Submissions for variant NM_000059.4(BRCA2):c.9645T>A (p.Leu3215=)

gnomAD frequency: 0.00001  dbSNP: rs755111487

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000494946	SCV000578727	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2017-06-29	reviewed by expert panel	curation	Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Mendelics	RCV000709343	SCV000838910	benign	Hereditary breast ovarian cancer syndrome	2023-08-22	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000773163	SCV000906708	likely benign	Hereditary cancer-predisposing syndrome	2018-09-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000709343	SCV002438489	likely benign	Hereditary breast ovarian cancer syndrome	2024-07-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000773163	SCV002689050	likely benign	Hereditary cancer-predisposing syndrome	2020-01-16	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.
All of Us Research Program, National Institutes of Health	RCV000494946	SCV004846211	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2023-03-17	criteria provided, single submitter	clinical testing