Submissions for variant NM_032043.3(BRIP1):c.3149C>A (p.Thr1050Asn)

gnomAD frequency: 0.00001  dbSNP: rs373040333

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000129015	SCV000172914	likely benign	Hereditary cancer-predisposing syndrome	2022-12-06	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000197620	SCV000255168	likely benign	Familial cancer of breast; Fanconi anemia complementation group J	2024-01-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000213740	SCV000279357	uncertain significance	not provided	2024-05-13	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27978560, 28135145, 24838835, 25186627, 21279724, 29470806, Ceylan_2021, 11301010)
Counsyl	RCV000662424	SCV000784875	uncertain significance	Fanconi anemia complementation group J; Ovarian neoplasm	2017-01-20	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000213740	SCV000887999	uncertain significance	not provided	2018-01-26	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000197620	SCV000896648	uncertain significance	Familial cancer of breast; Fanconi anemia complementation group J	2018-10-31	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000129015	SCV000902807	likely benign	Hereditary cancer-predisposing syndrome	2016-03-02	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV003315868	SCV004019404	uncertain significance	Familial cancer of breast	2023-03-01	criteria provided, single submitter	clinical testing	This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.