ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.631+2T>A (rs81002899)

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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 RCV000258303 SCV000327384 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000486311 SCV000569285 pathogenic not provided 2018-05-29 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.631+2T>A or IVS7+2T>A and consists of a T>A nucleotide substitution at the +2 position of intron 7 of the BRCA2 gene. Using alternate nomenclature, this variant would be defined as BRCA2 859+2T>A. This variant 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. While BRCA2 c.631+2T>A has not, to our knowledge, been reported in the literature, another variant at the same position, BRCA2 c.631+2T>G, has been observed in individuals with hereditary breast and/or ovarian cancer syndrome, with functional studies revealing impacts on splicing and protein expression (Pyne 2000, Biswas 2011, Wong-Brown 2015). Based on the current evidence, we consider BRCA2 c.631+2T>A to be pathogenic.
Counsyl RCV000258303 SCV000785355 likely pathogenic Breast-ovarian cancer, familial 2 2017-07-11 criteria provided, single submitter clinical testing

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