Submissions for variant NM_032043.3(BRIP1):c.3051G>A (p.Pro1017=)

gnomAD frequency: 0.00004  dbSNP: rs776990704

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000199217	SCV000253626	likely benign	Familial cancer of breast; Fanconi anemia complementation group J	2025-01-22	criteria provided, single submitter	clinical testing
Counsyl	RCV000409559	SCV000489927	likely benign	Fanconi anemia complementation group J	2016-08-15	criteria provided, single submitter	clinical testing
Counsyl	RCV000411112	SCV000489928	likely benign	Ovarian neoplasm	2016-08-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001705155	SCV000531752	likely benign	not provided	2019-03-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000561018	SCV000668867	likely benign	Hereditary cancer-predisposing syndrome	2015-08-21	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.
Color Diagnostics, LLC DBA Color Health	RCV000561018	SCV000684245	likely benign	Hereditary cancer-predisposing syndrome	2016-07-27	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV003316108	SCV004019343	benign	Familial cancer of breast	2023-02-28	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004767142	SCV005381199	likely benign	not specified	2024-08-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004732778	SCV005345132	likely benign	BRIP1-related disorder	2019-06-06	no assertion criteria provided	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).