Submissions for variant NM_000059.4(BRCA2):c.8488-5T>C

dbSNP: rs533806629

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000213120	SCV000274989	likely benign	Hereditary cancer-predisposing syndrome	2019-12-20	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.
Genetic Services Laboratory, University of Chicago	RCV000504448	SCV000593732	uncertain significance	not specified	2016-06-15	criteria provided, single submitter	clinical testing
Invitae	RCV001087971	SCV000635664	likely benign	Hereditary breast ovarian cancer syndrome	2024-01-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000590772	SCV000695159	likely benign	not provided	2016-05-20	criteria provided, single submitter	clinical testing	Variant summary: c.8488-5T>C in BRCA2 gene is an intronic change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict this variant to not affect splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at frequency of 0.0009 (15/121222 chrs tested) exclusively in individuals of South Asian descent, including 1 homozygous occurrence. The variant has not, to our knowledge, been reported in affected individuals via publications or reputable databases/clinical laboratories. Taken together the variant was classified as Likely benign until additional information becomes available.
Color Diagnostics, LLC DBA Color Health	RCV000213120	SCV000911019	likely benign	Hereditary cancer-predisposing syndrome	2016-12-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000590772	SCV001939397	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Molecular Endocrinology Laboratory, Christian Medical College	RCV001770176	SCV002004002	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 2		criteria provided, single submitter	clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	RCV001087971	SCV002025854	likely benign	Hereditary breast ovarian cancer syndrome	2022-04-19	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000213120	SCV002531951	likely benign	Hereditary cancer-predisposing syndrome	2021-09-16	criteria provided, single submitter	curation
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003150122	SCV003838840	likely benign	Breast and/or ovarian cancer	2021-09-24	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000504448	SCV004027482	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing