Submissions for variant NM_000546.6(TP53):c.215C>G (p.Pro72Arg)

gnomAD frequency: 0.62654  dbSNP: rs1042522

Total submissions: 28

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079202	SCV000111071	benign	not specified	2016-04-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000132165	SCV000187242	benign	Hereditary cancer-predisposing syndrome	2014-11-18	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health	RCV000132165	SCV000292072	benign	Hereditary cancer-predisposing syndrome	2014-11-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000079202	SCV000305114	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000144668	SCV000407071	benign	Li-Fraumeni syndrome 1	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000034639	SCV000605416	benign	not provided	2023-11-30	criteria provided, single submitter	clinical testing
IntelligeneCG	RCV000144668	SCV000611723	benign	Li-Fraumeni syndrome 1	2017-08-18	criteria provided, single submitter	clinical testing
Invitae	RCV000300782	SCV000629789	benign	Li-Fraumeni syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV000144668	SCV001440886	benign	Li-Fraumeni syndrome 1	2019-01-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000034639	SCV001940208	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 17719241, 22289634, 23729685, 22703879, 18990008, 22524816, 20128691, 12459171, 19657731, 15138483, 21323870, 18426989, 15183530, 20587514, 18256523, 19789321, 15131588, 19837266, 18567547, 23210739, 22189267, 21038427, 20019240, 23073555, 20939739, 19357867, 19521721, 20886596, 21931130, 21454683, 21814224, 22336889, 19542078, 16258005, 11983757, 19657586, 11844595, 22367371, 21245379, 9891044, 17403527, 18583979, 12567188, 19171829, 19165225, 19639206, 21124037, 23207172, 21778786, 24728327, 21283750, 22545084, 24747975, 12826609, 19470478, 8625447, 23793604, 27153395, 25896519, 15609317, 23683469, 9607760)
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	RCV002225263	SCV002505076	benign	Hereditary breast ovarian cancer syndrome	2022-04-19	criteria provided, single submitter	clinical testing
Genetics Program, Instituto Nacional de Cancer	RCV002225263	SCV002515178	benign	Hereditary breast ovarian cancer syndrome	2021-11-01	criteria provided, single submitter	research
Genome-Nilou Lab	RCV000132165	SCV002582428	benign	Hereditary cancer-predisposing syndrome	2022-06-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000144668	SCV002583090	benign	Li-Fraumeni syndrome 1	2022-06-18	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002496335	SCV002804833	benign	Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma; Colorectal cancer; Bone marrow failure syndrome 5	2021-12-20	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000300782	SCV004823832	benign	Li-Fraumeni syndrome	2024-02-05	criteria provided, single submitter	clinical testing
OMIM	RCV000013144	SCV000033391	benign	CODON 72 POLYMORPHISM	2009-10-01	no assertion criteria provided	literature only
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000034639	SCV000043503	no known pathogenicity	not provided	2012-07-13	no assertion criteria provided	research	Converted during submission to Benign.
ITMI	RCV000079202	SCV000086398	not provided	not specified	2013-09-19	no assertion provided	reference population
Pathway Genomics	RCV000144668	SCV000189999	uncertain significance	Li-Fraumeni syndrome 1	2014-07-24	no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000079202	SCV000692094	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000144668	SCV000733710	benign	Li-Fraumeni syndrome 1		no assertion criteria provided	clinical testing
Institute of Medical Sciences, Banaras Hindu University	RCV001255631	SCV001432167	pathogenic	Lip and oral cavity carcinoma	2019-04-30	no assertion criteria provided	research
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000079202	SCV001905760	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000079202	SCV001928733	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000079202	SCV001957163	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000079202	SCV001974193	benign	not specified		no assertion criteria provided	clinical testing
Dr. Afia Zoology Lab, University of Education	RCV002510562	SCV002820082	benign	Acute myeloid leukemia		no assertion criteria provided	clinical testing