ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8953+1G>A (rs81002882)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000772120 SCV000905186 likely pathogenic Hereditary cancer-predisposing syndrome 2018-08-17 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000258436 SCV000328006 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000481114 SCV000568496 pathogenic not provided 2016-06-06 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.8953+1G>A or IVS22+1G>A and consists of a G>A nucleotide substitution at the +1 position of intron 22 of the BRCA2 gene. Using alternate nomenclature, this variant would be defined as BRCA2 9181+1G>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. This variant has been reported at least once, in an individual with a personal and/or family history of breast and/or ovarian cancer (Marroni 2004). We consider this variant to be pathogenic.

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