ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5278-2del (rs878853285)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000225450 SCV000282243 pathogenic Breast-ovarian cancer, familial 1 2016-04-03 reviewed by expert panel curation Allele-specific assay on patient-derived mRNA demonstrated that the variant allele produces only predicted non-functional transcripts. Variant allele produces r.5278_5332del and r.5278_5285del transcripts (encoding predicted non-functional proteins).
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000225450 SCV000326246 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV001201546 SCV001372622 pathogenic Hereditary breast and ovarian cancer syndrome 2019-10-03 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 19 of the BRCA1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals with a personal or family history of breast or ovarian cancer (PMID: 23451180, 30430080). This variant is also known as IVS20-2delA in the literature. ClinVar contains an entry for this variant (Variation ID: 236262). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 23451180). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.

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