Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912664
rs121912664
0.900 GeneticVariation UNIPROT An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. 8825920

1995

dbSNP: rs121912664
rs121912664
0.900 GeneticVariation UNIPROT Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family. 10484981

1999

dbSNP: rs121912664
rs121912664
0.900 GeneticVariation BEFREE These findings indicate that R337H may be a low penetrance mutant which predisposes to multiple cancers and occurs in the population of Southern Brazil at a frequency 10-20 times higher than other TP53 mutants commonly associated with LFS. 18248785

2008

dbSNP: rs121912664
rs121912664
0.900 GeneticVariation BEFREE Mutation of Arg337 to histidine in the tetramerization domain of p53 is most frequently observed in Li-Fraumeni syndrome. 20605095

2010

dbSNP: rs121912664
rs121912664
G 0.900 GeneticVariation CLINVAR Distinct prognostic values of p53 mutations and loss of estrogen receptor and their cumulative effect in primary breast cancers. 10719737

2000

dbSNP: rs121912664
rs121912664
G 0.900 GeneticVariation CLINVAR The relationship among p53 oligomer formation, structure and transcriptional activity using a comprehensive missense mutation library. 16007150

2005

dbSNP: rs121912664
rs121912664
0.900 GeneticVariation UNIPROT Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia. 1737852

1992

dbSNP: rs121912664
rs121912664
0.900 GeneticVariation BEFREE Overall, 101 of 193 TP53 p.R337H mutation carriers with LFS from 58 families were cancer affected and, among them, thyroid carcinoma presented a prevalence of 10.9% (3 men and 8 women). 28114597

2017

dbSNP: rs121912664
rs121912664
0.900 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721

2014

dbSNP: rs121912664
rs121912664
0.900 GeneticVariation BEFREE Analysis of the patterns of 103 tumors diagnosed in 12 families showed that the presence of p.R337H is associated with multiple cancers of the Li-Fraumeni Syndrome (LFS) spectrum, with relatively low penetrance before the age of 30 but a lifetime risk comparable to classical LFS. 19877175

2010

dbSNP: rs121912664
rs121912664
0.900 GeneticVariation BEFREE We compared the CNV profiles of controls, and LFS individuals carrying either p.R337H or DNA binding domain (DBD) TP53 mutations by high resolution array-CGH. 23259501

2012

dbSNP: rs121912664
rs121912664
0.900 GeneticVariation UNIPROT A germ line mutation in exon 5 of the p53 gene in an extended cancer family. 1933902

1991

dbSNP: rs121912664
rs121912664
0.900 GeneticVariation UNIPROT American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. 12692171

2003

dbSNP: rs121912664
rs121912664
0.900 GeneticVariation BEFREE The p.R337H mutation in TP53 gene was found in one patient clinically diagnosed as HBOC and without clinical criteria for Li-Fraumeni syndrome. 30535581

2019

dbSNP: rs121912664
rs121912664
G 0.900 GeneticVariation CLINVAR Evaluation of transcriptional activity of p53 in individual living mammalian cells. 19454241

2009

dbSNP: rs121912664
rs121912664
0.900 GeneticVariation BEFREE Clinical spectrum of Li-Fraumeni syndrome/Li-Fraumeni-like syndrome in Brazilian individuals with the TP53 p.R337H mutation. 30974190

2019

dbSNP: rs121912664
rs121912664
0.900 GeneticVariation BEFREE In Brazil, the p.R337H TP53 founder mutation causes the variant form of LFS, Li-Fraumeni-like syndrome. 25945745

2015

dbSNP: rs121912664
rs121912664
0.900 GeneticVariation UNIPROT Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. 1565144

1992

dbSNP: rs121912664
rs121912664
0.900 GeneticVariation UNIPROT Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. 1978757

1990

dbSNP: rs121912664
rs121912664
0.900 GeneticVariation UNIPROT Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. 2259385

1991

dbSNP: rs121912664
rs121912664
0.900 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017

dbSNP: rs121912664
rs121912664
G 0.900 GeneticVariation CLINVAR p53 status correlates with the differential expression of the DNA mismatch repair protein MSH2 in non-small cell lung carcinoma. 12209975

2002

dbSNP: rs121912664
rs121912664
0.900 GeneticVariation BEFREE In this cohort of patients with LFS enriched in TP53 p.R337H pathogenic variant, the incidence of RIMs after treatment of localized breast cancer was lower than previous literature. 31748977

2020

dbSNP: rs121912664
rs121912664
0.900 GeneticVariation UNIPROT A germline missense mutation R337C in exon 10 of the human p53 gene. 9452042

1998

dbSNP: rs121912664
rs121912664
0.900 GeneticVariation BEFREE The arginine to histidine substitution at amino acid position 337 of p53 (R337H) is a founder mutation highly prevalent in southern and southeastern Brazil and is considered an LFS mutation. 30042151

2018