Submissions for variant NM_000059.4(BRCA2):c.7581A>G (p.Val2527=)

dbSNP: rs1409888455

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV001026589	SCV001189001	likely benign	Hereditary cancer-predisposing syndrome	2019-03-20	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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	RCV001494971	SCV001699638	likely benign	Hereditary breast ovarian cancer syndrome	2019-07-14	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV002268413	SCV002551546	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	RCV001026589	SCV004801949	likely benign	Hereditary cancer-predisposing syndrome	2024-02-02	criteria provided, single submitter	clinical testing	The following ACMG criteria is used: PM2_Supporting (not reported in gnomAD), BP4 (SpliceAI: less than or equal to 0.1), BP7