Submissions for variant NM_000059.4(BRCA2):c.9257-18C>A

gnomAD frequency: 0.00001  dbSNP: rs81002807

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001087692	SCV000073778	likely benign	Hereditary breast ovarian cancer syndrome	2024-01-06	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000581645	SCV000689185	likely benign	Hereditary cancer-predisposing syndrome	2015-03-09	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000589582	SCV000695227	likely benign	not provided	2016-07-22	criteria provided, single submitter	clinical testing	Variant summary: The BRCA2 c.9257-18C>A variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant is absent in 106186 control chromosomes. This variant has been reported in two BrC patients without strong evidence for causality. In addition, one clinical diagnostic laboratory classified this variant as likely benign, without evidence to independently evaluate. Chen_2006 showed no change on mRNA was detected and this variant was classified as a benign polymorphism. Taken together, this variant is classified as likely benign until more evidence becomes available.
GeneDx	RCV000589582	SCV001846765	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breast Cancer Information Core (BIC) (BRCA2)	RCV000114079	SCV000147588	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 2		no assertion criteria provided	clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	RCV000496341	SCV000587993	uncertain significance	not specified	2014-01-31	no assertion criteria provided	research