
Glioma susceptibility 1
Malignant tumor of prostate
Li-Fraumeni syndrome 1
TP53-related disorder
Adrenocortical carcinoma, hereditary
Nephrogenic diabetes insipidus		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000144 rs_55863639

20 SubmittersRCV000154460RCV000218743RCV000483667RCV001271053RCV001257525RCV001530197RCV001527480RCV002288665RCV003398806RCV003462060RCV004525830
NM_000546.6(TP53):c.560-9T>A SNV
Germline		 Chr17:7674980 Conflicting classifications of pathogenicity Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA000269 rs_794727781

5 SubmittersRCV000179330RCV001046951RCV002288782RCV002288783
NM_000546.6(TP53):c.637C>T (p.Arg213Ter) SNV
Germline/somatic		 Chr17:7674894 Pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Condition: not provided
Neoplasm of ovary
Squamous cell carcinoma of the head and neck
Familial cancer of breast
Colorectal cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000301 rs_397516436

14 SubmittersRCV000036532RCV000115730RCV000144672RCV000213050RCV000785330RCV001270263RCV001270264RCV001270265
NM_000546.6(TP53):c.1010G>C (p.Arg337Pro) SNV
Germline		 Chr17:7670699 Likely pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000014 rs_121912664

5 SubmittersRCV000154527RCV001187412RCV002288666
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) SNV
Germline/somatic		 Chr17:7674241 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Condition: not provided
Gallbladder carcinoma
Papillary renal cell carcinoma type 1
Neoplasm of the large intestine
Non-Hodgkin lymphoma
Breast neoplasm
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Brainstem glioma
Malignant neoplasm of body of uterus
Carcinoma of esophagus
Glioblastoma
Neoplasm of brain
Lung adenocarcinoma
Papillary renal cell carcinoma, sporadic
Transitional cell carcinoma of the bladder
Squamous cell carcinoma of the skin
Uterine carcinosarcoma
Pancreatic adenocarcinoma
Malignant melanoma of skin
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000357 rs_28934573

8 SubmittersRCV000154419RCV000236210RCV000422573RCV000426195RCV000429339RCV000438488RCV000439590RCV000442616RCV000419417RCV000430604RCV000431373RCV000437089RCV000417965RCV000420364RCV000425780RCV000426900RCV000428236RCV000432564RCV000438178RCV000439098RCV000442642RCV000492778RCV000785321RCV002288664
NM_000546.6(TP53):c.586C>T (p.Arg196Ter) SNV
Germline/somatic		 Chr17:7674945 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Neoplasm of ovary
not specified
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000282 rs_397516435

18 SubmittersRCV000131510RCV000205265RCV000412710RCV000785329RCV001527464RCV002288535RCV003473274
NM_000546.6(TP53):c.1040C>A (p.Ala347Asp) SNV
Germline		 Chr17:7670669 Likely pathogenic not specified
Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Reviewed By Expert Panel
 CA000022 rs_397516434

7 SubmittersRCV000036529RCV000255021RCV000468537RCV000492626RCV003315555
NM_000546.6(TP53):c.481G>A (p.Ala161Thr) SNV
Germline/somatic		 Chr17:7675131 Pathogenic/Likely pathogenic Malignant tumor of prostate
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Neoplasm of ovary
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000234 rs_193920817

9 SubmittersRCV000149053RCV000161027RCV000214033RCV000473543RCV000761073RCV000785328RCV003474797
NM_000546.6(TP53):c.714T>G (p.Cys238Trp) SNV
Germline/somatic		 Chr17:7674249 Pathogenic/Likely pathogenic Malignant tumor of prostate
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000353 rs_193920789

3 SubmittersRCV000149049RCV000203823RCV002362784
NM_000546.6(TP53):c.783-4G>A SNV
Germline		 Chr17:7673841 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16615687 rs_1060504160

4 SubmittersRCV000468122RCV001181991
NM_000546.6(TP53):c.1025G>C (p.Arg342Pro) SNV
Germline/somatic		 Chr17:7670684 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Condition: not provided
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA337802 rs_375338359

7 SubmittersRCV000198319RCV000213216RCV000785264RCV001538204RCV002288808
NM_000546.6(TP53):c.973G>T (p.Gly325Ter) SNV
Germline		 Chr17:7673555 Pathogenic Li-Fraumeni syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA335679 rs_863224500

3 SubmittersRCV000195434RCV002286715RCV002372184
NM_000546.6(TP53):c.964C>T (p.Pro322Ser) SNV
Germline		 Chr17:7673564 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA336073 rs_863224687

3 SubmittersRCV000195973RCV000573146RCV002288818
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) SNV
Germline/somatic		 Chr17:7673781 Conflicting classifications of pathogenicity Malignant tumor of prostate
Malignant melanoma of skin
Small cell lung carcinoma
Nasopharyngeal neoplasm
Lung adenocarcinoma
Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the skin
Acute myeloid leukemia
Breast neoplasm
Hepatocellular carcinoma
Transitional cell carcinoma of the bladder
Squamous cell carcinoma of the head and neck
Neoplasm of uterine cervix
Gastric adenocarcinoma
Uterine carcinosarcoma
Carcinoma of esophagus
Neoplasm of brain
Squamous cell lung carcinoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA000447 rs_121912660

4 SubmittersRCV000149052RCV000417523RCV000426315RCV000435871RCV000437418RCV000419067RCV000438665RCV000419744RCV000438915RCV000425612RCV000421544RCV000442289RCV000427666RCV000429336RCV000445006RCV000434436RCV000428657RCV000434213RCV000633330RCV004019784
NM_000546.6(TP53):c.665C>T (p.Pro222Leu) SNV
Germline		 Chr17:7674866 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Squamous cell carcinoma of the head and neck
not specified
Breast and/or ovarian cancer
TP53-related disorder		 Criteria Provided
Conflicting Classifications
 CA000317 rs_146340390

15 SubmittersRCV000148907RCV000161032RCV000213056RCV000411498RCV000989715RCV001002287RCV001798464RCV003905279
NM_000546.6(TP53):c.919+5G>C SNV
Germline		 Chr17:7673696 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA338258 rs_766127339

2 SubmittersRCV000198875RCV000220008
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr) SNV
Germline/somatic		 Chr17:7673796 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Condition: not provided
Malignant melanoma of skin
Hepatocellular carcinoma
Breast neoplasm
Transitional cell carcinoma of the bladder
B-cell chronic lymphocytic leukemia
Adrenal cortex carcinoma
Glioblastoma
Multiple myeloma
Neoplasm of brain
Ovarian serous cystadenocarcinoma
Pancreatic adenocarcinoma
Squamous cell carcinoma of the head and neck
Papillary renal cell carcinoma type 1
Lung adenocarcinoma
Neoplasm of the large intestine
Carcinoma of esophagus
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Breast carcinoma
Li-Fraumeni syndrome 1
Acute myeloid leukemia
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA337141 rs_863224451

13 SubmittersRCV000197359RCV000235315RCV000418175RCV000424784RCV000433358RCV000427629RCV000439892RCV000442357RCV000443293RCV000422025RCV000422663RCV000439245RCV000423497RCV000429197RCV000434190RCV000435410RCV000438333RCV000442329RCV000568594RCV000785533RCV001610519RCV002288809RCV003320135RCV003468892
NM_000546.6(TP53):c.706T>C (p.Tyr236His) SNV
Germline		 Chr17:7674257 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA338059 rs_587782289

3 SubmittersRCV000198628RCV000492107RCV004020463
NM_000546.6(TP53):c.672+1G>A SNV
Germline		 Chr17:7674858 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339249 rs_863224499

8 SubmittersRCV000200333RCV000786828RCV002288813RCV002288814RCV003474954
NM_000546.6(TP53):c.787A>G (p.Asn263Asp) SNV
Germline		 Chr17:7673833 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA000419 rs_72661119

9 SubmittersRCV000132389RCV000679373RCV000474969RCV000663318
NM_000546.6(TP53):c.31G>C (p.Glu11Gln) SNV
Germline		 Chr17:7676564 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
not specified
Hereditary breast ovarian cancer syndrome
Li-Fraumeni syndrome 1
TP53-related disorder		 Criteria Provided
Conflicting Classifications
 CA000106 rs_201382018

15 SubmittersRCV000034640RCV000161016RCV000226569RCV000213044RCV001030742RCV001124310RCV003924896
NM_000546.6(TP53):c.701A>C (p.Tyr234Ser) SNV
Germline/somatic		 Chr17:7674262 Conflicting classifications of pathogenicity Carcinoma of esophagus
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Squamous cell lung carcinoma
Pancreatic adenocarcinoma
Glioblastoma
Squamous cell carcinoma of the head and neck
Adrenal cortex carcinoma
Breast neoplasm
Transitional cell carcinoma of the bladder
Neoplasm of the large intestine
Prostate adenocarcinoma
Small cell lung carcinoma
Hepatocellular carcinoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA16603103 rs_587780073

3 SubmittersRCV000421263RCV000421924RCV000423467RCV000427293RCV000430039RCV000430207RCV000431511RCV000433051RCV000437540RCV000439556RCV000440245RCV000444569RCV000443862RCV000444596RCV001025931RCV001341542
NM_000546.6(TP53):c.832C>A (p.Pro278Thr) SNV
Germline/somatic		 Chr17:7673788 Pathogenic/Likely pathogenic Lung adenocarcinoma
Malignant neoplasm of body of uterus
Multiple myeloma
Breast neoplasm
Ovarian serous cystadenocarcinoma
Squamous cell lung carcinoma
Malignant melanoma of skin
Neoplasm of brain
Carcinoma of esophagus
Neoplasm of the large intestine
Pancreatic adenocarcinoma
Squamous cell carcinoma of the head and neck
Poly (ADP-Ribose) polymerase inhibitor response
Neoplasm of ovary
Squamous cell carcinoma of the skin
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603060 rs_17849781

6 SubmittersRCV000419944RCV000418460RCV000429755RCV000425201RCV000425878RCV000429149RCV000433992RCV000436548RCV000437214RCV000435065RCV000442861RCV000440415RCV000626445RCV000785511RCV000442983RCV002429348RCV002524698RCV004022234
NM_000546.6(TP53):c.833C>G (p.Pro278Arg) SNV
Germline/somatic		 Chr17:7673787 Conflicting classifications of pathogenicity Neoplasm of the large intestine
Squamous cell lung carcinoma
Carcinoma of esophagus
Malignant neoplasm of body of uterus
Lung adenocarcinoma
Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the skin
Pancreatic adenocarcinoma
Malignant melanoma of skin
Neoplasm of brain
Multiple myeloma
Squamous cell carcinoma of the head and neck
Breast neoplasm
Hereditary cancer-predisposing syndrome
Condition: not provided
Neoplasm of ovary
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16603061 rs_876659802

7 SubmittersRCV000420956RCV000424036RCV000423863RCV000431661RCV000431945RCV000425930RCV000426582RCV000431305RCV000441126RCV000432244RCV000444083RCV000443337RCV000443990RCV000572417RCV000681956RCV000785498RCV000797363RCV002289530
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) SNV
Germline/somatic		 Chr17:7673788 Conflicting classifications of pathogenicity Squamous cell carcinoma of the skin
Pancreatic adenocarcinoma
Neoplasm of brain
Squamous cell lung carcinoma
Carcinoma of esophagus
Squamous cell carcinoma of the head and neck
Malignant melanoma of skin
Ovarian serous cystadenocarcinoma
Multiple myeloma
Malignant neoplasm of body of uterus
Neoplasm of the large intestine
Lung adenocarcinoma
Hereditary cancer-predisposing syndrome
Breast neoplasm
Li-Fraumeni syndrome
Neoplasm of ovary
Condition: not provided
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16603062 rs_17849781

6 SubmittersRCV000419216RCV000417926RCV000420739RCV000422309RCV000426460RCV000427997RCV000430547RCV000433017RCV000437350RCV000438674RCV000439356RCV000437992RCV000567850RCV000441270RCV000688854RCV000785477RCV001584114RCV004022235
NM_000546.6(TP53):c.706T>A (p.Tyr236Asn) SNV
Germline/somatic		 Chr17:7674257 Conflicting classifications of pathogenicity Squamous cell carcinoma of the head and neck
Neoplasm of the large intestine
Gastric adenocarcinoma
Squamous cell lung carcinoma
Lung adenocarcinoma
Prostate adenocarcinoma
Pancreatic adenocarcinoma
Squamous cell carcinoma of the skin
Neoplasm of brain
Ovarian serous cystadenocarcinoma
Breast neoplasm
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16040589 rs_587782289

5 SubmittersRCV000421176RCV000422301RCV000426248RCV000431852RCV000432981RCV000438025RCV000444573RCV000444665RCV000443891RCV000427088RCV000439518RCV000463978RCV000566931RCV002289545
NM_000546.6(TP53):c.707A>G (p.Tyr236Cys) SNV
Germline/somatic		 Chr17:7674256 Conflicting classifications of pathogenicity Prostate adenocarcinoma
Neoplasm of brain
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the head and neck
Squamous cell lung carcinoma
Lung adenocarcinoma
Squamous cell carcinoma of the skin
Pancreatic adenocarcinoma
Neoplasm of the large intestine
Breast neoplasm
Neoplasm of ovary
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16603106 rs_730882026

8 SubmittersRCV000419208RCV000420300RCV000423298RCV000425130RCV000428749RCV000430980RCV000429935RCV000437595RCV000438183RCV000440629RCV000444464RCV000785279RCV001559774RCV002365462RCV001201781RCV004022256
NM_000546.6(TP53):c.833C>A (p.Pro278His) SNV
Germline/somatic		 Chr17:7673787 Conflicting classifications of pathogenicity Neoplasm of brain
Squamous cell lung carcinoma
Pancreatic adenocarcinoma
Carcinoma of esophagus
Malignant melanoma of skin
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the skin
Lung adenocarcinoma
Multiple myeloma
Neoplasm of the large intestine
Li-Fraumeni syndrome
Breast neoplasm
Malignant neoplasm of body of uterus
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 CA16603063 rs_876659802

6 SubmittersRCV000417607RCV000424797RCV000420265RCV000426301RCV000422133RCV000443564RCV000433513RCV000433712RCV000435517RCV000427682RCV000428293RCV000633329RCV000437485RCV000444453RCV001017582RCV002289531RCV004567903
NM_000546.6(TP53):c.700T>A (p.Tyr234Asn) SNV
Germline/somatic		 Chr17:7674263 Pathogenic Breast neoplasm
Adrenal cortex carcinoma
Transitional cell carcinoma of the bladder
Carcinoma of esophagus
Pancreatic adenocarcinoma
Prostate adenocarcinoma
Squamous cell lung carcinoma
Hepatocellular carcinoma
Glioblastoma
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Gastric adenocarcinoma
Small cell lung carcinoma
Neoplasm of the large intestine
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603105 rs_864622237

3 SubmittersRCV000417830RCV000418444RCV000423653RCV000428072RCV000426109RCV000426512RCV000426723RCV000433276RCV000434769RCV000436114RCV000436336RCV000439167RCV000444101RCV000444893RCV000809457RCV001025925
NM_000546.6(TP53):c.700T>C (p.Tyr234His) SNV
Germline/somatic		 Chr17:7674263 Pathogenic/Likely pathogenic Gastric adenocarcinoma
Small cell lung carcinoma
Hepatocellular carcinoma
Ovarian serous cystadenocarcinoma
Glioblastoma
Adrenal cortex carcinoma
Transitional cell carcinoma of the bladder
Carcinoma of esophagus
Prostate adenocarcinoma
Pancreatic adenocarcinoma
Breast neoplasm
Neoplasm of the large intestine
Squamous cell lung carcinoma
Hereditary cancer-predisposing syndrome
Squamous cell carcinoma of the head and neck
Li-Fraumeni syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603104 rs_864622237

6 SubmittersRCV000418604RCV000418790RCV000419222RCV000421640RCV000427499RCV000426894RCV000428839RCV000428164RCV000431867RCV000436907RCV000438411RCV000439967RCV000441352RCV000492782RCV000437128RCV000530551RCV000785304RCV002289544
NM_000546.6(TP53):c.91G>A (p.Val31Ile) SNV
Germline		 Chr17:7676387 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary breast ovarian cancer syndrome
Condition: not provided
Breast and/or ovarian cancer
TP53-related disorder		 Criteria Provided
Conflicting Classifications
 CA357868 rs_201753350

16 SubmittersRCV000115742RCV000122173RCV000123100RCV000409871RCV001030741RCV000586196RCV003492490RCV003945046
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr) SNV
Germline/somatic		 Chr17:7675208 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Carcinoma of esophagus
Transitional cell carcinoma of the bladder
Gastric adenocarcinoma
Hepatocellular carcinoma
Pancreatic adenocarcinoma
Prostate adenocarcinoma
Ovarian serous cystadenocarcinoma
Breast neoplasm
Squamous cell lung carcinoma
Lung adenocarcinoma
Condition: not provided
Adrenal cortex carcinoma
Neoplasm of the large intestine
Neoplasm of brain
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA000160 rs_587781991

7 SubmittersRCV000130396RCV000419337RCV000421166RCV000429447RCV000431855RCV000419825RCV000422242RCV000430048RCV000437052RCV000438381RCV000439440RCV000581322RCV000423651RCV000428748RCV000444676RCV001069143RCV004019738
NM_000546.6(TP53):c.832C>T (p.Pro278Ser) SNV
Germline/somatic		 Chr17:7673788 Pathogenic/Likely pathogenic Squamous cell carcinoma of the skin
Squamous cell carcinoma of the head and neck
Malignant melanoma of skin
Lung adenocarcinoma
Carcinoma of esophagus
Malignant neoplasm of body of uterus
Ovarian serous cystadenocarcinoma
Neoplasm of brain
Squamous cell lung carcinoma
Multiple myeloma
Breast neoplasm
Neoplasm of the large intestine
Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Pancreatic adenocarcinoma
Neoplasm of ovary
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603059 rs_17849781

7 SubmittersRCV000421997RCV000426679RCV000427094RCV000427714RCV000432977RCV000433428RCV000437941RCV000432228RCV000442821RCV000443572RCV000435645RCV000444293RCV000522600RCV000633344RCV000562528RCV000439725RCV000785527RCV004022233
NM_000546.6(TP53):c.423C>G (p.Cys141Trp) SNV
Germline/somatic		 Chr17:7675189 Pathogenic/Likely pathogenic Acute myeloid leukemia
Multiple myeloma
Squamous cell lung carcinoma
Neoplasm of the large intestine
Breast neoplasm
Malignant neoplasm of body of uterus
Pancreatic adenocarcinoma
Prostate adenocarcinoma
Papillary renal cell carcinoma type 1
Neoplasm of brain
Lung adenocarcinoma
Hereditary cancer-predisposing syndrome
Squamous cell carcinoma of the head and neck
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16602990 rs_1057519977

3 SubmittersRCV000425931RCV000423924RCV000424802RCV000422816RCV000430241RCV000434169RCV000431589RCV000434797RCV000445034RCV000440499RCV000442353RCV000492201RCV000444942RCV000467641
NM_000546.6(TP53):c.658T>G (p.Tyr220Asp) SNV
Germline/somatic		 Chr17:7674873 Conflicting classifications of pathogenicity Breast neoplasm
Neoplasm of the large intestine
Malignant melanoma of skin
Transitional cell carcinoma of the bladder
Ovarian serous cystadenocarcinoma
Small cell lung carcinoma
Hepatocellular carcinoma
Uterine carcinosarcoma
Gastric adenocarcinoma
Papillary renal cell carcinoma, sporadic
Papillary renal cell carcinoma type 1
Pancreatic adenocarcinoma
Neoplasm of brain
Squamous cell carcinoma of the head and neck
Malignant neoplasm of body of uterus
Prostate adenocarcinoma
Lung adenocarcinoma
Li-Fraumeni syndrome
Squamous cell lung carcinoma
Glioblastoma
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16603102 rs_530941076

3 SubmittersRCV000417982RCV000418575RCV000418779RCV000422783RCV000427506RCV000426793RCV000428144RCV000431034RCV000430837RCV000433449RCV000434918RCV000436457RCV000437034RCV000441127RCV000440413RCV000444915RCV000444073RCV001851023RCV000424311RCV000425315RCV004022255
NM_000546.6(TP53):c.658T>A (p.Tyr220Asn) SNV
Germline/somatic		 Chr17:7674873 Conflicting classifications of pathogenicity Squamous cell carcinoma of the head and neck
Glioblastoma
Small cell lung carcinoma
Lung adenocarcinoma
Breast neoplasm
Neoplasm of brain
Neoplasm of the large intestine
Uterine carcinosarcoma
Malignant melanoma of skin
Ovarian serous cystadenocarcinoma
Pancreatic adenocarcinoma
Transitional cell carcinoma of the bladder
Papillary renal cell carcinoma, sporadic
Malignant neoplasm of body of uterus
Hepatocellular carcinoma
Li-Fraumeni syndrome
Condition: not provided
Prostate adenocarcinoma
Squamous cell lung carcinoma
Gastric adenocarcinoma
Li-Fraumeni syndrome 1
Papillary renal cell carcinoma type 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16603101 rs_530941076

5 SubmittersRCV000419702RCV000424584RCV000423767RCV000426310RCV000429130RCV000427847RCV000429300RCV000432093RCV000434035RCV000434427RCV000437403RCV000438679RCV000438838RCV000439357RCV000443812RCV001313857RCV001575028RCV000419021RCV000419523RCV000421037RCV004022254RCV000438068RCV000570507
NM_000546.6(TP53):c.523C>G (p.Arg175Gly) SNV
Germline/somatic		 Chr17:7675089 Pathogenic/Likely pathogenic Malignant neoplasm of body of uterus
Neoplasm of the large intestine
Brainstem glioma
Hepatocellular carcinoma
Ovarian serous cystadenocarcinoma
Nasopharyngeal neoplasm
Transitional cell carcinoma of the bladder
Carcinoma of esophagus
Breast neoplasm
Pancreatic adenocarcinoma
Glioblastoma
Neoplasm of brain
Lung adenocarcinoma
Squamous cell lung carcinoma
Squamous cell carcinoma of the head and neck
Medulloblastoma
Prostate adenocarcinoma
Malignant melanoma of skin
Gastric adenocarcinoma
B-cell chronic lymphocytic leukemia
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Uterine carcinosarcoma
Gallbladder carcinoma
Condition: not provided
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603066 rs_138729528

7 SubmittersRCV000420706RCV000419625RCV000421238RCV000421436RCV000426938RCV000424235RCV000420923RCV000425355RCV000430584RCV000428548RCV000432831RCV000436759RCV000430740RCV000430935RCV000436078RCV000438570RCV000437498RCV000441260RCV000432105RCV000444111RCV000459914RCV000573315RCV000785486RCV000443278RCV000444080RCV001584115RCV002289532
NM_000546.6(TP53):c.638G>T (p.Arg213Leu) SNV
Germline/somatic		 Chr17:7674893 Conflicting classifications of pathogenicity Adrenal cortex carcinoma
Malignant melanoma of skin
Uterine carcinosarcoma
Neoplasm of brain
Neoplasm of the large intestine
Hepatocellular carcinoma
Papillary renal cell carcinoma type 1
Breast neoplasm
Carcinoma of esophagus
Glioblastoma
Pancreatic adenocarcinoma
Squamous cell carcinoma of the head and neck
Transitional cell carcinoma of the bladder
Squamous cell lung carcinoma
Gastric adenocarcinoma
Squamous cell carcinoma of the skin
Adenoid cystic carcinoma
Prostate adenocarcinoma
Lung adenocarcinoma
Nasopharyngeal neoplasm
Ovarian serous cystadenocarcinoma
Malignant neoplasm of body of uterus
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16603067 rs_587778720

3 SubmittersRCV000417467RCV000418814RCV000418608RCV000421737RCV000422458RCV000422684RCV000428488RCV000428624RCV000428841RCV000427240RCV000427500RCV000433789RCV000432738RCV000435387RCV000435132RCV000437481RCV000438469RCV000439587RCV000439979RCV000443648RCV000444469RCV000445195RCV001371092RCV004022236
NM_000546.6(TP53):c.658T>C (p.Tyr220His) SNV
Germline/somatic		 Chr17:7674873 Pathogenic/Likely pathogenic Breast neoplasm
Ovarian serous cystadenocarcinoma
Glioblastoma
Prostate adenocarcinoma
Hepatocellular carcinoma
Malignant melanoma of skin
Papillary renal cell carcinoma, sporadic
Squamous cell carcinoma of the head and neck
Squamous cell lung carcinoma
Transitional cell carcinoma of the bladder
Small cell lung carcinoma
Neoplasm of brain
Papillary renal cell carcinoma type 1
Neoplasm of the large intestine
Lung adenocarcinoma
Uterine carcinosarcoma
Pancreatic adenocarcinoma
Gastric adenocarcinoma
Malignant neoplasm of body of uterus
Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA002135 rs_530941076

7 SubmittersRCV000417798RCV000420004RCV000420142RCV000422371RCV000422197RCV000425148RCV000435010RCV000430823RCV000431992RCV000429815RCV000438238RCV000431076RCV000436002RCV000433089RCV000444451RCV000444634RCV000439425RCV000440468RCV000440668RCV000785254RCV000566866RCV001215103RCV004022253RCV003476013
NM_000546.6(TP53):c.1120G>A (p.Gly374Ser) SNV
Germline		 Chr17:7669671 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 CA000040 rs_587781858

4 SubmittersRCV000130166RCV001313040RCV003474760
NM_000546.6(TP53):c.125A>G (p.Asp42Gly) SNV
Germline		 Chr17:7676244 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA000052 rs_587781767

3 SubmittersRCV000129995RCV002288633
NM_000546.6(TP53):c.920-1G>A SNV
Germline/somatic		 Chr17:7673609 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Neoplasm of ovary
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000499 rs_587781702

7 SubmittersRCV000129871RCV000421521RCV000785548RCV001235868RCV002288632
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) SNV
Germline/somatic		 Chr17:7673821 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
11 conditions
Lip and oral cavity carcinoma
Familial cancer of breast
Li-Fraumeni syndrome 1
Breast and/or ovarian cancer
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000423 rs_55832599

17 SubmittersRCV000130398RCV000413074RCV000538977RCV000763416RCV001255676RCV002247507RCV002288637RCV003149899RCV003460927
NM_000546.6(TP53):c.733G>T (p.Gly245Cys) SNV
Germline/somatic		 Chr17:7674230 Pathogenic Li-Fraumeni syndrome 1
Condition: not provided
Uterine carcinosarcoma
Transitional cell carcinoma of the bladder
Prostate adenocarcinoma
Breast neoplasm
Squamous cell carcinoma of the head and neck
Carcinoma of esophagus
Glioblastoma
Hepatocellular carcinoma
Pancreatic adenocarcinoma
Hereditary cancer-predisposing syndrome
Neoplasm of brain
Lung adenocarcinoma
Neoplasm of the large intestine
Ovarian serous cystadenocarcinoma
Gastric adenocarcinoma
Squamous cell lung carcinoma
Li-Fraumeni syndrome
Brainstem glioma
Breast and/or ovarian cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000369 rs_28934575

8 SubmittersRCV000013142RCV000161025RCV000417593RCV000426090RCV000430002RCV000419737RCV000436186RCV000440197RCV000425471RCV000441334RCV000428895RCV000492412RCV000440886RCV000418673RCV000443435RCV000423577RCV000424262RCV000436330RCV000633397RCV000434535RCV001271056
NM_000546.6(TP53):c.396G>C (p.Lys132Asn) SNV
Germline/somatic		 Chr17:7675216 Likely pathogenic Lung adenocarcinoma
Multiple myeloma
Breast neoplasm
Squamous cell carcinoma of the head and neck
Neoplasm of the large intestine
Uterine carcinosarcoma
Squamous cell lung carcinoma
Transitional cell carcinoma of the bladder
Ovarian serous cystadenocarcinoma
Pancreatic adenocarcinoma
Adrenal cortex carcinoma
Carcinoma of esophagus
Glioblastoma
Gastric adenocarcinoma
Neoplasm of brain
Neoplasm of uterine cervix
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Reviewed By Expert Panel
 CA16603044 rs_866775781

5 SubmittersRCV000419339RCV000422634RCV000421516RCV000424592RCV000427056RCV000430184RCV000430063RCV000432417RCV000434424RCV000432219RCV000437720RCV000439586RCV000439834RCV000440843RCV000442346RCV000442734RCV000709407RCV004022223
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) SNV
Germline/somatic		 Chr17:7675217 Pathogenic/Likely pathogenic Neoplasm of brain
Transitional cell carcinoma of the bladder
Multiple myeloma
Adrenal cortex carcinoma
Uterine carcinosarcoma
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Breast neoplasm
Squamous cell carcinoma of the head and neck
Neoplasm of uterine cervix
Carcinoma of esophagus
Pancreatic adenocarcinoma
Lung adenocarcinoma
Glioblastoma
Li-Fraumeni syndrome
Neoplasm of the large intestine
Squamous cell lung carcinoma
Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603045 rs_1057519996

6 SubmittersRCV000419418RCV000421674RCV000423130RCV000418417RCV000424246RCV000419619RCV000429087RCV000428190RCV000426827RCV000429251RCV000434074RCV000438897RCV000436453RCV000443007RCV000471183RCV000436660RCV000441520RCV000785521RCV002356517RCV004022224
NM_000546.6(TP53):c.394A>G (p.Lys132Glu) SNV
Germline/somatic		 Chr17:7675218 Conflicting classifications of pathogenicity Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the head and neck
Neoplasm of the large intestine
Multiple myeloma
Breast neoplasm
Transitional cell carcinoma of the bladder
Uterine carcinosarcoma
Pancreatic adenocarcinoma
Neoplasm of uterine cervix
Neoplasm of brain
Carcinoma of esophagus
Adrenal cortex carcinoma
Lung adenocarcinoma
Squamous cell lung carcinoma
Glioblastoma
Gastric adenocarcinoma
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA002647 rs_747342068

7 SubmittersRCV000417803RCV000417874RCV000423644RCV000425237RCV000426379RCV000430828RCV000428580RCV000431096RCV000433855RCV000436180RCV000434893RCV000435981RCV000440656RCV000441816RCV000442199RCV000444903RCV000468362RCV000562533RCV001253548RCV004017609
NM_000546.6(TP53):c.395A>C (p.Lys132Thr) SNV
Germline/somatic		 Chr17:7675217 Conflicting classifications of pathogenicity Uterine carcinosarcoma
Glioblastoma
Neoplasm of the large intestine
Neoplasm of uterine cervix
Transitional cell carcinoma of the bladder
Multiple myeloma
Breast neoplasm
Carcinoma of esophagus
Gastric adenocarcinoma
Squamous cell lung carcinoma
Pancreatic adenocarcinoma
Lung adenocarcinoma
Neoplasm of brain
Adrenal cortex carcinoma
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA16603046 rs_1057519996

3 SubmittersRCV000420694RCV000419605RCV000423393RCV000422403RCV000424547RCV000425633RCV000427017RCV000430299RCV000433243RCV000433123RCV000435461RCV000437675RCV000437910RCV000443063RCV000442106RCV000442467RCV004022225RCV003621532
NM_000546.6(TP53):c.-11G>A SNV
Germline		 Chr17:7676605 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Familial cancer of breast
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA004011 rs_773666793

4 SubmittersRCV000433273RCV001176466RCV001198687RCV004000417
NM_000546.6(TP53):c.859G>A (p.Glu287Lys) SNV
Germline		 Chr17:7673761 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA000466 rs_587782006

3 SubmittersRCV000130426RCV000813960RCV002288638
NM_000546.6(TP53):c.394A>C (p.Lys132Gln) SNV
Germline/somatic		 Chr17:7675218 Conflicting classifications of pathogenicity Adrenal cortex carcinoma
Gastric adenocarcinoma
Neoplasm of uterine cervix
Carcinoma of esophagus
Squamous cell lung carcinoma
Transitional cell carcinoma of the bladder
Ovarian serous cystadenocarcinoma
Uterine carcinosarcoma
Neoplasm of brain
Breast neoplasm
Glioblastoma
Lung adenocarcinoma
Pancreatic adenocarcinoma
Squamous cell carcinoma of the head and neck
Neoplasm of the large intestine
Multiple myeloma
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16603047 rs_747342068

4 SubmittersRCV000419400RCV000421029RCV000419226RCV000422568RCV000427319RCV000427528RCV000429238RCV000432840RCV000432114RCV000434062RCV000436873RCV000438684RCV000440130RCV000439934RCV000442713RCV000442639RCV001205860RCV003463827RCV004022226
NM_000546.6(TP53):c.332T>C (p.Leu111Pro) SNV
Germline/somatic		 Chr17:7676037 Conflicting classifications of pathogenicity Glioblastoma
Carcinoma of esophagus
Breast neoplasm
B-cell chronic lymphocytic leukemia
Hepatocellular carcinoma
Malignant melanoma of skin
Gastric adenocarcinoma
Squamous cell lung carcinoma
Li-Fraumeni syndrome
Neoplasm of ovary
Condition: not provided
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16603049 rs_1057519997

5 SubmittersRCV000417617RCV000425579RCV000428739RCV000425862RCV000435274RCV000435918RCV000441916RCV000442239RCV000459042RCV000785496RCV000480700RCV004022227
NM_000546.6(TP53):c.332T>A (p.Leu111Gln) SNV
Germline/somatic		 Chr17:7676037 Conflicting classifications of pathogenicity Squamous cell lung carcinoma
Gastric adenocarcinoma
Malignant melanoma of skin
Hepatocellular carcinoma
Breast neoplasm
Carcinoma of esophagus
Glioblastoma
B-cell chronic lymphocytic leukemia
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16603051 rs_1057519997

3 SubmittersRCV000421931RCV000424730RCV000433045RCV000433598RCV000434970RCV000442091RCV000442462RCV000443054RCV001041362RCV004022228
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp) SNV
Germline/somatic		 Chr17:7674918 Conflicting classifications of pathogenicity Lung adenocarcinoma
Pancreatic adenocarcinoma
Non-Hodgkin lymphoma
Multiple myeloma
Papillary renal cell carcinoma type 1
Breast neoplasm
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Uterine carcinosarcoma
Hepatocellular carcinoma
Malignant neoplasm of body of uterus
Neoplasm of brain
Squamous cell lung carcinoma
Neoplasm of the large intestine
Carcinoma of esophagus
Glioblastoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA16603100 rs_1057520008

5 SubmittersRCV000421137RCV000419128RCV000423676RCV000421350RCV000426948RCV000428535RCV000428939RCV000430021RCV000434351RCV000434446RCV000438356RCV000436740RCV000439865RCV000439629RCV000444122RCV000444873RCV000462351RCV000663307RCV003441853
NM_000546.6(TP53):c.581T>A (p.Leu194His) SNV
Germline/somatic		 Chr17:7674950 Conflicting classifications of pathogenicity Ovarian serous cystadenocarcinoma
Breast neoplasm
Squamous cell carcinoma of the head and neck
Hepatocellular carcinoma
Glioblastoma
Neoplasm of uterine cervix
Neoplasm of the large intestine
Neoplasm of brain
Transitional cell carcinoma of the bladder
Pancreatic adenocarcinoma
Lung adenocarcinoma
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16603052 rs_1057519998

5 SubmittersRCV000421586RCV000426499RCV000422209RCV000427064RCV000431615RCV000431831RCV000436747RCV000434795RCV000443531RCV000442619RCV000443173RCV000565549RCV000785543RCV001376885RCV004022230
NM_000546.6(TP53):c.993+1G>C SNV
Germline/somatic		 Chr17:7673534 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16607519 rs_11575997

5 SubmittersRCV000429174RCV002289557RCV000799825RCV002289556
NM_000546.6(TP53):c.737T>G (p.Met246Arg) SNV
Germline		 Chr17:7674226 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA000376 rs_587780074

3 SubmittersRCV000115734RCV002381420RCV001344441
NM_000546.6(TP53):c.710T>A (p.Met237Lys) SNV
Germline/somatic		 Chr17:7674253 Pathogenic/Likely pathogenic Squamous cell lung carcinoma
Malignant neoplasm of body of uterus
Squamous cell carcinoma of the head and neck
Gastric adenocarcinoma
Pancreatic adenocarcinoma
Neoplasm of brain
Lung adenocarcinoma
Breast neoplasm
Brainstem glioma
Carcinoma of esophagus
Ovarian serous cystadenocarcinoma
Neoplasm of the large intestine
Acute myeloid leukemia
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA001811 rs_765848205

4 SubmittersRCV000420529RCV000422293RCV000424589RCV000427086RCV000429783RCV000432913RCV000435309RCV000436968RCV000437739RCV000442354RCV000442966RCV000443369RCV002509381RCV002524697RCV004022231
NM_000546.6(TP53):c.716A>G (p.Asn239Ser) SNV
Germline/somatic		 Chr17:7674247 Likely pathogenic Lung adenocarcinoma
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Uterine carcinosarcoma
Prostate adenocarcinoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Neoplasm of the large intestine
Papillary renal cell carcinoma type 1
Malignant neoplasm of body of uterus
Breast neoplasm
Gastric adenocarcinoma
Hepatocellular carcinoma
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603054 rs_1057519999

6 SubmittersRCV000427640RCV000429581RCV000436108RCV000437044RCV000442626RCV000567507RCV001851021RCV002510885RCV000418854RCV000420011RCV000426368RCV000428926RCV000438332RCV000438482RCV002289529
NM_000546.6(TP53):c.716A>C (p.Asn239Thr) SNV
Germline/somatic		 Chr17:7674247 Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1
Neoplasm of the large intestine
Lung adenocarcinoma
Squamous cell carcinoma of the head and neck
Uterine carcinosarcoma
Prostate adenocarcinoma
Ovarian serous cystadenocarcinoma
Gastric adenocarcinoma
Breast neoplasm
Malignant neoplasm of body of uterus
Hepatocellular carcinoma
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16603055 rs_1057519999

3 SubmittersRCV000420547RCV000417510RCV000418162RCV000424579RCV000425771RCV000430564RCV000436479RCV000435297RCV000431205RCV000441278RCV000442232RCV000633336RCV002374626
NM_000546.6(TP53):c.452C>G (p.Pro151Arg) SNV
Germline/somatic		 Chr17:7675160 Pathogenic/Likely pathogenic Pancreatic adenocarcinoma
Transitional cell carcinoma of the bladder
Neoplasm of the large intestine
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Gastric adenocarcinoma
Hepatocellular carcinoma
Multiple myeloma
Neoplasm of brain
Uterine carcinosarcoma
Malignant melanoma of skin
Malignant neoplasm of body of uterus
Squamous cell lung carcinoma
Lung adenocarcinoma
Adenoid cystic carcinoma
Carcinoma of esophagus
Breast neoplasm
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603057 rs_1057520000

4 SubmittersRCV000418846RCV000419325RCV000419958RCV000421526RCV000424514RCV000425600RCV000423715RCV000430235RCV000431352RCV000435893RCV000434196RCV000435439RCV000436541RCV000439174RCV000441608RCV000440477RCV000443101RCV000633382RCV003168617RCV004022232
NM_000546.6(TP53):c.*6T>A SNV
Germline		 Chr17:7669603 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA000667 rs_369567704

5 SubmittersRCV000586669RCV001177928RCV004000438
NM_000546.6(TP53):c.451C>G (p.Pro151Ala) SNV
Germline/somatic		 Chr17:7675161 Pathogenic Breast neoplasm
Uterine carcinosarcoma
Neoplasm of the large intestine
Neoplasm of brain
Squamous cell carcinoma of the head and neck
Multiple myeloma
Hepatocellular carcinoma
Squamous cell lung carcinoma
Adenoid cystic carcinoma
Pancreatic adenocarcinoma
Malignant neoplasm of body of uterus
Ovarian serous cystadenocarcinoma
Malignant melanoma of skin
Carcinoma of esophagus
Transitional cell carcinoma of the bladder
Lung adenocarcinoma
Gastric adenocarcinoma
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603058 rs_28934874

3 SubmittersRCV000418125RCV000419693RCV000420971RCV000420838RCV000425371RCV000428371RCV000426064RCV000426471RCV000431059RCV000432886RCV000431789RCV000436762RCV000437396RCV000438632RCV000441351RCV000443299RCV000443386RCV000459465RCV002338981
NM_000546.6(TP53):c.605G>A (p.Arg202His) SNV
Germline		 Chr17:7674926 Conflicting classifications of pathogenicity not specified
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA000289 rs_587778719

7 SubmittersRCV000122175RCV000459232RCV000567735RCV001030735RCV001358628
NM_000546.6(TP53):c.358A>G (p.Lys120Glu) SNV
Germline/somatic		 Chr17:7676011 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA000130 rs_121912658

5 SubmittersRCV000129457RCV000213049RCV000696142RCV000785522RCV004019730
NM_000546.6(TP53):c.487T>A (p.Tyr163Asn) SNV
Germline/somatic		 Chr17:7675125 Conflicting classifications of pathogenicity Hepatocellular carcinoma
Uterine carcinosarcoma
Neoplasm of the large intestine
Ovarian serous cystadenocarcinoma
Lung adenocarcinoma
Breast neoplasm
Squamous cell carcinoma of the head and neck
Carcinoma of esophagus
Squamous cell lung carcinoma
Brainstem glioma
Pancreatic adenocarcinoma
Neoplasm of brain
Malignant melanoma of skin
Li-Fraumeni syndrome
Small cell lung carcinoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16603093 rs_786203436

4 SubmittersRCV000421406RCV000427021RCV000424159RCV000426404RCV000437297RCV000439053RCV000443298RCV000428833RCV000439742RCV000443877RCV000422095RCV000434430RCV000431660RCV000633347RCV000444003RCV002338982RCV004022250
NM_000546.6(TP53):c.821T>C (p.Val274Ala) SNV
Germline/somatic		 Chr17:7673799 Conflicting classifications of pathogenicity Malignant melanoma of skin
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Neoplasm of the large intestine
Prostate adenocarcinoma
Lung adenocarcinoma
Neoplasm of brain
Small cell lung carcinoma
Gastric adenocarcinoma
Pancreatic adenocarcinoma
Breast neoplasm
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16603091 rs_1057520006

3 SubmittersRCV000420150RCV000421817RCV000426067RCV000427353RCV000426772RCV000432482RCV000433292RCV000437438RCV000438006RCV000443517RCV000444136RCV001056029RCV002429350
NM_000546.6(TP53):c.645T>G (p.Ser215Arg) SNV
Germline/somatic		 Chr17:7674886 Conflicting classifications of pathogenicity Breast neoplasm
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Pancreatic adenocarcinoma
Small cell lung carcinoma
Lung adenocarcinoma
Acute myeloid leukemia
Li-Fraumeni syndrome
Hepatocellular carcinoma
Carcinoma of esophagus
Li-Fraumeni syndrome 1
Neoplasm of ovary
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16603076 rs_1057520001

6 SubmittersRCV000422178RCV000421044RCV000425174RCV000431745RCV000432876RCV000442691RCV000442610RCV000465501RCV000437603RCV000439391RCV000662560RCV000785463RCV002289537
NM_000546.6(TP53):c.644G>A (p.Ser215Asn) SNV
Germline/somatic		 Chr17:7674887 Conflicting classifications of pathogenicity Hepatocellular carcinoma
Pancreatic adenocarcinoma
Acute myeloid leukemia
Ovarian serous cystadenocarcinoma
Carcinoma of esophagus
Breast neoplasm
Small cell lung carcinoma
Lung adenocarcinoma
Gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16603077 rs_587782177

5 SubmittersRCV000422423RCV000421424RCV000423774RCV000427974RCV000432107RCV000434496RCV000438643RCV000442434RCV000443221RCV000492171RCV000816006RCV003476011RCV004022241
NM_000546.6(TP53):c.722C>A (p.Ser241Tyr) SNV
Germline/somatic		 Chr17:7674241 Pathogenic/Likely pathogenic Carcinoma of esophagus
Glioblastoma
Uterine carcinosarcoma
Malignant neoplasm of body of uterus
Pancreatic adenocarcinoma
Squamous cell carcinoma of the skin
Neoplasm of brain
Squamous cell carcinoma of the head and neck
Malignant melanoma of skin
Lung adenocarcinoma
Ovarian serous cystadenocarcinoma
Breast neoplasm
Papillary renal cell carcinoma, sporadic
Non-Hodgkin lymphoma
Papillary renal cell carcinoma type 1
Neoplasm of the large intestine
Brainstem glioma
Gallbladder carcinoma
Transitional cell carcinoma of the bladder
Neoplasm of ovary
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603078 rs_28934573

6 SubmittersRCV000418625RCV000419713RCV000420813RCV000421131RCV000426095RCV000424972RCV000430014RCV000423572RCV000425344RCV000430987RCV000432092RCV000436296RCV000437363RCV000431755RCV000441902RCV000438864RCV000440216RCV000441261RCV000441922RCV000785454RCV001053974RCV001576591RCV002289538RCV002289539
NM_000546.6(TP53):c.721T>G (p.Ser241Ala) SNV
Germline/somatic		 Chr17:7674242 Conflicting classifications of pathogenicity Carcinoma of esophagus
Neoplasm of the large intestine
Neoplasm of brain
Uterine carcinosarcoma
Gallbladder carcinoma
Non-Hodgkin lymphoma
Malignant melanoma of skin
Brainstem glioma
Malignant neoplasm of body of uterus
Breast neoplasm
Glioblastoma
Papillary renal cell carcinoma type 1
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Pancreatic adenocarcinoma
Papillary renal cell carcinoma, sporadic
Squamous cell carcinoma of the skin
Lung adenocarcinoma
Transitional cell carcinoma of the bladder
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16603080 rs_1057520002

5 SubmittersRCV000418366RCV000419457RCV000422775RCV000420564RCV000423557RCV000425684RCV000424609RCV000426866RCV000429686RCV000432077RCV000434790RCV000434877RCV000437125RCV000435947RCV000440449RCV000441961RCV000441702RCV000441931RCV000443160RCV001045859RCV002374627RCV004022242
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) SNV
Germline/somatic		 Chr17:7675190 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Pancreatic adenocarcinoma
Breast neoplasm
Neoplasm of brain
Multiple myeloma
Squamous cell lung carcinoma
Malignant neoplasm of body of uterus
Lung adenocarcinoma
Prostate adenocarcinoma
Acute myeloid leukemia
Squamous cell carcinoma of the head and neck
Papillary renal cell carcinoma type 1
Neoplasm of the large intestine
Li-Fraumeni syndrome
Neoplasm of ovary
Condition: not provided
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000174 rs_587781288

7 SubmittersRCV000128975RCV000418811RCV000427674RCV000437920RCV000439333RCV000427068RCV000428004RCV000429076RCV000444430RCV000436530RCV000417795RCV000423419RCV000435449RCV000472876RCV000785510RCV001582600RCV002288619
NM_000546.6(TP53):c.373A>C (p.Thr125Pro) SNV
Germline/somatic		 Chr17:7675996 Conflicting classifications of pathogenicity Squamous cell carcinoma of the head and neck
Neoplasm of the large intestine
Transitional cell carcinoma of the bladder
Malignant melanoma of skin
Breast neoplasm
Glioblastoma
Brainstem glioma
Gastric adenocarcinoma
Small cell lung carcinoma
Neoplasm of brain
Acute myeloid leukemia
Hepatocellular carcinoma
Squamous cell carcinoma of the skin
Ovarian serous cystadenocarcinoma
Papillary renal cell carcinoma type 1
Lung adenocarcinoma
Adrenal cortex carcinoma
Squamous cell lung carcinoma
Carcinoma of esophagus
Pancreatic adenocarcinoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16603081 rs_1057520003

4 SubmittersRCV000418295RCV000417666RCV000422630RCV000423200RCV000425049RCV000426486RCV000428307RCV000427158RCV000429194RCV000432449RCV000433906RCV000434887RCV000436394RCV000434566RCV000439620RCV000437835RCV000439813RCV000442101RCV000442185RCV000443332RCV001041773RCV004022243RCV004022244
NM_000546.6(TP53):c.374C>G (p.Thr125Arg) SNV
Germline/somatic		 Chr17:7675995 Pathogenic/Likely pathogenic Papillary renal cell carcinoma type 1
Squamous cell carcinoma of the skin
Acute myeloid leukemia
Carcinoma of esophagus
Squamous cell lung carcinoma
Neoplasm of the large intestine
Lung adenocarcinoma
Transitional cell carcinoma of the bladder
Gastric adenocarcinoma
Glioblastoma
Breast neoplasm
Pancreatic adenocarcinoma
Adrenal cortex carcinoma
Small cell lung carcinoma
Hepatocellular carcinoma
Neoplasm of brain
Li-Fraumeni syndrome
Brainstem glioma
Malignant melanoma of skin
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16044089 rs_786201057

6 SubmittersRCV000423812RCV000424026RCV000429727RCV000432131RCV000434737RCV000423368RCV000442028RCV000440628RCV000430321RCV000419385RCV000419630RCV000436286RCV000436638RCV000424710RCV000425385RCV000428977RCV000524926RCV000442755RCV000436088RCV000440402RCV000442833RCV000492090RCV002289540
NM_000546.6(TP53):c.644G>T (p.Ser215Ile) SNV
Germline/somatic		 Chr17:7674887 Conflicting classifications of pathogenicity Hepatocellular carcinoma
Small cell lung carcinoma
Lung adenocarcinoma
Pancreatic adenocarcinoma
Breast neoplasm
Acute myeloid leukemia
Carcinoma of esophagus
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA16603075 rs_587782177

4 SubmittersRCV000420881RCV000420217RCV000423272RCV000430889RCV000435696RCV000429840RCV000441630RCV000433950RCV000440493RCV000785347RCV001025280RCV003509529
NM_000546.6(TP53):c.821T>G (p.Val274Gly) SNV
Germline/somatic		 Chr17:7673799 Conflicting classifications of pathogenicity Hepatocellular carcinoma
Pancreatic adenocarcinoma
Lung adenocarcinoma
Prostate adenocarcinoma
Neoplasm of the large intestine
Ovarian serous cystadenocarcinoma
Malignant melanoma of skin
Neoplasm of brain
Gastric adenocarcinoma
Breast neoplasm
Hereditary cancer-predisposing syndrome
Lip and oral cavity carcinoma
Li-Fraumeni syndrome 1
Small cell lung carcinoma
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA16603090 rs_1057520006

5 SubmittersRCV000419865RCV000421122RCV000420544RCV000426446RCV000431168RCV000431803RCV000430539RCV000437117RCV000439046RCV000441279RCV000492506RCV001255678RCV004022249RCV000438367RCV000692432
NM_000546.6(TP53):c.821T>A (p.Val274Asp) SNV
Germline/somatic		 Chr17:7673799 Conflicting classifications of pathogenicity Malignant melanoma of skin
Neoplasm of brain
Small cell lung carcinoma
Gastric adenocarcinoma
Neoplasm of the large intestine
Hepatocellular carcinoma
Prostate adenocarcinoma
Ovarian serous cystadenocarcinoma
Pancreatic adenocarcinoma
Lung adenocarcinoma
Breast neoplasm
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16603089 rs_1057520006

3 SubmittersRCV000419239RCV000424200RCV000425563RCV000424885RCV000431443RCV000432106RCV000434236RCV000436477RCV000443884RCV000441480RCV000443016RCV001229449RCV003168618
NM_000546.6(TP53):c.642T>G (p.His214Gln) SNV
Germline		 Chr17:7674889 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA000305 rs_587781386

9 SubmittersRCV000129218RCV000195927RCV000410083RCV001283869RCV002267869
NM_000546.6(TP53):c.517G>T (p.Val173Leu) SNV
Germline/somatic		 Chr17:7675095 Pathogenic/Likely pathogenic Breast neoplasm
Malignant melanoma of skin
Lung adenocarcinoma
Carcinoma of esophagus
Ovarian serous cystadenocarcinoma
Brainstem glioma
Malignant neoplasm of body of uterus
Pancreatic adenocarcinoma
Squamous cell carcinoma of the head and neck
Neoplasm of the large intestine
Hepatocellular carcinoma
Neoplasm of brain
Gastric adenocarcinoma
Adrenal cortex carcinoma
Small cell lung carcinoma
Li-Fraumeni syndrome
Neoplasm of ovary
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603082 rs_876660754

7 SubmittersRCV000423312RCV000421780RCV000417683RCV000427345RCV000428483RCV000427493RCV000429213RCV000432458RCV000434691RCV000438383RCV000442009RCV000433209RCV000440549RCV000443390RCV000439916RCV000694763RCV000785539RCV001821147RCV002289542RCV002289541
NM_000546.6(TP53):c.820G>T (p.Val274Phe) SNV
Germline/somatic		 Chr17:7673800 Conflicting classifications of pathogenicity Neoplasm of the large intestine
Pancreatic adenocarcinoma
Gastric adenocarcinoma
Lung adenocarcinoma
Malignant melanoma of skin
Prostate adenocarcinoma
Small cell lung carcinoma
Lip and oral cavity carcinoma
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Ovarian serous cystadenocarcinoma
Li-Fraumeni syndrome 1
Hepatocellular carcinoma
Neoplasm of brain
Breast neoplasm		 Criteria Provided
Conflicting Classifications
 CA16603088 rs_1057520005

5 SubmittersRCV000418736RCV000419355RCV000430114RCV000428932RCV000429450RCV000435470RCV000436116RCV001255677RCV001344689RCV002429349RCV000418237RCV004022248RCV000423526RCV000440120RCV000440773
NM_000546.6(TP53):c.518T>A (p.Val173Glu) SNV
Germline/somatic		 Chr17:7675094 Conflicting classifications of pathogenicity Small cell lung carcinoma
Adrenal cortex carcinoma
Hepatocellular carcinoma
Breast neoplasm
Malignant neoplasm of body of uterus
Neoplasm of brain
Pancreatic adenocarcinoma
Malignant melanoma of skin
Ovarian serous cystadenocarcinoma
Gastric adenocarcinoma
Carcinoma of esophagus
Squamous cell carcinoma of the head and neck
Neoplasm of the large intestine
Lung adenocarcinoma
Brainstem glioma
Hereditary cancer-predisposing syndrome
not specified
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16603083 rs_1057519747

5 SubmittersRCV000421130RCV000419351RCV000420346RCV000425882RCV000425654RCV000430605RCV000430481RCV000431387RCV000437016RCV000435883RCV000437139RCV000441782RCV000442089RCV000443047RCV000443122RCV000574130RCV000582350RCV002524700RCV004022245
NM_000546.6(TP53):c.815T>A (p.Val272Glu) SNV
Germline/somatic		 Chr17:7673805 Conflicting classifications of pathogenicity Squamous cell carcinoma of the head and neck
Lung adenocarcinoma
Neoplasm of the large intestine
Malignant neoplasm of body of uterus
Squamous cell carcinoma of the skin
Medulloblastoma
Gastric adenocarcinoma
Li-Fraumeni syndrome
Pancreatic adenocarcinoma
Li-Fraumeni syndrome 1
Ovarian serous cystadenocarcinoma
Transitional cell carcinoma of the bladder
Multiple myeloma
Papillary renal cell carcinoma type 1
Breast neoplasm		 Criteria Provided
Conflicting Classifications
 CA16603087 rs_876660333

3 SubmittersRCV000424786RCV000429369RCV000434183RCV000438331RCV000440060RCV000442953RCV000444340RCV001228585RCV000421804RCV004022247RCV000422825RCV000423493RCV000427639RCV000433521RCV000442761
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) SNV
Germline/somatic		 Chr17:7673776 Pathogenic Hereditary cancer-predisposing syndrome
Pancreatic adenocarcinoma
Lung adenocarcinoma
Carcinoma of esophagus
Squamous cell carcinoma of the skin
Transitional cell carcinoma of the bladder
Papillary renal cell carcinoma type 1
Prostate adenocarcinoma
Neoplasm of brain
Glioblastoma
Breast neoplasm
Squamous cell carcinoma of the head and neck
Malignant neoplasm of body of uterus
Gastric adenocarcinoma
Squamous cell lung carcinoma
Ovarian serous cystadenocarcinoma
Non-Hodgkin lymphoma
Hepatocellular carcinoma
Malignant melanoma of skin
Neoplasm of the large intestine
Neoplasm of ovary
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000453 rs_28934574

5 SubmittersRCV000129010RCV000422367RCV000422134RCV000422747RCV000435503RCV000437895RCV000440653RCV000430047RCV000419993RCV000425179RCV000437219RCV000442540RCV000430393RCV000431764RCV000432433RCV000442627RCV000419333RCV000427647RCV000440446RCV000445294RCV000785299RCV001380073RCV002288620
NM_000546.6(TP53):c.646G>T (p.Val216Leu) SNV
Germline/somatic		 Chr17:7674885 Conflicting classifications of pathogenicity Ovarian serous cystadenocarcinoma
Neoplasm of brain
Carcinoma of esophagus
Glioblastoma
Squamous cell carcinoma of the skin
Lung adenocarcinoma
Breast neoplasm
Squamous cell carcinoma of the head and neck
Uterine carcinosarcoma
Squamous cell lung carcinoma
Neoplasm of ovary
Pancreatic adenocarcinoma
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16603084 rs_730882025

6 SubmittersRCV000417716RCV000420083RCV000422099RCV000426649RCV000428855RCV000427972RCV000431215RCV000439081RCV000437749RCV000437980RCV000785309RCV000442710RCV001042741RCV003321589RCV004022246RCV002365461
NM_000546.6(TP53):c.745A>G (p.Arg249Gly) SNV
Germline/somatic		 Chr17:7674218 Conflicting classifications of pathogenicity Gastric adenocarcinoma
Prostate adenocarcinoma
Carcinoma of esophagus
Lung adenocarcinoma
Uterine carcinosarcoma
Hepatocellular carcinoma
Glioblastoma
Squamous cell lung carcinoma
Squamous cell carcinoma of the head and neck
Small cell lung carcinoma
Pancreatic adenocarcinoma
Malignant neoplasm of body of uterus
Squamous cell carcinoma of the skin
Ovarian serous cystadenocarcinoma
Medulloblastoma
Condition: not provided
Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16603071 rs_587782082

7 SubmittersRCV000419254RCV000418381RCV000423993RCV000426656RCV000421216RCV000427933RCV000427287RCV000429532RCV000428633RCV000436273RCV000438863RCV000436898RCV000441694RCV000444068RCV000437517RCV000581522RCV000785305RCV001026460RCV000467567RCV002289533
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) SNV
Germline/somatic		 Chr17:7674221 Pathogenic Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Brainstem glioma
Hereditary cancer-predisposing syndrome
Ovarian serous cystadenocarcinoma
Myelodysplastic syndrome
Condition: not provided
Squamous cell lung carcinoma
Neoplasm
Acute myeloid leukemia
Lung adenocarcinoma
Glioblastoma
Squamous cell carcinoma of the head and neck
B-cell chronic lymphocytic leukemia
Carcinoma of esophagus
Multiple myeloma
Uterine carcinosarcoma
Hepatocellular carcinoma
Gastric adenocarcinoma
Pancreatic adenocarcinoma
Transitional cell carcinoma of the bladder
Medulloblastoma
Neoplasm of ovary
7 conditions
Small cell lung carcinoma
Prostate adenocarcinoma
Breast neoplasm
Neoplasm of brain
Lip and oral cavity carcinoma
Neoplasm of the large intestine
Malignant neoplasm of body of uterus
Squamous cell carcinoma of the skin
Malignant melanoma of skin
Choroid plexus carcinoma
Gallbladder cancer
Breast and/or ovarian cancer
Congenital fibrosarcoma
Gastric cancer
Malignant lymphoma, large B-cell, diffuse
Adrenocortical carcinoma, hereditary		 Reviewed By Expert Panel
 CA000382 rs_121912651

30 SubmittersRCV000013140RCV000168242RCV000424308RCV000115735RCV000424415RCV000425083RCV000213057RCV000434504RCV000438698RCV000418495RCV000419032RCV000419150RCV000423184RCV000423804RCV000429884RCV000431508RCV000431689RCV000435803RCV000430543RCV000444845RCV000436398RCV000440560RCV000785485RCV000735293RCV000419857RCV000425682RCV000429777RCV000433905RCV001255674RCV000440422RCV000441091RCV000441557RCV000442243RCV001271100RCV001374442RCV003149569RCV003105772RCV003162243RCV003318332RCV003460463
NM_000546.6(TP53):c.1101-2A>G SNV
Germline/somatic		 Chr17:7669692 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000038 rs_587781664

6 SubmittersRCV000129814RCV000206779RCV000213070RCV002288631
NM_000546.6(TP53):c.637C>G (p.Arg213Gly) SNV
Germline/somatic		 Chr17:7674894 Conflicting classifications of pathogenicity Hepatocellular carcinoma
Malignant neoplasm of body of uterus
Glioblastoma
Squamous cell carcinoma of the head and neck
Malignant melanoma of skin
Neoplasm of the large intestine
Carcinoma of esophagus
Adenoid cystic carcinoma
Pancreatic adenocarcinoma
Adrenal cortex carcinoma
Papillary renal cell carcinoma type 1
Ovarian serous cystadenocarcinoma
Neoplasm of brain
Gastric adenocarcinoma
Squamous cell carcinoma of the skin
Transitional cell carcinoma of the bladder
Uterine carcinosarcoma
Nasopharyngeal neoplasm
Squamous cell lung carcinoma
Prostate adenocarcinoma
Lung adenocarcinoma
Breast neoplasm
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16603068 rs_397516436

4 SubmittersRCV000417479RCV000419627RCV000420272RCV000421648RCV000421524RCV000425630RCV000424254RCV000426157RCV000426799RCV000428823RCV000428146RCV000431481RCV000430949RCV000432206RCV000432863RCV000436862RCV000438186RCV000437472RCV000438834RCV000438677RCV000444193RCV000444980RCV002356518RCV002524699RCV004022237
NM_000546.6(TP53):c.613T>C (p.Tyr205His) SNV
Germline/somatic		 Chr17:7674918 Pathogenic/Likely pathogenic Pancreatic adenocarcinoma
Multiple myeloma
Neoplasm of brain
Carcinoma of esophagus
Glioblastoma
Non-Hodgkin lymphoma
Lung adenocarcinoma
Uterine carcinosarcoma
Hepatocellular carcinoma
Papillary renal cell carcinoma type 1
Malignant neoplasm of body of uterus
Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the head and neck
Neoplasm of the large intestine
Squamous cell lung carcinoma
Breast neoplasm
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603099 rs_1057520008

5 SubmittersRCV000419308RCV000420368RCV000421826RCV000422887RCV000424493RCV000427755RCV000426781RCV000431739RCV000431958RCV000432726RCV000437451RCV000437587RCV000439923RCV000440094RCV000443622RCV000443753RCV000819983RCV000775886RCV004022252
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn) SNV
Germline/somatic		 Chr17:7674918 Conflicting classifications of pathogenicity Carcinoma of esophagus
Papillary renal cell carcinoma type 1
Breast neoplasm
Squamous cell carcinoma of the head and neck
Hepatocellular carcinoma
Neoplasm of brain
Ovarian serous cystadenocarcinoma
Neoplasm of the large intestine
Multiple myeloma
Malignant neoplasm of body of uterus
Glioblastoma
Non-Hodgkin lymphoma
Pancreatic adenocarcinoma
Uterine carcinosarcoma
Lung adenocarcinoma
Squamous cell lung carcinoma
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA16603098 rs_1057520008

6 SubmittersRCV000417461RCV000419577RCV000420753RCV000422784RCV000426051RCV000424682RCV000424892RCV000430294RCV000430575RCV000432365RCV000433474RCV000435608RCV000437987RCV000441202RCV000444368RCV000444287RCV000662621RCV001024933RCV001851022
NM_000546.6(TP53):c.337T>G (p.Phe113Val) SNV
Germline		 Chr17:7676032 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA000124 rs_587781642

4 SubmittersRCV000129770RCV000633376RCV002288629
NM_000546.6(TP53):c.742C>G (p.Arg248Gly) SNV
Germline/somatic		 Chr17:7674221 Pathogenic/Likely pathogenic Uterine carcinosarcoma
Pancreatic adenocarcinoma
Breast neoplasm
Neoplasm of the large intestine
Squamous cell lung carcinoma
Ovarian serous cystadenocarcinoma
Multiple myeloma
B-cell chronic lymphocytic leukemia
Brainstem glioma
Malignant melanoma of skin
Squamous cell carcinoma of the head and neck
Transitional cell carcinoma of the bladder
Myelodysplastic syndrome
Malignant neoplasm of body of uterus
Small cell lung carcinoma
Carcinoma of esophagus
Acute myeloid leukemia
Neoplasm of brain
Prostate adenocarcinoma
Hepatocellular carcinoma
Gastric adenocarcinoma
Medulloblastoma
Glioblastoma
Lung adenocarcinoma
Squamous cell carcinoma of the skin
Li-Fraumeni syndrome
Carcinoma of colon
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603069 rs_121912651

5 SubmittersRCV000417693RCV000418362RCV000420498RCV000422668RCV000423297RCV000425782RCV000424776RCV000425100RCV000425394RCV000427544RCV000427948RCV000430735RCV000432931RCV000432207RCV000433611RCV000435353RCV000435050RCV000436038RCV000437882RCV000441010RCV000441711RCV000440334RCV000444356RCV000444519RCV000444427RCV000633396RCV000626118RCV001026425RCV004022238
NM_000546.6(TP53):c.614A>C (p.Tyr205Ser) SNV
Somatic		 Chr17:7674917 Likely pathogenic Glioblastoma
Squamous cell carcinoma of the head and neck
Papillary renal cell carcinoma type 1
Malignant neoplasm of body of uterus
Breast neoplasm
Carcinoma of esophagus
Lung adenocarcinoma
Ovarian serous cystadenocarcinoma
Non-Hodgkin lymphoma
Neoplasm of brain
Multiple myeloma
Hepatocellular carcinoma
Pancreatic adenocarcinoma
Uterine carcinosarcoma
Squamous cell lung carcinoma
Neoplasm of the large intestine		 No Assertion Criteria Provided
 CA16603097 rs_1057520007

1 SubmittersRCV000418906RCV000417872RCV000423862RCV000424176RCV000428105RCV000426347RCV000428760RCV000430958RCV000433698RCV000436591RCV000435531RCV000437249RCV000438368RCV000441249RCV000440868RCV000443239
NM_000546.6(TP53):c.746G>T (p.Arg249Met) SNV
Germline/somatic		 Chr17:7674217 Conflicting classifications of pathogenicity Squamous cell carcinoma of the skin
Gastric adenocarcinoma
Hepatocellular carcinoma
Small cell lung carcinoma
Lung adenocarcinoma
Malignant neoplasm of body of uterus
Glioblastoma
Ovarian serous cystadenocarcinoma
Medulloblastoma
Prostate adenocarcinoma
Squamous cell carcinoma of the head and neck
Carcinoma of esophagus
Squamous cell lung carcinoma
Uterine carcinosarcoma
Pancreatic adenocarcinoma
Li-Fraumeni syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16603070 rs_587782329

5 SubmittersRCV000419533RCV000420945RCV000421561RCV000420239RCV000422393RCV000430463RCV000434651RCV000428988RCV000429799RCV000439247RCV000437240RCV000431805RCV000445070RCV000445103RCV000440059RCV000690948RCV000782360RCV004022239
NM_000546.6(TP53):c.614A>T (p.Tyr205Phe) SNV
Somatic		 Chr17:7674917 Likely pathogenic Non-Hodgkin lymphoma
Papillary renal cell carcinoma type 1
Malignant neoplasm of body of uterus
Lung adenocarcinoma
Breast neoplasm
Neoplasm of brain
Pancreatic adenocarcinoma
Ovarian serous cystadenocarcinoma
Squamous cell lung carcinoma
Glioblastoma
Squamous cell carcinoma of the head and neck
Multiple myeloma
Hepatocellular carcinoma
Carcinoma of esophagus
Neoplasm of the large intestine
Uterine carcinosarcoma		 No Assertion Criteria Provided
 CA16603096 rs_1057520007

1 SubmittersRCV000418952RCV000419588RCV000421235RCV000421916RCV000424047RCV000428672RCV000426974RCV000429233RCV000429897RCV000431494RCV000434394RCV000436627RCV000439588RCV000438926RCV000443993RCV000443853
NM_000546.6(TP53):c.581T>G (p.Leu194Arg) SNV
Germline/somatic		 Chr17:7674950 Conflicting classifications of pathogenicity Neoplasm of uterine cervix
Neoplasm of brain
Ovarian serous cystadenocarcinoma
Neoplasm of the large intestine
Squamous cell carcinoma of the head and neck
Breast neoplasm
Hepatocellular carcinoma
Lung adenocarcinoma
Transitional cell carcinoma of the bladder
Glioblastoma
Pancreatic adenocarcinoma
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Colorectal cancer
Neoplasm of ovary
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16044097 rs_1057519998

6 SubmittersRCV000419180RCV000420755RCV000422070RCV000430366RCV000424933RCV000431014RCV000428827RCV000436915RCV000439886RCV000437791RCV000440633RCV000535418RCV000561306RCV001270270RCV000785551RCV004022229
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) SNV
Germline/somatic		 Chr17:7673802 Pathogenic Pancreatic adenocarcinoma
Neoplasm of brain
Neoplasm of the large intestine
Adrenal cortex carcinoma
Squamous cell carcinoma of the head and neck
Medulloblastoma
B-cell chronic lymphocytic leukemia
Brainstem glioma
Lung adenocarcinoma
Malignant neoplasm of body of uterus
Acute myeloid leukemia
Malignant melanoma of skin
Multiple myeloma
Prostate adenocarcinoma
Carcinoma of esophagus
Gastric adenocarcinoma
Small cell lung carcinoma
Squamous cell lung carcinoma
Breast neoplasm
Uterine carcinosarcoma
Hepatocellular carcinoma
Ovarian serous cystadenocarcinoma
Hereditary cancer-predisposing syndrome
Metastatic pancreatic neuroendocrine tumours
Li-Fraumeni syndrome
Neoplasm of ovary
Transitional cell carcinoma of the bladder
Glioblastoma
Condition: not provided
Li-Fraumeni syndrome 1
12 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA001530 rs_28934576

9 SubmittersRCV000418536RCV000418738RCV000423633RCV000426132RCV000421259RCV000425890RCV000423490RCV000428692RCV000423981RCV000429444RCV000433315RCV000427314RCV000436818RCV000431067RCV000434296RCV000437048RCV000435767RCV000442241RCV000438507RCV000441792RCV000434695RCV000444109RCV000568814RCV000515526RCV000822080RCV000785524RCV000444782RCV000444989RCV001539823RCV002289534RCV002502455
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) SNV
Germline/somatic		 Chr17:7673803 Pathogenic Lung adenocarcinoma
Glioblastoma
Ovarian serous cystadenocarcinoma
B-cell chronic lymphocytic leukemia
Malignant neoplasm of body of uterus
Hepatocellular carcinoma
Neoplasm of brain
Medulloblastoma
Malignant melanoma of skin
Squamous cell carcinoma of the head and neck
Brainstem glioma
Small cell lung carcinoma
Carcinoma of esophagus
Adrenal cortex carcinoma
Multiple myeloma
Prostate adenocarcinoma
Pancreatic adenocarcinoma
Squamous cell lung carcinoma
Neoplasm of the large intestine
Gastric adenocarcinoma
Uterine carcinosarcoma
Acute myeloid leukemia
Breast neoplasm
Transitional cell carcinoma of the bladder
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA001542 rs_121913343

5 SubmittersRCV000418085RCV000420280RCV000420482RCV000422550RCV000422795RCV000424918RCV000425669RCV000427515RCV000427884RCV000431180RCV000430119RCV000431455RCV000432372RCV000435074RCV000433489RCV000435480RCV000436543RCV000438218RCV000439774RCV000440794RCV000440997RCV000444595RCV000445287RCV000445314RCV000561782RCV000698744RCV002289535
NM_000546.6(TP53):c.839G>A (p.Arg280Lys) SNV
Germline/somatic		 Chr17:7673781 Conflicting classifications of pathogenicity Malignant melanoma of skin
Hepatocellular carcinoma
Squamous cell carcinoma of the head and neck
Squamous cell lung carcinoma
Lung adenocarcinoma
Neoplasm of uterine cervix
Ovarian serous cystadenocarcinoma
Breast neoplasm
Squamous cell carcinoma of the skin
Nasopharyngeal neoplasm
Uterine carcinosarcoma
Gastric adenocarcinoma
Carcinoma of esophagus
Acute myeloid leukemia
Neoplasm of brain
Transitional cell carcinoma of the bladder
Small cell lung carcinoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA16603072 rs_121912660

4 SubmittersRCV000418023RCV000425366RCV000423448RCV000423739RCV000423933RCV000428952RCV000428734RCV000431165RCV000433592RCV000433708RCV000436148RCV000436528RCV000438568RCV000440980RCV000442077RCV000444685RCV000444610RCV000492483RCV000633356
NM_000546.6(TP53):c.838A>G (p.Arg280Gly) SNV
Germline/somatic		 Chr17:7673782 Conflicting classifications of pathogenicity Small cell lung carcinoma
Nasopharyngeal neoplasm
Malignant melanoma of skin
Squamous cell lung carcinoma
Gastric adenocarcinoma
Carcinoma of esophagus
Uterine carcinosarcoma
Squamous cell carcinoma of the skin
Transitional cell carcinoma of the bladder
Squamous cell carcinoma of the head and neck
Acute myeloid leukemia
Neoplasm of uterine cervix
Ovarian serous cystadenocarcinoma
Neoplasm of brain
Lung adenocarcinoma
Breast neoplasm
Hereditary cancer-predisposing syndrome
Hepatocellular carcinoma
Li-Fraumeni syndrome
Neoplasm of ovary
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16603073 rs_753660142

7 SubmittersRCV000418465RCV000421324RCV000419917RCV000420625RCV000426479RCV000427170RCV000424417RCV000430194RCV000431582RCV000429590RCV000439619RCV000445156RCV000439812RCV000435565RCV000436708RCV000438255RCV000568150RCV000439157RCV000706131RCV000785300RCV003476010RCV004022240
NM_000546.6(TP53):c.695T>C (p.Ile232Thr) SNV
Germline		 Chr17:7674268 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000331 rs_587781589

3 SubmittersRCV000129637RCV000582737RCV002510789
NM_000546.6(TP53):c.614A>G (p.Tyr205Cys) SNV
Germline/somatic		 Chr17:7674917 Pathogenic Hepatocellular carcinoma
Papillary renal cell carcinoma type 1
Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the head and neck
Non-Hodgkin lymphoma
Uterine carcinosarcoma
Glioblastoma
Malignant neoplasm of body of uterus
Breast neoplasm
Squamous cell lung carcinoma
Pancreatic adenocarcinoma
Neoplasm of the large intestine
Multiple myeloma
Lung adenocarcinoma
Carcinoma of esophagus
Neoplasm of brain
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603095 rs_1057520007

4 SubmittersRCV000422077RCV000422980RCV000427034RCV000424901RCV000427749RCV000430410RCV000431652RCV000433236RCV000432320RCV000437968RCV000437254RCV000439980RCV000440667RCV000442863RCV000443687RCV000443828RCV000704312RCV002356520RCV004022251
NM_000546.6(TP53):c.487T>C (p.Tyr163His) SNV
Germline/somatic		 Chr17:7675125 Conflicting classifications of pathogenicity Ovarian serous cystadenocarcinoma
Carcinoma of esophagus
Squamous cell lung carcinoma
Malignant melanoma of skin
Uterine carcinosarcoma
Breast neoplasm
Small cell lung carcinoma
Brainstem glioma
Pancreatic adenocarcinoma
Neoplasm of brain
Lung adenocarcinoma
Neoplasm of the large intestine
Hepatocellular carcinoma
Squamous cell carcinoma of the head and neck
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 CA16603094 rs_786203436

5 SubmittersRCV000417511RCV000418221RCV000418859RCV000423893RCV000423239RCV000425645RCV000428451RCV000431265RCV000434193RCV000435900RCV000436639RCV000438678RCV000440924RCV000441609RCV001023195RCV001071488RCV002289543RCV003476012
NM_000546.6(TP53):c.842A>G (p.Asp281Gly) SNV
Germline/somatic		 Chr17:7673778 Pathogenic Hereditary cancer-predisposing syndrome
Neuroblastoma
Squamous cell carcinoma of the head and neck
Transitional cell carcinoma of the bladder
Glioblastoma
Squamous cell carcinoma of the skin
Breast neoplasm
Malignant neoplasm of body of uterus
Squamous cell lung carcinoma
Papillary renal cell carcinoma type 1
Multiple myeloma
Lung adenocarcinoma
B-cell chronic lymphocytic leukemia
Uterine carcinosarcoma
Pancreatic adenocarcinoma
Hepatocellular carcinoma
Gastric adenocarcinoma
Malignant melanoma of skin
Ovarian serous cystadenocarcinoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000450 rs_587781525

7 SubmittersRCV000129516RCV000425885RCV000426980RCV000428043RCV000434395RCV000435472RCV000436592RCV000418481RCV000423760RCV000431187RCV000423959RCV000433596RCV000441016RCV000442068RCV000438583RCV000442813RCV000418257RCV000429146RCV000436807RCV000633367RCV002288626RCV003237737
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) SNV
Germline/somatic		 Chr17:7673775 Pathogenic/Likely pathogenic Neoplasm of brain
Non-Hodgkin lymphoma
Squamous cell carcinoma of the skin
Gastric adenocarcinoma
Transitional cell carcinoma of the bladder
Lung adenocarcinoma
Ovarian serous cystadenocarcinoma
Malignant melanoma of skin
Papillary renal cell carcinoma type 1
Glioblastoma
Prostate adenocarcinoma
Hepatocellular carcinoma
Pancreatic adenocarcinoma
Squamous cell lung carcinoma
Malignant neoplasm of body of uterus
Carcinoma of esophagus
Neoplasm of the large intestine
Breast neoplasm
Squamous cell carcinoma of the head and neck
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
12 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603074 rs_730882008

8 SubmittersRCV000417824RCV000417919RCV000419006RCV000424978RCV000423005RCV000426071RCV000423789RCV000425389RCV000427957RCV000428608RCV000432620RCV000434763RCV000435036RCV000433722RCV000438637RCV000440221RCV000441023RCV000441861RCV000442220RCV000492764RCV000709402RCV002289536RCV002502456
NM_000546.6(TP53):c.747G>T (p.Arg249Ser) SNV
Germline/somatic		 Chr17:7674216 Pathogenic/Likely pathogenic Hepatocellular carcinoma
Cervical cancer
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Squamous cell carcinoma of the head and neck
Condition: not provided
Neoplasm of ovary
Adrenal cortex carcinoma
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000392 rs_28934571

11 SubmittersRCV000013145RCV000013146RCV000464372RCV000579519RCV001270276RCV001562247RCV000785491RCV003996089RCV004018617
NM_000546.6(TP53):c.824G>C (p.Cys275Ser) SNV
Germline/somatic		 Chr17:7673796 Conflicting classifications of pathogenicity Lung adenocarcinoma
Glioblastoma
Neoplasm of the large intestine
Adrenal cortex carcinoma
Carcinoma of esophagus
Ovarian serous cystadenocarcinoma
Transitional cell carcinoma of the bladder
Malignant melanoma of skin
Hepatocellular carcinoma
B-cell chronic lymphocytic leukemia
Papillary renal cell carcinoma type 1
Squamous cell carcinoma of the head and neck
Pancreatic adenocarcinoma
Breast neoplasm
Neoplasm of brain
Multiple myeloma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA16603007 rs_863224451

4 SubmittersRCV000419235RCV000420599RCV000419912RCV000423341RCV000423990RCV000425744RCV000426441RCV000431286RCV000430590RCV000434260RCV000436480RCV000437115RCV000438476RCV000441019RCV000441335RCV000441960RCV000580293RCV002521506
NM_000546.6(TP53):c.823T>C (p.Cys275Arg) SNV
Germline/somatic		 Chr17:7673797 Conflicting classifications of pathogenicity Neoplasm of brain
Breast neoplasm
Hepatocellular carcinoma
Neoplasm of the large intestine
Multiple myeloma
Pancreatic adenocarcinoma
Papillary renal cell carcinoma type 1
Transitional cell carcinoma of the bladder
Lung adenocarcinoma
Carcinoma of esophagus
Malignant melanoma of skin
Glioblastoma
Adrenal cortex carcinoma
B-cell chronic lymphocytic leukemia
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16603008 rs_1057519983

4 SubmittersRCV000418020RCV000420225RCV000420853RCV000425483RCV000424757RCV000426139RCV000431136RCV000430390RCV000432909RCV000433579RCV000435695RCV000435015RCV000440640RCV000441393RCV000442259RCV000443110RCV001183954RCV002521507RCV004022208
NM_000546.6(TP53):c.841G>T (p.Asp281Tyr) SNV
Germline/somatic		 Chr17:7673779 Pathogenic/Likely pathogenic B-cell chronic lymphocytic leukemia
Squamous cell lung carcinoma
Transitional cell carcinoma of the bladder
Breast neoplasm
Squamous cell carcinoma of the head and neck
Pancreatic adenocarcinoma
Multiple myeloma
Lung adenocarcinoma
Gastric adenocarcinoma
Papillary renal cell carcinoma type 1
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Glioblastoma
Squamous cell carcinoma of the skin
Malignant melanoma of skin
Malignant neoplasm of body of uterus
Neuroblastoma
Uterine carcinosarcoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603009 rs_764146326

3 SubmittersRCV000419187RCV000419880RCV000421597RCV000422382RCV000422971RCV000424398RCV000427237RCV000429763RCV000431847RCV000430133RCV000432647RCV000437480RCV000438115RCV000436876RCV000440017RCV000442319RCV000442636RCV000443331RCV000792342RCV004022209
NM_000546.6(TP53):c.841G>A (p.Asp281Asn) SNV
Germline/somatic		 Chr17:7673779 Pathogenic/Likely pathogenic Multiple myeloma
Hepatocellular carcinoma
Neuroblastoma
Glioblastoma
B-cell chronic lymphocytic leukemia
Squamous cell carcinoma of the skin
Breast neoplasm
Malignant melanoma of skin
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Transitional cell carcinoma of the bladder
Uterine carcinosarcoma
Papillary renal cell carcinoma type 1
Malignant neoplasm of body of uterus
Lung adenocarcinoma
Squamous cell carcinoma of the head and neck
Pancreatic adenocarcinoma
Squamous cell lung carcinoma
Neoplasm of ovary
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA001503 rs_764146326

5 SubmittersRCV000418705RCV000421233RCV000422096RCV000426863RCV000424002RCV000428837RCV000429505RCV000428968RCV000426180RCV000434267RCV000431489RCV000437075RCV000439749RCV000442054RCV000443405RCV000443489RCV000436424RCV000438896RCV000785452RCV000824609RCV002446642
NM_000546.6(TP53):c.325T>G (p.Phe109Val) SNV
Germline		 Chr17:7676044 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16608667 rs_1057523496

2 SubmittersRCV000434126RCV004022449
NM_000546.6(TP53):c.469G>T (p.Val157Phe) SNV
Germline/somatic		 Chr17:7675143 Conflicting classifications of pathogenicity Hepatocellular carcinoma
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Squamous cell carcinoma		 Criteria Provided
Conflicting Classifications
 CA000222 rs_121912654

8 SubmittersRCV000013147RCV000566103RCV000785500RCV001823095RCV000794324RCV003128570
NM_000546.6(TP53):c.841G>C (p.Asp281His) SNV
Germline/somatic		 Chr17:7673779 Pathogenic/Likely pathogenic Malignant melanoma of skin
Squamous cell lung carcinoma
Neuroblastoma
Squamous cell carcinoma of the skin
Multiple myeloma
Uterine carcinosarcoma
B-cell chronic lymphocytic leukemia
Papillary renal cell carcinoma type 1
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the head and neck
Lung adenocarcinoma
Malignant neoplasm of body of uterus
Transitional cell carcinoma of the bladder
Pancreatic adenocarcinoma
Breast neoplasm
Hepatocellular carcinoma
Glioblastoma
Gallbladder cancer
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603010 rs_764146326

5 SubmittersRCV000420094RCV000418744RCV000421295RCV000419869RCV000422034RCV000423682RCV000428355RCV000427301RCV000429459RCV000427507RCV000429671RCV000434610RCV000437082RCV000436837RCV000439019RCV000438193RCV000439212RCV000443566RCV001292542RCV001306199RCV002446644RCV004022210
NM_000546.6(TP53):c.248C>A (p.Ala83Glu) SNV
Germline		 Chr17:7676121 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA000082 rs_201717599

3 SubmittersRCV000130694RCV001303642RCV002288640
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) SNV
Germline/somatic		 Chr17:7674872 Pathogenic Hereditary cancer-predisposing syndrome
Transitional cell carcinoma of the bladder
Prostate adenocarcinoma
Uterine carcinosarcoma
Acute myeloid leukemia
Condition: not provided
Glioblastoma
Ovarian serous cystadenocarcinoma
Papillary renal cell carcinoma, sporadic
Papillary renal cell carcinoma type 1
Malignant neoplasm of body of uterus
Breast neoplasm
Malignant melanoma of skin
Neoplasm of the large intestine
Li-Fraumeni syndrome
Squamous cell carcinoma of the head and neck
Gastric adenocarcinoma
Neoplasm of brain
Small cell lung carcinoma
Squamous cell lung carcinoma
Hepatocellular carcinoma
Pancreatic adenocarcinoma
Lung adenocarcinoma
Neoplasm of ovary
B-cell chronic lymphocytic leukemia
12 conditions
Li-Fraumeni syndrome 1
Breast carcinoma
Adrenocortical carcinoma, hereditary
Gastric cancer
TP53-related disorder
Adrenal cortex carcinoma		 Reviewed By Expert Panel
 CA000315 rs_121912666

24 SubmittersRCV000115731RCV000428097RCV000434614RCV000436553RCV000439645RCV000213055RCV000417417RCV000418951RCV000428791RCV000423029RCV000423111RCV000423624RCV000425869RCV000444717RCV000232050RCV000433936RCV000434300RCV000435063RCV000444814RCV000425193RCV000439456RCV000440244RCV000442230RCV000785544RCV001527468RCV002490776RCV001310212RCV001579295RCV003460829RCV003162539RCV003407499RCV003997298
NM_000546.6(TP53):c.842A>C (p.Asp281Ala) SNV
Somatic		 Chr17:7673778 Likely pathogenic Uterine carcinosarcoma
Gastric adenocarcinoma
Breast neoplasm
Squamous cell carcinoma of the head and neck
Hepatocellular carcinoma
Squamous cell carcinoma of the skin
Lung adenocarcinoma
Multiple myeloma
Pancreatic adenocarcinoma
Neuroblastoma
B-cell chronic lymphocytic leukemia
Papillary renal cell carcinoma type 1
Malignant neoplasm of body of uterus
Malignant melanoma of skin
Glioblastoma
Squamous cell lung carcinoma
Ovarian serous cystadenocarcinoma
Transitional cell carcinoma of the bladder
Adrenocortical carcinoma, hereditary		 Criteria Provided
Single Submitter
 CA16603011 rs_587781525

2 SubmittersRCV000417517RCV000419849RCV000420104RCV000422679RCV000424893RCV000427537RCV000425979RCV000429708RCV000430790RCV000433406RCV000435611RCV000435784RCV000438210RCV000440361RCV000440602RCV000442214RCV000443934RCV000442965RCV003463826
NM_000546.6(TP53):c.856G>C (p.Glu286Gln) SNV
Germline/somatic		 Chr17:7673764 Conflicting classifications of pathogenicity Lung adenocarcinoma
Squamous cell carcinoma of the skin
Squamous cell carcinoma of the head and neck
Acute myeloid leukemia
Malignant melanoma of skin
Gastric adenocarcinoma
Carcinoma of esophagus
Transitional cell carcinoma of the bladder
Small cell lung carcinoma
Neoplasm of the large intestine
Pancreatic adenocarcinoma
Ovarian serous cystadenocarcinoma
Neoplasm of brain
Breast neoplasm
Hepatocellular carcinoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16603013 rs_786201059

3 SubmittersRCV000418557RCV000418192RCV000422952RCV000423598RCV000425968RCV000428400RCV000428433RCV000431245RCV000433190RCV000435596RCV000436841RCV000435774RCV000442043RCV000441313RCV000441497RCV001048274RCV004022211
NM_000546.6(TP53):c.824G>T (p.Cys275Phe) SNV
Germline/somatic		 Chr17:7673796 Pathogenic Lung adenocarcinoma
Pancreatic adenocarcinoma
Neoplasm of brain
Breast neoplasm
Papillary renal cell carcinoma type 1
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Carcinoma of esophagus
Malignant melanoma of skin
Neoplasm of the large intestine
Adrenal cortex carcinoma
Multiple myeloma
Transitional cell carcinoma of the bladder
Glioblastoma
Hepatocellular carcinoma
B-cell chronic lymphocytic leukemia
Neoplasm of ovary
Li-Fraumeni syndrome		 Criteria Provided
Single Submitter
 CA16603006 rs_863224451

3 SubmittersRCV000418840RCV000420903RCV000423743RCV000425095RCV000423016RCV000429558RCV000428868RCV000434455RCV000430324RCV000440235RCV000441009RCV000431612RCV000432328RCV000441652RCV000436058RCV000442601RCV000785323RCV001861482
NM_000546.6(TP53):c.857A>C (p.Glu286Ala) SNV
Somatic		 Chr17:7673763 Likely pathogenic Lung adenocarcinoma
Neoplasm of brain
Neoplasm of the large intestine
Acute myeloid leukemia
Hepatocellular carcinoma
Pancreatic adenocarcinoma
Transitional cell carcinoma of the bladder
Squamous cell carcinoma of the head and neck
Breast neoplasm
Malignant melanoma of skin
Gastric adenocarcinoma
Carcinoma of esophagus
Ovarian serous cystadenocarcinoma
Small cell lung carcinoma
Squamous cell carcinoma of the skin
Li-Fraumeni syndrome 1		 Criteria Provided
Single Submitter
 CA16603015 rs_1057519985

2 SubmittersRCV000419358RCV000421888RCV000421331RCV000423414RCV000424971RCV000427672RCV000430190RCV000431576RCV000433092RCV000434375RCV000439537RCV000437905RCV000443500RCV000443287RCV000444095RCV004022212
NM_000546.6(TP53):c.809T>C (p.Phe270Ser) SNV
Germline/somatic		 Chr17:7673811 Pathogenic/Likely pathogenic Gastric adenocarcinoma
Lung adenocarcinoma
Carcinoma of esophagus
Squamous cell carcinoma of the head and neck
Squamous cell lung carcinoma
Ovarian serous cystadenocarcinoma
Neoplasm of brain
Breast neoplasm
Squamous cell carcinoma of the skin
Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603016 rs_1057519986

5 SubmittersRCV000418965RCV000419602RCV000421032RCV000426140RCV000429241RCV000429016RCV000437299RCV000439252RCV000438621RCV000481465RCV000824076RCV002289522RCV002289523
NM_000546.6(TP53):c.810T>G (p.Phe270Leu) SNV
Somatic		 Chr17:7673810 Likely pathogenic Breast neoplasm
Carcinoma of esophagus
Neoplasm of brain
Ovarian serous cystadenocarcinoma
Squamous cell lung carcinoma
Gastric adenocarcinoma
Lung adenocarcinoma
Squamous cell carcinoma of the skin
Squamous cell carcinoma of the head and neck		 No Assertion Criteria Provided
 CA16603017 rs_1057519987

1 SubmittersRCV000423824RCV000426634RCV000426445RCV000432152RCV000433231RCV000434093RCV000438906RCV000442796RCV000443660
NM_000546.6(TP53):c.808T>A (p.Phe270Ile) SNV
Germline/somatic		 Chr17:7673812 Conflicting classifications of pathogenicity Lung adenocarcinoma
Squamous cell lung carcinoma
Carcinoma of esophagus
Breast neoplasm
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the skin
Squamous cell carcinoma of the head and neck
Neoplasm of brain
Neoplasm of ovary
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16603018 rs_1057519988

4 SubmittersRCV000417655RCV000418371RCV000417883RCV000430718RCV000427865RCV000425994RCV000438999RCV000436003RCV000436185RCV000785257RCV001362325RCV002418243
NM_000546.6(TP53):c.880G>T (p.Glu294Ter) SNV
Germline/somatic		 Chr17:7673740 Pathogenic Condition: not provided
Neoplasm of ovary
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16608665 rs_1057520607

4 SubmittersRCV000433836RCV001527467RCV004022313RCV002374641
NM_000546.6(TP53):c.809T>G (p.Phe270Cys) SNV
Germline/somatic		 Chr17:7673811 Conflicting classifications of pathogenicity Ovarian serous cystadenocarcinoma
Lung adenocarcinoma
Gastric adenocarcinoma
Squamous cell carcinoma of the skin
Breast neoplasm
Neoplasm of brain
Squamous cell lung carcinoma
Carcinoma of esophagus
Squamous cell carcinoma of the head and neck
Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16603019 rs_1057519986

6 SubmittersRCV000422121RCV000422786RCV000424190RCV000432351RCV000434574RCV000433925RCV000440467RCV000441020RCV000443933RCV001805037RCV002508212RCV002524696RCV003470375RCV004022213
NM_000546.6(TP53):c.808T>G (p.Phe270Val) SNV
Germline/somatic		 Chr17:7673812 Pathogenic Squamous cell lung carcinoma
Squamous cell carcinoma of the skin
Squamous cell carcinoma of the head and neck
Carcinoma of esophagus
Lung adenocarcinoma
Gastric adenocarcinoma
Neoplasm of brain
Ovarian serous cystadenocarcinoma
Breast neoplasm
Hereditary cancer-predisposing syndrome		 Criteria Provided
Single Submitter
 CA16603020 rs_1057519988

2 SubmittersRCV000420461RCV000425222RCV000425855RCV000430671RCV000435260RCV000435460RCV000438306RCV000443062RCV000443210RCV001027160
NM_000546.6(TP53):c.730G>T (p.Gly244Cys) SNV
Germline/somatic		 Chr17:7674233 Conflicting classifications of pathogenicity Neoplasm of the large intestine
Glioblastoma
Hepatocellular carcinoma
Neoplasm of brain
Squamous cell lung carcinoma
Small cell lung carcinoma
Malignant neoplasm of body of uterus
Ovarian serous cystadenocarcinoma
Uterine carcinosarcoma
Squamous cell carcinoma of the head and neck
Carcinoma of esophagus
Lung adenocarcinoma
Gastric adenocarcinoma
Li-Fraumeni syndrome
Familial cancer of breast
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16603021 rs_1057519989

5 SubmittersRCV000419449RCV000418385RCV000422508RCV000427774RCV000430162RCV000427875RCV000429067RCV000438569RCV000436692RCV000437805RCV000437360RCV000439724RCV000443459RCV000538079RCV001270273RCV001567979RCV002379286
NM_000546.6(TP53):c.730G>A (p.Gly244Ser) SNV
Germline/somatic		 Chr17:7674233 Pathogenic Lung adenocarcinoma
Ovarian serous cystadenocarcinoma
Small cell lung carcinoma
Squamous cell lung carcinoma
Uterine carcinosarcoma
Neoplasm of brain
Carcinoma of esophagus
Hepatocellular carcinoma
Glioblastoma
Malignant neoplasm of body of uterus
Squamous cell carcinoma of the head and neck
Gastric adenocarcinoma
Neoplasm of the large intestine
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Rhabdomyosarcoma
Li-Fraumeni syndrome 1
Gastric cancer
Adrenocortical carcinoma, hereditary
Malignant tumor of urinary bladder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603022 rs_1057519989

9 SubmittersRCV000418805RCV000421362RCV000425382RCV000423748RCV000426057RCV000426513RCV000432031RCV000433704RCV000436060RCV000434459RCV000441006RCV000442909RCV000443654RCV000492366RCV000633372RCV001257520RCV002289524RCV003168616RCV003476007RCV003332172
NM_000546.6(TP53):c.919+7A>C SNV
Germline		 Chr17:7673694 Conflicting classifications of pathogenicity not specified
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
TP53-related disorder		 Criteria Provided
Conflicting Classifications
 CA001336 rs_199527475

7 SubmittersRCV000421770RCV000459858RCV000580655RCV002289568RCV003942414
NM_000546.6(TP53):c.528C>G (p.Cys176Trp) SNV
Germline/somatic		 Chr17:7675084 Conflicting classifications of pathogenicity Squamous cell carcinoma of the head and neck
Gastric adenocarcinoma
Papillary renal cell carcinoma type 1
Prostate adenocarcinoma
Carcinoma of esophagus
Neoplasm of brain
Transitional cell carcinoma of the bladder
Neoplasm of the large intestine
Lung adenocarcinoma
Breast neoplasm
Hepatocellular carcinoma
Ovarian serous cystadenocarcinoma
Acute myeloid leukemia
Pancreatic adenocarcinoma
Squamous cell lung carcinoma
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Li-Fraumeni syndrome
TP53-related disorder
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16602998 rs_1057519980

7 SubmittersRCV000418563RCV000422732RCV000424653RCV000421434RCV000424249RCV000429475RCV000429952RCV000430137RCV000434070RCV000440822RCV000432087RCV000439276RCV000445065RCV000441518RCV000442369RCV000567103RCV000785243RCV000530055RCV003401413RCV004022205
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) SNV
Germline/somatic		 Chr17:7674229 Pathogenic/Likely pathogenic Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Prostate adenocarcinoma
Glioblastoma
Brainstem glioma
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Breast neoplasm
Neoplasm of brain
Squamous cell carcinoma of the head and neck
Pancreatic adenocarcinoma
Lung adenocarcinoma
Transitional cell carcinoma of the bladder
Squamous cell lung carcinoma
Li-Fraumeni syndrome
Neoplasm of the large intestine
Uterine carcinosarcoma
Hepatocellular carcinoma
Carcinoma of esophagus
Neoplasm of ovary
Condition: not provided
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000371 rs_121912656

10 SubmittersRCV000013149RCV000164465RCV000422520RCV000427250RCV000432021RCV000444212RCV000419718RCV000421831RCV000426192RCV000429017RCV000421349RCV000436871RCV000440814RCV000444304RCV000206683RCV000431450RCV000437916RCV000439739RCV000443515RCV000785472RCV000986053RCV003473082
NM_000546.6(TP53):c.421T>C (p.Cys141Arg) SNV
Germline/somatic		 Chr17:7675191 Conflicting classifications of pathogenicity Neoplasm of brain
Acute myeloid leukemia
Lung adenocarcinoma
Multiple myeloma
Neoplasm of the large intestine
Papillary renal cell carcinoma type 1
Squamous cell lung carcinoma
Breast neoplasm
Malignant neoplasm of body of uterus
Prostate adenocarcinoma
Squamous cell carcinoma of the head and neck
Pancreatic adenocarcinoma
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16602991 rs_1057519978

3 SubmittersRCV000419723RCV000420817RCV000418678RCV000423623RCV000425407RCV000432161RCV000430017RCV000437414RCV000431037RCV000436190RCV000440220RCV000441312RCV001861481RCV002328907
NM_000546.6(TP53):c.421T>G (p.Cys141Gly) SNV
Somatic		 Chr17:7675191 Likely pathogenic Acute myeloid leukemia
Neoplasm of the large intestine
Lung adenocarcinoma
Multiple myeloma
Pancreatic adenocarcinoma
Squamous cell carcinoma of the head and neck
Malignant neoplasm of body of uterus
Breast neoplasm
Papillary renal cell carcinoma type 1
Prostate adenocarcinoma
Squamous cell lung carcinoma
Neoplasm of brain		 No Assertion Criteria Provided
 CA16602992 rs_1057519978

1 SubmittersRCV000419137RCV000420961RCV000425541RCV000426677RCV000427661RCV000432339RCV000432969RCV000436820RCV000437911RCV000438636RCV000444521RCV000444835
NM_000546.6(TP53):c.421T>A (p.Cys141Ser) SNV
Somatic		 Chr17:7675191 Likely pathogenic Breast neoplasm
Papillary renal cell carcinoma type 1
Malignant neoplasm of body of uterus
Neoplasm of brain
Squamous cell carcinoma of the head and neck
Acute myeloid leukemia
Lung adenocarcinoma
Pancreatic adenocarcinoma
Neoplasm of the large intestine
Prostate adenocarcinoma
Squamous cell lung carcinoma
Multiple myeloma		 No Assertion Criteria Provided
 CA16602993 rs_1057519978

1 SubmittersRCV000417913RCV000420314RCV000422574RCV000421892RCV000428237RCV000430556RCV000432852RCV000433900RCV000438490RCV000439057RCV000439533RCV000442038
NM_000546.6(TP53):c.920-1G>C SNV
Germline		 Chr17:7673609 Pathogenic Li-Fraumeni syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA16615686 rs_587781702

2 SubmittersRCV000458070RCV003151060
NM_000546.6(TP53):c.422G>T (p.Cys141Phe) SNV
Germline/somatic		 Chr17:7675190 Conflicting classifications of pathogenicity Acute myeloid leukemia
Papillary renal cell carcinoma type 1
Malignant neoplasm of body of uterus
Lung adenocarcinoma
Prostate adenocarcinoma
Squamous cell lung carcinoma
Breast neoplasm
Multiple myeloma
Squamous cell carcinoma of the head and neck
Neoplasm of brain
Neoplasm of the large intestine
Pancreatic adenocarcinoma
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA16602994 rs_587781288

3 SubmittersRCV000417404RCV000418478RCV000423030RCV000425219RCV000427605RCV000429427RCV000433302RCV000436176RCV000435499RCV000437866RCV000444376RCV000445236RCV001214540
NM_000546.6(TP53):c.993+8G>A SNV
Germline		 Chr17:7673527 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16615685 rs_1060504163

2 SubmittersRCV000471374RCV001127284
NM_000546.6(TP53):c.527G>T (p.Cys176Phe) SNV
Germline/somatic		 Chr17:7675085 Pathogenic/Likely pathogenic Neoplasm of the large intestine
Gastric adenocarcinoma
Prostate adenocarcinoma
Transitional cell carcinoma of the bladder
Lung adenocarcinoma
Papillary renal cell carcinoma type 1
Breast neoplasm
Pancreatic adenocarcinoma
Hepatocellular carcinoma
Squamous cell lung carcinoma
Squamous cell carcinoma of the head and neck
Neoplasm of brain
Carcinoma of esophagus
Acute myeloid leukemia
Ovarian serous cystadenocarcinoma
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16602995 rs_786202962

4 SubmittersRCV000423829RCV000424063RCV000423447RCV000425950RCV000424490RCV000429162RCV000429805RCV000431923RCV000435143RCV000434780RCV000440706RCV000440448RCV000442295RCV000445093RCV000445073RCV001244047RCV002348142RCV004022202
NM_000546.6(TP53):c.526T>A (p.Cys176Ser) SNV
Germline/somatic		 Chr17:7675086 Conflicting classifications of pathogenicity Acute myeloid leukemia
Lung adenocarcinoma
Gastric adenocarcinoma
Neoplasm of brain
Papillary renal cell carcinoma type 1
Breast neoplasm
Carcinoma of esophagus
Squamous cell lung carcinoma
Squamous cell carcinoma of the head and neck
Prostate adenocarcinoma
Hepatocellular carcinoma
Pancreatic adenocarcinoma
Transitional cell carcinoma of the bladder
Ovarian serous cystadenocarcinoma
Neoplasm of the large intestine
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16602996 rs_967461896

5 SubmittersRCV000417611RCV000420420RCV000420646RCV000425621RCV000428308RCV000426275RCV000427846RCV000428520RCV000433667RCV000436945RCV000439156RCV000437617RCV000439650RCV000442242RCV000444511RCV000492644RCV001060393RCV001352918RCV004022203
NM_000546.6(TP53):c.526T>G (p.Cys176Gly) SNV
Germline/somatic		 Chr17:7675086 Conflicting classifications of pathogenicity Transitional cell carcinoma of the bladder
Prostate adenocarcinoma
Neoplasm of the large intestine
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Neoplasm of brain
Pancreatic adenocarcinoma
Squamous cell carcinoma of the head and neck
Papillary renal cell carcinoma type 1
Gastric adenocarcinoma
Acute myeloid leukemia
Breast neoplasm
Lung adenocarcinoma
Squamous cell lung carcinoma
Carcinoma of esophagus
Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16602997 rs_967461896

5 SubmittersRCV000417784RCV000417996RCV000423257RCV000422633RCV000425147RCV000426543RCV000427160RCV000432450RCV000434994RCV000434565RCV000433975RCV000442522RCV000437830RCV000439618RCV000445223RCV000785535RCV001023834RCV003621529RCV004022204
NM_000546.6(TP53):c.951G>T (p.Gln317His) SNV
Germline		 Chr17:7673577 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16615689 rs_1060501199

2 SubmittersRCV000477030RCV002374764
NM_000546.6(TP53):c.763A>T (p.Ile255Phe) SNV
Germline/somatic		 Chr17:7674200 Conflicting classifications of pathogenicity Neoplasm of brain
Breast neoplasm
Lung adenocarcinoma
Carcinoma of esophagus
Glioblastoma
B-cell chronic lymphocytic leukemia
Pancreatic adenocarcinoma
Li-Fraumeni syndrome
Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16603041 rs_1057519995

5 SubmittersRCV000418615RCV000428426RCV000425759RCV000436027RCV000435616RCV000436676RCV000444896RCV001301950RCV000785451RCV002392946RCV004022222
NM_000546.6(TP53):c.526T>C (p.Cys176Arg) SNV
Germline/somatic		 Chr17:7675086 Conflicting classifications of pathogenicity Neoplasm of brain
Papillary renal cell carcinoma type 1
Breast neoplasm
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Lung adenocarcinoma
Pancreatic adenocarcinoma
Neoplasm of the large intestine
Prostate adenocarcinoma
Squamous cell lung carcinoma
Transitional cell carcinoma of the bladder
Carcinoma of esophagus
Hepatocellular carcinoma
Squamous cell carcinoma of the head and neck
Acute myeloid leukemia
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16602999 rs_967461896

6 SubmittersRCV000419497RCV000419681RCV000421755RCV000423671RCV000425379RCV000430429RCV000431070RCV000436082RCV000431573RCV000436752RCV000430876RCV000438958RCV000436236RCV000444713RCV000441815RCV001023833RCV001044520RCV000785469RCV004022206
NM_000546.6(TP53):c.96+15T>C SNV
Germline		 Chr17:7676367 Conflicting classifications of pathogenicity not specified
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA16608670 rs_200053580

3 SubmittersRCV000419666RCV001124309RCV002061601
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) SNV
Germline/somatic		 Chr17:7674238 Pathogenic/Likely pathogenic Li-fraumeni-like syndrome
Hereditary cancer-predisposing syndrome
Gastric adenocarcinoma
Transitional cell carcinoma of the bladder
Squamous cell carcinoma of the head and neck
Hepatocellular carcinoma
Glioblastoma
B-cell chronic lymphocytic leukemia
Uterine carcinosarcoma
Lung adenocarcinoma
Li-Fraumeni syndrome
Squamous cell lung carcinoma
Neoplasm of ovary
Breast neoplasm
Carcinoma of esophagus
Li-Fraumeni syndrome 1
Condition: not provided
Familial cancer of breast		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000361 rs_121912655

11 SubmittersRCV000013148RCV000129809RCV000419614RCV000424935RCV000432119RCV000436867RCV000442015RCV000426292RCV000430302RCV000425602RCV000231770RCV000419041RCV000785282RCV000436295RCV000440992RCV002288484RCV003314552RCV002247332
NM_000546.6(TP53):c.713G>T (p.Cys238Phe) SNV
Germline/somatic		 Chr17:7674250 Pathogenic/Likely pathogenic Malignant neoplasm of body of uterus
Breast neoplasm
Pancreatic adenocarcinoma
Multiple myeloma
Lung adenocarcinoma
Neoplasm of brain
Squamous cell carcinoma of the head and neck
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Uterine carcinosarcoma
B-cell chronic lymphocytic leukemia
Hepatocellular carcinoma
Neoplasm of uterine cervix
Neoplasm of the large intestine
Carcinoma of esophagus
Glioblastoma
Transitional cell carcinoma of the bladder
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603000 rs_730882005

5 SubmittersRCV000418555RCV000417498RCV000422481RCV000422719RCV000425072RCV000427235RCV000427531RCV000428817RCV000433989RCV000432745RCV000435343RCV000433862RCV000435149RCV000439349RCV000440369RCV000442469RCV000444988RCV000473420RCV002365459RCV004022207
NM_000546.6(TP53):c.713G>C (p.Cys238Ser) SNV
Germline/somatic		 Chr17:7674250 Pathogenic/Likely pathogenic Neoplasm of brain
Squamous cell carcinoma of the head and neck
Malignant neoplasm of body of uterus
Gastric adenocarcinoma
B-cell chronic lymphocytic leukemia
Transitional cell carcinoma of the bladder
Glioblastoma
Uterine carcinosarcoma
Neoplasm of the large intestine
Breast neoplasm
Hepatocellular carcinoma
Carcinoma of esophagus
Neoplasm of uterine cervix
Ovarian serous cystadenocarcinoma
Pancreatic adenocarcinoma
Multiple myeloma
Lung adenocarcinoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603001 rs_730882005

7 SubmittersRCV000418923RCV000419485RCV000423226RCV000424531RCV000425465RCV000425867RCV000424302RCV000429749RCV000432222RCV000434344RCV000435732RCV000434584RCV000440842RCV000439773RCV000441115RCV000442527RCV000442617RCV001067780RCV001523834RCV001551247RCV002289520
NM_000546.6(TP53):c.712T>C (p.Cys238Arg) SNV
Germline/somatic		 Chr17:7674251 Pathogenic/Likely pathogenic B-cell chronic lymphocytic leukemia
Hepatocellular carcinoma
Glioblastoma
Ovarian serous cystadenocarcinoma
Neoplasm of uterine cervix
Multiple myeloma
Neoplasm of the large intestine
Pancreatic adenocarcinoma
Malignant neoplasm of body of uterus
Gastric adenocarcinoma
Carcinoma of esophagus
Uterine carcinosarcoma
Squamous cell carcinoma of the head and neck
Hereditary cancer-predisposing syndrome
Lung adenocarcinoma
Transitional cell carcinoma of the bladder
Neoplasm of brain
Breast neoplasm
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603002 rs_1057519981

5 SubmittersRCV000421933RCV000428210RCV000419348RCV000430482RCV000420409RCV000421679RCV000437199RCV000424052RCV000437018RCV000426193RCV000438447RCV000430655RCV000433046RCV000492666RCV000441834RCV000442237RCV000431946RCV000441879RCV000812726RCV002289521
NM_000546.6(TP53):c.712T>G (p.Cys238Gly) SNV
Germline/somatic		 Chr17:7674251 Pathogenic Lung adenocarcinoma
Carcinoma of esophagus
Uterine carcinosarcoma
Transitional cell carcinoma of the bladder
Neoplasm of uterine cervix
Neoplasm of the large intestine
Pancreatic adenocarcinoma
Ovarian serous cystadenocarcinoma
B-cell chronic lymphocytic leukemia
Multiple myeloma
Squamous cell carcinoma of the head and neck
Glioblastoma
Gastric adenocarcinoma
Malignant neoplasm of body of uterus
Neoplasm of brain
Hepatocellular carcinoma
Breast neoplasm
Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603003 rs_1057519981

4 SubmittersRCV000417486RCV000422044RCV000420677RCV000423396RCV000422283RCV000427246RCV000428630RCV000428804RCV000430919RCV000433478RCV000437321RCV000438876RCV000439946RCV000435170RCV000443356RCV000444792RCV000437476RCV000785550RCV002365460RCV001390630
NM_000546.6(TP53):c.725G>T (p.Cys242Phe) SNV
Germline/somatic		 Chr17:7674238 Conflicting classifications of pathogenicity Breast neoplasm
Uterine carcinosarcoma
Glioblastoma
Squamous cell lung carcinoma
Hepatocellular carcinoma
B-cell chronic lymphocytic leukemia
Transitional cell carcinoma of the bladder
Lung adenocarcinoma
Carcinoma of esophagus
Gastric adenocarcinoma
Squamous cell carcinoma of the head and neck
Neoplasm of ovary
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA501203 rs_121912655

4 SubmittersRCV000417879RCV000418512RCV000424746RCV000425032RCV000427153RCV000433671RCV000435743RCV000442305RCV000435022RCV000438269RCV000442449RCV000785473RCV000688366RCV002379285
NM_000546.6(TP53):c.724T>A (p.Cys242Ser) SNV
Germline/somatic		 Chr17:7674239 Conflicting classifications of pathogenicity B-cell chronic lymphocytic leukemia
Squamous cell lung carcinoma
Breast neoplasm
Lung adenocarcinoma
Squamous cell carcinoma of the head and neck
Hepatocellular carcinoma
Carcinoma of esophagus
Gastric adenocarcinoma
Glioblastoma
Uterine carcinosarcoma
Transitional cell carcinoma of the bladder
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA16603004 rs_1057519982

5 SubmittersRCV000419559RCV000423712RCV000424356RCV000430244RCV000429187RCV000431566RCV000434352RCV000439881RCV000441578RCV000440943RCV000442629RCV000662594RCV001026200RCV001325155
NM_000546.6(TP53):c.726C>G (p.Cys242Trp) SNV
Germline/somatic		 Chr17:7674237 Pathogenic Squamous cell carcinoma of the head and neck
Lung adenocarcinoma
Hepatocellular carcinoma
Glioblastoma
B-cell chronic lymphocytic leukemia
Squamous cell lung carcinoma
Carcinoma of esophagus
Uterine carcinosarcoma
Gastric adenocarcinoma
Breast neoplasm
Transitional cell carcinoma of the bladder
Li-Fraumeni syndrome		 Criteria Provided
Single Submitter
 CA16603005 rs_375874539

2 SubmittersRCV000420256RCV000421654RCV000420917RCV000422298RCV000431682RCV000430938RCV000432990RCV000432344RCV000438862RCV000442778RCV000441640RCV003621530
NM_000546.6(TP53):c.673-1G>A SNV
Germline		 Chr17:7674291 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16607882 rs_878854073

6 SubmittersRCV000418491RCV000708630RCV001034938RCV002289552
NM_000546.6(TP53):c.537T>G (p.His179Gln) SNV
Germline/somatic		 Chr17:7675075 Pathogenic/Likely pathogenic Acute myeloid leukemia
Squamous cell carcinoma of the skin
Gallbladder carcinoma
Squamous cell lung carcinoma
Malignant melanoma of skin
Neoplasm of brain
Gastric adenocarcinoma
Glioblastoma
Lung adenocarcinoma
Malignant neoplasm of body of uterus
Small cell lung carcinoma
Pancreatic adenocarcinoma
Ovarian serous cystadenocarcinoma
Squamous cell carcinoma of the head and neck
Neoplasm of the large intestine
Hepatocellular carcinoma
Uterine carcinosarcoma
Breast neoplasm
Carcinoma of esophagus
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603028 rs_876660821

7 SubmittersRCV000419975RCV000420594RCV000421045RCV000421558RCV000423857RCV000425641RCV000425896RCV000428479RCV000431364RCV000429821RCV000431267RCV000436580RCV000437195RCV000436952RCV000439103RCV000441082RCV000444017RCV000444951RCV000444976RCV000815181RCV001293868RCV002264935RCV002289527
NM_000546.6(TP53):c.1101-3C>T SNV
Germline		 Chr17:7669693 Conflicting classifications of pathogenicity not specified
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16608655 rs_1057521167

4 SubmittersRCV000418865RCV001861512RCV001805046
NM_000546.6(TP53):c.536A>T (p.His179Leu) SNV
Germline/somatic		 Chr17:7675076 Conflicting classifications of pathogenicity Glioblastoma
Squamous cell carcinoma of the head and neck
Carcinoma of esophagus
Breast neoplasm
Small cell lung carcinoma
Uterine carcinosarcoma
Gallbladder carcinoma
Squamous cell carcinoma of the skin
Acute myeloid leukemia
Gastric adenocarcinoma
Hepatocellular carcinoma
Ovarian serous cystadenocarcinoma
Lung adenocarcinoma
Pancreatic adenocarcinoma
Neoplasm of brain
Malignant neoplasm of body of uterus
Malignant melanoma of skin
Squamous cell lung carcinoma
Li-Fraumeni syndrome
Neoplasm of the large intestine
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16603029 rs_1057519991

5 SubmittersRCV000421837RCV000429543RCV000426806RCV000427517RCV000433134RCV000418129RCV000420124RCV000432531RCV000438217RCV000439318RCV000427330RCV000438631RCV000444683RCV000418835RCV000427941RCV000439930RCV000432746RCV000435347RCV000705316RCV000443637RCV003476009RCV004022217RCV002348143
NM_000546.6(TP53):c.-12C>T SNV
Germline		 Chr17:7676606 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
12 conditions		 Criteria Provided
Conflicting Classifications
 CA004012 rs_375229869

5 SubmittersRCV000434247RCV000583581RCV002289573RCV002488960
NM_000546.6(TP53):c.535C>A (p.His179Asn) SNV
Germline/somatic		 Chr17:7675077 Conflicting classifications of pathogenicity Uterine carcinosarcoma
Malignant neoplasm of body of uterus
Lung adenocarcinoma
Small cell lung carcinoma
Carcinoma of esophagus
Squamous cell carcinoma of the skin
Neoplasm of the large intestine
Neoplasm of brain
Acute myeloid leukemia
Pancreatic adenocarcinoma
Hepatocellular carcinoma
Glioblastoma
Squamous cell carcinoma of the head and neck
Gallbladder carcinoma
Ovarian serous cystadenocarcinoma
Malignant melanoma of skin
Gastric adenocarcinoma
Breast neoplasm
Squamous cell lung carcinoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16603030 rs_587780070

5 SubmittersRCV000419091RCV000418067RCV000419301RCV000422109RCV000422797RCV000424599RCV000424807RCV000427824RCV000429415RCV000430449RCV000433706RCV000434154RCV000433494RCV000435925RCV000434865RCV000440508RCV000440898RCV000445154RCV000444321RCV000564826RCV000695193RCV001575036RCV004022218
NM_000546.6(TP53):c.672+9T>C SNV
Germline		 Chr17:7674850 Conflicting classifications of pathogenicity not specified
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA16607883 rs_1057521030

4 SubmittersRCV000425870RCV001424406
NM_000546.6(TP53):c.535C>G (p.His179Asp) SNV
Germline/somatic		 Chr17:7675077 Conflicting classifications of pathogenicity Small cell lung carcinoma
Neoplasm of the large intestine
Uterine carcinosarcoma
Ovarian serous cystadenocarcinoma
Lung adenocarcinoma
Gastric adenocarcinoma
Gallbladder carcinoma
Hepatocellular carcinoma
Acute myeloid leukemia
Breast neoplasm
Glioblastoma
Squamous cell carcinoma of the head and neck
Carcinoma of esophagus
Malignant melanoma of skin
Pancreatic adenocarcinoma
Squamous cell carcinoma of the skin
Squamous cell lung carcinoma
Neoplasm of brain
Malignant neoplasm of body of uterus
Li-Fraumeni syndrome
not specified
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16603031 rs_587780070

6 SubmittersRCV000419821RCV000421694RCV000424030RCV000423899RCV000425288RCV000430072RCV000431709RCV000431956RCV000437679RCV000436622RCV000441771RCV000444860RCV000444992RCV000420116RCV000426383RCV000430612RCV000436443RCV000440707RCV000443866RCV001851020RCV002465649RCV003335320RCV003470376RCV002348144
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) SNV
Germline/somatic		 Chr17:7674893 Pathogenic Li-Fraumeni syndrome
not specified
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Squamous cell carcinoma of the skin
Glioblastoma
Carcinoma of esophagus
Neoplasm of the large intestine
Adrenal cortex carcinoma
Condition: not provided
Malignant melanoma of skin
Prostate adenocarcinoma
Lung adenocarcinoma
Breast neoplasm
Malignant neoplasm of body of uterus
Adenoid cystic carcinoma
Papillary renal cell carcinoma type 1
Ovarian serous cystadenocarcinoma
Gastric adenocarcinoma
Neoplasm of brain
Pancreatic adenocarcinoma
Squamous cell carcinoma of the head and neck
Hepatocellular carcinoma
Uterine carcinosarcoma
Nasopharyngeal neoplasm
Transitional cell carcinoma of the bladder
Squamous cell lung carcinoma
Poly (ADP-Ribose) polymerase inhibitor response
Lip and oral cavity carcinoma
Breast and/or ovarian cancer
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000302 rs_587778720

23 SubmittersRCV000123099RCV000122176RCV000130072RCV000144664RCV000420459RCV000420595RCV000424188RCV000430755RCV000441015RCV000420734RCV000428223RCV000430946RCV000432016RCV000436981RCV000443346RCV000444201RCV000425846RCV000427005RCV000430601RCV000438230RCV000438582RCV000419636RCV000420908RCV000422008RCV000432438RCV000437236RCV000444077RCV000626448RCV001255672RCV001798386RCV003460862
NM_000546.6(TP53):c.745A>T (p.Arg249Trp) SNV
Germline/somatic		 Chr17:7674218 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Prostate adenocarcinoma
Malignant neoplasm of body of uterus
Small cell lung carcinoma
Carcinoma of esophagus
Squamous cell carcinoma of the head and neck
Uterine carcinosarcoma
Lung adenocarcinoma
Pancreatic adenocarcinoma
Squamous cell carcinoma of the skin
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Gastric adenocarcinoma
Squamous cell lung carcinoma
Acute myeloid leukemia
Glioblastoma
Medulloblastoma
Li-Fraumeni syndrome
Condition: not provided
Adrenocortical carcinoma, hereditary
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA000389 rs_587782082

6 SubmittersRCV000130578RCV000431276RCV000432948RCV000435888RCV000417537RCV000443796RCV000418238RCV000423307RCV000433563RCV000435249RCV000424980RCV000426167RCV000444809RCV000425504RCV000432429RCV000434278RCV000440994RCV002514731RCV003237740RCV003460931RCV004019741
NM_000546.6(TP53):c.536A>C (p.His179Pro) SNV
Germline/somatic		 Chr17:7675076 Conflicting classifications of pathogenicity Malignant neoplasm of body of uterus
Squamous cell lung carcinoma
Pancreatic adenocarcinoma
Uterine carcinosarcoma
Glioblastoma
Squamous cell carcinoma of the head and neck
Small cell lung carcinoma
Acute myeloid leukemia
Neoplasm of brain
Carcinoma of esophagus
Squamous cell carcinoma of the skin
Malignant melanoma of skin
Breast neoplasm
Gallbladder carcinoma
Hepatocellular carcinoma
Neoplasm of the large intestine
Ovarian serous cystadenocarcinoma
Lung adenocarcinoma
Gastric adenocarcinoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA16603032 rs_1057519991

3 SubmittersRCV000420510RCV000421224RCV000421433RCV000422328RCV000426919RCV000427172RCV000427925RCV000428125RCV000431234RCV000432547RCV000433456RCV000434884RCV000437164RCV000439058RCV000438275RCV000441519RCV000444604RCV000444694RCV000443703RCV001023982RCV001861483
NM_000546.6(TP53):c.731G>T (p.Gly244Val) SNV
Somatic		 Chr17:7674232 Likely pathogenic Hepatocellular carcinoma
Neoplasm of brain
Squamous cell lung carcinoma
Glioblastoma
Squamous cell carcinoma of the head and neck
Neoplasm of the large intestine
Gastric adenocarcinoma
Malignant neoplasm of body of uterus
Lung adenocarcinoma
Uterine carcinosarcoma
Small cell lung carcinoma
Carcinoma of esophagus
Ovarian serous cystadenocarcinoma
Neoplasm of ovary
Li-Fraumeni syndrome 1		 Criteria Provided
Single Submitter
 CA16603023 rs_985033810

3 SubmittersRCV000420188RCV000417831RCV000423073RCV000424338RCV000428522RCV000430897RCV000433321RCV000433805RCV000440310RCV000441607RCV000434977RCV000443964RCV000439173RCV000785338RCV004022214
NM_000546.6(TP53):c.578A>C (p.His193Pro) SNV
Germline/somatic		 Chr17:7674953 Pathogenic Neoplasm of the large intestine
Prostate adenocarcinoma
Carcinoma of esophagus
Small cell lung carcinoma
Squamous cell lung carcinoma
Papillary renal cell carcinoma, sporadic
Gastric adenocarcinoma
Acute myeloid leukemia
Pancreatic adenocarcinoma
Brainstem glioma
Transitional cell carcinoma of the bladder
Lung adenocarcinoma
Squamous cell carcinoma of the head and neck
B-cell chronic lymphocytic leukemia
Neoplasm of brain
Breast neoplasm
Uterine carcinosarcoma
Malignant neoplasm of body of uterus
Hepatocellular carcinoma
Ovarian serous cystadenocarcinoma
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Reviewed By Expert Panel
 CA16603033 rs_786201838

5 SubmittersRCV000417520RCV000418213RCV000422374RCV000422912RCV000423516RCV000424851RCV000429577RCV000427668RCV000428197RCV000428877RCV000434205RCV000433585RCV000434933RCV000435420RCV000435566RCV000440128RCV000439568RCV000442541RCV000444985RCV000445292RCV000991151RCV001525967
NM_000546.6(TP53):c.577C>G (p.His193Asp) SNV
Germline/somatic		 Chr17:7674954 Conflicting classifications of pathogenicity Uterine carcinosarcoma
Gastric adenocarcinoma
Neoplasm of the large intestine
Squamous cell carcinoma of the head and neck
Hepatocellular carcinoma
Transitional cell carcinoma of the bladder
Lung adenocarcinoma
Brainstem glioma
Carcinoma of esophagus
Pancreatic adenocarcinoma
Small cell lung carcinoma
B-cell chronic lymphocytic leukemia
Neoplasm of brain
Breast neoplasm
Acute myeloid leukemia
Ovarian serous cystadenocarcinoma
Malignant neoplasm of body of uterus
Papillary renal cell carcinoma, sporadic
Squamous cell lung carcinoma
Prostate adenocarcinoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16603034 rs_876658468

3 SubmittersRCV000418378RCV000419005RCV000419924RCV000421156RCV000423999RCV000425273RCV000425552RCV000425919RCV000430614RCV000431849RCV000429967RCV000432462RCV000436250RCV000434704RCV000436620RCV000438391RCV000440641RCV000441340RCV000442175RCV000444718RCV003509527RCV004022219
NM_000546.6(TP53):c.717C>G (p.Asn239Lys) SNV
Germline		 Chr17:7674246 Conflicting classifications of pathogenicity Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Adrenocortical carcinoma, hereditary		 Criteria Provided
Conflicting Classifications
 CA16607851 rs_1057522275

5 SubmittersRCV000431317RCV000529909RCV000492173RCV003463830
NM_000546.6(TP53):c.577C>A (p.His193Asn) SNV
Somatic		 Chr17:7674954 Likely pathogenic Lung adenocarcinoma
Pancreatic adenocarcinoma
Uterine carcinosarcoma
Squamous cell carcinoma of the head and neck
Transitional cell carcinoma of the bladder
Papillary renal cell carcinoma, sporadic
Small cell lung carcinoma
Carcinoma of esophagus
Brainstem glioma
Breast neoplasm
Ovarian serous cystadenocarcinoma
B-cell chronic lymphocytic leukemia
Hepatocellular carcinoma
Acute myeloid leukemia
Neoplasm of the large intestine
Prostate adenocarcinoma
Malignant neoplasm of body of uterus
Gastric adenocarcinoma
Neoplasm of brain
Squamous cell lung carcinoma		 No Assertion Criteria Provided
 CA16603035 rs_876658468

1 SubmittersRCV000420192RCV000420894RCV000419544RCV000421458RCV000422179RCV000422815RCV000426753RCV000427057RCV000428079RCV000432133RCV000430888RCV000432878RCV000433595RCV000437420RCV000439335RCV000437710RCV000438671RCV000441851RCV000441629RCV000444677
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) SNV
Germline/somatic		 Chr17:7674262 Pathogenic/Likely pathogenic Condition: not provided
Li-Fraumeni syndrome
Glioblastoma
Hepatocellular carcinoma
Gastric adenocarcinoma
Small cell lung carcinoma
Neoplasm of the large intestine
Transitional cell carcinoma of the bladder
Prostate adenocarcinoma
Pancreatic adenocarcinoma
Ovarian serous cystadenocarcinoma
Squamous cell lung carcinoma
Hereditary cancer-predisposing syndrome
Breast neoplasm
Carcinoma of esophagus
Adrenal cortex carcinoma
Squamous cell carcinoma of the head and neck
Neoplasm of ovary
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000337 rs_587780073

10 SubmittersRCV000115732RCV000200601RCV000420460RCV000430670RCV000444325RCV000444475RCV000425220RCV000425854RCV000432406RCV000433924RCV000435287RCV000445147RCV000492245RCV000420651RCV000422171RCV000435258RCV000438314RCV000785536RCV001808343
NM_000546.6(TP53):c.641A>G (p.His214Arg) SNV
Germline/somatic		 Chr17:7674890 Likely pathogenic Papillary renal cell carcinoma type 1
Squamous cell lung carcinoma
Carcinoma of esophagus
Gastric adenocarcinoma
Pancreatic adenocarcinoma
Hepatocellular carcinoma
Ovarian serous cystadenocarcinoma
Glioblastoma
Transitional cell carcinoma of the bladder
Neoplasm of the large intestine
B-cell chronic lymphocytic leukemia
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome 1		 Reviewed By Expert Panel
 CA16040595 rs_1057519992

8 SubmittersRCV000417658RCV000418330RCV000422504RCV000427653RCV000429028RCV000428396RCV000429736RCV000439733RCV000434864RCV000435583RCV000445232RCV000477234RCV000492372RCV001584113RCV004022220
NM_000546.6(TP53):c.583A>T (p.Ile195Phe) SNV
Germline/somatic		 Chr17:7674948 Conflicting classifications of pathogenicity Acute myeloid leukemia
Neoplasm of brain
Breast neoplasm
Glioblastoma
Squamous cell carcinoma of the head and neck
Hepatocellular carcinoma
Uterine carcinosarcoma
Lung adenocarcinoma
Pancreatic adenocarcinoma
Carcinoma of esophagus
Gastric adenocarcinoma
Multiple myeloma
Ovarian serous cystadenocarcinoma
Squamous cell lung carcinoma
B-cell chronic lymphocytic leukemia
Neoplasm of the large intestine
Malignant tumor of esophagus
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA16603037 rs_942158624

5 SubmittersRCV000417891RCV000418677RCV000420717RCV000425266RCV000423573RCV000428137RCV000426094RCV000426791RCV000430955RCV000433525RCV000433861RCV000435534RCV000436319RCV000438337RCV000441219RCV000444892RCV001270271RCV001345722RCV002356515RCV003329275
NM_000546.6(TP53):c.584T>A (p.Ile195Asn) SNV
Germline/somatic		 Chr17:7674947 Conflicting classifications of pathogenicity Glioblastoma
Acute myeloid leukemia
Hepatocellular carcinoma
Squamous cell lung carcinoma
B-cell chronic lymphocytic leukemia
Uterine carcinosarcoma
Neoplasm of the large intestine
Carcinoma of esophagus
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Pancreatic adenocarcinoma
Multiple myeloma
Lung adenocarcinoma
Breast neoplasm
Neoplasm of brain
Li-Fraumeni syndrome
Squamous cell carcinoma of the head and neck
Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16603038 rs_760043106

5 SubmittersRCV000417492RCV000419606RCV000420311RCV000422932RCV000425779RCV000427719RCV000424894RCV000430554RCV000432578RCV000435160RCV000433212RCV000437965RCV000440578RCV000440765RCV000444669RCV000692717RCV000442006RCV000785514RCV001024599RCV002289528
NM_000546.6(TP53):c.584T>G (p.Ile195Ser) SNV
Germline/somatic		 Chr17:7674947 Conflicting classifications of pathogenicity Glioblastoma
Breast neoplasm
B-cell chronic lymphocytic leukemia
Uterine carcinosarcoma
Neoplasm of brain
Squamous cell lung carcinoma
Hepatocellular carcinoma
Acute myeloid leukemia
Pancreatic adenocarcinoma
Squamous cell carcinoma of the head and neck
Ovarian serous cystadenocarcinoma
Lung adenocarcinoma
Gastric adenocarcinoma
Carcinoma of esophagus
Multiple myeloma
Neoplasm of the large intestine
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16603039 rs_760043106

3 SubmittersRCV000421805RCV000421312RCV000422467RCV000427622RCV000426991RCV000429226RCV000431547RCV000429901RCV000432185RCV000437865RCV000437242RCV000439461RCV000440129RCV000442296RCV000442729RCV000445057RCV001184465RCV004022221
NM_000546.6(TP53):c.755T>C (p.Leu252Pro) SNV
Germline		 Chr17:7674208 Conflicting classifications of pathogenicity Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA000398 rs_121912653

3 SubmittersRCV000013143RCV001213570RCV003237412
NM_000546.6(TP53):c.734G>T (p.Gly245Val) SNV
Germline/somatic		 Chr17:7674229 Pathogenic Squamous cell carcinoma of the head and neck
Gastric adenocarcinoma
Ovarian serous cystadenocarcinoma
Neoplasm of brain
Glioblastoma
Neoplasm of the large intestine
Uterine carcinosarcoma
Transitional cell carcinoma of the bladder
Carcinoma of esophagus
Prostate adenocarcinoma
Pancreatic adenocarcinoma
Hepatocellular carcinoma
Breast neoplasm
Lung adenocarcinoma
Squamous cell lung carcinoma
Brainstem glioma
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA001743 rs_121912656

6 SubmittersRCV000418643RCV000421020RCV000421739RCV000424123RCV000426568RCV000428216RCV000429303RCV000430431RCV000434145RCV000434833RCV000435854RCV000437258RCV000439974RCV000438982RCV000443716RCV000444483RCV000558455RCV001026313RCV001548147RCV002289525RCV003476008
NM_000546.6(TP53):c.536A>G (p.His179Arg) SNV
Germline/somatic		 Chr17:7675076 Conflicting classifications of pathogenicity Glioblastoma
Hepatocellular carcinoma
Squamous cell carcinoma of the head and neck
Squamous cell lung carcinoma
Pancreatic adenocarcinoma
Neoplasm of brain
Acute myeloid leukemia
Gallbladder carcinoma
Small cell lung carcinoma
Neoplasm of the large intestine
Breast neoplasm
Uterine carcinosarcoma
Lung adenocarcinoma
Squamous cell carcinoma of the skin
Malignant neoplasm of body of uterus
Ovarian serous cystadenocarcinoma
Carcinoma of esophagus
Li-Fraumeni syndrome
Gastric adenocarcinoma
Malignant melanoma of skin
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Condition: not provided
TP53-related disorder
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16603027 rs_1057519991

9 SubmittersRCV000420789RCV000417695RCV000417973RCV000427175RCV000433943RCV000437826RCV000433227RCV000438042RCV000443785RCV000438407RCV000439947RCV000440632RCV000421853RCV000423292RCV000426502RCV000428674RCV000429260RCV000529132RCV000432550RCV000445268RCV001023983RCV000785555RCV001591055RCV003983035RCV004022216
NM_000546.6(TP53):c.730G>C (p.Gly244Arg) SNV
Somatic		 Chr17:7674233 Likely pathogenic Gastric adenocarcinoma
Neoplasm of brain
Glioblastoma
Neoplasm of the large intestine
Lung adenocarcinoma
Ovarian serous cystadenocarcinoma
Carcinoma of esophagus
Squamous cell carcinoma of the head and neck
Malignant neoplasm of body of uterus
Uterine carcinosarcoma
Hepatocellular carcinoma
Squamous cell lung carcinoma
Small cell lung carcinoma		 No Assertion Criteria Provided
 CA16603024 rs_1057519989

1 SubmittersRCV000419267RCV000420351RCV000418001RCV000424520RCV000425133RCV000425485RCV000430145RCV000431028RCV000432729RCV000435229RCV000437599RCV000438254RCV000443153
NM_000546.6(TP53):c.733G>C (p.Gly245Arg) SNV
Germline/somatic		 Chr17:7674230 Conflicting classifications of pathogenicity Squamous cell lung carcinoma
Transitional cell carcinoma of the bladder
Prostate adenocarcinoma
Gastric adenocarcinoma
Carcinoma of esophagus
Breast neoplasm
Neoplasm of the large intestine
Squamous cell carcinoma of the head and neck
Uterine carcinosarcoma
Pancreatic adenocarcinoma
Neoplasm of brain
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Lung adenocarcinoma
Brainstem glioma
Glioblastoma
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA16603025 rs_28934575

4 SubmittersRCV000418277RCV000420527RCV000419444RCV000424643RCV000425790RCV000426804RCV000429713RCV000432081RCV000430767RCV000431462RCV000436041RCV000437043RCV000439119RCV000441708RCV000444043RCV000444128RCV000633351RCV001026295RCV004022215
NM_000546.6(TP53):c.796G>C (p.Gly266Arg) SNV
Germline/somatic		 Chr17:7673824 Pathogenic Glioblastoma
Breast neoplasm
Lung adenocarcinoma
Neoplasm of the large intestine
Malignant melanoma of skin
Transitional cell carcinoma of the bladder
Ovarian serous cystadenocarcinoma
Carcinoma of esophagus
Neoplasm of brain
Squamous cell carcinoma of the skin
Squamous cell lung carcinoma
Uterine carcinosarcoma
B-cell chronic lymphocytic leukemia
Squamous cell carcinoma of the head and neck
Pancreatic adenocarcinoma
Malignant neoplasm of body of uterus
Hepatocellular carcinoma
Small cell lung carcinoma
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603026 rs_1057519990

4 SubmittersRCV000419323RCV000420436RCV000419956RCV000421105RCV000422610RCV000426767RCV000425613RCV000426755RCV000430688RCV000431795RCV000432420RCV000431342RCV000435860RCV000437000RCV000439845RCV000439191RCV000441587RCV000444661RCV000803659RCV001027017RCV002289526
NM_000546.6(TP53):c.569CTC[1] (p.Pro191del) Microsatellite
Germline		 Chr17:7674956 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA645588836 rs_1555525902

3 SubmittersRCV000557025RCV001576499RCV001024453
NM_000546.6(TP53):c.698ACTACA[1] (p.Asn235_Tyr236del) Microsatellite
Germline		 Chr17:7674253 Conflicting classifications of pathogenicity Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA000341 rs_794727846

5 SubmittersRCV000179771RCV001342607RCV002288786RCV002288785
NM_000546.6(TP53):c.861_862dup (p.Asn288fs) Microsatellite
Germline		 Chr17:7673757 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA658656534 rs_1555525158

1 SubmittersRCV000564408
NM_000546.6(TP53):c.761TCA[1] (p.Ile255del) Microsatellite
Germline		 Chr17:7674196 Pathogenic/Likely pathogenic Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16620619 rs_1064794309

5 SubmittersRCV000483701RCV000525682RCV002289629RCV002289630
NM_000546.6(TP53):c.713_714del (p.Met237_Cys238insTer) Microsatellite
Germline		 Chr17:7674248 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA645588640 rs_1555525539

1 SubmittersRCV000574740
NM_000546.6(TP53):c.1010_1011del (p.Arg337fs) Microsatellite
Germline		 Chr17:7670697 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA645369696 rs_1131691040

1 SubmittersRCV000492353
NM_000546.6(TP53):c.945_946del (p.Gln317fs) Microsatellite
Germline		 Chr17:7673581 Pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2151011929

2 SubmittersRCV001889695RCV003375410
NM_000546.6(TP53):c.646GTG[2] (p.Val218del) Microsatellite
Somatic		 Chr17:7674876 Likely pathogenic Neoplasm of ovary
Li-Fraumeni syndrome 1		 Criteria Provided
Single Submitter
 rs_1597367938

2 SubmittersRCV000785492RCV004027348
NM_000546.6(TP53):c.268_269insGCCCCTCCTGGCCCCTGCCCCTGCCCCT (p.Ser90fs) Microsatellite
Germline		 Chr17:7676100 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151040540

1 SubmittersRCV001381064
NM_000546.6(TP53):c.848_849del (p.Arg283fs) Microsatellite
Somatic		 Chr17:7673770 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
 rs_2073188904

1 SubmittersRCV001265628
NM_000546.6(TP53):c.820_821del (p.Val274fs) Microsatellite
Germline		 Chr17:7673798 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_1567547933

1 SubmittersRCV000697629
NM_000546.6(TP53):c.768_769del (p.Leu257fs) Microsatellite
Germline		 Chr17:7674193 Pathogenic Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2151020122

2 SubmittersRCV001932778RCV004041757
NM_000546.6(TP53):c.390CAA[1] (p.Asn131del) Microsatellite
Germline		 Chr17:7675216 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA10584593 rs_879254214

5 SubmittersRCV000236200RCV000571560RCV001347593RCV002288934
NM_000546.6(TP53):c.365_366del (p.Val122fs) Microsatellite
Germline/somatic		 Chr17:7676002 Pathogenic Condition: not provided
Neoplasm of ovary
Li-Fraumeni syndrome
Rhabdomyosarcoma
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000136 rs_587780067

7 SubmittersRCV000115720RCV000785538RCV000824056RCV001257526RCV002288595RCV002288594
NM_000546.6(TP53):c.631_632del (p.Thr211fs) Microsatellite
Germline		 Chr17:7674898 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002353975RCV004053826
NM_000546.6(TP53):c.976_977dup (p.Tyr327fs) Microsatellite
Germline		 Chr17:7673550 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 rs_1597359235

1 SubmittersRCV001019729
NM_000546.6(TP53):c.980_981del (p.Tyr327fs) Microsatellite
Somatic		 Chr17:7673546 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1597359215

1 SubmittersRCV000785540
NM_000546.6(TP53):c.841_842del (p.Asp281fs) Microsatellite
Germline		 Chr17:7673777 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_1567547661

1 SubmittersRCV000691758
NM_000546.6(TP53):c.475_476del (p.Ala159fs) Microsatellite
Germline		 Chr17:7675135 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003509942
NM_000546.6(TP53):c.608_609del (p.Val203fs) Microsatellite
Germline		 Chr17:7674921 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003623373
NM_000546.6(TP53):c.595_598del (p.Gly199fs) Microsatellite
Germline		 Chr17:7674932 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003509973
NM_000546.6(TP53):c.499_500del (p.Gln167fs) Microsatellite
Germline		 Chr17:7675111 Pathogenic Prostate cancer, hereditary, 1
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003484920RCV003509831RCV004364862
NM_000546.6(TP53):c.839_842dup (p.Asp281fs) Microsatellite
Germline		 Chr17:7673777 Pathogenic Malignant tumor of breast
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003230258RCV003621689
NM_000546.6(TP53):c.1101-2_1101-1inv Inversion
Unknown		 Chr17:7669691 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004442479
NM_000546.6(TP53):c.886_887insGGCCCGTCTCCGTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGGCTCCCTCTCGCTCTCCCGTCGGCCTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAGGGGAGCCTC (p.His296fs) Insertion
Germline		 Chr17:7673733 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003622550
NM_000546.6(TP53):c.545_546insGTGAG (p.Cys182delinsTrpTer) Insertion
Unknown		 Chr17:7675066 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003450605
NM_000546.6(TP53):c.328_329insA (p.Arg110fs) Insertion
Germline		 Chr17:7676040 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003509867
NM_000546.6(TP53):c.897_898insA (p.Pro300fs) Insertion
Unknown		 Chr17:7673722 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440163
NM_000546.6(TP53):c.483_484insG (p.Ile162fs) Insertion
Unknown		 Chr17:7675128 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440147
NM_000546.6(TP53):c.784_785insAAGCC (p.Gly262fs) Insertion
Germline		 Chr17:7673835 Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004018376
NM_000546.6(TP53):c.718_719insTGTT (p.Ser240fs) Insertion
Germline		 Chr17:7674244 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003622752
NM_000546.6(TP53):c.286_287insA (p.Ser96fs) Insertion
Germline		 Chr17:7676082 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003510410
NM_000546.6(TP53):c.891_892insA (p.Glu298fs) Insertion
Unknown		 Chr17:7673728 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004442568
NM_000546.6(TP53):c.743_744insCCGCCCATGAACCTCCGGCATGAACCG (p.Pro250_Ile251insTerArgPro) Insertion
Unknown		 Chr17:7674219 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003316919
NM_000546.6(TP53):c.455_456insT (p.Pro153fs) Insertion
Germline		 Chr17:7675156 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002330350
NM_000546.6(TP53):c.716_717insT (p.Ser240fs) Insertion
Germline		 Chr17:7674246 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA645369702 rs_1131691541

1 SubmittersRCV000493285
NM_000546.6(TP53):c.90_91insA (p.Val31fs) Insertion
Germline		 Chr17:7676387 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA645369700 rs_1131691618

1 SubmittersRCV000493979
NM_000546.6(TP53):c.842_843insG (p.Asp281fs) Insertion
Germline		 Chr17:7673777 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA658656538 rs_1555525226

1 SubmittersRCV000570263
NM_000546.6(TP53):c.373_374insACTGTGACTTGCA (p.Thr125fs) Insertion
Germline		 Chr17:7675995 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2073448940

1 SubmittersRCV001056387
NM_000546.6(TP53):c.574_575insGG (p.Gln192fs) Insertion
Germline		 Chr17:7674956 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002880786
NM_000546.6(TP53):c.214_215insG (p.Pro72fs) Insertion
Germline		 Chr17:7676154 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA645369692 rs_1131691014

1 SubmittersRCV000492601
NM_000546.6(TP53):c.816_817insGGGGC (p.Arg273fs) Insertion
Germline		 Chr17:7673803 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002856652
NM_000546.6(TP53):c.720_721insGCATCCACTACAACTACATGTGTAACAGT (p.Ser241fs) Insertion
Germline		 Chr17:7674242 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151021354

1 SubmittersRCV001930388
NM_000546.6(TP53):c.400_401insG (p.Phe134fs) Insertion
Unknown		 Chr17:7675211 Likely pathogenic Condition: not provided No Assertion Criteria Provided
 CA658683992 rs_1555526286

1 SubmittersRCV000582839
NM_000546.6(TP53):c.863_864insGGCACAGAGGAAGAGAA (p.Asn288fs) Insertion
Germline		 Chr17:7673756 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA658656532 rs_1555525156

1 SubmittersRCV000571294
NM_000546.6(TP53):c.527_528insT (p.His178fs) Insertion
Germline		 Chr17:7675084 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151030577

1 SubmittersRCV001390893
NM_000546.6(TP53):c.908_909insGGGG (p.Ser303fs) Insertion
Somatic		 Chr17:7673711 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567546889

1 SubmittersRCV000785534
NM_000546.6(TP53):c.1014_1015insT (p.Glu339Ter) Insertion
Somatic		 Chr17:7670694 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567542146

1 SubmittersRCV000785266
NM_000546.6(TP53):c.345_352delinsAGCC (p.His115fs) Indel
Germline		 Chr17:7676017 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002457200
NM_000546.6(TP53):c.329_330delinsCC (p.Arg110Pro) Indel
Germline		 Chr17:7676039 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_1597373700

1 SubmittersRCV000794759
NM_000546.6(TP53):c.77_80delinsAAGAACGT (p.Leu26fs) Indel
Germline		 Chr17:7676398 Pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Single Submitter
 CA000409 rs_397516438

2 SubmittersRCV000036535RCV000569180
NM_000546.6(TP53):c.426_428delinsCA (p.Val143fs) Indel
Germline		 Chr17:7675184 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003032807
NM_000546.6(TP53):c.486_489delinsTGTAGACTGCTTGT (p.Tyr163fs) Indel
Germline		 Chr17:7675123 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 rs_1597370312

1 SubmittersRCV001023164
NM_000546.6(TP53):c.919+15_919+17delinsTGGAAACGAATGGAATCATCATCGAATGGAAATGAAAGGAGTCATCATCTAATGGAATTGCATGGAATCATCATAAAATGGAATCGAATGGAATCAACATCAAATGGAATCAAATGGAATCATTGAACGGAATTGAATGGAATCGTCATCGAATGAATTGACTGCAATCATCGAATGGTCTCGAATGGAATCATCTTCAAATGGAATGGAATGGAATCATCGCATAGAATCGAATGGAATTATCATCGAATGGAATCGAATGGAATCAACATCAAACGGAAAAAAACGGAATTATCGAATGGAATCGAAGAGAATCATC Indel
Germline		 Chr17:7673684 Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002922072
NM_000546.6(TP53):c.451_452delinsTT (p.Pro151Phe) Indel
Germline		 Chr17:7675160 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 rs_1597370899

1 SubmittersRCV001022612
NM_000546.6(TP53):c.910_911delinsGAGGTAAGCAAGG (p.Thr304fs) Indel
Germline		 Chr17:7673709 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2073173418

1 SubmittersRCV001239449
NM_000546.6(TP53):c.715_722delinsT (p.Asn239fs) Indel
Germline		 Chr17:7674241 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002367541
NM_000546.6(TP53):c.492_493delinsCT (p.Lys164_Gln165delinsAsnTer) Indel
Germline		 Chr17:7675119 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_1567553215

1 SubmittersRCV000703049
NM_000546.6(TP53):c.1043_1051delinsG (p.Leu348_Lys351delinsTer) Indel
Germline		 Chr17:7670658 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_1567541951

1 SubmittersRCV000699234
NM_000546.6(TP53):c.473_474delinsTT (p.Arg158Leu) Indel
Germline		 Chr17:7675138 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1567553501

4 SubmittersRCV001022965RCV000688595RCV002289962
NM_000546.6(TP53):c.766_770delinsCAGGTCAGGACATCCA (p.Thr256fs) Indel
Germline		 Chr17:7674193 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA10580922 rs_876659098

1 SubmittersRCV000219279
NM_000546.6(TP53):c.557_559+2delinsGGGG Indel
Germline		 Chr17:7675051 Likely pathogenic not specified Criteria Provided
Single Submitter
 rs_1567552467

1 SubmittersRCV000780794
NM_000546.6(TP53):c.137delinsGT (p.Ser46fs) Indel
Germline		 Chr17:7676232 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA169169 rs_587782650

1 SubmittersRCV000132061
NM_000546.6(TP53):c.741_742delinsTT (p.Arg248Trp) Indel
Germline		 Chr17:7674221 Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 CA645373070 rs_1555525498

1 SubmittersRCV000499534
NM_000546.6(TP53):c.324_331delinsAAA (p.Phe109fs) Indel
Germline		 Chr17:7676038 Pathogenic/Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Multiple Submitters
No Conflicts
 rs_2073455679

2 SubmittersRCV001293594
NM_000546.6(TP53):c.578_580delinsCAGACCTAAA (p.His193fs) Indel
Germline		 Chr17:7674951 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 rs_2151027982

1 SubmittersRCV001552626
NM_000546.6(TP53):c.844_847delinsAG (p.Arg283fs) Indel
Germline		 Chr17:7673773 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 CA658798705 rs_1555525209

1 SubmittersRCV000633386
NM_000546.6(TP53):c.376-70_394delinsG Indel
Germline		 Chr17:7675218 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2073402086

1 SubmittersRCV001215244
NM_000546.6(TP53):c.795_796delinsCT (p.Gly266Ter) Indel
Germline		 Chr17:7673824 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA658683981 rs_1555525344

1 SubmittersRCV000584005
NM_000546.6(TP53):c.609_610delinsCT (p.Glu204Ter) Indel
Somatic		 Chr17:7674921 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567551718

1 SubmittersRCV000785499
NM_000546.6(TP53):c.326delinsCCCAA (p.Phe109fs) Indel
Germline		 Chr17:7676043 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA645369688 rs_1131691038

1 SubmittersRCV000492295
NM_000546.6(TP53):c.158_163delinsAT (p.Trp53fs) Indel
Germline		 Chr17:7676206 Pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter
 rs_2151042609

1 SubmittersRCV002226330
NM_000546.6(TP53):c.1021delinsGAA (p.Phe341fs) Indel
Germline		 Chr17:7670688 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2072915470

1 SubmittersRCV001247641
NM_000546.6(TP53):c.498_499delinsTT (p.Gln167Ter) Indel
Germline		 Chr17:7675113 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002857437
NM_000546.6(TP53):c.559+2_559+3delinsGT Indel
Germline		 Chr17:7675050 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 rs_1597369390

1 SubmittersRCV001024303
NM_000546.5(TP53):c.766_770delACACTins16 (p.?) Indel
Germline		 Chr17:-1 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV000492563
NM_000546.6(TP53):c.734_735delinsAT (p.Gly245Asp) Indel
Germline		 Chr17:7674228 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2073251813

1 SubmittersRCV001068346
NM_000546.6(TP53):c.838_848delinsCA (p.Arg280_Arg283delinsHis) Indel
Germline		 Chr17:7673772 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA000443 rs_587781564

1 SubmittersRCV000129588
NM_000546.6(TP53):c.324_328delinsAAAA (p.Phe109fs) Indel
Germline		 Chr17:7676041 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA645369687 rs_1131691031

1 SubmittersRCV000492114
NM_000546.6(TP53):c.403_405delinsGG (p.Cys135fs) Indel
Germline		 Chr17:7675207 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA645369689 rs_1131691036

1 SubmittersRCV000492493
NM_000546.6(TP53):c.450_452delinsT (p.Pro152fs) Indel
Somatic		 Chr17:7675160 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567553834

1 SubmittersRCV000785557
NM_000546.6(TP53):c.526_528delinsCGG (p.Cys176Arg) Indel
Somatic		 Chr17:7675084 Likely pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567552847

1 SubmittersRCV000785487
NM_000546.6(TP53):c.380_381delinsT (p.Ser127fs) Indel
Unknown		 Chr17:7675231 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440173
NM_000546.6(TP53):c.987_993+2delinsTA Indel
Germline		 Chr17:7673533 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003177181
NM_000546.6(TP53):c.838_851delinsTGACCAAAT (p.Arg280_Thr284delinsTer) Indel
Unknown		 Chr17:7673769 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004442562
NM_000546.6(TP53):c.848delinsCC (p.Arg283fs) Indel
Unknown		 Chr17:7673772 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004442520
NM_000546.6(TP53):c.1021_1022delinsAG (p.Phe341Ser) Indel
Germline		 Chr17:7670687 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003177176
NM_000546.6(TP53):c.261_263delinsTGGCCCCTGCCCCTCCTGGCCCCTGCCCCTG (p.Ala88fs) Indel
Unknown		 Chr17:7676106 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003334742
NM_000546.6(TP53):c.215_217delinsGCA (p.Pro72_Val73delinsArgMet) Indel
Germline		 Chr17:7676152 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome Criteria Provided
Conflicting Classifications

2 SubmittersRCV003171492
NM_000546.6(TP53):c.86_87delinsT (p.Asn29fs) Indel
Unknown		 Chr17:7676391 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440373
NM_000546.6(TP53):c.75-7_82delinsA Indel
Unknown		 Chr17:7676396 Likely pathogenic Adrenocortical carcinoma, hereditary Criteria Provided
Single Submitter

1 SubmittersRCV004573746
NM_000546.6(TP53):c.451_452delinsAG (p.Pro151Ser) Indel
Germline		 Chr17:7675160 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003510506
NM_000546.6(TP53):c.920-3_920-1delinsACTGCCTCTTTCCACTTGCACCTTTC Indel
Unknown		 Chr17:7673609 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440204
NM_000546.6(TP53):c.484_487delinsGG (p.Ile162fs) Indel
Germline		 Chr17:7675125 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003339029
NM_000546.6(TP53):c.376-1_381delinsT Indel
Unknown		 Chr17:7675231 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440235
NM_000546.6(TP53):c.747_748delinsTA (p.Arg249_Pro250delinsSerThr) Indel
Unknown		 Chr17:7674215 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440273
NM_000546.6(TP53):c.917_919+5delinsAGGA Indel
Unknown		 Chr17:7673696 Likely pathogenic Adrenocortical carcinoma, hereditary Criteria Provided
Single Submitter

1 SubmittersRCV004573747
NM_000546.6(TP53):c.783_794delinsG (p.Ser261fs) Indel
Unknown		 Chr17:7673826 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440284
NM_000546.6(TP53):c.470_471delinsGT (p.Val157Gly) Indel
Unknown		 Chr17:7675141 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440288
NM_000546.6(TP53):c.761_762delinsAT (p.Ile254Asn) Indel
Germline		 Chr17:7674201 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003622691
NM_000546.6(TP53):c.1043_1064delinsGCA (p.Leu348fs) Indel
Unknown		 Chr17:7670645 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003452621
NM_000546.6(TP53):c.863dup (p.Asn288fs) Duplication
Unknown		 Chr17:7673756 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440067
NM_000546.6(TP53):c.819dup (p.Val274fs) Duplication
Germline		 Chr17:7673800 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004518781
NM_000546.6(TP53):c.728dup (p.Met243fs) Duplication
Unknown		 Chr17:7674234 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004442719
NM_000546.6(TP53):c.905_917dup (p.Arg306_Ala307insGluHisTer) Duplication
Germline		 Chr17:7673702 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003623390
NM_000546.6(TP53):c.657dup (p.Tyr220fs) Duplication
Unknown		 Chr17:7674873 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004442596
NM_000546.6(TP53):c.812dup (p.Val272fs) Duplication
Unknown		 Chr17:7673807 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004442575
NM_000546.6(TP53):c.849_877dup (p.Gly293fs) Duplication
Germline		 Chr17:7673742 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003622914
NM_000546.6(TP53):c.456dup (p.Pro153fs) Duplication
Unknown		 Chr17:7675155 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004437836
NM_000546.6(TP53):c.982_985dup (p.Thr329fs) Duplication
Unknown		 Chr17:7673542 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004437848
NM_000546.6(TP53):c.900_916dup (p.Arg306fs) Duplication
Unknown		 Chr17:7673703 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004442529
NM_000546.6(TP53):c.461dup (p.Thr155fs) Duplication
Unknown		 Chr17:7675150 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004439988
NM_000546.6(TP53):c.718dup (p.Ser240fs) Duplication
Unknown		 Chr17:7674244 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440305
NM_000546.6(TP53):c.159dup (p.Phe54fs) Duplication
Unknown		 Chr17:7676209 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004442405
NM_000546.6(TP53):c.242_245dup (p.Ala83fs) Duplication
Unknown		 Chr17:7676123 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440411
NM_000546.6(TP53):c.380_384dup (p.Ala129fs) Duplication
Unknown		 Chr17:7675227 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440394
NM_000546.6(TP53):c.375_375+1dup Duplication
Unknown		 Chr17:7675992 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440370
NM_000546.6(TP53):c.876dup (p.Gly293fs) Duplication
Unknown		 Chr17:7673743 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440351
NM_000546.6(TP53):c.905_908dup (p.Ser303fs) Duplication
Unknown		 Chr17:7673711 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440279
NM_000546.6(TP53):c.846_853dup (p.Glu285fs) Duplication
Unknown		 Chr17:7673766 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440327
NM_000546.6(TP53):c.764dup (p.Thr256fs) Duplication
Unknown		 Chr17:7674198 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440317
NM_000546.6(TP53):c.878_912dup (p.Lys305fs) Duplication
Unknown		 Chr17:7673707 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003334733
NM_000546.6(TP53):c.907_910dup (p.Thr304fs) Duplication
Germline		 Chr17:7673709 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003510018
NM_000546.6(TP53):c.706_707dup (p.Met237fs) Duplication
Germline		 Chr17:7674255 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003510058
NM_000546.6(TP53):c.868dup (p.Arg290fs) Duplication
Germline		 Chr17:7673751 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003040962
NM_000546.6(TP53):c.279_280dup (p.Ser94fs) Duplication
Germline		 Chr17:7676088 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003171493
NM_000546.6(TP53):c.318dup (p.Tyr107fs) Duplication
Unknown		 Chr17:7676050 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003315106
NM_000546.6(TP53):c.532dup (p.His178fs) Duplication
Germline		 Chr17:7675079 Pathogenic Prostate cancer, hereditary, 1
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003484395RCV003509830RCV004364861
NM_000546.6(TP53):c.322_327dup (p.Phe109_Arg110insGlyPhe) Duplication
Germline		 Chr17:7676041 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003389360
NM_000546.6(TP53):c.217_221dup (p.Pro75fs) Duplication
Germline		 Chr17:7676147 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003510643
NM_000546.6(TP53):c.1007_1008dup (p.Arg337fs) Duplication
Germline		 Chr17:7670700 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003509962
NM_000546.6(TP53):c.871_883dup (p.Pro295fs) Duplication
Germline		 Chr17:7673736 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003621774
NM_000546.6(TP53):c.891dup (p.Glu298fs) Duplication
Germline		 Chr17:7673728 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 rs_2151014373

1 SubmittersRCV001804345
NM_000546.6(TP53):c.485_488dup (p.Lys164fs) Duplication
Germline		 Chr17:7675123 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002340286
NM_000546.6(TP53):c.72dup (p.Leu25fs) Duplication
Germline		 Chr17:7676522 Pathogenic 7 conditions Criteria Provided
Single Submitter
 rs_2151047224

1 SubmittersRCV001829269
NM_000546.6(TP53):c.271dup (p.Trp91fs) Duplication
Germline		 Chr17:7676097 Pathogenic Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1597374152

3 SubmittersRCV000986049RCV001070133RCV002290498RCV002290499
NM_000546.6(TP53):c.102dup (p.Pro36fs) Duplication
Germline		 Chr17:7676266 Pathogenic Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2073488821

2 SubmittersRCV001233550RCV004033205
NM_000546.6(TP53):c.713dup (p.Cys238fs) Duplication
Unknown		 Chr17:7674249 Pathogenic Squamous cell carcinoma of the head and neck Criteria Provided
Single Submitter
 rs_1597365075

1 SubmittersRCV000989713
NM_000546.6(TP53):c.626dup (p.Asn210fs) Duplication
Germline		 Chr17:7674904 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2073332970

1 SubmittersRCV001224314
NM_000546.6(TP53):c.241dup (p.Thr81fs) Duplication
Germline		 Chr17:7676127 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2073470833

1 SubmittersRCV001218097
NM_000546.6(TP53):c.148dup (p.Ile50fs) Duplication
Germline		 Chr17:7676220 Pathogenic Condition: not provided
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1567556956

3 SubmittersRCV003238700RCV003485730RCV003509690
NM_000546.6(TP53):c.455dup (p.Pro153fs) Duplication
Germline		 Chr17:7675156 Pathogenic Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000202 rs_730882019

6 SubmittersRCV000013155RCV000161060RCV001037925RCV000766936
NM_000546.6(TP53):c.891_915dup (p.Ala307_Leu308insAlaProArgGluHisTer) Duplication
Germline		 Chr17:7673700 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
TP53-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2073171970

5 SubmittersRCV001044133RCV002290567RCV002290568RCV003413836
NM_000546.6(TP53):c.227dup (p.Pro77fs) Duplication
Germline		 Chr17:7676141 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151041421

1 SubmittersRCV001914319
NM_000546.6(TP53):c.331_365dup (p.Thr123fs) Duplication
Germline		 Chr17:7676003 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1597373467

3 SubmittersRCV001008166RCV002290522RCV002290521RCV002280147
NM_000546.6(TP53):c.327_328dup (p.Arg110fs) Duplication
Germline		 Chr17:7676040 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_587780066

1 SubmittersRCV001040902
NM_000546.6(TP53):c.458_462dup (p.Thr155fs) Duplication
Germline		 Chr17:7675149 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151032368

1 SubmittersRCV001386739
NC_000017.11:g.7674291dup Duplication
Germline		 Chr17:7674289 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151022531

1 SubmittersRCV001941747
NM_000546.6(TP53):c.228_244dup (p.Pro82fs) Duplication
Germline		 Chr17:7676124 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151041118

1 SubmittersRCV001941697
NM_000546.6(TP53):c.398dup (p.Met133fs) Duplication
Germline		 Chr17:7675213 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 rs_1597371512

1 SubmittersRCV001021591
NM_000546.6(TP53):c.934_992dup (p.Ile332fs) Duplication
Germline		 Chr17:7673535 Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151010859

1 SubmittersRCV001377138
NM_000546.6(TP53):c.810dup (p.Glu271Ter) Duplication
Germline		 Chr17:7673809 Pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1567548114

2 SubmittersRCV001061445RCV002418518
NM_000546.6(TP53):c.561_564dup (p.Ala189fs) Duplication
Germline		 Chr17:7674966 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2073348422

1 SubmittersRCV001052609
NM_000546.6(TP53):c.422dup (p.Cys141fs) Duplication
Germline		 Chr17:7675189 Pathogenic Li-Fraumeni syndrome
Prostate cancer, hereditary, 1
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2073394466

3 SubmittersRCV001047952RCV003483763RCV004031488
NM_000546.6(TP53):c.119dup (p.Met40fs) Duplication
Germline		 Chr17:7676249 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151043421

1 SubmittersRCV001383079
NM_000546.6(TP53):c.142_152dup (p.Gln52fs) Duplication
Germline		 Chr17:7676216 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 rs_2073481789

1 SubmittersRCV001177213
NM_000546.6(TP53):c.481_497dup (p.Gln167fs) Duplication
Germline		 Chr17:7675114 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 rs_1597370230

1 SubmittersRCV001023096
NM_000546.6(TP53):c.131_153dup (p.Gln52fs) Duplication
Germline		 Chr17:7676215 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2073481527

1 SubmittersRCV001054654
NM_000546.6(TP53):c.872_890dup (p.His297fs) Duplication
Germline		 Chr17:7673729 Pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2151014403

2 SubmittersRCV001380500RCV002377566
NM_000546.6(TP53):c.1014dup (p.Glu339fs) Duplication
Germline		 Chr17:7670694 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2150995140

1 SubmittersRCV001385810
NM_000546.6(TP53):c.945dup (p.Pro316fs) Duplication
Germline		 Chr17:7673582 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151011976

1 SubmittersRCV001924265
NM_000546.6(TP53):c.155_157dup (p.Trp53Ter) Duplication
Germline		 Chr17:7676211 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA168994 rs_587782609

1 SubmittersRCV000131982
NM_000546.6(TP53):c.909_916dup (p.Arg306fs) Duplication
Germline		 Chr17:7673703 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 rs_1597360326

1 SubmittersRCV001018826
NM_000546.6(TP53):c.665dup (p.Pro223fs) Duplication
Germline		 Chr17:7674865 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_1567551073

1 SubmittersRCV001384354
NM_000546.6(TP53):c.371dup (p.Cys124fs) Duplication
Germline/somatic		 Chr17:7675997 Pathogenic Neoplasm of ovary
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1267047192

3 SubmittersRCV000785247RCV002535725RCV004027335
NM_000546.6(TP53):c.392_398dup (p.Met133fs) Duplication
Germline		 Chr17:7675213 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter
 rs_2151033760

1 SubmittersRCV002243556
NM_000546.6(TP53):c.870dup (p.Lys291fs) Duplication
Germline		 Chr17:7673749 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 CA645588334 rs_1555525140

1 SubmittersRCV000545094
NM_000546.6(TP53):c.323dup (p.Arg110fs) Duplication
Germline		 Chr17:7676045 Pathogenic Condition: not provided
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2151039468

2 SubmittersRCV002211384RCV003089123
NM_000546.6(TP53):c.443_460dup (p.Asp148_Pro153dup) Duplication
Somatic		 Chr17:7675151 Likely pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567553717

1 SubmittersRCV000785241
NM_000546.6(TP53):c.445dup (p.Ser149fs) Duplication
Germline/somatic		 Chr17:7675166 Pathogenic Neoplasm of ovary
Li-Fraumeni syndrome		 Criteria Provided
Single Submitter
 rs_1064793929

2 SubmittersRCV000785335RCV003621573
NM_000546.6(TP53):c.323_329dup (p.Leu111fs) Duplication
Germline		 Chr17:7676039 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Acute myeloid leukemia
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA645369686 rs_1131691004

5 SubmittersRCV000492097RCV000699900RCV002227477RCV002289661
NM_000546.6(TP53):c.365dup (p.Thr123fs) Duplication
Germline		 Chr17:7676003 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002833381
NM_000546.6(TP53):c.156dup (p.Trp53fs) Duplication
Germline		 Chr17:7676212 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 CA645589403 rs_1555526748

1 SubmittersRCV000528831
NM_000546.6(TP53):c.643dup (p.Ser215fs) Duplication
Somatic		 Chr17:7674887 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567551402

1 SubmittersRCV000785298
NM_000546.6(TP53):c.308dup (p.Tyr103Ter) Duplication
Germline		 Chr17:7676060 Pathogenic Gastric cancer No Assertion Criteria Provided

1 SubmittersRCV003164626
NM_000546.6(TP53):c.847dup (p.Arg283fs) Duplication
Germline		 Chr17:7673772 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151015523

1 SubmittersRCV001947079
NM_000546.6(TP53):c.902dup (p.Gly302fs) Duplication
Germline		 Chr17:7673717 Pathogenic Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_876660726

2 SubmittersRCV001887073RCV004039101
NM_000546.6(TP53):c.742dup (p.Arg248fs) Duplication
Germline		 Chr17:7674220 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002858062
NM_000546.6(TP53):c.88_96+1dup Duplication
Germline		 Chr17:7676380 Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151045431

1 SubmittersRCV001968703
NM_000546.6(TP53):c.224dup (p.Ala76fs) Duplication
Somatic		 Chr17:7676144 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567556454

1 SubmittersRCV000785450
NM_000546.6(TP53):c.880dup (p.Glu294fs) Duplication
Germline		 Chr17:7673739 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151014602

1 SubmittersRCV001953419
NM_000546.6(TP53):c.517_535dup (p.His179fs) Duplication
Germline		 Chr17:7675076 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_1567552753

1 SubmittersRCV000704693
NM_000546.5(TP53):c.2588dup Duplication
Germline		 Chr17:7668202 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 CA645372603 rs_1555523630

1 SubmittersRCV000501362
NM_000546.6(TP53):c.912dup (p.Lys305Ter) Duplication
Germline		 Chr17:7673707 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 rs_1567546818

1 SubmittersRCV000776787
NM_000546.6(TP53):c.602dup (p.Leu201fs) Duplication
Germline		 Chr17:7674928 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002358157
NM_000546.6(TP53):c.334_364dup (p.Val122fs) Duplication
Not applicable		 Chr17:7676004 Pathogenic Li-Fraumeni syndrome No Assertion Criteria Provided
 CA645373069 rs_1555526495

1 SubmittersRCV000494892
NM_000546.6(TP53):c.757dup (p.Thr253fs) Duplication
Germline		 Chr17:7674205 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002394109
NM_000546.6(TP53):c.430dup (p.Gln144fs) Duplication
Germline		 Chr17:7675181 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002331954
NM_000546.6(TP53):c.416_420dup (p.Cys141fs) Duplication
Germline		 Chr17:7675191 Pathogenic Breast neoplasm
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA645509496 rs_1555526250

2 SubmittersRCV000504610RCV002329178
NM_000546.6(TP53):c.376-2_377dup Duplication
Germline		 Chr17:7675234 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002349377
NM_000546.6(TP53):c.267dup (p.Ser90fs) Duplication
Somatic		 Chr17:7676101 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_587783062

1 SubmittersRCV000785494
NM_000546.6(TP53):c.96+2dup Duplication
Germline		 Chr17:7676379 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA645369699 rs_1131691015

1 SubmittersRCV000492157
NM_000546.6(TP53):c.714dup (p.Asn239Ter) Duplication
Germline/somatic		 Chr17:7674248 Pathogenic Neoplasm of ovary
Li-Fraumeni syndrome		 Criteria Provided
Single Submitter
 rs_1567549651

2 SubmittersRCV000785512RCV001873198
NM_000546.6(TP53):c.681dup (p.Asp228Ter) Duplication
Somatic		 Chr17:7674281 Pathogenic Neoplasm of ovary
Li-Fraumeni syndrome 1		 Criteria Provided
Single Submitter
 rs_1567550002

2 SubmittersRCV000785306RCV004027339
NM_000546.6(TP53):c.715_718dup (p.Ser240fs) Duplication
Germline		 Chr17:7674244 Pathogenic Hereditary cancer-predisposing syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 No Assertion Criteria Provided

2 SubmittersRCV003156030RCV003312050
NM_000546.6(TP53):c.97dup (p.Ser33fs) Duplication
Germline		 Chr17:7676271 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA645369697 rs_1131691041

1 SubmittersRCV000492612
NM_000546.6(TP53):c.475_481dup (p.Ala161fs) Duplication
Germline		 Chr17:7675130 Pathogenic Choroid plexus papilloma
Bone osteosarcoma		 No Assertion Criteria Provided
 CA278881 rs_863223301

1 SubmittersRCV000013179RCV000013180
NM_000546.6(TP53):c.647_651dup (p.Val218fs) Duplication
Somatic		 Chr17:7674879 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567551279

1 SubmittersRCV000785273
NC_000017.10:g.(?_7578171)_(7579918_?)dup Duplication
Germline		 Chr17:-1 Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV000633421
NM_000546.6(TP53):c.1179dup (p.Ter394LeuextTer?) Duplication
Germline		 Chr17:7669611 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA645369640 rs_1131691024

2 SubmittersRCV000492658RCV002523988
NM_000546.6(TP53):c.38dup (p.Leu14fs) Duplication
Unknown		 Chr17:7676556 Pathogenic/Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Multiple Submitters
No Conflicts
 CA658656673 rs_1555527002

2 SubmittersRCV000576812
NM_000546.6(TP53):c.812_815dup (p.Arg273fs) Duplication
Germline		 Chr17:7673804 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_1597362004

1 SubmittersRCV000813368
NM_000546.6(TP53):c.801dup (p.Asn268fs) Duplication
Germline/somatic		 Chr17:7673818 Pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Chronic myelogenous leukemia, BCR-ABL1 positive		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1597362206

4 SubmittersRCV000793717RCV001027071RCV002290433RCV004576968
NM_000546.6(TP53):c.766dup (p.Thr256fs) Duplication
Germline		 Chr17:7674196 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_1597364034

1 SubmittersRCV000821100
NM_000546.6(TP53):c.983dup (p.Thr329fs) Duplication
Germline		 Chr17:7673544 Pathogenic Condition: not provided
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603410 rs_886041285

4 SubmittersRCV000286554RCV001788184RCV002288953RCV002519037
NM_000546.6(TP53):c.932dup (p.Asn311fs) Duplication
Germline		 Chr17:7673595 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002371627
NM_000546.6(TP53):c.509_510dup (p.Glu171fs) Duplication
Germline		 Chr17:7675101 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_1597370110

1 SubmittersRCV000793362
NM_000546.6(TP53):c.340_346dup (p.Ser116fs) Duplication
Germline		 Chr17:7676022 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1555526524

2 SubmittersRCV000657463RCV002458170
NM_000546.6(TP53):c.140dup (p.Asp48fs) Duplication
Germline		 Chr17:7676228 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002389469RCV004057173
NM_000546.6(TP53):c.342dup (p.His115fs) Duplication
Germline		 Chr17:7676026 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_1597373605

1 SubmittersRCV000818388
NM_000546.6(TP53):c.156_158dup (p.Trp53Ter) Duplication
Germline		 Chr17:7676210 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002405391
NM_000546.6(TP53):c.304dup (p.Thr102fs) Duplication
Germline		 Chr17:7676064 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151039878

1 SubmittersRCV001903053
NM_000546.6(TP53):c.196dup (p.Met66fs) Duplication
Germline		 Chr17:7676172 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_1597374735

1 SubmittersRCV000806223
NM_000546.6(TP53):c.643_644dup (p.Ser215fs) Duplication
Germline		 Chr17:7674886 Pathogenic Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA658683990 rs_1555525759

3 SubmittersRCV000581621RCV002530821RCV002367982
NM_000546.6(TP53):c.216dup (p.Val73fs) Duplication
Germline/somatic		 Chr17:7676152 Pathogenic Li-fraumeni-like syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Multiple myeloma
Breast and/or ovarian cancer
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000073 rs_730882018

9 SubmittersRCV000013157RCV000161059RCV000538223RCV000984104RCV001798560RCV002288698
NM_000546.6(TP53):c.901_902dup (p.Gly302fs) Duplication
Germline		 Chr17:7673717 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_876660726

1 SubmittersRCV000806178
NM_000546.6(TP53):c.514_517dup (p.Val173fs) Duplication
Germline		 Chr17:7675094 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter
 rs_1555526064

1 SubmittersRCV000657325
NM_000546.6(TP53):c.727_782+21dup Duplication
Somatic		 Chr17:7674159 Likely pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567548789

1 SubmittersRCV000785349
NM_000546.6(TP53):c.982_983dup (p.Thr329fs) Duplication
Germline		 Chr17:7673544 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_886041285

1 SubmittersRCV001951207
NM_000546.6(TP53):c.153dup (p.Gln52fs) Duplication
Somatic		 Chr17:7676215 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567556914

1 SubmittersRCV000785248
NM_000546.6(TP53):c.121_124dup (p.Asp42delinsGlyTer) Duplication
Germline		 Chr17:7676244 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA658656662 rs_1555526784

1 SubmittersRCV000566048
NM_000546.6(TP53):c.155_158dup (p.Trp53Ter) Duplication
Somatic		 Chr17:7676210 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1195793509

1 SubmittersRCV000785268
NM_000546.6(TP53):c.376-2dup Duplication
Germline		 Chr17:7675237 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
not specified
Condition: not provided
TP53-related disorder		 Criteria Provided
Conflicting Classifications
 CA192371 rs_751253294

11 SubmittersRCV000165040RCV000232667RCV000235779RCV000985262RCV003398839
NM_000546.6(TP53):c.511_515dup (p.Val173fs) Duplication
Germline		 Chr17:7675096 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA193181 rs_786202514

1 SubmittersRCV000165358
NM_000546.6(TP53):c.375+1dup Duplication
Germline		 Chr17:7675992 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA658798706 rs_1555526470

5 SubmittersRCV000633375RCV001021043RCV002289931RCV001591410
NM_000546.6(TP53):c.254dup (p.Ala86fs) Duplication
Germline		 Chr17:7676114 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_1064793279

1 SubmittersRCV001917979
NM_000546.6(TP53):c.848_867dup (p.Arg290fs) Duplication
Germline		 Chr17:7673752 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_1597360991

1 SubmittersRCV000805182
NM_000546.6(TP53):c.759_772del (p.Ile254fs) Deletion
Germline		 Chr17:7674190 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002824212
NM_000546.6(TP53):c.668del (p.Pro223fs) Deletion
Germline		 Chr17:7674862 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002820730
NM_000546.6(TP53):c.105del (p.Leu35fs) Deletion
Germline		 Chr17:7676263 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002401876
NM_000546.6(TP53):c.690del (p.Thr231fs) Deletion
Germline		 Chr17:7674272 Pathogenic Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2151022189

2 SubmittersRCV001390631RCV004037708
NM_000546.6(TP53):c.827_853del (p.Ala276_Thr284del) Deletion
Germline		 Chr17:7673766 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter
 rs_2151015346

1 SubmittersRCV001580141
NM_000546.6(TP53):c.304del (p.Thr102fs) Deletion
Germline		 Chr17:7676064 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002444093
NM_000546.6(TP53):c.101_102del (p.Pro34fs) Deletion
Germline		 Chr17:7676266 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002435595
NM_000546.6(TP53):c.-19_*21del (p.Met1fs) Deletion
Somatic		 Chr17:7669587 Pathogenic B-cell chronic lymphocytic leukemia No Assertion Criteria Provided

1 SubmittersRCV001527469
NM_000546.6(TP53):c.261_270del (p.Ala88fs) Deletion
Germline		 Chr17:7676098 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002437175
NM_000546.6(TP53):c.820del (p.Val274fs) Deletion
Germline		 Chr17:7673799 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003041274
NM_000546.6(TP53):c.200del (p.Pro67fs) Deletion
Germline		 Chr17:7676168 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002417320
NM_000546.6(TP53):c.420_431del (p.Cys141_Gln144del) Deletion
Germline		 Chr17:7675180 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV002511858
NM_000546.6(TP53):c.403del (p.Cys135fs) Deletion
Germline		 Chr17:7675208 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151033643

1 SubmittersRCV001381076
NM_000546.6(TP53):c.80del (p.Pro27fs) Deletion
Germline		 Chr17:7676397 Pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1192416464

3 SubmittersRCV002011961RCV002423123RCV004043834
NM_000546.6(TP53):c.363_374del (p.Val122_Thr125del) Deletion
Germline		 Chr17:7675994 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003029533
NM_000546.6(TP53):c.662_666del (p.Glu221fs) Deletion
Germline		 Chr17:7674864 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151025914

1 SubmittersRCV001383955
NM_000546.6(TP53):c.617del (p.Leu206fs) Deletion
Germline		 Chr17:7674913 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003042076
NM_000546.6(TP53):c.581_585del (p.Leu194fs) Deletion
Germline		 Chr17:7674945 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151027842

1 SubmittersRCV001390005
NM_000546.6(TP53):c.997del (p.Arg333fs) Deletion
Germline		 Chr17:7670711 Pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003038884RCV003294386RCV004068671
NM_000546.6(TP53):c.336_350del (p.Phe113_Gly117del) Deletion
Germline		 Chr17:7676018 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003011589
NM_000546.6(TP53):c.780_782+3del Deletion
Germline		 Chr17:7674177 Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002994332
NM_000546.6(TP53):c.833del (p.Pro278fs) Deletion
Germline		 Chr17:7673786 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002933162
NM_000546.6(TP53):c.372del (p.Thr123_Cys124insTer) Deletion
Germline		 Chr17:7675996 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002872712
NM_000546.6(TP53):c.219_237del (p.Ala74fs) Deletion
Germline		 Chr17:7676131 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002867830
NM_000546.6(TP53):c.425del (p.Pro142fs) Deletion
Germline		 Chr17:7675186 Pathogenic Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2151033162

2 SubmittersRCV001381033RCV004037648
NM_000546.6(TP53):c.856del (p.Glu286fs) Deletion
Germline		 Chr17:7673763 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002858373
NM_000546.6(TP53):c.448_459del (p.Thr150_Pro153del) Deletion
Germline/somatic		 Chr17:7675152 Pathogenic/Likely pathogenic Sarcoma
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000194 rs_137852790

3 SubmittersRCV000119795RCV002514608RCV004019663
NM_000546.6(TP53):c.375+2_375+15del Deletion
Germline		 Chr17:7675978 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151037977

1 SubmittersRCV001388867
NM_000546.6(TP53):c.283_376-269del Deletion
Germline		 Chr17:7675504 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002858572
NM_000546.6(TP53):c.920-3_923del Deletion
Germline		 Chr17:7673604 Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002880754
NM_000546.6(TP53):c.466_474del (p.Arg156_Arg158del) Deletion
Germline		 Chr17:7675137 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002843478
NM_000546.6(TP53):c.245del (p.Pro82fs) Deletion
Germline		 Chr17:7676123 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151041085

1 SubmittersRCV001384341
NM_000546.6(TP53):c.652_663del (p.Val218_Glu221del) Deletion
Germline		 Chr17:7674867 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002843347
NM_000546.6(TP53):c.205del (p.Ala69fs) Deletion
Germline		 Chr17:7676163 Pathogenic Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2151041861

2 SubmittersRCV001382613RCV004037657
NM_000546.6(TP53):c.736del (p.Gly245_Met246insTer) Deletion
Germline		 Chr17:7674226 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002830179
NM_000546.6(TP53):c.847_851del (p.Thr284fs) Deletion
Germline		 Chr17:7673768 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002815235
NM_000546.6(TP53):c.838_840del (p.Arg280del) Deletion
Germline		 Chr17:7673779 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002810938
NM_000546.6(TP53):c.102del (p.Leu35fs) Deletion
Germline		 Chr17:7676266 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2073488821

1 SubmittersRCV001384790
NM_000546.6(TP53):c.93del (p.Leu32fs) Deletion
Germline		 Chr17:7676384 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 rs_2151045484

1 SubmittersRCV002377577
NM_000546.6(TP53):c.109_124del (p.Ser37fs) Deletion
Germline		 Chr17:7676244 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151043336

1 SubmittersRCV001945778
NM_000546.6(TP53):c.331del (p.Leu111fs) Deletion
Germline		 Chr17:7676037 Pathogenic Acute myeloid leukemia No Assertion Criteria Provided
 rs_2151039122

1 SubmittersRCV002227835
NM_000546.6(TP53):c.920-4_920del Deletion
Germline		 Chr17:7673607 Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151012455

1 SubmittersRCV002003516
NM_000546.6(TP53):c.162del (p.Phe54fs) Deletion
Germline		 Chr17:7676206 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151042631

1 SubmittersRCV001999738
NM_000546.6(TP53):c.390del (p.Asn131fs) Deletion
Germline		 Chr17:7675221 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151033939

1 SubmittersRCV001956462
NM_000546.6(TP53):c.868del (p.Arg290fs) Deletion
Germline		 Chr17:7673751 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151014901

1 SubmittersRCV001999792
NM_000546.6(TP53):c.688_699del (p.Thr230_His233del) Deletion
Germline		 Chr17:7674263 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151022022

1 SubmittersRCV001872770
NM_000546.6(TP53):c.831_835del (p.Cys277fs) Deletion
Germline		 Chr17:7673784 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151015886

1 SubmittersRCV001939384
NM_000546.6(TP53):c.786del (p.Asn263fs) Deletion
Germline		 Chr17:7673833 Pathogenic Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2151017144

2 SubmittersRCV001980222RCV004044396
NM_000546.6(TP53):c.990del (p.Gln331fs) Deletion
Germline		 Chr17:7673537 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151010918

1 SubmittersRCV001880938
NM_000546.6(TP53):c.72del (p.Lys24fs) Deletion
Germline		 Chr17:7676522 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151047224

1 SubmittersRCV001972867
NM_000546.6(TP53):c.645del (p.Ser215fs) Deletion
Germline		 Chr17:7674885 Pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2151026447

3 SubmittersRCV001941775RCV002290815RCV002280198
NM_000546.6(TP53):c.816_831del (p.Arg273fs) Deletion
Germline		 Chr17:7673788 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151015993

1 SubmittersRCV001946949
NM_000546.6(TP53):c.535_549del (p.His179_Ser183del) Deletion
Germline		 Chr17:7675062 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151030037

1 SubmittersRCV002037458
NM_000546.6(TP53):c.1028del (p.Glu343fs) Deletion
Germline		 Chr17:7670680 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2150994907

3 SubmittersRCV002382492RCV002271881
NM_000546.6(TP53):c.863del (p.Asn288fs) Deletion
Germline		 Chr17:7673756 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151015077

1 SubmittersRCV001893366
NM_000546.6(TP53):c.262del (p.Ala88fs) Deletion
Germline		 Chr17:7676106 Pathogenic Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2151040686

2 SubmittersRCV001937114RCV004039855
NM_000546.6(TP53):c.791del (p.Leu264fs) Deletion
Germline		 Chr17:7673828 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151017034

1 SubmittersRCV001972672
NM_000546.6(TP53):c.651_658del (p.Val217_Val218insTer) Deletion
Germline		 Chr17:7674872 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151026152

1 SubmittersRCV001962927
NM_000546.6(TP53):c.479_503del (p.Met160fs) Deletion
Germline		 Chr17:7675108 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151031193

1 SubmittersRCV001920170
NM_000546.6(TP53):c.1054del (p.Asp352fs) Deletion
Germline		 Chr17:7670654 Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2150994429

1 SubmittersRCV002004215
NM_000546.6(TP53):c.645_647del (p.Ser215_Val216delinsArg) Deletion
Germline		 Chr17:7674883 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151026393

1 SubmittersRCV002002166
NM_000546.6(TP53):c.1046_1055del (p.Glu349fs) Deletion
Germline		 Chr17:7670653 Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2150994409

1 SubmittersRCV002004183
NM_000546.6(TP53):c.825del (p.Cys275fs) Deletion
Germline		 Chr17:7673794 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151016172

1 SubmittersRCV002000117
NM_000546.6(TP53):c.464_478del (p.Thr155_Ala159del) Deletion
Germline		 Chr17:7675133 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151031868

1 SubmittersRCV002018764
NM_000546.6(TP53):c.740_745del (p.Asn247_Arg248del) Deletion
Germline		 Chr17:7674217 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151020653

1 SubmittersRCV001971609
NM_000546.6(TP53):c.388del (p.Leu130fs) Deletion
Germline		 Chr17:7675223 Pathogenic Li-Fraumeni syndrome
Prostate cancer, hereditary, 1
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2151033977

3 SubmittersRCV001944670RCV003483845RCV004040351
NM_000546.6(TP53):c.781_782+8del Deletion
Germline		 Chr17:7674172 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002409960
NM_000546.6(TP53):c.155_164del (p.Gln52fs) Deletion
Germline		 Chr17:7676204 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002403359
NM_000546.6(TP53):c.628_629del (p.Asn210fs) Deletion
Germline		 Chr17:7674901 Pathogenic Li-Fraumeni syndrome 1 No Assertion Criteria Provided
 CA000300 rs_587776768

1 SubmittersRCV000013156
NM_000546.6(TP53):c.890del (p.His297fs) Deletion
Germline		 Chr17:7673729 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002376085
NM_000546.6(TP53):c.843_862del (p.Asp281fs) Deletion
Germline		 Chr17:7673757 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002414358
NM_000546.6(TP53):c.89del (p.Asn30fs) Deletion
Germline		 Chr17:7676388 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002376326
NM_000546.6(TP53):c.708del (p.Asn235_Tyr236insTer) Deletion
Germline		 Chr17:7674254 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002367270
NM_000546.6(TP53):c.965del (p.Pro322fs) Deletion
Germline		 Chr17:7673562 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002385390
NM_000546.6(TP53):c.95del (p.Leu32fs) Deletion
Germline		 Chr17:7676382 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002385290RCV004056948
NM_000546.6(TP53):c.90del (p.Asn30fs) Deletion
Germline		 Chr17:7676387 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002450015
NM_000546.6(TP53):c.294_298del (p.Ser99fs) Deletion
Germline		 Chr17:7676070 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 rs_2151039987

1 SubmittersRCV001805292
NM_000546.6(TP53):c.783-4_792del Deletion
Germline		 Chr17:7673827 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002412131
NM_000546.6(TP53):c.376-11_377del Deletion
Somatic		 Chr17:7675234 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter
 rs_2151034180

1 SubmittersRCV001808947
NM_000546.6(TP53):c.104del (p.Leu35fs) Deletion
Germline		 Chr17:7676264 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002401110
NM_000546.6(TP53):c.752del (p.Ile251fs) Deletion
Germline		 Chr17:7674210 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002393867
NM_000546.6(TP53):c.173del (p.Pro58fs) Deletion
Germline		 Chr17:7676195 Pathogenic Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2151042416

2 SubmittersRCV001884812RCV004041524
NM_000546.6(TP53):c.328del (p.Arg110fs) Deletion
Germline		 Chr17:7676040 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000120 rs_587780066

6 SubmittersRCV000115718RCV001854558RCV002288593
NM_000546.6(TP53):c.649del (p.Val217fs) Deletion
Germline		 Chr17:7674881 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002356267RCV003098268
NM_000546.6(TP53):c.541_559+1del Deletion
Germline		 Chr17:7675051 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002349428
NM_000546.6(TP53):c.738_747del (p.Met246fs) Deletion
Germline		 Chr17:7674215 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003047799
NM_000546.6(TP53):c.224del (p.Pro75fs) Deletion
Germline		 Chr17:7676144 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_1567556454

1 SubmittersRCV001887330
NM_000546.6(TP53):c.575del (p.Gln192fs) Deletion
Germline		 Chr17:7674955 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002349964
NM_000546.6(TP53):c.430del (p.Gln144fs) Deletion
Germline		 Chr17:7675181 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002331953
NM_000546.6(TP53):c.418_427del (p.Thr140fs) Deletion
Germline		 Chr17:7675184 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002327706
NM_000546.6(TP53):c.354del (p.Ala119fs) Deletion
Germline		 Chr17:7676014 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV002339736
NM_000546.6(TP53):c.532del (p.His178fs) Deletion
Germline/somatic		 Chr17:7675079 Pathogenic Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Li-Fraumeni syndrome
Adrenocortical carcinoma, hereditary		 Criteria Provided
Multiple Submitters
No Conflicts
 CA278880 rs_786202525

7 SubmittersRCV000013176RCV000215848RCV000785474RCV001046701RCV003473084
NM_000546.6(TP53):c.1083del (p.Ser362fs) Deletion
Germline		 Chr17:7670625 Pathogenic Diamond-Blackfan anemia
Bone marrow failure syndrome 5		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1555524354

4 SubmittersRCV000677307RCV000714961
NM_000546.6(TP53):c.657_668del (p.Tyr220_Pro223del) Deletion
Germline		 Chr17:7674862 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 CA10580929 rs_876660749

2 SubmittersRCV000222898RCV004020695
NM_000546.6(TP53):c.657_665del (p.Tyr220_Pro222del) Deletion
Germline		 Chr17:7674865 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA10580930 rs_876658144

1 SubmittersRCV000222764
NM_000546.6(TP53):c.949del (p.Gln317fs) Deletion
Germline/somatic		 Chr17:7673578 Pathogenic Li-Fraumeni syndrome
Neoplasm of ovary		 Criteria Provided
Single Submitter
 rs_1567546196

2 SubmittersRCV000699992RCV000785340
NM_000546.6(TP53):c.140del (p.Pro47fs) Deletion
Germline		 Chr17:7676228 Pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1567557016

2 SubmittersRCV000696659RCV002388271
NM_000546.6(TP53):c.454_466del (p.Pro152fs) Deletion
Germline/somatic		 Chr17:7675145 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10580942 rs_876659215

5 SubmittersRCV000220919RCV001388106RCV000785289RCV002288870
NM_000546.6(TP53):c.917_919+6del Deletion
Germline		 Chr17:7673694 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1567546716

2 SubmittersRCV000691144RCV004025072
NM_000546.6(TP53):c.501del (p.Gln167fs) Deletion
Germline		 Chr17:7675110 Pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1567553148

2 SubmittersRCV000686348RCV002343433
NM_000546.6(TP53):c.702_714del (p.His233_Tyr234insTer) Deletion
Germline		 Chr17:7674248 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_1567549676

1 SubmittersRCV000696660
NM_000546.6(TP53):c.782+2_782+6del Deletion
Germline		 Chr17:7674174 Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_1567548832

1 SubmittersRCV000703240
NM_000546.6(TP53):c.52del (p.Thr18fs) Deletion
Germline		 Chr17:7676542 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10580965 rs_876658627

3 SubmittersRCV000213243RCV002288855
NC_000017.11:g.(?_7669599)_(7676604_?)del Deletion
Germline		 Chr17:-1 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV000708057
NM_000546.6(TP53):c.594_611del (p.Gly199_Glu204del) Deletion
Somatic		 Chr17:7674919 Likely pathogenic Small cell carcinoma of the ovary, hypercalcemic type No Assertion Criteria Provided
 rs_1567551704

1 SubmittersRCV000679849
NM_000546.6(TP53):c.314del (p.Gly105fs) Deletion
Germline		 Chr17:7676054 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 rs_1567555907

1 SubmittersRCV000727568
NM_000546.6(TP53):c.1077del (p.Ser362fs) Deletion
Germline		 Chr17:7670631 Pathogenic Bone marrow failure syndrome 5
Diamond-Blackfan anemia		 Criteria Provided
Single Submitter
 rs_1555524370

3 SubmittersRCV000714962RCV000677306
NM_000546.6(TP53):c.247_256del (p.Ala83fs) Deletion
Germline		 Chr17:7676112 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 rs_1555526635

1 SubmittersRCV000657303
NM_000546.5(TP53):c.-202_*1207del Deletion
Germline		 Chr17:-1 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV000231533
NM_000546.6(TP53):c.917_919+10del Deletion
Germline		 Chr17:7673690 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA658798699 rs_1555525040

2 SubmittersRCV000633359RCV002377366
NM_000546.6(TP53):c.86del (p.Asn29fs) Deletion
Germline		 Chr17:7676391 Pathogenic Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA658798708 rs_1555526931

2 SubmittersRCV000633338RCV004025426
NM_000546.6(TP53):c.463_468del (p.Thr155_Arg156del) Deletion
Germline		 Chr17:7675143 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 CA645589061 rs_1555526166

1 SubmittersRCV000633345
NM_000546.6(TP53):c.662del (p.Glu221fs) Deletion
Germline		 Chr17:7674868 Pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10583678 rs_878854071

3 SubmittersRCV000234225RCV000492096RCV002288917
NM_000546.6(TP53):c.45del (p.Gln16fs) Deletion
Germline		 Chr17:7676549 Pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA658798710 rs_1555526997

2 SubmittersRCV000633337RCV002334072
NM_000546.6(TP53):c.155_156del (p.Gln52fs) Deletion
Germline		 Chr17:7676212 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 CA658798707 rs_1555526750

1 SubmittersRCV000633379
NM_000546.6(TP53):c.295del (p.Ser99fs) Deletion
Germline		 Chr17:7676073 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 CA497925912 rs_1555526593

1 SubmittersRCV000633340
NM_000546.6(TP53):c.785del (p.Gly262fs) Deletion
Germline		 Chr17:7673834 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10584587 rs_879253905

5 SubmittersRCV000236733RCV000492279RCV002288928RCV003509519
NM_000546.6(TP53):c.845_889del (p.Arg282_His296del) Deletion
Somatic		 Chr17:7673730 Likely pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567547066

1 SubmittersRCV000785250
NM_000546.6(TP53):c.545del (p.Cys182fs) Deletion
Germline/somatic		 Chr17:7675066 Conflicting classifications of pathogenicity Neoplasm of ovary
Prostate cancer, hereditary, 1		 No Assertion Criteria Provided
 rs_1567552584

2 SubmittersRCV000785517RCV003483722
NM_000546.6(TP53):c.551del (p.Asp184fs) Deletion
Somatic		 Chr17:7675060 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567552536

1 SubmittersRCV000785502
NM_000546.6(TP53):c.582del (p.Ile195fs) Deletion
Somatic		 Chr17:7674948 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567552031

1 SubmittersRCV000785262
NM_000546.6(TP53):c.665del (p.Pro222fs) Deletion
Germline/somatic		 Chr17:7674865 Pathogenic Neoplasm of ovary
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1567551073

3 SubmittersRCV000785327RCV001869172RCV004027341
NM_000546.6(TP53):c.675del (p.Gly226fs) Deletion
Somatic		 Chr17:7674287 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567550076

1 SubmittersRCV000785269
NM_000546.6(TP53):c.680del (p.Ser227fs) Deletion
Somatic		 Chr17:7674282 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567550018

1 SubmittersRCV000785280
NM_000546.6(TP53):c.712_738del (p.Cys238_Met246del) Deletion
Somatic		 Chr17:7674224 Likely pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567549353

1 SubmittersRCV000785259
NM_000546.6(TP53):c.750del (p.Ile251fs) Deletion
Somatic		 Chr17:7674212 Pathogenic Neoplasm of ovary
Li-Fraumeni syndrome 1		 Criteria Provided
Single Submitter
 rs_1567549203

2 SubmittersRCV000785350RCV004027343
NM_000546.6(TP53):c.759del (p.Ile254fs) Deletion
Somatic		 Chr17:7674203 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567549129

1 SubmittersRCV000785554
NM_000546.6(TP53):c.797del (p.Gly266fs) Deletion
Somatic		 Chr17:7673822 Pathogenic Neoplasm of ovary
Li-Fraumeni syndrome 1		 Criteria Provided
Single Submitter
 rs_1567548223

2 SubmittersRCV000785518RCV004027352
NM_000546.6(TP53):c.810del (p.Phe270fs) Deletion
Somatic		 Chr17:7673809 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567548114

1 SubmittersRCV000785457
NM_000546.6(TP53):c.522_559+5del Deletion
Germline		 Chr17:7675047 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 CA658798694 rs_1555525957

1 SubmittersRCV000633394
NM_000546.6(TP53):c.888_892del (p.His296fs) Deletion
Somatic		 Chr17:7673727 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567547030

1 SubmittersRCV000785495
NM_000546.6(TP53):c.933del (p.Asn311fs) Deletion
Somatic		 Chr17:7673594 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567546373

1 SubmittersRCV000785552
NM_000546.6(TP53):c.937_946del (p.Ser313fs) Deletion
Somatic		 Chr17:7673581 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567546226

1 SubmittersRCV000785505
NM_000546.6(TP53):c.996_997del (p.Ile332fs) Deletion
Somatic		 Chr17:7670711 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567542299

1 SubmittersRCV000785530
NM_000546.6(TP53):c.1027_1034del (p.Arg342_Glu343insTer) Deletion
Somatic		 Chr17:7670674 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567542043

1 SubmittersRCV000785461
NM_000546.6(TP53):c.1036del (p.Glu346fs) Deletion
Somatic		 Chr17:7670672 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567542031

1 SubmittersRCV000785295
NM_000546.6(TP53):c.902del (p.Pro301fs) Deletion
Germline/somatic		 Chr17:7673717 Pathogenic Hereditary cancer-predisposing syndrome
Lip and oral cavity carcinoma		 Criteria Provided
Single Submitter
 CA10580913 rs_876660726

2 SubmittersRCV000219373RCV001255679
NM_000546.6(TP53):c.559+2del Deletion
Germline		 Chr17:7675050 Likely pathogenic not specified Criteria Provided
Single Submitter
 rs_1567552459

1 SubmittersRCV000780793
NM_000546.6(TP53):c.839del (p.Arg280fs) Deletion
Germline		 Chr17:7673780 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 rs_1567547721

1 SubmittersRCV000772426
NM_000546.6(TP53):c.968_986del (p.Leu323fs) Deletion
Germline		 Chr17:7673541 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 rs_1567545918

1 SubmittersRCV000772929
NM_000546.6(TP53):c.716_736del (p.Asn239_Gly245del) Deletion
Germline		 Chr17:7674226 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA10580925 rs_876659260

1 SubmittersRCV000222616
NM_000546.6(TP53):c.1049_1050del (p.Leu350fs) Deletion
Germline		 Chr17:7670658 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA645369694 rs_1131691008

1 SubmittersRCV000492513
NM_000546.6(TP53):c.86_96+4del Deletion
Germline		 Chr17:7676377 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA645369698 rs_1555526916

1 SubmittersRCV000492216
NM_000546.6(TP53):c.216del (p.Val73fs) Deletion
Germline/somatic		 Chr17:7676152 Pathogenic Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA497925988 rs_730882018

4 SubmittersRCV000492385RCV000785475RCV001382264RCV002289676
NM_000546.6(TP53):c.248_249del (p.Ala83fs) Deletion
Germline		 Chr17:7676119 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA645369691 rs_1131691010

1 SubmittersRCV000492289
NM_000546.6(TP53):c.227_279del (p.Ala76fs) Deletion
Germline		 Chr17:7676089 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA645369690 rs_1555526610

2 SubmittersRCV000492268RCV003509551
NM_000546.6(TP53):c.592del (p.Glu198fs) Deletion
Germline		 Chr17:7674938 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA497925345 rs_1131691035

1 SubmittersRCV000492785
NM_000546.6(TP53):c.599del (p.Asn200fs) Deletion
Germline		 Chr17:7674931 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA497925338 rs_1131691011

2 SubmittersRCV000492564RCV004023279
NM_000546.6(TP53):c.635_636del (p.Phe212fs) Deletion
Germline/somatic		 Chr17:7674894 Pathogenic Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA645369684 rs_864309495

3 SubmittersRCV000492303RCV000785471RCV004023281
NM_000546.6(TP53):c.730_744del (p.Gly244_Arg248del) Deletion
Germline		 Chr17:7674218 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA645369701 rs_1555525486

1 SubmittersRCV000492700
NM_000546.6(TP53):c.844del (p.Arg282fs) Deletion
Germline		 Chr17:7673775 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA497715983 rs_1131691027

2 SubmittersRCV000492443RCV004023280
NM_000546.6(TP53):c.993+1del Deletion
Germline		 Chr17:7673533 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Reviewed By Expert Panel
 CA645369685 rs_1131691033

4 SubmittersRCV000492434RCV000991147
NM_000546.6(TP53):c.1018del (p.Met340fs) Deletion
Germline		 Chr17:7670690 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA645369695 rs_1131691005

1 SubmittersRCV000492284
NM_000546.6(TP53):c.1024del (p.Arg342fs) Deletion
Germline/somatic		 Chr17:7670684 Pathogenic Hereditary cancer-predisposing syndrome
Neoplasm of ovary
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA497712605 rs_1131691022

5 SubmittersRCV000492610RCV000785302RCV001036544RCV002289670
NM_000546.6(TP53):c.58del (p.Ser20fs) Deletion
Germline		 Chr17:7676536 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA645369693 rs_1131691018

1 SubmittersRCV000492768
NM_000546.6(TP53):c.254del (p.Pro85fs) Deletion
Germline		 Chr17:7676114 Pathogenic Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16620639 rs_1064793279

3 SubmittersRCV000486807RCV001856820RCV002289622RCV002289621
NM_000546.6(TP53):c.273_279del (p.Trp91fs) Deletion
Germline		 Chr17:7676089 Pathogenic/Likely pathogenic Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16620638 rs_1064796124

3 SubmittersRCV000479803RCV001865473RCV002289647RCV002289648
NM_000546.6(TP53):c.327_328del (p.Phe109fs) Deletion
Germline		 Chr17:7676040 Pathogenic/Likely pathogenic Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16620636 rs_1064795434

3 SubmittersRCV000479264RCV001053810RCV002289641RCV002289640
NM_000546.6(TP53):c.445del (p.Ser149fs) Deletion
Germline/somatic		 Chr17:7675166 Pathogenic Condition: not provided
Neoplasm of ovary
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16620632 rs_1064793929

4 SubmittersRCV000481047RCV000785501RCV003298548RCV003509543
NM_000546.6(TP53):c.783-16_783-15del Deletion
Germline		 Chr17:7673851 Conflicting classifications of pathogenicity Condition: not provided
not specified
Li-Fraumeni syndrome		 Criteria Provided
Conflicting Classifications
 CA16620618 rs_1064793810

3 SubmittersRCV000483618RCV002268118RCV002056744
NM_000546.6(TP53):c.790del (p.Leu264fs) Deletion
Germline		 Chr17:7673829 Pathogenic Li-Fraumeni syndrome
not specified
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16615995 rs_1060501194

3 SubmittersRCV000472594RCV000506102RCV002289593RCV002289592
NM_000546.6(TP53):c.448_460del (p.Thr150fs) Deletion
Germline		 Chr17:7675151 Pathogenic Li-Fraumeni syndrome
Condition: not provided
Adrenocortical carcinoma, hereditary
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16615954 rs_1064792930

5 SubmittersRCV000475282RCV000582435RCV003476028RCV004022608RCV004022607
NM_000546.6(TP53):c.560-4_560-2del Deletion
Germline		 Chr17:7674972 Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 CA16615727 rs_1060501212

1 SubmittersRCV000464864
NM_000546.6(TP53):c.716del (p.Asn239fs) Deletion
Germline		 Chr17:7674246 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 CA16615719 rs_1060501197

1 SubmittersRCV000460136
NM_000546.6(TP53):c.283_375+21del Deletion
Germline		 Chr17:7675972 Likely pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16615710 rs_1555526462

2 SubmittersRCV000458661RCV002436405
NC_000017.11:g.(?_7668402)_(7669690_?)del Deletion
Germline		 Chr17:-1 Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV000459773
NM_000546.6(TP53):c.310_329del (p.Gln104fs) Deletion
Germline		 Chr17:7676039 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA658656635 rs_1555526565

1 SubmittersRCV000570916
NC_000017.11:g.(?_7669603)_(7676600_?)del Deletion
Germline		 Chr17:-1 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV000633418
NM_000546.5(TP53):c.-202_-29+?del Deletion
Germline		 Chr17:-1 Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV000240300
NM_000546.6(TP53):c.116_117del (p.Ala39fs) Deletion
Unknown		 Chr17:7676251 Likely pathogenic Condition: not provided No Assertion Criteria Provided
 CA658683993 rs_1555526793

1 SubmittersRCV000582613
NM_000546.6(TP53):c.469_476del (p.Val157fs) Deletion
Unknown		 Chr17:7675135 Likely pathogenic Condition: not provided No Assertion Criteria Provided
 CA645589028 rs_1555526137

1 SubmittersRCV000583594
NM_000546.6(TP53):c.322_339del (p.Gly108_Phe113del) Deletion
Germline		 Chr17:7676029 Pathogenic/Likely pathogenic Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588673 rs_886039495

3 SubmittersRCV000255088RCV001855008RCV002288948RCV002288947
NM_000546.6(TP53):c.896_909del (p.Leu299fs) Deletion
Unknown		 Chr17:7673710 Pathogenic Condition: not provided No Assertion Criteria Provided
 CA645587421 rs_1555525054

1 SubmittersRCV000584285
NM_000546.6(TP53):c.970del (p.Asp324fs) Deletion
Unknown		 Chr17:7673557 Likely pathogenic Condition: not provided No Assertion Criteria Provided
 CA658683980 rs_1555524970

1 SubmittersRCV000583103
NM_000546.6(TP53):c.796_808del (p.Gly266fs) Deletion
Germline		 Chr17:7673811 Pathogenic Hereditary cancer-predisposing syndrome No Assertion Criteria Provided
 CA10590112 rs_886039855

1 SubmittersRCV000258052
NM_000546.6(TP53):c.257_279del (p.Ala86fs) Deletion
Germline		 Chr17:7676089 Pathogenic Condition: not provided
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603324 rs_886041861

3 SubmittersRCV000365382RCV000709410RCV002288956RCV002288957
NM_000546.6(TP53):c.626_627del (p.Arg209fs) Deletion
Germline/somatic		 Chr17:7674903 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Neoplasm of ovary
Li-Fraumeni syndrome 1
TP53-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16043138 rs_1057517840

7 SubmittersRCV000414120RCV000492427RCV000539085RCV000785270RCV002288983RCV003401397
NM_000546.6(TP53):c.509_512del (p.Thr170fs) Deletion
Germline		 Chr17:7675099 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Condition: not provided
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA658656581 rs_1555526082

5 SubmittersRCV000567372RCV001292985RCV000759376RCV001226822
NM_000546.6(TP53):c.533_540del (p.His178fs) Deletion
Somatic		 Chr17:7675071 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567552637

1 SubmittersRCV000785267
NM_000546.6(TP53):c.754del (p.Leu252fs) Deletion
Germline		 Chr17:7674208 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA497717227 rs_1555525470

1 SubmittersRCV000575325
NM_000546.6(TP53):c.838_846del (p.Asp281_Arg283del) Deletion
Germline		 Chr17:7673773 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA658656537 rs_1555525215

1 SubmittersRCV000568716
NM_000546.6(TP53):c.950del (p.Gln317fs) Deletion
Germline		 Chr17:7673577 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA645587369 rs_1555524976

1 SubmittersRCV000561039
NM_000546.6(TP53):c.714del (p.Met237_Cys238insTer) Deletion
Germline		 Chr17:7674248 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA658656525 rs_1555525537

1 SubmittersRCV000572072
NM_000546.6(TP53):c.655_670del (p.Pro219fs) Deletion
Germline		 Chr17:7674860 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA658656530 rs_1555525710

1 SubmittersRCV000569731
NM_000546.6(TP53):c.1140del (p.His380fs) Deletion
Germline		 Chr17:7669650 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
7 conditions		 Criteria Provided
Conflicting Classifications
 CA658656517 rs_1555524108

2 SubmittersRCV000537354RCV003483656
NM_000546.6(TP53):c.848_857del (p.Arg283fs) Deletion
Germline		 Chr17:7673762 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 CA658656535 rs_1555525170

1 SubmittersRCV000552974
NM_000546.6(TP53):c.112del (p.Gln38fs) Deletion
Germline		 Chr17:7676256 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 CA645589425 rs_1555526795

1 SubmittersRCV000544374
NM_000546.6(TP53):c.715_724del (p.Asn239fs) Deletion
Germline		 Chr17:7674238 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 CA658656524 rs_1555525518

1 SubmittersRCV000545435
NM_000546.6(TP53):c.990_993del (p.Gln331fs) Deletion
Germline		 Chr17:7673534 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 CA658656523 rs_1555524949

1 SubmittersRCV000540169
NC_000017.11:g.(?_7669603)_(7670721_?)del Deletion
Germline		 Chr17:-1 Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV000528286
NM_000546.6(TP53):c.328_339del (p.Arg110_Phe113del) Deletion
Germline		 Chr17:7676029 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA000115 rs_587782490

1 SubmittersRCV000131618
NM_000546.6(TP53):c.721del (p.Ser241fs) Deletion
Germline		 Chr17:7674241 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2073256180

1 SubmittersRCV001231815
NM_000546.6(TP53):c.920-14_920-3del Deletion
Germline		 Chr17:7673610 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_768598540

3 SubmittersRCV001203313RCV002256694RCV002290635
NM_000546.6(TP53):c.128del (p.Asp42_Leu43insTer) Deletion
Germline		 Chr17:7676240 Pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2073485631

2 SubmittersRCV001209064RCV002379791
NM_000546.6(TP53):c.409_417del (p.Leu137_Lys139del) Deletion
Germline		 Chr17:7675194 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2073395622

2 SubmittersRCV001213890RCV004033914
NM_000546.6(TP53):c.708_713del (p.Met237_Cys238del) Deletion
Germline		 Chr17:7674249 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2073260066

1 SubmittersRCV001206316
NM_000546.6(TP53):c.807del (p.Phe270fs) Deletion
Germline		 Chr17:7673812 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2073203788

1 SubmittersRCV001203079
NM_000546.6(TP53):c.320_327del (p.Tyr107fs) Deletion
Germline		 Chr17:7676041 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2073457407

1 SubmittersRCV001216547
NM_000546.6(TP53):c.447_459del (p.Thr150fs) Deletion
Germline		 Chr17:7675152 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA000192 rs_137852790

1 SubmittersRCV000131407
NM_000546.6(TP53):c.569_586del (p.Pro190_Ile195del) Deletion
Germline		 Chr17:7674944 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2073341609

1 SubmittersRCV001220073
NM_000546.6(TP53):c.988del (p.Leu330fs) Deletion
Germline		 Chr17:7673539 Pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2073149039

4 SubmittersRCV001224266RCV002379851RCV003483797
NM_000546.6(TP53):c.343del (p.His115fs) Deletion
Germline		 Chr17:7676025 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 rs_2073453049

1 SubmittersRCV001179140
NM_000546.6(TP53):c.602del (p.Leu201fs) Deletion
Germline		 Chr17:7674928 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 rs_2073338748

1 SubmittersRCV001186467
NM_000546.6(TP53):c.565_566del (p.Ala189fs) Deletion
Germline		 Chr17:7674964 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2073347757

1 SubmittersRCV001225431
NM_000546.6(TP53):c.927del (p.Asn310fs) Deletion
Germline		 Chr17:7673600 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 rs_2073160651

1 SubmittersRCV001091168
NM_000546.6(TP53):c.560-19_560-9del Deletion
Germline		 Chr17:7674979 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2073351094

3 SubmittersRCV001058103RCV002348427RCV004031834
NM_000546.6(TP53):c.472_477del (p.Arg158_Ala159del) Deletion
Germline		 Chr17:7675134 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2073379319

1 SubmittersRCV001064538
NM_000546.6(TP53):c.529_546del (p.Pro177_Cys182del) Deletion
Germline		 Chr17:7675065 Conflicting classifications of pathogenicity Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Conflicting Classifications
 rs_2073361326

3 SubmittersRCV001042929RCV003160297RCV004031305
NM_000546.6(TP53):c.644del (p.Ser215fs) Deletion
Germline		 Chr17:7674886 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2073327702

1 SubmittersRCV001071471
NM_000546.6(TP53):c.686_687del (p.Cys229fs) Deletion
Germline		 Chr17:7674275 Pathogenic Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2073266408

2 SubmittersRCV001070462RCV004030750
NM_000546.6(TP53):c.267del (p.Ser90fs) Deletion
Germline		 Chr17:7676101 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter
 CA000091 rs_587783062

2 SubmittersRCV000144663
NM_000546.6(TP53):c.754_762del (p.Leu252_Ile254del) Deletion
Germline		 Chr17:7674200 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2073243450

3 SubmittersRCV001046315RCV002393228RCV004031432
NM_000546.6(TP53):c.853_856del (p.Glu285fs) Deletion
Germline		 Chr17:7673763 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2073186772

1 SubmittersRCV001054016
NM_000546.6(TP53):c.870_873del (p.Lys292fs) Deletion
Germline		 Chr17:7673746 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2073181967

1 SubmittersRCV001058496
NM_000546.6(TP53):c.277_278del (p.Leu93fs) Deletion
Germline		 Chr17:7676090 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 rs_1597374098

1 SubmittersRCV001016546
NM_000546.6(TP53):c.687_695del (p.Thr230_Ile232del) Deletion
Germline		 Chr17:7674267 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2073264695

1 SubmittersRCV001324191
NM_000546.6(TP53):c.723del (p.Cys242fs) Deletion
Germline		 Chr17:7674239 Pathogenic Li-Fraumeni syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2151021244

4 SubmittersRCV001387602RCV002465871RCV003375276RCV004037688
NM_000546.6(TP53):c.801del (p.Asn268fs) Deletion
Germline		 Chr17:7673818 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_1597362206

1 SubmittersRCV001380471
NM_000546.6(TP53):c.814_826del (p.Val272fs) Deletion
Germline		 Chr17:7673793 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151016140

1 SubmittersRCV001390460
NM_000546.6(TP53):c.919+1del Deletion
Germline		 Chr17:7673699 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151013712

1 SubmittersRCV001380071
NM_000546.6(TP53):c.96+1del Deletion
Germline		 Chr17:7676380 Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151045418

1 SubmittersRCV001378620
NM_000546.6(TP53):c.509_520del (p.Thr170_Val173del) Deletion
Germline		 Chr17:7675091 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2151030744

2 SubmittersRCV001379194RCV002341822
NM_000546.6(TP53):c.1043del (p.Leu348fs) Deletion
Germline		 Chr17:7670665 Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2150994688

1 SubmittersRCV001378059
NM_000546.6(TP53):c.1052del (p.Lys351fs) Deletion
Germline		 Chr17:7670656 Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2150994507

1 SubmittersRCV001377144
NM_000546.6(TP53):c.737_745del (p.Met246_Arg248del) Deletion
Germline		 Chr17:7674217 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151020665

1 SubmittersRCV001360150
NM_000546.6(TP53):c.731del (p.Gly244fs) Deletion
Germline		 Chr17:7674231 Pathogenic Malignant tumor of breast
Li-Fraumeni syndrome		 Criteria Provided
Single Submitter
 rs_2151021047

2 SubmittersRCV001357688RCV002548522
NM_000546.6(TP53):c.653_655del (p.Val218_Pro219delinsAla) Deletion
Germline		 Chr17:7674875 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2073324574

1 SubmittersRCV001349680
NM_000546.6(TP53):c.1125del (p.Gln375fs) Deletion
Germline		 Chr17:7669665 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA000041 rs_730882017

1 SubmittersRCV000161058
NM_000546.6(TP53):c.97-6_129del Deletion
Germline		 Chr17:7676239 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 rs_2073485358

1 SubmittersRCV001293871
NM_000546.6(TP53):c.808_817del (p.Phe270fs) Deletion
Germline		 Chr17:7673802 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA000425 rs_587781987

1 SubmittersRCV000130388
NM_000546.6(TP53):c.124_132del (p.Asp42_Met44del) Deletion
Unknown		 Chr17:7676236 Pathogenic Malignant tumor of breast Criteria Provided
Single Submitter
 rs_2151043202

1 SubmittersRCV001391304
NM_000546.6(TP53):c.431_433del (p.Gln144del) Deletion
Somatic		 Chr17:7675178 Pathogenic Colorectal cancer Criteria Provided
Single Submitter
 rs_2073391946

1 SubmittersRCV001265631
NM_000546.6(TP53):c.628_639del (p.Asn210_Arg213del) Deletion
Somatic		 Chr17:7674891 Pathogenic Malignant tumor of esophagus Criteria Provided
Single Submitter
 rs_2073329654

1 SubmittersRCV001265630
NM_000546.6(TP53):c.851_855del (p.Thr284fs) Deletion
Somatic		 Chr17:7673764 Pathogenic Familial cancer of breast Criteria Provided
Single Submitter
 rs_2073187136

1 SubmittersRCV001265629
NM_000546.6(TP53):c.892del (p.Glu298fs) Deletion
Germline		 Chr17:7673727 Pathogenic/Likely pathogenic Condition: not provided
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2073177507

3 SubmittersRCV001262727RCV001880046RCV002290669RCV002290668
NM_000546.6(TP53):c.376-196_566del Deletion
Germline		 Chr17:7674964 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV001235008
NM_000546.6(TP53):c.314_324del (p.Gly105fs) Deletion
Germline		 Chr17:7676044 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2073458214

1 SubmittersRCV001239658
NM_000546.6(TP53):c.573del (p.Gln192fs) Deletion
Germline		 Chr17:7674957 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2073345648

1 SubmittersRCV001239278
NM_000546.6(TP53):c.324_335del (p.Arg110_Phe113del) Deletion
Germline		 Chr17:7676033 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2073454735

1 SubmittersRCV001225317
NM_000546.6(TP53):c.284_288del (p.Ser95fs) Deletion
Somatic		 Chr17:7676080 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_878854068

1 SubmittersRCV000785322
NM_000546.6(TP53):c.945del (p.Gln317fs) Deletion
Germline		 Chr17:7673582 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_1597359548

1 SubmittersRCV000821889
NM_000546.6(TP53):c.394_409del (p.Lys132fs) Deletion
Germline		 Chr17:7675202 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA000156 rs_786203589

1 SubmittersRCV000166969
NM_000546.6(TP53):c.97-2del Deletion
Somatic		 Chr17:7676273 Likely pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567557258

1 SubmittersRCV000785549
NM_000546.6(TP53):c.672+1del Deletion
Somatic		 Chr17:7674857 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567550969

1 SubmittersRCV000785464
NM_000546.6(TP53):c.994-22_1003del Deletion
Somatic		 Chr17:7670705 Likely pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567542245

1 SubmittersRCV000785526
NM_000546.6(TP53):c.176del (p.Gly59fs) Deletion
Somatic		 Chr17:7676192 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567556784

1 SubmittersRCV000785292
NM_000546.6(TP53):c.247del (p.Ala83fs) Deletion
Somatic		 Chr17:7676121 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_867725248

1 SubmittersRCV000785281
NM_000546.6(TP53):c.246_253del (p.Ala83fs) Deletion
Somatic		 Chr17:7676115 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567556270

1 SubmittersRCV000785483
NM_000546.6(TP53):c.260_270del (p.Pro87fs) Deletion
Somatic		 Chr17:7676098 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567556165

1 SubmittersRCV000785459
NM_000546.6(TP53):c.277del (p.Leu93fs) Deletion
Somatic		 Chr17:7676091 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567556123

1 SubmittersRCV000785294
NM_000546.6(TP53):c.278del (p.Leu93fs) Deletion
Somatic		 Chr17:7676090 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567556114

1 SubmittersRCV000785287
NM_000546.6(TP53):c.651_666del (p.Val218fs) Deletion
Germline		 Chr17:7674864 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000310 rs_786202315

3 SubmittersRCV000165061RCV001385537RCV002288740
NM_000546.6(TP53):c.298del (p.Gln100fs) Deletion
Somatic		 Chr17:7676070 Pathogenic Neoplasm of ovary
Malignant tumor of esophagus		 Criteria Provided
Single Submitter
 rs_1567556006

2 SubmittersRCV000785260RCV001265627
NM_000546.6(TP53):c.310del (p.Gln104fs) Deletion
Somatic		 Chr17:7676058 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567555939

1 SubmittersRCV000785246
NM_000546.6(TP53):c.361_371del (p.Ser121fs) Deletion
Somatic		 Chr17:7675997 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567555504

1 SubmittersRCV000785255
NM_000546.6(TP53):c.376del (p.Tyr126fs) Deletion
Somatic		 Chr17:7675235 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567554542

1 SubmittersRCV000785318
NM_000546.6(TP53):c.393del (p.Asn131fs) Deletion
Germline/somatic		 Chr17:7675218 Conflicting classifications of pathogenicity Neoplasm of ovary
Prostate cancer, hereditary, 1		 No Assertion Criteria Provided
 rs_1567554408

2 SubmittersRCV000785315RCV003483721
NM_000546.6(TP53):c.439del (p.Val147fs) Deletion
Germline/somatic		 Chr17:7675172 Pathogenic Neoplasm of ovary
Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1567553924

3 SubmittersRCV000785251RCV003509607RCV004027336
NM_000546.6(TP53):c.455del (p.Pro152fs) Deletion
Germline/somatic		 Chr17:7675156 Pathogenic Neoplasm of ovary
Li-Fraumeni syndrome		 Criteria Provided
Single Submitter
 rs_730882019

2 SubmittersRCV000785525RCV001203494
NM_000546.6(TP53):c.460_463del (p.Gly154fs) Deletion
Somatic		 Chr17:7675148 Pathogenic Neoplasm of ovary
Lung sarcomatoid carcinoma		 No Assertion Criteria Provided
 rs_1567553658

2 SubmittersRCV000785249RCV003322617
NM_000546.6(TP53):c.458_466del (p.Pro153_Thr155del) Deletion
Somatic		 Chr17:7675145 Likely pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567553613

1 SubmittersRCV000785244
NM_000546.6(TP53):c.471_474del (p.Arg158fs) Deletion
Somatic		 Chr17:7675137 Pathogenic Neoplasm of ovary No Assertion Criteria Provided
 rs_1567553514

1 SubmittersRCV000785488
NM_000546.6(TP53):c.636del (p.Arg213fs) Deletion
Germline/somatic		 Chr17:7674894 Pathogenic Acute megakaryoblastic leukemia
Mediastinal germ cell tumor
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Reviewed By Expert Panel
 CA248848 rs_864309495

6 SubmittersRCV000202592RCV001527089RCV001853261RCV002363022RCV001576599
NC_000017.11:g.(?_7687606)_(7688293_?)del Deletion
Germline		 Chr17:-1 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV000808640
NM_000546.6(TP53):c.325_328del (p.Phe109fs) Deletion
Germline		 Chr17:7676040 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 rs_1597373769

1 SubmittersRCV001019446
NM_000546.6(TP53):c.357del (p.Lys120fs) Deletion
Germline		 Chr17:7676011 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 rs_1597373517

1 SubmittersRCV001020652
NM_000546.6(TP53):c.390_426del (p.Asn131fs) Deletion
Germline		 Chr17:7675185 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Familial cancer of breast
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1597371154

4 SubmittersRCV001021398RCV002290543RCV002249634RCV001861020
NM_000546.6(TP53):c.563del (p.Leu188fs) Deletion
Germline		 Chr17:7674967 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1597368970

3 SubmittersRCV001024354RCV002290551RCV002236256
NM_000546.6(TP53):c.569del (p.Pro190fs) Deletion
Germline		 Chr17:7674961 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 rs_1597368891

1 SubmittersRCV001024420
NM_000546.6(TP53):c.642_643del (p.His214fs) Deletion
Germline		 Chr17:7674887 Pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Li-Fraumeni syndrome 1
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1597368095

4 SubmittersRCV001025251RCV002067687RCV002290557RCV001384200
NM_000546.6(TP53):c.685_692del (p.Cys229fs) Deletion
Germline		 Chr17:7674270 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA000329 rs_730882016

1 SubmittersRCV000161057
NM_000546.6(TP53):c.951_954del (p.Pro318fs) Deletion
Germline		 Chr17:7673573 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 rs_1597359403

1 SubmittersRCV001019436
NM_000546.6(TP53):c.1019_1028del (p.Met340fs) Deletion
Germline		 Chr17:7670680 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 rs_1597349257

1 SubmittersRCV001009690
NM_000546.6(TP53):c.416del (p.Lys139fs) Deletion
Germline		 Chr17:7675195 Pathogenic not specified Criteria Provided
Single Submitter
 rs_1597371266

1 SubmittersRCV001001038
NM_000546.6(TP53):c.294_297del (p.Ser99fs) Deletion
Germline		 Chr17:7676071 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA000095 rs_730882015

3 SubmittersRCV000161056RCV002288697
NM_000546.6(TP53):c.690_702del (p.Ile232fs) Deletion
Germline		 Chr17:7674260 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_2151021948

1 SubmittersRCV001382937
NC_000017.11:g.(?_7669599)_(7688293_?)del Deletion
Germline		 Chr17:-1 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV000816616
NM_000546.6(TP53):c.917_919+15del Deletion
Germline		 Chr17:7673685 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_1597360140

1 SubmittersRCV000817451
NC_000017.11:g.(?_7669599)_(8382320_?)del Deletion
Germline		 Chr17:-1 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV000803922
NM_000546.6(TP53):c.250del (p.Ala84fs) Deletion
Germline		 Chr17:7676118 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_1597374343

1 SubmittersRCV000800285
NM_000546.6(TP53):c.906del (p.Ser303fs) Deletion
Germline		 Chr17:7673713 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter
 CA000489 rs_786202055

1 SubmittersRCV000164675
NM_000546.6(TP53):c.383del (p.Pro128fs) Deletion
Germline/somatic		 Chr17:7675228 Pathogenic Li-Fraumeni syndrome
Squamous cell carcinoma of the head and neck
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Prostate cancer, hereditary, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1597371666

5 SubmittersRCV000816708RCV001270261RCV002290463RCV002290462RCV003483739
NM_000546.6(TP53):c.551_554del (p.Asp184fs) Deletion
Germline		 Chr17:7675057 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_1597369519

1 SubmittersRCV000792730
NM_000546.6(TP53):c.711del (p.Met237fs) Deletion
Germline		 Chr17:7674251 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_1597365138

1 SubmittersRCV000821784
NM_000546.6(TP53):c.716_721del (p.Asn239_Ser241delinsThr) Deletion
Germline		 Chr17:7674241 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_1597364867

1 SubmittersRCV000798281
NM_000546.6(TP53):c.730_738del (p.Gly244_Met246del) Deletion
Germline		 Chr17:7674224 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter
 rs_1597364514

1 SubmittersRCV000806594
NM_000546.6(TP53):c.788del (p.Asn263fs) Deletion
Germline/somatic		 Chr17:7673831 Pathogenic Li-Fraumeni syndrome
Chronic myelogenous leukemia, BCR-ABL1 positive		 Criteria Provided
Single Submitter
 rs_1597362423

2 SubmittersRCV000797009RCV004576970
NM_000546.6(TP53):c.459del (p.Gly154fs) Deletion
Germline		 Chr17:7675152 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV003338137
NM_000546.6(TP53):c.456del (p.Gly154fs) Deletion
Unknown		 Chr17:7675155 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004442435
NM_000546.6(TP53):c.321_331del (p.Phe109fs) Deletion
Unknown		 Chr17:7676037 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440407
NM_000546.6(TP53):c.652del (p.Val218fs) Deletion
Somatic		 Chr17:7674878 Likely pathogenic Adrenal cortex carcinoma No Assertion Criteria Provided

1 SubmittersRCV004011264
NM_000546.6(TP53):c.64del (p.Leu22fs) Deletion
Unknown		 Chr17:7676530 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004442404
NM_000546.6(TP53):c.722_724del (p.Ser241del) Deletion
Somatic		 Chr17:7674238 Likely pathogenic Adrenal cortex carcinoma No Assertion Criteria Provided

1 SubmittersRCV004011263
NM_000546.6(TP53):c.858del (p.Glu287fs) Deletion
Unknown		 Chr17:7673761 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004442423
NM_000546.6(TP53):c.804del (p.Asn268fs) Deletion
Unknown		 Chr17:7673815 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004442521
NM_000546.6(TP53):c.368del (p.Thr123fs) Deletion
Unknown		 Chr17:7676000 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440381
NM_000546.6(TP53):c.710_718del (p.Met237_Asn239del) Deletion
Germline		 Chr17:7674244 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003339028
NM_000546.6(TP53):c.533del (p.His178fs) Deletion
Germline		 Chr17:7675078 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003341666
NM_000546.6(TP53):c.473_477del (p.Arg158fs) Deletion
Germline		 Chr17:7675134 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003339032
NM_000546.6(TP53):c.376-6_376del Deletion
Unknown		 Chr17:7675235 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440363
NM_000546.6(TP53):c.708_715del (p.Tyr236_Asn239delinsTer) Deletion
Unknown		 Chr17:7674247 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440354
NM_000546.6(TP53):c.316_336del (p.Ser106_Gly112del) Deletion
Unknown		 Chr17:7676032 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440353
NM_000546.6(TP53):c.779_782+13del Deletion
Germline		 Chr17:7674167 Pathogenic TP53-related disorder Criteria Provided
Single Submitter

1 SubmittersRCV003391538
NM_000546.6(TP53):c.481del (p.Ala161fs) Deletion
Unknown		 Chr17:7675130 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440333
NM_000546.6(TP53):c.722_728del (p.Ser241fs) Deletion
Germline		 Chr17:7674234 Pathogenic/Likely pathogenic Adrenocortical carcinoma, hereditary
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003474129RCV004364799
NM_000546.6(TP53):c.245_260del (p.Pro82fs) Deletion
Unknown		 Chr17:7676108 Likely pathogenic Adrenocortical carcinoma, hereditary Criteria Provided
Single Submitter

1 SubmittersRCV003474131
NM_000546.6(TP53):c.613_618del (p.Tyr205_Leu206del) Deletion
Unknown		 Chr17:7674912 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440309
NM_000546.6(TP53):c.717del (p.Asn239fs) Deletion
Unknown		 Chr17:7674245 Likely pathogenic Adrenocortical carcinoma, hereditary Criteria Provided
Single Submitter

1 SubmittersRCV003474133
NM_000546.6(TP53):c.380_416del (p.Tyr126_Ser127insTer) Deletion
Germline		 Chr17:7675195 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004518770
NM_000546.6(TP53):c.286del (p.Ser96fs) Deletion
Germline		 Chr17:7676082 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003055844
NM_000546.6(TP53):c.267_277del (p.Ser90fs) Deletion
Germline		 Chr17:7676091 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003064004
NM_000546.6(TP53):c.306del (p.Tyr103fs) Deletion
Unknown		 Chr17:7676062 Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004556988
NM_000546.6(TP53):c.837_846del (p.Arg280fs) Deletion
Germline		 Chr17:7673773 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004518782
NM_000546.6(TP53):c.801_818del (p.Asn268_Arg273del) Deletion
Germline		 Chr17:7673801 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004518780
NM_000546.6(TP53):c.782+2_782+8del Deletion
Germline		 Chr17:7674172 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004518779
NM_000546.6(TP53):c.769del (p.Leu257fs) Deletion
Germline		 Chr17:7674193 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004518778
NM_000546.6(TP53):c.576del (p.Gln192fs) Deletion
Somatic		 Chr17:7674954 Pathogenic Acute myeloid leukemia No Assertion Criteria Provided

1 SubmittersRCV003159586
NM_000546.6(TP53):c.700_702del (p.Tyr234del) Deletion
Germline		 Chr17:7674260 Likely pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004518776
NM_000546.6(TP53):c.683_686del (p.Asp228fs) Deletion
Germline		 Chr17:7674276 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004518775
NM_000546.6(TP53):c.643del (p.Ser215fs) Deletion
Germline		 Chr17:7674887 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004518774
NM_000546.6(TP53):c.314_329del (p.Gly105fs) Deletion
Unknown		 Chr17:7676039 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004442478
NM_000546.6(TP53):c.97-4_104del Deletion
Germline		 Chr17:7676264 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003171491
NM_000546.6(TP53):c.1005_1010del (p.Glu336_Arg337del) Deletion
Germline		 Chr17:7670698 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003177170
NM_000546.6(TP53):c.168del (p.Asp57fs) Deletion
Germline		 Chr17:7676200 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003177171
NM_000546.6(TP53):c.121del (p.Asp41fs) Deletion
Germline		 Chr17:7676247 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003177177
NM_000546.6(TP53):c.880del (p.Glu294fs) Deletion
Germline		 Chr17:7673739 Pathogenic Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003196404RCV003779624
NM_000546.6(TP53):c.427del (p.Val143fs) Deletion
Germline		 Chr17:7675184 Pathogenic Hereditary cancer-predisposing syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003301853
NM_000546.6(TP53):c.477del (p.Met160fs) Deletion
Unknown		 Chr17:7675134 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004442540
NM_000546.6(TP53):c.1039del (p.Ala347fs) Deletion
Germline		 Chr17:7670669 Likely pathogenic Hereditary breast ovarian cancer syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003482187
NM_000546.6(TP53):c.489_495del (p.Lys164fs) Deletion
Germline		 Chr17:7675116 Likely pathogenic Li-Fraumeni syndrome 1 No Assertion Criteria Provided

1 SubmittersRCV003485930
NM_000546.6(TP53):c.783-8_784del Deletion
Unknown		 Chr17:7673835 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004442501
NM_000546.6(TP53):c.719_734del (p.Ser240fs) Deletion
Germline		 Chr17:7674228 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003622566
NM_000546.6(TP53):c.560-22_560del Deletion
Unknown		 Chr17:7674970 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440102
NM_000546.6(TP53):c.681del (p.Asp228fs) Deletion
Unknown		 Chr17:7674281 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440083
NM_000546.6(TP53):c.323del (p.Gly108fs) Deletion
Germline		 Chr17:7676045 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003509016
NM_000546.6(TP53):c.529_543del (p.Pro177_Arg181del) Deletion
Germline		 Chr17:7675068 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003509352
NM_000546.6(TP53):c.539_545del (p.Glu180fs) Deletion
Unknown		 Chr17:7675066 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440044
NM_000546.6(TP53):c.850_860del (p.Thr284fs) Deletion
Unknown		 Chr17:7673759 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440029
NM_000546.6(TP53):c.920del (p.Ala307fs) Deletion
Germline		 Chr17:7673607 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003510088
NM_000546.6(TP53):c.759_767del (p.Ile254_Thr256del) Deletion
Germline		 Chr17:7674195 Pathogenic/Likely pathogenic Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003510089RCV004369428
NM_000546.6(TP53):c.556del (p.Asp186fs) Deletion
Unknown		 Chr17:7675055 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004439932
NM_000546.6(TP53):c.567_577del (p.Pro190fs) Deletion
Germline		 Chr17:7674953 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003510390
NM_000546.6(TP53):c.225del (p.Ala76fs) Deletion
Germline		 Chr17:7676143 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003510960
NM_000546.6(TP53):c.630_634del (p.Thr211fs) Deletion
Unknown		 Chr17:7674896 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440119
NM_000546.6(TP53):c.1022del (p.Phe341fs) Deletion
Germline		 Chr17:7670686 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003623385
NM_000546.6(TP53):c.786_796del (p.Asn263fs) Deletion
Germline		 Chr17:7673823 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003622561
NM_000546.6(TP53):c.331_332del (p.Leu111fs) Deletion
Germline		 Chr17:7676036 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003623188
NM_000546.6(TP53):c.562del (p.Leu188fs) Deletion
Germline		 Chr17:7674968 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003623135
NM_000546.6(TP53):c.119del (p.Met40fs) Deletion
Germline		 Chr17:7676249 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003623107
NM_000546.6(TP53):c.279del (p.Ser94fs) Deletion
Germline		 Chr17:7676089 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003622595
NM_000546.6(TP53):c.323_329del (p.Gly108fs) Deletion
Germline		 Chr17:7676039 Pathogenic Li-Fraumeni syndrome
Li-Fraumeni syndrome 1		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003622926RCV004371745
NM_000546.6(TP53):c.728_739del (p.Met243_Met246del) Deletion
Germline		 Chr17:7674223 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003622922
NM_000546.6(TP53):c.540del (p.Glu180fs) Deletion
Germline		 Chr17:7675071 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003622903
NM_000546.6(TP53):c.713_727del (p.Cys238_Met243delinsLeu) Deletion
Germline		 Chr17:7674235 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003622910
NM_000546.6(TP53):c.581_584del (p.Leu194fs) Deletion
Germline		 Chr17:7674946 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003622707
NM_000546.6(TP53):c.382_383del (p.Pro128fs) Deletion
Unknown		 Chr17:7675228 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440221
NM_000546.6(TP53):c.564_581del (p.Ala189_Leu194del) Deletion
Unknown		 Chr17:7674949 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440292
NM_000546.6(TP53):c.896_899del (p.Leu299fs) Deletion
Unknown		 Chr17:7673720 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440289
NM_000546.6(TP53):c.781del (p.Ser261fs) Deletion
Germline		 Chr17:7674181 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003622743
NM_000546.6(TP53):c.635_645del (p.Phe212fs) Deletion
Unknown		 Chr17:7674885 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440286
NM_000546.6(TP53):c.560-15_560-5del Deletion
Germline		 Chr17:7674975 Likely pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003484508
NM_000546.6(TP53):c.422_433del (p.Cys141_Gln144del) Deletion
Unknown		 Chr17:7675178 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440276
NM_000546.6(TP53):c.516del (p.Val172_Val173insTer) Deletion
Germline		 Chr17:7675095 Pathogenic Prostate cancer, hereditary, 1
Li-Fraumeni syndrome		 Criteria Provided
Single Submitter

2 SubmittersRCV003484923RCV003621714
NM_000546.6(TP53):c.659_660del (p.Pro219_Tyr220insTer) Deletion
Unknown		 Chr17:7674870 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440254
NM_000546.6(TP53):c.470_475del (p.Val157_Arg158del) Deletion
Unknown		 Chr17:7675136 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440249
NM_000546.6(TP53):c.279_286del (p.Ser94fs) Deletion
Germline		 Chr17:7676082 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003510600
NM_000546.6(TP53):c.693del (p.Ile232fs) Deletion
Germline		 Chr17:7674269 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003509846
NM_000546.6(TP53):c.325_330del (p.Phe109_Arg110del) Deletion
Unknown		 Chr17:7676038 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440297
NM_000546.6(TP53):c.960del (p.Lys321fs) Deletion
Germline		 Chr17:7673567 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003510460
NM_000546.6(TP53):c.565del (p.Ala189fs) Deletion
Unknown		 Chr17:7674965 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440189
NM_000546.6(TP53):c.792_794del (p.Leu265del) Deletion
Unknown		 Chr17:7673825 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440188
NM_000546.6(TP53):c.637_660del (p.Arg213_Tyr220del) Deletion
Unknown		 Chr17:7674870 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440172
NM_000546.6(TP53):c.642del (p.His214fs) Deletion
Unknown		 Chr17:7674888 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440166
NM_000546.6(TP53):c.1024_1025del (p.Glu343fs) Deletion
Germline		 Chr17:7670683 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003511282
NM_000546.6(TP53):c.770_772del (p.Leu257_Glu258delinsGln) Deletion
Unknown		 Chr17:7674190 Likely pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440158
NM_000546.6(TP53):c.635_642del (p.Thr211_Phe212insTer) Deletion
Germline		 Chr17:7674888 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003511114
NM_000546.6(TP53):c.837del (p.Arg280fs) Deletion
Germline		 Chr17:7673782 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003509013
NM_000546.6(TP53):c.387_393del (p.Leu130fs) Deletion
Unknown		 Chr17:7675218 Pathogenic Li-Fraumeni syndrome 1 Criteria Provided
Single Submitter

1 SubmittersRCV004440137
NM_000546.6(TP53):c.706_708del (p.Tyr236del) Deletion
Germline		 Chr17:7674254 Pathogenic Li-Fraumeni syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003509014