ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6879del (p.Phe2293fs) (rs886040932)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000258483 SCV000327534 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000258483 SCV000677856 likely pathogenic Breast-ovarian cancer, familial 2 2016-12-21 criteria provided, single submitter clinical testing
Invitae RCV000474799 SCV000549670 pathogenic Hereditary breast and ovarian cancer syndrome 2018-01-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe2293Leufs*4) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 267661). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.

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