ClinVar Miner

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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