ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8948_8953+5delATTCAGGTAAG (rs276174915)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129964 SCV000184788 likely pathogenic Hereditary cancer-predisposing syndrome 2013-12-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000238747 SCV000328003 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000236901 SCV000293590 pathogenic not provided 2015-11-23 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.8948_8953+5del11 and consists of a deletion of 11 nucleotides at the exon/intron boundary of exon 22. The normal sequence, with the bases that are deleted in braces, is AAAG[del11]tatg where the capital letters are exonic and the lower case are intronic. This variant, also known as BRCA2 c.8948_8953+5del using alternate nomenclature, destroys a canonical splice donor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. Functional studies using a minigene assay have demonstrated that this variant causes aberrant splicing (Acedo 2014). Based on the currently available information, we consider BRCA2 c.8948_8953+5del11 to be a pathogenic variant.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000238747 SCV000296606 pathogenic Breast-ovarian cancer, familial 2 2015-10-05 criteria provided, single submitter clinical testing

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