ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.517-2_631+1del

dbSNP: rs2137451892
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001354369 SCV001548970 pathogenic Malignant tumor of breast no assertion criteria provided clinical testing The c.517-?_631+?del variant has not been previously reported in the literature. The precise breakpoint of this deletion was not determined and so the consequence of this alteration cannot be predicted. Skipping or deletion of Exon 7 is possible or the creation of an alternatively spliced product that leads to a premature stop codon, an in-frame or out of frame deletion, a truncated or absent protein product and loss of function, are possibilities. The c.517-?_631+?del deletion in the BRCA2 gene is of the type that is expected to cause the disorder and is an established mechanism of mutation in hereditary breast cancer patients. In summary, based on the above information, this variant is classified as pathogenic.

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