Submissions for variant NM_000059.3(BRCA2):c.7008-20_7008-17del (rs276174887)

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Total submissions: 7

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000198770	SCV000253033	benign	Hereditary breast and ovarian cancer syndrome	2016-02-24	criteria provided, single submitter	clinical testing
Michigan Medical Genetics Laboratories,University of Michigan	RCV000113687	SCV000267802	uncertain significance	Breast-ovarian cancer, familial 2	2016-04-21	criteria provided, single submitter	clinical testing
Counsyl	RCV000113687	SCV000488134	uncertain significance	Breast-ovarian cancer, familial 2	2016-02-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000480637	SCV000568908	likely benign	not specified	2016-07-03	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America	RCV000590205	SCV000695024	likely benign	not provided	2016-10-24	criteria provided, single submitter	clinical testing	Variant summary: The BRCA2 c.7008-20_7008-17delATAT variant involves the deletion of four intronic nucleotides, which located >15bps from the splice site. 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 119900 control chromosomes. This variant has been found in one individual with co-occurrence of a BRCA2 pathogenic variant (c.1755_1759delGAAAA/p.Lys585_Thr587?fs). In addition, one clinical diagnostic laboratory classified this variant as Benign in 2016. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely benign.
Color	RCV000776167	SCV000911243	likely benign	Hereditary cancer-predisposing syndrome	2017-12-07	criteria provided, single submitter	clinical testing
Breast Cancer Information Core (BIC) (BRCA2)	RCV000113687	SCV000146996	uncertain significance	Breast-ovarian cancer, familial 2	2002-05-29	no assertion criteria provided	clinical testing

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