Submissions for variant NM_000546.6(TP53):c.6G>A (p.Glu2=)

gnomAD frequency: 0.00009  dbSNP: rs143458271

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000162663	SCV000213104	likely benign	Hereditary cancer-predisposing syndrome	2014-09-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Invitae	RCV000197468	SCV000253316	likely benign	Li-Fraumeni syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Counsyl	RCV000411973	SCV000488031	likely benign	Li-Fraumeni syndrome 1	2015-12-14	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000508330	SCV000602276	benign	not specified	2017-03-30	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000162663	SCV000686763	likely benign	Hereditary cancer-predisposing syndrome	2016-07-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001171920	SCV001334823	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	TP53: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000508330	SCV001338226	benign	not specified	2021-10-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001171920	SCV001473132	likely benign	not provided	2019-11-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001171920	SCV001868164	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000162663	SCV002532704	likely benign	Hereditary cancer-predisposing syndrome	2020-10-13	criteria provided, single submitter	curation
Genome-Nilou Lab	RCV000162663	SCV002582327	likely benign	Hereditary cancer-predisposing syndrome	2022-06-18	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000411973	SCV002582989	likely benign	Li-Fraumeni syndrome 1	2022-06-18	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000411973	SCV004017839	benign	Li-Fraumeni syndrome 1	2023-04-11	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
PreventionGenetics, part of Exact Sciences	RCV003907496	SCV004726522	likely benign	TP53-related disorder	2019-08-09	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health	RCV000197468	SCV004823875	likely benign	Li-Fraumeni syndrome	2024-02-05	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001171920	SCV001798430	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV001171920	SCV001906257	likely benign	not provided		no assertion criteria provided	clinical testing