Submissions for variant NM_000059.4(BRCA2):c.10120A>G (p.Thr3374Ala)

dbSNP: rs80358395

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000043717	SCV000071730	likely benign	Hereditary breast ovarian cancer syndrome	2024-10-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000166051	SCV000216812	likely benign	Hereditary cancer-predisposing syndrome	2021-09-23	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.
Counsyl	RCV000112843	SCV000488691	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 2	2016-05-23	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000166051	SCV000911251	likely benign	Hereditary cancer-predisposing syndrome	2017-02-17	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001284405	SCV001470188	uncertain significance	not provided	2023-04-17	criteria provided, single submitter	clinical testing	The frequency of this variant in the general population, 0.000004 (1/251266 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. In the published literature, the variant has been reported in a single hereditary breast and ovarian cancer family with individuals with bilateral breast cancer history (PMID: 12955716 (2003)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.
CeGaT Center for Human Genetics Tuebingen	RCV001284405	SCV001746181	likely benign	not provided	2021-06-01	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000166051	SCV002533191	uncertain significance	Hereditary cancer-predisposing syndrome	2022-02-16	criteria provided, single submitter	curation
All of Us Research Program, National Institutes of Health	RCV000112843	SCV004846267	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2023-02-24	criteria provided, single submitter	clinical testing
Breast Cancer Information Core (BIC) (BRCA2)	RCV000112843	SCV000145756	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 2	2004-02-20	no assertion criteria provided	clinical testing